RESUMO
BACKGROUND AND AIM: Retinal vessel abnormalities are associated with cardiovascular disease (CVD) risk. To date, there are no trials investigating the effect of dietary factors on the retinal microvasculature. This study examined the dose response effect of fruit and vegetable (FV) intake on retinal vessel caliber in overweight adults at high CVD risk. METHODS AND RESULTS: Following a 4 week washout period, participants were randomized to consume either 2 or 4 or 7 portions of FV daily for 12 weeks. Retinal vessel caliber was measured at baseline and post-intervention. A total of 62 participants completed the study. Self-reported FV intake indicated good compliance with the intervention, with serum concentrations of zeaxanthin and lutein increasing significantly across the groups in a dose-dependent manner (P for trend < 0.05). There were no significant changes in body composition, 24-h ambulatory blood pressure or fasting blood lipid profiles in response to the FV intervention. Increasing age was a significant determinant of wider retinal venules (P = 0.004) whereas baseline systolic blood pressure was a significant determinant of narrower retinal arterioles (P = 0.03). Overall, there was no evidence of any short-term dose-response effect of FV intake on retinal vessel caliber (CRAE (P = 0.92) or CRVE (P = 0.42)). CONCLUSIONS: This study demonstrated no effect of increasing FV intake on retinal vessel caliber in overweight adults at high risk of developing primary CVD. CLINICAL TRIAL REGISTRATION: NCT00874341.
Assuntos
Doenças Cardiovasculares/prevenção & controle , Frutas , Vasos Retinianos/fisiologia , Verduras , Idoso , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Composição Corporal , Índice de Massa Corporal , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Dieta Saudável , Feminino , Humanos , Estilo de Vida , Luteína/sangue , Masculino , Micronutrientes/sangue , Microvasos/fisiologia , Pessoa de Meia-Idade , Estado Nutricional , Sobrepeso/sangue , Cooperação do Paciente , Fatores de Risco , Resultado do Tratamento , Triglicerídeos/sangue , Circunferência da Cintura , Zeaxantinas/sangueRESUMO
BACKGROUND: Statin prescribing and healthy lifestyles contribute to declining cardiovascular disease mortality. Recent guidelines emphasise the importance of giving lifestyle advice in association with prescribing statins but adherence to healthy lifestyle recommendations is sub-optimal. However, little is known about any change in patients' lifestyle behaviours when starting statins or of their recall of receiving advice. This study aimed to examine patients' diet and physical activity (PA) behaviours and their recall of lifestyle advice following initiation of statin prescribing in primary care. METHOD: In 12 general practices, patients with a recent initial prescription of statin therapy, were invited to participate. Those who agreed received a food diary by post, to record food consumed over 4 consecutive days and return to the researcher. We also telephoned participants to administer brief validated questionnaires to assess typical daily diet (DINE) and PA level (Godin). Using the same methods, food diaries and questionnaires were repeated 3 months later. At both times participants were asked if they had changed their behaviour or received advice about their diet or PA. RESULTS: Of 384 invited, 122 (32 %) participated; 109 (89.3 %) completed paired datasets; 50 (45.9 %) were male; their mean age was 64 years. 53.2 % (58/109) recalled receiving lifestyle advice. Of those who did, 69.0 % (40/58) reported having changed their diet or PA, compared to 31.4 % (16/51) of those who did not recall receiving advice. Initial mean daily saturated fat intake (12.9 % (SD3.5) of total energy) was higher than recommended; mean fibre intake (13.8 g/day (SD5.5)), fruit/vegetable consumption (2.7 portions/day (SD1.3)) and PA levels (Godin score 7.1 (SD13.9)) were low. Overall, although some individuals showed evidence of behaviour change, there were no significant changes in the proportions who reported high or medium fat intake (42.2 % v 49.5 %), low fibre (51.4 % v 55.0 %), or insufficient PA (80.7 % v 83.5 %) at 3-month follow-up. CONCLUSION: Whilst approximately half of our cohort recalled receiving lifestyle advice associated with statin prescribing this did not translate into significant changes in diet or PA. Further research is needed to explore gaps between people's knowledge and behaviours and determine how best to provide advice that supports behaviour change.
