Genetic addiction risk severity assessment identifies polymorphic reward genes as antecedents to reward deficiency syndrome (RDS) hypodopaminergia\u27s effect on addictive and non-addictive behaviors in a nuclear family

This case series presents the novel genetic addiction risk score (GARS), which shows a high prevalence of polymorphic risk alleles of reward genes in a nuclear family with multiple reward deficiency syndrome (RDS) behavioral issues expressing a hypodopaminergic antecedent. The family consists of a mother, father, son, and daughter. The mother experienced issues with focus, memory, anger, and amotivational syndrome. The father experienced weight issues and depression. The son experienced heavy drinking, along with some drug abuse and anxiety. The daughter experienced depression, lethargy, brain fog, focus issues, and anxiety, among others. A major clinical outcome of the results presented to the family members helped reduce personal guilt and augment potential hope for future healing. Our laboratory\u27s prior research established that carriers of four or more alleles measured by GARS

A Systematic Review of Music Therapy Practice and Outcomes with Acute Adult Psychiatric In-Patients

PMCID: PMC3732280This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Variation in optineurin (OPTN) allele frequencies between and within populations

PURPOSE: To evaluate the extent to which mutations in the optineurin (OPTN) glaucoma gene play a role in glaucoma in different populations. METHODS: Case-controlled study of OPTN sequence variants in individuals with or without glaucoma in populations of different ancestral origins and evaluate previous OPTN reports. We analyzed 314 subjects with African, Asian, Caucasian and Hispanic ancestries included 229 cases of primary open-angle glaucoma, 51 cases of juvenile-onset open-angle glaucoma, 33 cases of normal tension glaucoma, and 371 controls. Polymerase chain reaction-amplified OPTN coding exons were resequenced and case frequencies were compared to frequencies in controls matched for ancestry. RESULTS: The E50K sequence variant was identified in one individual from Chile with normal tension glaucoma, and the 691_692insAG variant was found in one Ashkenazi Jewish individual from Russia. The R545Q variant was found in two Asian individuals with primary open-angle glaucoma; one of Filipino ancestry and one of Korean ancestry. In addition to presenting OPTN allele frequencies for Caucasian and Asian populations that have been the subject of previous reports, we also present information for populations of Hispanic and black African ancestries. CONCLUSIONS: Our study contributes additional evidence to support the previously reported association of the OPTN E50K mutation with glaucoma. After finding an additional 691_692insAG OPTN variant, we can still only conclude that this variant is rare. Combined analysis of our data with data from more than a dozen other studies indicates no association of R545Q with glaucoma in most populations. Those same studies disagree in their conclusions regarding the role of M98K in glaucoma. Our analysis of the combined data provides statistically significant evidence of association of M98K with normal tension glaucoma in Asian populations, but not in Caucasian populations; however, the validity of this conclusion is questionable because of large differences in allele frequencies between and within populations. It is currently not possible to tell how much of the underlying cause of the allele frequency difference is attributable to demographic, technical, or ascertainment differences among the studies

Pilot cluster randomised trial of an evidence-based intervention to reduce avoidable hospital admissions in nursing home residents (Better Health in Residents of Care Homes with Nursing - BHiRCH-NH Study)

YesObjectives To pilot a complex intervention to support healthcare and improve early detection and treatment for common health conditions experienced by nursing home (NH) residents. Design Pilot cluster randomised controlled trial. Setting 14 NHs (7 intervention, 7 control) in London and West Yorkshire. Participants NH residents, their family carers and staff. Intervention Complex intervention to support healthcare and improve early detection and treatment of urinary tract and respiratory infections, chronic heart failure and dehydration, comprising: (1) ‘Stop and Watch (S&W)’ early warning tool for changes in physical health, (2) condition-specific care pathway and (3) Situation, Background, Assessment and Recommendation tool to enhance communication with primary care. Implementation was supported by Practice Development Champions, a Practice Development Support Group and regular telephone coaching with external facilitators. Outcome measures Data on NH (quality ratings, size, ownership), residents, family carers and staff demographics during the month prior to intervention and subsequently, numbers of admissions, accident and emergency visits, and unscheduled general practitioner visits monthly for 6 months during intervention. We collected data on how the intervention was used, healthcare resource use and quality of life data for economic evaluation. We assessed recruitment and retention, and whether a full trial was warranted. Results We recruited 14 NHs, 148 staff, 95 family carers and 245 residents. We retained the majority of participants recruited (95%). 15% of residents had an unplanned hospital admission for one of the four study conditions. We were able to collect sufficient questionnaire data (all over 96% complete). No NH implemented intervention tools as planned. Only 16 S&W forms and 8 care pathways were completed. There was no evidence of harm. Conclusions Recruitment, retention and data collection processes were effective but the intervention not implemented. A full trial is not warranted

Systematic review of effect of community-level interventions to reduce maternal mortality

