Day 2 Flashcards

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

____ ____

From what germinal layer do astrocytes arise?

_____

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?

______

What marker is associated with astrocytes?

______

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

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

The _____ _____ _____, which _____ movement

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

The _____ _____, which _____ movement

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

The _____, which _____ movement

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

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

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

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

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

Where in the basal ganglia are D₂ receptors chiefly found?

_____

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

Where in the basal ganglia are D₁ receptors chiefly found?

_____

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

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

The cortex [stimulates/inhibits] 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

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

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

What do the putamen and globus pallidus make up?

_____ 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

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

The vomiting center is coordinated by what specific tract?

Nucleus ____ ____ in the ____

The vomiting center receives information from what 4 structures?

____ trigger zone
____ tract
____ system
____

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

____ receptors
____ receptors
____ receptors
____ receptors
____ receptors

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

______ receptors

______ receptors

______ receptors

Antagonists to which 2 receptors can treat motion sickness?

______ receptors
______ receptors

Antagonists to which receptors are used to treat hyperemesis gravidarum?

_____ receptors

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

____ to ____ 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?

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

____ ____

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

____ 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

What are all these signs of?

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

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

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

What type of hemorrhage is seen on this CT scan?

Rupture of which artery is most often implicated?

What are 2 complications of epidural hematoma expansion?

_____ herniation

Cranial Nerve _____ 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?

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

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

foramen _____

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?

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

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

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

What vitamin can aid in reversing an amyl nitrite overdose?

Vitamin ___

What enzyme uses ascorbic acid to convert dopamine to norepinephrine?

_____ __-_____

What are the main dietary sources of vitamin C?

_____

_____

Vitamin C is required for the synthesis of which neurotransmitter?

_____

How does vitamin C promote the absorption of iron?

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

What is the role of vitamin C in collagen synthesis?

____ of ____ and ____ residues

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

_____ hemorrhages
_____ 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

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

_____

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 ____°

Is the drawer test or lachman test more sensitive?

What are the 2 attachment points of the ACL?

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

What are the 2 attachment points of the PCL?

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

Approximately how long is vitamin B₉ stored in the liver?

3 to 4 [months/years]

Approximately how long is vitamin B₁₂ stored in the liver?

3 to 4 [months/years]

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

____
____
____

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

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

What is the alternative name for vitamin B₇?

What is the alternative name for vitamin B₁₂?

What is the alternative name for vitamin C?

What are the two main molecular derivatives of vitamin B₂?

___

___

What is the main molecular derivative of vitamin B₃?

___

What is the main molecular derivative of pantothenic acid?

____

What is the main molecular derivative of vitamin B₆?

____ phosphate

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

[High/Low] sperm count

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

____
____

Kallmann syndrome is a form of hypogonadotropic ______.

What is the pathogenesis of Kallman syndrome?

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

what is this?

____ ____

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

primary ciliary dyskinesia can cause:

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

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

Defect in the ____ ____ → 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

What is the mode of inheritance of primary ciliary dyskinesia?

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

____ (something you do)

____ syndrome

Which two genetic diseases are associated with bronchiectasis?

____ ____

____ syndrome

Kartagener syndrome- impaired ____ mobility of sperm

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

A defect in _____

What is the mode of inheritance of Kartagener syndrome?

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

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

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

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

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

____ ____

Name four complications from coarction of the aorta.

Aortic ____
Heart ____
Infective ____
Cerebral ____

What are the common causes of clavicle fractures?

Direct trauma to the ____
Fall on an outstretched ____

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

The junction between the ____ third segment and ____ third segment

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

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

[...] fracture

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

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

______ medulla

______ glands

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

What are these components of?

Disclosure of information
Patient understanding
Patient capacity
Voluntariness

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 ______

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

Consent should be obtained from the patient's legal ______

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?

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

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

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

When a patient loses _____-_____ capacity and does not have an _____ _____ 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: the infant will laterally flex the _____ body toward the _____.

When do primitive reflexes normally disappear?

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

[...] lobe cortical pathology

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

_____ reflex

Palmar reflex: infant will _____ 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

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

_____ reflex

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

_____ reflex

What does a Babinski sign signify?