Assuntos
Aconselhamento Diretivo , Comportamentos Relacionados com a Saúde , Estilo de Vida Saudável , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Atenção Primária à Saúde , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Dieta , Registros de Dieta , Gorduras na Dieta/administração & dosagem , Fibras na Dieta/administração & dosagem , Prescrições de Medicamentos , Exercício Físico , Feminino , Frutas , Humanos , Masculino , Pessoa de Meia-Idade , Padrões de Prática Médica , Inquéritos e Questionários , VerdurasRESUMO
Juvenile sockeye salmon Oncorhynchus nerka that were reared and smolted in laboratory conditions were found to produce otolith daily increments, as well as a consistently visible marine-entry check formed during their transition to salt water. Field-collected O. nerka post-smolts of an equivalent age also displayed visible checks; however, microchemistry estimates of marine-entry date using Sr:Ca ratios differed from visual estimates by c. 9 days suggesting that microstructural and microchemical processes occur on different time scales.
Assuntos
Membrana dos Otólitos/crescimento & desenvolvimento , Salmão/crescimento & desenvolvimento , AnimaisRESUMO
Pregnancy and the postpartum period is a time of increased vulnerability for retention of excess body fat in women. Breastfeeding (BF) has been shown to have many health benefits for both mother and baby; however, its role in postpartum weight management is unclear. Our aim was to systematically review and critically appraise the literature published to date in relation to the impact of BF on postpartum weight change, weight retention and maternal body composition. Electronic literature searches were carried out using MEDLINE, EMBASE, PubMed, Web of Science, BIOSIS, CINAHL and British Nursing Index. The search covered publications up to 12 June 2012 and included observational studies (prospective and retrospective) carried out in BF mothers (either exclusively or as a subgroup), who were ≤ 2 years postpartum and with a body mass index (BMI) >18.5 kg m(-2), with an outcome measure of change in weight (including weight retention) and/or body composition. Thirty-seven prospective studies and eight retrospective studies were identified that met the selection criteria; studies were stratified according to study design and outcome measure. Overall, studies were heterogeneous, particularly in relation to sample size, measurement time points and in the classification of BF and postpartum weight change. The majority of studies reported little or no association between BF and weight change (n=27, 63%) or change in body composition (n=16, 89%), although this seemed to depend on the measurement time points and BF intensity. However, of the five studies that were considered to be of high methodological quality, four studies demonstrated a positive association between BF and weight change. This systematic review highlights the difficulties of examining the association between BF and weight management in observational research. Although the available evidence challenges the widely held belief that BF promotes weight loss, more robust studies are needed to reliably assess the impact of BF on postpartum weight management.
Assuntos
Aleitamento Materno , Obesidade/prevenção & controle , Período Pós-Parto , Redução de Peso , Índice de Massa Corporal , Peso Corporal , Feminino , Humanos , Gravidez , Saúde da MulherRESUMO
BACKGROUND: Epidemiologic evidence on the influence of dietary glycemic index (GI) and glycemic load (GL) on the development of obesity is limited. OBJECTIVE: This prospective study examined the associations between dietary GI and GL and changes in body composition measures during adolescence. DESIGN: In a representative sample of Northern Irish adolescents aged 12 years at baseline and 15 years at follow-up (n=426), dietary intake was assessed by a diet history interview. Body composition measures included body mass index (BMI; kg m(-2)), BMI z-score, sum of four skinfold thicknesses, percentage body fat, fat mass index (FMI; kg m(-2)) and fat-free mass index (kg m(-2)). RESULTS: After adjustment for potential confounding factors, baseline GI was associated with increased change in FMI. Mean (95% confidence interval) values of changes in FMI according to tertiles of baseline GI were 0.41 (0.25, 0.57), 0.42 (0.26, 0.58) and 0.67 (0.51, 0.83) kg m(-2), respectively (P for trend=0.03). There was no significant association of baseline GI with changes in other body composition measures (P for trend≥0.054). Conversely, baseline GL showed no association with changes in any of the measures (P for trend≥0.41). Furthermore, changes in GI or GL were not associated with changes in any of the measures (P for trend≥0.16). CONCLUSION: Dietary GI at age 12 years was independently associated with increased change in FMI between ages 12 and 15 years in a representative sample from Northern Ireland, whereas dietary GL showed no association with changes in any of the body composition measures examined.
