3979 results
Polycythemia Vera (PV) - Diagnosis and Management Summary
Diagnostic Criteria:
 • Elevated hemoglobin and/or hematocrit AND
 •
Diagnosis and Management ... growth AND • JAK2 mutation ... present, symptoms, signs ... PV #Diagnosis #Management
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Diagnosis: HLH signs ... HLH-associated mutations ... Lymphohistiocytosis #diagnosis #management
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
due to ALS - Mutations ... of UMN and LMN signs ... of UMN and LMN signs ... EMG: LMN Signs in ... neurology #diagnosis #management
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
Marfan Syndrome - Signs ... - Caused by mutations ... Syndrome #Diagnosis #Signs
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
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 ... geriatrics #diagnosis #signs
Abdominal Pain - Physical Examination Signs and Maneuvers
 - Murphy's sign
 - Kehr's sign
 - McBurney's
- Kehr's sign ... - McBurney's sign ... - Psoas sign ... - Obturator's sign ... - Cough sign
Cystic Fibrosis 
An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Mutations affect ... CysticFibrosis #Signs
Gardner's Syndrome
Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Polyposis #Diagnosis #Signs