20 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... See the lab values ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
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 ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #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
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 ... sudden death • Lab values ... Syndrome #TLS #diagnosis ... #management #hematology
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
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... ) Differential Diagnosis ... Monitor and Treat Complications ... Liver #Pregnancy #hepatology
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 ... #workup #hepatology
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
asymptomatic at diagnosis ... CHOLANGITIS - Genetic ... Care focuses on symptom ... #Cholangitis #diagnosis ... management #summary #Hepatology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics