Treatment for lesch nyhan - Study guides, Class notes & Summaries

Lesch-Nyhan Syndrome: what causes it and what are manifestations? correct answers 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 answers Allopurinol / febuxostat second line. Both of these dr...

Abdominal pain, ascites, hepatomegaly, (also high D dimer, CHF without JVD) - Answer Budd-Chiari syndrome Achilles tendon xanthoma - Answer Familial hypercholesterolemia Adrenal hemorrhage, hypotension, DIC - Answer Waterhouse-Friderichsen syndrome (meningococcemia) Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints - Answer Marfan's (fibrillin defect) Athlete with polycythemia - Answer Erythropoietin injection Back pain, fever, night sweats, weight loss - ...

CBSE BIOCHEM Exam With Complete Questions And Answers Graded A 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? Cor...

1 ABFAS BOARDS (REARFOOT AND FOREFOOT) EXAM | QUESTIONS & ANSWERS (VERIFIED) | LATEST UPDATE | GRADED A+ Properties of Calcium phosphate antibiotic beads Correct Answer: non exothermic Must use powder Peaks at 3 hours and then elutes over 72 hours 120 day shelf life Most common 5th metatarsal fracture Correct Answer: Avulsion fracture (about 50% of 5th met fractures) normal IM between 4 and 5? normal lateral bowing angle? Correct Answer: IM= 6.5-9.0 bowing angle=2.6 What is t...

1 ABFAS BOARDS (REARFOOT AND FOREFOOT) EXAM | QUESTIONS & ANSWERS (VERIFIED) | LATEST UPDATE | GRADED A+ Properties of Calcium phosphate antibiotic beads Correct Answer: non exothermic Must use powder Peaks at 3 hours and then elutes over 72 hours 120 day shelf life Most common 5th metatarsal fracture Correct Answer: Avulsion fracture (about 50% of 5th met fractures) normal IM between 4 and 5? normal lateral bowing angle? Correct Answer: IM= 6.5-9.0 bowing angle=2.6 What is t...

USMLE REVIEWED QUESTIONS AND ANSWERS Abdominal pain, ascites, hepatomegaly, (also high D dimer, CHF without JVD) - CORRECT ANSWER-Budd-Chiari syndrome Achilles tendon xanthoma - CORRECT ANSWER-Familial hypercholesterolemia Adrenal hemorrhage, hypotension, DIC - CORRECT ANSWERWaterhouse-Friderichsen syndrome (meningococcemia) Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints - CORRECT ANSWER-Marfan's (fibrillin defect) Athlete with polycythemia - CORRECT A...

TOPIC: BIOCHEMISTRY - MOLECULAR / "CHROMATIN STRUCTURE" WHAT BINDS TO THE NUCLEOSOME AND TO LINKER DNA TO STABILIZE CHROMATIN FIBER? - ANSWER-H1 TOPIC: BIOCHEMISTRY - MOLECULAR / "CHROMATIN STRUCTURE PHOSPHATE GIVES DNA WHAT CHARGE? - ANSWER-NEGATIVE TOPIC: BIOCHEMISTRY - MOLECULAR / "CHROMATIN STRUCTURE WHAT GIVES HISTONES A POSITIVE CHARGE? - ANSWER-LYSINE AND ARGININE TOPIC: BIOCHEMISTRY - MOLECULAR / "CHROMATIN STRUCTURE WHEN DOES DNA CONDENSE TO FORM CHROSOMES? - A...

Lesch-Nyhan Syndrome: what causes it and what are manifestations? - ️️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? - ️️Allopurinol / febuxostat second line. Both of these drugs inhibit xant...

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)...

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