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Contains fulltext : 238195.pdf (Publisher’s version ) (Open Access) MalariaGEN is a data-sharing network that enables groups around the world to work together on the genomic epidemiology of malaria. Here we describe a new release of curated genome variation data on 7,000 Plasmodium falciparum samples from MalariaGEN partner studies in 28 malaria-endemic countries. High-quality genotype calls on 3 million single nucleotide polymorphisms (SNPs) and short indels were produced using a standardised analysis pipeline. Copy number variants associated with drug resistance and structural variants that cause failure of rapid diagnostic tests were also analysed. Almost all samples showed genetic evidence of resistance to at least one antimalarial drug, and some samples from Southeast Asia carried markers of resistance to six commonly-used drugs. Genes expressed during the mosquito stage of the parasite life-cycle are prominent among loci that show strong geographic differentiation. By continuing to enlarge this open data resource we aim to facilitate research into the evolutionary processes affecting malaria control and to accelerate development of the surveillance toolkit required for malaria elimination.

Our manuscript aims to: 1) assess physical health in a sample of patients with severe mental disorders; and 2) identify the psychopathological and psychosocial characteristics associated with an increased likelihood of having a poor physical health. The study, funded by the Italian Ministry of Education, has been carried out in psychiatric outpatient units of six Italian University sites. All recruited patients have been assessed through standardized assessment instruments. Moreover, anthropometric parameters have been obtained at recruitment and a blood samples have been collected to assess cardiometabolic parameters. Four-hundred and two patients with a primary diagnosis of bipolar disorder (43.3%), schizophrenia or other psychotic disorder (29.9%), or major depression (26.9%) were recruited. Internalized stigma, psychosocial functioning, quality of life, psychiatric hospitalizations, depressive/anxiety and manic symptoms and cognition were those domains more strongly associated with poor metabolic parameters, including high body mass index, HOMA and Framingham indexes and waist circumference. There were no statistically significant differences among the three diagnostic groups. Our findings highlight the importance of perceived stigma and quality of life on patients’ physical health. This should be taken into account when developing plans for reducing the mortality rate in patients with severe mental disorders.

Mosquito control remains a central pillar of efforts to reduce malaria burden in sub-Saharan Africa. However, insecticide resistance is entrenched in malaria vector populations, and countries with a high malaria burden face a daunting challenge to sustain malaria control with a limited set of surveillance and intervention tools. Here we report on the second phase of a project to build an open resource of high-quality data on genome variation among natural populations of the major African malaria vector species Anopheles gambiae and Anopheles coluzzii. We analyzed whole genomes of 1142 individual mosquitoes sampled from the wild in 13 African countries, as well as a further 234 individuals comprising parents and progeny of 11 laboratory crosses. The data resource includes high-confidence single-nucleotide polymorphism (SNP) calls at 57 million variable sites, genome-wide copy number variation (CNV) calls, and haplotypes phased at biallelic SNPs. We use these data to analyze genetic population structure and characterize genetic diversity within and between populations. We illustrate the utility of these data by investigating species differences in isolation by distance, genetic variation within proposed gene drive target sequences, and patterns of resistance to pyrethroid insecticides. This data resource provides a foundation for developing new operational systems for molecular surveillance and for accelerating research and development of new vector control tools. It also provides a unique resource for the study of population genomics and evolutionary biology in eukaryotic species with high levels of genetic diversity under strong anthropogenic evolutionary pressures.

Background Despite several guidelines recommend the use of psychoeducational family interventions (PFIs) as add-on in the treatment of patients with bipolar I disorder, their implementation on a large scale remains limited. The aim of the present study is to identify obstacles for the feasibility of PFIs in routine care. Methods This was a multicentre, real-world, controlled, outpatient trial, carried out in 11 randomly recruited Italian mental health centres. Two mental health professionals from each center attended a modular training course on PFI and provided the intervention. Difficulties and benefits experienced by mental health professionals in implementing the intervention were assessed through the Family Intervention Schedule (FIS-R), which was administered six times. Results Sixteen out of the 22 recruited professionals completed the training and administered the PFI to 70 patients with bipolar I disorder and their relatives. The retention rate of families receiving the intervention was 93%. Mental health professionals reported high levels of organizational difficulties, several benefits in their daily clinical work and low levels of intervention-related difficulties. The most important organizational obstacles were related to the need to integrate the intervention with other work responsibilities and to the lack of time to carry out the intervention. These difficulties did not decrease over time. Intervention-related difficulties were rated as less problematic since the first time assessment and tended to improve over time. Limitations Low number of recruited professionals; use of a not previously validated assessment instrument. Conclusions PFIs are feasible in routine care for the treatment of patients with bipolar I disorder and their relatives, and main obstacles are related to the organization/structure of mental health centres, and not to the characteristics of the intervention itself.

