106 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... Neonatology #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... cardiology #peds #pediatrics
Brudzinski's Sign on Physical Exam - Meningitis

#Brudzinskis #Sign #PhysicalExam #clinical #video #neurology #peds #pediatrics #meningitis
Brudzinski's Sign ... #Brudzinskis #Sign ... clinical #video #neurology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Practical Pediatric Viral Rash Algorithm

Child presenting with rash and current/ recent symptoms of viral illness but
Practical Pediatric ... five days and no signs ... is the likely diagnosis ... Viral #Algorithm #Pediatrics ... #Peds #Diagnosis
The Febrile Child - some diagnostic clues to evaluating the febrile child.

#Febrile #Fever #Evaluation #Assessment #Signs
Febrile Child - some diagnostic ... Evaluation #Assessment #Signs ... #PhysicalExam #Diagnosis ... #Peds #Pediatrics
Gowers' Sign on Physical Exam

Seen in this patient with Duchenne muscular dystrophy (DMD)

#Gowers #Sign #PhysicalExam #neurology
Gowers' Sign on ... DMD) #Gowers #Sign ... #PhysicalExam #neurology ... clinical #video #pediatrics
Infant of a Diabetic Mother - complications - pathophysiology learning schema
Information source: UpToDate

#Infant #Diabetic #Mother #Pediatrics
complications - pathophysiology ... Diabetic #Mother #Pediatrics ... #NICU #OBGYN #Diagnosis ... #Pathophysiology