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Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... 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 ... MRI lesions and clinical
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
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 Clinical ... aplastic anemia Treatment
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
combination of the clinical ... due to ALS - Mutations ... cellular function Clinical ... Exam: clinical evidence ... diagnosis column Treatment
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, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Antibiotic treatment durations for first line antibiotics recommended by Public Health England (PHE) guidance • Acute
Antibiotic treatment ... durations for first ... Antibiotics #management #durations ... primarycare #outpatient #treatment
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
- Caused by mutations
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