Day 1 Flashcards

Infarction in which coronary artery territory may cause nodal dysfunction?

[Left/Right] coronary artery

What artery supplies the sinoatrial and atrioventricular nodes via its branches?

Enlargement of which labeled structure in the image is most likely to cause Ortner syndrome?

To which 3 areas of the body is pain referred in a patient with pericarditis?

___

___

___

The pericardial space is located between which two layers of the pericardium?

_____ _____

_____

What are the three layers of the pericardium, from outermost to innermost?

[...] pericardium

↓

[...] pericardium

↓

[...]

Which artery supplies the following?
Posterior 1/3 of the interventricular septum
Posterior 2/3 of the ventricular walls
Posteromedial papillary muscle

_____ _____ artery

What structure is supplied by the right marginal artery?

____ ____

Which coronary artery gives rise to the posterior descending artery in most people?

[Left/Right] coronary artery

In which phase of the cardiac cycle does coronary blood flow to the left ventricle and intraventricular septum peak?

____ ____

What three areas of the heart are supplied by the left anterior descending artery?

Anterior surface of the [left/right] [atrium/ventricle]
Anterolateral ____ muscle
Anterior 2/3 of the ____ ____

What is the most posterior chamber of the heart?

Which coronary artery gives rise to the posterior descending artery in left dominant circulation?

____ ____ artery

Which chamber of the heart is most commonly injured in trauma?

[Left/Right] [atrium/ventricle]

Which nerve innervates the pericardium?

Which coronary artery is most commonly occluded?

What two symptoms can enlargement of the left atrium cause as a result of compression of related structures?

[...] from compression of the esophagus
[...] from compression of the left recurrent laryngeal nerve

Which chambers of the heart make up the inferior cardiac surface?

[Left/Right] [atrium/ventricle] → 2/3 of the inferior cardiac surface
[Left/Right] [atrium/ventricle] → 1/3 of the inferior cardiac surface

Which blood vessel runs in the left atrioventricular groove and drains into the right atrium?

____ ____

In addition to drug therapy, what is the most important step in the management of a STEMI?

_____ therapy

What are two medications for immediate symptom control in patients with unstable angina?

_____

_____

β-blockers are used in chronic heart failure management except in which situation?

A) Stable systolic heart failure
B) Reduced ejection fraction
C) Acute decompensated heart failure
D) Long-term mortality reduction

What are the five initial treatments that should be administered to patients with unstable angina or NSTEMI?

[...] (to prevent further clot formation)
[...] therapy
[...]-blockers
[...] (to stabilize atherosclerotic plaques)
[...] inhibitors

Could a child have essential fructosuria if neither of the parents do?

[Yes/No]

What are the two most common ECG findings in patients with acute pericarditis?

Diffuse ST-segment [elevation/depression]
PR-segment [elevation/depression]

What is the most common cause of acute pericarditis?

____

What can be caused by autoimmune and connective disorders, infections, cardiac surgery, cardiovascular events, radiation, and renal failure?

____ ____

What physical maneuver by the patient commonly relieves the pain associated with acute pericarditis?

Sitting ____
Leaning ____

What common complication of acute pericarditis is indicated by the yellow arrows?

What is the most common auscultatory finding in patients with acute pericarditis?

Pericardial _____ _____

Name three pharmacologic treatments for acute pericarditis.

____ (Reduces inflammation and lowers recurrence risk)

____ (First-line pain and inflammation treatment)

____ (Used if refractory, autoimmune-related, or NSAIDs contraindicated)

How do you treat pericarditis due to uremia? ____

What condition is shown in the CT scan?

Pain in which 2 parts of the body may be a sign of leaking, dissection, or imminent rupture of an aortic aneurysm?

___

___

What is a congenital condition that increases the risk for development of thoracic aortic aneurysms?

____ ____ disease

An elderly man with a long smoking history has abdominal pain and a pulsatile abdominal mass. What is the most likely diagnosis?

What might cause a patient with a thoracic aortic aneurysm to develop a murmur?

____ ____ dilatation

What pathologic process is typically associated with formation of an abdominal aortic aneurysm?

______ disease

What pathologic process is typically associated with formation of a thoracic aortic aneurysm?

____ ____ degeneration

Syphillis increases the risk of development of what vascular disease?

Obliterative _____ of the _____ _____

What are 4 risk factors for development of an abdominal aortic aneurysm?

_____ sex
[Older/Younger]
_____
_____ _____

Which congenital heart condition increases the risk of development of a thoracic aortic aneurysm?

_____ _____ valve

What acquired condition is an important risk factor for development of a thoracic aortic aneurysm?

____

____ ____

A patient presents with sudden, tearing chest pain.

____ ____

What is the treatment for an aortic dissection extending from the ascending aorta to the aortic arch?

_____

What is the treatment for an aortic dissection confined to the descending aorta?

___-blockers, then ___

What are 3 conditions associated with aortic dissection?

Inherited ______ ______ disorders
______

______ ______ valve

What are 3 complications that may result from an aortic dissection?

Aortic [...]
Organ [...]
[...]

What are 2 cardiac complications from a proximal Stanford type A aortic dissection?

____ ____
____ ____ regurgitation

What is an aortic dissection?

A ______ intimal tear, which forms a false _____ within the aorta

What chest X-ray finding do you expect in a patient with aortic dissection?

Widened _____

Where does the fluid accumulate in cerebral edema?

Brain [...]

What are the three causes of cytotoxic cerebral edema?

Early [...]
[...] (endocrine issue)
[...] (can be seen in labs)

What are the five causes of vasogenic cerebral edema?

____ ischemia

_____: Brain injury damages capillaries and the BBB → plasma fluid leaks into brain tissue.

_____: Make vessels more permeable → fluid escapes into the extracellular space.

_____: Blood irritates and damages surrounding tissue/vessels → BBB disruption and swelling.

_____: Release factors like VEGF and disrupt local vessels → leaky capillaries around the mass.

What vitamin deficiency causes the ocular manifestation shown in the image? What are they?

Vitamin ____

____ spots

Which vitamin is essential for the differentiation of epithelial cells into specialized tissue?

Vitamin [...]

All-trans retinoic acid is a treatment for which malignancy?

____ ____ leukemia

Which vitamin prevents squamous metaplasia?

What requirements must be met before prescribing isotretinoin to a female of childbearing age?

A pregnancy test result must be [positive/negative]
The patient must use two forms of contraception because of isotretinoin's [...] properties

What are the teratogenic effects of vitamin A?

____ palate
____ abnormalities

What are the symptoms of acute vitamin A toxicity?
_____
_____
_____
_____ vision due to increased intracranial pressure

What is the diagnosis for a person who eats a lot of spinach and liver, presenting with hair loss, dry skin, joint pain, hepatomegaly and intracranial hypertension?

Chronic vitamin [...] toxicity

What vitamin A derivative is a component of visual pigments?

What two dietary sources are rich in vitamin A?

____

____ vegetables

What enzyme pathway becomes primary for converting fructose to fructose-6-phosphate in essential fructosuria? _______

Analogs of which hormone are used to treat acromegaly?

What is another name for vitamin A?

Name two topical uses of vitamin A.

____

____

Vitamin A can help with what highly contagious disease caused by a virus?

What are the symptoms of vitamin A deficiency?

____ blindness
Skin that is [...]/[...]
____ eyes
Corneal squamous metaplasia → ____ spots
____ degeneration
____suppression

What biochemical anomaly explains reduced blood pressure in a patient with scurvy?

Decreased [...] synthesis due to vitamin [...] deficiency

NAD⁺ and NADP⁺ are derived from which amino acid?

Which amino acid and vitamin produces histamine?

____
Vitamin ____

What amino acid and cofactor are required to produce porphyrin, the precursor to heme?

____
Vitamin ____

What amino acid can be used to synthesize creatinine, urea, and nitric oxide?

The conversions of phenylalanine to tyrosine and tyrosine to dopa require what cofactor?

Thyroxine is derived from which amino acid? ____

Melanin is derived from which compound? ____

The conversion of dopa to dopamine requires what cofactor?

Vitamin ____

S-adenosylmethionine is needed to convert ____ to ____

What two cofactors are needed to produce NAD⁺ and NADP⁺ from tryptophan?

