Assessing health centre systems for guiding improvement in diabetes care

BACKGROUND: Aboriginal people in Australia experience the highest prevalence of diabetes in the country, an excess of preventable complications and early death. There is increasing evidence demonstrating the importance of healthcare systems for improvement of chronic illness care. The aims of this study were to assess the status of systems for chronic illness care in Aboriginal community health centres, and to explore whether more developed systems were associated with better quality of diabetes care. METHODS: This cross-sectional study was conducted in 12 Aboriginal community health centres in the Northern Territory of Australia. Assessment of Chronic Illness Care scale was adapted to measure system development in health centres, and administered by interview with health centre staff and managers. Based on a random sample of 295 clinical records from attending clients with diagnosed type 2 diabetes, processes of diabetes care were measured by rating of health service delivery against best-practice guidelines. Intermediate outcomes included the control of HbA1c, blood pressure, and total cholesterol. RESULTS: Health centre systems were in the low to mid-range of development and had distinct areas of strength and weakness. Four of the six system components were independently associated with quality of diabetes care: an increase of 1 unit of score for organisational influence, community linkages, and clinical information systems, respectively, was associated with 4.3%, 3.8%, and 4.5% improvement in adherence to process standards; likewise, organisational influence, delivery system design and clinical information systems were related to control of HbA1c, blood pressure, and total cholesterol. CONCLUSION: The state of development of health centre systems is reflected in quality of care outcome measures for patients. The health centre systems assessment tool should be useful in assessing and guiding development of systems for improvement of diabetes care in similar settings in Australia and internationally

A flexible coupling approach to multi-agent planning under incomplete information

The final publication is available at Springer via http://dx.doi.org/10.1007/s10115-012-0569-7Multi-agent planning (MAP) approaches are typically oriented at solving loosely coupled problems, being ineffective to deal with more complex, strongly related problems. In most cases, agents work under complete information, building complete knowledge bases. The present article introduces a general-purpose MAP framework designed to tackle problems of any coupling levels under incomplete information. Agents in our MAP model are partially unaware of the information managed by the rest of agents and share only the critical information that affects other agents, thus maintaining a distributed vision of the task. Agents solve MAP tasks through the adoption of an iterative refinement planning procedure that uses single-agent planning technology. In particular, agents will devise refinements through the partial-order planning paradigm, a flexible framework to build refinement plans leaving unsolved details that will be gradually completed by means of new refinements. Our proposal is supported with the implementation of a fully operative MAP system and we show various experiments when running our system over different types of MAP problems, from the most strongly related to the most loosely coupled.This work has been partly supported by the Spanish MICINN under projects Consolider Ingenio 2010 CSD2007-00022 and TIN2011-27652-C03-01, and the Valencian Prometeo project 2008/051.Torreño Lerma, A.; Onaindia De La Rivaherrera, E.; Sapena Vercher, O. (2014). A flexible coupling approach to multi-agent planning under incomplete information. 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A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records

Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45,882 controls among the non-Hispanic whites from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We identified two novel genome-wide significant SNPs: rs4932196 (odds ratio = 1.185, p = 4.0x10-11), 52Kb 3’ of ISG20, which replicated in a meta-analysis of the other GERA race/ethnicity groups (1,025 cases, 12,388 controls, p = 0.00094) and in a UK Biobank case-control analysis (30,802 self-reported cases, 78,586 controls, p = 0.015); and rs58389158 (odds ratio = 1.132, p = 1.8x10-9), which replicated in the UK Biobank (p = 0.00021). The latter SNP lies just outside exon 8 and is highly correlated (r2 = 0.96) with the missense SNP rs5756795 in exon 7 of TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. We further tested these SNPs in phenotypes from audiologist notes available on a subset of GERA (4,903 individuals), stratified by case/control status, to construct an independent replication test, and found a significant effect of rs58389158 on speech reception threshold (SRT; overall GERA meta-analysis p = 1.9x10-6). We also tested variants within exons of 132 other previously-identified hearing loss genes, and identified two common additional significant SNPs: rs2877561 (synonymous change in ILDR1, p = 6.2x10-5), which replicated in the UK Biobank (p = 0.00057), and had a significant GERA SRT (p = 0.00019) and speech discrimination score (SDS; p = 0.0019); and rs9493627 (missense change in EYA4, p = 0.00011) which replicated in the UK Biobank (p = 0.0095), other GERA groups (p = 0.0080), and had a consistent significant result for SRT (p = 0.041) and suggestive result for SDS (p = 0.081). Large cohorts with GWAS data and electronic health records may be a useful method to characterize the genetic architecture of ARHI

