2747 results
diagnosis management differential causes signs treatment pathophysiology cardiology peds nephrology clinical neurology workup hematology pulmonary gastroenterology pediatrics ddxof syndrome endocrinology
Polycythemia Vera (PV) - Diagnosis and Management Summary Diagnostic Criteria: • Elevated hemoglobin and/or hematocrit AND •
growth AND • JAK2 mutation ... When present, symptoms ... • "Vasomotor" symptoms ... the reduction of symptoms ... • Treatment algorithms
Essential Thrombocythemia (ET) ET is a chronic myeloproliferative neoplasm. Most cases are related to mutations that affect
are related to mutations ... When present, symptoms ... • "Vasomotor" symptoms ... ET-associated mutation ... • Treatment algorithms
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
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm • Polycythemia vera → Blood JAK2 mutation screening
myelofibrosis Diagnosis Algorithm ... vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
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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