1449 results
neurology clinical video physicalexam diagnosis differential algorithm management causes syndrome ophthalmology sign reflex pathophysiology treatment ocular pediatrics urine pharmacology renal
Classification of Diabetes Insipidus Central or neurogenic diabetes insipidus: - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant mutations ... Classification #Types #Nephrology
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
to inactivating mutations ... Pathophysiology #nephrology
Gitelman Syndrome - Diagnosis and Workup Blood Work: - Hypokalemia - Hypomagnesemia - Metabolic Alkalosis - Elevated
Biallelic inactivating mutations ... Diagnosis #Workup #nephrology
Causes of Metabolic Alkalosis: Differential Diagnosis ECF volume contracted: urine chloride concentration <20 meq/L • Gastric alkalosis:
2 inactivating mutation ... Diagnosis #Causes #nephrology
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
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these 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
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
- Caused by mutations
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman's syndrome - Mutation ... Syndrome #diagnosis #nephrology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
precursor protein mutations ... Presenilin 1 and 2 gene mutations
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