Assuntos
Glicemia/metabolismo , Composição Corporal , Carboidratos da Dieta/metabolismo , Ingestão de Energia , Índice Glicêmico , Puberdade/metabolismo , Adolescente , Composição Corporal/fisiologia , Índice de Massa Corporal , Criança , Dieta , Feminino , Seguimentos , Humanos , Resistência à Insulina , Masculino , Irlanda do Norte , Obesidade/metabolismo , Obesidade/fisiopatologia , Obesidade/prevenção & controle , Estudos Prospectivos , Puberdade/fisiologia , Fatores de Risco , Dobras CutâneasRESUMO
UNLABELLED: Evidence suggests that increased fruit and vegetable (FV) intake may be associated with improved bone health, but there is limited evidence from intervention trials to support this. This 16-week study showed that increased FV consumption (five or more portions per day) does not have any effect on the markers of bone health in older adults. INTRODUCTION: Observational evidence suggests that increased FV consumption may be associated with improved bone health. However, there is lack of evidence from intervention trials to support this. This study examined the effect of increased FV consumption on bone markers among healthy, free-living older adults. METHODS: A randomised controlled trial was undertaken. Eighty-three participants aged 65-85 years, habitually consuming less than or equal to two portions of FV per day, were randomised to continue their normal diet or to consume five or more portions of FV per day for 16 weeks. FV were delivered to all participants each week, free of charge. Compliance was assessed at baseline and at 6, 12 and 16 weeks by diet histories and biomarkers of micronutrient status. Fasting serum bone markers (osteocalcin (OC) and C-terminal telopeptide of type 1 collagen (CTX)) were measured using enzyme-linked immunosorbent assay. RESULTS: Eighty-two participants completed the intervention. The five portions per day group showed a significantly greater change in daily FV consumption compared to the two portions per day group (p < 0.001), and this was reflected in significant increases in micronutrient status. No significant differences were evident in change in bone markers between the two portions per day group and the five portions per day group over the 16 weeks (geometric mean of week 16 to baseline ratio (95% confidence interval): OC-0.95 (0.89-1.02) and 1.04 (0.91-1.18), respectively, p = 0.25; CTX-1.06 (0.95-1.19) and 0.98 (0.90-1.06) respectively, p = 0.20). CONCLUSIONS: Increased FV consumption had no effect on bone markers in older adults. Larger intervention studies of longer duration are warranted to establish whether long-term FV consumption can benefit bone health.
Assuntos
Remodelação Óssea/fisiologia , Fenômenos Fisiológicos da Nutrição do Idoso/fisiologia , Comportamento Alimentar , Frutas , Verduras , Idoso , Antropometria/métodos , Biomarcadores/sangue , Dieta , Feminino , Humanos , Masculino , Micronutrientes/administração & dosagem , Pessoa de Meia-Idade , Estado Nutricional/fisiologia , Cooperação do PacienteRESUMO
OBJECTIVES: To examine the association between fruit and vegetable (FV) consumption and muscle strength and power in an adolescent population. METHODS: We conducted a cross-sectional analysis among 1019 boys and 998 girls, aged 12 and 15 years, who participated in The Young Hearts Project. FV consumption (excluding potatoes) was assessed by 7-d diet history. Grip strength and jump power was assessed with a dynamometer and Jump-MD meter, respectively. Associations between FV consumption and strength and power were assessed by regression modelling. RESULTS: Boys and girls with the highest FV intakes (>237.71 g/d and >267.57 g/d, respectively, based on the highest tertile) had significantly higher jump power than those with the lowest intakes (<135.09 g/d and <147.43 g/d, respectively), after adjustment for confounding factors. Although girls with the highest FV intakes had higher grip strength than those with the lowest intakes, no significant independent associations were evident between FV intake and grip strength in boys or girls. Similar findings were observed when FV were analysed separately. CONCLUSIONS: Higher FV consumption in this group of adolescents was positively associated with muscle power. There was no independent association between higher FV consumption and muscle strength. Intervention studies are required to determine whether muscle strength and power can be improved through increased FV consumption.
