How does the cell shown in the image classically respond to neural injury?

____ ____

Reactive gliosis. This is an astrocyte

From what germinal layer do astrocytes arise?

_____

Neuroectoderm

Which glial cell type is the most common in the central nervous system, with functions such as support, repair, and contributing to the blood-brain barrier?

______

Astrocytes

What marker is associated with astrocytes?

______

GFAP

Astrocytes help in _____ fuel reserve and the removal of excess _____.

glycogen fuel reserve

nuerotransmitters

An active subthalamic nucleus will directly stimulate which structure? Does this ultimately promote or decrease movement?

The _____ _____ _____, which _____ movement

The globus pallidus interna, which decreases movement.

This is via increased inhibitory output to the thalamus.

An active globus pallidus externa will directly inhibit which structure? Does this ultimately promote or decrease movement?

The _____ _____, which _____ movement

The subthalamic nucleus, which increases movement.

This is via reduced stimulatory output to the globus pallidus interna.

An active globus pallidus interna will directly inhibit which structure? Does this ultimately promote or decrease movement?

The _____, which _____ movement

The thalamus, which decreases movement.

This is via reduced stimulatory output to the cortex.

Dopamine unbinds from D₂ receptors in the striatum. What happens within the indirect pathway to decrease movement?

Striatal _____ increases → _____ _____ _____ inhibited → _____ _____ disinhibited → _____ _____ _____ stimulated → _____ and _____ inhibited → Movement decreases

Striatal GABA increases → Globus pallidus externus inhibited → Subthalamic nucleus disinhibited → Globus pallidus internus stimulated → Thalamus and cortex inhibited → Movement decreases

Dopamine binds to D₂ receptors in the striatum. What happens downstream in the indirect pathway to promote movement?

Striatal _____ decreases → _____ _____ _____ disinhibited → _____ _____ inhibited → _____ _____ _____ inactivated → _____ disinhibited → _____ stimulated → Movement promoted

Striatal GABA decreases → Globus pallidus externus disinhibited → Subthalamic nucleus inhibited → Globus pallidus internus inactivated → Thalamus disinhibited → Cortex stimulated → Movement promoted

Dopamine binds to D₁ receptors in the striatum. What happens downstream in the direct pathway to promote movement?

Striatum inhibits the _____ _____ _____ → Disinhibition of the _____ → Stimulation of the _____ → Promotion of movement

Striatum inhibits the globus pallidus interna → Disinhibition of the thalamus → Stimulation of the cortex → Promotion of movement

If the subthalamic nucleus is stimulated, what happens to the thalamus and cortex? What happens to movement?

Subthalamic nucleus stimulates the _____ _____ _____ → Inhibition of the _____ and _____ → Prevention of movement

Subthalamic nucleus stimulates the globus pallidus interna → Inhibition of the thalamus and cortex → Prevention of movement

If the globus pallidus internus is stimulated, what happens to the thalamus and cortex? What happens to movement?

Stimulation of the globus pallidus internus → _____ of the thalamus and cortex → _____ of movement

Stimulation of the globus pallidus internus → Inhibition of the thalamus and cortex → Prevention of movement

Where in the basal ganglia are D₂ receptors chiefly found?

_____

Striatum

They function to disinhibit movement when acted on by nigrostriatal dopamine.

Dopamine from which area binds D₂ receptors in the striatum? Does this stimulate or inhibit movement? Specify direct or indirect pathway.

The ____ ____ pars compacta, which ____ movement via inhibition of the ____ pathway

The substantia nigra pars compacta, which stimulates movement via inhibition of the indirect pathway

Where in the basal ganglia are D₁ receptors chiefly found?

_____

Striatum.

They function to stimulate movement when acted on by nigrostriatal dopamine.

Dopamine from which area binds D₁ receptors in the striatum? Does this stimulate or inhibit movement? Specify direct or indirect pathway.

The ____ ____ pars compacta, which ____ movement via inhibition of the ____ pathway

The substantia nigra pars compacta, which stimulates movement via the direct pathway

How does the cortex modulate the striatum in the indirect pathway to stop movements?

The cortex [stimulates/inhibits] the striatum

The cortex stimulates the striatum

How does the cortex modulate the direct dopaminergic pathway to initiate movement?

The cortex stimulates the _____ → Inhibition of the _____ _____ _____ → Disinhibition of the _____ → Generation of movement

The cortex stimulates the striatum → Inhibition of the globus pallidus interna → Disinhibition of the thalamus → Generation of movement

What neurotransmitter is used by the substantia nigra pars compacta to modulate the direct and indirect pathways in the basal ganglia?

Dopamine

What neurotransmitter is released by the striatum to inhibit the globus pallidus interna or globus pallidus externa?

GABA

What do the putamen and globus pallidus make up?

_____ nucleus

Lentiform nucleus

What are the 2 areas of the striatum, and how does each function in movement and cognition?

The _____ nucleus is involved in cognitive aspects of motion
The _____ guides motor learning and performance

caudate

putamen

Which brain area is important in voluntary movement and postural adjustments?

Basal ganglia

e. subthalamic nucleus

basal ganglia

The vomiting center is coordinated by what specific tract?

Nucleus ____ ____ in the ____

Nucleus tractus solitarius in the medulla

The vomiting center receives information from what 4 structures?

____ trigger zone
____ tract
____ system
____

Chemoreceptor trigger zone
Gastrointestinal tract
Vestibular system
CNS

The chemoreceptor trigger zone and adjacent vomiting center nuclei receive input from which 5 major receptors?

____ receptors
____ receptors
____ receptors
____ receptors
____ receptors

Muscarinic receptors
Dopamine receptors
Serotonin receptors
Histamine receptors
Neurokinin receptors

Antagonists to which 3 receptors can treat vomiting induced by chemotherapy?

______ receptors

______ receptors

______ receptors

Seratonin

Dopamine

Nuerokinin

Antagonists to which 2 receptors can treat motion sickness?

______ receptors
______ receptors

Muscarinic receptors
Histamine receptors

Antagonists to which receptors are used to treat hyperemesis gravidarum?

_____ receptors

Histamine receptors

The peak incidence of sexual abuse of children occurs in what age range?

____ to ____ years

9 to 12 years

What type of hematoma would you expect to see on a CT scan of the head of a baby who is shaken by a frustrated mother and shortly afterward becomes obtunded?

Subdural hematoma.

This is produced by the shearing of sensitive bridging veins within the immature skull.

What evidence from an eye exam might indicate physical child abuse?

____ ____

Retinal hemorrhages.

This is suggestive of shaken baby syndrome.

What type of child abuse presents with lack of bond with caregiver but increased affection with less familiar adults?

____ abuse

Emotional abuse

What symptoms usually indicate emotional abuse in older children?

Frequent _____ outbursts
_____ themselves from caregivers and other children
Emotional _____
_____ symptoms for which no physical cause can be found

Frequent anger outbursts
Distancing themselves from caregivers and other children
Emotional lability
Somatic symptoms for which no physical cause can be found

What are all these signs of?

Sexually transmitted infections
Urinary tract infections
Genital trauma
Anal trauma
Oral trauma
Exhibition of sexual knowledge or behavior

sexual abuse in children

In the setting of physical abuse of a child, what signs may caregivers exhibit?

_____ of medical care
Provide explanations that do not fit the child's _____ or _____ patterns
Change their _____ over time

Delay of medical care
Provide explanations that do not fit the child's age or injury patterns
Change their stories over time

What outcome can be expected in young adult victims of child emotional abuse by the age of 21?

Most of them may meet one or more criteria for diagnosis of a ______ illness by this age

psychiatric

What type of hemorrhage is seen on this CT scan?

Rupture of which artery is most often implicated?

Epidural hematoma

Middle meningeal (branch of the maxillary artery)

What are 2 complications of epidural hematoma expansion?

_____ herniation

Cranial Nerve _____ Palsy

Transtentorial herniation

Cranial Nerve 3 Palsy

A patient is struck on the side of the head by a baseball bat. He has epidural hematoma. What would you expect initially and how would it progress?

He appears fine initially but becomes obtunded 30 minutes later.

In a patient who has an epidural hematoma, what bony region is likely fractured in the skull and why?

The _____, which is the _____ area of the lateral skull

The pterion, which is the thinnest area of the lateral skull

Through what opening does the middle meningeal artery enter the skull?

foramen _____

foramen spinosum

What kind of medical care aims at improving quality of life in patients with serious illnesses despite their prognosis and is often given with curative treatment?

Palliative care

What should be the life expectancy of the patients to be eligible for hospice care?

6 months or less

Which type of medical care focuses on providing comfort and palliation instead of a definitive cure in patients with a prognosis of < 6 months?

Hospice care

Excessive consumption of which vitamin can cause recurrent calcium oxalate renal stones?

Vitamin C

What vitamin can aid in reversing an amyl nitrite overdose?

Vitamin ___

Vitamin C.

Vitamin C can be used to treat methemoglobinemia by reducing Fe³⁺ to Fe²⁺.

What enzyme uses ascorbic acid to convert dopamine to norepinephrine?

_____ __-_____

Dopamine β-hydroxylase

What are the main dietary sources of vitamin C?

_____

_____

Fruits
Vegetables

Vitamin C is required for the synthesis of which neurotransmitter?

_____

Norepinephrine

How does vitamin C promote the absorption of iron?

By reducing [...] to [...]

By reducing Fe³⁺ to Fe²⁺

What is the role of vitamin C in collagen synthesis?

____ of ____ and ____ residues

Hydroxylation of lysine and proline residues

A patient with scurvy would be at risk for which two specific types of hemorrhages?

_____ hemorrhages
_____ hemorrhages

Perifollicular hemorrhages
Subperiosteal hemorrhages

What is the likely diagnosis for a patient who has swollen gums, anemia, corkscrew hair who reports poor wound healing, recurrent infections, and easy bruising?

Vitamin ___ deficiency

Vitamin C deficiency. This is also known as scurvy.

What step in collagen synthesis is impaired in patients with scurvy?

_____

Hydroxylation

Anterior drawer sign assesses anterior gliding of the tibia with the knee at ____°
Lachman test assesses anterior gliding of the tibia with the knee at ____°

90

30

Is the drawer test or lachman test more sensitive?

lachman

What are the 2 attachment points of the ACL?

[Medial/Lateral] femoral condyle
[Anterior/Posterior] _____

Lateral femoral condyle
Anterior tibia

What are the 2 attachment points of the PCL?

[Medial/Lateral] femoral condyle
[Anterior/Posterior] _____

Medial femoral condyle
Posterior tibia

battery

Cruzan v. Director

Approximately how long is vitamin B₉ stored in the liver?

3 to 4 [months/years]

3 to 4 months

Approximately how long is vitamin B₁₂ stored in the liver?

3 to 4 [months/years]

3 to 4 years

Which three symptoms are most often associated with all the vitamin B deficiencies?

____
____
____

Glossitis
Dermatitis
Diarrhea

Although most water-soluble vitamins are cleared from the body quickly, which two remain stored?

Vitamin [...]
Vitamin [...]

Vitamin B₁₂
Vitamin B₉

What is the alternative name for vitamin B₇?

Biotin

What is the alternative name for vitamin B₁₂?

Cobalamin

What is the alternative name for vitamin C?

Ascorbic acid

What are the two main molecular derivatives of vitamin B₂?

___

___

FAD
FMN

What is the main molecular derivative of vitamin B₃?

___

NAD+

What is the main molecular derivative of pantothenic acid?

____

CoA

What is the main molecular derivative of vitamin B₆?

____ phosphate

Pyridoxal phosphate

What might be expected on sperm testing of a man with Kallman syndrome?

[High/Low] sperm count

Low sperm count

What are two reproductive complications of Kallmann syndrome in a female patient?

____
____

Amenorrhea
Infertility

Kallmann syndrome is a form of hypogonadotropic ______.

hypogonadism

What is the pathogenesis of Kallman syndrome?

Defective _____ of neurons and subsequent failure of _____ _____ to develop → Decreased production of _____ in the hypothalamus

Defective migration of neurons and subsequent failure of olfactory bulbs to develop → Decreased production of GnRH in the hypothalamus

MRI of brain

what is this?

____ ____

situs inversus

The X-ray shows situs inversus due to impaired migration and orientation. This is primary ciliary dyskinesia.

primary ciliary dyskinesia can cause hearing issues bc the _____ _____ will be dysfunctional

eustachian tube

primary ciliary dyskinesia can cause:

Dysfunctional cilia of the ____ ____ in females
Immotile ____ in males

Dysfunctional cilia of the fallopian tube in females
Immotile spermatozoa in males

What leads to dysfunctional cilia in patients with primary ciliary dyskinesia?

Defect in the ____ ____ → Immotile cilia

Defect in the dynein arm → Immotile cilia

Why do patients with primary ciliary dyskinesia develop recurrent infections of the respiratory tract?

Impaired _____ _____ of debris and pathogens → Sinusitis, ear infections, and bronchiectasis

mucociliary clearance

What is the mode of inheritance of primary ciliary dyskinesia?

Autosomal recessive

What two conditions classically impair ciliary motility and may lead to bronchiectasis?

____ (something you do)

____ syndrome

Smoking

Kartagener syndrome

Which two genetic diseases are associated with bronchiectasis?

____ ____

____ syndrome

CF

Kartagener syndrome

Both of these diseases impair lung clearance of pathogens.

Kartagener syndrome- impaired ____ mobility of sperm

tail

What molecular defect is responsible for dextrocardia, as seen in Kartagener syndrome?

A defect in _____

dynein

What is the mode of inheritance of Kartagener syndrome?

Autosomal recessive

Which condition is caused by narrowing of the aorta near the insertion of the ductus arteriosus?

Coarction of the aorta

Which congenital disease of the aorta is associated with Turner syndrome and bicuspid aortic valve?

Coarction of the aorta

What physical exam findings can be seen in the upper extremities and lower extremities of patients with coarction of the aorta?

[Hypertension/Hypotension] in upper extremities
[Strong/Weak] and ____ pulses in lower extremities

Hypertension in upper extremities
Weak and delayed pulses in lower extremities

The delayed pulses in Coarc are specifically known as ______ delay.

brachiofemoral

In a pt with coarction of the aorta, what chest X-ray finding develops due to enlargement of intercostal arteries?

____ ____

Rib notching

Collateral circulation causes intercostal arteries to enlarge and erode into the ribs.

Name four complications from coarction of the aorta.

Aortic ____
Heart ____
Infective ____
Cerebral ____

Aortic rupture
Heart failure
Infective endocarditis
Cerebral hemorrhage

thickened aortic wall media in coarc of aorta

What are the common causes of clavicle fractures?

Direct trauma to the ____
Fall on an outstretched ____

Direct trauma to the shoulder
Fall on an outstretched hand

Where is the weakest portion of the clavicle and thus most likely to fracture?

The junction between the ____ third segment and ____ third segment

The junction between the middle third segment and lateral third segment

The _____ third clavicular segment is the most common site of fracture overall.

middle

What fracture presents with shoulder drop, medial arm rotation, and a shortened clavicle?

[...] fracture

Clavicle fracture

The arm rotation in clavicular fracture is due to tension from the _____ _____ .

pectoralis major

Which two cell types are part of the sympathetic pathway but are innervated by cholinergic fibers?

______ medulla

______ glands

adrenal medulla

sweat glands

Do patients have the right to revoke their written consent at any time?

Yes

What are these components of?

Disclosure of information
Patient understanding
Patient capacity
Voluntariness

Informed consent

What three aspects of an intervention must a patient understand to properly grant informed consent?

The ______
The risks/benefits of the proposed ______
The risks/benefits of the ______

The diagnosis
The risks/benefits of the proposed intervention
The risks/benefits of the alternatives

How is consent for treatment obtained when a patient is considered legally incompetent?

Consent should be obtained from the patient's legal ______

Consent should be obtained from the patient's legal surrogate

Is it ethical to perform a life-saving operation when a person injured in a motor vehicle accident is rushed to the emergency department without first obtaining informed consent?

Yes

What is the priority ranking of surrogates for a patient without an advance directive?

[...] → [...] → [...] → [...] → Other [...]

Spouse → Adult children → Parents → Siblings → Other relatives

When is a surrogate decision-maker sought on behalf of a patient?

When a patient loses _____-_____ capacity and does not have an _____ _____ on file

When a patient loses decision-making capacity and does not have an advance directive on file

What primitive reflex will occur if you run a finger along the right side of a neonate's spine while the baby is suspended ventrally?

_____ reflex

Galant reflex

Galant reflex: the infant will laterally flex the _____ body toward the _____.

The infant will laterally flex the lower body toward the right.

When do primitive reflexes normally disappear?

3

4

6

12

Pathology to what area of the brain might cause primitive reflexes to reemerge?

[...] lobe cortical pathology

Frontal lobe cortical pathology

What primitive reflex is elicited when a palm of a neonate is stroked?

_____ reflex

Palmar reflex

Palmar reflex: infant will _____ a finger placed in the palm.

Palmar reflex: infant will grasp a finger placed in the palm.

What primitive reflex is characterized by an infant sucking a finger after the roof of the mouth is touched?

_____ reflex

Sucking reflex

What primitive reflex is characterized by turning of the head to the side when a neonate's cheek is stroked?

_____ reflex

Rooting reflex

What primitive reflex is characterized by extension and abduction of limbs when a neonate is startled?

_____ reflex

Moro reflex

What does a Babinski sign signify?

[Upper/Lower] motor neuron lesion

Upper

What cardiovascular changes occur on the left side cavities of the heart due to normal aging?

[Increase/Decrease] in the size of the left ventricular cavity
[Increase/Decrease] of the left atrial cavity

Decrease in the size of the left ventricular cavity
Increase of the left atrial cavity

The interventricular septum acquires a sigmoid shape.

What effect does immunosenescence due to normal aging have on immunity?

[Increases/Decreases] response to new antigens

Decreases response to new antigens

What changes due to normal aging occur with arterial compliance, aortic diameter, heart rate, and the aortic and mitral valves?

[Increase/Decrease] in arterial compliance
[Increase/Decrease] in aortic diameter
[Increase/Decrease] in heart rate
_____ aortic and mitral valves

Decrease in arterial compliance
Increase in aortic diameter
Decrease in heart rate
Calcified aortic and mitral valves

Name three gastrointestinal changes that occur due to normal aging.

[Increase/Decrease] in lower esophageal sphincter tone
[Increase/Decrease] in gastric mucosal protection
[Increase/Decrease] in colonic motility

Decrease in lower esophageal sphincter tone
Decrease in gastric mucosal protection
Decrease in colonic motility

What two changes occur in bone marrow due to normal aging?

[Increase/Decrease] in bone marrow mass
[Increase/Decrease] in bone marrow fat

Decrease in bone marrow mass
Increase in bone marrow fat

What effect does normal aging have on adaptive immunity?

[Increase/Decrease] in naive B cells and T cells
[Preserved/Destroyed] memory B cells and T cells

Decrease in naive B cells and T cells
Preserved memory B cells and T cells

Name three musculoskeletal changes that occur due to normal aging.

[Increase/Decrease] in skeletal muscle mass
[Increase/Decrease] in bone mass
[Thickening/Thinning] of joint cartilage

Decrease in skeletal muscle mass
Decrease in bone mass
Thinning of joint cartilage

What two nervous system changes occur due to normal aging?

[Increase/Decrease] in brain volume
[Increase/Decrease] in cerebral blood flow

Decrease in brain volume
Decrease in cerebral blood flow

Name five skin changes that occur due to normal aging.

_____ and _____ of dermal-epidermal junction
[Increase/Decrease] in dermal collagen
[Increase/Decrease] in elastin
[Increase/Decrease] in sweat glands
[Increase/Decrease] in sebaceous glands

Atrophy and flattening of dermal-epidermal junction
Decrease in dermal collagen
Decrease in elastin
Decrease in sweat glands
Decrease in sebaceous glands

What is a cause of chronological or intrinsic aging of the skin?

Decreased synthesis capacity of dermal ______

Decreased synthesis capacity of dermal fibroblasts

How does sun exposure contribute to aging?

_____ _____ degrade dermal collagen and elastin
Products of degradation accumulate in the dermis → _____ _____

UV rays degrade dermal collagen and elastin
Products of degradation accumulate in the dermis → solar elastosis

Name three renal changes that occur due to normal aging.

[Increase/Decrease] in glomerular filtration rate
[Increase/Decrease] in renal blood flow
[Increase/Decrease] in hormonal function

Decrease in glomerular filtration rate
Decrease in renal blood flow
Decrease in hormonal function

How does aging alter the male reproductive system?

Testicular _____
Prostate _____
[Faster/Slower] erection/ejaculation
[Longer/Shorter] refractory period

Testicular atrophy
Prostate enlargement
Slower erection/ejaculation
Longer refractory period

Name five vaginal changes that occur due to normal aging.

Vulvovaginal ______
Vaginal [lengthening/shortening]
Vaginal [thickening/thinning]
Vaginal [wetness/dryness]
[Increase/Decrease] in pH

Vulvovaginal atrophy
Vaginal shortening
Vaginal thinning
Vaginal dryness
Increase in pH

How does aging alter lung and chest wall compliance?

[Increases/Decreases] lung compliance
[Increases/Decreases] chest wall compliance

Increases lung compliance
Decreases chest wall compliance

How does aging alter residual lung volume, V/Q mismatch, and the A-a gradient?

[Increases/Decreases] residual lung volume
[Increases/Decreases] V/Q mismatch
[Increases/Decreases] A-a gradient

Increases residual lung volume
Increases V/Q mismatch
Increases A-a gradient

How does aging alter FEV₁, FVC, and respiratory muscle strength?

[Increases/Decreases] FEV₁
[Increases/Decreases] FVC
[Increases/Decreases] respiratory muscle strength

Decreases FEV₁
Decreases FVC
Decreases respiratory muscle strength

How does total lung capacity change during normal aging?

No change

How does aging affect ventilatory response to hypoxia/hypercapnia?

[Increased/Decreased] capacity

Decreased capacity

What is the likely diagnosis for a patient who has hallucinations just before falling asleep and on awakening and a decreased hypocretin in cerebrospinal fluid?

______ with ______ /______ hallucinations

Narcolepsy with hypnagogic/hypnopompic hallucinations

What two classes of drugs are used to treat narcolepsy?

_____ during the day
_____ _____ at night

Stimulants during the day
Sodium oxybate at night

What neurochemical changes are found in patients with narcolepsy?

Decreased production of _______ in the lateral hypothalamus
_______ -_______ cycle dysregulated

Decreased production of orexin in the lateral hypothalamus
Sleep-wake cycle dysregulated

What is the definition of cataplexy?

Loss of all ______ tone as a result of a strong ______ stimulus

Loss of all muscle tone as a result of a strong emotional stimulus

What are three conditions associated with narcolepsy?

[...]/[...] hallucinations
Sleep ____
____ (to do with tone)

Hypnagogic/hypnopompic hallucinations
Sleep paralysis
Cataplexy

What criteria must a patient meet for a diagnosis of narcolepsy?

Excessive daytime ______ with repeated episodes of quick and overwhelming ______ at least ______ times per week for the past ______ months

Excessive daytime sleepiness with repeated episodes of quick and overwhelming sleepiness at least 3 times per week for the past 3 months

What nonpharmacologic treatment is available for narcolepsy?

Good sleep ______

Good sleep hygiene

What is the most common cause of short-limbed dwarfism?

______

Achondroplasia

In achondroplasia, why are the head and torso unaffected?

The skull is formed by ______ ossification, which is unaffected in achondroplasia

The skull is formed by membranous ossification, which is unaffected in achondroplasia

In achondroplasia, which gene/pathway is pathologically activated?

A. FGFR3
B. FBN1
C. COL1A1
D. GNAS

A. FGFR3

In achondroplasia, constitutive FGFR3 activation inhibits which process?

A. Osteoblast apoptosis
B. Chondrocyte proliferation
C. Collagen cross-linking
D. Osteoclast resorption

B. Chondrocyte proliferation

In achondroplasia, what type of bone ossification is impaired?

Impaired _____ ossification → Failed _____ bone growth → Short limbs

Impaired endochondral ossification → Failed longitudinal bone growth → Short limbs

Most cases of achondroplasia occur due to sporadic mutation. What risk factor increases the chance of this disease?

Mutation is associated with increased [paternal/maternal] age

Mutation is associated with increased paternal age

Name the inheritance pattern of achondroplasia.

____ ____ with full penetrance

Autosomal dominant with full penetrance

What is meant by the "fibro fog" experienced by patients diagnosed with fibromyalgia?

______ disturbances

Cognitive disturbances

What are the classic physical exam findings in a patient with fibromyalgia?

Chronic ____ with "_____ points" and _____

Chronic pain with "tender points" and stiffness

Name 1 lifestyle and 2 pharmacologic treatment approaches to fibromyalgia.

Lifestyle option → Regular _____
Pharmacologic options → _____ and/or a drug that targets _____ pain

Lifestyle option → Regular exercise
Pharmacologic options → Antidepressants and/or a drug that targets neuropathic pain

Members of what demographic are most commonly diagnosed with fibromyalgia?

_____ that are 20 to 50 years old

Females

Compression of which nerve causes numbness, tingling, and burning pain in the anterolateral thigh?

Lateral femoral cutaneous nerve

Compression of lateral femoral cutaneous causes numbness, tingling, and burning pain in the anterolateral thigh and is called what?

meralgia paresthetica

What three drugs or drug classes are associated with the development of parkinsonism?

anti_____

____

____

antipsychotics

metoclopramide

resperine

Which MAO inhibitor is used to treat Parkinson disease?

Selegiline

What is the treatment for parkinsonism induced by antipsychotics?

________

________

Benztropine

Amantadine

The combination of carbidopa/levodopa is indicated for what disease?

Parkison's disease

Parkinson disease is characterized by decreased dopamine and increased acetylcholine levels. Dopamine is produced in the substantia nigra and the ____ ____ area.

ventral tegmental area

How do Parkinson drugs that increase L-DOPA availability work?

Act peripherally to prevent _______ of L-DOPA and increase the amount that passes through the _______-_______ _______ for conversion to _______

Act peripherally to prevent breakdown of L-DOPA and increase the amount that passes through the blood-brain barrier for conversion to dopamine

What are the two clinical indications for benztropine use?

Acute ____
____ symptoms of Parkinson disease

Acute dystonia
Cholinergic symptoms of Parkinson disease

Which 2 medications (both antimuscarinic) reduce the tremor and rigidity of Parkinson disease but not the bradykinesia?

______

______

Benztropine

Trihexyphenidyl

Where in the neurons do centrally acting Parkinson drugs act to inhibit dopamine breakdown?

_____ terminals of the _____ _____ neurons

presynaptic terminals of the substania nigra neurons

Which drug used in Parkinson disease therapy is prescribed to reduce levodopa-induced dyskinesias?

______

Amantadine

What are the 2 mechanisms of action of amantadine in the treatment of Parkinson disease?

Promoting release of ______ from presynaptic neurons
Inhibiting ______ reuptake by presynaptic neurons

Promoting release of dopamine from presynaptic neurons
Inhibiting dopamine reuptake by presynaptic neurons

What movement disorder presents with restlessness and a persistent, annoying urge to move in a patient being treated for schizophrenia?

Akathisia

What disease is classically associated with a unilateral "pill rolling" tremor at rest?

Parkinson's disease

What are the characteristic symptoms of Parkinson disease?

____

____

____

____ instability

Tremor

Rigidity

Akinesia

Postural instability

Which form of dementia results from loss of dopaminergic neurons of the substantia nigra pars compacta?

Parkison's disease

What intracellular eosinophilic inclusions composed of α-synuclein are seen in Parkinson disease?

Lewy bodies

Parkinson disease is associated with _____ dermatitis

Seborrheic dermatitis

Which dopaminergic pathway is responsible for parkinsonism and other major movement disorders?

