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1.
BMC Fam Pract ; 18(1): 79, 2017 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-28784088

RESUMO

BACKGROUND: Diagnostic uncertainty is one of the largest contributory factors to the occurrence of diagnostic errors across most specialties in medicine and arguably uncertainty is greatest in primary care due to the undifferentiated symptoms primary care physicians are often presented with. Physicians can respond to diagnostic uncertainty in various ways through the interplay of a series of cognitive, emotional and ethical reactions. The consequences of such uncertainty however can impact negatively upon the primary care practitioner, their patients and the wider healthcare system. Understanding the nature of the existing empirical literature in relation to managing diagnostic uncertainty in primary medical care is a logical and necessary first step in order to understand what solutions are already available and/or to aid the development of any training or feedback aimed at better managing this uncertainty. This review is the first to characterize the existing empirical literature on managing diagnostic uncertainty in primary care. METHODS: Sixteen databases were systematically searched from inception to present with no restrictions. Hand searches of relevant websites and reference lists of included studies were also conducted. Two authors conducted abstract/article screening and data extraction. PRISMA guidelines were adhered to. RESULTS: Ten studies met the inclusion criteria. A narrative and conceptual synthesis was undertaken under the premises of critical reviews. Results suggest that studies have focused on internal factors (traits, skills and strategies) associated with managing diagnostic uncertainty with only one external intervention identified. Cognitive factors ranged from the influences of epistemological viewpoints to practical approaches such as greater knowledge of the patient, utilizing resources to hand and using appropriate safety netting techniques. Emotional aspects of uncertainty management included clinicians embracing uncertainty and working with provisional diagnoses. Ethical aspects of uncertainty management centered on communicating diagnostic uncertainties with patients. Personality traits and characteristics influenced each of the three domains. CONCLUSIONS: There is little empirical evidence on how uncertainty is managed in general practice. However we highlight how the extant literature can be conceptualised into cognitive, emotional and ethical aspects of uncertainty which may help clinicians be more aware of their own biases as well as provide a platform for future research. TRIAL REGISTRATION: PROSPERO registration: CRD42015027555.


Assuntos
Diagnóstico , Médicos de Atenção Primária/psicologia , Atenção Primária à Saúde , Incerteza , Esgotamento Profissional , Cognição , Emoções , Ética Médica , Humanos
2.
Cochrane Database Syst Rev ; (6): CD010856, 2015 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-26092033

