QUESTIONS |RECENTLY TESTING REAL EXAM QUESTIONS|VERIFIED SOLUTIONS
(100% CORRECT)
Question 1
Which of the following is the mode of genetic transmission for hemophilia B?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked dominant
D) X-linked recessive
E) Mitochondrial
Correct Answer: D) X-linked recessive
Rationale: Hemophilia B (Factor IX deficiency) and Hemophilia A (Factor VIII deficiency) are both
X-linked recessive disorders. This means the gene mutation is located on the X chromosome.
Because males have only one X chromosome (XY), a single copy of the mutated gene is
sufficient to cause the disease. Females have two X chromosomes (XX), so a female would need
two copies of the mutation to have the disease (which is rare); otherwise, they are carriers.
Transmission typically occurs from female carriers to their male sons.
• Option A: Autosomal dominant disorders (e.g., Von Willebrand disease) affect males and
females equally and require only one copy of the gene.
• Option B: Autosomal recessive disorders (e.g., Sickle Cell, Thalassemia) require two
copies of the gene, one from each parent.
• Option C: X-linked dominant disorders are rare and affect both sexes, though often more
severely in males.
Question 2
A 28-year-old male presents to the clinic with a four-year history of abdominal bloating,
flatulence, diarrhea, and a pruritic rash on his buttocks and knees. He states his symptoms are
worse with the consumption of pasta. Which of the following is most likely to confirm the
diagnosis?
A) 25-hydroxyvitamin D
B) Duodenal biopsy
C) HLA-DQ genotyping
D) Tissue transglutaminase IgA antibody
E) Stool culture and sensitivity
Correct Answer: B) Duodenal biopsy
Rationale: The patient is presenting with classic signs of Celiac disease, including
gastrointestinal malabsorption symptoms and dermatitis herpetiformis (the pruritic rash). While
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serologic testing (Tissue transglutaminase IgA) is an excellent screening tool, the definitive "gold
standard" for confirmation of the diagnosis is an upper endoscopy with a duodenal biopsy. The
biopsy will demonstrate villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis.
• Option D: tTG-IgA is the initial screening test of choice but is not confirmatory without
biopsy in adults.
• Option C: HLA genotyping has a high negative predictive value (if negative, you likely
don't have it) but low specificity (many people have the gene but not the disease).
• Option A: Vitamin D levels may be low due to malabsorption, but this is a sequela, not a
diagnostic test.
Question 3
A 21-year-old woman presents to the clinic with several large, anterior and posterior cervical
lymph nodes. She reports weight loss and night sweats for the past 4 months. Which of the
following is the most effective next step in the diagnosis of Hodgkin lymphoma?
A) CT scan of neck, chest and abdomen
B) Fluorescence immunophenotyping
C) Lymph node excisional biopsy
D) Lymph node fine needle aspiration
E) Complete Blood Count with peripheral smear
Correct Answer: C) Lymph node excisional biopsy
Rationale: The diagnosis of lymphoma requires the evaluation of the lymph node architecture
and the identification of specific cells (e.g., Reed-Sternberg cells in Hodgkin Lymphoma).
An excisional biopsy removes the entire node, preserving the architecture necessary for
accurate grading and classification.
• Option D: Fine needle aspiration (FNA) only removes cells, not the tissue architecture. It
is insufficient for diagnosing lymphoma because Reed-Sternberg cells are often sparse
and can be missed, and the lack of architecture makes sub-typing impossible.
• Option A: CT scans are used for staging the disease after the diagnosis is confirmed, not
for the initial diagnosis.
Question 4
Which of the following best describes the etiology of the jaundice seen in patients with
thyroid storm?
A) Direct constricting effects of thyroid hormone on the biliary duct
B) Hepatic tissue hypoxia due to increased peripheral consumption of oxygen
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C) Hypotension leading to decreased gut motility
D) Impaired reabsorption of thyroid hormone in the enterohepatic circulation
E) Autoimmune destruction of hepatocytes
Correct Answer: B) Hepatic tissue hypoxia due to increased peripheral consumption of oxygen
Rationale: Thyroid storm creates a hypermetabolic state that drastically increases the body's
demand for oxygen and energy. This increased peripheral consumption of oxygen forces the
heart to increase output, often leading to high-output heart failure. Despite this, the metabolic
demand often outstrips the supply, leading to relative ischemia and tissue hypoxia in the liver
(centrilobular necrosis). This hepatic dysfunction results in cholestasis and subsequent jaundice.
• Option A: Thyroid hormone does not physically constrict bile ducts.
• Option E: While thyroid disease can be autoimmune (Graves), the acute jaundice in
storm is metabolic/ischemic, not a direct autoimmune attack on the liver.
Question 5
A 35-year-old woman presents to the ED with slurred speech and right facial drooping. She
reports a similar episode a few months ago. History is significant for a deep vein thrombosis
(DVT) and a second-trimester spontaneous abortion. Vitals: BP 148/88, HR 104. Exam shows
right-sided weakness and hyperreflexia. Which of the following should be included in the
evaluation to determine the cause?
A) Bone marrow biopsy
B) D-dimer
C) Hemoglobin electrophoresis
D) Lupus anticoagulant
E) Osmotic fragility testing
Correct Answer: D) Lupus anticoagulant
Rationale: This patient presents with a history of arterial thrombosis (stroke), venous
thrombosis (DVT), and obstetric complications (second-trimester miscarriage). This triad is
highly suggestive of Antiphospholipid Syndrome (APS). APS is an acquired autoimmune
hypercoagulable state. The diagnostic criteria include clinical events (thrombosis or pregnancy
morbidity) and lab markers: Lupus anticoagulant, Anti-cardiolipin antibodies, or Anti-beta-2
glycoprotein I antibodies.
• Option B: D-dimer is used to rule out acute thrombosis in low-risk patients but does not
diagnose the underlying etiology of recurrent clots.
• Option C: Hemoglobin electrophoresis is for hemoglobinopathies like Sickle Cell.