Ataxia telangiectasia - Study guides, Class notes & Summaries

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...

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

USMLE Step 1 - uWorld High Yield Notes with 100% Correct Score 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 defi...

USMLE STEP 1 - UWORLD HIGH YIELD EXAM 2024 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 C...

USMLE Step 1 - uWorld High Yield Notes Rated A 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 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 is the pathophysiology? - NADPH Oxidase defici...

USMLE Step 1 - uWorld High Yield Notes Exam Questions & Answers 2023/2024 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 th...

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? - Ans...

Age at which kids develop B-cell deficiency problems? Which type of cell is defective in children with recurrent opportunistic/fungal infections? What are the 4 B-and T-cell immunodeficiencies? What are classic (triad) findings of Ataxia telangiectasia? What are signs that indicate suspicion for CGD? What test confirms CGD? What are the 3 Phagocytic immunodeficiencies? What is the worst arrhythmia which kids with long QT interval are at risk for?

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 irrespon...