Block 10 Metabolic And Hemodynam Disord MCQ's
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- 1.A 1-year-old child with mental retardation is found to have a deficiency of dihydrobiopterin reductase. This enzyme deficiency is most closely related to which of the following disorders?
- A.
Galactosemia
- B.
Phenylketonuria
- C.
Wilson’s disease
- D.
Maple syrup urine disease
- E.
Niemann-Pick disease
- 2.About 75 % of patients with Von Gierke’s Disorder Type 1a have elevated cholesterol and triglycerides. What precursor substrate is overproduced in the liver of these patients to stimulate biosynthesis?
- A.
Ribose
- B.
Glycogen
- C.
Uric acid
- D.
Acetyl-CoA
- E.
Phosphoribosyl-pyrophosphate
- 3.
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A 2 y.o. female patient presents with malaise. A blood test indicates elevated lactic acid (hyperlactatemia). Lymphocyte culture indicates poor utilization of oxygen, but oxygen uptake increases after addition of succinate to the cell culture medium. The child’s mother reports that her 4 y.o. son also suffers from the same symptoms. A pedigree of the family’s “malaise” incidence is shown below. This patient is likely to suffer from which enzyme deficiency?- A.
Pyruvate Dehydrogenase
- B.
Pyruvate Carboxylase
- C.
Cytochrome P450
- D.
Cytochrome Oxidase
- E.
NADH Oxidoreductase
- 4.Clinical symptoms associated with metabolic dysfunctions in mitochondria are associated with?
- A.
Insufficient renal clearance
- B.
Heart murmurs and clammy skin
- C.
Fatigue and metabolic acidosis
- D.
Loss of hair and nausea
- E.
Dry skin and dehydration
- 5.A newborn presents with severe acidosis, vomiting, hypotonia and neurologic deficits. Serum analysis reveals elevated levels of lactate and alanine. These observations suggest a deficiency in which of the following enzymes ?
- A.
Alanine aminotransferase
- B.
Glutamate dehydrogenase
- C.
Lactate dehydrogenase
- D.
Pyruvate dehydrogenase
- E.
Pyruvate carboxylase
- 6.A 3 year-old patient has 2 % of the normal amounts of iduronate sulfatase. What clinical symptoms are associated with this deficiency, typically?
- A.
High ketone levels in urine
- B.
Hepatosplenomegaly and mental retardation
- C.
Pain and jaundice
- D.
Induction of liver cytochrome P450 enzymes
- E.
Ceramide accumulation
- 7.
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Use the following figure to assist you in answering the question: Names of syndromes which result from enzyme deficiencies are provided in order of the steps in the metabolic pathway, above : [1] MPS II, Hunter syndrome [2] MPS I, Hurler, Hurler-Scheie, and Scheie syndromes [3] MPS VI, Maroteaux-Lamy syndrome [4] Sandhoff disease for beta-hexosaminidase A and B [5] MPS VII, Sly syndrome. In Maroteaux-Lamy syndrome, what is the expectation for urinary "limit dextrans"?- A.
There will be no dextrans in the urine
- B.
AB -glucuronide at the non-reducing-end
- C.
A B-hexosamine at the non-reducing-end
- D.
AB -hexosamine sulfate at the non-reducing-end
- E.
A high concentration of urinary glucose
- 8.Zellweger syndrome is caused by a defect in peroxisomal oxidation of very long chain fatty acids (VLCFA) which subsequently results in accumulation of these fatty acids in plasma. It is also associated with low levels of which of the following substances?
- A.
Phosphatidylinositol
- B.
Ketone bodies
- C.
Methylmalonyl CoA
- D.
Plasmalogens
- E.
Acetyl CoA
- 9.I.J., a white, 3a old ~, is brought to you by her mother because of spasticity and increasing difficulty walking. The previous medical history of the patient is unremarkable. Physical exam: wide-based gait, ataxia, hyperreflexia. Lab: elevated sulphatide levels in urine, increased protein in CSF. Decreased peripheral nerve conduction velocity. MRI: brain demyelinization. The most likely diagnosis is
- A.
Metachromatic leucodystrophy
- B.
Tay-Sachs disease
- C.
Gaucher´s disease
- D.
Krabbe disease
- E.
