8 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Algorithm for the Evaluation and Management of Suspected Congenital Heart Disease in Neonates

Neonates with undiagnosed congenital
Algorithm for the ... Evaluation and Management ... with nonspecific symptoms ... Neonates #Neonatal #Peds ... #Pediatrics #Cardiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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features of Liver Disease ... #LiverFailure #Signs ... #Symptoms #PhysicalExam ... Findings #Diagnosis #Peds ... #Pediatrics #Hepatology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
an underlying genetic ... age, however the disease ... Diagnosis: HLH signs ... and symptoms can ... Lymphohistiocytosis #diagnosis #management
Polycythemia Vera (PV) - Diagnosis and Management Summary
Diagnostic Criteria:
 • Elevated hemoglobin and/or hematocrit AND
 •
Diagnosis and Management ... , signs, and complications ... • Treatment algorithms ... von Willebrand disease ... PV #Diagnosis #Management
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Males=Females SIGNS ... /SYMPTOMS: • Acute ... steroids for severe disease ... Pneumonia #diagnosis #management