8014 results
video pocus physicalexam diagnosis ultrasound cardiology radiology ophthalmology echocardiogram photo msk management ocular nephrology differential sign orthopedics algorithm pulmonary ucsdh
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
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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 ... #PhysicalExam #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 ... MRI lesions and clinical ... BEE #Syndromes #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
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
combination of the clinical ... due to ALS - Mutations ... cellular function Clinical ... Exam: clinical evidence ... Lateral #Sclerosis #neurology
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... precursor protein mutations ... Presenilin 1 and 2 gene mutations
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