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

<p>Abstract</p> <p>Background</p> <p>Fabry patients have symptoms and signs compatible with autonomic dysfunction. These symptoms and signs are considered to be due to impairment of the peripheral nervous system, but findings indicative of autonomic neuropathy in other diseases, such as orthostatic intolerance and male sexual dysfunction, are infrequently reported in Fabry disease. The aim of our study was to investigate autonomic symptoms and cardiovascular autonomic function in a large cohort of male and female Fabry patients.</p> <p>Methods</p> <p>Forty-eight Fabry patients (15 male, 30 treated with enzyme replacement therapy) and 48 sex- and age-matched controls completed a questionnaire on autonomic symptoms (the Autonomic Symptom Profile). Thirty-six Fabry patients underwent cardiovascular function tests.</p> <p>Results</p> <p>The Autonomic Symptom Profile revealed a significantly higher sum score in Fabry patients than in healthy control subjects (22 versus 12), but a relatively low score compared to patients with proven autonomic neuropathy. Fabry patients scored worse than healthy controls in the orthostatic intolerance domain. Scores in the male sexual dysfunction domain were comparable between healthy controls and male Fabry patients. The cardiovascular autonomic function tests revealed only mild abnormalities in seven patients. None of these seven patients showed more than one abnormal test result. Enzyme replacement therapy was not associated with less severe disease, lower ASP scores or less frequent abnormal cardiovascular function test results.</p> <p>Conclusions</p> <p>Male sexual function and autonomic control of the cardiovascular system are nearly normal in Fabry patients, which cast doubt on the general accepted assumption that autonomic neuropathy is the main cause of symptoms and signs compatible with autonomic dysfunction in Fabry disease. Possibly, end-organ damage plays a key role in the development of symptoms and signs in Fabry patients. An exceptional kind of autonomic neuropathy is another but less likely explanation.</p

Height and timing of growth spurt during puberty in young people living with vertically acquired HIV in Europe and Thailand.

OBJECTIVE: The aim of this study was to describe growth during puberty in young people with vertically acquired HIV. DESIGN: Pooled data from 12 paediatric HIV cohorts in Europe and Thailand. METHODS: One thousand and ninety-four children initiating a nonnucleoside reverse transcriptase inhibitor or boosted protease inhibitor based regimen aged 1-10 years were included. Super Imposition by Translation And Rotation (SITAR) models described growth from age 8 years using three parameters (average height, timing and shape of the growth spurt), dependent on age and height-for-age z-score (HAZ) (WHO references) at antiretroviral therapy (ART) initiation. Multivariate regression explored characteristics associated with these three parameters. RESULTS: At ART initiation, median age and HAZ was 6.4 [interquartile range (IQR): 2.8, 9.0] years and -1.2 (IQR: -2.3 to -0.2), respectively. Median follow-up was 9.1 (IQR: 6.9, 11.4) years. In girls, older age and lower HAZ at ART initiation were independently associated with a growth spurt which occurred 0.41 (95% confidence interval 0.20-0.62) years later in children starting ART age 6 to 10 years compared with 1 to 2 years and 1.50 (1.21-1.78) years later in those starting with HAZ less than -3 compared with HAZ at least -1. Later growth spurts in girls resulted in continued height growth into later adolescence. In boys starting ART with HAZ less than -1, growth spurts were later in children starting ART in the oldest age group, but for HAZ at least -1, there was no association with age. Girls and boys who initiated ART with HAZ at least -1 maintained a similar height to the WHO reference mean. CONCLUSION: Stunting at ART initiation was associated with later growth spurts in girls. Children with HAZ at least -1 at ART initiation grew in height at the level expected in HIV negative children of a comparable age

Ovicidal Activity of Organophosphate, Oxadiazine, Neonicotinoid and Insect Growth Regulator Chemistries on Northern Strain Plum Curculio, Conotrachelus nenuphar

