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Endocrinology Pathology Review Notes

Adenosine deaminase (ADA) deficiency Ans: An immunodeficiency disorder and one type of SCIDs that is caused by an *inborn error in the metabolism of adenine*. The accumulation of adenine destroys both B and T lymphocytes. Increase in dATP is lymphotoxic Lesch-Nyhan syndrome Ans: *Defective purine salvage due to absent HGPRT*, which converts hypoxanthine to IMP and guanine to GMP. Results in *excess uric acid production and de novo purine synthesis*. X-linked recessive Findings: in...

often precedes squamous cell carcinoma Ans: actinic keratosis primary adrenocortical deficiency Ans: Addison's disease polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature, young girls - diagnosis? Ans: Albright's syndrome hereditary nephritis with nerve deafness Ans: Alport's syndrome anti-basement membrane antibodies - diagnosis? Ans: Goodpasture's syndrome anticentromere antibodies - diagnosis? Ans: scleroderma (CREST) anti-double-stra...

polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature, young girls - diagnosis? Ans: Albright's syndrome blue-domed cysts - diagnosis? Ans: fibrocystic change of the breast Wermer's syndrome - also known as? Ans: MEN type I "wire loop" appearance on Light microscopy- diagnosis? Ans: lupus nephropathy what is the defect in Job's syndrome? Ans: neutrophil chemotaxis abnormality - due to failure of IFN-gamma production by helper T cells xa...

Classic ECG finding in atrial flutter. Ans: "Sawtooth" P waves Definition of unstable angina. Ans: Angina is new, is worsening, or occurs at rest Antihypertensive for a diabetic patient with proteinuria. Ans: ACEI Beck's triad for cardiac tamponade. Ans: Hypotension, distant heart sounds, and JVD Drugs that slow AV node transmission. Ans: β-blockers, digoxin, calcium channel blockers Hypercholesterolemia treatment that → flushing and pruritus. Ans: Niacin Treatment for at...

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