Sandhoff´s disease
- 10.An 18-year-old Caucasian female with a lifelong history of easily bruising, presents to her gynecologist complaining of heavy period. She also admits to occasional nosebleeds as well as bleeding from her gums. She has no family history of bleeding disorders and takes aspirin for migraine headaches. Physical exam is normal. Lab values: Hemoglobin - 9.0 g/dl (12-18 g/dl) Hematocrit - 27% (37-47%) Platelets - 280,000/mm3 (150,000-400,000/mm3) PT - Normal PTT - Prolonged Bleeding time - 8 minutes (2-4 minutes) Which of the following is the most likely diagnosis?
- A.
Hemophilia A
- B.
Hemophilia B
- C.
Von Willebrand disease
- D.
Thrombocytopenia
- E.
Sickle cell disease
- 11.An anemic adult patient has the following red cell indices: Mean Corpuscular Volume: 70mm (MCV normal: 76-96) Mean Corpuscular Hemoglobin: 22g (MCH normal: 27-32) Mean Corpuscular Hemoglobin Concentration: 34% (MCHC normal: 30-35) A blood film shows hypochromic and microcytic RBCs. Quantitative Hb studies show a significant increase in HbA2 levels and a moderate elevation in HbF levels. These values are most consistent with which of the following diagnoses?
- A.
Folic acid deficiency
- B.
Iron-deficiency anemia
- C.
Thalassemia minor
- D.
Pernicious anemia
- E.
Sideroblastic anemia
- 12.A 63-year-old male has not seen a physician for years. He reports reduced exercise tolerance over the past 5 years. On occasion in the past year he has noted chest pain after ascending a flight of stairs. He smokes 2 packs of cigarettes per day. He is found to have a blood pressure of 155/95 mm Hg. His body mass index is 30. Laboratory findings include: total serum cholesterol of 245 mg/dL with an HDL cholesterol that is 22 mg/dL. This patient will most likely have one of the following serious life threatening hemodynamic risk alterations:
- A.
Lymphedema
- B.
Chronic congestive lung disease
- C.
Deep venous thrombosis (DVT)
- D.
Acute coronary artery thrombosis
- E.
Emphysema
- 13.A 68-year-old man had a myocardial infarction which involved 40% of the left ventricular free wall 3 months ago. He has had increasing dyspnea and orthopnea. On examination he has poor capillary filling in hands and feet. He has also clammy cold skin. A chest x-ray shows pulmonary edema and on echocardiography his ejection fraction is 32%. Which one of the following serious health risk hemodynamic complications is most likely to be present in this man at this point in time?
- A.
Chronic congestion of liver (‘Nut meg’)
- B.
Deep arterial mesenteric thrombosis
- C.
Pitting edema ++ (bilateral)
- D.
Disseminated intravascular coagulation (DIC)
- E.
Cardiac tamponade (pericardial bleeding)
- 14.
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A 72-year-old man was hospitalized with a three-month history of a dry hacking cough, dyspnea, and chest pain with the diagnosis of congestive heart failure due to viral myocarditis. Three days after admission the patient had cardio/respiratory arrest and died. At autopsy the liver weighed 1,630 grams and displayed the pattern seen in Image #1. These features in the liver are most likely related to one of the following causal mechanisms?- A.
Sustained hypoxia within the sinusoids of centrilobular structures
- B.
Markedly dilated sinusoids throughout the organ
- C.
Increased peripheral venous pressure with reduced outflow
- D.
Red blood cell accumulation in the sinusoidal spaces around the central vein
- E.
Lowered oxygen tension with resulting liver cell atrophy and necrosis
- 15.
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A 42-year-old woman has a history of repeated urinary tract infections. One of these episodes was recently complicated by acute pyelonephritis. She became septic, and a blood culture grew Escherichia coli. She developed severe hypotension and presented purpuric areas on her skin. A stool for occult blood was positive. Patient was hospitalized with B.P. 80/50 mm Hg, septic, and died next day in spite of treatment. Microscopic study (Image # 2), most likely confirms one of the following diagnoses:- A.
Hemophilia A
- B.
Disseminated intravascular coagulation
- C.
Von Willebrand disease
- D.
Antiphospholipid syndrome
- E.
Thrombocytopenia
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