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33 Cards in this Set
- Front
- Back
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Six compounds that are catabolized to propionic acid...
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Isoleucine, Valine, Threonine, Methionine, Cholesterol and Odd-chain Fatty acids
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Steps required for propionic acid to enter the TCA cycle (2)...
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Enzyme: propionyl CoA Carboxylase (Biotin)
Forms: methylmalonyl CoA Enzyme: Methylmalonyl CoA Isomerase (B12) Forms: Succinyl CoA |
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3 day old patient presents with lethargy, vomiting and tachypnea with an anion gap metabolic acidosis, ketosis and hypoglycemia. Methylmalonic acids is increased in plasma and urine...
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Methylmalonic Acidemia; defect is Methylmalonyl CoA Isomerase
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Patient presents with hyperpigmented spots on torso, rubber epithelial tumors that exhibit "buttonholing." Defect is...
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Neurofibromatosis type I - NF-1 gene on chromosome 17, autosomal dominant
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Tumors arising from Schwann cells? Embryonic precursor?
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Neurofibromas from neural crest cells
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Neurofibromatosis type 1 is associated with which malignancy?
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Optic pathway gliomas
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Catecholamines produced by...
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Medulla (inside )of the adrenal gland
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Mineralocorticoids (Aldosterone) produced by...
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Zona glomerulosa of the adrenal cortex (outermost layer of adrenal)
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Glucocorticoids (Cortisol) produced by...
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Zona Fasiculata of the adrenal cortex (middle layer of the adrenal cortex) - broadest cortical zone
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Adrenal androgens produced by...
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Zona Reticularis of the adrenal cortex (inner layer of the adrenal cortex)
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Diagnosis and histopathologic finding in patient with weight gain, fatigue, and hypertension with elevated plasma cortisol level...
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Cushing's Syndrome; diffuse zona fasiculata hyperplasia, usually secondary to ACTH overproduction
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Causes of Cushing's syndrome...
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Most common - exogenous glucocorticoid administration
Endogenous: ACTH-secreting pituitary tumor (benign), Adrenal tumors (e.g. nodular adrenal hyperplasia), or paraneoplastic syndrome producing ACTH (e.g. small cell lung CA) |
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Major side effect of bupropion...
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Seizures; may be used to replace SSRIs with unacceptable Sexual dysfunction
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Newborn presents with facial defects, low-set ears, prominent occiput, microcephaly, overlapping fingers...
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Edwards Syndrome, trisomy 18 (90% are full trisomy); also see neural tube defects, MR, rocker-bottom feet, VSD, PDA
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Prenatal US reveals intrauterine growth restriction with polyhydramnios and abnormal hand arrangement...
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Edwards Syndrome, trisomy 18
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Patient with a history of vomiting, weight loss and hyperpigmentation for two months presents with acute hypotension, tachycardia and hypoglycemia. Diagnosis and immediate treatment...
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Adrenal Crisis following long-term adrenal insufficiency; treat immediately with glucocorticoids
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Most sensitive test for diagnosis of hypothyroidism...
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TSH - responds drastically to T3 and T4 changes, so it is outside of normal earlier
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When is TSH not useful for diagnosis of hypothyroidism?
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Central hypothyroidism - caused by TSH deficiency; rare
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Three month old presents with a "floppy" baby, poor feeding, jaundice, umbilical hernia...
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Congenital Hypothyroidism; also shows macroglossia, increased risk of ASD or VSD; profound irreversible MR if not corrected
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Mechanism of MR in congenital hypothyroidism...
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Thyroid hormone is required for myelination in CNS
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Meningococcal pilus mediates...
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Epithelial adhesion and colonization
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Defect and characteristics of malignant PKU...
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Dihydrobiopterin reductase deficiency; tyrosine is an essential AA; neurologic abnormalities; dopamine is not synthesized, leading to increased prolactin level
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Phenylketonuria defect...
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Phenylalanine hydroxylase deficiency; tyrosine is an essential AA - administration allows DOPA to be synthesized
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Type of defect in HNPCC...
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Mutation of DNA mismatch repair gene (vs. sporadic cancer which involves mutations or proto- or anti-oncogenes)
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Types of colonic adenomas? Which is most likely to undergo malignant transformation?
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Tubular (dysplastic mucosal cells), villous (dysplastic epithelium) and Tubulovillous (mixed); villous adenomas are most likely to proceed to malignant tumors
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Child presents with hemolytic anemia, thrombocytopenia and acute renal failure. Diagnosis and pathophysiology...
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Hemolytic-Uremic Syndrome. Toxins (e.g. from E. coli) cause localized endothelial damage resulting in isolated platelet activation; microthrombi cause RBC damage. A form of Microangiopathic Hemolytic Anemia
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Lung cancer that cannot be treated with surgery...
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Small cell lung CA
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Six y.o. child presents with gait disturbance and loss of position sense and joint sensation...
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Friedrich's Ataxia
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Pathophysiology of Friedrich's ataxia...
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Cerebellar dysfunction and dorsal column destruction; associated with hypertrophic cardiomyopathy, skeletal dysfunction, diabetes mellitus
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Non-tender lymphadenopathy, fatigue, weight loss. Lymph node biopsy shows bilobed cell with ample cytoplasm and eosinophilic-like nucleoli...
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Hodgkin's disease; Cell is a Reed-Sternberg Cell
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Culture medium for C. Diphtheria...
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Cysteine-tellurite agar (dark black, slightly iridescent colonies) or Loffler's Medium (cytoplasmic metachromic granules)
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Wedge-shaped necrosis over the cerebral convexity lateral to the falx cerebri following MI...
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Watershed necrosis from global cerebral ischemia
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First structures damaged by global cerebral ischemia...
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Pyramidal cells of the hippocampus, cerebellar purkinje fibers are first; next is watershed areas of the cerebrum - areas most distal to cerebral arteries (i.e. overlap between anterior and medial cerebral arteries)
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