Vitamin ____
Vitamin ____

Which two disadvantages are associated with low-molecular-weight heparin compared with unfractionated heparin?

A) Oral use and slow onset
B) Renal clearance and poor reversibility
C) Short half-life and high HIT risk
D) CYP metabolism and teratogenicity

What two cofactors are needed to produce melatonin from tryptophan?

____
Vitamin ____

What neurotransmitter is produced from glutamate? Mention the required cofactor.

____
Vitamin ____ is the cofactor

What is the most common pathogen associated with otitis externa? _____

What pathology of the ear is associated with water exposure, occlusion, and trauma of the ear canal?

What are the four clinical features of otitis externa?

[...] (often worsened by pulling the pinna or pressing the tragus)
[...] (drainage from the ear canal due to infection/inflammation)
[...]
[...] loss (usually conductive)

What is a dreaded complication of otitis externa in older patients with diabetes?

[...] otitis externa

Malignant otitis externa is an invasive otitis externa with _____.

What are the clinical findings of malignant otitis externa?

[...] (worse pain than with normal otitis externa)
[...] (foul-smelling ear drainage from ongoing infection)
[...] tissue in ear canal

malignant otitis externa can lead to what type of palsies? ___ ___

What is the likely diagnosis for a patient with known ulcerative colitis presenting with jaundice, pale stools, and an ERCP showing beading of bile ducts?

_____ _____ _____

Which 2 autoantibodies are associated with ulcerative colitis?

Toxic megacolon, fulminant colitis, and perforation are complications that are most commonly associated with which inflammatory bowel disease?

{Crohn disease/Ulcerative colitis} → Transmural inflammation
{Crohn disease/Ulcerative colitis} → Mucosal and submucosal inflammation

What 2 conditions can be treated with sulfasalazine?

Which inflammatory bowel disease is associated with gallstones and calcium oxalate kidney stones?

Which inflammatory bowel disease has creeping fat, skip lesions, cobblestone mucosa, linear ulcers, bowel wall thickening, fissures, and rectal sparing?

For each ATP consumed, Na⁺/K⁺-ATPase transports how many Na⁺ and K⁺ molecules, and in what direction?

[...] Na⁺ molecules [in/out]
[...] K⁺ molecules [in/out]

The ATP binding site of Na⁺/K⁺-ATPase is located on which side of the plasma membrane?

[...] side

What is the mechanism of action of cardiac glycosides?

[...] blockade → Decreased activity of [...] antiporter → Increased [[...]] intracellularly → Increase in cardiac contractility

What covalent change occurs in Na⁺/K⁺-ATPase when K⁺ is transported into the cell?

The pump is [...]

What is the inheritance pattern of alkaptonuria?

What causes joint pain in a patient with alkaptonuria?

Buildup of ____ acid

Which benign enzyme deficiency causes arthralgias, darkened sclerae and connective tissues, and urine that turns black on air exposure?

______ oxidase deficiency

What metabolic pathway is affected in alkaptonuria?

Degradation of ______ to ______

The activity of what enzyme is decreased in Menkes disease?

____ ____

What connective tissue disease is the result of a mutation in the ATP7A gene?

_____ disease

What is the diagnosis for a child who has brittle, "kinky" hair, hypotonia, delays in growth and development, and an increased risk for cerebral aneurysms?

_____ disease

Impaired copper metabolism in Menkes disease ultimately results in a defective production of what protein?

_____

How do serum copper levels differ in Menkes disease when compared with Wilson disease?

Copper levels are [high/low] in Menkes disease
Copper levels are [high/low] in Wilson disease

Defects in the ubiquitin-proteasome system have been linked to which neurologic disease?

____ disease

Which barrel-shaped protein complex degrades damaged or ubiquitin-tagged proteins?

_____

How can an uncorrected left-to-right shunt lead to Eisenmenger syndrome?

Pathologic vasculature changes lead to _____ hypertension and resultant _____ _____ hypertrophy, causing a new-onset right-to-left shunt

What is the primary reason that testosterone levels are normal in those with cryptorchidism?

_____ cell function is unaffected by the _____ testicular temperature seen in cryptorchidism

What is the pathophysiologic mechanism associated with the reduced fertility seen in those with cryptorchidism?

Impaired ______

What are the two most common complications seen in patients with cryptorchidism?

Increased risk of _____
_____ _____ tumors

What are the expected levels of inhibin B, FSH, LH, and testosterone in patients with cryptorchidism?

[...] inhibin B levels
[...] FSH levels
[...] LH levels
[...] testosterone levels if cryptorchidism is unilateral
[...] testosterone levels if cryptorchidism is bilateral

What is the major risk factor for the development of cryptorchidism? _____

What is the primary treatment method for patients with cryptorchidism?

Most cases resolve [...]
If testicles have not descended by 2 years of age, [...] may be performed

Where does lactase function in the gastrointestinal tract?

Intestinal _____ _____

What might be noted on testing of a stool sample obtained from a patient with lactase deficiency?

_____ stool pH

What are the causes of secondary lactase deficiency?

Loss of intestinal brush border caused by _____
_____ disease

What would an intestinal biopsy specimen from a patient with hereditary lactose intolerance show?

_____ mucosa

What are the clinical features of lactase deficiency?
_____
_____
_____
_____ diarrhea

What is the treatment for lactase deficiency?

Dietary avoidance of ____-containing products
Replacement of lactase in ____

Which groups of people tend to be lactase deficient in adulthood because of the absence of a lactase-persistent allele?
[...]
[...]
[...]

Lactase breaks down lactose into which monosaccharides?

What finding is expected on hydrogen breath testing in a patient with lactase deficiency?

[Increased/Decreased] hydrogen levels

why do we see increased hydrogen levels in lactase def? -

Due to increased _____ of undigested lactose by _____ bacteria.

A patient between ages 1 and 4 presents with stereotypical hand-wringing, seizures, intellectual disability, and regression in verbal, cognitive, and motor skills. What is the diagnosis?

[...] syndrome

The mother of a child with Rett syndrome is pregnant with another child and inquires about the inheritance of the disease. How would you respond?

Rett syndrome is a _____ disorder

Why is Rett syndrome almost exclusively seen in females?

Affected males ____ in utero or shortly after birth

Between what ages does Rett syndrome usually manifest?

Between ages [...] and [...]

What is the underlying mutation in Rett syndrome?

____ ____ mutation of ____ on the ____ chromosome

Karotype analysis reveals a balanced translocation between chromosomes 14 and 21. How will this affect the individual's phenotype?

The individual will be _____

Balanced translocations, unlike unbalanced translocations, do not cause abnormal _______. There will be no gain or loss of genetic material.

What feature of chromosomes 13, 14, 15, 21, and 22 predisposes them to Robertsonian translocations?

They are [...] chromosomes

What are acrocentric chromosomes?

Chromosomes with centromeres near their _____

What is a Robertsonian translocation?

Fusion of the [long/short] arms of two ____ chromosomes at the centromeres.

Unbalanced translocations can result in ____, ____, and chromosomal ____

A pig farmer has bloody diarrhea. He later reports dysuria and sore red knees. What is the diagnosis?

____ ____ from ____ ____ infection

What findings help identify Campylobacter jejuni as a cause of infection?

[...] or "[...]" shaped with [polar/nonpolar] flagella
Oxidase-[positive/negative]
Grows at [...]°C

What are two possible sequelae of Campylobacter jejuni infection?

____ ____
____-____ syndrome

What are two common modes of transmission for Campylobacter jejuni?

____-____
Ingestion of unpasteurized ____ or undercooked ____

What is the most common heritable cause of intellectual disability?

____ ____ syndrome

What is the underlying genetic cause of fragile X syndrome?

____ repeats in the ____ gene

What heart defect is most likely present in patients with fragile X syndrome?

____ ____ prolapse

During embryonic development, when does the trinucleotide repeat expansion that leads to fragile X syndrome occur?

______

How does the trinucleotide expansion in fragile X syndrome affect gene expression?

Trinucleotide repeats in the _____ gene causes hypermethylation of _____ residues → Decreased expression

What is the mode of inheritance of fragile X syndrome?

What are the clinical manifestations of fragile X syndrome when there is a full mutation?

[Long/Short] face
[Large/Small] jaw
[Large/Small], [inverted/everted] ears
[Heart defect]
[Hypermobile/Hypomobile] joints
_____
Postpubertal _____

What are the clinical manifestations of fragile X syndrome when there is a premutation?