[Upper/Lower] motor neuron lesion

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

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

[Increases/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

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

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

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

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

What two nervous system changes occur due to normal aging?

[Increase/Decrease] in brain volume
[Increase/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

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

Decreased synthesis capacity of dermal ______

How does sun exposure contribute to aging?

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

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

How does aging alter the male reproductive system?

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

How does aging alter lung and chest wall compliance?

[Increases/Decreases] lung compliance
[Increases/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

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

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

How does total lung capacity change during normal aging?

How does aging affect ventilatory response to hypoxia/hypercapnia?

[Increased/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

What two classes of drugs are used to treat narcolepsy?

_____ during the day
_____ _____ at night

What neurochemical changes are found in patients with narcolepsy?

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

What is the definition of cataplexy?

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

What are three conditions associated with narcolepsy?

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

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

What nonpharmacologic treatment is available for narcolepsy?

Good sleep ______

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

______

In achondroplasia, why are the head and torso unaffected?

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

In achondroplasia, which gene/pathway is pathologically activated?

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

In achondroplasia, constitutive FGFR3 activation inhibits which process?

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

In achondroplasia, what type of bone ossification is impaired?

Impaired _____ ossification → Failed _____ 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

Name the inheritance pattern of achondroplasia.

____ ____ with full penetrance

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

______ disturbances

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

Chronic ____ with "_____ points" and _____

Name 1 lifestyle and 2 pharmacologic treatment approaches to fibromyalgia.

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

Members of what demographic are most commonly diagnosed with fibromyalgia?

_____ that are 20 to 50 years old

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

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

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

anti_____

____

____

Which MAO inhibitor is used to treat Parkinson disease?

What is the treatment for parkinsonism induced by antipsychotics?

________

________

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

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

What are the two clinical indications for benztropine use?

Acute ____
____ symptoms of Parkinson disease

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

______

______

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

_____ terminals of the _____ _____ neurons

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

______

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

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

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

What are the characteristic symptoms of Parkinson disease?

____

____

____

____ instability

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

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

Parkinson disease is associated with _____ dermatitis

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

______ pathway

How are Ach, Dopamine, Serotonin changed in Parkinsons?

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

______

What is the most common type of ventricular preexcitation syndrome?

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

Development of a _____ circuit → _____ _____

The ECG findings shown are associated with which syndrome?

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

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

What stimulant is first line for narcolepsy?

______

what fracture?

Name 5 drugs that can cause gynecomastia

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

______ pathway

Why might tamoxifen be used in a prostate cancer patient?

To prevent ________ 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

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 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

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

What services do part A of Medicare give?

What services does part B of Medicare provide?

What services does part C of Medicare provide?

What services does part D of Medicare provide?

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

_____ _____ Organization

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

_____

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

______ reflux

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

Recurrent _____ tract infections

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

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

The ____-____ checkpoint

Which phase of the cell cycle has a variable duration?

______ phase

Which phase of the cell cycle is usually the shortest?

______ phase

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

______ phase

What two processes occur during the M phase?

[...]
[...]

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

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

By binding to _____ _____ 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

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

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

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

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

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

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

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

COPI = ______ transport

• ______ → ______

COPII = ______ transport

• ______ → ______

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

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

_____

_____ _____

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

____

____

What is the pathophysiology of inclusion-cell disease?

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

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 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

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

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

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

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

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

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

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

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

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

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

This consists of _____ 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?

____ ____

What cell junctions allow for coordinated movement of cilia?

_____ 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 are aka _____ cilia

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

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

What type of collagen is defective in Alport syndrome?

Type [...] collagen

type 1 collagen: _____

type 2 collagen: _____

type 3 collagen: _____

type 4 collagen: _____

What structures are composed of type II collagen?

____

____ ____ (spine thing)

____ body (eye thing)

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

What is the basic role of collagen in the body?

_____ and _____ to the extracellular matrix

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

____ ____

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

_____. This would be _____.

In which cellular space is tropocollagen formed?

Where does collagen synthesis mainly occur inside the cell?

Individual collagen α chains are also referred to as what?

