17 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
Signs and Symptoms of Respiratory Distress Through the Years. 

#signs #symptoms #diagnosis #differential #neonatal #pediatrics #adult
Signs and Symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary ... respiratory #distress #causes
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
#Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
Pediatric SVT - Management Algorithm
Identify SVT:
 • HR not variable
 • Abrupt rate changes
 • Infants:
Pediatric SVT - ... Management Algorithm ... AP Stable? ... Signs of shock or ... #Algorithm #peds
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... Diagnosis #Algorithm #Causes ... #Peds #Pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classic “snowman sign ... Pre-Operative Management ... Outcomes by Cara ... #cardiology #peds ... #pediatrics #summary
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

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

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... paresthesias (carpal ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... or refractory cases