2752 results
Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
 - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... granulomatous diseases ... : 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 ... • Treatment is ... • Treatment algorithms ... von Willebrand disease
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
age, however the disease ... 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
and less common diseases ... diagnosis and treatment ... infections • Lyme disease ... 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 ... - Autoimmune diseases ... - Sickle cell disease ... - SCNN mutation
Typical Therapeutic Applications of Penicillin G
Pneumococcal Pneumonia
 • Streptococcus pneumoniae is a major cause of bacterial
worldwide due to mutations ... contagious venereal disease ... • A single treatment
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
due to ALS - Mutations ... Presentation: - Disease ... course of the disease ... 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
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
granulomatous diseases ... vasculitis, Crohn's disease ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman's syndrome - Mutation ... • Autoimmune disease ... Rhabdomyolysis Treatment