Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment.

Background: Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol accumulation. NPC1 is found in neuronal cell bodies, axon terminals and synaptosomes, suggesting it plays a role in lysosomal degradation pathway and in synaptic transmission.

Severity of dementia, anosognosia, and depression in relation to the quality of life of patients with Alzheimer disease: discrepancies between patients and caregivers.

Objective: To investigate the factors associated with discrepancies between patient and caregiver reports of the quality of life of patients (QoLp) with Alzheimer disease.

Methods: Cross-sectional analytic study of 141 patients and their caregivers. The instruments used were the Quality of Life in AD, the Global Deterioration Scale (GDS), the Geriatric Depression Scale, and the Anosognosia Questionnaire-Dementia.

Sleep-disordered breathing and acute stroke.

Background: Sleep-disordered breathing (SDB) is a disease of increasing importance and it is frequent in stroke patients. SDB is being recognized as an independent risk factor for several clinical consequences, including cardiovascular and cerebrovascular disease.

Methods: The present review summarizes the current evidence for an independent association between SDB and stroke, defining SDB subgroups, mechanisms, confounding factors and other epidemiological aspects.