Gaia Sampogna,1 Mario Luciano,1 Valeria Del Vecchio,1 Claudio Malangone,1,2 Corrado De Rosa,1 Vincenzo Giallonardo,1 Giuseppina Borriello,1 Benedetta Pocai,1 Micaela Savorani,1 Luca Steardo Jr,1 Debora Lampis,3 Franco Veltro,4 Francesco Bartoli,5 Francesco Bardicchia,6 Anna Maria Moroni,7 Giusy Ciampini,8 Emanuele Orlandi,9 Silvia Ferrari,10 Silvia Biondi,11 Sonia Iapichino,11,12 Enrico Pompili,13 Massimiliano Piselli,14 Alfonso Tortorella,15 Giuseppe Carrà,5,16 Andrea Fiorillo1 1Department of Psychiatry, University of Campania “Luigi Vanvitelli”, Naples, 2Mental Health Centre of Ravello, Mental Health Unit, Ravello, 3Mental Health Centre of Lanusei, Mental Health Unit, Lanusei, 4Mental Health Department of Campobasso, Campobasso, 5Department of Medicine and Surgery, University of Milano Bicocca, Monza, 6Mental Health Centre of Grosseto, Mental Health Unit, Grosseto, 7Niguarda Hospital, Department of Psychiatry, Milan, 8Mental Health Centre of Lanciano, Mental Health Unit, Lanciano, 9Mental Health Centre of Sassuolo, Mental Health Unit, Sassuolo, 10University of Modena and Reggio Emilia, Department of Psychiatry, Reggio Emilia, 11Mental Health Centre of Montecatini, Mental Health Unit, Montecatini, 12Auditor Psychiatrist, for the activities of Clinical Risk Management and safety of treatments, Tuscany Region, 13Mental Health Centre of Rome, Mental Health Unit, Rome, 14Mental Health Centre of Foligno, Mental Health Unit, Foligno, 15Department of Medicine, Section of Psychiatry, University of Perugia, Perugia, Italy; 16Division of Psychiatry, University College of London, London, UK Background: Psychoeducational family intervention (PFI) has been proven to be effective in improving the levels of family burden and patients’ personal functioning in schizophrenia and bipolar disorders (BDs). Less is known about the impact of PFI on relatives’ coping strategies in BD. Methods: A multicenter, controlled, outpatient trial funded by the Italian Ministry of Health and coordinated by the Department of Psychiatry of the University of Campania “Luigi Vanvitelli” has been conducted in patients with bipolar I disorder (BD-I) and their key relatives consecutively recruited in 11 randomly selected Italian community mental health centers. We aim to test the hypothesis that PFI improves problem-oriented coping strategies in relatives of BD-I patients compared to the Treatment As Usual (TAU) group. Results: The final sample was constituted of 123 patients and 139 relatives. At baseline assessment (T0), the vast majority of relatives already adopted problem-oriented coping strategies more frequently than the emotion-focused ones. At the end of the intervention, relatives receiving PFI reported a higher endorsement of adaptive coping strategies, such as “maintenance of social interests” (odds ratio [OR]=0.309, CI=0.04–0.57;p=0.023), “positive communication with the patient” (OR=0.295, CI=0.13–0.46;p=0.001), and “searching for information” (OR=0.443, CI=0.12–0.76;p=0.007), compared to TAU relatives, after controlling for several confounders. As regards the emotion-focused coping strategies, relatives receiving the experimental intervention less frequently reported to adopt “resignation” (OR=-0.380, CI=-0.68 to -0.08; p=0.014) and “coercion” (OR=-0.268, CI=-0.46 to -0.08;p=0.006) strategies, compared to TAU relatives. Conclusion: PFI is effective in improving the adaptive coping strategies of relatives of BD-I patients, but further studies are needed for evaluating the long-term benefits of this intervention. Keywords: coping strategies, family burden, psychoeducation family intervention, bipolar disorder, social functioning

Background This study assessed the efficacy of the Falloon model of psychoeducational family intervention (PFI), originally developed for schizophrenia management and adapted to bipolar I disorder. The efficacy of the intervention was evaluated in terms of improvement of patients׳ social functioning and reduction of family burden. Methods This was a multicentre, real-world, controlled, outpatient trial carried out in 11 randomly recruited Italian mental health centres. Enroled patients and key-relatives were consecutively allocated either to receive PFI and Treatment As Usual (TAU) or to a waiting list receiving TAU alone. The efficacy of the intervention was evaluated in terms of improvement in patients׳ social functioning (primary outcome) and reduction of family burden (secondary outcome). Results Of the 137 recruited families, 70 were allocated to the experimental group and 67 to the control group. At the end of the intervention, significant improvements in patients׳ social functioning and in relatives׳ burden were found in the treated group compared to TAU. This effect of the intervention remained also after controlling for several confounding patient׳s socio-demographic and clinical factors. The experimental intervention had an impact also on other outcome measures, such as patients׳ clinical status and personal burden. Limitations Lack of an active control group. Conclusions The results of this study clearly show that the psychoeducational family intervention according to the Falloon model is effective in improving the social outcome of patients with bipolar I disorder.

