17 results
diagnosis differential peds causes treatment adrenal hypocalcemia iem inbornerrors management metabolism neonatology nephrology nicu table 21hydroxylasedeficiency 21ohd acromegaly cah calcium
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm Primary Adrenal Insufficiency: • Autoimmune primary adrenal insufficiency • Adrenoleukodystrophy,
Differential Diagnosis Workup ... Algorithm Primary ... Adrenoleukodystrophy, genetic ... Differential #Diagnosis #Workup ... #Algorithm #endocrinology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... #causes #pediatrics ... treatment #Peds #Endocrinology ... #Adrenal #pathophysiology
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Hypocalcemia Workup - Differential Diagnosis Algorithm • Low Magnesium, High Magnesium - Functional Hypoparathyroidism • High
Hypocalcemia Workup ... Differential Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... metastases, Hungry bone syndrome ... #Hypocalcemia #Workup
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Differential Diagnosis Algorithm ... Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds #Pediatrics
Hypophosphatemia - Differential Diagnosis Algorithm Appropriately Low Kidney Phosphate Excretion: • Decreased GI Absorption: Chronic Diarrhea, Antacids,
Differential Diagnosis Algorithm ... Shift: Refeeding Syndrome ... Alkalosis, Tumor Genesis ... Differential #Diagnosis #Algorithm ... nephrology #phosphorus #workup
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