4896 results
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
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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Symptoms - Caused ... by mutations in
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Causes of Dilated ... cardiomyopathy, Genetic causes ... , Unknown causes ... recessive, X-Iinked mutations ... Other secondary causes
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
Causes of Hypercalcemia ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation ... Hypercalcemia #VitaminD #causes
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer's (99% of cases ... Alzheimer's (1% of cases ... precursor protein mutations ... Presenilin 1 and 2 gene mutations
Drugs Causing Acute Pancreatitis

Class Ia: The medications in which there was a rechallenge and other causes
rechallenge and other causes ... out other common causes ... Class II: Cases ... and atleast4 case ... #Pancreatitis #Causes
Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
 - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant mutations ... uropathy, Metabolic causes
Causes of Erythema Nodosum - Mnemonic

NO cause found in 60% of cases
Drugs (antibiotics e.g., sulfonamides, amoxicillin)
Oral
Causes of Erythema ... Mnemonic NO cause ... found in 60% of cases ... Nodosum #Mnemonic #Causes
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