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1.
Scand J Psychol ; 2019 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-31498898

RESUMO

Obesity is a major public health problem. Children of women who were obese before or during pregnancy are at increased risk for neurobehavioral developmental problems. Whether a maternal lifestyle intervention conducted before and during pregnancy in obese women affects child neurobehavioral development is unknown. This study reports on the follow-up of a subsample of two randomized controlled trials, the Finnish RADIEL (n = 216) and Dutch LIFEstyle (n = 305) trial. Women with a pre-pregnancy BMI ≥29 kg/m2 wishing to conceive or who were already pregnant (<20 weeks) were allocated to a lifestyle intervention or to care as usual. Child neurodevelopment was measured with the Ages and Stages Questionnaire and child behavioral problems were measured with the Childhood Behavior Checklist (RADIEL) or the Strengths and Difficulties Questionnaire (LIFEstyle) at age 3-6 years. We used linear and binary logistic regression analyses to assess the effects of the lifestyle interventions on children's neurobehavioral developmental scores. Follow-up data was available from 161(38%) RADIEL and 96(32%) LIFEstyle children. Child neurodevelopmental scores did not differ significantly between children in the intervention and the control group (RADIEL:median = 275 vs. 280; LIFEstyle:median = 270 vs 267). Child behavioral problem scores did not differ significantly between children in the intervention and the control group (RADIEL:median = 22 vs. 21; LIFEstyle:median = 8 vs. 8). We did not observe considerable effects of the lifestyle interventions before or during pregnancy in obese women on child neurobehavioral development. With our sample sizes, we were not able to detect subtle differences in neurobehavioral development however.

2.
Br J Nutr ; : 1-25, 2019 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-31477198

RESUMO

Consumption of sugar sweetened beverages (SSBs) in infants and young children are less explored in Asian populations. The Growing in Singapore Towards healthy Outcomes (GUSTO) cohort study examined associations between SSB intakes at ages 18 months and 5 years with adiposity measures at age 6 years. We studied Singaporean infants/children with SSB intake assessed by food frequency questionnaires (FFQ) at ages 18 months (n=555) and 5 years (n=767). The median (interquartile range) for SSB intakes is 28(5.5-98) ml at age 18 months and 111 (57-198) ml at age 5 years. Associations between SSB intakes (100 ml/day increments and tertile categories) and adiposity measures (BMI standard deviation scores (s.d. unit), sum of skinfolds (SSFs)) and overweight/obesity status were examined using multivariable linear and Poisson regression models, respectively. After adjusting for confounders and additionally for energy intake, SSB intakes at age 18 months were not significantly associated with later adiposity measures and overweight/obesity outcomes. In contrast, at age 5 years, SSB intakes when modelled as 100ml/day increments were associated with higher BMI by 0.09 (95% CI: 0.02, 0.16) s.d. unit, higher SSF thickness by 0.68 (0.06, 1.44) mm, and increased risk for overweight/obesity by 1.2 times (1.07, 1.23) at age 6 years. Trends were consistent with SSB intakes modelled as categorical tertiles. In summary, SSB intake in young childhood is associated with higher risks of adiposity and risk for overweight/obesity. Public health policies working to reduce SSB consumption need to focus on prevention programs targeted at young children.

3.
Mech Ageing Dev ; 183: 111145, 2019 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-31491428

RESUMO

Telomere length has been suggested a biomarker of aging and is associated with several chronic diseases. However, the association between telomere length and physical performance is not well known. Using both cross-sectional and longitudinal data, we studied 582 women and 453 men from the Helsinki Birth Cohort Study at two time-points; a baseline examination in 2001-2004 at a mean age of 61 years and a follow-up examination approximately 10 years later in 2011-2013. Telomere length was measured both at baseline and at follow-up using real-time quantitative polymerase chain reaction. Physical performance was evaluated only at follow-up using the Senior Fitness Test (SFT), which assesses strength, flexibility and endurance. In women, shorter telomere length at follow-up (p = 0.044) and greater telomere attrition during follow-up time (p = 0.022) were associated with poorer physical performance after adjusting for covariates (age at baseline, smoking status, body mass index at baseline, follow-up time and educational attainment). No similar associations were found for men. This indicates that, at least in women, telomere length could potentially be used as a biomarker for physical performance, however, more longitudinal studies are needed to confirm this association.

4.
Int J Behav Nutr Phys Act ; 16(1): 70, 2019 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-31438965

RESUMO

PURPOSE: Integrated 24-Hour Movement Guidelines provide specific recommendations on screen viewing (SV), moderate-to-vigorous physical activity (MVPA) and sleep to improve health of children and youth. However, few studies have examined whether these guidelines are met in young children, particularly in Asia. We evaluated adherence to integrated and individual guidelines and its predictors in 5.5-year-old Singaporean children. METHODS: Growing Up in Singapore towards Healthy Outcomes (GUSTO) is a mother-offspring birth cohort study. At age 5.5 years, child SV was reported by parents. Movement behaviours (MBs) were measured continuously using wrist-worn accelerometers over 7 consecutive days and nights. For accelerometer data including ≥3 days with ≥16 h/day we estimated mean (±SD) daily MVPA, SV and nighttime sleep duration across the week. Adherence to integrated (Canadian/Australian) guidelines was defined as meeting all individual guidelines: ≥60 min of MVPA/day, ≤2 h of screen time/day, and 9-11 h of sleep/night. Socio-demographic and maternal predictors collected at pregnancy enrolment and at 26-28 weeks' gestation were examined by multivariable logistic regression. RESULTS: Of 864 children followed up age 5.5 years, 547 (63.3%) had both valid ActiGraph and questionnaire data (51.7% boys and 58.3% Chinese ethnicity). Children averaged 101.9 (± 88.7) min/day SV, 67.3 (± 23.7) min/day MVPA and 480.6 (± 57.2) min/night sleep. Few children met integrated guidelines. Specifically, the proportions of children who met none, SV, MVPA, sleep and integrated guidelines were 11.2, 70.2, 59.6, 13.7 and 5.5%, respectively. Multivariable analysis showed that maternal activity and television (TV) viewing were associated with meeting integrated guidelines (insufficiently vs. highly active (OR [95% CI]): 0.11 [0.01, 0.95]; 2-3 vs. ≥ 3 h TV: 3.52 [1.02, 12.22]). Examining higher adherence to individual guidelines, Chinese ethnicity, younger maternal age and lower maternal TV and sleep time were associated with greater SV; male sex, Malay ethnicity, higher birth order and higher maternal activity level were associated with greater MVPA; and older maternal age was associated with adherence to sleep guideline. CONCLUSIONS: Beyond individual behaviours, consideration of the full spectrum of MBs may be important to improve children's health. However, few Singaporean children adhere to integrated 24-h movement guidelines. Maternal behaviours as early as during pregnancy could be important targets for future interventions aiming to promote these MBs in children.

5.
Am J Hum Genet ; 105(2): 334-350, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31374203

RESUMO

Susceptibility to schizophrenia is inversely correlated with general cognitive ability at both the phenotypic and the genetic level. Paradoxically, a modest but consistent positive genetic correlation has been reported between schizophrenia and educational attainment, despite the strong positive genetic correlation between cognitive ability and educational attainment. Here we leverage published genome-wide association studies (GWASs) in cognitive ability, education, and schizophrenia to parse biological mechanisms underlying these results. Association analysis based on subsets (ASSET), a pleiotropic meta-analytic technique, allowed jointly associated loci to be identified and characterized. Specifically, we identified subsets of variants associated in the expected ("concordant") direction across all three phenotypes (i.e., greater risk for schizophrenia, lower cognitive ability, and lower educational attainment); these were contrasted with variants that demonstrated the counterintuitive ("discordant") relationship between education and schizophrenia (i.e., greater risk for schizophrenia and higher educational attainment). ASSET analysis revealed 235 independent loci associated with cognitive ability, education, and/or schizophrenia at p < 5 × 10-8. Pleiotropic analysis successfully identified more than 100 loci that were not significant in the input GWASs. Many of these have been validated by larger, more recent single-phenotype GWASs. Leveraging the joint genetic correlations of cognitive ability, education, and schizophrenia, we were able to dissociate two distinct biological mechanisms-early neurodevelopmental pathways that characterize concordant allelic variation and adulthood synaptic pruning pathways-that were linked to the paradoxical positive genetic association between education and schizophrenia. Furthermore, genetic correlation analyses revealed that these mechanisms contribute not only to the etiopathogenesis of schizophrenia but also to the broader biological dimensions implicated in both general health outcomes and psychiatric illness.

6.
Nature ; 572(7769): 323-328, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31367044

RESUMO

Exome-sequencing studies have generally been underpowered to identify deleterious alleles with a large effect on complex traits as such alleles are mostly rare. Because the population of northern and eastern Finland has expanded considerably and in isolation following a series of bottlenecks, individuals of these populations have numerous deleterious alleles at a relatively high frequency. Here, using exome sequencing of nearly 20,000 individuals from these regions, we investigate the role of rare coding variants in clinically relevant quantitative cardiometabolic traits. Exome-wide association studies for 64 quantitative traits identified 26 newly associated deleterious alleles. Of these 26 alleles, 19 are either unique to or more than 20 times more frequent in Finnish individuals than in other Europeans and show geographical clustering comparable to Mendelian disease mutations that are characteristic of the Finnish population. We estimate that sequencing studies of populations without this unique history would require hundreds of thousands to millions of participants to achieve comparable association power.

7.
J Pediatr ; 2019 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-31399247

RESUMO

OBJECTIVE: To evaluate postexercise heart rate recovery (HRR) in adults born preterm. STUDY DESIGN: We studied the association between preterm birth and postexercise HRR in 545 adults (267 women) at 23.3 years of age (range 19.9-26.3 years). One hundred three participants were born early preterm (<34 completed weeks), 178 late preterm (34-36), and 264 were full term (control group). HRR was calculated as change in heart rate (HR) 30 seconds and 60 seconds after cessation of submaximal step test and maximum HR slope during the first minute after. RESULTS: Mean peak HR was 159.5 bpm in the early preterm (P = .16 with controls), 157.8 bpm in the late preterm (P = .56), and 157.0 bpm in the control group. Mean HRR 30 seconds after exercise was 3.2 bpm (95% CI 1.1-5.2) lower in the early preterm group and 2.1 bpm (0.3-3.8) lower in the late preterm group than the full term controls. Mean 60s HRR was 2.5 (-0.1 to 5.1) lower in the early preterm group and 2.8 bpm (0.6-4.9) lower in the late preterm group. Mean maximum slope after exercise was 0.10 beats/s (0.02-0.17) lower in the early preterm group and 0.06 beats/s (0.00-0.12) lower in the late preterm group. CONCLUSIONS: Our results suggest reduced HRR after exercise in adults born preterm, including those born late preterm. This suggests altered reactivation of the parasympathetic nervous system, which may contribute to cardiovascular risk among adults born preterm.

8.
Sci Rep ; 9(1): 9439, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31263163

RESUMO

Type 2 diabetes (T2D) affects the health of millions of people worldwide. The identification of genetic determinants associated with changes in glycemia over time might illuminate biological features that precede the development of T2D. Here we conducted a genome-wide association study of longitudinal fasting glucose changes in up to 13,807 non-diabetic individuals of European descent from nine cohorts. Fasting glucose change over time was defined as the slope of the line defined by multiple fasting glucose measurements obtained over up to 14 years of observation. We tested for associations of genetic variants with inverse-normal transformed fasting glucose change over time adjusting for age at baseline, sex, and principal components of genetic variation. We found no genome-wide significant association (P < 5 × 10-8) with fasting glucose change over time. Seven loci previously associated with T2D, fasting glucose or HbA1c were nominally (P < 0.05) associated with fasting glucose change over time. Limited power influences unambiguous interpretation, but these data suggest that genetic effects on fasting glucose change over time are likely to be small. A public version of the data provides a genomic resource to combine with future studies to evaluate shared genetic links with T2D and other metabolic risk traits.

