Simulation and annotation of global acronyms.

Motivation: Global acronyms are used in written text without their formal definitions. This makes it difficult to automatically interpret their sense as acronyms tend to be ambiguous. Supervised machine learning approaches to sense disambiguation require large training datasets.

[Neuroimaging for the diagnosis of dementia.].

Development of laboratory diagnosis and neuroimaging revealed some biomarkers for in vivo diagnosis of the most common forms of dementia (Alzheimer's disease, Lewy body dementia and vascular dementia) for their differential diagnosis. Structural changes found using magnetic resonance imaging (MRI) are significant for the prognosis of the cognitive decline. Cerebral microbleeds are an available adjuvant diagnostic marker, which increases the diagnostic value of leukoaraiosis that suggests the development of cerebral amyloid angiopathy or hypertensive microangiopathy, especially in cases of mixed causes of dementia and severe cognitive deficits.

The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.

Background: Wilson's disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contradictory. The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients.