Lesch nyhan syndrome Study guides, Class notes & Summaries

PATHOLOGY HIGH YIELD NBME ELABORATED QUESTIONS AND REVIEWED ANSWERS 2023/2024 Anticentromere antibodies - CORRECT ANSWER-Scleroderma (CREST) Antidesmoglein (epithelial) antibodies - CORRECT ANSWER-Pemphigus vulgaris (blistering) Anti-glomerular basement membrane antibodies - CORRECT ANSWER-Goodpasture's syndrome (glomerulonehpritis and hemoptysis) Antihistone antibodies - CORRECT ANSWER-Drug-induced SLE (hydralazine, isoniazid, phenytoin, procainamide) Anti-IgG antibodies - CORREC...

USMLE Step 1 - uWorld High Yield Notes Exam 2023 What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? - Answer-Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? - Answer-Inability to form the membrane attack (MAC) complex this is a common complement deficiency What is the defect in Chronic Granulom...

USMLE STEP 1- First AidDiseases/Disorders/Deficiencies/Syndromes Exam 2023 (A+) 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 ...

OT 667 Pediatric Test 2 (Psychology) Questions And Answers T/F Children with developmental disabilities may face psychiatric illnesses specific to their disorder - ANS-true T/F The presence of developmental disability can alter symptomatic presentation of psychiatric disorders, making accurate diagnosis more difficult - ANS-true When "dual diagnosis" is not recognized, children can- - ANS-fail in educational and social settings. be unmanageable at home, and show aggression and self-inj...

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

Lesch-Nyhan Syndrome: what causes it and what are manifestations? Correct Answer HGPRT 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 Answer Allopurinol / febuxostat second line. Both of these drug...

USMLE Step 1 - uWorld High Yield Notes What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? - Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? - Inability to form the membrane attack (MAC) complex this is a common complement deficiency What is the defect in Chronic Granulomatous disease? What...

USMLE Step 1 - uWorld High Yield Notes What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? - Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? - Inability to form the membrane attack (MAC) complex this is a common complement deficiency What is the defect in Chronic Granulomatous disease? Wha...

BIO 315 Exam 1 Questions and Answers 100% Pass Humans have 23 pairs of chromosomes. Chromosomes 1-22 are best referred to as ______. a. Centromeres b. Autosomes c. Karyotype d. Nuclei e. Sex chromosomes - Correct Answer ️️ -B How many DNA molecules would be found in a single chromosome? a. 4 b. 10 c. More than 10 d. 1 e. 2 - Correct Answer ️️ -D An alternate form of a gene is called a(n) ________. a. Allele b. Exome c. Genome d. Chromosomes e. mutation - Correct Answer...

Humans have 23 pairs of chromosomes. Chromosomes 1-22 are best referred to as ______. a. Centromeres b. Autosomes c. Karyotype d. Nuclei e. Sex chromosomes - Answer-B How many DNA molecules would be found in a single chromosome? a. 4 b. 10 c. More than 10 d. 1 e. 2 - Answer-D An alternate form of a gene is called a(n) ________. a. Allele b. Exome c. Genome d. Chromosomes e. mutation - Answer-A The Central Dogma is best described as ______. a. DNA to Protein to RNA b. Protein ...