Participatory capacities and vulnerabilities assessment: Towards the realisation of community-based early warning system for deep-seated landslides

Existing frameworks of community-based early warning systems (CBEWS) lack focus on its actual implementation. Furthermore, they do not describe how a top-down early warning system (EWS) can be transformed into a CBEWS. Hence, to support the establishment of a community-based early warning system for deep-seated landslides (CBEWS-L), this study aimed to assess the capacities and vulnerabilities of five barangays in the Philippines. The CBEWS-L to be established is envisioned to be information and communication technology (ICT)-based. An ICT4D perspective was therefore taken in conducting this participatory study. Stakeholder mapping, focus group discussions and key informant interviews were used to gather data. Validation was also done through triangulation and post-analysis consultations. The results showed that there are varying sets of capacities and vulnerabilities existing in each community. Moreover, ICT capacities are lacking and are outnumbered by vulnerabilities. Yet, site-specific action points to enhance capacities and resolve vulnerabilities were determined. Still, overall strategies were not uncovered. Furthermore, compounding the capacities and vulnerabilities in each site are indirect factors which, if examined thoroughly, may lead to more complex socio-political issues. It is therefore recommended that in establishing a CBEWS, a comprehensive community risk assessment is first conducted to exhaust all possible action points that can be used in formulating site-specific strategies. Moreover, development of technological solutions must be modular to allow flexibility in accommodating complex community capacities and vulnerabilities

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Paléoenvironnements tardiglaciaires et holocènes de l'Orléanais (Loiret). Les sites de Saint-Benoît-sur-Loire et de la vallée des Mauves à Meung-sur-Loire

International audienc

Leprosy in individuals unearthed near the Ermida de Santo André and Leprosarium of Beja, Portugal

Documentary sources refer to leprosy patients in the Portuguese territory since the first century AD, and in the Middle Ages around 70 leprosaria were established. However, prior to 2003 this historical evidence had not been confirmed by archeological findings. The excavation performed in monitoring the rehabilitation done by the Polis program in the area of the Ermida de Santo André (hermitage of Saint Andrew) allowed the exhumation of seven human skeletons, and commingled bones from at least three individuals, in the vicinity of the Beja leprosarium. The objective of this study is to present the paleopathological lesions relevant to the discussion of the differential diagnosis of leprosy. Macroscopic observation of the bones and scrutiny of lesions according to the paleopathological literature allowed the identification of a probable case of leprosy in an adult male, showing rhinomaxillary changes and concentric remodeling of hand and foot bones, and four possible cases (two young adults and two adults, all probably males), with a set of lesions in facial bones and skeletal extremities. The poor preservation of the bones precluded further confirmation of this diagnosis. According to historical data, the leprosaria functioned between the 14th and 16th centuries AD. The exact chronology of these findings was not determined either during the excavation or by radiocarbon dating because the bones presented poor collagen levels. In Portugal as a whole there are few osteological evidences of leprosy, and thus this study adds new information about this chronic infectious disease.Grant sponsorship: FCT doctoral grant with reference SFRH/BD/70158/2010 (N.A.F.) and FCT post-doctoral grant with reference SFRH/ BPD/70466/2010 (V.M.J.M.)

Physical activities, sleep-wake rhythms quality of life of the elderly living at home

International audienc

Transport, motility, biofilm forming potential and survival of Bacillus subtilis exposed to cold temperature and freeze-thaw.

In cold climate regions, microorganisms in upper layers of soil are subject to low temperatures and repeated freeze-thaw (FT) conditions during the winter. We studied the effects of cold temperature and FT cycles on the viability and survival strategies (namely motility and biofilm formation) of the common soil bacterium and model pathogen Bacillus subtilis. We also examined the effect of FT on the transport behavior of B. subtilis at two solution ionic strengths (IS: 10 and 100 mM) in quartz sand packed columns. [...] Moreover, column transport studies showed higher bacterial retention onto sand grains after exposure to FT. This investigation demonstrates how temperature variations around the freezing point in upper layers of soil can influence key bacterial properties and behavior, including survival and subsequent transport

Psychosocial and Health-Related Factors Associated With Discordance Between 13-Year Trajectories of Self-Reported Functional Limitations and Performance-Based Physical Functioning in Old Age

Objective: The objective of this study was to examine correlates of discordance between 13-year trajectories of self-reported functional limitations and performance-based physical functioning in older adults. Method: We included 2,135 participants from the population-based Longitudinal Aging Study Amsterdam, the Netherlands, followed across 1995-2008. Self-reported functional limitations included six (instrumental) activities of daily living. Performance-based functioning was a composite of four tests. We used latent class growth analysis and multinomial logistic regression to examine discordance and its correlates. Results: Patterns of discordance and concordance (41% concordance, 46% “overestimation” of daily functioning, 13% “underestimation”) appeared to be persistent over 13 years. Older age, male sex, cognitive impairment, absence of pain, and light alcohol use were associated with overestimation. Younger age, female sex, and lower self-rated health were associated with underestimation. Discussion: Factors associated with overestimation partly differ from those associated with underestimation. Factors that are highly stable over time are particularly good indicators of persistent discordance