10.
Pharmacoepidemiol Drug Saf ; 28(9): 1239-1245, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31286617

RESUMO

PURPOSE: To evaluate the use of opioids in pregnant primiparous women and study the effect of opioid use on maternal and offspring delivery outcomes. METHODS: The study cohort (N = 6231) consists of all primiparous women with a Finnish background who delivered a singleton between 2009 and 2015 in the city of Vantaa, Finland. Data on births, maternal characteristics, pregnancy outcomes, and purchases of prescription drugs were obtained from National Health Registers. RESULTS: Of the primiparous women, 5.1% used opioids during pregnancy. Of these, 95.9% used codeine. No differences were observed in purchases of opioids between the different trimesters but more women purchased opioids as pregnancy progressed (.002). Users of opioids more often also purchased other prescription drugs compared with non-users of opioids, 89% versus 58% (P < .001); age, smoking, education, and body mass index adjusted odds ratio 5.66 (95% confidence interval 3.96 to 8.09). Caesarean sections were more common in users of opioids than in non-users, 28.3% versus 21.9% (.007). Before the age of 7 days, the offspring of users of opioids more often needed respirator treatment compared with the offspring of non-users, 3.1% versus 1.6% (.044). CONCLUSIONS: One out of 20 pregnant women used opioids. Use of opioids during pregnancy was associated with the risk for deliveries by caesarean sections and need for respiratory treatment among the offspring during the first week of life. Further safety evaluations are needed.

11.
Scand J Public Health ; : 1403494819854008, 2019 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-31200627

RESUMO

Aims: Homelessness is associated with poor health outcomes and increased use of hospital and emergency department (ED) services. Little is known about the duration of homelessness in relation to health care service use. The aim of this study was to examine the use of hospital and ED services among the homeless in Helsinki, Finland, and for the first time, to examine the relationship between service use and duration of homelessness. Methods: Six hundred and eighty-three persons staying at least one night in a shelter between September 2009 and September 2010 were followed until the end of 2014. Using negative binominal regression analysis we calculated the use of hospital and ED services and compared the use with that of a matched control group (N = 1361). We also analyzed service use in relation to the time spent homeless during follow-up. Results: The mean time spent homeless during the follow-up was 8.5 months, one third was temporarily homeless (less than 2% of the follow-up time), but recurrent episodes of homelessness were also common. The study group's incidence rate ratios for medical-surgical hospital days was 6.23 (95% CI: 4.73 to 8.21), for psychiatric hospital days 43.11 (95% CI: 23.02 to 80.74) and for ED visits 10.21 (95% CI: 8.77 to 11.90), compared with controls. The number of medical-surgical hospital days and ED visits/person-year increased as homelessness was prolonged, but the pattern was opposite for psychiatric hospital days. Conclusions: Homeless persons are heavy users of hospital and ED services, and there is also increased use among those temporarily homeless.

12.
Artigo em Inglês | MEDLINE | ID: mdl-31206811

RESUMO

The aim of the study was to examine the association between change in leisure-time physical activity (LTPA) and change in health-related quality of life (HRQoL) and symptoms of depression during a 10-year follow-up. This prospective study included 1036 men and women (mean age at baseline = 61.2 years) from the Helsinki Birth Cohort Study. Leisure-time physical activity was measured with a questionnaire, HRQoL with SF36 and depression symptoms with Beck's depression inventory (BDI). The association between the change in LTPA and change in HRQoL and BDI were investigated with sex-stratified general linear models adjusted for age, smoking, educational attainment, comorbidity score, and baseline value of outcomes. One standard deviation (SD) increase in LTPA was associated with increase in physical summary component of HRQoL in women (B = 0.7 unit, 95% CI = 0.1-1.3, P = 0.032) and in men (B = 0.8 unit, 95% CI = 0.2-1.5, P = 0.014). In women, the 1SD increase in LTPA was also associated with an increase in mental summary component score (B = 1.0, 95% CI = 0.3-1.7, P = 0.005) and a reduction in depressive symptoms (B = -0.7, 95% CI = -1.1 to -0.2, P = 0.003). In conclusion, increase in the volume of LTPA over a 10-year period in late adulthood was associated with improved HRQoL in both men and women, and also diminished depressive symptoms in women. The findings support the promotion of physical activity in later years to enhance HRQoL and mental well-being.

13.
Proc Natl Acad Sci U S A ; 116(23): 11370-11379, 2019 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-31113877

RESUMO

Aging and psychosocial stress are associated with increased inflammation and disease risk, but the underlying molecular mechanisms are unclear. Because both aging and stress are also associated with lasting epigenetic changes, a plausible hypothesis is that stress along the lifespan could confer disease risk through epigenetic effects on molecules involved in inflammatory processes. Here, by combining large-scale analyses in human cohorts with experiments in cells, we report that FKBP5, a protein implicated in stress physiology, contributes to these relations. Across independent human cohorts (total n > 3,000), aging synergized with stress-related phenotypes, measured with childhood trauma and major depression questionnaires, to epigenetically up-regulate FKBP5 expression. These age/stress-related epigenetic effects were recapitulated in a cellular model of replicative senescence, whereby we exposed replicating human fibroblasts to stress (glucocorticoid) hormones. Unbiased genome-wide analyses in human blood linked higher FKBP5 mRNA with a proinflammatory profile and altered NF-κB-related gene networks. Accordingly, experiments in immune cells showed that higher FKBP5 promotes inflammation by strengthening the interactions of NF-κB regulatory kinases, whereas opposing FKBP5 either by genetic deletion (CRISPR/Cas9-mediated) or selective pharmacological inhibition prevented the effects on NF-κB. Further, the age/stress-related epigenetic signature enhanced FKBP5 response to NF-κB through a positive feedback loop and was present in individuals with a history of acute myocardial infarction, a disease state linked to peripheral inflammation. These findings suggest that aging/stress-driven FKBP5-NF-κB signaling mediates inflammation, potentially contributing to cardiovascular risk, and may thus point to novel biomarker and treatment possibilities.

14.
Artigo em Inglês | MEDLINE | ID: mdl-31095700

RESUMO

Circulating amino acids are potential markers of body composition. Previous studies are mainly limited to middle age and focus on either fat or lean mass, thereby ignoring overall body composition. We investigated the associations of fat and lean body mass with circulating amino acids in older men and women. We studied 594 women and 476 men from the Helsinki Birth Cohort Study (age 62-74 years). Bioelectrical impedance analysis was used to indicate two main body compartments by fat (fat mass/height2) and lean mass indices (lean mass/height2), dichotomized based on sex-specific medians. Eight serum amino acids were quantified using nuclear magnetic resonance spectroscopy. General linear models were adjusted for age, smoking and fasting glucose. Higher lean mass index was associated with higher concentrations of branched-chain amino acids in both sexes (p≤0.001). In men, lean mass index was also positively associated with tyrosine (p=0.006) and inversely with glycine (p<0.001). Higher fat mass index was associated with higher concentrations of all branched-chain amino acids, aromatic amino acids (phenylalanine and tyrosine), and alanine in both sexes (p≤0.008). Associations between body composition and amino acids are largely similar in older men and women. The associations are largely similar to those previously observed in younger adults.

15.
Int J Circumpolar Health ; 78(1): 1611328, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31043135

RESUMO

Dog ownership has been reported to have beneficial effects on physical activity and emotional well-being, both known to reduce the risk for type 2 diabetes (T2D). The aim of this study was to evaluate the association between dog ownership during the whole life course and having T2D in later life. The study subjects consisted of 731 people (307 men and 424 women) from the Helsinki Birth Cohort Study. We assessed dog ownership with questionnaires, for every decade of life as well as current dog ownership. We investigated the associations between dog ownership and T2D with generalised estimating equation models and with generalised linear models. At a mean age of 71.0 (standard deviation [SD] 2.6) years, 13% of the participants had T2D. Dog ownership prior to the clinical examination was not associated with T2D (p ≥ 0.51). In men, but not in women, current dog owners had greater odds of having T2D compared with the non-owners when adjusted for age when clinically examined, socio-economic status, smoking, leisure-time physical activity, chronic diseases (OR = 3.32, 95% confidence interval 1.25-8.79, p = 0.016). In the age group of people around 70 years, dog ownership is not associated with reduced odds for developing T2D. Abbreviations: BMI: body mass index; CI: confidence interval; GEE: generalised estimating equation; HBCS: Helsinki Birth Cohort Study; KIHD: Kuopio Ischemic Heart Disease; LTPA: leisure-time physical activity; MET: metabolic equivalent of task; OGTT: oral glucose tolerance test; OR: Odds ratio; SD: standard deviation; SES: socio-economic status; T2D: type 2 diabetes.

