36 results
diagnosis symptoms management pediatrics differential neurology treatment algorithm clinical complications ophthalmology table cardiology endocrinology hematology icu iem inbornerrors manifestations metabolism
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... presentations in acute ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
CREST Syndrome: Pathogenesis and Clinical Findings CALCINOSIS (BB-sized, hard nodules in fingers) RAYNAUD'S Phenomenon ESOPHAGEAL DYSMOTILITY SCLERODACTYLY (thickening and tightening
CREST Syndrome: ... In face, hands distal ... MTPs) #CREST #Syndrome ... #Pathophysiology ... #Diagnosis #Signs
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
for diagnosing acute ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
Mucocutaneous Lymph Node Syndrome ... rare systemic acute ... febrile vasculitic syndrome ... Disease #Features #Signs ... Symptoms #Diagnosis #Peds
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Mechanical (e.g. dental ... Algorithm #Causes #Peds
Systemic Lupus Erythematosus: Gastrointestinal Manifestations - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Vasculitis -> Acute ... - Budd Chiari Syndrome ... Complications #pathophysiology ... #signs #symptoms
Acute Spinal Cord Injuries: Pathogenesis and clinical findings • Anterior Cord Syndrome -> Anterior spinal artery
Acute Spinal Cord ... Anterior Cord Syndrome ... weakness and #Acute ... #diagnosis #pathophysiology ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... • Rizutti's Sign ... #Keratoconus #pathophysiology
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