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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
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 ... cytogenetics #hematology
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome Clinical Syndrome: • Common Clinical Features: alveolitis, ear and
vasculitis • Hematologic ... criteria for 1) hematologic ... Features: • somatic mutations ... ubiquitylation • mutations ... Autoinflammatory #Somatic #rheumatology
Thrombotic Microangiopathies In Systemic Lupus Erythematosus Dr. Laurent ARNAUD @Lupusreference #TMAs #Thrombotic #Microangiopathies #Systemic #Lupus #Erythematosus #SLE #hematology
Erythematosus #SLE #hematology ... #rheumatology #
Causes of Neutropenia with Pancytopenia - Differential Diagnosis Algorithm Sequestration: • Splenomegaly Marrow Infiltration: • Hematologic and non-hematologic
Infiltration: • Hematologic ... and non-hematologic ... Algorithm #Causes #Hematology
Summary of haemotology cell lineages and the malignancies associated with them. Visit gramproject.com for more medical
Summary of haemotology ... #algorithm #hematology
Hypereosinophilia and Hypereosinophilic Syndrome • Secondary Hypereosinophilic Syndrome • Clinically Relevant HES Variants • When to
suspect underlying hematologic ... Syndrome #HES #Hematology
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
- Caused by mutations
Causes of Thrombocytosis - Differential Diagnosis Algorithm Spurious: • Artifact (redo CBC) Autonomous: • Essential thrombocytosis • Polycythemia
Non malignant hematologic ... states • Non-hematologic ... Algorithm #Causes #Hematology
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