16.
BMJ Open ; 9(5): e026280, 2019 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-31101697

RESUMO

OBJECTIVES: To examine the relationships of late-career physical heaviness of work and sitting at work with mortality. A national-level job exposure matrix was used to determine the occupation-specific level of physical heaviness and sitting. DESIGN: Prospective cohort study between years 1990 and 2015. SETTING: Community. PARTICIPANTS: 5210 men and 4725 women from the Helsinki Birth Cohort Study with an occupational code at baseline (ages 45-57 years). PRIMARY AND SECONDARY OUTCOME MEASURES: Total, cardiovascular (International Classification of Diseases 10th Revision I00-I99), cancer (C00-C97) and external (S00-Y84) mortality. RESULTS: The exposures, physical heaviness and sitting had a non-linear, inverse relationship. During the 26-year follow-up, 1536 men and 759 women died. Among men, physical heaviness of work was positively associated and sitting at work was negatively associated with all-cause, cardiovascular and external cause mortality but they were not associated with cancer mortality. The HRs for men in the highest quartile of physical heaviness of work compared with men in the lowest quartile were 1.54 (1.31-1.80) for all-cause mortality, 1.70 (1.30-2.23) for cardiovascular mortality and 3.18 (1.75-5.78) for external cause mortality (adjusted for age and years of education). Compared with the lowest quartile, the HRs for the highest quartile of sitting at work among men were 0.71 (0.61-0.82) for all-cause mortality, 0.59 (0.45-0.77) for cardiovascular mortality and 0.38 (0.22-0.66) for external cause mortality. In women, neither physical heaviness of work nor sitting at work was associated with mortality. CONCLUSIONS: Men in physically heavy work at their late-work career are at higher risk of death than men in physically light work.

17.
Nat Commun ; 10(1): 2154, 2019 05 14.
Artigo em Inglês | MEDLINE | ID: mdl-31089142

RESUMO

Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.


Assuntos
Neoplasias Colorretais/genética , Loci Gênicos , Predisposição Genética para Doença , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Neoplasias Colorretais/patologia , Conjuntos de Dados como Assunto , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Estudo de Associação Genômica Ampla , Humanos , Padrões de Herança , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Risco
18.
Neurobiol Aging ; 2019 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-30979436

RESUMO

The hexanucleotide repeat expansion in C9orf72 is a common cause of amyotrophic lateral sclerosis/frontotemporal dementia and also rarely found in other psychiatric and neurodegenerative conditions. Alleles with >30 repeats are often considered an expansion, but the pathogenic repeat length threshold is still unclear. It is also unclear whether intermediate repeat length alleles (often defined either as 7-30 or 20-30 repeats) have clinically significant effects. We determined the C9orf72 repeat length distribution in 3142 older Finns (aged 60-104 years). The longest nonexpanded allele was 45 repeats. We found 7-45 repeats in 1036/3142 (33%) individuals, 20-45 repeats in 56/3142 (1.8%), 30-45 repeats in 12/3142 (0.38%), and expansion (>45 repeats) in 6/3142 (0.19%). There was no apparent clustering of neurodegenerative or psychiatric diseases in individuals with 30-45 repeats indicating that 30-45 repeats are not pathogenic. None of the 6 expansion carriers had a diagnosis of amyotrophic lateral sclerosis/frontotemporal dementia but 4 had a diagnosis of a neurodegenerative or psychiatric disease. Intermediate length alleles (categorized as 7-45 and 20-45 repeats) did not associate with Alzheimer's disease or cognitive impairment.

