4011 results
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
Non-inflammatory Causes ... Non-inflammatory causes ... exonuclease 1 (TREX1) mutations ... BEE #Syndromes #neurology
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
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
due to ALS - Mutations ... - Causes progressive ... Escorial criteria uses ... Lateral #Sclerosis #neurology
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)
-
Symptoms - Caused ... by mutations in
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 ... Classification #Types #Nephrology
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
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
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