Nbme Cbse Exam | 200 Questions & Answers (Graded 98%) | Latest Version 2023

Normal A-a gradient {Ans: 10-15 mmHg (age/4)+4}Treacher Collins Syndrome {Ans: AD neural crest dysfunction of 1st/2nd pharyngeal arch -craniofacial abnormalities (zygomatic bone and mandibular hypoplasia) -hearing loss -airway compromise}Ornithine transcarbamylase deficiency (OTC) {Ans: Only X-linked Urea cycle disorder Vomiting, tachypnea, and confusion (hyperammonemia) with elevated urinary orotic acid and low BUN Tx: avoid proteins}pulsus paradoxus {Ans: beats have weaker amplitude with respiratory inspiration, stronger with expiration seen in cardiac tamponade, asthma, obstructive sleep apnea, pericarditis, croup}Carcinoid tumors {Ans: Stain w chromogranin A and syanptophysin Inc 5-HIAA See sx of niacin deficiency Diarrhea, flushing, asthma, right heart valvular disease}calcium phosphate crystals {Ans: Found in alkaline urine Prisms, tapered at one end}McCune-Albright syndrome {Ans: characterized by triad of fibrous dysplasia of the bone, endocrine abnormalities (such as early puberty or hyperthyroidism) and cafe-au lait spots. Condition results from an activating mutation in the G protein/CAMP/adenylate cyclase signaling pathway. Coast of Maine border with the cafe-au-lait (irregular border)}Wiskott-Aldrich syndrome {Ans: X linked recessive mutation: unable to reorganize actin cytoskeleton= defective Ag presentation Thrombocytopenia Eczema Recurrent pyogenic infections Inc risk of AI disease and malignancy Low to normal IgG, IgM Inc IgE, IgA}Hereditary spherocytosis {Ans: