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Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Marfan Syndrome ... Symptoms - Caused ... by mutations in ... Dominant #Marfans #Syndrome
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
Causes of Hypercalcemia ... Genetic: Williams syndrome ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation ... Hypercalcemia #VitaminD #causes
Classification of Jaundice Unconjugated hyperbilirubinemia (predominantly indirect bilirubin) • Increased bilirubin production (eg, hemolytic anemias, hemolytic reactions,
, Rotor syndrome ... ) or mutation in ... cholestasis, and some cases ... miscellaneous causes ... #differential #causes
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
BEE Syndromes - ... Non-inflammatory Causes ... Non-inflammatory causes ... exonuclease 1 (TREX1) mutations ... recessive—Usher syndrome
Causes of Hypercalcemia Parathyroid gland structure-related • Primary hyperparathyroidism • Parathyroid adenoma • Parathyroid hyperplasia • Parathyroid
Causes of Hypercalcemia ... receptor-gene mutations ... • Milk-alkali syndrome ... Hypercalcemia #Causes
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... genetic disorder, caused ... gene deletion or mutation ... with Kleefstra Syndrome ... Pediatrics #Kleefstra #Syndrome
Causes of Metabolic Alkalosis: Differential Diagnosis ECF volume contracted: urine chloride concentration <20 meq/L • Gastric alkalosis:
Causes of Metabolic ... Severe Cushing syndrome ... Congenital AME syndrome ... 2 inactivating mutation ... Differential #Diagnosis #Causes
Causes of Male Infertility - Differential Diagnosis Algorithm Sperm Transport: • Vasectomy • Cystic fibrosis gene mutation
Causes of Male Infertility ... fibrosis gene mutation ... • Kartagener syndrome ... : • Kallmann syndrome ... Diagnosis #Algorithm #Causes
Venous Thrombosis vs Arterial Thrombosis - Differential Diagnosis Framework VENOUS THROMBOSIS • Acquired Risk Factors: - >48 hours
Factor V Leiden mutation ... Prothrombin gene mutation ... • Nephrotic Syndrome ... considered in all cases ... coagulation and other causes
Myelodysplastic Syndromes (MDS) What? Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly
group of disorders caused ... age • 22 and 45 cases ... skin that are caused ... Out Secondary Causes ... have a specific mutation
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