Ataxia telangiectasia - Study guides, Class notes & Summaries

A woman is seen for genetic counseling because her three year old son was recently diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the diagnosis and the fact that she passed along this disease to her son. Her son's physician has referred her to see a cardiologist on numerous occasions but she has not kept the scheduled appointments. What is the best approach to take with this patient to encourage her to see a cardiologist? A) Tell her that she is being ...

ABGC Practice Questions and Answers A woman is seen for genetic counseling because her three year old son was recently diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the diagnosis and the fact that she passed along this disease to her son. Her son's physician has referred her to see a cardiologist on numerous occasions but she has not kept the scheduled appointments. What is the best approach to take with this patient to encourage her to see a cardiolo...

UAMS Immunology Exam 4 Questions & Answers 2024/2025 transient hypogammaglobulinemia of infancy X linked Bruton's agammaglobulinemia IgA deficiency common variable immunodeficiency (CVI) - ANSWERSlist the primary deficiencies of the B cell system. DiGeorge anomaly purine-nucleoside phosphorylase (PNP) deficiency - ANSWERSlist the cellular immunity deficiencies. severe combined immunodeficiency (SCID) wiskott-aldrich syndrome (WAS) ataxia-telangiectasia (AT) - ANSWERSlist the co...

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

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, an...

Unit 8 – Immunodeficiencies Questions & Answers What type of immunodeficiencies disorders are these?: - DiGeorge syndrome - Severe combined immune deficiency - Chronic mucocutaneous candidiasis - ANS-Cellular immunodeficiencies What type of immunodeficiencies disorders are these?: - Ataxia-telangiectasia - Wiskott-Aldrich syndrome - ANS-T-cell immunodeficiencies What type of immunodeficiencies disorders are these?: - Bruton x-linked agammaglobulinemia - Common variable immunodeficien...

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...

Unit 8 – Immunodeficiencies Questions & Answers What type of immunodeficiencies disorders are these?: - DiGeorge syndrome - Severe combined immune deficiency - Chronic mucocutaneous candidiasis - ANS-Cellular immunodeficiencies What type of immunodeficiencies disorders are these?: - Ataxia-telangiectasia - Wiskott-Aldrich syndrome - ANS-T-cell immunodeficiencies What type of immunodeficiencies disorders are these?: - Bruton x-linked agammaglobulinemia - Common variable immunodeficien...

USMLE PRACTICE STUDY QUESTIONS AND ANSWERS What are the two major microtubular motor proteins? Which does anterograde axonal transport, which does retrograde axonal transport? - CORRECT ANSWER-Kinesin, Dynein Kinesin: Anterograde Dynein: Retrograde` What do you think, immunologically speaking, when you see someone with recurrent Neisseria infections? - CORRECT ANSWER-Inability to form the membrane attack (MAC) complex this is a common complement deficiency What is the defect in...

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