123 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
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
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 ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... cardiology #peds #pediatrics
Causes of Unprovoked Pediatric Seizures -  Epilepsy Syndromes - Differential Diagnosis Algorithm 
Infantile:
 • Benign
of Unprovoked Pediatric ... - Differential Diagnosis ... • Dravet Syndrome ... #Differential #Diagnosis ... #Causes #Peds #Pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... neck swelling #Pediatrics ... #coronavirus #diagnosis ... #Signs #Symptoms
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
Causes of Pediatric Diarrhea - Differential Diagnosis Algorithm
Infectious:
 • Viral
 • Bacterial
 • Parasitic
Malabsorption:
 • Lactase
Causes of Pediatric ... - Differential Diagnosis ... • Short Bowel Syndrome ... Irritable Bowel Syndrome ... #Causes #Peds #Pediatrics