_______

Which amino acid residue is glycosylated in collagen synthesis?

hydroxy______

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

______

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

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

Name two cytoskeletal elements that are described as microfilaments.

____
____

What are the three major types of cytoskeletal elements?

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

What is the major function of intermediate filaments?

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

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

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

What is the function of fibrillin-1?

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

What enzyme is inhibited by α₁-antitrypsin?

_____

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

What valvular abnormality is most commonly associated with Marfan syndrome?

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

Intellectual abilities in Marfans and Homocystinuria?

What is the mode of inheritance of Marfan syndrome?

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

A mutation in _____ on chromosome _____

delete

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

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

Aortic root _____
Aortic root aneurysm _____

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

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

What is the most common enzyme deficiency leading to homocystinuria?

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

Elastin is rich in which amino acids?

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

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

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

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

_____

How many GTP molecules are bound to each microtubule heterodimer?

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

_____

Name the antifungal agent that targets microtubules.

_____

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

Name the antigout drug that targets microtubules.

____

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

Microtubules are involved in _____ axoplasmic transport in _____.

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

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

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

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

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

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

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.

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

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

Abnormal _____

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

Lack of ____ → Teeth that become worn out easily

How is the most common form of osteogenesis imperfecta inherited?

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

What are the manifestations of osteogenesis imperfecta?

____ fractures
____ sclerae
____ imperfections
____ loss

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

What causes blue sclerae in osteogenesis imperfecta?

_____ connective tissue overlying _____ veins

What are three important clinical manifestations of Zellweger syndrome?

____
____
____

What is the mode of inheritance of Zellweger syndrome?

A mutation in which gene is implicated in Zellweger syndrome?

____ gene

What is synthesized in peroxisomes?

____ ____

____

What are plasmalogens?

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

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

_____

What two metabolic processes occur strictly in peroxisomes?

___-oxidation of branched-chain fatty acids
___-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

adrenoleukodystrophy mode of inheritance?

What are the long-term consequences of adrenoleukodystrophy?

_____ gland crisis
Progressive loss of _____ function
_____

A mutation in which gene is associated with adrenoleukodystrophy?

_____ gene

Refsum disease results from overaccumulation of which fatty 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

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

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

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

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

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

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

What is the mode of inheritance of hereditary spherocytosis?

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

What two lab tests can confirm hereditary spherocytosis?

____ fragility test

____ binding test

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

____, ____, Band ____, Protein ____

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

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

What is the best treatment for hereditary spherocytosis?

_____

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

What is the mode of inheritance of hereditary hemorrhagic telangiectasia?

What is the mode of inheritance of familial hypercholesterolemia?

What is the mode of inheritance of sickle cell disease?

What is the mode of inheritance of familial adenomatous polyposis?

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

______ of polyps

In FAP, you should do prophylactic ______

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

What is the specific genetic mutation of familial adenomatous polyposis?

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

What is the mode of inheritance of glycogen storage diseases?

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

What is the mode of inheritance of hemochromatosis?

What is the mode of inheritance of tuberous sclerosis?

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

What is the mode of inheritance of oculocutaneous albinism?

What is the mode of inheritance of the thalassemias?

What is the mode of inheritance of Friedreich ataxia?

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

______

Which cellular organelles are dysfunctional in Friedreich ataxia?

______

What protein is dysfunctional in Friedreich ataxia?

_____

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

_____ _____

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

______ cardiomyopathy

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

_____ gait

_____ falls

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

_____ _____

What is the mode of inheritance of Wilson disease?

What gene is mutated in patients with Wilson disease?

______ gene on chromosome ______

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

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

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

____, ____, ____, ____

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

What type of anemia is typically associated with Wilson disease?

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

Chelation with ____ or ____

Oral ____

What is the mode of inheritance of neurofibromatosis type 1?

These are _____ lesions characteristic of neurofibromatosis type I.

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

______ dysplasia

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

The NF1 tumor suppressor gene normally produces which protein?

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

What is another name for neurofibromatosis type I?

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

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

Which eye finding is associated with neurofibromatosis type I?

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

Which CNS tumor is associated with neurofibromatosis type I?

