7 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 ... #signs #symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
-55; f 50-60y (hormonal ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... nodules; anterior/posterior ... Diagnosis #Management #Signs
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... cardiomyopathy • Pulmonary ... Genetic predisposition ... during Delivery • Stable ... teratogenic GDMT meds