19.
Prim Care Diabetes ; 13(5): 468-473, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30928432

RESUMO

AIM: Previous study findings have shown that more frequent contacts with the diabetes care team predict better diabetes control. It is unknown whether this is true also for previous dropouts with type 2 diabetes (T2D). The aim of this study was to evaluate if those previous dropouts with T2D who succeeded to improve their glycaemic control had more frequent contacts with health care professionals in the public primary diabetes health care system than those dropouts who did not show improvement. METHODS: In this "real life" retrospective cohort study, we identified 115 dropouts with T2D who were contacted by trained diabetes nurses and who returned to a public T2D-care system. Those previous dropouts who had baseline haemoglobin A1c ≥53mmol/mol (7%) and had a reduction in HbA1c≥6mmol/mol (0.5%) during the follow-up were compared with those with unsatisfactory change in HbA1c (baseline HbA1c≥53mmol/mol and change <6mmol/mol, or HbA1c<53mmol/mol at the baseline measurement but above that in the end of the study period) or with those who remained at good glycaemic control over the study period. Trained diabetes nurses collected quantitative data from the patient records about visits and contacts during the follow-up. RESULTS: Previous dropouts showing improvement had more visits to the diabetes nurse (p=0.003) and other nurses (p<0.001) than those with no improvement or those with satisfactory glycaemic control. Telephone calls not focusing on diabetes (p<0.001) were also more frequent among previous dropouts with improvement than among the others. CONCLUSIONS: Especially previous dropouts with T2D who had poor glycaemic control, may benefit from more frequent contacts including visits and telephone calls. Recalling dropouts does not seem to lead to overuse of the T2D care-system by those recalled patients whose glycaemic control does not require special care.

20.
J Clin Endocrinol Metab ; 104(7): 2785-2795, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-30835282

RESUMO

CONTEXT: Maternal gestational diabetes mellitus (GDM) and prepregnancy overweight/obesity [body mass index (BMI) ≥25 kg/m2] might adversely affect offspring cardiometabolic health. OBJECTIVE: To assess the associations between maternal GDM and prepregnancy overweight/obesity with adult offspring cardiometabolic risk factors. DESIGN: Longitudinal cohort study (ESTER Maternal Pregnancy Disorders Study and the Arvo Ylppö Longitudinal Study). SETTING: Province of Uusimaa and Northern Finland. PARTICIPANTS: At a mean age of 24.1 ± 1.3 years, we classified offspring as offspring of mothers with GDM regardless of the prepregnancy BMI (OGDM; n = 193); normoglycemic mothers with prepregnancy overweight/obesity (ONO; n = 157); and normoglycemic mothers with prepregnancy BMI <25 kg/m2 (controls; n = 556). MAIN OUTCOME MEASURES: We assessed the cardiometabolic biomarkers from blood and measured the blood pressure at rest and heart rate. RESULTS: Compared with the controls, the OGDM and ONO groups had greater fasting glucose (1.6%; 95% CI, 0.1% to 3.1%; and 2.3%; 95% CI, 0.5% to 4.3%, respectively) and insulin (12.7%; 95% CI, 4.4% to 21.9%; and 8.7%; 95% CI, 0.2% to 17.8%). These differences attenuated to nonsignificance when adjusted for confounders and/or current offspring characteristics, including BMI or body fat percentage. The OGDM group had lower SHBG (men, -12.4%; 95% CI, -20.2% to -3.9%; women, -33.2%; 95% CI, -46.3% to -16.8%), high-density lipoprotein (-6.6%; 95% CI, -10.9% to -2.2%), and apolipoprotein A1 (-4.5%; 95% CI, -7.5% to -1.4%). These differences survived the adjustments. The heart rate and other biomarkers were similar among the groups. CONCLUSIONS: Adult offspring of mothers with GDM have increased markers of insulin resistance and a more atherogenic lipid profile. These were only partly explained by confounders or current offspring adiposity. Maternal prepregnancy overweight/obesity was associated with impaired offspring glucose regulation, which was explained by confounders and/or current adiposity.

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