______ pathway

Nigrostriatal pathway

How are Ach, Dopamine, Serotonin changed in Parkinsons?

Ach is inc

Dopamine is dec

Serotonin is dec

What is the first-line management of Wolff-Parkinson-White syndrome?

______

Procainamide

What is the most common type of ventricular preexcitation syndrome?

Wolff-Parkinson-White syndrome

Left untreated, what is the major risk associated with Wolff-Parkinson-White syndrome?

Development of a _____ circuit → _____ _____

Development of a reentry circuit → Supraventricular tachycardia

The ECG findings shown are associated with which syndrome?

Wolff-Parkinson-White syndrome

What is the mechanism of Wolff-Parkinson-White syndrome?

_____ of _____ allows conduction from the atria to the ventricles and bypasses the _____ _____

Bundle of Kent allows conduction from the atria to the ventricles and bypasses the AV node

What stimulant is first line for narcolepsy?

______

modafinil

The dorsal scapular artery runs deep to the levator scapulae at the superior angle and then descends along the medial border of the scapula toward the inferior angle.

Normally REM begins about 90 minutes after sleep onset. In narcolepsy, REM can occur within minutes.

DEC REM latency = dec time from falling asleep to entering REM sleep

what fracture?

navicular bone

Name 5 drugs that can cause gynecomastia

DISCO

digoxin, isoniazid, spironolactone, cimetidine, oestrogen

Altered activity of what dopaminergic pathway can lead to gynecomastia in males?

______ pathway

Tuberoinfundibular

Why might tamoxifen be used in a prostate cancer patient?

To prevent ________ while undergoing prostate cancer treatment

To prevent gynecomastia while undergoing prostate cancer treatment

A 55-year-old woman has 5 weeks of lateral hip pain that worsens with prolonged standing. She can no longer sleep on the affected side. Exam shows focal tenderness over the lateral hip, full hip range of motion, and a normal neurologic exam. Which diagnosis is most likely?
A. Femoral neck stress fracture
B. Hip osteoarthritis
C. Greater trochanteric pain syndrome
D. Avascular necrosis of femoral head

C. Greater trochanteric pain syndrome

A 68-year-old woman has progressive deep groin pain and morning stiffness that improves after several minutes of walking. Exam shows decreased internal rotation and pain with passive range of motion of the hip. Which diagnosis is most likely?
A. Hip osteoarthritis
B. Greater trochanteric pain syndrome
C. Femoral neck stress fracture
D. Lumbar radiculopathy

A. Hip osteoarthritis

A 42-year-old man with chronic glucocorticoid use develops deep groin pain that worsens with weight-bearing. Hip range of motion is painful, especially internal rotation. Which diagnosis is most likely?
A. Femoral neck stress fracture
B. Avascular necrosis of femoral head
C. Greater trochanteric pain syndrome
D. Hip osteoarthritis

B. Avascular necrosis of femoral head

A 24-year-old distance runner develops gradually worsening anterior groin pain after increasing weekly mileage. Pain is worse with weight-bearing and improves with rest. Exam shows pain with hopping on the affected leg. Which diagnosis is most likely?
A. Greater trochanteric pain syndrome
B. Avascular necrosis of femoral head
C. Hip osteoarthritis
D. Femoral neck stress fracture

D. Femoral neck stress fracture

What services do part A of Medicare give?

medical admissions

What services does part B of Medicare provide?

basic medical bills

What services does part C of Medicare provide?

hospital admissions AND basic medical bills.

This is delivered by approved private companies.

What services does part D of Medicare provide?

prescribed drugs

What organization has providers who voluntarily enroll to give care to their Medicare patients?

_____ _____ Organization

Accountable Care Organization

In an accountable care organization, what type of insurance typically covers the costs of services?

_____

Medicare

What is the term for retrograde flow of urine from the bladder to the upper urinary tract?

______ reflux

Vesicoureteral reflux

What is a patient with vesicoureteral reflux at increased risk for?

Recurrent _____ tract infections

Recurrent urinary tract infections

Primary vesicoureteral reflux → Insufficient/abnormal ______ of the ______ within the vesicular wall
Secondary vesicoureteral reflux → Increased ______ in the ______ leading to retrograde flow

Primary vesicoureteral reflux → Insufficient/abnormal insertion of the ureter within the vesicular wall
Secondary vesicoureteral reflux → Increased pressure in the bladder leading to retrograde flow

Impairment at which point is responsible for the pathophysiology of Li-Fraumeni syndrome and cervical cancer?

The ____-____ checkpoint

The G₁-S checkpoint

Which phase of the cell cycle has a variable duration?

______ phase

G₁ phase

Which phase of the cell cycle is usually the shortest?

______ phase

M phase

During which phase of the cell cycle can a cell enter the G₀ phase?

______ phase

G₁ phase

What two processes occur during the M phase?

[...]
[...]

Mitosis
Cytokinesis

What is the mechanism by which the p53 protein inhibits the progression of the cell cycle?

Damaged DNA → p53 induces _____→ Inhibits _____→ Hypophosphorylates (activates) _____ protein → Inhibits progression from _____ phase to _____ phase

Damaged DNA → p53 induces p21 → Inhibits CDK → Hypophosphorylates (activates) retinoblastoma protein → Inhibits progression from G₁ phase to S phase

How do growth factors promote the transition of a cell from the G₁ phase to the S phase?

By binding to _____ _____ receptors

By binding to tyrosine kinase receptors

What are cyclins?
A. Proteins that degrade CDKs
B. Regulatory proteins that activate CDKs
C. Enzymes that repair DNA breaks
D. Receptors that bind growth factors

B. Regulatory proteins that activate CDKs

Cyclins activate CDKs at which point?
A. Randomly throughout the cell cycle
B. Only after DNA damage occurs
C. At appropriate cell-cycle times
D. Only during the G0 phase

C. At appropriate cell-cycle times

Growth factors stimulate cyclins to activate which proteins?
A. CDKs
B. Caspases
C. Cyclooxygenases
D. Collagenases

A. CDKs

Labile

Stable

Permenant

A receptor-ligand complex is internalized into an endosome. Which fate involves destruction of the internalized material?
A. Return to Golgi apparatus
B. Recycling to plasma membrane
C. Transport to rough ER
D. Delivery to lysosomes

D. Delivery to lysosomes

A cell internalizes LDL particles and later reuses the LDL receptors on its surface. Through which endosomal function does this occur?
A. Lysosomal degradation
B. Recycling pathway
C. Peroxisomal oxidation
D. Proteasomal digestion

B. Recycling pathway

Which protein coats vesicles involved in receptor-mediated endocytosis?
A. Dynamin
B. Caveolin
C. Clathrin
D. Spectrin

C. Clathrin

Clathrin functions to transport vesicles from the trans-Golgi apparatus to which organelle?

Lysosome

In the Golgi apparatus, the addition of what carbohydrate to proteins makes them a target for lysosomes?

Mannose-6-phosphate

COPI = ______ transport

• ______ → ______

COPI = retrograde

• Golgi → ER

COPI goes back to step 1.

COPII = ______ transport

• ______ → ______

COPII = anterograde

• ER → Golgi

COPII → ER to Golgi is step 2/forward.

What are the three posttranslational modifications that occur in the Golgi apparatus?

Modification of ___-____________ on asparagine
Addition of ___-____________ on serine and threonine
Addition of ____________ to proteins

Modification of N-oligosaccharides on asparagine
Addition of O-oligosaccharides on serine and threonine
Addition of mannose-6-phosphate to proteins

List three locations to which the Golgi apparatus sends proteins and lipids.
_____ _____

_____

_____ _____

Plasma membrane
Lysosomes
Secretory vesicles

The Golgi apparatus acts as a distribution center for what macromolecules?

____

____

proteins

lipids

What is the pathophysiology of inclusion-cell disease?

Inability of Golgi apparatus to phosphorylate ______ on glycoproteins → Extracellular secretion of ______ ______ → Lack of ______ enzymes → ______ bodies

Inability of Golgi apparatus to phosphorylate mannose on glycoproteins → Extracellular secretion of lysosomal enzymes → Lack of digestive enzymes → Inclusion bodies

A child has a severe Hurler-like disorder due to failed phosphorylation of mannose residues on lysosomal enzymes. What enzyme defect explains this?
A. N-acetylglucosaminyl-1-phosphotransferase
B. α-galactosidase A
C. Sphingomyelinase
D. Arylsulfatase A

A. N-acetylglucosaminyl-1-phosphotransferase

In inclusion-cell disease, lysosomal enzymes are elevated in plasma because they fail to receive which targeting signal?
A. Mannose-6-phosphate
B. Nuclear localization signal
C. Ubiquitin tag
D. KDEL sequence

A. Mannose-6-phosphate

A boy has coarse facial features, gingival hyperplasia, corneal clouding, claw hand, kyphoscoliosis, and high plasma lysosomal enzymes. What is the inheritance pattern?
A. X-linked recessive
B. Autosomal dominant
C. Autosomal recessive
D. Mitochondrial inheritance

C. Autosomal recessive

this is inclusion-cell disease

A child has symptoms similar to Hurler syndrome but more severe, with elevated plasma lysosomal enzymes. What is the prognosis?
A. Normal adult lifespan
B. Fatal in childhood
C. Improves after puberty
D. Limited to joint disease

B. Fatal in childhood

this is inclusion-cell disease

CT of appendicitus

Which mechanism is the most common cause of appendicitis in adults?
A. Lymphoid hyperplasia
B. Fecalith obstruction
C. Volvulus
D. Intussusception

B. Fecalith obstruction

A 10-year-old boy develops acute appendicitis after a recent viral illness. Which underlying cause is most likely?
A. Fecalith obstruction
B. Adenocarcinoma
C. Lymphoid hyperplasia
D. Diverticulitis

C. Lymphoid hyperplasia

Acute appendicitis is typically caused by polymicrobial infection. Which pair of organisms is most commonly isolated?
A. Staphylococcus aureus and Enterococcus faecalis
B. Clostridium difficile and Klebsiella pneumoniae
C. Bacteroides fragilis and Escherichia coli
D. Salmonella enterica and Shigella sonnei

C. Bacteroides fragilis and Escherichia coli

A patient develops numbness over the right suprapubic region following an appendectomy. Injury to which nerve is most likely responsible?
A. Ilioinguinal nerve
B. Genitofemoral nerve
C. Iliohypogastric nerve
D. Lateral femoral cutaneous nerve

C. Iliohypogastric nerve

Referred abdominal wall pain from acute appendicitis may produce viscerosomatic reflexes in which spinal cord segments?
A. T4–T6
B. T7–T9
C. T10–T12
D. L1–L3

C. T10–T12

A surgeon is unable to immediately visualize the appendix during surgery. Following which anatomic landmark will most reliably lead to its base?
A. Inferior mesenteric artery
B. Teniae coli
C. Ileocecal valve
D. Pectinate line

B. Teniae coli

A child presents with fever, periumbilical pain that later localizes to the right lower quadrant, and leukocytosis. Which sequence best describes the pathogenesis of acute appendicitis in children?
A. Fecalith → ischemia → infection
B. Lymphoid hyperplasia → obstruction → bacterial overgrowth
C. Diverticulum → perforation → abscess
D. Volvulus → necrosis → fibrosis

B. Lymphoid hyperplasia → obstruction → bacterial overgrowth

Cilia: These consist of _____ arranged in _____ doublets around _____ central singlets.

Cilia: These consist of microtubules arranged in 9 doublets around 2 central singlets.

Basal body: This is located at the _____ of the cilium, below the cell _____.

This consists of _____ microtubule triplets without any central microtubules.

Basal body: This is located at the base of the cilium, below the cell membrane.

This consists of 9 microtubule triplets without any central microtubules.

What ATPase protein links the peripheral nine doublets and allows for bending of the cilia by differential sliding of the doublets?

____ ____

Axonemal dynein

What cell junctions allow for coordinated movement of cilia?

_____ junctions

Gap junctions

What type of cilia act as chemical signal sensors and play a role in signal transduction and control of cell growth?

[Motile/Non-motile] cilia

Non-motile cilia

Non-motile cilia are aka _____ cilia

primary

Which conditions may occur due to dysgenesis of non-motile cilia?

____ degeneration (eye thing)
____ kidney disease
____ ____ ____ (heart thing)

Retinal degeneration
Polycystic kidney disease
Mitral valve prolapse

What type of collagen is defective in Alport syndrome?

Type [...] collagen

Type IV collagen

type 1 collagen: _____

type 2 collagen: _____

type 3 collagen: _____

type 4 collagen: _____

skeleton

cartilage

arteries

basement membrane

What structures are composed of type II collagen?

____

____ ____ (spine thing)

____ body (eye thing)

Cartilage

Nucleus Pulposus

vitreous body

In what structures can type IV collagen be found?
____ ____
____

Basement membrane

Lens

What is the basic role of collagen in the body?

_____ and _____ to the extracellular matrix

Strength and organization to the extracellular matrix

Which enzyme catalyzes the covalent cross-linking of lysine and hydroxylysine residues to make collagen fibrils?

____ ____

Lysyl oxidase

Cleavage of the terminal disulfide-rich regions from procollagen results in the formation of what collagen derivative?

_____. This would be _____.

Tropocollagen. This would be insoluble.

In which cellular space is tropocollagen formed?

Extracellular space

Where does collagen synthesis mainly occur inside the cell?

Rough ER

Individual collagen α chains are also referred to as what?

_______

Preprocollagen

Which amino acid residue is glycosylated in collagen synthesis?

hydroxy______

Hydroxylysine

Which collagen precursor is exocytosed from the cell into the extracellular space during collagen production?

______

Procollagen

What changes in the cross-linking of collagen occur with aging?

Cross-linking of collagen [increases/decreases] with age

Cross-linking of collagen increases with age

Name two cytoskeletal elements that are described as microfilaments.

____
____

Actin

Microvilli

What are the three major types of cytoskeletal elements?

Microfilaments

Intermediate filaments

Microtubules

What type of cytoskeleton filament is involved in muscle contraction and cytokinesis?

Microfilaments. An example of this is actin.

