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diagnosis algorithm treatment pharmacology criticalcare gastroenterology cardiology checklist peds table differential medications pediatrics pulmonary covid19 primarycare syndrome guidelines clinical comparison
Pocket Comparison Guide to Heritable Hypertension Syndromes (Secondary Hypertension) Bartter, Gitelman, Liddle, Primary Aldosteronism, GRA (Glucocorticoid Remediable
(Activating MR Mutation ... Table #Diagnosis #Management
Adenomatous Polyposis Syndromes: Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH associated polyposis (MAP) ✓ Genetic
- Germline APC mutation ... → Location of mutation ... adenomas - APC Mutation ... Biallelic MUTYH mutation ... Syndromes #diagnosis #management
Polycythemia Vera (PV) - Diagnosis and Management Summary Diagnostic Criteria: • Elevated hemoglobin and/or hematocrit AND •
Diagnosis and Management ... growth AND • JAK2 mutation ... PV #Diagnosis #Management
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
gene deletion or mutation ... #Diagnosis #Management
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
HLH-associated mutations ... Lymphohistiocytosis #diagnosis #management
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
Hamartomatous Polyposis Syndromes - Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), Cowden Syndrome (CS), Cronkhite-Canada (CC),
Dominant I STKII Gene Mutation ... Autosomal Dominant I Mutation ... " - PTEN gene mutation ... Syndromes #diagnosis #management
Hepatitis B - Treatment Indications Treatment not indicated: • Immune tolerant state - HBe-Ag detectable, high HBV
Presence of CP or PC mutation ... #Indications #management
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Essential Thrombocythemia (ET) ET is a chronic myeloproliferative neoplasm. Most cases are related to mutations that affect
are related to mutations ... ET-associated mutation ... hematology #diagnosis #management
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