MR MAQ: algorisme de Read Mapping utilitzant la plataforma Hadoop

L’èxit del Projecte Genoma Humà (PGH) l’any 2000 va fer de la “medicina personalitzada” una realitat més propera. Els descobriments del PGH han simplificat les tècniques de seqüenciació de tal manera que actualment qualsevol persona pot aconseguir la seva seqüència d’ADN complerta. La tecnologia de Read Mapping destaca en aquest tipus de tècniques i es caracteritza per manegar una gran quantitat de dades. Hadoop, el framework d’Apache per aplicacions intensives de dades sota el paradigma Map Reduce, resulta un aliat perfecte per aquest tipus de tecnologia i ha sigut l’opció escollida per a realitzar aquest projecte. Durant tot el treball es realitza l’estudi, l’anàlisi i les experimentacions necessàries per aconseguir un Algorisme Genètic innovador que utilitzi tot el potencial de Hadoop.

An exploratory study on facial emotion recognition capacity in beginning Alzheimer's disease.

Objective: It was the aim of this study to investigate facial emotion recognition (FER) in the elderly with cognitive impairment. Method: Twelve patients with Alzheimer's disease (AD) and 12 healthy control subjects were asked to name dynamic or static pictures of basic facial emotions using the Multimodal Emotion Recognition Test and to assess the degree of their difficulty in the recognition task, while their electrodermal conductance was registered as an unconscious processing measure. Results: AD patients had lower objective recognition performances for disgust and fear, but only disgust was accompanied by decreased subjective FER in AD patients. The electrodermal response was similar in all groups. No significant effect of dynamic versus static emotion presentation on FER was found. Conclusion: Selective impairment in recognizing facial expressions of disgust and fear may indicate a nonlinear decline in FER capacity with increasing cognitive impairment and result from progressive though specific damage to neural structures engaged in emotional processing and facial emotion identification. Although our results suggest unchanged unconscious FER processing with increasing cognitive impairment, further investigations on unconscious FER and self-awareness of FER capacity in neurodegenerative disorders are required.

Differential association of drinking motives with alcohol use on weekdays and weekends.

Drinking motives (DM) reflect the reasons why individuals drink alcohol. Weekdays are mainly dedicated to work, whereas weekends are generally associated with spending time with friends during special events or leisure activities; using alcohol on weekdays and weekends may also be related to different DM. This study examined whether DM were differentially associated with drinking volume (DV) on weekdays and weekends. A representative sample of 5,391 young Swiss men completed a questionnaire assessing weekday and weekend DV, as well as their DM, namely, enhancement, social, coping, and conformity motives. Associations of DM with weekday and weekend DV were examined using structural equation models. Each DM was tested individually in a separate model; all associations were positive and generally stronger (except conformity) for weekend rather than for weekday DV. Further specific patterns of association were found when DM were entered into a single model simultaneously. Associations with weekday and with weekend DV were positive for enhancement and coping motives. However, associations were stronger with weekend rather than with weekday DV for enhancement, and stronger with weekday than with weekend DV for coping motives. Associations of social motives were not significant with weekend DV and negative with weekday DV. Conformity motives were negatively associated with weekend DV and positively related to weekday DV. These results suggest that interventions targeting enhancement motives should be particularly effective at decreasing weekend drinking, whereas interventions targeted at coping motives would be particularly effective at reducing alcohol use on weekdays. (PsycINFO Database Record (c) 2014 APA, all rights reserved).

Factors associated with clinical leptospirosis: a population-based case-control study in the Seychelles (Indian Ocean).

BACKGROUND: In Western countries, leptospirosis is uncommon and mainly occurs in farmers and individuals indulging in water-related activities. In tropical countries, leptospirosis can be up to 1000 times more frequent and risk factors for this often severe disease may differ. METHODS: We conducted a one-year population-based matched case-control study to investigate the frequency and associated factors of leptospirosis in the entire population of Seychelles. RESULTS: A total of 75 patients had definite acute leptospirosis based on microagglutination test (MAT) and polymerase chain reaction (PCR) assay (incidence: 101 per 100,000 per year; 95% confidence interval [CI]: 79-126). Among the controls, MAT was positive in 37% (past infection) and PCR assay in 9% (subclinical infection) of men aged 25-64 with manual occupation. Comparing cases and controls with negative MAT and PCR, leptospirosis was associated positively with walking barefoot around the home, washing in streams, gardening, activities in forests, alcohol consumption, rainfall, wet soil around the home, refuse around the home, rats visible around the home during day time, cats in the home, skin wounds and inversely with indoor occupation. The considered factors accounted for as much as 57% of the variance in predicting the disease. CONCLUSION: These data indicate a high incidence of leptospirosis in Seychelles. This suggests that leptospires are likely to be ubiquitous and that effective leptospirosis control in tropical countries needs a multifactorial approach including major behaviour change by large segments of the general public.