____
____
____ ovarian insufficiency

What symptom often observed in patients with fragile X syndrome and might be confused with Lesch-Nyhan syndrome?

[...]

Despite their intellectual disability, patients with Williams syndrome are typically advanced in which skill set?

_____ skills

What is the probable diagnosis of a child with “elfin” facies, intellectual disability, notable friendliness with strangers, hypercalcemia, and cardiovascular problems?

[...] syndrome

Which connective tissue gene is deleted in Williams syndrome?

_____ gene

What chromosomal abnormality is the cause of Williams syndrome?

[...] of the [long/short] arm of chromosome [...]

Name two cardiovascular conditions that may be present in patients with Williams syndrome.

____ ____ stenosis
____ ____ stenosis

The enzyme deficient in maple syrup urine disease is dependent on which vitamin to function?

Vitamin ____

What molecule levels increase in the blood in maple syrup urine disease?

____-____, especially those derived from ____

What is the treatment for maple syrup urine disease?

Restrict ____, ____, and ____ in the diet (three amino acids)
Provide ____ supplementation (vitamin)

What is the inheritance pattern of maple syrup urine disease?

Which amino acids cannot be degraded in maple syrup urine disease? (3)

What condition should be suspected when a urine sample obtained from a lethargic child smells like burnt sugar?

What are the key functions of zinc in the human body?

Involved in the activity of ____ enzymes
Important in the formation of ____ ____

Deficiency of which micronutrient can predispose an individual to alcoholic cirrhosis?

____

What symptoms are associated with a zinc deficiency?

Delayed ____ ____
[Hypergonadism/Hypogonadism]
Reduced adult ____ growth
____
____

What is the diagnosis of the condition shown in the image in a malnourished patient with poor wound healing and impaired taste sensation?

_____ deficiency

Why might a patient with zinc deficiency develop recurrent bacterial and fungal infections?

Zinc deficiency can cause _____

Laboratory testing reveals impaired intestinal zinc absorption. Which dermatologic condition is most likely present?

A) Dermatitis herpetiformis
B) Acrodermatitis enteropathica
C) Seborrheic dermatitis
D) Erythema multiforme

What intracellular proteins are responsible for facilitating and maintaining protein folding?

____ proteins

Name the special class of chaperone proteins that prevents protein denaturation at high temperatures in yeast.

____ ____ proteins

What is the mechanism by which atherosclerotic plaques form?

_____ cell dysfunction leads to _____ -mediated plaque formation via _____ cell formation

Fatty streaks and smooth muscle proliferation contribute to _____ plaques.

Rank the following vessels from MOST commonly affected to LEAST commonly affected by atherosclerosis:

• Circle of Willis
• Coronary arteries
• Carotid arteries
• Abdominal aorta
• Popliteal arteries

Atherosclerosis risk increases after menopause because _____ is protective against atherosclerosis

How does a patient's risk of atherosclerosis change with increases in HDL and LDL?

High [...] is protective and decreases atherosclerotic risk
High [...] increases atherosclerotic risk

______ nerve palsy

What causes the musty odor in phenylketonuria?

Disorder of ____ amino acid metabolism

Name two possible deficiencies that can cause phenylketonuria.

Decreased ____ hydroxylase
Decreased ____ cofactor

Why should a patient with phenylketonuria avoid most artificial sweetners?

Phenylalanine is found in ____

Why are newborns screened for phenylketonuria at 2 to 3 days of age and not earlier?

The result is always normal at birth due to the presence of ____ ____

What is the treatment for phenylketonuria?

Decrease dietary ____
Increase dietary ____
Provide ____ supplementation

Which nonessential amino acid becomes essential for patients with phenylketonuria?

An increase in phenylalanine levels due to phenylketonuria leads to the presence of what class of metabolites in urine?

Phenyl _____

What skin condition, apart from decreased pigmentation, can be seen with phenylketonuria? ____

Phenylketonuria exhibits what pattern of inheritance?

What findings would be present in a patient who was born to a mother with maternal phenylketonuria?

[Macrocephaly/Microcephaly]
[...] disability
[...] retardation
Congenital [organ] defects

β-blockers decrease ______ after a myocardial infarction

How could maternal transmission of syphilis to a neonate be prevented?

By treating the mother with ______ early in pregnancy

What fat absorption disorder can lead to steatorrhea, failure to thrive during infancy, retinitis pigmentosa, progressive ataxia, and acanthocytosis?

What three lipoproteins are absent in apolipoprotein B₄₈ and B₁₀₀ deficiency?

A patient with abetalipoproteinemia is treated with large doses of oral vitamin E to prevent which complication?

______ degeneration

What is the inheritance pattern of abetalipoproteinemia?

What is the treatment for apolipoprotein B₄₈ and B₁₀₀ deficiency?

Restricted consumption of [...]-chain fatty acids
Large doses of oral vitamin [...]

A mutation in what gene results in abetalipoproteinemia?

____ gene

This encodes microsomal transfer protein: ____ gene

What is the likely finding in an intestinal biopsy specimen obtained from an infant with abetalipoproteinemia?

______-laden enterocytes

What cellular process allows for a single gene transcript to result in the production of multiple different proteins?

What is the name of the intervening segments of DNA within a gene that does not code for protein, but have a role in regulating gene expression?

What parts of the gene contain the actual genetic information for coding proteins or functional RNA?

Provide examples that exhibit alternative splicing.

Brain → _____ receptors
Muscle → _____ variants
Tumor cells → _____ _____ evasion

What is the result of having a dysfunctional signal recognition particle in the cell?

Accumulation of _____ in the _____

What is the definitive treatment for acromegaly?

Surgical resection of the ______ ______

What are three pharmacologic treatment options for acromegaly?

______

______

______ ______

Which type of collagen is affected in the vascular type of Ehlers-Danlos syndrome?

Type [...] collagen

What is the most common type of Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is transmitted through what inheritance patterns?

______ ______
______ ______

Ehlers-Danlos syndrome is due to a defect in what process?

______ synthesis

What types of aneurysms are commonly associated with Ehlers-Danlos syndrome?

______ aneurysms
______ aneurysms

What type of specific collagen type that is affected in a patient with easy bruising and findings as shown in the image below?

Which type of Ehlers-Danlos syndrome has fragile vessels, muscles, and organs prone to rupture?

____ type

A patient has vascular Ehlers-Danlos syndrome due to defective type III collagen. Which gene is most likely mutated?

A) COL1A1
B) COL2A1
C) COL3A1
D) COL4A5

What are the two major sources of HDL in the body?

_____

_____ _____

What is the function of cholesterol ester transfer protein?

Assists in the transfer of cholesterol ______ to other ______ particles

What is the function of hormone-sensitive lipase in lipid transport?

Degrades ______ in adipocytes
Releases ______

What is the function of hepatic lipase in lipid transport?

Degrades _____ still present in _____ and _____ _____

What enzyme degrades triglycerides present in circulating chylomicrons and VLDL?

_____ _____

What is the function of pancreatic lipase in lipid transport?

Degrades _____ obtained from the diet in the _____ intestine

What enzyme catalyzes the esterification of the majority of plasma cholesterol and converts nascent HDL to mature HDL?

A) Hormone-sensitive lipase
B) Lipoprotein lipase
C) Lecithin-cholesterol acyltransferase
D) HMG-CoA reductase

What is the function of PCSK9 in lipid metabolsim?

Promotes degradation of ____ receptors

If a drug inhibits PCSK9, how will this affect serum LDL levels?

It will [increase/decrease] serum LDL levels

What are the three different cell types present in the endocrine pancreas and what do they release?

α endocrine cells → [...]
β endocrine cells → [...]
δ endocrine cells → [...]

Where are the α, β, and δ endocrine cells located in the Islets of Langerhans?

α endocrine cells → [...]
β endocrine cells → [...]
δ endocrine cells → [...]

Why do steroids cause neutrophilia?

Steroids inhibit white blood cell ____ → Neutrophilia

What provides the stimulus for cortisol secretion?

Hypothalamic _____ stimulates release of pituitary _____

A patient with latent tuberculosis or candidiasis is started on long-term high-dose glucocorticoids. Which screening test should be performed before beginning therapy?

A) RPR
B) Cold agglutinin test
C) Monospot test
D) PPD test

A patient with latent tuberculosis begins high-dose glucocorticoid therapy and later develops reactivation of infection. Which mechanism best explains this risk?

A) Increased IL-2 production
B) Decreased IL-2 production
C) Increased neutrophil chemotaxis
D) Decreased antibody class switching

What would result from mitral stenosis?

Pulmonary capillary wedge pressure would be [greater/less] than left ventricular end-diastolic pressure

What is the normal pressure for the aorta during systole and diastole?

Systole → [...] mmHg
Diastole → [...] mmHg

What is the normal pressure for the pulmonary artery during systole and diastole?

Systole → [...] mmHg
Diastole → [...] mmHg

What is the normal pressure for the left ventricle during systole and diastole?

Systole → [...] mmHg
Diastole → < [...] mmHg

What is the normal pressure for the right ventricle during systole and diastole?

Systole → [...] mmHg
Diastole → < [...] mmHg

What are the normal pressures for the right and left atria?

Right atrium → < [...] mmHg
Left atrium → < [...] mmHg

Which amino acid is most basic?

Which basic amino acid has no charge at body pH?

What finding in this histology image is characteristic of a carcinoid tumor?

The absence of which 2 nerve plexus result in the disease shown in the image below?

_____ plexus
_____ plexus

What percentage of carcinoid tumors metastasize?

A) 10%
B) 20%
C) 33%
D) 75%

What 2 medications provide only symptomatic relief in patients with heart failure?

____ diuretics
____ diuretics

What 2 medications, used in combination, both relieve symptoms of heart failure and lower associated mortality in select patients?

____

____

What is the role of the RAAS in the symptomatic presentation of edema in heart failure?

Activation of RAAS → [Increased/Decreased] circulating volume due to ____ and ____ reabsorption in the kidneys → [Increased/Decreased] preload → Edema

In diastolic dysfunction, what typically happens to ejection fraction (EF) and end-diastolic volume (EDV)?

What is the effect of increased pulmonary venous pressure, causing fluid transudation into the lungs in patients with heart failure?

_____ _____

What common symptom associated with heart failure is caused by increased venous return from redistribution of blood and reabsorption of peripheral edema?

_____ _____ dyspnea

Medications in what 4 drug classes are prescribed to reduce mortality in patients with heart failure and reduced ejection fraction?

_____ inhibitors
_____ _____ receptor antagonists
_____ -blockers
_____ receptor antagonists

What is the most common cause of right-sided heart failure in the absence of left-sided heart failure?

_____ _____ due to COPD

What is the most common cause of right-sided heart failure?

What is the major histologic finding in the lungs of patients with left-sided heart failure?

_____-laden macrophages

What is the major effect of right-sided heart failure on liver function?

____

____

What is the pathophysiologic mechanism leading to orthopnea in patients with left-sided heart failure?

[Increased/Decreased] venous return to the heart in the _____ position → Pulmonary vascular congestion and shortness of breath

What type of heart failure is associated with decreased contractility, reduced ejection fraction, and increased ventricular end-diastolic volume?

(Systolic or Diastolic) heart failure

What are the 4 most common physical exam findings in patients with heart failure?

____ ____ ____
____ edema
____ heart sound
____ (auscultatory finding)

Which three physical exam findings are most suggestive of right-sided heart failure?

A) Peripheral edema, JVD, hepatomegaly
B) Pulmonary edema, crackles, S3
C) Cyanosis, clubbing, wheezing
D) Bradycardia, syncope, pulsus paradoxus

The trachea bifurcates at what level?

A newborn has failure to pass meconium and severe chronic constipation. Which condition should be suspected?

Which hormones stimulate and inhibit the release of GH respectively?

_____ stimulates growth hormone levels
_____ inhibits growth hormone levels

Which cranial nerve innervates the intraocular muscles?

The common carotid bifurcates at what level?

The abdominal aorta bifurcates at what level?

Which three nerve roots innervate the diaphragm and form the phrenic nerve?

Which lymph node cluster is likely to be enlarged in a patient with mastitis or metastasis from breast cancer?

What do D cells in the antrum of the stomach secrete?

Which nerve and artery would you expect to see injured with a fracture at the surgical neck of the humerus?

_____ nerve

_____ _____ artery

Which nerve injury presents with a flattened deltoid, loss of sensation over the deltoid and lateral arm, and failure to abduct the arm from a resting position?

What general medication is used for long-term prevention or treatment of deep vein thrombosis?

oral direct _______

What is the drug of choice for the acute management of deep vein thrombosis?

____ heparin

____ ____ ____ heparin

What circumstance typically increases venous stasis in a patient?

Prolonged ______

What laboratory test is typically used to rule out deep vein thrombosis in a patient at low or moderate risk of developing deep vein thrombosis?

What congenital condition is caused by blockage of the posterior nasal opening and is associated with midface bony abnormalities?

_____ atresia

Which two respiratory conditions are not typically associated with digital clubbing?

A) Asthma and COPD
B) Asthma and bronchiectasis
C) COPD and lung cancer
D) Cystic fibrosis and asthma

What type of rheumatologic disease is commonly associated with pulmonary hypertension?

A) Crystal arthropathy
B) Connective tissue disease
C) Degenerative joint disease
D) Vasovagal syndrome

Nerve?

Muscle?

Diagnosis?

Osteogenesis imperfecta is caused by a defect in which step of collagen synthesis?

A) Hydroxylation of lysine
B) Cleavage of procollagen
C) Triple helix formation
D) Cross-linking by lysyl oxidase

Approximately one-third of collagen is composed of which amino acid?

A) Glycine
B) Lysine
C) Proline
D) Hydroxyproline

In patients with Hirschspring disease, which enzyme is increased in hypertrophied nerve fibers of the lamina propria?

______

What is the pathophysiologic mechanism that ultimately leads to development of pulmonary hypertension in patients with a chronic history of emphysema?

By destruction of lung ______

Which screening test is commonly used to identify primary ciliary dyskinesia, and would be decreased in a positive test?

Nasal ____ ____ measurement

What is the most common genetic cause of heritable pulmonary arterial hypertension, inhibiting vascular smooth muscle proliferation?

A) CFTR mutation
B) FBN1 mutation
C) BMPR2 mutation
D) JAK2 mutation

What parasitic infection is typically associated with the development of pulmonary hypertension?

______

Pulmonary pressure is measured in which unit?

A) mmHg
B) dynes/sec/cm⁵
C) mEq/L
D) cm H₂O

What may digital rectal exam reveal in Hirschsprung disease?

A) Bloody stool
B) Squirt sign with empty rectum
C) Hard stool in rectal vault
D) Perianal fistulas

What is the prognosis for a patient diagnosed with idiopathic or heritable pulmonary arterial hypertension?

_____

How does myoglobin's affinity for oxygen compare to that of hemoglobin?

Myoglobin has {{greater/less}} affinity for oxygen

What type of oxygen-carrying molecule consists of a single polypeptide chain with a single heme moiety?

______

Which form of hemoglobin has the lowest affinity for oxygen?

Highest?

Deoxygenated or oxygenated?

Hemoglobin can act as a buffer for which ion?

____

What are the four polypeptide subunits that form normal adult hemoglobin?

2 ____ subunits
2 ____ subunits

How does emphysema alter lung compliance?

Lung compliance is _____ proportional to alveolar wall stiffness.

What is the definition of lung compliance?

change in lung ______/change in lung ______

How does the presence of surfactant affect the compliance of the lung? Increases or decreases?

What symptoms occur in a newborn with Hirschsprung disease?

Abdominal ______
______ emesis
Failure to pass ______ within 48 hours

What would a rectal suction biopsy show to indicate a diagnosis of Hirschsprung disease?

Absence of _____ cells

What will be found proximal to the diseased segment of bowel in Hirschsprung disease?

_____ portion of bowel creating a "_____ _____"

What is the mechanism that causes Hirschsprung disease?

Failure of ____ ____ cell migration → Absence of ____ cells and ____ nervous plexuses in distal segment of colon

There is an increased risk for Hirschsprung disease in individuals with what genetic syndrome?

____ syndrome

What loss of function mutations are associated with Hirschsprung disease?

Loss of function mutations in _____

What findings may be present on a CT scan of the sinuses in a patient with cystic fibrosis?

