7 results
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 ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Differential Diagnosis Algorithm ... - Gitelman SIGNS ... Cl⁻ with other components ... Differential #Diagnosis #Algorithm ... #Pathophysiology
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
Preoperative Risk Evaluation

Major Pre-Op Questions:
1. Does the patient have any modifiable risk factors that could be
Key Components: ... ADLs - Highest metabolic ... physical exam - Key components ... event, follow ACC algorithm ... Cataract Plan for Meds
Rickets and Osteomalacia: Pathogenesis and Clinical Findings
 • Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
of bone mineral components ... Abnormal Vitamin D Metabolism ... #Osteomalacia #pathophysiology ... #diagnosis #signs