Assuntos
Dieta , Frutas , Força Muscular/fisiologia , Verduras , Adolescente , Antropometria , Criança , Estudos Transversais , Comportamento Alimentar , Feminino , Força da Mão/fisiologia , Humanos , Estilo de Vida , Masculino , Atividade Motora/fisiologia , Irlanda do NorteRESUMO
Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3' untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduced during the transmission of the DM allele; in one of these cases, the number was reduced to within the normal range and correlated at least with a delay in the onset of clinical signs of DM. Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome.
Assuntos
Cromossomos Humanos Par 19 , Mutação , Distrofia Miotônica/genética , Polimorfismo de Fragmento de Restrição , Sequências Repetitivas de Ácido Nucleico , Adulto , Fatores Etários , Alelos , Apolipoproteína C-II , Apolipoproteínas C/genética , Sequência de Bases , DNA/genética , DNA/isolamento & purificação , Feminino , Genes Dominantes , Haplótipos , Humanos , Masculino , Dados de Sequência Molecular , Distrofia Miotônica/fisiopatologia , Oligodesoxirribonucleotídeos , Linhagem , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Retinal vessel abnormalities are associated with cardiovascular disease risk. Widening of retinal venules is associated with increased risk of stroke while narrowing of retinal arterioles independently predicts incident hypertension, coronary heart disease and diabetes. Dietary factors are known to play an important role in cardiovascular health. However, few studies have examined the association between dietary patterns (DPs) and retinal microvascular health. OBJECTIVE: To examine the association between 'a posteriori'-derived DPs and retinal vascular caliber (RVC) in older women with a restricted lifestyle. METHODS: This was a cross-sectional study of 1233 participants (mean age: 76.3 years) from the Irish Nun Eye Study (INES). Computer-assisted software was used to measure RVC from digital eye images using standardized protocols. Dietary intake was assessed using a food frequency questionnaire (FFQ). DP analysis was performed using principal component analysis from completed FFQs. Regression models were used to assess associations between DPs and retinal vessel diameters, adjusting for age, body mass index, refraction, hypertension, diabetes mellitus, ischemic heart disease, cerebrovascular accident and fellow eye RVC. RESULTS: Two DPs were identified: a 'healthy' pattern with high factor loadings for fruit, vegetables, wholegrains and oily fish and an 'unhealthy' pattern with high factor loadings for sugar and sweets, chips, high fat dairy products and French fries. Adjusted linear regression analysis revealed that those who adhered most closely to the unhealthy DP had wider central retinal venular equivalent (CRVE) (p=0.03) and narrower central retinal arteriolar equivalent (CRAE) (p=0.01) compared to the least unhealthy DP. No independent relationship was observed between the healthy DP and RVC. CONCLUSION: In this cohort of older women with a restricted lifestyle, an unhealthy DP was independently associated with an unfavorable retinal profile, namely a widening of retinal venules and narrowing of retinal arterioles.
Assuntos
Fenômenos Fisiológicos Cardiovasculares , Dieta Saudável , Preferências Alimentares , Nível de Saúde , Vasos Retinianos/fisiologia , Idoso , Idoso de 80 Anos ou mais , Arteríolas/fisiologia , Índice de Massa Corporal , Estudos de Coortes , Estudos Transversais , Laticínios/efeitos adversos , Feminino , Frutas/efeitos adversos , Humanos , Hipertensão/fisiopatologia , Irlanda , Pessoa de Meia-Idade , Freiras , Carne Vermelha/efeitos adversos , Fatores de Risco , Inquéritos e Questionários , Verduras/efeitos adversos , Vênulas/fisiologiaRESUMO
Physical activity during the first three decades of life may increase peak bone mass and reduce future osteoporosis risk. The aim of this study was to determine the extent to which different components of physical activity may influence bone mineral status within a representative population sample of young men and women. Bone mineral density (BMD) and content (BMC) were determined at the lumbar spine and femoral neck in 242 men and 212 women, aged 20-25 years, by dual-energy X-ray absorptiometry. Physical activity was assessed by a self-report questionnaire designed to measure the frequency and duration of physical activity and its components (i.e., work, non-sports leisure, sports-related activities, and peak strain sports activities). Potential confounding factors such as height, weight, diet, and smoking habits were also assessed. In multivariate linear regression models, sports activity and peak strain sports activity undertaken by men were strongly associated with both lumbar spine BMD (beta = 0.35 [0.21, 0.49] and beta = 0.31 [0.17, 0.44], respectively) and BMC (beta = 0.33 [0.21, 0.45] and beta = 0.26 [0.14, 0.38], respectively) and femoral neck BMD (beta = 0.35 [0.21, 0.48] and beta = 0.27 [0.14, 0.40], respectively) and BMC (beta = 0.32 [0.19, 0.44] and beta = 0.29 [0.17, 0.41], respectively) (all p < 0.01), but work and non-sports leisure activities were not. In women, there were no associations between bone measurements and any component of physical activity. In models involving all subjects the gender/sports activity, but not the gender/peak strain, interaction term was statistically significant. Sports activity explained 10.4% of the observed variance in lumbar spine BMD in men, but <1% in women. These results demonstrate the importance of sports activities, especially those involving high peak strain, in determining peak bone status in young men. Failure to observe this association in women reflects their lower participation in such activities, but they may have the same capacity to benefit from these activities as men. Intervention studies are warranted to determine whether peak bone density in women can be improved by participating, during childhood and adolescence, in sports activities involving high peak strain.
