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?