What is the major function of intermediate filaments?

Maintain cell structure

Cytokeratin, desmin, GFAP, lamins, neurofilaments, and vimentin are examples of what type of cytoskeletal element?

Intermediate filaments

Which type of cytoskeletal element functions to move a cell and assists in cell division?

Microtubules

Cilia, flagella, mitotic spindles, and centrioles are examples of which cytoskeletal element?

Microtubules

What is the function of fibrillin-1?

It is a glycoprotein that forms a _____ around _____ and sequesters _____

It is a glycoprotein that forms a sheath around elastin and sequesters TGF-β

What enzyme is inhibited by α₁-antitrypsin?

_____

Elastase

In which cellular compartment does cross-linking of elastin by lysyl oxidase occur?

Extracellular space

What valvular abnormality is most commonly associated with Marfan syndrome?

Mitral valve prolapse

How is lens dislocation in Marfan syndrome different from that in homocystinuria?

Lens dislocate [upward/downward] and [...] in Marfan syndrome
Lens dislocate [upward/downward] and [...] in homocystinuria

Lens dislocate upward and temporal in Marfan syndrome
Lens dislocate downward and nasal in homocystinuria

(marfan fans out)

Intellectual abilities in Marfans and Homocystinuria?

Marfans normal

Homocystinuria decreased

What is the mode of inheritance of Marfan syndrome?

Autosomal dominant

A mutation in what gene is responsible for a tall child presenting with arachnodactyly, hypermobile joints, and pectus excavatum?

A mutation in _____ on chromosome _____

A mutation in FBN1 on chromosome 15

Marfans

delete

delete

What protein is abundantly found in the vocal cords, epiglottis, lungs, large arteries, elastic ligaments, skin, and ligamenta flava?

Elastin

What is the most common cause of sudden death in a patient with Marfan syndrome?

Aortic root _____
Aortic root aneurysm _____

Aortic root dissection
Aortic root aneurysm rupture

Which disease presents with an increased arm to height ratio, pectus deformity, skin hyperelasticity, arachnodactyly, and scoliosis similar to Marfan syndrome?

Homocystinuria

The most critical difference is that _____ affects the heart and cardiovascular system, while _____ leads to blood clots and intellectual disability.

Marfans

homosyntinuria

What is the most common enzyme deficiency leading to homocystinuria?

A. Cystathionine synthase
B. Cystathionine hydroxylase
C. Branched-chain cystathionine dehydrogenase
D. Cystathionine uridyltransferase

A. Cystathionine synthase

Elastin is rich in which amino acids?

A. Proline, glycine, lysine
B. Hydroxyproline, hydroxylysine, cysteine
C. Alanine, valine, methionine
D. Tryptophan, tyrosine, phenylalanine

A. Proline, glycine, lysine

Which vascular pathology is associated with Marfan syndrome?

A. Cystic medial necrosis of the aorta
B. Berry aneurysm of the circle of Willis
C. Coronary artery vasculitis
D. Hyaline arteriolosclerosis

A. Cystic medial necrosis of the aorta

What is arachnodactyly?

A. Long, tapering fingers and toes
B. Short, broad fingers and toes
C. Curved fingers with joint fusion
D. Webbed fingers and toes

A. Long, tapering fingers and toes

HSV, poliovirus, and rabies virus use which molecular motor protein for retrograde transport to reach the cell body?

_____

Dynein

How many GTP molecules are bound to each microtubule heterodimer?

2

What motor protein is responsible for anterograde transport of cargo on microtubules?

_____

Kinesin

Name the antifungal agent that targets microtubules.

_____

Griseofulvin

Vinca alkaloids, which are used as anticancer drugs, act on what cytoskeletal element?

Microtubules

Name the antigout drug that targets microtubules.

____

Colchicine

What are microtubules composed of?

A. Polymerized homodimers of α-tubulin and β-tubulin
B. Polymerized heterodimers of α-tubulin and β-tubulin
C. Unpolymerized heterodimers of α-tubulin and β-tubulin
D. Unpolymerized homodimers of α-tubulin and β-tubulin

B. Polymerized heterodimers of α-tubulin and β-tubulin

Microtubules are involved in _____ axoplasmic transport in _____.

Microtubules are involved in slow axoplasmic transport in neurons.

Clostridium tetani reaches the central nervous system by traveling within neurons using which motor protein?

A. Kinesin
B. Dynein
C. Myosin
D. Actin

B. Dynein

Clostridium tetani uses dynein-mediated transport in which direction along a microtubule?

A. Negative end to positive end
B. Positive end to positive end
C. Positive end to negative end
D. Negative end to negative end

C. Positive end to negative end

The movement of Clostridium tetani from peripheral nerves toward the spinal cord is best described as:

A. Anterograde transport
B. Retrograde transport
C. Passive diffusion
D. Saltatory conduction

B. Retrograde transport

A toxin moves from a nerve terminal back to the neuronal cell body along microtubules. Which mechanism is being utilized?

A. Kinesin-mediated anterograde transport
B. Dynein-mediated retrograde transport
C. Actin-mediated contraction
D. Passive axoplasmic flow

B. Dynein-mediated retrograde transport

What is the pathophysiology of a disease in a child with poor dentition, blue sclerae, and fractures and bone deformities after minimal trauma as shown in the image?

Decreased production of type [...] collagen

Decreased production of type I collagen

The doctrine of ____ ____ states that it is ethical for physicians to provide palliative therapy to relieve pain and suffering even if such treatment may hasten a patient’s death.

double effect

Referred pain in the shoulder from gallbladder disease results from ____ irritation and refers pain via the ____ nerve.

Referred pain in the shoulder from gallbladder disease results from diaphragmatic irritation and refers pain via the phrenic nerve.

Tourette syndrome is often treated with a ____ receptor antagonist, but parkinsonism is a possible side effect of this class of drugs. When a tic disorder is combined with ADHD, an ____ adrenergic receptor agonist would be a more appropriate choice, as this would treat both disorders.

D₂

alpha2

What is the cause of conductive hearing loss in a child with recurrent fractures and blue sclerae?

Abnormal _____

Abnormal ossicles

What is the pathophysiology behind milky teeth in patients with osteogenesis imperfecta?

Lack of ____ → Teeth that become worn out easily

Lack of dentin → Teeth that become worn out easily

How is the most common form of osteogenesis imperfecta inherited?

Autosomal dominant

What medication can help reduce the incidence of fractures in patients with osteogenesis imperfecta?

Bisphosphonates

What are the manifestations of osteogenesis imperfecta?

____ fractures
____ sclerae
____ imperfections
____ loss

Multiple fractures
Blue sclerae
Dental imperfections
Hearing loss

What are the most common genetic mutations involved in osteogenesis imperfecta?

COL1A1

COL1A2

What causes blue sclerae in osteogenesis imperfecta?

_____ connective tissue overlying _____ veins

Translucent connective tissue overlying choroidal veins

What are three important clinical manifestations of Zellweger syndrome?

____
____
____

Hepatomegaly
Hypotonia
Seizures

What is the mode of inheritance of Zellweger syndrome?

Autosomal recessive

A mutation in which gene is implicated in Zellweger syndrome?

____ gene

PEX gene

What is synthesized in peroxisomes?

____ ____

____

Bile acids
Plasmalogens

What are plasmalogens?

Important membrane phospholipids necessary for the ____ ____ of the central nervous system

Important membrane phospholipids necessary for the white matter of the central nervous system

What organelle is responsible for the catabolism of ethanol and amino acids?

_____

Peroxisome

What two metabolic processes occur strictly in peroxisomes?

___-oxidation of branched-chain fatty acids
___-oxidation of very-long-chain fatty acids

α-oxidation of branched-chain fatty acids
β-oxidation of very-long-chain fatty acids

What organs are primarily affected by the accumulation of very-long-chain fatty acids in adrenoleukodystrophy?

____
____ glands
____ ____ of the brain

Testes
Adrenal glands
White matter of the brain

this is a deficiency in b-oxidation in peroxisomes

adrenoleukodystrophy mode of inheritance?

x-linked recessive

What are the long-term consequences of adrenoleukodystrophy?

_____ gland crisis
Progressive loss of _____ function
_____

Adrenal gland crisis
Progressive loss of neurologic function
Death

A mutation in which gene is associated with adrenoleukodystrophy?

_____ gene

ABCD1 gene

Refsum disease results from overaccumulation of which fatty acid?

Phytanic acid

Which combination of findings is most suggestive of Refsum disease?

A. Ataxia, scaly skin, night blindness, shortened fourth toes
B. Tremor, hepatomegaly, cataracts, hypoglycemia
C. Seizures, angiokeratomas, renal failure
D. Macroglossia, cardiomyopathy, neuropathy

A. Ataxia, scaly skin, night blindness, shortened fourth toes

Refsum disease results from impairment of which metabolic process?

A. b-oxidation of branched-chain fatty acids in peroxisomes
B. α-oxidation of branched-chain fatty acids in peroxisomes
C. α-oxidation of very long chain fatty acids in peroxisomes
D. b-oxidation of very long chain fatty acids in peroxisomes

B. α-oxidation of branched-chain fatty acids in peroxisomes

A child is diagnosed with Refsum disease. What is the mode of inheritance?

Autosomal recessive

Which treatment is appropriate for a patient with Refsum disease?

A. High-protein diet and folate supplementation
B. Dietary modification to reduce phytanic acid intake
C. Enzyme replacement therapy
D. Bone marrow transplantation

B. Dietary modification to reduce phytanic acid intake

A patient with severe Refsum disease has markedly elevated phytanic acid levels despite dietary restriction. Which additional therapy may be used?

A. Hemodialysis
B. Plasmapheresis
C. Exchange transfusion
D. Splenectomy

B. Plasmapheresis

What is the mode of inheritance of mucopolysaccharidoses, excluding Hunter syndrome?

Autosomal recessive

What is the mode of inheritance of the multiple endocrine neoplasias?

Autosomal dominant

What is the mode of inheritance of hereditary spherocytosis?

Autosomal dominant

Which organ is most responsible for development of anemia in patients with hereditary spherocytosis?

Spleen

What two lab tests can confirm hereditary spherocytosis?

____ fragility test

____ binding test

Osmotic fragility test

EMA binding test

Defects in what four proteins are responsible for the red blood cell morphology seen in hereditary spherocytosis?

____, ____, Band ____, Protein ____

Ankyrin, Spectrin, Band 3, Protein 4.2

What are the red blood cell indices that define hereditary spherocytosis?

_____ or _____ mean corpuscular volume
_____ mean corpuscular hemoglobin concentration
_____ red blood cell count

Normal or decreased mean corpuscular volume
Increased mean corpuscular hemoglobin concentration
Increased red blood cell count

What is the best treatment for hereditary spherocytosis?

_____

Splenectomy

In hereditary spherocytosis- a peripheral blood smear will show red blood cells without ____ ____.

central pallor

What is the mode of inheritance of hereditary hemorrhagic telangiectasia?

Autosomal dominant

This is also known as Osler-Weber-Rendu syndrome.

What is the mode of inheritance of familial hypercholesterolemia?

Autosomal dominant

What is the mode of inheritance of sickle cell disease?

Autosomal recessive

What is the mode of inheritance of familial adenomatous polyposis?

Autosomal dominant

What findings do you expect on a colonoscopy performed for a patient with familial adenomatous polyposis?

______ of polyps

Thousands of polyps

In FAP, you should do prophylactic ______

prophylactic colectomy

What percentage of patients with familial adenomatous polyposis develop colorectal cancer?

100%

What is the specific genetic mutation of familial adenomatous polyposis?

Autosomal dominant mutation of _____ gene on chromosome 5q21-q22

Autosomal dominant mutation of APC gene on chromosome 5q21-q22

What is the mode of inheritance of glycogen storage diseases?

Autosomal recessive

What is the mode of inheritance of von Hippel-Lindau disease?

Autosomal dominant

What is the mode of inheritance of hemochromatosis?

Autosomal recessive

What is the mode of inheritance of tuberous sclerosis?

Autosomal dominant

What is the mode of inheritance of the polycystic kidney disease that most commonly manifests at a younger age?

Autosomal recessive

What is the mode of inheritance of oculocutaneous albinism?

Autosomal recessive

What is the mode of inheritance of the thalassemias?

Autosomal recessive

What is the mode of inheritance of Friedreich ataxia?

Autosomal recessive

What is the first clinical sign of Friedreich ataxia most commonly seen in children?

______

Kyphoscoliosis

Which cellular organelles are dysfunctional in Friedreich ataxia?

______

mitochondria

What protein is dysfunctional in Friedreich ataxia?

_____

Frataxin

A child with Friedreich ataxia needs monitoring for what endocrine disease?

_____ _____

Diabetes mellitus

For what lethal complication should a patient with Friedreich ataxia be frequently monitored?

______ cardiomyopathy

Hypertrophic cardiomyopathy

What can be observed while a patient with Friedreich ataxia is walking?

_____ gait

_____ falls

Staggering gait

frequent falls

Which region of the nervous system is affected in Friedreich ataxia?

_____ _____

Spinal Cord. It involves the lateral corticospinal tract, spinocerebellar tract, dorsal columns, and dorsal root ganglia.

What is the mode of inheritance of Wilson disease?

Autosomal recessive

What gene is mutated in patients with Wilson disease?

______ gene on chromosome ______

ATP7B gene on chromosome 7

In Wilson disease, serum ceruloplasmin is decreased because defective ATP7B causes:

A. Increased copper binding to albumin
B. Decreased copper excretion into bile
C. Increased copper absorption in the gut
D. Decreased copper uptake by enterocytes

B. Decreased copper excretion into bile

Why is ceruloplasmin decreased in Wilson disease?

A. Copper cannot be incorporated into apoceruloplasmin
B. Copper cannot be incorporated into bile
C. Copper is trapped in apoceruloplasmin
D. Apoceruloplasmin cannot be incorporated into bile

A. Copper cannot be properly incorporated into apoceruloplasmin

What are the 4 major organs affected by excessive copper deposition in those with Wilson disease?

____, ____, ____, ____

liver, brain, kidneys, cornea

What are the copper deposits in the eye of a patient with Wilson disease called?

Kayser-Fleischer rings

What type of anemia is typically associated with Wilson disease?

Hemolytic anemia

A patient with Wilson disease presents with encephalopathy secondary to copper toxicity. What two therapies may be used?

Chelation with ____ or ____

Oral ____

Chelation with penicillamine or trientine
Oral zinc

What is the mode of inheritance of neurofibromatosis type 1?

Autosomal dominant

These are _____ lesions characteristic of neurofibromatosis type I.

These are neurocutaneous lesions characteristic of neurofibromatosis type I.

Which bony lesion is common in patients with neurofibromatosis type I?

______ dysplasia

Sphenoid dysplasia

What is the lesion shown in the image, seen on the skin of patients with neurofibromatosis type I, called?

Café-au-lait spot

The NF1 tumor suppressor gene normally produces which protein?

A. Merlin
B. Neurofibromin
C. Fibrillin-1
D. Hamartin

B. Neurofibromin

What is another name for neurofibromatosis type I?

A. Sturge-Weber syndrome
B. Tuberous sclerosis
C. Von Recklinghausen disease
D. Von Hippel-Lindau disease

C. Von Recklinghausen disease

Focal neurologic signs seen in patients with neurofibromatosis type I are usually due to what lesion? ______

Meningioma

Which eye finding is associated with neurofibromatosis type I?

A. Kayser-Fleischer rings
B. Cherry-red macula
C. Lisch nodules
D. Brushfield spots

C. Lisch nodules

Which CNS tumor is associated with neurofibromatosis type I?

A. Optic glioma
B. Medulloblastoma
C. Ependymoma
D. Hemangioblastoma

A. Optic glioma

Which endocrine tumor can occur in neurofibromatosis type I?

A. Insulinoma
B. Pheochromocytoma
C. Prolactinoma
D. Thyroid adenoma

B. Pheochromocytoma

Which neurodevelopmental feature may be seen in neurofibromatosis type I?

A. Intellectual disability
B. Early-onset dementia
C. Personality regression
D. Loss of pain sensation

A. Intellectual disability

What is the mode of inheritance of neurofibromatosis type 2?

Autosomal dominant

What mutation causes neurofibromatosis type II?

_____ tumor suppressor gene on chromosome _____

NF2 tumor suppressor gene on chromosome 22

What protein is typically produced by the NF2 tumor suppressor gene?

A. Merlin
B. Neurofibromin
C. Fibrillin-1
D. Hamartin

A. Merlin

This is also known as schwannomin protein. This is defective in neurofibromatosis type 2.

Bilateral S-100–positive masses are resected from the cerebellopontine angles. What is the diagnosis?

A. Neurofibromatosis type I
B. Tuberous sclerosis
C. Neurofibromatosis type II
D. Von Hippel-Lindau disease

C. Neurofibromatosis type II

Which tumor is classically bilateral in neurofibromatosis type II?

A. Vestibular schwannomas
B. Optic gliomas
C. Neurofibromas
D. Hemangioblastomas

A. Vestibular schwannomas

Which eye finding is associated with neurofibromatosis type II?

A. Lisch nodules
B. Juvenile cataracts
C. Kayser-Fleischer rings
D. Cherry-red spot

B. Juvenile cataracts

Which CNS tumor is associated with neurofibromatosis type II?

A. Ependymoma
B. Medulloblastoma
C. Glioblastoma
D. Craniopharyngioma

A. Ependymoma

Which meningeal tumor is associated with neurofibromatosis type II?

A. Meningioma
B. Pituitary adenoma
C. Pineoblastoma
D. Oligodendroglioma

A. Meningioma

What is the mode of inheritance of cystic fibrosis?

Autosomal recessive

What is the mode of inheritance of myotonic muscular dystrophy?

Autosomal dominant

Anticipation in myotonic dystrophy occurs through CTG trinucleotide repeat expansion due to instability during _____ meiosis.

maternal

What is the disease mechanism of myotonic dystrophy?

_____ trinucleotide repeat expansion in the _____ gene → Abnormal expression of ____ protein kinase

CTG trinucleotide repeat expansion in the DMPK gene → Abnormal expression of myotonin protein kinase

Myotonic dystrophy: gonadal _____, early _____, _____, muscle _____

Myotonic dystrophy: gonadal atrophy, early balding, cataracts, muscle wasting

What is the mode of inheritance of Li-Fraumeni syndrome?

Autosomal dominant

A patient develops multiple malignancies at a young age, including breast cancer, osteosarcoma, and adrenal cortical carcinoma. A mutation in which tumor suppressor gene is most likely responsible?

A. RB1
B. APC
C. TP53
D. VHL

C. TP53

What is the mode of inheritance of Huntington disease?

Autosomal dominant

Autosomal recessive diseases usually involve defects in which class of proteins? ______

Enzymes

Which 3 neurotransmitters are altered in Huntington disease?

Dopamine is ______

GABA is ______

Ach is ______

Dopamine is inc

GABA is dec

Ach is dec

At what age do symptoms of Huntington disease usually manifest?

____ to ____ years of age

30 to 50 years of age

In Huntington disease, what mechanism is primarily responsible for neuronal cell death?

Excessive _____-receptor binding → _____ excitotoxicity

Excessive NMDA-receptor binding → glutamate excitotoxicity

Huntington disease presents with sudden, jerky, purposeless movements, appearing like _____.

Huntington disease presents with sudden, jerky, purposeless movements, appearing like dancing.

What movement disorder, seen in Huntington disease, manifests as a slow, writhing, snake-like movement of fingers?

_____

Athetosis

Athetosis and chorea are caused by lesions in the ____ ____.

basal ganglia

What 5 features does Huntington disease usually present with?

hint: CADAD

Chorea, Athetosis, Depression, Aggression, Dementia

What med can I give for Huntington disease chorea?

______

tetrabenazine

First-line treatment for chorea includes tetrabenazine, but second-generation atypical antipsychotics like _____ are used if psychiatric symptoms are also present.

olanzapine

Which gross brain findings are seen in Huntington disease?

A. Frontal lobe atrophy with hydrocephalus
B. Putamen and caudate atrophy with ex vacuo ventriculomegaly
C. Hippocampal atrophy with temporal horn enlargement
D. Substantia nigra depigmentation with normal ventricles

B. Putamen and caudate atrophy with ex vacuo ventriculomegaly

The trinucleotide repeat expansion in Huntington disease occurs in which gene on which chromosome?

A. HTT gene on chromosome 4
B. FMR1 gene on chromosome X
C. DMPK gene on chromosome 19
D. FXN gene on chromosome 9

A. HTT gene on chromosome 4

Friedreich ataxia is caused by which genetic abnormality?

A. CAG repeat expansion in the HTT gene on chromosome 4
B. CGG repeat expansion in the FMR1 gene on the X chromosome
C. GAA repeat expansion in the frataxin gene on chromosome 9
D. CTG repeat expansion in the DMPK gene on chromosome 19

C. GAA repeat expansion in the frataxin gene on chromosome 9

In a patient with Friedreich ataxia, what tract symptoms are apparent due to degeneration of the spinocerebellar tract and dorsal columns?

Spinocerebellar tract → _____
Dorsal columns → Decreased sense of _____ and _____

Spinocerebellar tract → ataxia
Dorsal columns → Decreased sense of vibration and proprioception

In a patient with Friedreich ataxia, what tract symptoms are apparent due to degeneration of the lateral corticospinal tracts and dorsal root ganglia?

Lateral corticospinal tracts → spastic _____
Dorsal root ganglia → Loss of _____ _____ _____

Lateral corticospinal tracts → spastic paralysis
Dorsal root ganglia → Loss of deep tendon reflexes

What could be seen on an eye exam of a patient with Friedreich ataxia? ______

Nystagmus

What 2 changes could be seen in the extremities of a patient with Friedreich ataxia?

____ cavus

____ toes

Pes cavus

Hammer toes

What histologic findings are associated with the lesions shown in the image?

____-laden ____

Lipid-laden histiocytes

What is the name of this lesion associated with hyperlipidemia?

____ ____

Arcus senilis

Arcus senilis is a corneal lipid deposit that is common in the elderly or younger patients with ______.

hypercholesterolemia

A patient with a high cholesterol level has this finding on his hands. Name these lesions.

Tendinous _______

Tendinous xanthomas

Name the lesions in the image that are associated with elevated cholesterol.
______

Xanthelasma

What term is used when both alleles of a heterozygote contribute to a phenotype?

_____

Codominance

How do most occurrences of uniparental disomy manifest phenotypically?

Normally

What causes aneuploidy?

A. Chromosomal nondisjunction during meiosis or mitosis
B. Chromosomal nondisjunction during meiosis
C. Expansion of mitochondrial DNA during meiosis or mitosis
D. Expansion of mitochondrial DNA during meiosis

A. Chromosomal nondisjunction during meiosis or mitosis

Epistasis is best described as:

A. One chromosome failing to separate
B. One mutation causing multiple symptoms
C. One gene affecting the phenotype of another gene
D. One allele skipping a generation

C. One gene affecting the phenotype of another gene

What is the treatment for acetaminophen overdose and how does it work?

N-acetylcysteine regenerates _____ depleted by _____ in the overdose → Prevents buildup of _____ metabolites

N-acetylcysteine regenerates glutathione depleted by NAPQI in the overdose → Prevents buildup of toxic metabolites

What byproduct of acetaminophen metabolism can lead to a depletion of glutathione, a buildup of toxic tissue byproducts, and hepatic necrosis with an overdose?

NAPQI

Acetaminophen has antipyretic and analgesic effects, but lacks what property that is common to NSAIDs?

Anti-inflammatory effects

What is the mechanism of action of acetaminophen? Where is it most effective?

Acetaminophen is a _____ _____ inhibitor that is most effective in the _____

Acetaminophen is a reversible cyclooxygenase inhibitor that is most effective in the CNS

Rarely would ______ cause aspartate aminotransferase/alanine aminotransferase elevations above 500 U/L, whereas ______ is one of the few etiologies causing these levels to reach into the thousands.

alcohol

acetaminophen

What pathologic findings would be seen in a liver biopsy specimen obtained from a nonsmoker who presents with shortness of breath and elevated liver enzyme levels?

______-positive ______ within hepatocytes

PAS-positive globules within hepatocytes

The patient likely has α₁-antitrypsin deficiency

What mechanism is responsible for the development of lung disease in patients with α₁-antitrypsin deficiency?

Decreased α₁-antitrypsin → Uninhibited ____ in the alveoli → Decreased ____ tissue → ____ ____

Decreased α₁-antitrypsin → Uninhibited elastase in the alveoli → Decreased elastic tissue → Panacinar emphysema

A young patient presents with dyspnea and has abnormal liver enzyme levels and liver biopsy findings shown in the image. What is the inheritance pattern of the likely diagnosis?

____ trait

Codominant trait

What are the major cellular effects in individuals with α₁-antitrypsin deficiency?

Misfolded gene product protein aggregates in hepatocellular _____ _____ → _____

Misfolded gene product protein aggregates in hepatocellular endoplasmic reticulum → Cirrhosis

A 2-year-old boy born at 32 weeks gestation presents with bony deformities as shown on the X-ray. What is the diagnosis?

Rickets

What two factors predispose to the development of a vitamin D deficiency?

____ skin

____ birth

Dark skin
Premature birth

What preventative measure can be taken to decrease the risk of developing rickets in an exclusively breastfed infant?

Oral vitamin ____ supplementation

Oral vitamin D supplementation

Breast milk is deficient in vitamin D___

This is because breast milk is deficient in vitamin D₃

What conditions are attributed to vitamin D deficiency?

____ in children
____ in adults
____ tetany

Rickets in children
Osteomalacia in adults
Hypocalcemic tetany

In sarcoidosis, ____ occurs because immune cells inside the ____ overproduce active vitamin D.

In sarcoidosis, hypercalcemia occurs because immune cells inside the granulomas overproduce active vitamin D.

What is the function of vitamin D at high and low levels in the bones?

At higher levels, vitamin D increases bone [...]
At lower levels, vitamin D increases bone [...]

At higher levels, vitamin D increases bone resorption
At lower levels, vitamin D increases bone mineralization

Deficiency of vitamin D may lead to what two electrolyte abnormalities?

Hypocalcemia
Hypophosphatemia

What are five common causes of vitamin D deficiency in adults?

______
Insufficient ______ exposure
Poor ______
Chronic ______ disease
Advanced ______ disease

Malabsorption
Insufficient sun exposure
Poor diet
Chronic kidney disease
Advanced liver disease

What are the four regulating factors detected in blood that might increase the production of 1,25-(OH)₂ D₃?

[Increased/Decreased] PTH
[Increased/Decreased] calcium
[Increased/Decreased] phosphate
[Increased/Decreased] 1,25-(OH)₂ D₃

Increased PTH
Decreased calcium
Decreased phosphate
Decreased 1,25-(OH)₂ D₃

1,25-(OH)₂ D₃ is AKA _____

calcitriol

Is this the active or storage form: 1,25-(OH)₂ D₃

active

Is this the active or storage form: 25-OH D₃

storage

Vitamin D₂ and D₃ are converted to 25-OH D₃ (the storage form) and stored in the _____.

liver

What are the four main sources of vitamin D₃?

____ (natural thing)

____ (something to drink)

____ (some living thing)

____ (some living thing)

Sun
Milk
Fish
Plants

What are the three main dietary sources of vitamin D₂?

____ (some living thing)

____ (some living thing)

____ (something to cook with)

Plants
Fungi
Yeasts

Primary hyperparathyroidism can cause ____calcemia and ____phosphatemia

Primary hyperparathyroidism can cause hypercalcemia and hypophosphatemia.

It increases calcium reabsorption
It decreases phosphate reabsorption

An excess of what vitamin may cause hypercalcemia, hypercalciuria, appetite loss, and stupor?

D

Which layer of skin is responsible for the production of vitamin D₃ from exposure to the sun?

Stratum Basale

Where in the body is 25-OH D₃ converted to its active form?

