21 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Neonatology #Peds ... #Pediatrics #Table
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... 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 ... 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 ... management #cardiology #peds ... #pediatrics #treatment
Nuchal Rigidity in Infantile Bacterial Meningitis

Flexion of the neck revealed nuchal rigidity. The patient was unable
Nuchal Rigidity in Infantile ... From - Journal of Pediatrics ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics
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Nuchal Rigidity in Infantile Bacterial Meningitis

Flexion of the neck revealed nuchal rigidity. The patient was unable
Nuchal Rigidity in Infantile ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics
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Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... AorticValve #cardiology #peds ... #pediatrics
Lewy Body Dementia: Pathogenesis and Clinical Findings
Lewy Body Dementia is a sub-category of major or mild
Lewy Body Dementia ... Pathogenesis and Clinical ... Clinical manifestations ... #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... atrophy Lewy body dementia ... Frontotemporal dementia ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Infantile Hemangioma - 7 month old 
(L-R ) Admission /2 days post Propranolol/Debulk/ Resected (s/p dehiscence/
Infantile Hemangioma ... @PedPrac12 #Infantile ... Hemangioma #Resection #Clinical ... #Peds #Pediatrics