Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

The Parkinson's Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor symptom onset ≤45 years and/or a family history of PD in up to third-degree relatives. Where possible, we also recruited affected and unaffected relatives.

HLA-E and NKG2A Mediate Resistance to BCG Immunotherapy in Non-Muscle-Invasive Bladder Cancer.

Bacillus Calmette-Guerin (BCG) is the primary treatment for non-muscle-invasive bladder cancer (NMIBC), known to stimulate inflammatory cytokines, notably interferon (IFN)-γ. We observed that prolonged IFN-γ exposure fosters adaptive resistance in recurrent tumors, aiding immune evasion and tumor proliferation. We identify HLA-E and NKG2A, part of a novel NK and T cell checkpoint pathway, as key mediators of resistance in BCG-unresponsive NMIBC.

Combining ranger records and biogeographical models to identify the current and potential distribution of an expanding mesocarnivore in southern Europe.

Human-wildlife conflicts (HWC) are increasing and are potentially harmful to both people and wildlife. Understanding the current and potential distribution of wildlife species involved in HWC, such as carnivores, is essential for implementing management and conservation measures for such species. In this study, we assessed both the current distribution and potential distribution (forecast) of the Egyptian mongoose (Herpestes ichneumon) in the central part of the Iberian Peninsula.

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Background: Parkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play a part. The RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. We aimed to explore genetic variability in RAB GTPases within cases of familial Parkinson's disease.

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.

A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.

Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with a notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as a subset are both regulators and substrates of LRRK2 protein kinase. To explore the role of RAB GTPases in PD, we undertook a comprehensive examination of their genetic variability in familial PD.

Using fuzzy logic to compare species distribution models developed on the basis of expert knowledge and sampling records : Expert knowledge versus sampling in species distribution modelling.

Background: Experts use knowledge to infer the distribution of species based on fuzzy logical assumptions about the relationship between species and the environment. Thus, expert knowledge is amenable to fuzzy logic modelling, which give to propositions a continuous truth value between 0 and 1. In species distribution modelling, fuzzy logic may also be used to model, from a number of records, the degree to which conditions are favourable to the occurrence of a species.

West Nile virus in the Iberian Peninsula: using equine cases to identify high-risk areas for humans.

BackgroundWest Nile virus (WNV) is a flavivirus with an enzootic cycle between birds and mosquitoes; humans and horses are incidental dead-end hosts. In 2020, the largest outbreak of West Nile virus infection in the Iberian Peninsula occurred, with 141 clusters in horses and 77 human cases.AimWe analysed which drivers influence spillover from the cycle to humans and equines and identified areas at risk for WNV transmission.

Maker communities and the COVID-19 pandemic: a longitudinal analysis of Thingiverse's response to supply shortages.

The COVID-19 pandemic profoundly affected various aspects of daily life, particularly the supply and demand of essential goods, resulting in critical shortages. This included personal protective equipment for medical professionals and the general public. To address these shortages, online 'maker communities' emerged, aiming to develop and locally manufacture critical products.

Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.

The genetic basis of levodopa-induced-dyskinesia (LiD) is poorly understood, and there have been few well-powered genome-wide studies. We performed a genome-wide survival meta-analyses to study the effect of genetic variation on the development of LiD in five separate longitudinal cohorts, and meta-analysed the results. We included 2784 PD patients, of whom 14.

Genome-wide Analysis of Motor Progression in Parkinson Disease.

Background And Objectives: The genetic basis of Parkinson disease (PD) motor progression is largely unknown. Previous studies of the genetics of PD progression have included small cohorts and shown a limited overlap with genetic PD risk factors from case-control studies. Here, we have studied genomic variation associated with PD motor severity and early-stage progression in large longitudinal cohorts to help to define the biology of PD progression and potential new drug targets.

Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease.

Importance: Forty percent of Parkinson's disease patients develop levodopa-induced-dyskinesia (LiD) within 4 years of starting levodopa. The genetic basis of LiD remains poorly understood, and there have been few well powered studies.

Objective: To discover common genetic variants in the PD population that increase the probability of developing LiD.

Gone (and spread) with the birds: Can chorotype analysis highlight the spread of West Nile virus within the Afro-Palaearctic flyway?

West Nile virus (WNV) is a globally significant vector-borne disease that is primarily transmitted between birds and mosquitoes. Recently, there has been an increase in WNV in southern Europe, with new cases reported in more northern regions. Bird migration plays a crucial role in the introduction of WNV in distant areas.

Southern Europe is becoming climatically favourable for African birds: anticipating the establishment of a new species.

Background: The current modification of species distribution ranges, as a response to a warmer climate, constitutes an interesting line of work and a recent challenge for biogeography. This study aimed to determine if the climatic conditions of southern Europe are adequate to host a typical African species, the House Bunting, which is registered regularly during the last years, still in low numbers. To this end, the distribution of the species in its native range was modelled, both in the present and in future climate scenarios, using its current breeding distribution areas and a set of environmental variables.

Creating the Pick's disease International Consortium: Association study of H2 haplotype with risk of Pick's disease.

Background: Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal and temporal brain lobes. PiD is characterised by the presence of Pick bodies which are formed from aggregated, hyperphosphorylated, 3-repeat tau proteins, encoded by the gene.