Kidneys

What is achalasia?

Failure of the [upper/lower] esophageal sphincter to relax due to degeneration of _____ neurons in the _____ _____ of the esophageal wall

Failure of the lower esophageal sphincter to relax due to degeneration of inhibitory neurons in the myenteric plexus of the esophageal wall

What is a common presenting symptom of achalasia?

Progressive ____ to both ____ and ____

Progressive dysphagia to both solids and liquids

Name two secondary causes of achalasia.

_____ disease from Trypanosoma cruzi infection
Extraesophageal _____

Chagas disease from Trypanosoma cruzi infection
Extraesophageal malignancies

Achalasia increases the risk of _____ cancer

esophageal

The image shows a dilated _____ with distal _____.

The image shows a dilated esophagus with distal stenosis.

What are the manometry findings in a patient with achalasia?

Absent or uncoordinated ______
[High/Low] lower esophageal sphincter resting pressure

Absent or uncoordinated peristalsis
High lower esophageal sphincter resting pressure

What neurotransmitters are implicated in achalasia?

Achalasia results from degeneration of ____ neurons that contain ____ ____ and ____ ____ peptide

Achalasia results from degeneration of inhibitory neurons that contain nitric oxide and vasoactive intestinal peptide

What are some treatment options for achalasia?

____
____ procedures

Surgery
Endoscopic procedures

What afferent and efferent cranial nerves are involved in the jaw jerk reflex?

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

Afferent → Cranial nerve V₃
Efferent → Cranial nerve V₃

Which afferent and efferent cranial nerves are involved in the gag reflex?

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

Afferent → Cranial nerve IX
Efferent → Cranial nerve X

What afferent and efferent cranial nerves are involved in the pupillary reflex?

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

Afferent → Cranial nerve II
Efferent → Cranial nerve III

What are the afferent and efferent cranial nerves involved in the lacrimation reflex?

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

Afferent → Cranial nerve V₁
Efferent → Cranial nerve VII

What afferent and efferent cranial nerves are involved in the corneal reflex?

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

Afferent → Cranial nerve V₁
Efferent → Cranial nerve VII

What afferent and efferent cranial nerves are involved in the cough reflex?

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

Afferent → Cranial nerve X
Efferent → Cranial nerve X

Which nerve roots are needed for the cremaster reflex?

L1-L2

Which nerve roots are needed for the anal wink reflex?

S3-S4

Which nerve roots are needed for the triceps reflex?

C6-C8

Which nerve roots are needed for the biceps and brachioradialis reflexes?

C5-C6

Which nerve roots are needed for the patellar reflex?

L2-L4

Which nerve roots are needed for the Achilles reflex?

S1-S2

In what age and sex group is Zenker diverticulum most common?

elderly men

What are the expected presenting symptoms of Zenker diverticulum?

_____

_____

_____

_____

_____ mass

halitosis

aspiration

gurgling

dysphagia

neck mass

What is the pathophysiology of Zenker diverticulum?

Esophageal ______ → ______ of mucosa at the ______ triangle

Esophageal dysmotility → Herniation of mucosa at the Killian triangle

Identify labels A, B, and C, shown on this diagram of a Zenker diverticulum.

A → Thyropharyngeus muscle
B → Killian triangle
C → Cricopharyngeus muscle

Is Zenker diverticulum a true or false diverticulum?

false diverticulum

What is the pathophysiology behind the defect shown?

Partial closure of the _____ duct with the _____ portion attached to the _____

Partial closure of the vitelline duct with the patent portion attached to the ileum

An 8-month-old child presents with abdominal pain and bloody stool. Exploratory laparotomy reveals the findings shown in the image. What might be seen on histology?

_____ _____ mucosa

_____ tissue

Heterotopic gastric mucosa

Pancreatic tissue

From which pharyngeal arch subset is Meckel cartilage derived?

1st pharyngeal arch

Persistance of what structure leads to the pathology shown in the image?

Persistance of the _____ duct leads to _____ diverticulum

Persistance of the vitelline duct leads to Meckel diverticulum

What is the most common congenital anomaly of the gastrointestinal tract?

Meckel's diverticulum

By what age do Meckel diverticula typically present?

Commonly by ____ years of age

Commonly by 2 years of age

In approximately what percentage of the population can Meckel diverticula be found?

2%

Meckel diverticula is typically ____ ____ proximal from the ileocecal valve.

2 feet

Approximately what size is a typical Meckel diverticulum?

2 inches

^99mTc-pertechnetate is a diagnositc test for _____ diverticulum and is used for assessing _____ by _____ gastric mucosa.

^99mTc-pertechnetate is a diagnositc test for meckel diverticulum and is used for assessing uptake by heterotropic gastric mucosa.

What kind of diverticulum is a Meckel diverticulum?

True diverticulum

What 4 complications can occur with Meckel diverticulum?

_____
_____
_____
Obstruction near the terminal _____

Hematochezia
Intussusception
Volvulus
Obstruction near the terminal ileum

In which sex is Meckel diverticulum more common?

______ times as likely in ______

2 times as likely in males

What happens to the ileum of a patient with Meckel diverticulum?

______ of the ileum

outpouching of the ileum

Is the Hematochezia of Meckel's diverticulum painless or painful?

It can be both

Name the components of the anterior segment of the eye that are involved in aqueous humor circulation.

____ body
____

____ meshwork
____ of ____
____ vessels

Ciliary body
Iris
Trabecular meshwork
Canal of Schlemm
Episcleral vessels

What receptors are responsible for mydriasis?

____-receptors

a1

Noradrenaline binds to the α₁-receptors of the _____ _____ muscles, leading to _____.

Noradrenaline binds to the α₁-receptors of the dilator pupillae muscles, leading to mydriasis.

How do cholinergic agonists cause miosis?

Cholinergic agonists activate _____ receptors on the _____ _____ muscles → Miosis

Cholinergic agonists activate M₃ receptors on the sphincter pupillae muscles → Miosis

What drug class can be used to increase aqueous humor drainage via the uvea and sclera in patients with open-angle glaucoma?

______ agonists

Prostaglandin agonists

What drug class can be used to increase drainage of aqueous humor via the trabecular meshwork in patients with open-angle glaucoma?

______ agonists

M₃ agonists

What are the two main pathways whereby aqueous humor drains from the anterior chamber?

_____ outflow
_____ outflow

Trabecular outflow
Uveoscleral outflow

What 3 drug classes can be used to reduce production of aqueous humor in patients with open-angle glaucoma?

_____-agonists
_____-blockers
_____ _____ inhibitors

α₂-agonists
β-blockers
Carbonic anhydrase inhibitors

What structure in the anterior eye produces aqueous humor?

[Pigmented/Nonpigmented] epithelium on the ciliary body

Nonpigmented epithelium on the ciliary body

Where is the lens of the eye located?

It is suspended from the ____ ____ by ____ fibers

It is suspended from the ciliary body by zonule fibers

How does the ciliary body help in accommodation of the lens to near and far objects?

______ fibers in the ciliary body change the ______ of the lens to allow for accommodation

Cilliary fibers in the ciliary body change the shape of the lens to allow for accommodation

What is the main blood supply to cranial nerves III and IV?

_____ _____ artery

Posterior cerebral artery

What two arteries mainly supply blood to cranial nerves V, VII, and VIII?

_____ _____ _____ artery with _____ artery

Anterior inferior cerebellar artery with labyrinthine artery

What is the main blood supply to cranial nerve VI?

_____ artery

Basilar artery

What is the main blood supply to cranial nerves IX, X, and XI?

_____ artery
_____ _____ _____ artery

Vertebral artery
Posterior inferior cerebellar artery

What is the main blood supply to cranial nerve XII?

_____ _____ artery

Anterior spinal artery

How many normal gametes are produced during gametogenesis if nondisjunction occurs during meiosis II?

2

How many normal gametes are produced during gametogenesis if nondisjunction occurs during meiosis I?

0

Which two trisomy disorders may present with severe intellectual disability, rocker-bottom feet, and congenital heart disease?

[...] syndrome
[...] syndrome

Edwards syndrome
Patau syndrome

What disease is suspected if a newborn with evidence of Down syndrome on prenatal screening does not pass meconium after birth but is not vomiting?

Hirschsprung disease

Prenatal screening markers show low β-hCG and low PAPP-A. What are the possible diagnoses?

[...] syndrome
[...] syndrome

Edwards syndrome
Patau syndrome

What changes may be noted in hCG, inhibin A, estriol, and α-fetoprotein levels if a fetus is suspected to have Edwards syndrome?

[High/Low] hCG levels
[High/Low] inhibin A levels
[High/Low] estriol levels
[High/Low] α-fetoprotein levels

Low hCG levels
Low inhibin A levels
Low estriol levels
Low α-fetoprotein levels

What are the prenatal screening markers for Down syndrome?

[High/Low] hCG levels
[High/Low] inhibin A levels
[High/Low] estriol levels
[High/Low] α-fetoprotein levels

High hCG levels
High inhibin A levels
Low estriol levels
Low α-fetoprotein levels

A hypoplastic nasal bone and an increase in nuchal translucency is present on a fetal ultrasound exam. What is the diagnosis?

Down syndrome

What is the life expectancy of a child born with either trisomy 13 or trisomy 18?

Death usually occurs by age [...]

1

Females of which age group are at an increased risk of having a child with Down syndrome?

Females of _____ maternal age

Females of advanced maternal age

A newborn has microcephaly, microphthalmia, cleft palate, cutis aplasia, holoprosencephaly, an extra digit, polycystic kidney disease, and an omphalocele. What is the diagnosis?

Patau syndrome

A newborn has exam findings of a single palmar crease, incurved fifth finger, a gap between the first two toes, flat facies, and prominent epicanthal folds. What is the diagnosis?

Down syndrome

Impairment of what embryonic process results in the midline defects seen in Patau syndrome?

Impairment in the fusion of the _____ _____

Impairment in the fusion of the prechordal mesoderm

What hematologic malignancies are associated with Down syndrome?

____ (> 5 years of age)
____ (< 5 years of age)

ALL (> 5 years of age)
AML (< 5 years of age)

What are two causes of Down syndrome that occur less commonly than meiotic nondisjunction?

_____ _____ translocation
_____ _____ error

Unbalanced Robertsonian translocation
Postfertilization mitotic error

What ophthalmologic finding may be present in a patient with Down syndrome?

Brushfield spots

Brushfield spots are _____ spots at the margin of the _____.

Brushfield spots are whitish spots at the margin of the iris.

What are the five A's of Down syndrome?

______ maternal age
______
______ septal defect
______ disease
______/______

Advanced maternal age
Atresia
Atrioventricular septal defect
Alzheimer disease
AML/ALL

What are the major signs and symptoms of Edwards syndrome?
_____ occiput
_____-_____ feet
_____ disability
_____ fists with overlapping fingers
_____ that are low-set

Prominent occiput
Rocker-bottom feet
Intellectual disability
Clenched fists with overlapping fingers
Ears that are low-set

Why are autosomal monosomies usually incompatible with life?

There is a high risk for expression of _____ traits of the affected chromosome

There is a high risk for expression of recessive traits of the affected chromosome

What type of hernia is commonly seen in patients with Down syndrome?

Umbilical hernia

Why is Down syndrome associated with early-onset Alzheimer disease?

Chromosome 21 codes for _____ _____ protein

Chromosome 21 codes for amyloid precursor protein

_____ of amyloid precursor protein can lead to early-onset Alzheimer disease.

Mutations

Which nerves exit the intervertebral foramina below their correspondingly named vertebrae?

T1 and below

Which nerves exit the intervertebral foramina above their correspondingly named vertebrae?

C1 to C7

How many pairs of cervical, thoracic, lumbar, sacral, and coccygeal spinal nerves are there?

Cervical → [...]
Thoracic → [...]
Lumbar → [...]
Sacral → [...]
Coccygeal → [...]

Cervical → 8
Thoracic → 12
Lumbar → 5
Sacral → 5
Coccygeal → 1

What is the difference in the onset of action between heparin and warfarin?

Heparin → _____ onset
Warfarin → _____ onset

Heparin → Rapid onset
Warfarin → Slow onset

H for hurry

Which is teratogenic, heparin or warfarin?

Warfarin. war against kids

Compare the duration of action between warfarin and heparin.

Heparin → _____
Warfarin → _____

Heparin → Hours
Warfarin → Days

Compare the site of action between warfarin and heparin.

Heparin → ____
Warfarin → ____

Heparin → Blood
Warfarin → Liver

What is the difference in administration between heparin and warfarin?

Heparin → _______
Warfarin → _______

Heparin → Parenteral
Warfarin → Oral

What lab tests are used to monitor effectiveness of heparin and warfarin?

Heparin → [...]
Warfarin → [...] and [...]

Heparin → PTT
Warfarin → PT and INR

What is the pathophysiology of carpal tunnel syndrome?

______ nerve is trapped between ______ ______ ligament and ______ bones → Nerve ______ → Pain, paresthesia, and numbness in ______ nerve distribution

Median nerve is trapped between transverse carpal ligament and carpal bones → Nerve compression → Pain, paresthesia, and numbness in median nerve distribution

Where can atrophy be seen in carpal tunnel syndrome?

______ ______

Thenar eminence

What is Guyon canal syndrome and with what sport is it commonly associated?

Compression of ______ nerve at the wrist
Associated with ______

Compression of ulnar nerve at the wrist
Associated with cycling

What is the most common cause of the fracture shown in the image?

Direct ____ with a ____ fist

Direct blow with a closed fist.

This is a metacarpal neck fracture

Which metacarpal is the most commonly fractured in a metacarpal neck fracture?

5th

What condition in the wrist or hand is common to pregnancy, diabetes, hypothyroidism, dialysis-associated amyloidosis, and acromegaly?

Carpal tunnel syndrome

Why is sensation spared in carpal tunnel syndrome?

_____ _____ branch of the _____ nerve enters the hand outside of the carpal tunnel

Palmar cutaneous branch of the median nerve enters the hand outside of the carpal tunnel

What fracture or dislocation may cause Guyon canal syndrome?

_____ of the _____ bone

Hook of the hamate bone

What is the finding?

_____, which is associated with _____

Tophus, which is associated with gout

Joint aspirate under polarized light is shown in the image. What is the likely diagnosis? ______

Gout

What type of meal usually precipitates an acute gout attack?

A large meal of _____-rich foods
_____

A large meal of purine-rich foods
Alcohol

What is podagra?

A painful, swollen _____ joint of the _____

A painful, swollen MTP joint of the big hallux

______ is typically seen in acute gout flares

Podagra is typically seen in acute gout flares

What drugs can be prescribed as long-term treatment for gout to prevent acute flare-ups?

_____ _____ inhibitors

Xanthine oxidase inhibitors

What are the 3 treatment options for an acute gout attack?

_____ (first line)
_____
_____

NSAIDs (first line)
Glucocorticoids
Colchicine

Are serum uric acid levels always elevated during gout flares?

No

Describe the appearance of a monosodium urate crystal on microscopic examination.

_____ shaped with [birefringence/no birefringence] under polarized light

Needle shaped with no birefringence under polarized light

The monosodium urate crystal is _____ under perpendicular light and _____ under parallel light.

The monosodium urate crystal is blue under perpendicular light and yellow under parallel light.

Describe the general cause of gout attacks associated with Lesch-Nyhan syndrome and tumor lysis syndrome.

______ of uric acid

Overproduction of uric acid

Describe the general cause of gout attacks associated with renal failure and use of thiazide diuretics.

______ of uric acid

Underexcretion of uric acid

Is gout more common among male patients or female patients?

[Male/Female] patients

Male

Does gout typically present in a symmetric or asymmetric joint distribution?

Asymmetric distribution

Gout is caused by precipitation of what crystals in joint spaces?

Monosodium urate crystals

Name 4 risk factors that can precipitate an acute gout attack that do not involve the patient's diet.

____
____
____
____

Surgery
Trauma
Diuresis
Dehydration

How does alcohol use increase the risk for an acute gout flare?

Alcohol metabolites compete with ____ ____ for excretion sites in the ____→ Decreased excretion of ____ ____

Alcohol metabolites compete with uric acid for excretion sites in the kidney → Decreased excretion of uric acid

What is the strongest risk factor for gout? hyper____

Hyperuricemia

A patient presents with the finding shown when looking to the right. What is the diagnosis?

[Left/Right] cranial nerve [...] palsy/damage

Right cranial nerve VI palsy/damage

A patient presents with the finding shown when looking to the left. Which cranial nerve is dysfunctional?

[Left/Right] cranial nerve [...]

Right cranial nerve IV

Why are the motor fibers of cranial nerve III affected first in vascular injury?

The vasculature supplying cranial nerve III runs along the _____ of the nerve, therefore _____ _____ fibers are affected first

The vasculature supplying cranial nerve III runs along the periphery of the nerve, therefore deeper motor fibers are affected first

What is the most likely etiology of cranial nerve III injury if the gaze is normal, but pupillary light reflex is diminished unilaterally?

Compression of the _____ fibers of cranial nerve III interfere with _____ output

Compression of the outer fibers of cranial nerve III interfere with parasympathetic output

What is the etiology of the cranial nerve III injury if the gaze is fixed in a "down and out" position, but the light reflex is preserved?

_____ disease → _____ to _____ fibers

Vascular disease → Hypoxia to interior fibers

What is the pathophysiology of a persistently dilated pupil?

Interruption of cranial nerve III _____ fibers → Unopposed _____ stimulation

Interruption of cranial nerve III parasympathetic fibers → Unopposed sympathetic stimulation

A patient's right eye is stuck in a "down and out" position due to a cranial nerve injury. What are 3 commonly associated findings you would also expect to note?

_____
Diminished/absent _____ _____ reflex
_____

Ptosis
Diminished/absent pupillary light reflex
Mydriasis

What are the 5 common causes of cranial nerve III damage?
____
____ herniation
____ ____ thrombosis
____ ____ artery aneurysm
____ stroke

Ischemia
Uncal herniation
Cavernous sinus thrombosis
Posterior communicating artery aneurysm
Midbrain stroke

Damage to cranial nerve III due to uncal herniation is associated with what symptom?

_____

coma

Damage to cranial nerve III via a cavernous sinus thrombosis is associated with what other symptoms?

_____

Proptosis

Damage to cranial nerve III via a midbrain stroke is associated with what symptom?

[Ipsilateral/Contralateral] _____

Contralateral hemiplegia

Do not omit _____ aspects of the physical exam, even if the exam is _____ because of the patient's disability.

Do not omit relevant aspects of the physical exam, even if the exam is challenging because of the patient's disability.

When a disabled patient is accompanied by a caregiver, whom should you address?

Address the _____ directly in most situations

Address the patient directly in most situations

Do not assume that nonverbal patients do not _____.

understand

Name three tools you can use to effectively communicate with patients who have difficulty speaking.

Allow extra _____ during the visit
Consider asking them to _____ down or _____ what they have said
_____ information they provide to ensure you understand it correctly

Allow extra time during the visit
Consider asking them to write down or rephrase what they have said
Repeat information they provide to ensure you understand it correctly

Name four tools you can use to communicate with a patient with cognitive impairment.

Ask ____ questions with concrete, specific language
Eliminate ____
Use ____
Do not assume the patient can ____

Ask simple questions with concrete, specific language
Eliminate distractions
Use gestures
Do not assume the patient can read

How should you communicate with patients who are deaf or have a hearing impairment?
Ask them how they _____ to commmunicate
For patients who speak and lipread, reduce noise and face them, but don't change mode of _____
Get attention by waving or light _____. Consider using an _____.

Ask them how they prefer to commmunicate
For patients who speak and lipread, reduce noise and face them, but don't change mode of speech
Get attention by waving or light touch. Consider using an interpreter.

Would you ask about disability if a patient seeks treatment for a condition unrelated to the disability?

No

How would you begin discussing a patient's problem when taking a culturally inclusive history?

Ask the patient to describe, in their _____ way, the problem, why they _____ they have it, and what makes it _____ or _____

Ask the patient to describe, in their own way, the problem, why they think they have it, and what makes it better or worse

How do you prepare a culturally inclusive medical treatment plan?

Ask if the patient has _____ or _____ regarding the treatment plan

Ask if the patient has concerns or suggestions regarding the treatment plan. Aim to include their cultural beliefs and practices in the treatment plan.

How could you address cultural barriers to medical care?

Ask if anything would _____ them from seeking standard medical care
Ask about ways to maintain a good _____-_____ relationship

Ask if anything would prevent them from seeking standard medical care
Ask about ways to maintain a good physician-patient relationship

How do you create the setting to deliver bad news to a patient?

Offering ______ to patients in advance
Removing ______
Ensuring ______
______ down with the patient during the conversation

Offering support to patients in advance
Removing distractions
Ensuring privacy
Sitting down with the patient during the conversation

What does the component "perception" of delivering bad news mean?

Evaluating the patient's ______ and ______

Evaluating the patient's understanding and expectations

What does the component "invitation" of delivering bad news mean?

Obtain ______ to disclose the news
Clarify what level of ______ the patient desires

Obtain permission to disclose the news
Clarify what level of detail the patient desires

How do you share information with a patient according to the "knowledge" component of delivering bad news?

Share the information in [large/small] pieces without medical ______

Share the information in small pieces without medical jargon

How do you appropriately react to a patient's emotions while delivering bad news?

Allow the patient to ____ emotions
Listen and acknowledge the emotions with ____ responses

Allow the patient to express emotions
Listen and acknowledge the emotions with empathetic responses

What should be your strategy if the patient finally feels ready for more information after you have delivered bad news?

Discuss _____ of care and options for treatment
Provide an _____ for the patient's next appointment

Discuss outcomes of care and options for treatment
Provide an agenda for the patient's next appointment

What important lab value can distinguish between hemolytic and nonhemolytic normocytic anemias?

______ index

Reticulocyte index

Hemolytic Anemia: The bone marrow works overtime to replace destroyed red blood cells, resulting in a ______ reticulocyte count (> 2–3%).

Nonhemolytic Anemia: The bone marrow's production is impaired or inadequate, resulting in a ______ or ______ reticulocyte count (≤ 2%)

high

low or normal

Which anemia may first appear as a normocytic anemia, but then progresses to become a microcytic anemia?

Iron deficiency anemia

Name four causes of megaloblastic, macrocytic anemia.
____ deficiency
____ deficiency
____ aciduria
____ anemia

Folate deficiency
B₁₂ deficiency
Orotic aciduria
Fanconi anemia

Name three causes of nonmegaloblastic, macrocytic anemia.

Chronic ____ overuse
____ disease
____-____ anemia

Chronic alcohol overuse
Liver disease
Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a rare, _____ bone marrow failure syndrome where the body fails to produce enough _____ _____ cells

Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome where the body fails to produce enough red blood cells

Autoimmune hemolytic anemia
Microangiopathic hemolytic anemia
Macroangiopathic hemolytic anemia
Infection

These all will result in _____cytic, hemolytic anemia

These all will result in normocytic, hemolytic anemia

Name four causes of nonhemolytic, normocytic anemia.

_____ of chronic disease
_____ anemia
_____ kidney disease
_____ deficiency

Anemia of chronic disease
Aplastic anemia
Chronic kidney disease
Iron deficiency

Name four causes of microcytic anemia.

______
______ of chronic disease
______ deficiency
______ poisoning

Thalassemia
Anemia of chronic disease
Iron deficiency
Lead poisoning

Name two types of macrocytic anemia.

Megaloblastic
Nonmegaloblastic

How are normocytic, normochromic hemolytic anemias further classified?

[...] defects of red blood cells
[...] defects of red blood cells

Intrinsic defects of red blood cells
Extrinsic defects of red blood cells

What are the two types of normocytic anemia?

[...]
[...]

Hemolytic
Nonhemolytic

Identify the mean corpuscular volume range for various anemias.

Microcytic anemia → Mean corpuscular volume < [...] fL
Macrocytic anemia → Mean corpuscular volume > [...] fL
Normocytic anemia → Mean corpuscular volume between [...] to [...] fL

Microcytic anemia → Mean corpuscular volume < 80 fL
Macrocytic anemia → Mean corpuscular volume > 100 fL
Normocytic anemia → Mean corpuscular volume between 80 to 100 fL

What is this thing and where is the only place it is found?

Monocytes

Blood

Describe the identifying features of a monocyte.

Large, _____-shaped nuclei
Extensive "_____ glass" cytoplasm

Large, kidney-shaped nuclei
Extensive "frosted glass" cytoplasm

What is the pathophysiology of botulism?

Botulinum toxin blocks ______ release from the ______ vesicles, producing ______ paralysis

Botulinum toxin blocks ach release from the presynaptic vesicles, producing flaccid paralysis

What is the treatment for botulism?

Human _____ _____

Human botulinum immunoglobulin

Are UMN or LMN lesions associated with weakness?

Both are!

What four exam findings do you expect in a patient with a LMN lesion that are not seen in a patient with an UMN lesion?

______
______ paralysis
______
______ reflexes/tone

Atrophy
Flaccid paralysis
Fasciculations
Decreased reflexes/tone

What four exam findings do you expect in a patient with an UMN lesion that are not seen in a patient with a LMN lesion?

Positive ______ sign
______ paresis
______ knife spasticity
______ reflexes/tone

Positive Babinski sign
Spastic paresis
Clasp knife spasticity
Increased reflexes/tone

Why is the ability to hear high-frequency tones lost first in presbycusis?

The destruction of ______ cells occurs at the ______ of the cochlea

The destruction of hair cells occurs at the base of the cochlea

In old people, what are they more likely to perserve, high or low frequency hearing?

low-frequency

What is the likely mechanism of hearing loss after extremely loud noise exposure?

Rupture of the _____ _____

Rupture of the tympanic membrane

The ability to hear which frequencies are lost first in noise-induced hearing loss?

High freq

What structure is damaged in noise-induced hearing loss?

____ cells in the ____ of ____

Stereociliated cells in the organ of Corti

Which carpal bone can be felt in the anatomic snuff box?

Scaphoid bone

What type of injury to the wrist could lead to acute carpal tunnel syndrome?

A dislocation of the _____ bone may cause median nerve impingement

lunate

What is the most commonly fractured carpal bone and how is it typically injured?

The ______ bone is commonly injured by a fall on an ______ hand

The scaphoid bone is commonly injured by a fall on an outstreched hand

• Purple - scaphoid
• Light blue - lunate
• Light green - triquetrum
• Pink - pisiform
• Orange - trapezium
• Dark green - trapezoid
• Yellow - capitate
• Red - hamate

Why are scaphoid fractures at higher risk for avascular necrosis and nonunion?

The scaphoid bone receives a _____ blood supply from the _____ artery

The scaphoid bone receives a retrograde blood supply from the radial artery

Scaphoid fractures are often radiographically occult on initial x-rays. If clinical suspicion for fracture is high, the patient should undergo follow-up imaging with an ____ or ____ to confirm or exclude scaphoid fracture.

MRI

CT

Why are urinary tract infections 10 times more common in females than in males?

Females have _____ urethras, and this can be more easily colonized by _____ microbiota.

Females have shorter urethras, and this can be more easily colonized by fecal microbiota.

What is the pathophysiology behind pyelonephritis?

Ascension of bacteria to the _____ from the _____

Ascension of bacteria to the kidneys from the bladder

What is the most common route of transmission for microbes that cause urinary tract infections?

Bacteria from urethra [ascends/descends] to the ______

Bacteria from urethra ascends to the bladder

What are the common signs and symptoms of cystitis?

_____ (something to do with urinating)
_____ pain
Urinary _____ and _____
Urinalysis positive for _____ _____ cells

Dysuria
Suprapubic pain
Urinary frequency and urgency
Urinalysis positive for white blood cells

Which diagnostic marker of urinary tract infections indicates evidence of white blood cell activity?
____ ____

Leukocyte esterase

What organism that causes urinary tract infections is associated with a fruity odor and blue-green tint?

