8 results
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
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... Most cases diagnosed ... collection with EDTA Pathophysiology ... mineralization Symptoms ... respiratory failure • Neurologic
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
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
of the clinical ... lateral sclerosis Pathophysiology ... cellular function Clinical ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs ... #management #neurology
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
transplantation CLINICAL ... complete paralysis of all ... than one after symptom ... the underlying pathophysiology ... #management #neurology