Melas syndrome - Study guides, Class notes & Summaries

NBME 28 Questions Answered 100% correct 2023 1 Exam Section 1: Item 1 of 50 National Board of Medical Examiners' Comprehensive Basic Science Self-Assessment 1. A 25-year-old man is brought to the emergency department because of severe abdominal pain, nausea, and vomiting for 1 hour. The pain originates in the left flank and radiates to his groin. His pulse is 100/min, respirations are 18/min, and blood pressure is 150/100 mm Hg. Physical examination shows tenderness of the left flank and ...

ABGC Board Exam (Genetic Counseling) Osteogenesis imperfecta - Answer-Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD, normal sclera, mild/mod bone deformity, shor...

Exam 2-Chapters 7-11 Return to Assessment List Comment:Hi Claudia Exam 2 is complete. Please let me know if you have any questions. thanks Professor Harrell Part 1 of 1 ­ 100.0 Points Qu estion 1 of 40 2.5 Points Which event distinguishes anaphase from anaphase II? • A. Anaphase produces haploid daughter cells and anaphase II results in diploid daughter cells • B. Sister chromatids separated in anaphase II are different while they are identical in anaphase • C. Spindle fibers separate the...

Gerontology HESI Practice Exam 99 Questions with Verified Answers An older resident is newly admitted to an assisted living community. Which action should the registered nurse (RN) implement to provide the resident to maintain safe medication administration? [select all that apply] a. locked medication storage in the client's room b. medication administration record (MAR) c. payment forms for prescribed medications d. delivery of adequate supply of medication e. list of findings indic...

PC-PNCB Exam Topics BACKGROUND: - 3yo boy - abnormal stools x6mo (greasy, floating) - Freq sinus infxn (tx = amox) QUESTION: Which DX test? A) Anti-transglutaminase IgA B) Ciliary biopsy + molecular genetic testing C) Pulm Fxn Testing D) Sweat Chloride Testing CORRECT ANSWER(S): D) Sweat Chloride Test for CF (>60mEq/L) WRONG ANSWERS: A) Dx's celiac disease B) Dx's primary ciliary dyskinesia C) Dx asthma & determines lung fxn in CF BACKGROUN...

CBSE Biochem Lesch-Nyhan Syndrome: what causes it and what are manifestations? - correct answersHGPRT deficiency in purine salvage pathway (this enzyme normally converts hypoxanthine to IMP and guanine to GMP). This deficiency leads to excessive Uric acid production and de novo purine synthesis. It is X linked recessive. Symptoms: hyperuricemia, gout, aggression / self mutilation, mental retardation, dystonia. Treatment for Lesch-Nyhan? - correct answersAllopurinol / febuxostat second ...

CBSE High Yield/Mnemonics/Cases Test Questions With Answers -cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of _________. -This is due to a defect in the ________gene responsible for ____________. -immune deficiency manifests as _______ - CORRECT ANSWER ataxia telangiectasia ATM gene responsible for DNA break repair IgA deficiency Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary i...

A summary of high yield points regarding Mitochondrial Encephalomyopathy Lactic Acidosis & Strokes (MELAS). Highlighted categories include clinical presentation, diagnosis, pathophysiology, risk factors, and treatment. Useful for review and prep. for medical school, pathophysiology courses, step exams (COMLEX & USMLE), or any other health studies. Main source is Robbins & Cotran’s Pathologic Basis of Disease.