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UnknownWhole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Aim

Late-onset Alzheimer's disease (LOAD) accounts for 95% of all Alzheimer's cases and is genetically complex in nature. Overlapping clinical and neuropathological features between AD, FTD and Parkinson's disease highlight the potential role of genetic pleiotropy across diseases. Recent gen...
S-EPMC6005734 | biostudies-literature
UnknownAssessing impact, needs and quality-of-life among informal carers of people with pancreatic cancer, a prospective study: the PAN-CARER study protocol.

Introduction

Approximately 10 300 people are diagnosed with pancreatic cancer each year in the UK. The cancer and its treatment inflict a significant physical, functional and emotional burden on patients. Research suggests that patients have many ongoing needs for support and care, but that ...
S-EPMC10186426 | biostudies-literature
UnknownMethylation Profiling RIN3 and MEF2C Identifies Epigenetic Marks Associated with Sporadic Early Onset Alzheimer's Disease.
A number of genetic loci associate with early onset Alzheimer's disease (EOAD); however, the drivers of this disease remains enigmatic. Genome wide association and in vivo modeling have shown that loss-of-function, e.g., ABCA7, reduced levels of SIRT1 and MEFF2C, or increased levels of PTK2β ...
S-EPMC6159661 | biostudies-literature
UnknownAlzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment.
Mild-cognitive impairment (MCI) occurs in up to one-fifth of individuals over the age of 65, with approximately a third of MCI individuals converting to dementia in later life. There is a growing necessity for early identification for those at risk of dementia as pathological processes begin decades...
S-EPMC6534556 | biostudies-literature
UnknownGenetic variability in response to amyloid beta deposition influences Alzheimer's disease risk.
Genome-wide association studies of late-onset Alzheimer's disease risk have previously identified genes primarily expressed in microglia that form a transcriptional network. Using transgenic mouse models of amyloid deposition, we previously showed that many of the mouse orthologues of these risk gen...
S-EPMC7145452 | biostudies-literature
UnknownOPM-MEG in multiple sclerosis: Proof of principle, and the effect of naturalistic posture.
Multiple Sclerosis (MS) is a common neurological disorder in which myelin damage affects neuronal signalling. Magnetoencephalography (MEG - the measurement of magnetic fields generated by neuronal currents) offers metrics of brain function that relate directly to electrophysiological signalling, mak...
S-EPMC12524172 | biostudies-literature
UnknownA genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
Recently, we reported oligoadenylate synthetase 1 (OAS1) contributed to the risk of Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia. However, the function of OAS1 within microglia was not known. Using genotyping from 1313 individuals with sporadic Alzheimer'...
S-EPMC8500089 | biostudies-literature
UnknownRelationship between Cardiopulmonary, Mitochondrial and Autonomic Nervous System Function Improvement after an Individualised Activity Programme upon Chronic Fatigue Syndrome Patients.

Background

The therapeutic effects of exercise from structured activity programmes have recently been questioned; as a result, this study examines the impact of an Individualised Activity Program (IAP) on the relationship with cardiovascular, mitochondrial and fatigue parameters.

Methods<...

S-EPMC8038762 | biostudies-literature
UnknownA rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.
Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally important variants. One of the so far identified genes wit...
S-EPMC7042727 | biostudies-literature
UnknownInflammatory bowel disease patient-reported quality assessment should drive service improvement: a national survey of UK IBD units and patients.

Background

Healthcare service provision in inflammatory bowel disease (IBD) is often designed to meet targets set by healthcare providers rather than those of patients. It is unclear whether this meets the needs of patients, as assessed by patients themselves.

Aims

To assess patients'...
S-EPMC9541797 | biostudies-literature
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