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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.

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.

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.

This study compares the social network of a sample of 709 relatives of patients with schizophrenia, 646 relatives of patients with physical diseases, and 714 lay respondents, recruited in 30 randomly selected Italian areas, stratified for geographic location and population density. Each respondent was asked to fill in the Social Network Questionnaire. The social network was less extended and supportive in relatives of patients with schizophrenia than in those of patients with physical diseases and in the general population. Multivariate analyses revealed that social contacts were similarly reduced in relatives of patients with schizophrenia and physical diseases, while social support was significantly lower in relatives of patients with schizophrenia than in the other two groups. Social resources were higher in young respondents and in those living in rural areas. These results highlight the need to provide the families of those with long-term diseases with interventions aimed at increasing their social resources.

OBJECTIVES: This study aims to: (a) describe the type and doses of psychotropic drugs received by outpatients with schizophrenia in Italy; (b) explore the relationship between prescription and patients' clinical conditions, disability and socio-demographic characteristics; and (c) estimate the percentage of patients receiving polypharmacy and antipsychotics within the official recommended ranges. METHODS: A total of 682 patients with schizophrenia were consecutively recruited in 30 Italian mental health departments, randomly selected taking into account the geographic location and population density of their catchment areas. RESULTS: Of the sample, 98% were in treatment with neuroleptics, 47% received benzodiazepines, 25% were on anticholinergics, 10% were prescribed antidepressants and 8% were on mood stabilisers. Polypharmacy was found in 29% of the sample. Patients treated with one neuroleptic received this within therapeutic doses in 77% of cases. In patients who received two neuroleptics (24%), the former was prescribed within the official range in 71% of cases and the latter in 46%. Polytherapy was more frequently prescribed in patients treated with typicals (60% versus 34%) and in those who also received benzodiazepines (61% versus 41%) and anticholinergics (44% versus 16%). Patients in treatment with atypicals (45%) were mainly younger and lived in highly populated areas. Depot medications (25%) were more frequently prescribed to patients living in areas of low population density, who were older and who had a lower educational level, a longer duration of illness and milder anxiety/depression symptoms. CONCLUSIONS: The consistent percentage of patients receiving polypharmacy and neuroleptics outside the therapeutic doses highlights the need to promote interventions aimed at increasing a rational use of psychotropic drugs among mental health professionals.

BACKGROUND: The belief that mental disorders involve a high risk of unpredictable behaviours is a factor which influences negatively the social acceptance of the mentally ill. In this paper, we compare the beliefs about the causes and psychosocial consequences of schizophrenia expressed by 536 respondents who had the firm conviction that patients with schizophrenia are unpredictable and by 457 respondents who firmly believed that they are not. METHODS: The survey was conducted in 30 Italian geographic areas, randomly selected taking into account their location and population density. The data were collected by the Questionnaire about Opinions on Mental Illness (QO). RESULTS: Respondents who believed that patients with schizophrenia are unpredictable reported more frequently factors such as use of alcohol and drugs and frequenting bad company as being involved in the development of the disorder. In addition, this group showed more restrictive opinions about patients' civil and affective rights. Low education was found to be significantly associated with perception of "unpredictability" in schizophrenia. CONCLUSIONS: These results suggest the need to: a). inform the general public on the main clinical characteristics of schizophrenia and on the risk of unpredictable behaviours in the acute phases of this mental disorder; b). carry out sensitisation campaigns against discrimination toward people with schizophrenia emphasising successful experiences of social integration.

Objectives: This study, funded by the Italian Ministry of Health and coordinated by the Department of Psychiatry of the University of Naples SUN, aims to: 1) promote the use of a structured family psychoeducational intervention in patients with bipolar I disorder and their families in Italian mental health centres; 2) assess its implementation in routine care; c) evaluate its effects on psychopathological status and social functioning of patients and their relatives. Methods: This study included the following phases: 1) random selection of 11 Italian mental health centres; 2) development of informative materials and of assessment instruments; 3) training of 2 mental health workers per centre; 4) selection of 8 families of patients with bipolar I disorder for each centre and administration of family psychoeducational intervention. The difficulties and benefits encountered by professionals in implementing the intervention were registered on the Family Intervention Schedule (FIS), a 46-item self-report instrument collecting information on: 1) number of families to whom the intervention was proposed; 2) clinical and organisational difficulties experienced by the staff in the provision of the intervention; 3) advantages reported by the staff. Results: The intervention has been proposed to 79 patients and their relatives. Six of them did not accept it, further 9 families left the study after receiving the informative packages. Mental health workers reported several advantages in the conduction of the intervention, in particular, improvement of their professional skills and job satisfaction, which tend to increase over time. The most frequent difficulties in implementing the intervention are the integration of family work with other responsibilities and the allowance of time to perform the intervention. These difficulties are already high at the end of the training course and tend to be stable over time. Conclusions: The results of this study suggest that family psychoeducational interventions are feasible in routine settings of Italian mental health centres for the treatment of bipolar I disorder. However, in order to facilitate the dissemination of this intervention on a large scale, organisational changes are needed.

SummaryAims – To explore: a) the burden of care, and the professional and social support in relatives of patients with bipolar disorders; b) the psychosocial interventions provided to patients and their families by Italian mental health centres. Methods – 342 outpatients with a bipolar disorder and their key-relatives were randomly recruited in 26 Italian mental health centres, randomly selected and stratified by geographical area and population density. Family burden was explored in relation to: a) patient's clinical status and disability; b) relatives’ social and professional support; c) interventions received by patients and their families; d) geographical area. Results – In the previous two months, global functioning was moderately impaired in 36% of the patients, and severely impaired in 34% of them. Twenty-one percent of patients attended a rehabilitative programme, and 3% of their families received a psychoeducational intervention. Burden was higher when patient's symptoms and disability were more severe, the relatives had poorer psychological support and help in emergencies by the social network, and the family lived in Southern Italy. Differences in family burden in relation to geographical area disappeared when psychosocial interventions were provided. Conclusion – This study highlights the need to increase the availability of rehabilitative interventions for patients with bipolar disorders and of psychological support for their families, especially in Southern Italy.

BACKGROUND: Drug resistance remains a chief concern for malaria control. In order to determine the genetic markers of drug resistant parasites, we tested the genome-wide associations (GWA) of sequence-based genotypes from 35 Kenyan P. falciparum parasites with the activities of 22 antimalarial drugs. METHODS AND PRINCIPAL FINDINGS: Parasites isolated from children with acute febrile malaria were adapted to culture, and sensitivity was determined by in vitro growth in the presence of anti-malarial drugs. Parasites were genotyped using whole genome sequencing techniques. Associations between 6250 single nucleotide polymorphisms (SNPs) and resistance to individual anti-malarial agents were determined, with false discovery rate adjustment for multiple hypothesis testing. We identified expected associations in the pfcrt region with chloroquine (CQ) activity, and other novel loci associated with amodiaquine, quinazoline, and quinine activities. Signals for CQ and primaquine (PQ) overlap in and around pfcrt, and interestingly the phenotypes are inversely related for these two drugs. We catalog the variation in dhfr, dhps, mdr1, nhe, and crt, including novel SNPs, and confirm the presence of a dhfr-164L quadruple mutant in coastal Kenya. Mutations implicated in sulfadoxine-pyrimethamine resistance are at or near fixation in this sample set. CONCLUSIONS/SIGNIFICANCE: Sequence-based GWA studies are powerful tools for phenotypic association tests. Using this approach on falciparum parasites from coastal Kenya we identified known and previously unreported genes associated with phenotypic resistance to anti-malarial drugs, and observe in high-resolution haplotype visualizations a possible signature of an inverse selective relationship between CQ and PQ.

OBJECTIVE: This study explored the effectiveness of a psychoeducational family intervention for schizophrenia on patients' personal and social functioning as well as on relatives' burden and perceived support. METHODS: Thirty-four mental health professionals from 17 public mental health centers in Italy selected 71 families of consumers with schizophrenia. Forty-two families were randomly assigned to a group that received the intervention for six months, and 29 families were assigned to a waiting list for six months. At baseline and six months later, validated tools were used to assess patients' clinical status, personal and social functioning, and social network as well as relatives' burden, social resources, and perception of professional support. RESULTS: In the intervention group the number of patients with poor or very poor global personal and social functioning decreased significantly, from 17 (47 percent) at baseline to nine (25 percent) at follow-up. A significant improvement was found for the intervention group in patients' social relationships, interests in obtaining a job, maintenance of social interests, and management of social conflicts. Twenty-seven patients (74 percent) reported that their social relationships had improved during the six-month period. For both the intervention and control groups, family burden significantly improved. Relatives' social contacts and perception of professional support significantly increased only in the intervention group. CONCLUSIONS: The results suggest that a psychoeducational family intervention may have a significant impact on functional outcomes of schizophrenia when provided to patients and caregivers in real-world settings.

