2456 results
diagnosis management differential algorithm clinical causes pharmacology neurology video cardiology physicalexam table nephrology hematology gastroenterology comparison pathophysiology rheumatology pulmonary medications
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
BEE Syndromes - ... diagnosis and treatment ... exonuclease 1 (TREX1) mutations ... recessive—Usher syndrome ... aura #BEE #Syndromes
Congenital Long QT Syndrome: Illness Script Who? - Kids or young adults, usually < 30 - high
Congenital Long QT Syndrome ... Various channel mutations ... family history) Treatment ... Congenital #LongQT #Syndrome
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... HLH-associated mutations ... • Bicytopenia Treatment ... diagnosis #management #treatment
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Constitutional Syndromes ... loss-of-function germline mutations ... Constitutional Syndromes ... marrow-failure syndromes ... aplastic anemia Treatment
Myelodysplastic Syndromes (MDS) What? Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly
Myelodysplastic Syndromes ... factor (GCSF) treatments ... have a specific mutation ... marrow studies Treatment ... Immunosuppressive treatment
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... • Gitelman's syndrome ... - Mutation in the ... • Bartter syndrome ... Rhabdomyolysis Treatment
Distal Renal Tubular Acidosis Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... diseases(Sjogren's Syndrome ... - SCNN mutation ... HTN (WNKI and 4 mutations
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Marfan Syndrome ... - Caused by mutations ... Dominant #Marfans #Syndrome
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Gardner's Syndrome Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Gardner's Syndrome ... Associated with mutation ... #Gardners #Syndrome
No results found for "Mutations treatment syndrome"
Try removing search terms or sorting by relevance
Or Upload an image for you and others searching for #Mutations #treatment #syndrome