5 results
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs ... Complications: • Deficit ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
atrophy Lewy body dementia ... (parkinsonian signs ... Frontotemporal dementia ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Attention Deficit Hyperactive Disorder (ADHD): Pathogenesis and clinical findings
 - For diagnosis, must have either 26
Attention Deficit ... Hyperactive Disorder (ADHD ... with inattentive ADHD ... BehavioralDisorder #Pathophysiology ... diagnosis #symptoms #signs
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