IPH response to Social Investment Fund Consultation

The Social Investment Fund aims to reduce poverty, unemployment and physical deterioration in areas through area based interventions of significant scale which will be delivered in partnership with communities. The fund will encourage communities, statutory agencies, businesses and departments to work together in a coordinated way, reducing duplication, sharing best practice and enhancing provision for the benefits of those communities most in need. IPH calls for a consideration of health to be included in the Social Investment Fund.  Each of the four objectives of the programme will have the potential to positively impact on health by increasing education attainment and skill levels, tackling deprivation, increasing community support and enhancing the physical regeneration of communities.  IPH also call for greater clarification on the links with other area based partnerships.

Complex Needs - The Nursing Response to Children and Young People with Complex Physical Healthcare Needs (PDF 832 KB)

Departmental review of nursing services in order to ensure that they are facilitated to fully support and respond to children with complex needs and their families, and for them to work in partnership with other professions and agencies.

Processament de música basat en el seu contingut

Projecte de recerca elaborat a partir d’una estada a la National University of Singapore Singapur, entre juliol i octubre del 2007. Donada l'explosió de la música a l'internet i la ràpida expansió de les col•leccions de música digital, un repte clau en l'àrea de la informació musical és el desenvolupament de sistemes de processament musical eficients i confiables. L'objectiu de la investigació proposada ha estat treballar en diferents aspectes de l'extracció, modelatge i processat del contingut musical. En particular, s’ha treballat en l'extracció, l'anàlisi i la manipulació de descriptors d'àudio de baix nivell, el modelatge de processos musicals, l'estudi i desenvolupament de tècniques d'aprenentatge automàtic per a processar àudio, i la identificació i extracció d'atributs musicals d'alt nivell. S’han revisat i millorat alguns components d'anàlisis d'àudio i revisat components per a l'extracció de descriptors inter-nota i intra-nota en enregistraments monofónics d'àudio. S’ha aplicat treball previ en Tempo a la formalització de diferents tasques musicals. Finalment, s’ha investigat el processat d'alt nivell de música basandonos en el seu contingut. Com exemple d'això, s’ha investigat com músics professionals expressen i comuniquen la seva interpretació del contingut musical i emocional de peces musicals, i hem usat aquesta informació per a identificar automàticament intèrprets. S’han estudiat les desviacions en paràmetres com to, temps, amplitud i timbre a nivell inter-nota i intra-nota.

Prospective evaluation of risk of vertebral fractures using quantitative ultrasound measurements and bone mineral density in a population-based sample of postmenopausal women: results of the Basel Osteoporosis Study.

OBJECTIVE: Prospective studies have shown that quantitative ultrasound (QUS) techniques predict the risk of fracture of the proximal femur with similar standardised risk ratios to dual-energy x-ray absorptiometry (DXA). Few studies have investigated these devices for the prediction of vertebral fractures. The Basel Osteoporosis Study (BOS) is a population-based prospective study to assess the performance of QUS devices and DXA in predicting incident vertebral fractures. METHODS: 432 women aged 60-80 years were followed-up for 3 years. Incident vertebral fractures were assessed radiologically. Bone measurements using DXA (spine and hip) and QUS measurements (calcaneus and proximal phalanges) were performed. Measurements were assessed for their value in predicting incident vertebral fractures using logistic regression. RESULTS: QUS measurements at the calcaneus and DXA measurements discriminated between women with and without incident vertebral fracture, (20% height reduction). The relative risks (RRs) for vertebral fracture, adjusted for age, were 2.3 for the Stiffness Index (SI) and 2.8 for the Quantitative Ultrasound Index (QUI) at the calcaneus and 2.0 for bone mineral density at the lumbar spine. The predictive value (AUC (95% CI)) of QUS measurements at the calcaneus remained highly significant (0.70 for SI, 0.72 for the QUI, and 0.67 for DXA at the lumbar spine) even after adjustment for other confounding variables. CONCLUSIONS: QUS of the calcaneus and bone mineral density measurements were shown to be significant predictors of incident vertebral fracture. The RRs for QUS measurements at the calcaneus are of similar magnitude as for DXA measurements.