RESUMO

BACKGROUND: Dental caries is a major public health problem in most industrialised countries, affecting 60% to 90% of school children. Community water fluoridation was initiated in the USA in 1945 and is currently practised in about 25 countries around the world; health authorities consider it to be a key strategy for preventing dental caries. Given the continued interest in this topic from health professionals, policy makers and the public, it is important to update and maintain a systematic review that reflects contemporary evidence. OBJECTIVES: To evaluate the effects of water fluoridation (artificial or natural) on the prevention of dental caries.To evaluate the effects of water fluoridation (artificial or natural) on dental fluorosis. SEARCH METHODS: We searched the following electronic databases: The Cochrane Oral Health Group's Trials Register (to 19 February 2015); The Cochrane Central Register of Controlled Trials (CENTRAL; Issue 1, 2015); MEDLINE via OVID (1946 to 19 February 2015); EMBASE via OVID (1980 to 19 February 2015); Proquest (to 19 February 2015); Web of Science Conference Proceedings (1990 to 19 February 2015); ZETOC Conference Proceedings (1993 to 19 February 2015). We searched the US National Institutes of Health Trials Registry (ClinicalTrials.gov) and the World Health Organization's WHO International Clinical Trials Registry Platform for ongoing trials. There were no restrictions on language of publication or publication status in the searches of the electronic databases. SELECTION CRITERIA: For caries data, we included only prospective studies with a concurrent control that compared at least two populations - one receiving fluoridated water and the other non-fluoridated water - with outcome(s) evaluated at at least two points in time. For the assessment of fluorosis, we included any type of study design, with concurrent control, that compared populations exposed to different water fluoride concentrations. We included populations of all ages that received fluoridated water (naturally or artificially fluoridated) or non-fluoridated water. DATA COLLECTION AND ANALYSIS: We used an adaptation of the Cochrane 'Risk of bias' tool to assess risk of bias in the included studies.We included the following caries indices in the analyses: decayed, missing and filled teeth (dmft (deciduous dentition) and DMFT (permanent dentition)), and proportion caries free in both dentitions. For dmft and DMFT analyses we calculated the difference in mean change scores between the fluoridated and control groups. For the proportion caries free we calculated the difference in the proportion caries free between the fluoridated and control groups.For fluorosis data we calculated the log odds and presented them as probabilities for interpretation. MAIN RESULTS: A total of 155 studies met the inclusion criteria; 107 studies provided sufficient data for quantitative synthesis.The results from the caries severity data indicate that the initiation of water fluoridation results in reductions in dmft of 1.81 (95% CI 1.31 to 2.31; 9 studies at high risk of bias, 44,268 participants) and in DMFT of 1.16 (95% CI 0.72 to 1.61; 10 studies at high risk of bias, 78,764 participants). This translates to a 35% reduction in dmft and a 26% reduction in DMFT compared to the median control group mean values. There were also increases in the percentage of caries free children of 15% (95% CI 11% to 19%; 10 studies, 39,966 participants) in deciduous dentition and 14% (95% CI 5% to 23%; 8 studies, 53,538 participants) in permanent dentition. The majority of studies (71%) were conducted prior to 1975 and the widespread introduction of the use of fluoride toothpaste.There is insufficient information to determine whether initiation of a water fluoridation programme results in a change in disparities in caries across socioeconomic status (SES) levels.There is insufficient information to determine the effect of stopping water fluoridation programmes on caries levels.No studies that aimed to determine the effectiveness of water fluoridation for preventing caries in adults met the review's inclusion criteria.With regard to dental fluorosis, we estimated that for a fluoride level of 0.7 ppm the percentage of participants with fluorosis of aesthetic concern was approximately 12% (95% CI 8% to 17%; 40 studies, 59,630 participants). This increases to 40% (95% CI 35% to 44%) when considering fluorosis of any level (detected under highly controlled, clinical conditions; 90 studies, 180,530 participants). Over 97% of the studies were at high risk of bias and there was substantial between-study variation. AUTHORS' CONCLUSIONS: There is very little contemporary evidence, meeting the review's inclusion criteria, that has evaluated the effectiveness of water fluoridation for the prevention of caries.The available data come predominantly from studies conducted prior to 1975, and indicate that water fluoridation is effective at reducing caries levels in both deciduous and permanent dentition in children. Our confidence in the size of the effect estimates is limited by the observational nature of the study designs, the high risk of bias within the studies and, importantly, the applicability of the evidence to current lifestyles. The decision to implement a water fluoridation programme relies upon an understanding of the population's oral health behaviour (e.g. use of fluoride toothpaste), the availability and uptake of other caries prevention strategies, their diet and consumption of tap water and the movement/migration of the population. There is insufficient evidence to determine whether water fluoridation results in a change in disparities in caries levels across SES. We did not identify any evidence, meeting the review's inclusion criteria, to determine the effectiveness of water fluoridation for preventing caries in adults.There is insufficient information to determine the effect on caries levels of stopping water fluoridation programmes.There is a significant association between dental fluorosis (of aesthetic concern or all levels of dental fluorosis) and fluoride level. The evidence is limited due to high risk of bias within the studies and substantial between-study variation.


Assuntos
Cárie Dentária/prevenção & controle , Fluoretação/métodos , Adolescente , Criança , Pré-Escolar , Índice CPO , Fluoretação/efeitos adversos , Fluorose Dentária/epidemiologia , Fluorose Dentária/etiologia , Humanos , Estudos Observacionais como Assunto , Estudos Prospectivos , Viés de Seleção
3.
Diagnosis (Berl) ; 8(1): 91-99, 2021 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-32083441

RESUMO

BACKGROUND: Despite growing positive evidence supporting the potential utility of differential diagnostic generator (DDX) tools, uptake has been limited in terms of geography and settings and calls have been made to test such tools in wider routine clinical settings. This study aims to evaluate the feasibility and utility of clinical use of Isabel, an electronic DDX tool, in a United Kingdom (UK) general practice setting. METHODS: Mixed methods. Feasibility and utility were assessed prospectively over a 6-month period via: usage statistics, survey as well as interview data generated from clinicians before and after Isabel was available for clinical use. Normalisation process theory (NPT) was utilised as a sensitising concept in the data collection and analysis of the qualitative data. RESULTS: Usage was extremely limited (n = 18 searches). Most potential users did not utilise the program and of those that did (n = 6), usage was restricted and did not alter subsequent patient management. Baseline interview findings indicated some prior awareness of DDX tools and ambivalent views with regards to potential utility. Post-use interviews supported analytic data and indicated low usage due to a range of endogenous (professional) and exogenous (organisational) factors. CONCLUSIONS: In its current form, this small exploratory study suggests that Isabel is a tool that is unlikely to be utilised on a routine basis in primary care, but may have potential utility for diagnostic support in (1) education/training and (2) rare and diagnostically complex cases.


