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diagnosis management hematology genetics signs 21hydroxylasedeficiency 21ohd aflp alzheimersdisease ammonia apml arterial biliary childhood cholangitis cirrhosis dementia differentiation embolism encephalopathy
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... Dehydration • Symptoms ... : • Pathophysiology ... diagnosis #management #hematology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
although hepatic causes ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
Childhood Immunization Schedule: Why we immunize • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
URT inflammation causes ... hemorrhagic rash; symptoms ... non-specific viral symptoms ... #Immunization #peds ... #pediatrics #pathophysiology
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... infiltration) Differential ... Liver #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Electrolyte/fluid shifts caused ... changes and may cause ... overload) Other Symptoms ... #Nutrition #Differential ... #Diagnosis #Pathophysiology
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Global mortality: 9- ... survival is 93-95% Pathophysiology ... patients have no symptoms ... : (distinct symptoms ... ) • Löfgren syndrome
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
• Female:Male 9: ... 65 years PBC Pathophysiology ... intralobular bile ducts causes ... PBC Signs and Symptoms ... bile ducts Differential
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
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