2471 results
diagnosis clinical video physicalexam nephrology differential management algorithm signs pathophysiology causes syndrome treatment ophthalmology urology pediatrics comparison table pharmacology sign
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
Visual or auditory symptoms ... conjunction with symptoms ... exonuclease 1 (TREX1) mutations ... BEE #Syndromes #neurology
Diagnostic Scoring System for Wilson's Disease - Kayser-Fleischer rings (2 points) - Neurological symptoms (2 points)
- Neurological symptoms ... (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
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Syndrome - Signs and Symptoms ... - Caused by mutations ... Diagnosis #Signs #Symptoms
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
due to ALS - Mutations ... fasciculations Common Symptoms ... 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
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
precursor protein mutations ... Presenilin 1 and 2 gene mutations ... chromosome 21) Signs / Symptoms ... diagnosis #signs #symptoms
Cystic Fibrosis An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Mutations affect ... CysticFibrosis #Signs #Symptoms
Gardner's Syndrome Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Diagnosis #Signs #Symptoms
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
findings • Sporadic mutation ... • Inherited mutation ... Retinoblastoma Signs / Symptoms ... diagnosis #signs #symptoms
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