3236 results
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Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Symptoms - Caused ... fibrillin-1 (FBN1) Gene
Causes of Congenital Anomalies - Differential Diagnosis Algorithm Malformation • Embryonic development failure or inadequacy (often multifactorial) Deformation
Causes of Congenital ... Chromosomal • Single Gene ... Diagnosis #Algorithm #Causes
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Psychosexual & gender
Classification of Diabetes Insipidus Central or neurogenic diabetes insipidus: - Congenital - Structural malformations affecting the hypothalamus
mutations in the gene ... mutations in AVPR2 gene ... mutations in AQP-2 gene ... uropathy, Metabolic causes
When to look for clonal/neoplastic hypereosinophilia (HEo)? - Exclusion of frequent causes (Drug-induced HEo, helminthiasis, cancer,
Exclusion of frequent causes ... symptoms (Male gender
Causes of Hypercalcemia Parathyroid gland structure-related • Primary hyperparathyroidism • Parathyroid adenoma • Parathyroid hyperplasia • Parathyroid
Causes of Hypercalcemia ... Calcium-sensing receptor-gene ... Hypercalcemia #Causes
Basophilia - Differential Diagnosis Framework Basophils < 1% of the total white blood cell count Basophils function similarly
BCR-ABL1 fusion gene ... Chickenpox Other Causes ... Differential #Diagnosis #causes
Emergent Causes of Headache and Associated Risk Factors Carbon monoxide poisoning - Breathing in enclosed or confined
Emergent Causes ... abnormalities - Female gender ... thrombosis - Female gender
Classification of Jaundice Unconjugated hyperbilirubinemia (predominantly indirect bilirubin) • Increased bilirubin production (eg, hemolytic anemias, hemolytic reactions,
or mutation in genes ... 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
Non-inflammatory Causes ... Non-inflammatory causes ... optic atrophy-1 gene ... (OPA1) gene •
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