Cancer Services - A Position Paper for the Professions Allied to Medicine (PDF 175 KB)

A Position Paper for the Professions Allied to Medicine Patients with cancer are living longer due to early diagnosis and better treatment. In recent years there has been increasing attention to issues related to the quality of life of patients with cancer and a recognition of the potential for habilitation and rehabilitation. As a result, PAMs as members of the multi-disciplinary team are now more actively involved with patients diagnosed with cancer during all phases of their disease. Each person’s life possesses a unique blend of psychological, social, economic and physical factors and comprehensive care requires the needs of the whole person to be addressed. This requires patients and carers having timely access to the most appropriate range of professional skills that will allow individual patients and their carers to retain control of their lives and associated circumstances for as long as possible. It also requires professions, in all locations, to work in a collaborative patient centred manner that affords the best outcome for patients. The need has been highlighted for a multi-professional approach to the delivery of cancer services in “Investing for the Future” and “A Framework for the Multi-professional Contribution to Cancer Care in Northern Ireland”. This need has also been highlighted in the PAM Strategy document. åÊ

Morphometric Vertebral Assessments via the Use of Dual X-ray Absorptiometry for the Evaluation of Radiographic Damage in Ankylosing Spondylitis: A Pilot Study.

We performed a pilot study to compare vertebral fracture assessments (VFA) and lateral X-rays in terms of inter- and intraobserver reliability and degree of correlation for the detection of syndesmophytes in ankylosing spondylitis (AS). We recruited 19 patients with AS and recent lumbar or cervical lateral X-rays with at least one syndesmophyte. Each patient underwent dual-energy X-ray absorptiometry with measurement of bone mineral density and dorso-lumbar VFA. Intra- and interreader reliability for VFA and X-rays were measured using 2 independent, blinded observers and Cohen's kappa values. An adapted modified Stoke Ankylosing Spondylitis Spinal Score (amSASSS) was generated with each method, and these 2 values correlated. For X-rays, intraobserver and interobserver agreement were 94.3% (κ = 0.83) and 98.6% (κ = 0.96), respectively; for VFA, corresponding values were 92.8% (κ = 0.79) and 93.8% (κ = 0.82). Overall agreement between the 2 techniques was 88.6% (κ = 0.72). The Pearson correlation coefficient for the 2 methods was 0.95 for the modified Stoke Ankylosing Spondylitis Spinal Score . Per dual-energy X-ray absorptiometry-generated bone mineral density, >50% of patients were osteopenic and 10% osteoporotic. In terms of reproducibility and correlation with X-rays, performing a VFA appears to be a candidate for assessing radiographic damage in AS, thought further research is necessary to justify this indication.

Work and health : remodelling perspectives of working life research, as proposed by Järvholm et al. (2009)

