Using an ethnographic approach to explore the influences on uptake and adherence in cardiac rehabilitation

Qualitative inquiry provides a powerful means to investigate which contextual mechanisms contribute to intervention uptake and adherence. Ethnography is efficacious in researching social interactions, behaviours and perceptions within groups, teams, organisations and communities, and can provide rich insights into individual/group views and actions. This ethnographic study will draw on longitudinal observations and two in-depth interviews conducted over a 6-month period with 10-20 participants. Working with two NHS Trusts, the researcher will collaborate with cardiology and cardiac rehabilitation staff to opportunistically recruit those who have opted to and opted not to attend core cardiac rehabilitation. Eligibility screening will take place as part of usual clinical care, with study criteria mirroring that of cardiac rehabilitation eligibility criteria. Snowball sampling will be used to recruit a maximum of two significant others (family and/or friends) as identified by patients. Thematic analysis sensitive to a Bourdieusian theoretical framework will be employed

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.

BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic. Causative mutations have been identified in 4 breeds including the Labrador Retriever, Jack Russell Terrier, Heideterrier, and Danish Pointing Dog.Hypothesis/objectiveClinical and genetic characterization of a neuromuscular disorder in Golden Retriever (GR) puppies.AnimalsFour GR puppies from California were evaluated for generalized muscle weakness beginning at weaning. Biological specimens were collected from the affected puppies, and familial information was obtained. Blood or buccal swabs were obtained from 63 unaffected GRs.MethodsComplete physical, neurological, electrodiagnostic, and histological evaluations and biochemical quantification of muscle acetylcholine receptors were performed. Polymerase chain reaction was used to amplify the 17 exons of COLQ, and sequences were obtained by Sanger sequencing. Variant frequency was assessed in unrelated GRs and a public database.ResultsClinical, neurological, and electrodiagnostic evaluations confirmed a disorder of neuromuscular transmission in a GR family. Sequencing of all exons and splice sites of a primary candidate gene, COLQ, identified a point mutation that predicts an amino acid substitution (G294R). The primary COLQ transcript was absent from affected muscle samples. All affected puppies were homozygous for the mutation, which was not detected outside this GR family or in other breeds.Conclusions and clinical importanceWe confirmed the diagnosis of a CMS in GR puppies and identified a novel COLQ mutation. The COLQ gene encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of skeletal muscle contraction by clearing acetylcholine at the neuromuscular junction. Clinicians and breeders should be aware of this CMS in GR puppies with an early onset of weakness

A level playing ‘field’? A Bourdieusian analysis of the career aspirations of further education students on sports courses

There is currently a distinct dearth of research into how sports students’ career aspirations are formed during their post-compulsory education. This article, based on an ethnographic study of sport students in tertiary education, draws on data collected from two first-year cohorts (n = 34) on two different courses at a further education college in England. The study draws on ethnographic observations, and semi-structured group interviews, to examine in-depth the contrasting occupational perspectives emergent within these two groups of mainly working-class students, and how specific cultural practices affect students’ career aspirations. Utilising a Bourdieusian framework, the paper analyses the internalised, often latent cultural practices that impact upon these students’ diverse career aspirations. The hitherto under-researched dimension of inter-habitus interaction and also the application of doxa are outlined. The article reveals how the two student cohorts are situated within a complex field of relations, where struggles for legitimisation, academic accomplishment and numerous forms of lucrative capital become habituated. The study offers salient Bourdieusian-inspired insights into the career aspirations of these predominantly working-class students and the ways in which certain educational practices contribute to the production and reproduction of class inequalities

Beyond the MHC: A canine model of dermatomyositis shows a complex pattern of genetic risk involving novel loci

