3200 results
Myoclonus-Dystonia on Physical Exam

Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
dominant (SCGE Gene mutation ... patient had NO SCGE mutation ... PhysicalExam #clinical #video ... #neurology #MD
Myoclonus-Dystonia on Physical Exam

Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
dominant (SCGE Gene mutation ... patient had NO SCGE mutation ... PhysicalExam #clinical #video ... #neurology #MD
Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Uremic Asterixis on Physical Exam

Dr. Arvind Canchi @arvindcanchi

#Uremia #Asterixis #PhysicalExam #clinical #video #neurology #nephrology
PhysicalExam #clinical #video ... #neurology #nephrology
Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
 - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant mutations ... Classification #Types #Nephrology
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
 • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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- Caused by mutations
Jaw-Jerk Reflex Clonus in ALS

- Neurology Pro - A DDx Tool @ProDdx

#JawJerk #Jaw #Jerk #Reflex #Clonus
Clonus in ALS - Neurology ... ALS #clinical #video ... #neurology #amyotrophic
Brudzinski's Sign on Physical Exam - Meningitis

#Brudzinskis #Sign #PhysicalExam #clinical #video #neurology #peds #pediatrics #meningitis
PhysicalExam #clinical #video ... #neurology #peds