11 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... complex storage diseases ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Pathogenesis and clinical ... #Peds #pathophysiology ... #symptoms #pharmacology ... #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... endocrinology #peds ... #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... LiverFailure #Signs #Symptoms ... PhysicalExam #Findings #Diagnosis ... #Peds #Pediatrics
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
incomplete Kawasaki Disease ... if they have no clinical ... #Diagnosis #Peds ... #Pediatrics #Kawasaki ... #Algorithm
Alkaptonuria (Black Urine Disease)
Urine turns dark when left standing due to oxidation of homogentisic acid 
Clinical
Alkaptonuria (Black Urine Disease ... homogentisic acid Clinical ... Alkaptonuria #BlackUrine #Peds ... #Pediatrics #Diagnosis ... #Pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs