7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
and workup ... 1) Clinical diagnosis ... neuropsychological assessment ... Aphaso-apraxo-agnosia syndrome ... #Diagnosis #Geriatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Pathophysiology ... Clinical Manifestations ... antibody that works ... poisoning, Parkinson's disease ... Baclofen • Severe Disease
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... PRES-Associated Clinical ... Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Seizures: Treat with AEDs
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
Helpful Clinical Features in Evaluating Bleeding Disorders
Age of onset
 • Neonate - in 20% of haemophilias,
Helpful Clinical ... von Willebrand disease ... Marfan syndrome, ... Disorders #History #peds ... #pediatrics #diagnosis