_____ of the sinuses

Which medication slows the progression of cystic fibrosis?

_____

What is the benefit of prescribing azithromycin for patients with cystic fibrosis?

______ activity

What is the function of aerosolized dornase alfa, albuterol, inhaled hypertonic saline, and chest physiotherapy in the treatment of cystic fibrosis?

Facilitates ______ clearance

What is the earliest manifestation of cystic fibrosis in a newborn?

______ ______

What is the reason for subfertility in females with cystic fibrosis?

______
Abnormally [thick/thin] cervical mucus

What is the cause of infertility in males with cystic fibrosis?

Absence of ___ ___

What complications occur in the gastrointestinal tract as a result of pancreatic insufficiency and biliary cirrhosis in patients with cystic fibrosis?

Deficiencies of _____-soluble vitamins
_____ with steatorrhea

What diagnosis is suggested if a newborn screening test reveals increased immunoreactive trypsinogen?

Which pathogens most commonly cause recurrent pulmonary infections in cystic fibrosis during childhood versus adulthood?

A) H influenzae in children; S aureus in adults
B) S aureus in children; P aeruginosa in adults
C) P aeruginosa in children; Aspergillus in adults
D) Burkholderia in children; S pneumoniae in adults

A patient with cystic fibrosis undergoes chest X-ray imaging. Which finding is most likely present?
A) Lobar consolidation only
B) Reticulonodular pattern
C) Pleural calcifications
D) Cavitary upper lobe lesions

A patient with cystic fibrosis has a reticulonodular pattern on chest X-ray. Which process most directly explains this finding?
A) Chronic bronchitis and bronchiectasis
B) Pleural fibrosis and calcification
C) Acute pulmonary embolism
D) Alveolar surfactant deficiency

Why do patients with cystic fibrosis develop bronchiectasis over time?
A) Pulmonary venous congestion
B) Autoimmune pleural inflammation
C) Primary alveolar collapse
D) Chronic mucus plugging and infections

Which metabolic disorders may be present in patients with cystic fibrosis?

[Hyperkalemia/Hypokalemia]
Contraction [acidosis/alkalosis]

In which organ are fatty acids and amino acids metabolized to ketone bodies?

_____

What is the mechanism for ketone production in a patient with diabetic ketoacidosis or prolonged starvation?

[...] is depleted for gluconeogenesis → [...] accumulates → Ketone production

How does chronic alcoholic use increase ketone body formation?

Overuse of alcohol results in increased ____ state → Accumulation of ____ → Shunted to ____ → Buildup of ____ → Production of ketones

Which of the three ketone bodies do not appear on a standard urinalysis?

What is the clinical implication of excess GH in children?

It causes ______ with increased ______ bone growth

Red blood cells can only use ____ as an energy source.

Which ketone gives the fruity smell to the breath of a patient with diabetic ketoacidosis?

After absorption of dietary fat and cholesterol in intestinal cells, where are lipids distributed next?

_____

Which two apolipoproteins are transferred from HDL to chylomicrons and VLDL in circulation?

Apolipoprotein CII is critical in the activation of which enzyme?

_____ lipase

A chylomicron remnant binds to a hepatocyte utilizing which apolipoprotein and receptor?

Apolipoprotein ____ on chylomicrons binds to apolipoprotein ____ receptors on hepatocytes

Chylomicron remnants are broken down by hepatocytes into cholesterol and triglycerides. What is the next step in lipid transport?

Cholesterol and triglycerides are released into _____ from hepatocytes as _____

After lipid breakdown via lipoprotein lipase, chylomicrons and VLDL become what respective lipoprotein forms?

Chylomicrons become ____ ____
VLDL becomes ____

When IDL is delivered to hepatocytes via apolipoprotein E and apolipoprotein E receptors, what lipoprotein is then released from hepatocytes?

In the final step of lipid transport, LDL particles are taken up by peripheral cells with the help of which apolipoprotein?

Apolipoprotein _____ on LDL binds to LDL receptors on _____ cells

What 2 lipid-lowering medications are commonly associated with myopathy?

_____

_____

What is the key enzyme in ketogenesis that converts HMG-CoA into acetoacetate?
A) HMG-CoA reductase
B) Thiophorase
C) HMG-CoA lyase
D) Acetyl-CoA carboxylase

Fibrates increase the risk of cholesterol gallstones primarily through inhibition of which enzyme?
A) HMG-CoA reductase
B) Cholesterol 7α-hydroxylase
C) Lipoprotein lipase
D) Hormone-sensitive lipase

What class of lipid-lowering agents has the greatest effect in decreasing triglycerides?

What drug used in the treatment of heart failure is a recombinant form of BNP? _____

When the heart is overworked or stretched, it releases ____ to help reduce blood pressure and fluid.

What stimulates release of BNP?

Increased _____ _____

Which cells release BNP?

Ventricular ____

How does hydralazine affect afterload?

How does nitroglycerin affect preload?

In a patient with chronic hypertension, how does the left ventricle compensate for increased afterload?

Left ventricular wall _____ to decrease wall stress

An ECG tracing is shown in the image. What pathology does the presence of the U wave indicate?

_____ or _____

Which pacemaker would take over if the SA node stopped functioning?

Enlarged P waves on an electrocardiogram may indicate pathology in which part of the heart? _____

What neurotransmitters increase and decrease heart rate?

_____ increase heart rate
_____ and _____ decrease heart rate

Which part of the adrenal gland secretes mineralcorticoids (such as aldosterone)?

zona ____

Which part of the adrenal gland secretes glucocorticoids (such as cortisol)?

zona ____

What is the embryologic origin of parafollicular cells?

____ pharyngeal pouch

What are three ways to diagnose acromegaly?

Lack of suppression of serum _____ after oral glucose tolerance tests
_____ mass on MRI
Increased serum _____

What is the most common cause of death in gigantism and acromegaly?

____ failure

What disease typically presents with an enlarged tongue with deep furrows, coarsening of facial features with age, deep voice, and frontal bossing?

How is glucose regulation affected in acromegaly?

Glucose tolerance is impaired due to _____ _____

What endocrine tumor is associated with niacin deficiency?

What cell line do carcinoid tumors arise from and what do they secrete?

Carcinoid tumors originate from ____ cells and secrete ____

Increased urinary 5-HIAA suggests what endocrine tumor?

What physical exam finding in Cushing syndrome does the image depict?

What physical exam finding is shown in the image? What condition do you find this in?

A CRH stimulation test shows increases in ACTH and cortisol. What diagnosis is suggested?

____ ____

To confirm that a patient has Cushing disease after suppression with a high-dose dexamethasone test, what do you order?

____ of the ____ gland

What would a high-dose dexamethasone suppression test do to ACTH in Cushing disease?

_____ ACTH

When a patient is found to have ectopic ACTH secretion causing Cushing syndrome, what diagnostic test can done to confirm the diagnosis?

_____ of the abdomen, pelvis, and chest

What happens to ACTH levels during a high-dose dexamethasone suppression test in a patient with ectopic ACTH production from small cell lung cancer?

A 24-hour urine test reveals a high free cortisol level in a patient suspected of having Cushing syndrome. What diagnostic test should be ordered next?

Measurement of serum _____

What will administration of CRH do to ACTH and cortisol levels in a patient with ectopic ACTH production?

Name some clinical indications for angiotensin II receptor blockers.

____ failure
____ (in a lot of kidney problems)
[Hypertension/Hypotension]
Chronic kidney disease with intolerance to ____ inhibitors

What are the adverse effects of angiotensin II receptor blockers?

[Hyperkalemia/Hypokalemia]
Decreased ____ function
[Hypertension/Hypotension]
____

How do angiotensin II receptor blockers affect levels of renin, angiotensin I, and angiotensin II?

[Increased/Decreased] renin levels
[Increased/Decreased] angiotensin I levels
[Increased/Decreased] angiotensin II levels

What is the mechanism of action of the -sartan drugs?

Selectively blocks binding of angiotensin II to ___ receptor

What is microscopic colitis?

Colonic ____ → Chronic ____ diarrhea

Which gender is more likely to develop microscopic colitis?

What is the likely diagnosis if colonic histology shows a thickened subepithelial collagen band or intraepithelial lymphocytes and inflammatory infiltrate in the lamina propria?