Assuntos
Densidade Óssea/fisiologia , Doença da Artéria Coronariana/epidemiologia , Doença da Artéria Coronariana/prevenção & controle , Atividade Motora/fisiologia , Esportes/estatística & dados numéricos , Absorciometria de Fóton , Adolescente , Adulto , Criança , Feminino , Colo do Fêmur/diagnóstico por imagem , Humanos , Estudos Longitudinais , Vértebras Lombares/diagnóstico por imagem , Masculino , Irlanda do Norte/epidemiologia , Prevalência , Análise de Regressão , Fatores de RiscoRESUMO
Cognitive decline has a profound impact on the health and quality of life of older people and their caregivers. Exploring mechanisms to delay cognitive decline has become an urgent economic priority, given the projected changes in population demographics. Systematic reviews and meta-analyses of observational studies suggest that adherence to a Mediterranean Diet (MD) is associated with reduced cognitive decline, but such an observation needs to be tested in randomised controlled trials. Intervention evidence is currently limited, and future studies need to be adequately powered, with careful attention given to choice of participants, outcomes being assessed, study duration and strategies to achieve compliance. Alongside these studies, consideration has to be given to how best promote and encourage dietary change in older people in general, and particularly in those experiencing the early stages of cognitive decline, as there may be specific factors that need to be considered when designing lifestyle behaviour change interventions in this group.
Assuntos
Envelhecimento , Transtornos Cognitivos/prevenção & controle , Dieta Mediterrânea , Idoso , Humanos , Estilo de Vida , Metanálise como Assunto , Estudos Observacionais como Assunto , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
The mutation causing myotonic dystrophy (DM) has been identified as an amplification of an unstable trinucleotide (CTG)n repeat in over 99% of the global DM population. It is in complete linkage disequilibrium with an Alu element polymorphism within the DM kinase gene, suggesting that DM is a consequence of one or few ancestral mutations. A recent analysis utilizing this polymorphism as well as a flanking dinucleotide marker, suggested that similar to Fragile X syndrome, DM exhibited a founder effect (Imbert et al., 1993 Nature Genet. 4, 72-76). In contrast, the low reproductive fitness of individuals with congenital DM (the endpoint of genetic anticipation in myotonic dystrophy) suggests a higher rate of new mutations. We present a high resolution genetic analysis of the DM locus using PCR based assays of nine polymorphisms, spanning a physical distance of 30 kb, within and immediately flanking the DM kinase gene. The persistent complete allelic association of the DM mutation with all these polymorphisms provides further support to previous observations and suggests more strongly that the DM mutation occurred on the background of a particular haplotype in which the (CTG)n repeat became inherently unstable and therefore predisposed to amplification.