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

Which endocrine tumor can occur in neurofibromatosis type I?

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

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

What is the mode of inheritance of neurofibromatosis type 2?

What mutation causes neurofibromatosis type II?

_____ tumor suppressor gene on chromosome _____

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

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

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

Which tumor is classically bilateral in neurofibromatosis type II?

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

Which eye finding is associated with neurofibromatosis type II?

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

Which CNS tumor is associated with neurofibromatosis type II?

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

Which meningeal tumor is associated with neurofibromatosis type II?

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

What is the mode of inheritance of cystic fibrosis?

What is the mode of inheritance of myotonic muscular dystrophy?

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

What is the disease mechanism of myotonic dystrophy?

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

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

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

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

What is the mode of inheritance of Huntington disease?

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

Which 3 neurotransmitters are altered in Huntington disease?

Dopamine is ______

GABA is ______

Ach is ______

At what age do symptoms of Huntington disease usually manifest?

____ to ____ years of age

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

Excessive _____-receptor binding → _____ excitotoxicity

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

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

_____

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

What 5 features does Huntington disease usually present with?

hint: CADAD

What med can I give for Huntington disease chorea?

______

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

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

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

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

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 _____

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 _____ _____ _____

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

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

____ cavus

____ toes

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

____-laden ____

What is the name of this lesion associated with hyperlipidemia?

____ ____

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

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

Tendinous _______

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

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

_____

How do most occurrences of uniparental disomy manifest phenotypically?

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

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

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

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

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

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

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

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.

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

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 → ____ ____

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

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

Misfolded gene product protein aggregates in hepatocellular _____ _____ → _____

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

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

____ skin

____ birth

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

Oral vitamin ____ supplementation

Breast milk is deficient in vitamin D___

What conditions are attributed to vitamin D deficiency?

____ in children
____ in adults
____ tetany

In sarcoidosis, ____ occurs because immune cells inside the ____ 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 [...]

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

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

______
Insufficient ______ exposure
Poor ______
Chronic ______ disease
Advanced ______ 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

1,25-(OH)₂ D₃ is AKA _____

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

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

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

What are the four main sources of vitamin D₃?

____ (natural thing)

____ (something to drink)

____ (some living thing)

____ (some living thing)

What are the three main dietary sources of vitamin D₂?

____ (some living thing)

____ (some living thing)

____ (something to cook with)

Primary hyperparathyroidism can cause ____calcemia and ____phosphatemia

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

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

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

What is achalasia?

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

What is a common presenting symptom of achalasia?

Progressive ____ to both ____ and ____

Name two secondary causes of achalasia.

_____ disease from Trypanosoma cruzi infection
Extraesophageal _____

Achalasia increases the risk of _____ cancer

The image shows a dilated _____ with distal _____.

What are the manometry findings in a patient with achalasia?

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

What neurotransmitters are implicated in achalasia?

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

What are some treatment options for achalasia?

____
____ procedures

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

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

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

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

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

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

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

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

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

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

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

Afferent → Cranial nerve ____
Efferent → Cranial nerve ____

Which nerve roots are needed for the cremaster reflex?

Which nerve roots are needed for the anal wink reflex?

Which nerve roots are needed for the triceps reflex?

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

Which nerve roots are needed for the patellar reflex?

Which nerve roots are needed for the Achilles reflex?

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

What are the expected presenting symptoms of Zenker diverticulum?

_____

_____

_____

_____

_____ mass

What is the pathophysiology of Zenker diverticulum?

Esophageal ______ → ______ of mucosa at the ______ triangle

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

Is Zenker diverticulum a true or false diverticulum?

What is the pathophysiology behind the defect shown?

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

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

From which pharyngeal arch subset is Meckel cartilage derived?

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

Persistance of the _____ duct leads to _____ diverticulum

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

By what age do Meckel diverticula typically present?

Commonly by ____ years of age

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

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

Approximately what size is a typical Meckel diverticulum?

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

What kind of diverticulum is a Meckel diverticulum?

What 4 complications can occur with Meckel diverticulum?

_____
_____
_____
Obstruction near the terminal _____

In which sex is Meckel diverticulum more common?

