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Venous Thrombosis vs Arterial Thrombosis - Differential Diagnosis Framework VENOUS THROMBOSIS • Acquired Risk Factors: - >48 hours
Factor V Leiden mutation ... Prothrombin gene mutation ... considered in all cases ... coagulation and other causes ... Venous #Arterial #pathophysiology
Hemolysis in Hereditary Spherocytosis. Panel A shows the structure of a normal red cell and a
Gene mutations of ... deficiencies that cause ... #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Autosomal recessive mutation ... enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology
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
lateral sclerosis Pathophysiology ... due to ALS - Mutations ... - Causes progressive ... Escorial criteria uses
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 ... AlzheimersDisease #Dementia #pathophysiology
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
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
Jaundice - Pathophysiology and Causes - Amy Chung, MD, MSc @AmyChung #Jaundice #Pathophysiology #Differential #Unconjugated #Causes #Diagnosis
Jaundice - Pathophysiology ... and Causes - ... #Jaundice #Pathophysiology ... #Unconjugated #Causes
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