Assuntos
Haplótipos/genética , Mutação , Distrofia Miotônica/genética , Polimorfismo Genético , Sequências Repetitivas de Ácido Nucleico , Alelos , Sequência de Bases , Primers do DNA , Enzimas de Restrição do DNA , Éxons , Feminino , Síndrome do Cromossomo X Frágil/genética , Humanos , Íntrons , Masculino , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de RestriçãoRESUMO
We present the cloning and sequencing of the human gene for a novel G-protein coupled receptor (GPR4), from the critical myotonic dystrophy (DM) region on chromosome 19q13.3. The homologous porcine gene was isolated and sequenced as well. The genes of both species are intronless and contain an open reading frame encoding a protein of 362 amino acids. In human, two isoforms of GPR4 are expressed, differing in their 3' untranslated region due to the use of alternate polyadenylation signals and measuring approximately 2.8 and 1.8 kb, respectively. Northern blot analysis showed that GPR4 is widely expressed, with higher levels in kidney, heart, and especially lung, where it is at least fivefold greater than in other tissues. Sequence analysis suggests that GPR4 is a peptide receptor and shares strongest homologies with purinergic receptors and receptors for angiotensin II, platelet activating factor, thrombin, and bradykinin.
Assuntos
Cromossomos Humanos Par 19 , Receptores de Superfície Celular/genética , Receptores Acoplados a Proteínas G , Sequência de Aminoácidos , Animais , Sequência de Bases , Northern Blotting , Clonagem Molecular , Análise Mutacional de DNA , Expressão Gênica , Humanos , Dados de Sequência Molecular , Distrofia Miotônica/genética , Fases de Leitura Aberta , Glicoproteínas da Membrana de Plaquetas/química , Biossíntese de Proteínas , Receptores de Superfície Celular/isolamento & purificação , Receptores de Trombina/química , Mapeamento por Restrição , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos , Suínos , Distribuição TecidualRESUMO
As part of efforts to identify candidate genes for disease mapping to the 21q22.3 region, we have assembled a 770-kb cosmid and BAC contig containing eight tightly linked markers. These cosmids and BACs were restriction mapped using eight rare cutting enzymes, with the goal of identifying CpG-rich islands. One such island was identified by the clustering of NotI, EagI, SstII, and BssHII sites, and corresponded to the NotI linking clone LJ104 described previously. A 7.6-kb HindIII fragment containing this CpG-rich island was subcloned and partially sequenced. A homology search using the sequence obtained from either side of the NotI site identified an expressed sequence tag with homology to the yeast periodic tryptophan protein 2 (PWP2). Several cDNAs corresponding to the human PWP2 gene were identified and partially sequenced. Northern blot analysis revealed a 3.3-kb transcript that was well expressed in all tissues tested. A cDNA consensus of 3157 bp was obtained, and an open reading frame potentially encoding 919 amino acid residues was identified. The predicted protein shows 42% identity and 57% similarity at the amino acid level to the yeast PWP2 protein, which is a member of the WD-repeat containing superfamily, and potentially encodes a G-protein beta subunit. The PWP2 gene is split into 21 exons, ranging in size from 53 to 516 bp, and spans an estimated 25 kb. The gene is transcribed in a 21cen-->21qter direction, with its 5' end mapping approximately 195 kb proximal to the 5' end of the phosphofructokinase-liver isoform gene. Four single base-pair polymorphisms were identified using single-stranded conformation polymorphism analysis. Possible functions of the protein based on homology to other members of the WD-repeat-containing family are discussed.
Assuntos
Cromossomos Humanos Par 21 , Proteínas/genética , Proteínas de Saccharomyces cerevisiae , Sequência de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , DNA Complementar , Expressão Gênica , Genoma , Humanos , Dados de Sequência Molecular , Polimorfismo Genético , Polimorfismo Conformacional de Fita Simples , RNA Mensageiro , Proteínas Ribossômicas , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos , LevedurasRESUMO
The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kinase gene. A comparison of these sequences with each other and with known cDNA sequences from both species, led us to predict a translation initiation codon, as well as determine the organization of the DM kinase gene. Several polymorphisms within the human DM kinase gene have been identified, and PCR assays to detect two of these are described. The complete sequence and characterization of the structure of the DM kinase gene, as well as the identification of novel polymorphisms within the gene, represent an important step in a further understanding of the genetics of myotonic dystrophy and the molecular biology of the gene.