Juvenile dermatomyositis (JDM) is a chronic inflammatory myopathy and vasculopathy driven by genetic and environmental influences. Here, we investigated the genetic underpinnings of an analogous, spontaneous disease of dogs also termed dermatomyositis (DMS). As in JDM, we observed a significant association with a haplotype of the major histocompatibility complex (MHC) (DLA-DRB1*002:01/-DQA1*009:01/-DQB1*001:01), particularly in homozygosity (P-val = 0.0001). However, the high incidence of the haplotype among healthy dogs indicated that additional genetic risk factors are likely involved in disease progression. We conducted genome-wide association studies in two modern breeds having common ancestry and detected strong associations with novel loci on canine chromosomes 10 (P-val = 2.3X10-12) and 31 (P-val = 3.95X10-8). Through whole genome resequencing, we identified primary candidate polymorphisms in conserved regions of PAN2 (encoding p.Arg492Cys) and MAP3K7CL(c.383_392ACTCCACAAA\u3eGACT) on chromosomes 10 and 31, respectively. Analyses of these polymorphisms and the MHC haplotypes revealed that nine of 27 genotypic combinations confer high or moderate probability of disease and explain 93% of cases studied. The pattern of disease risk across PAN2 and MAP3K7CL genotypes provided clear evidence for a significant epistatic foundation for this disease, a risk further impacted by MHC haplotypes. We also observed a genotype-phenotype correlation wherein an earlier age of onset is correlated with an increased number of risk alleles at PAN2 and MAP3K7CL. High frequencies of multiple genetic risk factors are unique to affected breeds and likely arose coincident with artificial selection for desirable phenotypes. Described herein is the first three-locus association with a complex canine disease and two novel loci that provide targets for exploration in JDM and related immunological dysfunction

Risky bodies, risky spaces, maternal ‘instincts’: swimming and motherhood

Swimming and aquatic activity are fields in which gendered, embodied identities are brought to the fore, and the co-presence of other bodies can have a significant impact upon lived experiences. To date, however, there has been little research on sport and physical cultures that investigates how meanings associated with space impact upon women’s embodied experiences of participating in swimming, specifically in the presence of their young children. Using semi-structured interviews and non-participant observations, this qualitative study employed a Foucauldian-feminist framework to explore self-perceptions and embodied experiences of aquatic activity amongst 20 women, who were swimming with children aged under 4. Results highlight that through ‘felt’ maternal responsibilities, the co-presence of babies’ and children’s bodies shifted women’s intentionality away from the self towards their child. Mothers’ embodied experiences were grounded in perceptions of space-specific ‘maternal instincts’ and focused upon disciplining their children’s bodies in the lived-space of the swimming pool. Key findings cohere around mothers’ felt concerns about hygiene, water temperature and safety, and elements of intercorporeality and ‘somatic empathy’

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Background: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the responsible mutations are unknown. The clinical presentation in dogs is characterized by marked muscle weakness and atrophy in the shoulder and hips during puppyhood. Methods: Following clinical evaluation, the identification of the dystrophic histological phenotype on muscle histology, and demonstration of the absence of sarcoglycan-sarcospan complex by immunostaining, whole exome sequencing was performed on five Boston terriers: one affected dog and its three family members and one unrelated affected dog. Results: Within sarcoglycan-delta (SGCD), a two base pair deletion segregating with LGMD in the family was discovered, and a deletion encompassing exons 7 and 8 was found in the unrelated dog. Both mutations are predicted to cause an absence of SGCD protein, confirmed by immunohistochemistry. The mutations are private to each family. Conclusions: Here, we describe the first cases of canine LGMD characterized at the molecular level with the classification of LGMD2F.Peer reviewe

Sensory sociological phenomenology, somatic learning and 'lived' temperature in competitive pool swimming

In this article, we address an existing lacuna in the sociology of the senses, by employing sociological phenomenology to illuminate the under-researched sense of temperature, as lived by a social group for whom water temperature is particularly salient: competitive pool swimmers. The research contributes to a developing ‘sensory sociology’ that highlights the importance of the socio-cultural framing of the senses and ‘sensory work’, but where there remains a dearth of sociological exploration into senses extending beyond the ‘classic five’ sensorium. Drawing on data from a three-year ethnographic study of competitive swimmers in the UK, our analysis explores the rich sensuousities of swimming, and highlights the role of temperature as fundamentally affecting the affordances offered by the aquatic environment. The article contributes original theoretical perspectives to the sociology of the senses and of sport in addressing the ways in which social actors in the aquatic environment interact, both intersubjectively and intercorporeally, as thermal beings

Evaluating a Modular Approach to Therapy for Children With Anxiety, Depression, Trauma, or Conduct Problems (MATCH) in School-Based Mental Health Care: Study Protocol for a Randomized Controlled Trial