Assuntos
Medicina Geral , Medicina de Família e Comunidade , Estudos de Viabilidade , Humanos , Atenção Primária à Saúde , Reino Unido
4.
Patient Educ Couns ; 75(1): 25-36, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19084368

RESUMO

OBJECTIVE: To update a meta-analysis and determine the effectiveness of psychological interventions on glycaemic control measured by HbA(1c) and psychological status in type 2 diabetes and to compare effects when interventions are delivered by generalist clinicians compared to psychological specialists. METHODS: We used the original review protocol and searched the Cochrane central register of controlled trials, Medline, Embase, PsychLIT, and Google Scholar from February 2003 (end of previous review) to March 2007. We extracted data on the participants, interventions, delivery methods, comparison groups and outcome measures. RESULTS: 35 trials were reviewed and meta-analysis of 19 trials (n=1431), reporting HbA(1c) found a reduction in HbA(1c) by 0.54% (-0.32; 95% CI: -0.47 to -0.16). In nine trials (n=832) interventions were delivered by diabetes or general clinicians reducing HbA(1c) by 0.51% (-0.27; 95% CI: -0.50 to 0.04). In nine trials, interventions (n=561) were delivered by psychological specialists reducing HbA(1c) by 0.57% (-0.36; 95% CI: -0.61 to 0.12). Meta-analysis of 13 trials reporting psychological status found psychological status to be lower in the intervention groups -0.56 (95% CI: 1.00 to -0.13). Trial quality for the majority of studies remained poor. CONCLUSION: Our findings suggest that psychological and general clinicians are similarly effective in delivering psychological interventions, however, effect sizes for all clinicians have reduced since the earlier review. PRACTICE IMPLICATIONS: Psychological training opportunities for generalist clinicians could lead to wider availability of effective psychological care.


Assuntos
Aconselhamento , Diabetes Mellitus Tipo 2/terapia , Relações Profissional-Paciente , Psicoterapia , Autocuidado/psicologia , Adaptação Psicológica , Aconselhamento/educação , Hemoglobinas Glicadas/metabolismo , Humanos , Psicologia/educação , Psicoterapia/educação
5.
J Patient Saf ; 15(4): 334-342, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-28452916

RESUMO

BACKGROUND: Never events (NEs) are serious preventable patient safety incidents and are a component of formal quality and safety improvement (Q&SI) policies in the United Kingdom and elsewhere. A preliminary list of NEs for UK general practice has been developed, but the frequency of these events, or their acceptability to general practitioner (GPs) as a Q&SI approach, is currently unknown. The study aims to estimate (1) the frequency of 10 NEs occurring within GPs' own practices and (2) the extent to which the NE approach is perceived as acceptable for use. METHODS: General practitioners were surveyed, and mixed-effects logistic regression models examined the relationship between GP opinions of NE, estimates of NE frequency, and the characteristics of the GPs and their practices. RESULTS: Responses from 556 GPs in 412 practices were analyzed. Most participants (70%-88%, depending on the NE) agreed that the described incident should be designated as a NE. Three NEs were estimated to have occurred in less than 4% of practices in the last year; however, two NEs were estimated to have occurred in 45% to 61% of the practices. General practitioners reporting that a NE had occurred in their practice in the last year were significantly less likely to agree with the designation as a NE compared with GPs not reporting a NE (odds ratio, 0.42; 95% CI = 0.36-0.49). CONCLUSIONS: The NE approach may have Q&SI potential for general practice, but further work to adapt the concept and content is required.


Assuntos
Clínicos Gerais/normas , Erros Médicos/estatística & dados numéricos , Segurança do Paciente/normas , Atitude do Pessoal de Saúde , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Melhoria de Qualidade , Inquéritos e Questionários , Reino Unido
6.
BMJ Open ; 8(2): e020870, 2018 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-29490970

RESUMO

OBJECTIVES: To identify the top 10 unanswered research questions for primary care patient safety research. DESIGN: A modified nominal group technique. SETTING: UK. PARTICIPANTS: Anyone with experience of primary care including: patients, carers and healthcare professionals. 341 patients and 86 healthcare professionals submitted questions. MAIN OUTCOMES: A top 10, and top 30, future research questions for primary care patient safety. RESULTS: 443 research questions were submitted by 341 patients and 86 healthcare professionals, through a national survey. After checking for relevance and rephrasing, a total of 173 questions were collated into themes. The themes were largely focused on communication, team and system working, interfaces across primary and secondary care, medication, self-management support and technology. The questions were then prioritised through a national survey, the top 30 questions were taken forward to the final prioritisation workshop. The top 10 research questions focused on the most vulnerable in society, holistic whole-person care, safer communication and coordination between care providers, work intensity, continuity of care, suicide risk, complex care at home and confidentiality. CONCLUSIONS: This study was the first national prioritisation exercise to identify patient and healthcare professional priorities for primary care patient safety research. The research priorities identified a range of important gaps in the existing evidence to inform everyday practice to address primary care patient safety.


Assuntos
Prioridades em Saúde/estatística & dados numéricos , Participação do Paciente , Segurança do Paciente , Atenção Primária à Saúde/métodos , Adolescente , Adulto , Idoso , Pesquisa Biomédica/tendências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Reino Unido , Adulto Jovem
7.
PLoS One ; 11(3): e0148991, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26954234

RESUMO

BACKGROUND: Diagnostic errors are costly and they can contribute to adverse patient outcomes, including avoidable deaths. Differential diagnosis (DDX) generators are electronic tools that may facilitate the diagnostic process. METHODS AND FINDINGS: We conducted a systematic review and meta-analysis to investigate the efficacy and utility of DDX generators. We undertook a comprehensive search of the literature including 16 databases from inception to May 2015 and specialist patient safety databases. We also searched the reference lists of included studies. Article screening, selection and data extraction were independently conducted by 2 reviewers. 36 articles met the eligibility criteria and the pooled accurate diagnosis retrieval rate of DDX tools was high with high heterogeneity (pooled rate = 0.70, 95% CI = 0.63 to 0.77; I2 = 97%, p<0.0001). DDX generators did not demonstrate improved diagnostic retrieval compared to clinicians but small improvements were seen in the before and after studies where clinicians had the opportunity to revisit their diagnoses following DDX generator consultation. Clinical utility data generally indicated high levels of user satisfaction and significant reductions in time taken to use for newer web-based tools. Lengthy differential lists and their low relevance were areas of concern and have the potential to increase diagnostic uncertainty. Data on the number of investigations ordered and on cost-effectiveness remain inconclusive. CONCLUSIONS: DDX generators have the potential to improve diagnostic practice among clinicians. However, the high levels of heterogeneity, the variable quality of the reported data and the minimal benefits observed for complex cases suggest caution. Further research needs to be undertaken in routine clinical settings with greater consideration of enablers and barriers which are likely to impact on DDX use before their use in routine clinical practice can be recommended.


Assuntos
Diagnóstico por Computador/métodos , Diagnóstico por Computador/normas , Diagnóstico por Computador/tendências , Diagnóstico Diferencial , Humanos
8.
PLoS One ; 10(7): e0132340, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26186598

RESUMO

BACKGROUND: An ageing population with multimorbidity is putting pressure on health systems. A popular method of managing this pressure is identification of patients in primary care 'at-risk' of hospitalisation, and delivering case management to improve outcomes and avoid admissions. However, the effectiveness of this model has not been subjected to rigorous quantitative synthesis. METHODS AND FINDINGS: We carried out a systematic review and meta-analysis of the effectiveness of case management for 'at-risk' patients in primary care. Six bibliographic databases were searched using terms for 'case management', 'primary care', and a methodology filter (Cochrane EPOC group). Effectiveness compared to usual care was measured across a number of relevant outcomes: Health--self-assessed health status, mortality; Cost--total cost of care, healthcare utilisation (primary and non-specialist care and secondary care separately), and; Satisfaction--patient satisfaction. We conducted secondary subgroup analyses to assess whether effectiveness was moderated by the particular model of case management, context, and study design. A total of 15,327 titles and abstracts were screened, 36 unique studies were included. Meta-analyses showed no significant differences in total cost, mortality, utilisation of primary or secondary care. A very small significant effect favouring case management was found for self-reported health status in the short-term (0.07, 95% CI 0.00 to 0.14). A small significant effect favouring case management was found for patient satisfaction in the short- (0.26, 0.16 to 0.36) and long-term (0.35, 0.04 to 0.66). Secondary subgroup analyses suggested the effectiveness of case management may be increased when delivered by a multidisciplinary team, when a social worker was involved, and when delivered in a setting rated as low in initial 'strength' of primary care. CONCLUSIONS: This was the first meta-analytic review which examined the effects of case management on a wide range of outcomes and considered also the effects of key moderators. Current results do not support case management as an effective model, especially concerning reduction of secondary care use or total costs. We consider reasons for lack of effect and highlight key research questions for the future. REVIEW PROTOCOL: The review protocol is available as part of the PROSPERO database (registration number: CRD42014010824).


Assuntos
Administração de Caso , Atenção Primária à Saúde , Adulto , Demografia , Feminino , Serviços de Saúde/economia , Humanos , Masculino , Mortalidade , Avaliação de Resultados em Cuidados de Saúde , Satisfação do Paciente , Fatores de Risco , Atenção Secundária à Saúde/estatística & dados numéricos
9.
PLoS One ; 10(8): e0135947, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26317435

RESUMO

BACKGROUND: Multimorbidity is increasingly prevalent and represents a major challenge in primary care. Patients with multimorbidity are potentially more likely to experience safety incidents due to the complexity of their needs and frequency of their interactions with health services. However, rigorous syntheses of the link between patient safety incidents and multimorbidity are not available. This review examined the relationship between multimorbidity and patient safety incidents in primary care. METHODS: We followed our published protocol (PROSPERO registration number: CRD42014007434). Medline, Embase and CINAHL were searched up to May 2015. Study design and quality were assessed. Odds ratios (OR) and 95% confidence intervals (95% CIs) were calculated for the associations between multimorbidity and two categories of patient safety outcomes: 'active patient safety incidents' (such as adverse drug events and medical complications) and 'precursors of safety incidents' (such as prescription errors, medication non-adherence, poor quality of care and diagnostic errors). Meta-analyses using random effects models were undertaken. RESULTS: Eighty six relevant comparisons from 75 studies were included in the analysis. Meta-analysis demonstrated that physical-mental multimorbidity was associated with an increased risk for 'active patient safety incidents' (OR = 2.39, 95% CI = 1.40 to 3.38) and 'precursors of safety incidents' (OR = 1.69, 95% CI = 1.36 to 2.03). Physical multimorbidity was associated with an increased risk for active safety incidents (OR = 1.63, 95% CI = 1.45 to 1.80) but was not associated with precursors of safety incidents (OR = 1.02, 95% CI = 0.90 to 1.13). Statistical heterogeneity was high and the methodological quality of the studies was generally low. CONCLUSIONS: The association between multimorbidity and patient safety is complex, and varies by type of multimorbidity and type of safety incident. Our analyses suggest that multimorbidity involving mental health may be a key driver of safety incidents, which has important implication for the design and targeting of interventions to improve safety. High quality studies examining the mechanisms of patient safety incidents in patients with multimorbidity are needed, with the goal of promoting effective service delivery and ameliorating threats to safety in this group of patients.


Assuntos
Erros Médicos/estatística & dados numéricos , Segurança do Paciente/estatística & dados numéricos , Atenção Primária à Saúde/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Humanos , Masculino , Erros Médicos/mortalidade , Pessoa de Meia-Idade
10.
Health Soc Care Community ; 20(2): 155-71, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21883609

RESUMO

Diabetes is a chronic condition requiring lifelong self-management. Patients are encouraged to access appropriate services to facilitate optimum management of diabetes. Although equitable access to healthcare in the United Kingdom is a legal right, not all groups and individuals in the community experience equity. Despite various equality laws and numerous efforts to minimise health inequalities related to access, particular community groups are more likely to experience inequitable access than others. The Bangladeshi community are one such community who experience some of the worst diabetes-related health outcomes in the United Kingdom. Little is known about their experiences and preferences in accessing diabetes healthcare information and services. Consequently, we undertook a scoping review of the literature by following the York Scoping Reviews Framework to identify the experiences and preferences of Bangladeshi patients and carers when gaining access to diabetes-related healthcare information and services. We identified eight articles and reported our results in relation to four domains of access: health service availability, health service utilisation, health service outcomes and the notion of equity. The review identified that language and literacy issues were the most common barriers hindering access to information and services. Patient knowledge regarding diabetes and its management was generally low, and friends and family were frequently being used as information sources and as informal interpreters. Additionally, there were feelings of isolation from mainstream information and services possibly resulting in the high prevalence of depression in the Bangladeshi community with women more affected than men. Social networks combined with religious and cultural beliefs as well as wider societal duties played a crucial role in accessing information and services for this population, and the identification of these issues merit further research and are possible avenues towards improved access to healthcare information and services for the Bangladeshi population.


