29 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
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
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... #Kawasaki #Disease ... #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Algorithm for the Evaluation and Management of Suspected Congenital Heart Disease in Neonates

Neonates with undiagnosed congenital
Evaluation and Management ... Congenital Heart Disease ... with nonspecific symptoms ... Neonates #Neonatal #Peds ... #Pediatrics #Cardiology
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Pre-Operative Management ... #cardiology #peds ... #pediatrics #summary
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
PECARN Head CT Decision Aid

The Head CT Choice decision aid was developed in Rochester, Minnesota. Full
observation, and signs ... and symptoms that ... (Figure 2) #Management ... #PatientInfo #Peds ... #Pediatrics #DecisionAid
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