Järvholm and Co-workers (2009) proposed a conceptual model for research on working life. Models are powerful communication and decision tools. This model is strongly unidirectional and does not cover the mentioned interactions in the arguments.With help of a genealogy of work and of health it is shown that work and health are interactive and have to be analysed on the background of society.Key words: research model, work, health, occupational health, society, interaction, discussion paperRemodellierung der von Järvholm et al. (2009) vorgeschlagenen Forschungsperspektiven in Arbeit und GesundheitJärvholm und Kollegen stellten 2009 ein konzeptionelles Modell für die Forschung im Bereich Arbeit und Gesundheit vor. Modelle stellen kraftvolle Kommunikations- und Entscheidungsinstrumente dar. Die Einflussfaktoren im Modell verlaufen jedoch nur in einer Richtung und bilden die interaktiven Argumente im Text nicht ab. Mit Hilfe einer Genealogie der Begriffe Arbeit und Gesundheit wird aufgezeigt, dass Arbeit und Gesundheit sich gegenseitig beeinflussen und nur vor dem Hintergrund der jeweiligen gesellschaftlichen Kontextfaktoren zu analysieren sind.Introduction : After an interesting introduction about the objectives of research on working life, Järvholm and Co-workers (2009) manage to define a conceptual model for working life research out of a small survey of Occupational Safety and Health (OSH) definitions. The strong point of their model is the entity 'working life' including personal development, as well as career paths and aging. Yet, the model Järvholm et al. (2009) propose is strangely unidirectional; the arrows point from the population to working life, from there to health and to disease, as well as to productivity and economic resources. The diagram only shows one feed-back loop: between economic resources and health. We all know that having a chronic disease condition influences work and working capacity. Economic resources have a strong influence on work, too. Having personal economic resources will influence the kind of work someone accepts and facilitate access to continuous professional education. A third observation is that society is not present in the model, although this is less the case in the arguments. In fact, there is an incomprehensible gap between the arguments brought forth by Järvholm and co-workers and their reductionist model.Switzerland has a very low coverage of occupational health specialists. Switzerland is a long way from fulfilling the WHO's recommendations on workers' access to OSH services as described in its Global plan of action. The Institute for Work and Health (IST) in Lausanne is the only organisation which covers the major domains of OSH research that are occupational medicine, occupational hygiene, ergonomic and psychosocial research. As the country's sole occupational health institution we are forced to reflect the objectives of working life research so as not to waste the scare resources available.I will set out below a much shortened genealogy of work and of health, with the aim of extending Järvholm et al's (2009) analyses on the perspectives of working life research in two directions. Firstly towards the interactive nature of work and health and the integration of society, and secondly towards the question of what working life means or where working life could be situated.Work, as we know it today - paid work regulated by a contract as the basis for sustaining life and as a base for social rights - was born in modern era. Therefore I will start my genealogy in the pre-modern era, focus on the important changes that occurred during industrial revolution and the modern era and end in 2010 taking into account the enormous transformations of the past 20-30 years. I will put aside some 810 years of advances in science and technology that have expanded the world's limits and human understanding, and restrict my genealogy to work and to health/body implicating also the societal realm. [Author]

Off to a good start: all you need to know about breastfeeding your baby

This book presents the reasons why mothers and babies benefit from breastfeeding and explains how to breastfeed successfully. It covers issues including how breastfeeding works, positioning and attachment, how to know if breastfeeding is going well, expressing milk, breastfeeding and babies in special care, advice on breastfeeding and bed-sharing, dealing with common problems, fitting breastfeeding into your life, and going back to work.

Detection of pathogenic bacteria in skin lesions of patients with chiclero's ulcer: reluctant response to antimonial treatment

We investigated the bacterial flora present in skin lesions of patients with chiclero's ulcer from the Yucatan peninsula of Mexico using conventional culture methods (11 patients), and an immunocolorimetric detection of pathogenic Streptococcus pyogenes (15 patients). Prevalence of bacteria isolated by culture methods was 90.9% (10/11). We cultured, from chiclero's ulcers (60%), pathogenic bacterial such as Staphylococcus aureus (20%), S. pyogenes (1.6%), Pseudomonas aeruginosa (1.6%), Morganella morganii (1.6%), and opportunist pathogenic bacteria such as Klebsiella spp. (20.0%), Enterobacter spp. (20%), and Enterococcus spp. (20%). We also cultured coagulase-negative staphylococci in 40% (4/10) of the remaining patients. Micrococcus spp. and coagulase-negative staphylococci constituted the bacterial genuses more frequently isolated in the normal skin of patients with chiclero's ulcer and healthy individuals used as controls. We also undertook another study to find out the presence of S. pyogenes by an immunocolorimetric assay. This study indicated that 60% (9/15) of the ulcerated lesions, but not normal controls, were contaminated with S. pyogenes. Importantly, individuals with purulent secretion and holding concomitant infections with S. pyogenes, S. aureus, P. aeruginosa, M. morganii, and E. durans took longer to heal Leishmania (L.) mexicana infections treated with antimonial drugs. Our results suggest the need to eliminate bacterial purulent infections, by antibiotic treatment, before starting antimonial administration to patients with chiclero's ulcer.