______ times as likely in ______

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

______ of the ileum

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

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

____ body
____

____ meshwork
____ of ____
____ vessels

What receptors are responsible for mydriasis?

____-receptors

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

How do cholinergic agonists cause miosis?

Cholinergic agonists activate _____ receptors on the _____ _____ 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

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

______ agonists

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

_____ outflow
_____ outflow

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

_____-agonists
_____-blockers
_____ _____ inhibitors

What structure in the anterior eye produces aqueous humor?

[Pigmented/Nonpigmented] epithelium on the ciliary body

Where is the lens of the eye located?

It is suspended from the ____ ____ by ____ 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

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

_____ _____ artery

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

_____ _____ _____ artery with _____ artery

What is the main blood supply to cranial nerve VI?

_____ artery

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

_____ artery
_____ _____ _____ artery

What is the main blood supply to cranial nerve XII?

_____ _____ artery

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

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

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

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

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

[...] syndrome
[...] 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

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

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

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

Death usually occurs by age [...]

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

Females of _____ 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?

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?

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

Impairment in the fusion of the _____ _____

What hematologic malignancies are associated with Down syndrome?

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

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

_____ _____ translocation
_____ _____ error

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

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

What are the five A's of Down syndrome?

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

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

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

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

Chromosome 21 codes for _____ _____ protein

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

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

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

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

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

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

Heparin → _____ onset
Warfarin → _____ onset

Which is teratogenic, heparin or warfarin?

Compare the duration of action between warfarin and heparin.

Heparin → _____
Warfarin → _____

Compare the site of action between warfarin and heparin.

Heparin → ____
Warfarin → ____

What is the difference in administration between heparin and warfarin?

Heparin → _______
Warfarin → _______

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

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

What is the pathophysiology of carpal tunnel syndrome?

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

Where can atrophy be seen in carpal tunnel syndrome?

______ ______

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

Compression of ______ nerve at the wrist
Associated with ______

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

Direct ____ with a ____ fist

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

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

Why is sensation spared in carpal tunnel syndrome?

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

What fracture or dislocation may cause Guyon canal syndrome?

_____ of the _____ bone

What is the finding?

_____, which is associated with _____

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

What type of meal usually precipitates an acute gout attack?

A large meal of _____-rich foods
_____

What is podagra?

A painful, swollen _____ joint of the _____

______ is typically seen in acute gout flares

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

_____ _____ inhibitors

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

_____ (first line)
_____
_____

Are serum uric acid levels always elevated during gout flares?

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

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

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

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

______ of uric acid

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

______ of uric acid

Is gout more common among male patients or female patients?

[Male/Female] patients

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

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

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

____
____
____
____

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

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

What is the strongest risk factor for gout? hyper____

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

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

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

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

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

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

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

What is the pathophysiology of a persistently dilated pupil?

Interruption of cranial nerve III _____ fibers → Unopposed _____ 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
_____

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

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

_____

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

_____

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

[Ipsilateral/Contralateral] _____

Do not omit _____ aspects of the physical exam, even if the exam is _____ 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

Do not assume that nonverbal patients do not _____.

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

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 ____

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 _____.

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

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 _____

How do you prepare a culturally inclusive medical treatment plan?

Ask if the patient has _____ or _____ regarding 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

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

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

Evaluating the patient's ______ and ______

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

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

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

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

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

______ 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%)

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

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

Name three causes of nonmegaloblastic, macrocytic anemia.

Chronic ____ overuse
____ disease
____-____ anemia

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

Autoimmune hemolytic anemia
Microangiopathic hemolytic anemia
Macroangiopathic hemolytic anemia
Infection

These all will result in _____cytic, hemolytic anemia

Name four causes of nonhemolytic, normocytic anemia.

_____ of chronic disease
_____ anemia
_____ kidney disease
_____ deficiency

Name four causes of microcytic anemia.

______
______ of chronic disease
______ deficiency
______ poisoning

Name two types of macrocytic anemia.

How are normocytic, normochromic hemolytic anemias further classified?

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

What are the two types of normocytic anemia?

[...]
[...]