____ ____

Pseudomonas aeruginosa

Pseudomonas aeruginosa is commonly aquired duirng ____ stay

medical

What organism that causes urinary tract infection is associated with the formation of struvite stones?

____ ____

Proteus mirabilis

What aspects of Enterococcus infections make them particularly difficult to treat?

_____ _____

Drug resistant

Which organism that causes urinary tract infections is characterized by production of a red pigment?

____ ____

Serratia marcescens

When will a urease test result be positive for a patient with a urinary tract infection?

When the infection is due to a _____-producing organism

When the infection is due to a urease-producing organism

What organism is the second most common cause of urinary tract infections in sexually active females?

_____ _____

Staphylococcus saprophyticus

What species of bacteria that causes urinary tract infections grows with strong, pink lactose fermentation on MacConkey agar?

_____ _____

E coli

What species of bacteria is the leading cause of urinary tract infections?

_____ _____

E coli

Name some of the common predisposing factors for urinary tract infections.

[Male/Female] sex
_____ (physical issue)
_____ (procedure)
_____ surgery
Congenital _____ malformation
_____
_____ (endocrine)

Female sex
Obstruction
Catheterization
Kidney surgery
Congenital genitourinary malformation
Pregnancy
Diabetes

What does a positive urine nitrite test result indicate?

Reduction of nitrates in urine by gram-[positive/negative] bacteria

Reduction of nitrates in urine by gram-negative bacteria

What organism that causes urinary tract infections is associated with a large mucoid capsule and viscous colonies?

_____ _____

Klebsiella pneumoniae

What organism that causes urinary tract infections is associated with "swarming" on agar due to motility?

_____ _____

Proteus mirabilis

What are 4 common signs and symptoms of pyelonephritis?

____

____ pain

____ tenderness

____uria

fever

flank pain

CVA tenderness

Hematuria

What finding on urinalysis can help to distinguish a urinary tract infection from pyelonephritis?

Detection of _____ casts

WBC

A patient with muscular dystrophy uses the upper extremities to stand up. What is the name of this sign?

Gowers sign

What is the genetic mechanism that causes Becker muscular dystrophy?

___-______ deletion in the ______ gene

Non-frameshift deletion in the dystrophin gene

Becker muscular dystrophy leads to a partially functioning ______ gene.

dystrophin

The findings shown in this calf muscle biopsy specimen from a 4-year-old boy suggest what diagnosis?

The image shows ____ replacement of muscle, found in ____ muscular dystrophy

The image shows fibrofatty replacement of muscle, found in Duchenne muscular dystrophy

How is the diagnosis of Duchenne muscular dystrophy confirmed?

____ testing

Genetic testing

Which two enzymes are elevated in patients with Duchenne muscular dystrophy?

_____ _____
_____

Creatine kinase
Aldolase

At what age does Becker muscular dystrophy present?

_____
_____ adulthood

Adolescence
Early adulthood

At what age do patients typically present with Duchenne muscular dystrophy?

Before the age of ___ years

Before the age of 5 years

What is the function of dystrophin protein?

Dystrophin ____ muscle fibers to the [intracelluar/extracellular] matrix

Dystrophin anchors muscle fibers to the extracellular matrix

What unique characteristic of the dystrophin gene makes it particularly susceptible to mutations?

It is the [largest/smallest] protein-coding human gene

It is the largest protein-coding human geneThis allows for a high rate of spontaneous mutations.

In patients with Duchenne muscular dystrophy, weakness first presents in which group of muscles before progressing superiorly?

_____ _____ muscles

Pelvic girdle muscles

A 3-year-old boy has pelvic girdle muscle weakness, pseudohypertrophy of the calves, and a waddling gait. What gene is most likely mutated?

Dystrophin gene

Duchenne muscular dystrophy is when a _____ deletion occurs in the dystrophin gene. This leads to a truncated/deleted dystrophin gene and _____ damage.

Duchenne muscular dystrophy is when a frameshift deletion occurs in the dystrophin gene. This leads to a truncated/deleted dystrophin gene and myofibrillar damage.

What is the pathophysiology of Duchenne muscular dystrophy?

Loss of dystrophin protein → _______

Loss of dystrophin protein → Myonecrosis

What is the term used to describe a transient loss of consciousness caused by a period of decreased cerebral blood flow?

Syncope

Which subtype of reflex syncope presents with the common faint?

____ syncope

Vasovagal syncope

Which subtype of reflex syncope occurs due to triggers such as coughing, sneezing, swallowing, defacation, or micturition?

____ syncope

Situational syncope

Which type of reflex syncope results from an exaggerated response to carotid sinus baroreceptor stimulation?

Carotid sinus _____

Carotid sinus hypersensitivity

Which form of syncope can be caused by drugs, hypovolemia, and autonomic dysfunction?

____ syncope

Orthostatic syncope

Which form of syncope can be caused by arrhythmias or structural heart defects?

____ syncope

Cardiac syncope

For what disease is aspirin used as a first-line treatment in children?

_____ disease

Kawasaki disease

Treatment of children with aspirin is otherwise avoided because of aspirin's association with Reye syndrome.

What is the pathophysiologic mechanism associated with the aspirin toxicity seen in Reye syndrome?

Aspirin metabolites decrease ___-______ by ______ inhibition of ______ enzymes

Aspirin metabolites decrease β-oxidation by reversible inhibition of mitochondrial enzymes

Which 2 viruses, when treated with aspirin in children, are typically associated with the development of Reye syndrome?

____

____

VZV
Influenza

What pathologic findings will be seen on autopsy in a patient who developed encephalopathy and elevated liver enzymes after receiving aspirin while recovering from the flu?

Microvesicular ____ changes in the liver

Microvesicular fatty changes in the liver

A child with a viral infection who accidentally receives aspirin is at risk for development of what syndrome?

Reye syndrome

Retinal detachment involves separation of the ____ layer from the ____ layer and presents with unilateral, sudden loss of vision best described by patients as a “window shade coming down on the eye.”

Treatment of choice is laser ____ or ____.

Retinal detachment involves separation of the retinal layer from the epithelial layer and presents with unilateral, sudden loss of vision best described by patients as a “window shade coming down on the eye.”

Treatment of choice is laser photocoagulation or surgery.

What is the embryologic origin of Schwann cells?

Neural crest

What are the two main functions of Schwann cells?

_____ of axons in the peripheral nervous system
Promotion of axonal _____ after injury

Myelination of axons in the peripheral nervous system
Promotion of axonal regeneration after injury

Schwann cells will be injured in what syndrome?

Guillain-Barré syndrome?

How many axons does each Schwann cell myelinate?

____ peripheral nervous system axon

1 peripheral nervous system axon

What is the cell marker for Schwann cells?

____

S100

What is the mechanism by which bile exerts antimicrobial activity?

_____ disruption

Membrane disruption

What enzyme is responsible for the rate-limiting step of bile acid synthesis?

Cholesterol _____-_____lase

Cholesterol 7α-hydroxylase

Which amino acids are conjugated to bile acids to make them water soluble?

____

____

Glycine
Taurine

How does decreased absorption of enteric bile salts at the distal ileum lead to calcium oxalate kidney stones?

Calcium binds unabsorbed _____ instead of _____ in the gut → _____ _____ is absorbed in the gut → Increased frequency of calcium oxalate kidney stones

Calcium binds unabsorbed fat instead of oxalate in the gut → Free oxalate is absorbed in the gut → Increased frequency of calcium oxalate kidney stones

this is beacuse bile salts are normally absorbing the fat. without the bile salts there, calcium gets distracted

What is the mechanism behind bile acid diarrhea?

Decreased bile salt absorption in the _____ _____ → Decreased _____ absorption → Diarrhea

Decreased bile salt absorption in the distal ileum → Decreased fat absorption → Diarrhea

What nutrients are digested and absorbed with the help of bile?

_____

_____-soluble vitamins

Lipids
Fat-soluble vitamins

Bile is primarily responsible for _____ and _____ excretion.

Bile is primarily responsible for bilirubin and cholesterol excretion.

Which cell is abundantly seen in mixed cellularity Hodgkin lymphoma?

______

Eosinophils

What is the most common type of Hodgkin lymphoma?

____ ____ Hodgkin lymphoma

Nodular sclerosis Hodgkin lymphoma

Name four subtypes of Hodgkin lymphoma.

____ sclerosing
____ depleted
____ rich
____ cellularity

Nodular sclerosing
Lymphocytic depleted
Lymphocytic rich
Mixed cellularity

Which subtype of Hodgkin lymphoma has the best and worst prognosis?

Best prognosis → _____ _____
Worst prognosis → _____ _____

Best prognosis → Lymphocyte rich
Worst prognosis → Lymphocyte depleted

Describe the appearance of a Reed-Sternberg cell under the microscope.

"____-eyes" appearance

"Owl-eyes" appearance

What is the CD profile of the cell type shown?

____

____

CD15⁺
CD30⁺

This is the Reed-Sternberg cell, the owl eyes

Which two subtypes of Hodgkin lymphoma are seen in immunocompromised patients?

_____ _____
_____ _____

Mixed cellularity
Lymphocyte depleted

How do the demographics of Hodgkin and non-Hodgkin lymphomas differ?

Hodgkin lymphoma → ____ onset
Non-Hodgkin lymphoma → ____ and ____

Hodgkin lymphoma → Bimodal onset
Non-Hodgkin lymphoma → Children and adults

What sex is more affected with Hodgkin lymphoma?

men

What is the strongest predictor of prognosis in Hodgkin lymphoma?

_____ of lymphoma

Stage of lymphoma

Hodgkin lymphoma → _____ lymph nodes with _____ spread

Non-Hodgkin lymphoma → _____ lymph nodes with extranodal involvement and _____ spread

Hodgkin lymphoma → Localized lymph nodes with contiguous spread

Non-Hodgkin lymphoma → Multiple lymph nodes with extranodal involvement and noncontiguous spread

What type of cells are involved in non-Hodgkin lymphoma?

Majority involve ____ lymphocytes

Majority involve B lymphocytes

What cells help diagnose Hodgkin lymphoma?

Reed-Sternberg cells

Which lymphoma is associated with Epstein-Barr virus?

Hodgkin lymphoma

Which lymphoma is associated with autoimmune disease and viral infections?

Non-Hodgkin lymphoma

What is the mechanism that causes a patient to experience the skin findings shown in the image when treated with warfarin?

Skin/tissue _____ due to _____ in small vessels

Skin/tissue necrosis due to microthrombi in small vessels

Warfarin has a transient __________ state when it is initiated.

hypercoagubality

What is the mechanism of action of warfarin?

Inhibition of vitamin K epoxide reductase → Inhibition of __-____________ of factors II, VII, IX, and X and proteins C and S

Inhibition of vitamin K epoxide reductase → Inhibition of γ-carboxylation of factors II, VII, IX, and X and proteins C and S

What treatments can reverse warfarin?

____ or ____ for rapid reversal
Vitamin ____ for slow reversal

FFP or PCC for rapid reversal
Vitamin K for slow reversal

To achieve anticoagulation, why is heparin used when warfarin is initiated?

Heparin "_____ " is needed for the initial transient _____ state caused by warfarin

Heparin "bridge" is needed for the initial transient hypercoagulable state caused by warfarin

Polymorphism in what gene affects the metabolism of warfarin?

_____ gene

VKORC1 gene

List three adverse effects of warfarin.

_____ effects
_____
Skin/tissue _____

Teratogenic effects
Bleeding
Skin/tissue necrosis

What is the mechanism that causes a patient to experience an initial hypercoagulable state when treated with warfarin?

Protein C has a [longer/shorter] half-life than factors II and X.

Protein C has a shorter half-life than factors II and X. Thus, protein C is depleted before factors II and X are depleted.

Which hepatic enzyme is responsible for metabolism of warfarin and is implicated in warfarin drug-drug interactions?

Cytochrome P-450

What is the pathophysiologic cause of cranial nerve V compression in trigeminal neuralgia?

Usually caused by an aberrant _____ _____

Usually caused by an aberrant vascular loop

Trigeminal neuralgia: _____, _____-shock-like pain that lasts _____

Trigeminal neuralgia: unilateral, electrical-shock-like pain that lasts seconds

What drug is the first-line treatment for trigeminal neuralgia?

Carbamazepine

Oxcarbazepine may also used.

The trigeminal nerve provides branchial motor innervation to all muscles of mastication through its ____ subdivision. The muscles of mastication include the ____, ____, medial ____, and lateral ____. They are derived from the ____ pharyngeal arch.

V3

masseter, temporalis, medial pterygoid, and lateral pterygoid

1st

Which three muscles of mastication are involved in closing the jaw?

masseter, temporalis, medial pterygoid

Because of the adverse effects of carbamazepine, which two tests should be routinely done to monitor patients being treated with it?

LFT

CBC

Carbamazepine can cause ____, ____, and ____ toxicity.

agranulocytosis, SIADH, and liver toxicity

What is the mechanism of action of carbamazepine?

Blocks ____ channels

Blocks Na+ channels

Which types of seizures are treated with carbamazepine?

Focal seizures

C-G bonds have ___ hydrogen bonds

A-T bonds have ___ hydrogen bonds.

C-G bonds have 3 hydrogen bonds

A-T bonds have only 2 hydrogen bonds.

What is the end product of uracil methylation?

Thymine

What chemical groups are attached to the 5' and 3' ends of a phosphodiester bond?

______ group at the 5' end
______ group at the 3' end

Triphosphate group at the 5' end
Hydroxyl group at the 3' end

_____ is formed after deamination of cytosine

_____ is formed after deamination of 5-methylcytosine

Uracil is formed after deamination of cytosine

Thymine is formed after deamination of 5-methylcytosine

Name the three pyrimidine bases.

Cytosine
Uracil
Thymine

Name the two purine bases.

Adenine
Guanine

Which 3 amino acids are necessary for purine synthesis?

Glutamate, Aspartate, Glycine

Which type of bond links nucleotides?

___'-___' _________ bond

3'-5' phosphodiester bond

What differentiates nucleosides from nucleotides?