AMBOSS

Question 1

A type of glycogen storage disease caused by lysosomal acid maltase deficiency. Presents with myopathy, hypertrophic cardiomyopathy, macroglossia, and, in infants, a failure to thrive.

Answer 1

Pompe disease

Question 2

An autosomal recessive disease caused by a deficiency in β-glucocerebrosidase that leads to intracellular accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow. Causes hepatosplenomegaly, neurodegeneration, osteoporosis, and aseptic necrosis of the femur. The most common lysosomal lipid storage disease.

Answer 2

Gaucher’s disease

Question 3

A type of glycogen storage disorder caused by the deficiency of glucose 6-phosphatase (type a disease) or glucose 6-phosphate translocase (type b disease). Patients typically present in the neonatal period with massive hepatomegaly and a protuberant abdomen, puffy cheeks, and a rounded face, and biochemical abnormalities such as severe hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia.

Answer 3

von Gierke disease, Glucose-6-phosphatase deficiency

Question 4

Fever, facial edema, a diffuse morbilliform rash, lymphadenopathy, and hepatomegaly within some weeks after initiating treatment with an anticonvulsant agent are suggestive of ________

Answer 4

DRESS syndrome

Question 5

DRESS syndrome will show increased ___ count

Answer 5

eosinophil

Question 6

6-year-old boy presents with acute cyclical abdominal pain, with his knees drawn to the chest, nonbilious vomiting, and a target sign on ultrasound (transverse bowel rings), which is a constellation of symptoms most consistent with _________. The recurrence of the episode and the presence of anemia are suggestive of a particular pathologic lead point such as

Answer 6

intussusception

meckels diverticulum

Question 7

The _____ test is used to identify if a relationship between two categorical variables is statistically significant, i.e., whether the observations differ significantly from what would be expected by chance.

Answer 7

Chi square

Question 8

The __________ describes the strength and polarity of a linear relationship between two continuous variables (e.g., to assess the relationship between the dose of an anti-epileptic and its peak serum concentration).

Answer 8

Pearson correlation coefficient

Question 9

The ________is a parametric test that is used to identify if there is a statistically significant difference among the means of ≥ 3 continuous variables (e.g., identifying if there is a relationship between blood pressure, serum glucose levels, and BMI).

Answer 9

analysis of variance test (ANOVA)

Question 10

cells in adneocarcinoma

Answer 10

gland forming columnar cells

Question 11

hypolri histology

Answer 11

Neutrophilic infiltration with pit abscesses is seen in H. pylori-positive gastritis

Question 12

________ is one of the most common causes of stress incontinence and is caused by impaired support from the pelvic floor

Answer 12

Urethral hypermobility

Question 13

_________ is a hereditary defect of proximal convoluted tubule and small intestine amino acid transport proteins. These defects prevent proper reabsorption of ornithine, cystine, lysine, and arginine in the small intestine and the kidneys. This leads to the precipitation of hexagonal-shaped cystine stones in urine and a positive urine sodium cyanide nitroprusside test.

Answer 13

Autosomal recessive cystinuria

Question 14

Dysphagia and heartburn refractory to proton pump inhibitors in an individual with a history of atopy are indicative of _________

Answer 14

eosinophilic esophagitis (EoE).

Question 15

A diagnosis of ——–is supported by the findings on endoscopy (trachealization of the esophagus, longitudinal furrows, friable mucosa). Individuals with ——- may also present with food impaction, reflux, and vomiting. An endoscopic esophageal biopsy will typically show an eosinophilic infiltrate.

Answer 15

EoE

Question 16

fever, sore throat, enlarged tonsils with exudates, palatal petechiae, cervical lymphadenopathy, and lack of cough suggest a diagnosis of bacterial tonsillopharyngitis. The most common cause is group A streptococcus (GAS). The virulence factor ——–responsible for inhibition of phagocytosis in fresh blood is also directly involved in the pathogenesis of acute rheumatic fever.

Answer 16

M protein

Question 17

Blocking of __________receptors, therefore, leads to an increase in urinary sodium excretion, decreased peripheral vascular resistance, and lower levels of aldosterone. The combination of these effects lowers blood pressure. To compensate for decreased sodium and water reabsorption, the juxtaglomerular apparatus will release more renin, which will subsequently increase the levels of both angiotensin I and angiotensin II.