In microscopic colitis, on endoscopy, the mucosa of the colon appears ____.

Which organelle is resposible for steroid synthesis and detoxification of poisons and drugs?

Which organelle found in the rough endoplasmic reticulum is missing from the smooth endoplasmic reticulum?

_____ _____

Name the enzyme involved in both glycogenolysis and gluconeogenesis that is found in the smooth endoplasmic reticulum.

Where are cytosolic, peroxisomal, and mitochondrial proteins synthesized?

____ ____

What is the histologic term for the rough endoplasmic reticulum in neurons?

____ bodies

Name two cell types that would be rich in the rough endoplasmic reticulum.

_____ cells secrete mucus.
_____ cells secrete antibodies.

Which organelle synthesizes secretory proteins and adds N-linked oligosaccharides to proteins?

What three factors alter absorption of fat-soluble vitamins?

Bile ____
____ secretions
Presence of intact ____

Why is toxicity more common with fat-soluble vitamins than with water-soluble vitamins?

Fat-soluble vitamins ____ in fat

Malabsorption syndromes, often presenting with chronic steatorrhea, can lead to deficiency of which vitamins?

[...]-soluble vitamins

What four dietary supplements should be added to a vegetarian/vegan diet? (3 vitamins and one mineral)

High consumption of egg whites can predispose to which vitamin deficiency?

Consumption of untreated corn is associated with which vitamin deficiency?

What are the three most common adverse effects of ivabradine?

[Hypertension/Hypotension]
[Tachycardia/Bradycardia]
___ phenomena

What are the two main indications for prescribing ivabradine?

Chronic _______ angina with contraindications for β-blockers
Chronic heart failure with _______ ejection fraction

What is ivabradine's mechanism of action?

Ivabradine selectively inhibits "____ " ____ channels → ____ slow depolarization phase

Different mutations in the same locus cause the same disease. What is this called?
A) Locus heterogeneity
B) Allelic heterogeneity
C) Incomplete penetrance
D) Heteroplasmy

Mutations at different genetic loci cause the same phenotype. What is this called?
A) Allelic heterogeneity
B) Locus heterogeneity
C) Incomplete penetrance
D) Heteroplasm

A child inherits both normal and mutated mitochondrial DNA, causing variable mitochondrial disease expression. What is this called?
A) Heteroplasmy
B) Mosaicism
C) Anticipation
D) Pleiotropy

A mutated gene is present in multiple family members, but only some show the disease phenotype. What is this called?
A) Variable expressivity
B) Locus heterogeneity
C) Incomplete penetrance
D) Allelic heterogeneity

What two cell types are rich in the smooth endoplasmic reticulum?

Where are proteins within Golgi bodies, lysosomes, and the endoplasmic reticulum synthesized?

What is the pathophysiology behind the neurologic findings in vitamin E deficiency?

Demyelination of the posterior columns causes decreased ____ and decreased sensation of ____
Demyelination of the spinocerebellar tracts causes ____

How does vitamin E protect neuronal membranes and red blood cells?

Vitamin E acts as an ______, and is protective against ____ ____ damage

In contrast to vitamin B₁₂ deficiency, vitamin E deficiency will present with the following:

No ____ anemia
No ____ neutrophils
No elevated serum ____ acid levels

What is the likely cause of a hemorrhagic stroke in a patient being treated with warfarin who takes a vitamin E supplement?

Excess vitamin E decreases the metabolism of vitamin ____ → Enhanced ____ effects of warfarin → Increased risk of bleeding

What is a possible complication of excessive vitamin E supplementation in infants?

_____

What are the names of the two main forms of vitamin E?

____

____

How may vitamin E deficiency present clinically?

____ (something to do with RBC)
____ anemia
____ weakness
Decreased ____ (neuro thing)
Decreased ____ sensation (neuro thing)
____ (neuro thing)

A patient undergoes a pilocarpine sweat test for suspected cystic fibrosis. Which result would most strongly support the diagnosis?

A) Increased sweat chloride
B) Increased sweat glucose
C) Decreased sweat sodium
D) Increased sweat potassium

Why is sweat chloride elevated in cystic fibrosis?

A) Excess aldosterone activity
B) Defective CFTR chloride channels
C) Increased sodium-potassium ATPase activity
D) Autoimmune destruction of sweat glands

What is the diagnostic test most commonly used for cystic fibrosis?

A) Schilling test
B) Nasal nitric oxide test
C) D-xylose absorption test
D) Pilocarpine-induced sweat test

The CFTR gene encodes which type of protein?

A) Voltage-gated sodium channel
B) ATP-gated chloride channel
C) Ligand-gated calcium channel
D) Sodium-glucose cotransporter

What is the primary function of the CFTR protein in the lungs and gastrointestinal tract?

A) Reabsorbs sodium into epithelial cells
B) Secretes chloride into epithelial secretions
C) Pumps potassium into luninal cells
D) Secretes chloride into luminal secretions

What is the primary function of CFTR channels in sweat glands?

A) Secrete bicarbonate
B) Reabsorb chloride
C) Secrete potassium
D) Reabsorb glucose

What genetic defect causes cystic fibrosis?

____ deletion → Defect in the ____ gene on chromosome ____

What accompanying symptoms can be seen in a patient who has from vision loss due to Leber hereditary optic neuropathy?

Features of ____ dysfunction

In patients with cystic fibrosis, how does a decrease in Cl^- secretion cause thick mucus production in the lungs and gastrointestinal tract?

Low Cl^- secretion → [High/Low] intracellular Cl^- → Compensatory ____ reabsorption via ____ → Increase in ____ reabsorption → Abnormally thick mucus in lungs and gastrointestinal tract

How does the transepithelial potential differ in patients with cystic fibrosis?

It is more [positive/negative] due to high ____ reabsorption

What is the sequelae of a Phe508 deletion in patients with cystic fibrosis?

A ___ protein that is retained in the ___ ___ ___

In patients with cystic fibrosis, what medication functions to reduce symptoms by opening chloride channels leading to improved chloride transport?

What is the mechanism of action of lumacaftor or tezacaftor in patients with cystic fibrosis?

Corrects the ____ of proteins caused by the ____ deletion

A patient with cystic fibrosis has severe malnutrition and steatorrhea. What is the treatment?

_____ enzyme replacement

A patient with cystic fibrosis has recurrent pneumonia. Lung biopsy shows fungal organisms. Which diagnosis is most likely?

A) Cryptococcal pneumonia
B) Histoplasmosis
C) Allergic bronchopulmonary aspergillosis
D) Pneumocystis pneumonia

Which late-stage complication can occur in cystic fibrosis?

A) Endocrine dysfunction
B) Hyperthyroidism
C) Adrenal crisis
D) Pituitary adenoma

A patient presents with recurrent pulmonary infections, pancreatic insufficiency, and fat-soluble vitamin deficiencies. What is the diagnosis?

Which late-stage complication can occur in cystic fibrosis?

A) Acute cholecystitis only
B) Biliary cirrhosis
C) Viral hepatitis
D) Hepatic adenoma

Which late-stage complication can occur in cystic fibrosis?

A) Neurologic disease
B) Renal disease
C) Liver disease
D) Bone marrow failure

A combination of which two medications corrects misfolded proteins and improves their transport to the cell surface in cystic fibrosis?

A combination of either _____ or _____ with _____

A child has steatorrhea, nasal polyps, chronic bronchitis, and nail clubbing. What is the diagnosis?

What is the underlying cause of cri-du-chat syndrome?

____ arm deletion on chromosome ____

Which chromosome carries the mutation for Wilson disease?

Which chromosome carries the mutation for Friedreich ataxia?

Which chromosome is affected in Patau syndrome?

Which chromosome carries the mutation for Williams syndrome?

What is the genetic syndrome associated with high-pitched crying, microcephaly, epicanthal folds, cardiac abnormalities, and intellectual disability?

What cardiac abnormality is commonly found in patients with cri-du-chat syndrome?

Which chromosome is affected in Edwards syndrome?

Which chromosome is affected in Wilms tumor?

Which chromosome carries the BRCA1 mutation and the mutations that result in Li-Fraumeni syndrome and neurofibromatosis type 1?

Which chromosome carries the mutation for von Hippel-Lindau disease?

Which chromosome carries the mutation for Prader-Willi syndrome?

