2051 results
Polycythemia Vera (PV) - Diagnosis and Management Summary
Diagnostic Criteria:
 • Elevated hemoglobin and/or hematocrit AND
 •
growth AND • JAK2 mutation ... When present, symptoms ... • "Vasomotor" symptoms ... • Treatment is ... the reduction of symptoms
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 ... the reduction of symptoms
Congenital Long QT Syndrome: Illness Script

Who?
 - Kids or young adults, usually < 30
 - high
live births Symptoms ... arrest/death - Symptoms ... Various channel mutations ... family history) Treatment
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
HLH signs and symptoms ... HLH-associated mutations ... • Bicytopenia Treatment ... diagnosis #management #treatment
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 ... diagnosis and treatment ... exonuclease 1 (TREX1) mutations
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
loss-of-function germline mutations ... aplastic anemia Treatment ... • Improve the symptoms
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 ... diagnosis column Treatment
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations