3 research outputs found

    A novel Alzheimer disease locus located near the gene encoding tau protein

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    APOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer’s Project (IGAP) Consortium in APOE ε4+ (10,352 cases and 9,207 controls) and APOE ε4- (7,184 cases and 26,968 controls) subgroups as well as in the total sample testing for interaction between a SNP and APOE ε4 status. Suggestive associations (P<1x10-4) in stage 1 were evaluated in an independent sample (stage 2) containing 4,203 subjects (APOE ε4+: 1,250 cases and 536 controls; APOE ε4-: 718 cases and 1,699 controls). Among APOE ε4- subjects, novel genome-wide significant (GWS) association was observed with 17 SNPs (all between KANSL1 and LRRC37A on chromosome 17 near MAPT) in a meta-analysis of the stage 1 and stage 2 datasets (best SNP, rs2732703, P=5·8x10-9). Conditional analysis revealed that rs2732703 accounted for association signals in the entire 100 kilobase region that includes MAPT. Except for previously identified AD loci showing stronger association in APOE ε4+ subjects (CR1 and CLU) or APOE ε4- subjects (MS4A6A/MS4A4A/ MS4A6E), no other SNPs were significantly associated with AD in a specific APOE genotype subgroup. In addition, the finding in the stage 1 sample that AD risk is significansignificantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6x10-7) is noteworthy because TMEM106B variants have previously been associated with risk of frontotemporal dementia. Expression quantitative trait locus analysis revealed that rs113986870, one of the GWS SNPs near rs2732703, is significantly associated with four KANSL1 probes that target transcription of the first translated exon and an untranslated exon in hippocampus (P<1.3x10-8), frontal cortex (P<1.3x10-9), and temporal cortex (P<1.2x10-11). Rs113986870 is also strongly associated with a MAPT probe that targets transcription of alternatively spliced exon 3 in frontal cortex (P=9.2x10-6) and temporal cortex (P=2.6x10-6). Our APOE-stratified GWAS is the first to show GWS association for AD with SNPs in the chromosome 17q21.31 region. Replication of this finding in independent samples is needed to verify that SNPs in this region have significantly stronger effects on AD risk in persons lacking APOE ε4 compared to persons carrying this allele, and if this is found to hold, further examination of this region and studies aimed at deciphering the mechanism(s) are warranted

    Impact of collaboration between psychologists and dermatologists: UK hospital system example

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    There is a strong known link between the mind and the skin, with studies indicating that some individuals who live with skin disorders can exhibit high levels of psychological distress. Historically, the psychological impact of skin conditions has often been disregarded by health professionals, friends, and family members. However, more recently, clinicians are becoming aware of the benefits of combining medical and psychological treatment for these patients. Within the United Kingdom, this is becoming more popular within dermatology due to a recent study that measured clinical utility and cost savings. Understanding the theory behind psychocutaneous medicine enables dermatologists to work alongside psychologists to provide holistic treatment by meeting the medical and psychological needs of our patients. Keywords: psychological, stress, holistic, service, clinical utility, cost utilit

    Acceptability of interventions delivered online and through mobile phones for people who experience severe mental health problems:A systematic review

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    Background: Psychological interventions are recommended for people with severe mental health problems (SMI). However, barriers exist in the provision of these services and access is limited. Therefore, researchers are beginning to develop and deliver interventions online and via mobile phones. Previous research has indicated that interventions delivered in this format are acceptable for people with SMI. However, a comprehensive systematic review is needed to investigate the acceptability of online and mobile phone-delivered interventions for SMI in depth. Objective: This systematic review aimed to 1) identify the hypothetical acceptability (acceptability prior to or without the delivery of an intervention) and actual acceptability (acceptability where an intervention was delivered) of online and mobile phone-delivered interventions for SMI, 2) investigate the impact of factors such as demographic and clinical characteristics on acceptability, and 3) identify common participant views in qualitative studies that pinpoint factors influencing acceptability. Methods: We conducted a systematic search of the databases PubMed, Embase, PsycINFO, CINAHL, and Web of Science in April 2015, which yielded a total of 8017 search results, with 49 studies meeting the full inclusion criteria. Studies were included if they measured acceptability through participant views, module completion rates, or intervention use. Studies delivering interventions were included if the delivery method was online or via mobile phones. Results: The hypothetical acceptability of online and mobile phone-delivered interventions for SMI was relatively low, while actual acceptability tended to be high. Hypothetical acceptability was higher for interventions delivered via text messages than by emails. The majority of studies that assessed the impact of demographic characteristics on acceptability reported no significant relationships between the two. Additionally, actual acceptability was higher when participants were provided remote online support. Common qualitative factors relating to acceptability were safety and privacy concerns, the importance of an engaging and appealing delivery format, the inclusion of peer support, computer and mobile phone literacy, technical issues, and concerns about the impact of psychological state on intervention use. Conclusions: This systematic review provides an in-depth focus on the acceptability of online and mobile phone-delivered interventions for SMI and identified the need for further research in this area. Based on the results from this review, we recommend that researchers measure both hypothetical and actual acceptability to identify whether initial perceptions of online and mobile phone-delivered interventions change after access. In addition, more focus is needed on the potential impact of demographic and clinical characteristics on acceptability. The review also identified issues with module completion rates and intervention use as measures of acceptability. We therefore advise researchers to obtain qualitative reports of acceptability throughout each phase of intervention development and testing. Further implications and opportunities for future research are discussed
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