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diagnosis signs hepatology peds management psychiatry primary anorexianervosa biliary bulimianervosa cholangitis differential iem inbornerrors metabolism neonatology nicu pbc riskfactors syndrome
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... See the lab values ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
A table of lab values ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Primary Biliary Cirrhosis - Pathophysiology Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish Epigentics Risk
Primary Biliary Cirrhosis ... - Pathophysiology ... DNA methylation Genetic ... Primary #Biliary #Cirrhosis ... #hepatology
Etiology and Complications of Cirrhosis #Causes #Complications #Cirrhosis #Differential #Pathophysiology #Hepatology
Etiology and Complications ... of Cirrhosis ... #Causes #Complications ... #Pathophysiology ... #Hepatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
chromosome 21) Signs / Symptoms ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... priapism • Lab values ... Lysis Syndrome: • Pathophysiology ... sudden death • Lab values ... diagnosis #management #hematology
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... Monitor and Treat Complications ... Liver #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
Primary Biliary Cirrhosis ... 65 years PBC Pathophysiology ... cholestasis → Cirrhosis ... PBC Signs and Symptoms ... diagnosis #workup #hepatology
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