Patients with severe mental disorders die on average 20 years prior to the general population. This mortality gap is mainly due to the higher prevalence of physical diseases and the adoption of unhealthy lifestyle behaviors.The LIFESTYLE trial aims to evaluate the efficacy of a new psychosocial group intervention (including psychoeducational, motivational, and problem-solving techniques) focused on healthy lifestyle behavior compared to a brief educational group intervention in a community sample of patients with severe mental disorders. The trial is a national-funded, multicentric, randomized controlled trial with blinded outcome assessments, which is carried out in six outpatient units of the Universities of Campania “Luigi Vanvitelli” in Naples, Bari, Genova, L'Aquila, Pisa, and Rome—Tor Vergata. All patients are assessed at the following time points: baseline (T0); 2 months post-randomization (T1); 4 months post-randomization (T2); 6 months post-randomization (T3); 12 months post-randomization (T4); and 24 months post-randomization (T5). T1 and T2 assessments include only anthropometric tests. The BMI, a reliable and feasible anthropometric parameter, has been selected as primary outcome. In particular, the mean value of BMI at 6 months from baseline (T3) will be evaluated through a Generalized Estimated Equation model. The work hypothesis is that the LIFESTYLE psychosocial group intervention will be more effective than the brief educational group intervention in reducing the BMI. We expect a mean difference between the two groups of at least one point (and standard deviation of two points) at BMI. Secondary outcomes are: the improvement in dietary patterns, in smoking habits, in sleeping habits, physical activity, personal and social functioning, severity of physical comorbidities, and adherence to medications. The expected sample size consists of 420 patients (70 patients for each of the six participating centers), and they are allocated with a 1:1 ratio randomization, stratified according to center, age, gender, and educational level. Heavy smoking, sedentary behavior, and unhealthy diet pattern are very frequent and are associated with a reduced life expectancy and higher levels of physical comorbidities in people with severe mental disorders. New interventions are needed and we hope that the LIFESTYLE protocol will help to fill this gap.Trial registration number: 2015C7374S.

Similarity between two individuals in the combination of genetic markers along their chromosomes indicates shared ancestry and can be used to identify historical connections between different population groups due to admixture. We use a genome-wide, haplotype-based, analysis to characterise the structure of genetic diversity and gene-flow in a collection of 48 sub-Saharan African groups. We show that coastal populations experienced an influx of Eurasian haplotypes over the last 7000 years, and that Eastern and Southern Niger-Congo speaking groups share ancestry with Central West Africans as a result of recent population expansions. In fact, most sub-Saharan populations share ancestry with groups from outside of their current geographic region as a result of gene-flow within the last 4000 years. Our in-depth analysis provides insight into haplotype sharing across different ethno-linguistic groups and the recent movement of alleles into new environments, both of which are relevant to studies of genetic epidemiology. DOI: http://dx.doi.org/10.7554/eLife.15266.001, eLife digest Our genomes contain a record of historical events. This is because when groups of people are separated for generations, the DNA sequence in the two groups’ genomes will change in different ways. Looking at the differences in the genomes of people from the same population can help researchers to understand and reconstruct the historical interactions that brought their ancestors together. The mixing of two populations that were previously separate is known as admixture. Africa as a continent has few written records of its history. This means that it is somewhat unknown which important movements of people in the past generated the populations found in modern-day Africa. Busby et al. have now attempted to use DNA to look into this and reconstruct the last 4000 years of genetic history in African populations. As has been shown in other regions of the world, the new analysis showed that all African populations are the result of historical admixture events. However, Busby et al. could characterize these events to unprecedented level of detail. For example, multiple ethnic groups from The Gambia and Mali all show signs of sharing the same set of ancestors from West Africa, Europe and Asia who mixed around 2000 years ago. Evidence of a migration of people from Central West Africa, known as the Bantu expansion, could also be detected, and was shown to carry genes to the south and east. An important next step will be to now look at the consequences of the observed gene-flow, and ask if it has contributed to spreading beneficial, or detrimental, mutations around Africa. DOI: http://dx.doi.org/10.7554/eLife.15266.002