We performed a linkage analysis on 25 extended multiplex Portuguese families segregating for bipolar disorder, by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay, the GeneChip Human Mapping 10K Array (HMA10K). Of these families, 12 were used for a direct comparison of the HMA10K with the traditional 10-cM microsatellite marker set and the more dense 4-cM marker set. This comparative analysis indicated the presence of significant linkage peaks in the SNP assay in chromosomal regions characterized by poor coverage and low information content on the microsatellite assays. The HMA10K provided consistently high information and enhanced coverage throughout these regions. Across the entire genome, the HMA10K had an average information content of 0.842 with 0.21-Mb intermarker spacing. In the 12-family set, the HMA10K-based analysis detected two chromosomal regions with genomewide significant linkage on chromosomes 6q22 and 11p11; both regions had failed to meet this strict threshold with the microsatellite assays. The full 25-family collection further strengthened the findings on chromosome 6q22, achieving genomewide significance with a maximum nonparametric linkage (NPL) score of 4.20 and a maximum LOD score of 3.56 at position 125.8 Mb. In addition to this highly significant finding, several other regions of suggestive linkage have also been identified in the 25-family data set, including two regions on chromosome 2 (57 Mb, NPL = 2.98; 145 Mb, NPL = 3.09), as well as regions on chromosomes 4 (91 Mb, NPL = 2.97), 16 (20 Mb, NPL = 2.89), and 20 (60 Mb, NPL = 2.99). We conclude that at least some of the linkage peaks we have identified may have been largely undetected in previous whole-genome scans for bipolar disorder because of insufficient coverage or information content, particularly on chromosomes 6q22 and 11p11.
BackgroundPeer support services for patients with severe mental illness (SMI) originated from Western countries and have become increasingly popular during the past twenty years. The aim of this paper is to describe a peer service model and its implementation in China, including the model’s feasibility and sustainability.MethodsA peer support service was developed in four Chinese communities. Implementation, feasibility and sustainability were assessed across five domains: Service process, service contents, peer training and supervision, service satisfaction, and service perceived benefit.ResultsService process: 214 peer support activities were held between July 2013 and June 2016. No adverse events occurred during three years. Each activity ranged from 40 to 120 min; most were conducted in a community rehabilitation center or community health care center. Service content: Activities focused on eight primary topics—daily life skills, social skills, knowledge of mental disorders, entertainment, fine motor skill practice, personal perceptions, healthy life style support, emotional support. Peer training and supervision: Intensive training was provided for all peers before they started to provide services. Regular supervision and continued training were provided thereafter; online supervision supplemented face to face meetings. Service satisfaction: Nineteen consumers (79.2%) (χ2(1) = 12.76, p < 0.001) were satisfied with the peers and 17 consumers (70.8%) (χ2(1) = 8.05, p = 0.005) expressed a strong desire to continue to participate in the service. Fourteen caregivers (93.3%) (χ2(1) = 11.27, p = 0.001) wanted the patients to continue to organize or participate in the service. Service perceived benefit: Six peers (85.7%) (χ2(1) = 3.57, p = 0.059) reported an improvement of working skills. Ten consumers (41.7%) (χ2(1) = 0.05, p = 0.827) reported better social communication skills. Six caregivers (40%) (χ2(1) = 1.67, p = 0.197) observed patients’ increase in social communication skills, five (33.3%) (χ2(1) = 1.67, p = 0.197) found their own mood had been improved.ConclusionsPeer support services for patients with SMI can be sustainably implemented within Chinese communities without adverse events that jeopardize safety and patient stability. Suggestions for future service development include having professionals give increased levels of support to peers at the beginning of a new program. A culturally consistent peer service manual, including peer role definition, peer training curriculum, and supervision methods, should be developed to help implement the service smoothly.
Background: Overhydration is common among peritoneal dialysis (PD) patients and can affect PD-related outcomes. This paper aims to systematically investigate whether bioimpedance-assessed overhydration is a predictor for mortality and technique failure in PD patients. Methods: We conducted a systematic review and meta-analysis of cohort studies on overhydration and prognosis in PD patients, strictly complying with the Preferred Reporting Items for Systematical Reviews and Meta-analyses. Results: Eight articles met the selection criteria and 5 studies were included in the meta-analysis. Meta-analyses-revealed overhydration, defined as a high ratio of extracellular water/total body water (ECW/TBW), was significantly associated with higher risk for all-cause mortality and technique failure. Other higher dichotomized overhydration indicators and continuous hydration variables all indicated overhydration as a significant risk factor for all-cause mortality. Conclusion: Overhydration, defined by a higher ratio of ECW/TBW, might be an independent predictor for all-cause mortality and technique failure among PD patients. However, more studies are needed to confirm this conclusion. Video Journal Club ‘Cappuccino with Claudio Ronco’ at https://www.karger.com/Journal/ArticleNews/223997?sponsor=52
As part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome‐wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome‐wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107–114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher‐density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher‐density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome‐wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. Published 2004 Wiley‐Liss, Inc.
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