An in vitro method was developed for assessing ovicidal effects of the organophosphate azinphos-methyl, the neonicotioids thiacloprid, thiamethoxam and clothianidin, the oxadiazine indoxacarb and the insect growth regulators novaluron and pyriproxifen on the plum curculio, Conotrachelus nenuphar (Herbst)(Coleoptera: Curculionidae). The baseline survivorship of this method was 88 percent. Plum curculio eggs were most sensitive to azinphos-methyl. Thiacloprid, clothianidin and the chitin synthesis inhibitor, novaluron, had LC50 values below 100 ppm. Thiamethoxam, indoxacarb and pyriproxifen were not ovicidal at 100 ppm. Octanol-water partitioning coefficients, log Kow, appeared to be an important indicator of ovicidal activity within the neonicotinoids. This new bioassay method eliminates the confounding of the insect-chemical and plant-chemical interactions and the results highlight the utility of a post-infestation curative approach to plum curculio management

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males, the term GRES syndrome (Genital, Renal, Ear, Skeletal) might be more appropriate when applied to both sexes. The MRKH syndrome, when described in familial aggregates, seems to be transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal deletion. Until recently progress in understanding the genetics of MRKH syndrome has been slow, however, now HOX genes have been shown to play key roles in body patterning and organogenesis, and in particular during genital tract development. Expression and/or function defects of one or several HOX genes may account for this syndrome

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, play a significant role in the genetic aetiology of this condition. In this study, we describe the phenotypic and genomic characterisation of a multiplex autism family from the AGP study that was found to harbour a duplication of exons 31–44 of the Duchenne/Becker muscular dystrophy gene DMD and also a rare deletion involving exons 1–9 of TRPM3. Further characterisation of these extremely rare CNVs was carried out using quantitative PCR, fluorescent in situ hybridisation, long-range PCR amplification and sequencing of junction fragments. The maternal chrX:32,097,213-32,321,945 tandem duplication and paternal chr9:72,480,413-73,064,196 deletion (NCBI build 36 coordinates) were transmitted to both affected boys, potentially signifying a multi-hit mechanism. The DMD reading frame rule predicts a Becker phenotype, characterised by later onset and milder symptoms. When last evaluated, neither child had developed signs of muscular dystrophy. These data are consistent with a degree of comorbidity between autism and muscular dystrophy and suggest that genomic background as well as the position of the mutation within the DMD gene may impact on the neurological correlates of Duchenne/Becker muscular dystrophy. Finally, communicating unexpected findings such as these back to families raises a number of ethical questions, which are discussed

Investigating a training supporting shared decision making (IT'S SDM 2011): study protocol for a randomized controlled trial

<p/> <p>Background</p> <p>Shared Decision Making (SDM) is regarded as the best practice model for the communicative challenge of decision making about treatment or diagnostic options. However, randomized controlled trials focusing the effectiveness of SDM trainings are rare and existing measures of SDM are increasingly challenged by the latest research findings. This study will 1) evaluate a new physicians' communication training regarding patient involvement in terms of SDM, 2) validate SDM_MASS, a new compound measure of SDM, and 3) evaluate the effects of SDM on the perceived quality of the decision process and on the elaboration of the decision.</p> <p>Methods</p> <p>In a multi-center randomized controlled trial with a waiting control group, 40 physicians from 7 medical fields are enrolled. Each physician contributes a sequence of four medical consultations including a diagnostic or treatment decision.</p> <p>The intervention consists of two condensed video-based individual coaching sessions (15min.) supported by a manual and a DVD. The interventions alternate with three measurement points plus follow up (6 months).</p> <p>Realized patient involvement is measured using the coefficient SDM_MASSdrawn from the Multifocal Approach to the Sharing in SDM (MAPPIN'SDM) which includes objective involvement, involvement as perceived by the patient, and the doctor-patient concordance regarding their judges of the involvement. For validation purposes, all three components of SDM_MASSare supplemented by similar measures, the OPTION observer scale, the Shared Decision Making Questionnaire (SDM-Q) and the dyadic application of the Decisional Conflict Scale (DCS). Training effects are analyzed using t-tests. Spearman correlation coefficients are used to determine convergent validities, the influence of involvement (SDM_MASS) on the perceived decision quality (DCS) and on the elaboration of the decision. The latter is operationalised by the ELAB coefficient from the UP24 (Uncertainty Profile, 24 items version).</p> <p>Discussion</p> <p>Due to the rigorous blinded randomized controlled design, the current trial promises valid and reliable results. On the one hand, we expect this condensed time-saving training to be adopted in clinical routine more likely than previous trainings. On the other hand, the exhaustivity of the MAPPIN'SDM measurement system qualifies it as a reference measure for simpler instruments and to deepen understanding of decision-making processes.</p> <p>Trial registration</p> <p>Current Controlled Trials <a href="http://www.controlled-trials.com/ISRCTN78716079">ISRCTN78716079</a></p