This study explored burden and social networks in families of patients with schizophrenia or a long-term physical disease. It was carried out in 169 specialised units (mental health department, and units for the treatment of chronic heart, brain, diabetes, kidney, lung diseases) recruited in 30 randomly selected geographic areas of Italy. The study sample consisted of 709 key relatives of patients with a DSM-IV diagnosis of schizophrenia and 646 key relatives of patients with physical diseases. Each relative was asked to fill in the Family Problems Questionnaire (FPQ) and the Social Network Questionnaire (SNQ). In all selected pathologies, the consequences of caregiving most frequently reported as always present in the past 2 months were constraints in social activities, negative effects on family life, and a feeling of loss. Objective burden was higher in brain diseases, and subjective burden was higher in schizophrenia and brain diseases than in the other groups. Social support and help in emergencies concerning the patient were dramatically lower among relatives of patients with schizophrenia than among those of patients with physical diseases. In the schizophrenia group, both objective and subjective burden were significantly higher among relatives who reported lower support from their social network and professionals. The results of this study highlight the need to provide the families of those with long-term diseases with supportive interventions, including: (a) the management of relatives' psychological reactions to patient's illness; (b) the provision of information on the nature, course and outcome of patient's disease; (c) training for the relatives in the management of the patient's symptoms; and (d) the reinforcement of relatives' social networks, especially in the case of schizophrenia.

AIMS: To describe in a sample of 646 relatives of patients with physical long-term illnesses: a) the relatives' burden of care; b) the relatives' attitudes towards the patients; c) the social and professional support received by the families. METHODS: The study has been carried out in 30 Italian geographic areas randomly selected taking into account geographic location and population density. The sample has been consecutively recruited in 139 specialised units for the treatment of chronic heart, brain, diabetes, kidney, and lung diseases. Family burden was evaluated in relation to: a) family's socio-demographic variables and patients' clinical variables; b) relatives' attitudes toward the patient; c) social and professional support; d) geographic area and population density. OUTCOME MEASURES: Family Problems Questionnaire, physical illness version (QPF-O) and Social Network Questionnaire (QRS). RESULTS: The consequences of caregiving most frequently reported were constraints in social and recreational activities, and feelings of loss. Burden was more marked in relatives of patients with higher physical disabilities, with neurological illnesses, and in relatives with lower support by their social network. CONCLUSIONS: These data highlight the need to provide psychological and practical support to caregivers of patients with long-term physical diseases on the basis of the evaluation of their needs for care.

Background: What patients’ relatives and health professionals think about causes, treatments and psychosocial consequences of schizophrenia can influence its detection and outcome. Aims: To compare the beliefs about schizophrenia in 190 nurses, 110 psychiatrists and 709 relatives of patients with this mental disorder, recruited in 30 randomly selected mental health centres. Methods: In each centre, the key-relatives of the first consecutive 25 subjects with schizophrenia, and the nurses and psychiatrists who had been working in the service for at least one year, were asked to complete the Questionnaire on the Opinions about Mental Illness (QO). Results: The factors most frequently mentioned by psychiatrists and nurses among the causes of schizophrenia were heredity, stress and family conflicts, while those most frequently mentioned by relatives were stress, traumas and love breakdown. Nurses had opinions: (a) similar to those expressed by psychiatrists concerning patients’ ability to work equally as other people, and patients’ punishability in case of illegal acts; (b) similar to those expressed by relatives about patients’ unpredictability and political rights; (c) significantly different from the other two samples as concerns recognition of patients’ affective rights. Conclusions: Family psychoeducational interventions and nurses’ training should address not only clinical aspects but also disability and psychosocial consequences of schizophrenia.

OBJECTIVE: (a) To explore burden related to caregiving and support received from professionals and social network in relatives of patients with schizophrenia in Northern, Central and Southern Italy; and (b) to test whether a higher level of family burden is associated with a lower level of professional and social network support. METHOD: Seven hundred and nine patients with schizophrenia and their key-relatives were consecutively recruited in 30 Italian mental health departments. Data were collected on: (a) patients' clinical status and levels of disability; (b) relatives' burden, social and professional support; (c) interventions received by patients and their families. RESULTS: Family burden was found lower in Northern Italy. However, after controlling for psychosocial interventions, differences in family burden among the three geographical areas disappeared. Family burden was associated with patients' levels of disability and manic/hostility symptoms, and with professional and social network support received by the family. CONCLUSION: Professional and social network support represent crucial resources to reduce family burden in schizophrenia.