Ataxia telangiectasia - Study guides, Class notes & Summaries

USMLE Step 1 - uWorld High Yield Notes Question already solved 2023What 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 Chroni...

-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 infections...dx= correct answer ataxia telangiectasia Pt presents with t...

Biochemistry NBME Exam Questions and Complete Solutions Updated Histones beads on a string (analbeads) -rich in arginine and lysine -heterochromatin is condensed -euchromatin is transcribed -cytosine and adenine are methylated in DNA transcription allowing for mismatch enzymes in PROKARYOTES -histone methylation inactivates transcription of DNA. acetylation activates it nucleotides pure as gold are purines (adenine and guanine) -2 rings pyrimidines are Cut The Pie -uracil...

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 ...

USMLE Step 1 - uWorld High Yield Notes Question and answers 100% solved 2023What 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 are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What is the defect...

NBME Final – Biochem Exam Questions and Answers 100% Pass Lesch-Myhan syndrome - answer- X-linked recessive - absent *HGPRT* (hypoxanthine guanine phosphoribosyl transferase) (hypoxanthine --> IMP & guanine --> GMP) - excess *uric acid* *H*yperuricemia (orange "sand" in diaper) *G*out *P*issed off (aggression, self-mutilation) *R*etardation Dys*T*onia Adenosine deaminase deficiency - answer- toxicity in lymphocytes - autosomal recessive SCID Irinotecan/topotecan - answ...

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 Granulomatous disease? What is the pathophysiology? - A...

-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 _______ - 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 infections...Dx= - Ataxia Telangiectasia Pt presents with Thrombocytopenia, Eczema, and Recur...

CPHON Exam 117 Questions with Verified Answers Auer rods - CORRECT ANSWER AML distinguishing feature Leukemia - CORRECT ANSWER Malignant disorder of the blood and blood forming organs including the bone marrow, lymph nodes and spleen Cytogenetics for Leukemia - CORRECT ANSWER Ploidy; abnormalities found in more than 90% of patients with ALL; with number of chromosomes and structures (translocation) Hyperdiploidy in ALL - CORRECT ANSWER More than 46; favorable if not more than 50 G...

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. 2. Treatment for Lesch-Nyhan? - ***Allopurinol / febuxostat second line. Both of these drugs inhibit...