2919 results
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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
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Symptoms - Caused ... by mutations in
Retinoblastoma - MRI • Most common intra-ocular neoplasm in children. • Clinical Presentation: leukocoria (loss of
have a germline mutation ... tumours (60-70%) are caused ... by a germline mutation ... in 15% of cases ... With germline mutations
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
Causes of Hypercalcemia ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation ... Hypercalcemia #VitaminD #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
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... molecular defect, CFTR mutations ... trafficking defect caused ... Other mutations ... CysticFibrosis #Mutations
Causes of Hypercalcemia Parathyroid gland structure-related • Primary hyperparathyroidism • Parathyroid adenoma • Parathyroid hyperplasia • Parathyroid
Causes of Hypercalcemia ... receptor-gene mutations ... Hypercalcemia #Causes
UROLITHIASIS 80% of stones are composed of calcium oxalate or phosphate. Others include uric acid (9%),
disorder causing mutations ... These mutations ... cause defective
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... and gut, which causes
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
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