15 results
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
Tetralogy of Fallot Summary ... • Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... #pediatrics #treatment
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
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
additions, for diagnosing ... 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
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
Cor triatriatum
 • Epidemiology
 • Etiology
 • Associated Lesions
 • Differentials Diagnosis
 • Anatomy - Sinister,
Associated Lesions • Differentials ... Diagnosis • Anatomy ... Physiology • Clinical ... management #cardiology #summary ... #peds #pediatrics
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
inflamed epiglottis Clinical ... Epiglottitis #Signs #Causes ... #Diagnosis #Differential ... #Peds #Pediatrics
The infant with tachypnea or wheeze - Clinical Conditions to Consider
 - Bronchiolitis 
 - Pneumonia
tachypnea or wheeze - Clinical ... disorder - Other causes ... #Diagnosis #Peds ... #Pediatrics #Infant ... Tachypnea #Wheeze #Differential
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
and Management Summary ... GrepMed Handbook Clinical ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... or refractory cases