Answer 17

angiotensin II

Question 18

________, a hereditary condition that causes myoclonus, ataxia, weakness, and generalized epilepsy. Muscle fibers with red inclusions that disrupt the normal fiber contour result in the characteristic ragged appearance seen on histopathologic examination.

Answer 18

myoclonic epilepsy with ragged red fibers

Question 19

Defective ___________ occurs in patients with myoclonic epilepsy with ragged red fibers (MERRF) due to point mutations in mitochondrial DNA that result in dysfunction of proteins in the electron transport chain.

Answer 19

oxidative phosphorylation

Question 20

The____________artery originates from the thyrocervical trunk, a branch of the subclavian artery. It supplies the cervical portion of the esophagus.
risk of being cut with a mass that is “distal to the UES”

Answer 20

inferior thyroid artery

Question 21

Symptoms (dry cough, followed by diarrhea and abdominal pain), laboratory findings (eosinophilia), and history of recent travel to an endemic region (Indonesia) are concerning for a nematode infection. Stool sample shows a fertilized egg with a knobby appearance, confirm the diagnosis of _________infection.

Answer 21

Ascaris lumbricoides

Question 22

Treatment for Ascaris lumbricoides

Answer 22

albendazole or mebendazole

Question 23

The development of malignancies in Li-Fraumeni syndrome occurs due to loss of

Answer 23

heterozygosity in the p53 tumor suppressor gene

Question 24

A syndrome caused by an autosomal dominant inherited mutation of the tumor suppressor gene TP53. Characterized by multiple malignancies (sarcoma, breast carcinoma, leukemia, adrenocortical carcinoma) that occur at an early age.

Answer 24

Li fraumeni syndrome

Question 25

Cuboidal cells arranged spherically around colloid is a characteristic feature of ___________

Answer 25

thyroid follicles and follicular cells

Question 26

PAX8-PPAR gamma gene rearrangement is involved in the pathogenesis of __________

Answer 26

follicular thyroid adenoma and follicular thyroid cancer

Question 27

Activation mutation in the _______is associated with papillary thyroid cancer, the most common type of thyroid cancer.

Answer 27

BRAF gene

Question 28

Histologically, ______ cancers are characterized by calcified spherules (psammoma bodies), large oval cells with empty-appearing nuclei (“Orphan Annie” eye nuclei), and nuclear grooves.

Answer 28

papillary

Question 29

_________ are cell-to-cell channels that allow a rapid exchange of ions, nutrients, and other molecules. Are composed of two connexons that connect adjacent cells and create an intercellular network that spans osteocytes, osteoclasts, osteoblasts, and other progenitor cells that reside in bone.

Answer 29

Macula communicans, also known as gap junctions,

Question 30

________ are strong structures that exist in the paracellular space between epithelial and endothelial cells. These structures lie just more basal than tight junctions (i.e., closer to the basement membrane). They primarily function to anchor intracellular actin microfilaments to the cellular membrane.

Answer 30

Zonula adherens, also known as adherens junctions

Question 31

_________ are multiprotein structures that connect epithelial basal cells to the basement membrane (basal lamina).

Answer 31

Hemidesmosomes

Question 32

________ are extracellular proteins that seal the paracellular space and prevent passive paracellular movement of molecules. Comprised of claudin and occludin proteins, these structures are prominent in the epithelial layer of the gut.

Answer 32

Zonula occludens (also known as tight junctions)

Question 33

Typical renal biopsy findings of PSGN include

Answer 33

granular deposits of IgG, IgM, and C3 along the glomerular basement membrane

And mesangium on immunofluorescence (“lumpy-bumpy” or “starry sky” appearance), enlarged and hypercellular glomeruli on light microscopy, and subepithelial immune complex deposits (“humps”) on electron microscopy.

Question 34

A syndrome characterized by glomerular damage, leading to hematuria, pyuria, water retention, and subsequent hypertension and edema.

Answer 34

Nephritic syndrome

Question 35

A combination of symptoms seen in various renal diseases that are associated with dysfunction of the renal filtration system. Characterized by massive renal loss of protein (> 3.5 g/day) resulting in edema and hypoalbuminemia, hyperlipidemia, hypercoagulability (antithrombin III deficiency), and an increased risk of infection (loss of immunoglobulins)

Answer 35

Nephrotic syndrome

Question 36

A genetic disorder characterized by glomerulonephritis, often in combination with sensorineural hearing loss and, in some cases, eye abnormalities. Caused by a genetic defect of type IV collagen. Most commonly inherited in an X-linked dominant pattern.

Answer 36

Alport syndrome

Question 37

Achondroplasia is an autosomal dominant disorder with ________penetrance, meaning that all individuals who carry the altered genotype (i.e., a gain-of-function mutation in the fibroblast growth factor receptor 3 gene) will have the disease.

Answer 37

complete

Question 38

short stature, distinctive craniofacial features (midface retrusion, prominent forehead, nose flattening), and disproportionate extremity length indicate ————-

Answer 38

achondroplasia

Question 39

A biopsy showing spindle-shaped cells, leukocyte infiltration, and angiogenesis is consistent with _______, for which HIV is a risk factor. Cutaneous findings of Kaposi sarcoma include darkly pigmented plaques and nodules that may ulcerate.

Answer 39

Kaposi sarcoma

Question 40

A biopsy showing epidermal hyperplasia with lymphocytic infiltrates can be seen in ________, a skin lesion characteristic of secondary syphilis. Macroscopically, these lesions appear as broad-based, wart-like papular erosions.

Answer 40

condylomata lata

Question 41

_____ are granulomatous skin lesions characteristic of tertiary syphilis. A biopsy of a ______would most likely show a central area of necrosis (due to obliterating endarteritis, which causes ischemia of the lesion’s center) surrounded by an inflammatory cellular infiltrate (due to a type 4 hypersensitivity reaction to Treponemal spirochetes).

Answer 41

Gummas

Question 42

_________are classically associated with neurofibromatosis type 1. Patients with NF1 are also at increased risk for optic gliomas, especially as children.

Answer 42

Pheochromocytomas

Question 43

Vestibular schwannomas, especially bilaterally, are classically associated with ______. ______ typically presents with complications of schwannomas (e.g., hearing loss or balance problems) and may cause other CNS tumors (e.g., meningioma). Hyperpigmented iris nodules and cognitive impairment, are not associated with it.

Answer 43

neurofibromatosis type 2

Question 44

An autosomal-dominant neurocutaneous syndrome that is caused by mutation of the TSC1 or TSC2 gene, which encode for hamartin or tuberin protein (both tumor suppressors), respectively. Typically presents with intellectual disability, seizures, and skin manifestations such as adenoma sebaceum, ash-leaf spots, Shagreen patch, and small benign tumors (e.g., brain hamartomas, cardiac rhabdomyomas, and renal angiomyolipomas).

Answer 44

Tuberous sclerosis

Question 45

Patients with severe neutropenia are at increased risk of developing pyogenic and/or enteric bacterial infections such as

Answer 45

Enterococcus faecalis
is an enteric gram-positive organism that is part of the normal GI flora and can cause serious nosocomial urinary tract and biliary tract infections, bacteremia, and infective endocarditis in neutropenic patients.

Question 46

The patient’s hypertension, hypokalemia (leading to fatigue, muscle weakness, headaches, paresthesias, and palpitations), and metabolic alkalosis are likely caused by

Answer 46

primary hyperaldosteronism (Conn syndrome)

Question 47

Bupiron, inhibits the reuptake of norepinephrine and dopamine, is an atypical antidepressant without sexual side effects and therefore a viable alternative for patients with ____, who experience sexual dysfunction due to SSRIs.

Answer 47

MDD

Question 48

gram neg anerobe, reistnat to bile and aminoglyciside

in foot ulcer of diabetic

Answer 48

Bacteroides fragilis
A rod-shaped, gram-negative, beta-lactamase-producing obligately anaerobe. Normally grows in the colon but can be found in infections throughout the body in patients with bowel trauma.

Question 49

Acute ______ infarction, which manifests with ST elevations in the lateral (I, aVL) and lateral anterior precordial leads (V5, V6), is most often caused by occlusion of the left circumflex coronary artery (LCX).

Answer 49

lateral wall

Question 50

The _____supplies the lateral and posterior walls of the left ventricle as well as the anterolateral papillary muscle. In percutaneous coronary intervention, the catheter will need to pass through the aortic sinus and the left coronary artery before entering the ___

Answer 50

left circumflex artery

Question 51

The ————– artery, which arises from the left coronary artery, supplies the anterior surface of the left ventricle, the anterolateral papillary muscle, and the anterior ⅔ of the ventricular septum. Occlusion of this artery causes anterior wall myocardial infarction, leading to ST elevations in leads I, aVL, and anterior wall leads V1–V6

Answer 51

left anterior descending