7 results
diagnosis genetics peds 21ohd aflp endocrinology fatty fungal hematology hemeonc hemophagocytic hepatology hlh infections infectiousdiseases lacticacidosis lymphohistiocytosis mala metformin mycoses
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... Intrahepatic Cholestasis Management ... obgyn #diagnosis #management ... #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Metformin Associated Lactic Acidosis (MALA) Pathophysiology of MALA - Metformin interferes with the activity of the
Acidosis (MALA) Pathophysiology ... cycle found in the liver ... also includes symptoms ... Toxicology #Diagnosis #Management
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... heart (2-5%), liver ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
Mycoses HISTOPLASMOSIS • Inhalation of conidia → Yeast → travel to lymph nodes → spread in body • Bird
acute respiratory symptoms ... Rheumatologic symptoms ... Mississippi and Ohio River ... Aspergillosis Pathophysiology ... Fungal #Diagnosis #Management
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Common Signs and Symptoms ... - Elevated liver ... Pathophysiology ... Approach • Initial management
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