11 results
diagnosis management pediatrics peds iem inbornerrors metabolism neonatology neurology nicu signs table acute agammaglobulinemia barre bowel differential fever gastroenterology gbs
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... metabolism, excluding complex ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
of lab values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #PraderWilli #Syndrome ... #genetics #pathophysiology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings • Anterior Cord Syndrome -> Anterior spinal artery
vascular event -> Complete ... > Often mimics complete ... -> Complete hemicord ... #diagnosis #pathophysiology ... #signs #symptoms
Irritable Bowel Syndrome (IBS) - Pathophysiology, Diagnosis and Management Algorithm Risk factors: Previous acute enteric infection, Female
(IBS) - Pathophysiology ... and Management Algorithm ... factors affecting symptom ... #Pathophysiology ... Diagnosis #Management #Algorithm
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... adhesion of IgA complexes ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #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 ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Genetic Predisposition ... antibodies) -> Complete ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
Guillain-Barré Syndrome ... walking to nearly complete ... than one after symptom ... the underlying pathophysiology ... Guillain #Barre #Syndrome
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... reporting such symptoms ... tender • Other symptoms ... several other symptoms ... neutropenia (CyN) This genetic
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