Assuntos
Distrofia Miotônica/genética , Proteínas Serina-Treonina Quinases/genética , Animais , Sequência de Bases , Mapeamento Cromossômico , DNA/genética , Feminino , Humanos , Masculino , Camundongos , Dados de Sequência Molecular , Distrofia Miotônica/enzimologia , Oligodesoxirribonucleotídeos/genética , Linhagem , Sequências Repetitivas de Ácido Nucleico , Homologia de Sequência do Ácido Nucleico , Especificidade da EspécieRESUMO
The Young Hearts (YH) Project is an ongoing study of biological and behavioural risk factors for cardiovascular disease in a representative sample of young people from Northern Ireland, a region of high coronary mortality. This article describes the cross-sectional clinical, dietary and lifestyle data obtained from individuals (aged 20-25 y) who participated in phase 3 of the project (YH3). A total of 489 individuals (251 males, 238 females) participated in YH3 (48.2% response rate). Some 31.1% of participants at YH3 were overweight (BMI >25 kg/m(2)) with 4.4% of males and 8.0% of females were obese (BMI >30 kg/m(2)). More females than males had a very poor fitness (55.0 vs 22.1%, chi-squared 51.70, d.f. 1, P<0.001) and did not participate in any sporting or exercise activity (38.4 vs 24.9%, chi-squared 10.26, d.f. 1, P=0.001). Over 20% of participants had a raised total serum cholesterol (>5.2 mmol/l). More females had a raised serum LDL-cholesterol (>3.0 mmol/l) than males (44.6 vs 34.6%, chi-squared 4.39, d.f. 1, P<0.05). Over 46% of participants reported energy intakes from fat above recommended levels, and 68.5% of participants had saturated fat intakes above those recommended (Dietary reference values for food energy and nutrients for the United Kingdom. HMSO: London, 1991). Just over half of the study population reported alcohol intakes in excess of recommended sensible limits set by the Royal College of Physicians (A great and growing evil: the medical consequences of alcohol abuse. Tavistock: London, 1987), with 36.7% of males and 13.4% of females reporting intakes over twice these recommended limits. A total of 37% of the study population smoked. During young adulthood, individuals may be less amenable to attend a health-related study and recruitment of participants to the current phase of the study proved a major problem. However, these data constitute a unique developmental record from adolescence to young adulthood in a cohort from Northern Ireland and provide additional information on the impact of early life, childhood and young adulthood on the development of risk for chronic disease.
Assuntos
Doenças Cardiovasculares/epidemiologia , Comportamentos Relacionados com a Saúde , Indicadores Básicos de Saúde , Estilo de Vida , Aptidão Física , Adolescente , Comportamento do Adolescente , Adulto , Consumo de Bebidas Alcoólicas , Índice de Massa Corporal , Doenças Cardiovasculares/etiologia , Colesterol/sangue , Colesterol/classificação , Estudos Transversais , Ingestão de Energia , Feminino , Humanos , Estudos Longitudinais , Masculino , Irlanda do Norte/epidemiologia , Fatores de RiscoRESUMO
Optimizing peak bone mass in early life may reduce osteoporosis risk in later life. Such optimization may be partly dependent upon diet. In the present study, nutrient intakes and selected lifestyle parameters were assessed in adolescent subjects (238 males, 205 females; aged 15 y) and again, in the same subjects, on one occasion in young adulthood (aged between 20 and 25 y). The extent of the relationships between these parameters and bone mineral density (BMD), dual energy X-ray absorptiometry (DXA), lumbar spine (L2-L4), and femoral neck measured concurrently with diet in young adulthood only, was assessed. Adjusted linear regression models were constructed. Variables included a measure of pubertal status (at age 15 y), age (at young adulthood), height, weight, physical activity, smoking, and mean daily intakes of energy, calcium, protein, vitamin D, phosphorus, total fat, and alcohol. In both sexes, body weight at adolescence and young adulthood was the only factor consistently positively associated with BMD at both measurement sites. Effects of nutrient intake on BMD were inconsistent. Vitamin D and calcium intakes reported by female adolescents showed significant positive relationships with BMD measured in young adulthood (vitamin D measured at the lumbar spine; calcium measured at the femoral neck). The positive relationship between vitamin D and BMD remained significant at young adulthood, but at the femoral neck rather than at the lumbar spine. Also in females, intakes of phosphorus and the calcium:phosphorus ratio (Ca:P) at adolescence were strongly negatively related to femoral neck BMD measured at young adulthood. In males, however, Ca:P reported at young adulthood had a significant positive relationship with lumbar spine BMD, whereas Ca:protein was negatively associated with BMD at the lumbar spine. Intakes of Ca reported by adolescent males also had a strong negative effect on lumbar spine BMD measured at young adulthood.