1323 results
Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
 - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant mutations ... Treatment is aimed
Polycythemia Vera (PV) - Diagnosis and Management Summary
Diagnostic Criteria:
 • Elevated hemoglobin and/or hematocrit AND
 •
growth AND • JAK2 mutation ... Splenomegaly Treatment ... currently available treatments ... • Treatment is ... • Treatment algorithms
Hepatitis B - Treatment Indications
Treatment not indicated:
 • Immune tolerant state - HBe-Ag detectable, high HBV
Hepatitis B - Treatment ... Indications Treatment ... ), normal ALT Treatment ... Presence of CP or PC mutation ... history of HCC Treatment
Essential Thrombocythemia (ET)
ET is a chronic myeloproliferative neoplasm. Most cases are related to mutations that affect
are related to mutations ... ET-associated mutation ... PV, MDS, CML) Treatment ... • Treatment is ... • Treatment algorithms
Congenital Long QT Syndrome: Illness Script

Who?
 - Kids or young adults, usually < 30
 - high
Various channel mutations ... family history) Treatment
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
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
diagnosis and treatment ... exonuclease 1 (TREX1) mutations
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
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