3 results
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders (MNCD ... workup 1) Clinical ... workup What type of MNCD ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics