12 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
Lewy Body Dementia: Pathogenesis and Clinical Findings
Lewy Body Dementia is a sub-category of major or mild
Pathogenesis and Clinical ... Clinical manifestations ... (required for diagnosis ... #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... workup 1) Clinical ... diagnosis Cognitive ... Aphaso-apraxo-agnosia syndrome ... #Geriatrics #Workup
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis
Myositis Specific Antibodies (MSAs)

Dermatomyositis: MDA5, TIF1y, NXP2, Mi-2, SAE
Anti-Synthetase Syndrome: Jo-1, PL7, PL12, EJ, OJ
Immune Mediated
Anti-Synthetase Syndrome ... Antibodies #MSAs #clinical ... #diagnosis #rheumatology ... #table
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Demyelinating Syndrome ... Disease, PRES Pathophysiology ... permeability Diagnosis ... CNS #neurology #rheumatology
TRALI vs TACO - Transfusion Reactions
TRALI:
 • Epidemiology: 0.1% of transfused patientsl
 • Risk factors: Critical
Risk factors: Critical ... blood donor • Pathophysiology ... transfusion • Pathophysiology ... #diagnosis #comparison ... #table
Alexia Without Agraphia
Alexia without agraphia is a disconnection syndrome where patients cannot read but can write.
disconnection syndrome ... Pathophysiology: ... angular gyrus Clinical ... #neurology #diagnosis ... #pathophysiology
HIV-Associated Neurocognitive Disorder (HAND)

Definition:
HIV-Associated Neurocognitive disorders categories:
• Asymptomatic neurocognitive impairment
• Mild neurocognitive impairment
• HIV dementia

Pathophysiology:
HIV frequently
impairment • HIV dementia ... Pathophysiology ... Diagnosis: MRI ... : The clinical ... syndrome of HAD
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... survival is 93-95% Pathophysiology ... renal failure Clinical ... at the time of diagnosis ... Self-limiting, chronic but stable