5 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
presentations in acute ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential #
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... for diagnosing acute ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Labia major & minor ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Aortoenteric Fistula - Diagnosis and Management Summary
Epidemiology:
• Uncommon but life-threatening
• Most common site of bowel connection
duodenum Clinical Signs ... /Symptoms: • Classic ... • Should be on differential ... Pathophysiology: ... patients with acute