ASIST suicide prevention training - all-island evaluation report

The findings of a Public Health Agency evaluation report on a suicide prevention training programme were today presented at the North South Ministerial Council Health Sector meeting.ASIST, The Applied Suicide Intervention Skills Training programme, has to date been delivered to more than 20,000 people in the Republic of Ireland and more than 11,000 people in Northern Ireland. This two day course, delivered by a wide range of organisations including those from the voluntary/community sector, for professionals and the public helps individuals provide emergency help to people at risk of suicidal behaviour. It also develops a cooperative network among participants, since often many people have to work together to prevent suicide.Talking about the findings of this work, Dr Eddie Rooney, Chief Executive, PHA, said: "Both the PHA and the National Office for Suicide Prevention (NOSP), based in the Republic of Ireland, are concerned for any loss of life through suicide and we send our condolences to all families who have been bereaved. We know ASIST training brings a positive element to suicide prevention. Those who have been trained said that the two biggest advantages are that they know when, how and have the confidence to help people who are under pressure and that it helps to build positive links between community and voluntary organisations and the health service. I am pleased that this has been borne out in the evaluation and we hope ASIST will continue to be of enormous benefit and will contribute to a reduction in suicidal behaviour and the tragedy that this brings to our community".This evaluation found that within organisations where staff had participated in ASIST training, there were improvements in service development; staff attitudes, confidence and skills in relation to suicide and suicide intervention and in policies and procedures. At a community level, ASIST was found to have contributed to a sense of empowerment through an increased confidence in being able to deal with suicide and suicidal behaviour.The report also shows that the ASIST model offers a common language, helping communication between the community or voluntary organisations and those from a health background. In fact this training helped to cancel out any differences between those with mental health qualifications and those without, in terms of knowledge, skills, attitude and willingness to intervene. The study also confirmed that ASIST training was most relevant to those who were likely to be in contact with a person 'at risk'.In welcoming the publication of the report Geoff Day, Director of the NOSP, said: "This report is an independent evaluation of the ASIST programme, it has allowed us to demonstrate the effectiveness of the programme in increasing community participants confidence and ability to respond to individuals in suicidal crisis.He added: "The fact the evaluation was completed on an all-island basis allows the NOSP and the PHA to avoid duplication of resources, improve coordination of suicide prevention training programmes across both jurisdictions and allows us to learn from different approaches used in suicide prevention across the island of Ireland."He reiterated the Health Service Executive commitment to the continued implementation of quality assured training programmes as part of Reach out: the National Strategy for Action on Suicide Prevention.ASIST training is being rolled out in Northern Ireland as part of the implementation of the 'Protect Life' suicide prevention strategy, which was published by the Department of Health, Social Services and Public Safety in 2006.A copy of the evaluation report can be found below and in the publications section of this website, by clicking here

Traveller Focus Week - improving health and wellbeing

Members of the Traveller community and their support organisations joined the Public Health Agency and the Health and Social Care Board at an event in Dungannon to mark Traveller Focus Week (5 - 11 December) by sharing the progress made, and celebrating good practice in meeting the health and wellbeing needs of Travellers.These needs were identified in the 'All Ireland Traveller Health Study' by University College Dublin in June 2010. It estimated that there are 3,905 Travellers living in 1,562 families in Northern Ireland, and the stark findings include that when compared with the life expectancy of the general population, male Travellers lose 15 years of life and females lose 11 years.The report made a number of recommendations, including:prioritising mother and children's health; enhanced preventative work for respiratory and cardiovascular disease, as well as better risk detection and management of the disease; development of primary care interventions which involve Travellers engaging with other Travellers in health improvement;engagement of men and young men in improving health and wellbeing and access to healthcare.Speaking at the event, Mary Black, Assistant Director of Public Health (Health and Social Wellbeing Improvement) PHA, said: "The Public Health Agency works in partnership to promote health and wellbeing and reduce health inequalities."This event with the Travellers Health and Wellbeing Forum was an important opportunity to look at progress against agreed priorities and share good practice across Northen Ireland and the successful work of the Forum. One such example is the recruitment of Travellers into employment as health workers developed by the Belfast Health and Social Care Trust and part-funded by the PHA. Other areas are also considering work placements and all of this developing practice will help inform future partnerships with employers and help break down the real prejudice that can be experienced by Travellers."We also heard about the progress Travellers have made in their own right, and their views about how the Travelling community is fully engaged and participates in the future development of the Forum and programmes that aim to improve health and wellbeing and contribute to a more equal society."Mark Donahue, Equality Officer, An Munia Tober (a Traveller support organisation), added "The event was a great success in terms of highlighting the main health issues for Travellers, which came out of the All Ireland Traveller Health Study. I was heartened to see a great turn out by the Traveller community from all over Northern Ireland and also by the interest and commitment of so many public agencies and other organisations to work together to improve Traveller health."The event, at 'Breakthru' in Dungannon, also brought together representatives from the five health and social care trusts, Cooperation and Working Together (CAWT), Housing and key voluntary sector organisations, all involved in delivering the recommendations from the 'All Ireland Traveller Health Study'.