<p>Abstract</p> <p>Background</p> <p>The objective was to provide a systematic review of the effectiveness of community-level interventions to reduce maternal mortality.</p> <p>Methods</p> <p>We searched published papers using Medline, Embase, Cochrane library, CINAHL, BNI, CAB ABSTRACTS, IBSS, Web of Science, LILACS and African Index Medicus from inception or at least 1982 to June 2006; searched unpublished works using National Research Register website, metaRegister and the WHO International Trial Registry portal. We hand searched major references.</p> <p>Selection criteria were maternity or childbearing age women, comparative study designs with concurrent controls, community-level interventions and maternal death as an outcome. We carried out study selection, data abstraction and quality assessment independently in duplicate.</p> <p>Results</p> <p>We found five cluster randomised controlled trials (RCT) and eight cohort studies of community-level interventions. We summarised results as odds ratios (OR) and confidence intervals (CI), combined using the Peto method for meta-analysis. Two high quality cluster RCTs, aimed at improving perinatal care practices, showed a reduction in maternal mortality reaching statistical significance (OR 0.62, 95% CI 0.39 to 0.98). Three equivalence RCTs of minimal goal-oriented versus usual antenatal care showed no difference in maternal mortality (1.09, 95% CI 0.53 to 2.25). The cohort studies were of low quality and did not contribute further evidence.</p> <p>Conclusion</p> <p>Community-level interventions of improved perinatal care practices can bring about a reduction in maternal mortality. This challenges the view that investment in such interventions is not worthwhile. Programmes to improve maternal mortality should be evaluated using randomised controlled techniques to generate further evidence.</p

Evidence-based intervention to reduce avoidable hospital admissions in care home residents (the Better Health in Residents in Care Homes (BHiRCH) study): Protocol for a pilot cluster randomised trial

YesIntroduction: Acute hospital admission is distressing for care home residents. Ambulatory care sensitive conditions, such as respiratory and urinary tract infections, are conditions that can cause unplanned hospital admission but may have been avoidable with timely detection and intervention in the community. The Better Health in Residents in Care Homes (BHiRCH) programme has feasibility tested and will pilot a multicomponent intervention to reduce these avoidable hospital admissions. The BHiRCH intervention comprises an early warning tool for noting changes in resident health, a care pathway (clinical guidance and decision support system) and a structured method for communicating with primary care, adapted for use in the care home. We use practice development champions to support implementation and embed changes in care. Methods and analysis: Cluster randomised pilot trial to test study procedures and indicate whether a further definitive trial is warranted. Fourteen care homes with nursing (nursing homes) will be randomly allocated to intervention (delivered at nursing home level) or control groups. Two nurses from each home become Practice Development Champions trained to implement the intervention, supported by a practice development support group. Data will be collected for 3 months preintervention, monthly during the 12-month intervention and 1 month after. Individual-level data includes resident, care partner and staff demographics, resident functional status, service use and quality of life (for health economic analysis) and the extent to which staff perceive the organisation supports person centred care. System-level data includes primary and secondary health services contacts (ie, general practitioner and hospital admissions). Process evaluation assesses intervention acceptability, feasibility, fidelity, ease of implementation in practice and study procedures (ie, consent and recruitment rates).UK NIHR grant number RP-PG-0612-20010

The design of a community lifestyle programme to improve the physical and psychological well-being of pregnant women with a BMI of 30 kg/m2 or more

<p>Abstract</p> <p>Background</p> <p>Obesity is a global public health issue. Having a BMI of 30 kg/m²or more (classifying a person as obese) at the start of pregnancy is a significant risk factor for maternal and fetal morbidity. There is a dearth of evidence to inform suitable inteventions to support pregnant women with a BMI of 30 kg/m²or more. Here we describe a study protocol to test the feasibility of a variety of potential healthy lifestyle interventions for pregnant women with a BMI of 30 kg/m²or more in a community based programme.</p> <p>Methods/Design</p> <p>Four hundred women will be approached to attend a 10-week community lifestyle programme. The programme will be provided as a supplement to standard antenatal care. The programme is multi-faceted, aimed at equipping participants with the skills and knowledge needed to adopt healthy behaviours. The social (cognitive) learning theory will be used as a tool to encourage behaviour change, the behaviour change techniques are underpinned by five theoretical components; self-efficacy, outcome expectancies, goal setting, feedback and positive reinforcement.</p> <p>The main outcomes are pregnancy weight gain and caesarean section rate. Other important outcomes include clinical outcomes (e.g., birth weight) and psychological outcomes (e.g., well-being). Secondary outcomes include women's experience of pregnancy and health care services, amount of physical activity, food intake and the suitability of the intervention components.</p> <p>A prospective study using quantitative and qualitative methods will inform the feasibility of implementing the community lifestyle programme with pregnant women with a BMI of 30 kg/m²or more. Mixed methods of data collection will be used, including diaries, focus groups/interviews, pedometers, validated and specifically designed questionnaires, a programme register, weight gain during pregnancy and perinatal outcome data.</p> <p>Discussion</p> <p>Findings from this current feasibility study will inform future interventions and NHS services and add to the evidence-base by providing information about the experiences of pregnant women with a BMI of 30 kg/m²or more undertaking a community lifestyle programme. The study will lead on to a randomised control trial of a suitable intervention to improve the pregnancy outcomes of this target group.</p> <p>Trail Registration</p> <p>ISRCTN29860479.</p

