9 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 #Differential ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Syndromic • Genetic ... DevelopmentalDelay #Differential ... Algorithm #Causes #Peds ... #Pediatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Threatening Event (ALTE ... ) - Differential ... Neuromuscular • Disorders ... Algorithm #Causes #Peds ... #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
, vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Medical Conditions Causing Mania or Mania-Like Episodes: Pathogenesis
 • Bipolar Disorder -> Combination of individual, genetic,
Pathogenesis • Bipolar Disorder ... of individual, genetic ... Adrenocortical hormones ... Secondary #Causes #Differential ... #Diagnosis #Pathophysiology
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Endocrine disorders ... - Mendelian genetic ... Secondary #diagnosis #differential ... #age #pediatrics ... #peds
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
fontanelle is also a late ... paediatrician or geneticist ... to exclude a posterior ... #Examination #Peds ... #Pediatrics #Diagnosis
Peripartum Cardiomyopathy (PPCM)

What is PPCM?
• A form of acute systolic heart failure that develops late in
• Hypertensive disorders ... combination of hormonal ... postpartum: 🧬 Hormonal ... Susceptibility • Genetic ... , selenium) Differential