1661 results
clinical diagnosis video physicalexam nephrology differential algorithm management causes syndrome urology ophthalmology pathophysiology sign reflex treatment ocular pediatrics pharmacology anatomy
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 ... clinical #video #neurology
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 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 ... clinical #video #neurology
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 BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
exonuclease 1 (TREX1) mutations ... BEE #Syndromes #neurology
Diagnostic Scoring System for Wilson's Disease - Kayser-Fleischer rings (2 points) - Neurological symptoms (2 points)
(2 points) - Mutation ... Scoring #diagnosis #neurology
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
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
due to ALS - Mutations ... Lateral #Sclerosis #neurology
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) -
- Caused by mutations
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