10 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
- Differential Diagnosis ... Algorithm Isolated ... • Genetic Disorder ... #Algorithm #Causes ... #Peds #Pediatrics
Causes of Pediatric Constipation - Differential Diagnosis Algorithm
Dietary / Functional:
 • Insufficient Volume / Bulk
Neurologic:
 •
Causes of Pediatric ... - Differential Diagnosis ... Algorithm Dietary ... Guillain-Barré Syndrome ... #Peds #Pediatrics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
- Differential Diagnosis ... Algorithm Increased ... • Nephrotic Syndrome ... Increased Estrogen (e.g ... #PrimaryCare
Causes of Congenital Anomalies - Differential Diagnosis Algorithm
Malformation
 • Embryonic development failure or inadequacy (often multifactorial)
Deformation
- Differential Diagnosis ... Algorithm Malformation ... of Anomalies (Syndromic ... #Algorithm #Causes ... #Peds #Pediatrics
Causes of Male Infertility - Differential Diagnosis Algorithm
Sperm Transport:
 • Vasectomy
 • Cystic fibrosis gene mutation
- Differential Diagnosis ... Algorithm Sperm ... • Kartagener syndrome ... High FSH/LH: • Genetic ... #PrimaryCare
Pediatric Constipation - Differential Diagnosis Algorithm
Dietary/Functional
 • lnsufficient Volume / Bulk
Neurologic
 • Hirschsprung's Disease
 • Imperforate
Pediatric Constipation ... - Differential Diagnosis ... Algorithm Dietary ... Guillan-Barré Syndrome ... #Peds
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
• Serotonin Syndrome ... serotoninergic meds ... disease caused by genetic ... Toxidromes #comparison #table ... #diagnosis #differential
Helpful Clinical Features in Evaluating Bleeding Disorders
Age of onset
 • Neonate - in 20% of haemophilias,
Drug history, e.g ... Marfan syndrome, ... Disorders #History #peds ... #pediatrics #diagnosis ... #hematology #primarycare