Introduction: Schools have become a primary setting for providing mental health care to youths in the U.S. School-based interventions have proliferated, but their effects on mental health and academic outcomes remain understudied. In this study we will implement and evaluate the effects of a flexible multidiagnostic treatment called Modular Approach to Therapy for Children with Anxiety, Depression, Trauma, or Conduct Problems (MATCH) on students' mental health and academic outcomes. Methods and Analysis: This is an assessor-blind randomized controlled effectiveness trial conducted across five school districts. School clinicians are randomized to either MATCH or usual care (UC) treatment conditions. The target sample includes 168 youths (ages 7-14) referred for mental health services and presenting with elevated symptoms of anxiety, depression, trauma, and/or conduct problems. Clinicians randomly assigned to MATCH or UC treat the youths who are assigned to them through normal school referral procedures. The project will evaluate the effectiveness of MATCH compared to UC on youths' mental health and school related outcomes and assess whether changes in school outcomes are mediated by changes in youth mental health. Ethics and Dissemination: This study was approved by the Harvard University Institutional Review Board (IRB14-3365). We plan to publish the findings in peer-reviewed journals and present them at academic conferences. Clinical Trial Registration: ClinicalTrials.gov ID: NCT02877875. Registered on August 24, 2016

Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease A Randomized Clinical Trial

Importance Deutetrabenazine is a novel molecule containing deuterium, which attenuates CYP2D6 metabolism and increases active metabolite half-lives and may therefore lead to stable systemic exposure while preserving key pharmacological activity. Objective To evaluate efficacy and safety of deutetrabenazine treatment to control chorea associated with Huntington disease. Design, Setting, and Participants Ninety ambulatory adults diagnosed with manifest Huntington disease and a baseline total maximal chorea score of 8 or higher (range, 0-28; lower score indicates less chorea) were enrolled from August 2013 to August 2014 and randomized to receive deutetrabenazine (n = 45) or placebo (n = 45) in a double-blind fashion at 34 Huntington Study Group sites. Interventions Deutetrabenazine or placebo was titrated to optimal dose level over 8 weeks and maintained for 4 weeks, followed by a 1-week washout. Main Outcomes and Measures Primary end point was the total maximal chorea score change from baseline (the average of values from the screening and day-0 visits) to maintenance therapy (the average of values from the week 9 and 12 visits) obtained by in-person visits. This study was designed to detect a 2.7-unit treatment difference in scores. The secondary end points, assessed hierarchically, were the proportion of patients who achieved treatment success on the Patient Global Impression of Change (PGIC) and on the Clinical Global Impression of Change (CGIC), the change in 36-Item Short Form– physical functioning subscale score (SF-36), and the change in the Berg Balance Test. Results Ninety patients with Huntington disease (mean age, 53.7 years; 40 women [44.4%]) were enrolled. In the deutetrabenazine group, the mean total maximal chorea scores improved from 12.1 (95% CI, 11.2-12.9) to 7.7 (95% CI, 6.5-8.9), whereas in the placebo group, scores improved from 13.2 (95% CI, 12.2-14.3) to 11.3 (95% CI, 10.0-12.5); the mean between-group difference was –2.5 units (95% CI, –3.7 to –1.3) (P < .001). Treatment success, as measured by the PGIC, occurred in 23 patients (51%) in the deutetrabenazine group vs 9 (20%) in the placebo group (P = .002). As measured by the CGIC, treatment success occurred in 19 patients (42%) in the deutetrabenazine group vs 6 (13%) in the placebo group (P = .002). In the deutetrabenazine group, the mean SF-36 physical functioning subscale scores decreased from 47.5 (95% CI, 44.3-50.8) to 47.4 (44.3-50.5), whereas in the placebo group, scores decreased from 43.2 (95% CI, 40.2-46.3) to 39.9 (95% CI, 36.2-43.6), for a treatment benefit of 4.3 (95% CI, 0.4 to 8.3) (P = .03). There was no difference between groups (mean difference of 1.0 unit; 95% CI, –0.3 to 2.3; P = .14), for improvement in the Berg Balance Test, which improved by 2.2 units (95% CI, 1.3-3.1) in the deutetrabenazine group and by 1.3 units (95% CI, 0.4-2.2) in the placebo group. Adverse event rates were similar for deutetrabenazine and placebo, including depression, anxiety, and akathisia. Conclusions and Relevance Among patients with chorea associated with Huntington disease, the use of deutetrabenazine compared with placebo resulted in improved motor signs at 12 weeks. Further research is needed to assess the clinical importance of the effect size and to determine longer-term efficacy and safety