Assuntos
Acesso à Informação , Informação de Saúde ao Consumidor , Complicações do Diabetes , Acessibilidade aos Serviços de Saúde , Bangladesh/etnologia , Complicações do Diabetes/prevenção & controle , Inglaterra , Feminino , Disparidades em Assistência à Saúde , Humanos , Masculino
11.
Health Soc Care Community ; 20(1): 1-19, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21749529

RESUMO

A higher risk of diabetes mellitus in South Asian and Black African populations combined with lower reported access and self-management-related health outcomes informed the aims of this study. Our aims were to synthesise and evaluate evidence relating to patient self-management and access to healthcare services for ethnic minority groups living with diabetes. A comprehensive search strategy was developed capturing a full range of study types from 1995-2010, including relevant hand-searched literature pre-dating 1995. Systematic database searches of MEDLINE, Cochrane, DARE, HTA and NHSEED, the British Nursing Index, CAB abstracts, EMBASE, Global Health, Health Management Information Consortium and PsychInfo were conducted, yielding 21,288 abstracts. Following search strategy refinement and the application of review eligibility criteria; 11 randomised controlled trials (RCTs), 18 qualitative studies and 18 quantitative studies were evaluated and principal results extracted. Results suggest that self-management practices are in need of targeted intervention in terms of patients' knowledge and understanding of their illness, inadequacy of information and language and communication difficulties arising from cultural differences. Access to health-care is similarly hindered by a lack of cultural sensitivity in service provision and under use of clinic-based interpreters and community-based services. Recommendations for practice and subsequent intervention primarily rest at the service level but key barriers at patient and provider levels are also identified.


Assuntos
Diabetes Mellitus/etnologia , Etnicidade/estatística & dados numéricos , Acessibilidade aos Serviços de Saúde/organização & administração , Autocuidado , África/etnologia , Ásia Ocidental/etnologia , Região do Caribe/etnologia , Competência Cultural , Países Desenvolvidos , Diabetes Mellitus/terapia , Humanos , Idioma , Qualidade da Assistência à Saúde/organização & administração , Fatores Socioeconômicos , Confiança , Reino Unido/epidemiologia
12.
J Nutr ; 135(6): 1387-92, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15930442

RESUMO

The neuropeptide galanin (GAL) is involved in food intake and in fat ingestion. Presumably, these effects are conveyed via the galanin 1 receptor (GALR1). We screened the coding region of GAL (including 444 bp of its promoter region) and GALR1 for mutations using single-strand conformation polymorphism analysis and denaturing HPLC in up to 191 obese children and adolescents and 106 healthy underweight young adults (students). In GAL, we identified 3 novel single nucleotide polymorphisms (SNPs; silent: g.-419T-->C, g.-244G-->A; missense: g.47C-->T: Ala16Val) and one infrequent missense variation (c.253A-->G: Asn85Asp), and in GALR1 2 novel SNPs (silent: c.150C-->T, missense: c.793A-->T: Ile265Phe). To test for an association with obesity, we genotyped 7 SNPs (GAL: g.-244G-->A, g.47C-->T, rs7101947, rs1042577, rs3136540; GALR1: c.150C-->T, c.793A-->T) in up to 322 obese children and adolescents compared with up to 277 healthy underweight and normal weight young adults. Furthermore, we analyzed these SNPs with respect to potential effects on the percentage of energy consumed as fat in obese children and adolescents. Allele and genotype frequencies did not differ among the groups tested. In addition, we performed a pedigree transmission disequilibrium test (PDT) for one SNP (GAL: g.-244G-->A) in 610 (518 independent) obesity-trios (obese child or adolescent and both of its parents). However, the PDT for SNP GAL g.-244G-->A revealed no transmission disequilibrium. We conclude that the analyzed SNPs in GAL and GALR1 do not play a major role in early onset obesity or dietary fat intake in the obese children and adolescents of our study groups.


Assuntos
Gorduras na Dieta/administração & dosagem , Ingestão de Alimentos/fisiologia , Galanina/fisiologia , Variação Genética , Obesidade/etiologia , Receptor Tipo 1 de Galanina/fisiologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Ingestão de Alimentos/genética , Feminino , Galanina/genética , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Receptor Tipo 1 de Galanina/genética
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