29 results
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
Acute Otitis Media: Complications
Infection and inflammation of the middle ear
 - Prolonged obstruction of e. tube
Acute Otitis Media ... middle ear - Distal ... becomes more severe Signs ... #pathophysiology ... #symptoms #signs
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
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
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Vasculitis -> Acute ... Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
rare systemic acute ... lethal cardiac complications ... Disease #Features #Signs ... Symptoms #Diagnosis #Peds
Anaphylaxis: Signs and Symptoms
Anaphylaxis: when any egg of three conditions is met:
1. Acute onset of skin/mucosal
Anaphylaxis: Signs ... Acute onset of skin ... symptoms in the acute ... / Symptoms / Complications ... #Anaphylaxis #pathophysiology
Acute Rheumatic Fever: Pathogenesis and Clinical Findings

Delayed autoimmune reaction
-> Molecular mimicry
-> GAS antigen cross-reacts with host
->
Acute Rheumatic ... , Carditis #Acute ... RheumaticFever #pathophysiology ... #diagnosis #signs ... #symptoms #complications
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
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... / Symptoms / Complications ... - Decreased visual ... Retinoblastoma #pathophysiology ... ophthalmology #diagnosis #signs