17 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Table #IEM #NICU
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
Pathyophysiology - hyperglycemic crises in patients with diabetes 
Key signs/symptoms of HHS/DKA:
Both: Polyuria, polydipsia, weight loss,
Pathyophysiology ... diabetes Key signs ... /symptoms of HHS ... seizure) #Pathophys #EM ... #IM #Endo #DKA
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #pathophysiology
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
cases Clinical Signs ... years - May have signs ... /symptoms of active ... decreased reflexes Pathophysiology ... intervention CMC IM
Bullous Pemphigoid - Diagnosis and Management Summary
Pathophysiology: Autoantibody-mediated damage to epithelial basement membrane -> separation of
Management Summary Pathophysiology ... dermis Clinical Signs ... /Symptoms/Exam findings ... feasible CMC IM
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
Hunter's Decision Rule (Sensitivity 84%, Specificity 97%), Sternbach's criteria - Need 3 of 10 symptoms: (Sensitivity
- Need 3 of 10 symptoms ... 96%) #Diagnosis #EM ... #IM #Serotonin ... #Syndrome #Hunters ... #Algorithm #Sternbach