A complex intervention to reduce avoidable hospital admissions in nursing homes: a research programme including the BHiRCH-NH pilot cluster RCT

YesBackground: An unplanned hospital admission of a nursing home resident distresses the person, their family and nursing home staff, and is costly to the NHS. Improving health care in care homes, including early detection of residents’ health changes, may reduce hospital admissions. Previously, we identified four conditions associated with avoidable hospital admissions. We noted promising ‘within-home’ complex interventions including care pathways, knowledge and skills enhancement, and implementation support. Objectives: Develop a complex intervention with implementation support [the Better Health in Residents in Care Homes with Nursing (BHiRCH-NH)] to improve early detection, assessment and treatment for the four conditions. Determine its impact on hospital admissions, test study procedures and acceptability of the intervention and implementation support, and indicate if a definitive trial was warranted. Design: A Carer Reference Panel advised on the intervention, implementation support and study documentation, and engaged in data analysis and interpretation. In workstream 1, we developed a complex intervention to reduce rates of hospitalisation from nursing homes using mixed methods, including a rapid research review, semistructured interviews and consensus workshops. The complex intervention comprised care pathways, approaches to enhance staff knowledge and skills, implementation support and clarity regarding the role of family carers. In workstream 2, we tested the complex intervention and implementation support via two work packages. In work package 1, we conducted a feasibility study of the intervention, implementation support and study procedures in two nursing homes and refined the complex intervention to comprise the Stop and Watch Early Warning Tool (S&W), condition-specific care pathways and a structured framework for nurses to communicate with primary care. The final implementation support included identifying two Practice Development Champions (PDCs) in each intervention home, and supporting them with a training workshop, practice development support group, monthly coaching calls, handbooks and web-based resources. In work package 2, we undertook a cluster randomised controlled trial to pilot test the complex intervention for acceptability and a preliminary estimate of effect. Setting: Fourteen nursing homes allocated to intervention and implementation support (n = 7) or treatment as usual (n = 7). Participants: We recruited sufficient numbers of nursing homes (n = 14), staff (n = 148), family carers (n = 95) and residents (n = 245). Two nursing homes withdrew prior to the intervention starting. Intervention: This ran from February to July 2018. Data sources: Individual-level data on nursing home residents, their family carers and staff; system-level data using nursing home records; and process-level data comprising how the intervention was implemented. Data were collected on recruitment rates, consent and the numbers of family carers who wished to be involved in the residents’ care. Completeness of outcome measures and data collection and the return rate of questionnaires were assessed. Results: The pilot trial showed no effects on hospitalisations or secondary outcomes. No home implemented the intervention tools as expected. Most staff endorsed the importance of early detection, assessment and treatment. Many reported that they ‘were already doing it’, using an early-warning tool; a detailed nursing assessment; or the situation, background, assessment, recommendation communication protocol. Three homes never used the S&W and four never used care pathways. Only 16 S&W forms and eight care pathways were completed. Care records revealed little use of the intervention principles. PDCs from five of six intervention homes attended the training workshop, following which they had variable engagement with implementation support. Progression criteria regarding recruitment and data collection were met: 70% of homes were retained, the proportion of missing data was < 20% and 80% of individuallevel data were collected. Necessary rates of data collection, documentation completion and return over the 6-month study period were achieved. However, intervention tools were not fully adopted, suggesting they would not be sustainable outside the trial. Few hospitalisations for the four conditions suggest it an unsuitable primary outcome measure. Key cost components were estimated. Limitations: The study homes may already have had effective approaches to early detection, assessment and treatment for acute health changes; consistent with government policy emphasising the need for enhanced health care in homes. Alternatively, the implementation support may not have been sufficiently potent. Conclusion: A definitive trial is feasible, but the intervention is unlikely to be effective. Participant recruitment, retention, data collection and engagement with family carers can guide subsequent studies, including service evaluation and quality improvement methodologies. Future work: Intervention research should be conducted in homes which need to enhance early detection, assessment and treatment. Interventions to reduce avoidable hospital admissions may be beneficial in residential care homes, as they are not required to employ nurses.This project was funded by the National Institute for Health Research (NIHR) Programme Grants for Applied Research programme and will be published in full in Programme Grants for Applied Research; Vol. 9, No. 2. See the NIHR Journals Library website for further project information

Communications Biophysics

Contains reports on seven research projects split into three sections.National Institutes of Health (Grant 5 PO1 NS13126)National Institutes of Health (Grant 1 RO1 NS18682)National Institutes of Health (Training Grant 5 T32 NS07047)National Science Foundation (Grant BNS77-16861)National Institutes of Health (Grant 1 F33 NS07202-01)National Institutes of Health (Grant 5 RO1 NS10916)National Institutes of Health (Grant 5 RO1 NS12846)National Institutes of Health (Grant 1 RO1 NS16917)National Institutes of Health (Grant 1 RO1 NS14092-05)National Science Foundation (Grant BNS 77 21751)National Institutes of Health (Grant 5 R01 NS11080)National Institutes of Health (Grant GM-21189