Which chromosome carries the mutation for multiple endocrine neoplasia type 1?

Which chromosome carries the mutation for α-thalassemia and other α-globin gene defects?

Which chromosome carries the mutation for Marfan syndrome?

Which chromosome carries the BRCA2 mutation?

Hemochromatosis is a disorder caused by a mutation in which chromosome?

Which chromosome carries the mutation for Huntington disease?

Which chromosome carries the mutation that predisposes a person to renal cell carcinoma?

Which chromosome mutation is associated with familial adenomatous polyposis?

Which chromosome carries the mutation for Angelman syndrome?

Which chromosome carries the mutation for neurofibromatosis type 2?

Which chromosome carries the defect that is responsible for achondroplasia?

A patient has a chromosomal defect that results in large, bilateral cystic kidneys. Which genes might be affected?

_____ on chromosome 16
_____ on chromosome 4

Which chromosome carries the mutation for agammaglobulinemia?

Which chromosome carries the mutation for β-globin defects?

Which chromosome carries the mutation for retinoblastoma?

Which two chromosome mutations are associated with each type of tuberous sclerosis?

TSC1 is associated with chromosome ____
TSC2 is associated with chromosome ____

An individual presents with severe intellectual disability, laughter at inappropriate times, seizures, and ataxia. What is the diagnosis?

A child is diagnosed with Angelman syndrome due to loss of maternal chromosome 15 gene expression. Which genetic mechanism could cause this disorder?
A) Maternal uniparental disomy
B) Paternal uniparental disomy
C) Paternal deletion of chromosome 15
D) Trisomy 21

A child is diagnosed with Prader-Willi syndrome due to loss of paternal chromosome 15 gene expression. Which genetic mechanism could cause this disorder?
A) Maternal uniparental disomy
B) Maternal deletion of chromosome 15
C) Paternal uniparental disomy
D) Deletion of chromosome 5p

What type of tissues are typically affected in mitochondrial diseases?

Those with increased ____ requirements

Mitochondrial diseases are rare disorders that arise secondary to failure of what process?

____ ____

Name two mitochondrial myopathies.

_____

_____

What would skeletal tissues affected by a mitochondrial myopathy show under electron microscopy?

Mitochondrial _____ _____

Leber hereditary optic neuropathy typically presents in what part of the population?

____, ____, ____ adults

Describe the pathophysiology of Leber hereditary optic neuropathy.

Mutations in complex ____ of the electron transport chain → Neuronal death in ___ and ___ nerve → Subacute permanent bilateral vision loss

What is the main characteristic of high-output heart failure?

[Increased/Decreased] cardiac output

What are the 6 causes of high-output heart failure?

Advanced _____ - liver thing
Severe _____ - RBC thing
_____ - endocrine thing
Severe _____ - health thing
Wet _____ - vitamin thing
_____ disease - bone thing

By what biochemical mechanism does vitamin K promote synthesis of clotting factors II, VII, IX, and X?

Through ___-carboxylation of ___ acid residues

Why might a patient develop vitamin K deficiency after prolonged antibiotic use?

Due to destruction of ____ ____

What is genetic imprinting?

One gene copy is [...] while the other is [...] by methylation → Parent-of-origin effects

An individual presents with hyperphagia, intellectual disability, hypogonadism, hypotonia, and obesity. What is the diagnosis?

What are two consequences of vulnerable child syndrome?

The child may miss ____
The child may have excessive ____ visits

Barrett esophagus: Replacement of nonkeratinized stratified ____ epithelium with nonciliated ____ epithelium with ____ cells

Barrett esophagus leads to increased risk of what cancer?

____ of the esophagus

What are the reproductive manifestations of myotonic dystrophy?

Gonadal ___ in men
Reduced ___ in women

Fragile X syndrome is caused by a trinucleotide repeat expansion of ___.

What does anticipation refer to in genetic disease?

[Increased/Decreased] disease severity in successive generations
[Earlier/Later] age of onset in successive generations

Huntington disease is caused by a trinucleotide repeat expansion of ____

Friedreich ataxia is caused by a trinucleotide repeat expansion of ____.

What is the name of the phenomenon by which a dramatic change in allele frequency occurs by change, and not through natural selection?

What is the name of the phenomenon observed when a population undergoes a sharp reduction in population size, resulting in new allele frequencies?

_____ _____

Breastfed neonates are deficient in vitamin K for what two physiologic reasons?

____ ____ does not contain vitamin K
Neonates have ____ intestines

What changes might be seen in the PT, aPTT, and bleeding time in a neonatal hemorrhage due to vitamin K deficiency?

[...] PT
[...] aPTT
[...] bleeding time

A male neonate born at home has a spontaneous intracranial hemorrhage. What intervention could likely have prevented this problem?

Injection of vitamin ____

A patient with chronic reflux esophagitis undergoes a workup. Findings on endoscopy are shown. What is the diagnosis?

Barrett esophagus is an example of what kind of pathologic aberration to the normal tissue histology? ______

What kind of gifts should physicians politely decline to accept?

Inappropriately _____ or [large/small] gifts
Gifts that may cause _____ or _____ distress to the patient
Any gift that might negatively affect the _____ of care

When deciding not to accept a gift from a patient, what is the recommended way to politely decline?

With ____ while politely saying that the gift must be declined and ____ the patient that this will not affect their care or relationship with the physician in any way

Vitamin ___ is synthesized by intestinal microbiota.

Name two essential polyunsaturated fatty acids.

_____ acid
_____ acid

What two products are created from the metabolism of linoleic acid?

____
____

Linoleic acid is metabolized to _____ acid, which serves as the precursor to leukotrienes and prostaglandins.

Which polyunsaturated fatty acid has been shown to have antihyperlipidemic and cardioprotective effects?

____ acid

Name 2 conditions in which bilateral internuclear ophthalmoplegia is seen.

____ ____

____

internuclear ophthalmoplegia:

[Ipsilateral/Contralateral] adduction failure
Nystagmus in [same/opposite] side

Why is internuclear ophthalmoplegia common in diseases that affect myelin?

Because of the extensive myelination of the ____

If the right eye is unable to adduct while an individual is trying to look left horizontally, where is the lesion?

_____ medial longitudinal fasciculus

From lateral to medial, what are the 4 deep nuclei of the cerebellum?

Fastigial Emboliform Globose Dentate

A patient has head tilting, wide gait, and nystagmus. Where in the cerebellum is the lesion likely to be?

[Medial/Lateral] cerebellum

Ipsilateral proprioceptive information is sent to what structure of the cerebellum?

____ ____ ____

Describe the path of outputting information from the cerebellar cortex to the contralateral motor cortex.

Cerebellar cortex via ____ cells → ____ ____ nuclei→ ____ cerebellar peduncle → Contralateral motor cortex

Voluntary movements are relayed to the cerebullum by the contralateral motor cortex via what structure?

_____ cerebellar peduncle

To what brain structures do the Purkinje cells of the cerebellum project?

____ ____ nuclei

What are the output neurons of the cerebellar cortex?

____ cells

Recurrent falls to the left side indicate a lesion in which location of the cerebellum?

_____ _____ cerebellum

What is the classic CT finding associated with acute pyelonephritis shown in the image?

_____ _____ enlargement

What is a common histologic finding in kidneys affected by chronic pyelonephritis?

____ casts resembling ____ tissue

What finding on urinalysis suggests acute pyelonephritis?

____ ____ cells with or without white blood cell casts

What disease process is indicated by the findings in the renal biopsy specimen shown in the image?

What form of chronic pyelonephritis is associated with a history of Proteus infection?

_____ pyelonephritis

What disease manifests renally as coarse, asymmetric corticomedullary scarring and blunting of calyces?

_____ pyelonephritis

What two conditions commonly lead to chronic pyelonephritis because they predispose individuals to infection?

_____ reflux
Chronic obstruction by _____ stones

What is the likely diagnosis for a patient with fever, chills, nausea, and costovertebral angle tenderness on examination?

______ pyelonephritis

What organism most commonly produces the condition demonstrated by the renal biopsy findings shown?

_____ _____

What are two common mechanisms for development of acute pyelonephritis?

____ urinary tract infection
____ spread of bacteria to the kidney

What are five risk factors for acute pyelonephritis?

Urinary tract _____
Indwelling urinary _____
_____ reflux
Diabetes _____
_____ (women)

______ are the treatment for acute pyelonephritis

What do you do if both a woman and her 13-year-old daughter require a blood transfusion in an emergency, but the father refuses to give consent, saying both are Jehovah’s Witnesses?

Transfuse the ____
Do not transfuse the ____

Should you accept a sponsorship offered by a drug company in exchange for advertising a new drug?

The offer must be [accepted/rejected]

How do you respond when a brain-dead patient's family insists that life support be maintained because the patient is still moving when touched?

Gently inform the family that involuntary movement is caused by ____ ____ and that brain death is equivalent to ____
Inform the ____ ____

What should you do when a physician colleague arrives at work in an impaired state?

You are ethically and legally ____ to ____ impaired colleagues

How should you respond if your patient wants to try alternative or holistic medicine?

Find out ____ the patient wants this
Inform the patient about known ____ and ____

What should you do if you find out that your patient is experiencing physical abuse from an intimate partner?

Ensure that patient is ____ and has an ____ plan
Ask ____ questions
Provide ____ of answers in response
Do not push patient to take a step unless required by ____

Do not limit treatment because of ____ or ____ constraints.

What is the best approach when a 7-year-old boy feels responsible for his older sister's death from cancer?

Use _____ terms in discussing his sister's death
_____ him that it was not his fault
Identify/normalize _____ and _____
Encourage healthy _____ strategies

How should you respond when a 15-year-old pregnant patient wants to keep the baby, but the patient's parents want you to tell her to give the baby up for adoption?

The _____ has the right to make choices regarding the baby

What is an appropriate response if an invasive test is performed on the wrong patient?

Regardless of the result, the physician is obligated to ____ the patient about the mistake

What is an appropriate response if a woman who had a mastectomy says she now feels ugly?

Find out more about ____ the patient feels this way without offering ____ reassuring statements

What is the most appropriate next step when a patient is suicidal and has a plan?

Suggest voluntary ______

A patient’s son asks you not to tell his mother the results of a test if the prognosis is poor because she won't be able to cope with it. How do you respond?

Explore his ______
Explain that if a patient wants information, you must ______ it
If you believe the patient might harm herself or others, you can ______ it

How would you help a patient if the patient has difficulty taking medication?

Provide _____ instructions
_____ the regimen
Use the _____ -_____ method

How can you help a patient if the patient is not adherent?

Discuss any ______ or ______ obstacles to adherence
Schedule regular ______ -______
Avoid ______ and ______ to other physicians

What is an appropriate response if a patient is upset with the treatment provided by another physician?

Advise the patient to talk _____ to that physician

What is an appropriate response if a patient is angry about the amount of time spent in the waiting room?

_____ for any inconvenience and _____ the patient's anger
_____ the patient for being patient, but _____ explaining why the delay occurred

What is an appropriate response if a patient wants an unnecessary procedure?

Discuss the patient's _____ and _____ for requesting the procedure
Avoid _____ procedures
Do not _____ or _____ the patient to another provider

What is an appropriate response if a patient flirts with you and asks you out on a date?

Explain that romantic relationships with patients are _____ appropriate
Employ a _____

What is the appropriate response if a pregnant 17-year-old patient requests an abortion?

Certain states require ____ ____ for minors to undergo abortion

How do you proceed when a family member wants information about a patient's prognosis?

Unless the patient gives _____, you should not give the information to family members

For vax skeptics:
Address any ____
Explain ____ and ____ and why vaccinations are recommended
Do not administer any vaccinations without the parent's ____

What should be done when a dependent patient presents with injuries inconsistent with the caregiver's account?

_____ detailed history and exam findings
_____ patient alone if feasible
Contact _____ for assessment
_____ caregiver of your duty to report suspected abuse

How should you proceed if a patient requests a nonemergent treatment option that is against your personal beliefs?

Provide _____ and _____ information, so the patient can make an informed decision.
Explain that you do not perform the procedure, but offer to _____ them to another physician.

A deficiency in which vitamin results in Wernicke-Korsakoff syndrome?

What three symptoms are present in Korsakoff syndrome?

Irreversible _____ loss
_____
_____ changes

Wernicke-Korsakoff symptoms can be precipitated in a patient with thiamine depletion by administering _____ to a patient before vitamin _____

What are the symptoms of Wernicke encephalopathy?
____
____
____
____

What are six common complications of alcohol use disorder?

_____ (organ issue)
_____ (viral issue)
_____ (organ related issue)
[Central/Peripheral] neuropathy
_____ atrophy
Vitamin _____ deficiency

How does naltrexone help patients with alcohol use disorder?

It reduces _____

How does disulfiram help patients with alcohol use disorder?

It conditions the patient to ______ from alcohol use

Which three medications are commonly prescribed for the management of alcohol use disorder?

_____
_____
_____

Where are the cranial nerve nuclei generally located within the brainstem?

In the ____. This is between ____ and ____ portions of the brainstem.

What is the longitudinal groove that separates the sensory and motor areas of the spinal cord and brainstem?

____ ____. This forms during embryonic development of the ____ and ____ plates.

What general functions are coordinated by the medial brainstem nuclei?

____ functions

What general functions are coordinated by the lateral brainstem nuclei?

____ functions

Which cranial nerve nucleus is located in the spinal cord?

Which cranial nerve nuclei are located in the medulla?

Nucleus of cranial nerve [...]
Nucleus of cranial nerve [...]
Nucleus of cranial nerve [...]

Which cranial nerve nuclei are located in the pons?

Nucleus of cranial nerve [...]
Nucleus of cranial nerve [...]
Nucleus of cranial nerve [...]
Nucleus of cranial nerve [...]

Which cranial nerve nuclei are located in the midbrain?

Nucleus of cranial nerve [...]
Nucleus of cranial nerve [...]

What three general classes of drugs may lead to mydriasis?
______
[Direct/Indirect] ______
[Direct/Indirect] ______

What four general classes of drugs may lead to miosis?
______
______
______
______

fetal alcholol syndrome:

Impaired migration of ____ and ____ cells

What conditions characterize the most severe form of fetal alcohol syndrome?

Heart-lung _____
_____

What limb abnormality is associated with fetal alcohol syndrome?

What condition associated with substance use by a pregnant woman is a leading preventable cause of intellectual disability in the United States?

What craniofacial findings are characteristic of fetal alcohol syndrome?

[Macrocephaly/Microcephaly]
Small palpebral ______
Smooth ______
[Thick/Thin] vermillion border

What are the treatment options for performance-type social anxiety disorder?

____-blockers

____

What disorder is agoraphobia commonly associated with?

What is the fear of leaving the house, using public transportation, and being in big crowds or open spaces known as?

Which treatments can be prescribed for social anxiety disorder?

_____
_____
_____ _____ therapy

How do phobias differ from normal fears?

Fear present in pathologic phobias is _____ and _____ for over _____ months

Do individuals with a phobia recognize their excessive fear?

What is the treatment for a patient with a phobia?

[...] therapy
[...] therapy

What is the definition of performance-type social anxiety disorder?

Anxiety restricted to ____ ____ or ____

What are the treatment options for agoraphobia?

_____ _____ therapy
_____

A boy hears his mother's voice during the year after her death. He has no depressive or psychotic symptoms. Does he have a disorder?

Since his wife died 2 years ago, a man has been severely depressed. He has not been eating or bathing regularly and has not kept up with household tasks. Is this grief normal?

What anomaly in the coagulation cascade causes thrombosis in a patient with factor V Leiden mutation?

Production of a factor V that resists activated protein [...] inhibition

What medication may reduce brain damage in acute thrombotic stroke if given within 3 to 4.5 hours of onset?

What is tPA used for clinically?

_____

What is the role of protein S in anticoagulation?

Protein S is a cofactor for protein _____
Inactivates factors _____ and _____

Name the three endogenous factors that promote anticoagulation.
____ ____
Protein ____
Protein ____

Why is vitamin K administration necessary for neonates soon after birth?

They lack ____ ____ that produce vitamin K

What drug does inhibition of vitamin K epoxide reductase (leading to less Vitamin K coag function)?

What drug does enhancement of antithrombin III activity?

What two medications can be administered to reverse the inhibitory effect of warfarin?

Vitamin _____ (slow reversal)
Fresh frozen _____ or _____ complex concentrate (immediate reversal)