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1.
Strahlenther Onkol ; 2023 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-37638976

RESUMEN

PURPOSE: Demographic change will lead to an increase in age-associated cancers. The demand for primary treatment, especially oncologic therapies, is difficult to predict. This work is an attempt to project the demand for radiation therapy (RT) in 2030, taking into account demographic changes using prostate cancer (PC) as an example. MATERIALS AND METHODS: Using the GENESIS database of the Federal Statistical Office, we retrieved demographic population projections for 2030 and retrospective demographic surveys from 1999 to 2019. Additionally, we queried incidence rates for PC in the respective age groups of 50-54, 55-59, 60-64, 65-69, 70-74, 75-79, 80-84, and +85 years from 1999-2019 via the Federal Cancer Registry of the Robert Koch Institute. We used a regression method to determine the age-dependent correlation between the incidence of PC and the population size of the respective age group by combining the data from 1999 to 2019. This information was used to calculate the incidence rates in the age groups of the expected population for 2030 and the expected new cases of PC in 2030. Finally, we extrapolated the indications for the demand for RT based on data from the Report on Cancer Incidence in Germany from 2016. RESULTS: Considering a population-dependent incidence rate, an increase in new cases of PC is expected. This increase is particularly evident in the age groups of 70-74 and 80-84 years. With regards to RT, the estimate indicates an overall increase of 27.4% in demand. There is also a shift in RT demands towards older patients, especially in the 80- to 84-year-old age group. CONCLUSION: We observe an age-associated increase in primary cases of PC. This is likely to result in an increased demand for RT. The exact demand cannot be predicted. However, trends can be estimated to plan for the demand. This, though, requires a good database from cancer registries.

2.
Int Psychogeriatr ; 34(2): 113-128, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-33715653

RESUMEN

OBJECTIVE: There is growing evidence that people with mild dementia can benefit from using tablets and apps. Due to their cognitive decline, people with dementia need support in learning how to use these devices. The objective of this review was to identify which training interventions work best to help people with mild dementia (re)learn how to use technologies, including handheld touchscreen devices. Because the uptake of these devices in people with dementia is quite new, training interventions for the use of other technologies were also included, such as technologies assisting people in Instrumental Activities of Daily Living (IADL). DESIGN: An electronic search was conducted in the following databases: PubMed, APA PsycInfo (EBSCO), and CINAHL (EBSCO). Themes discussed include the learning effects; training method (e.g. errorful (EF) and errorless (EL) learning); training intensity and setting; technology task type; dementia type and severity; and study design and outcome measures. RESULTS: In total, 16 studies were included. All studies reported positive learning effects and improved task performance in people with dementia, regardless of dementia severity, training intensity, setting, and the method used. Although the EL training method was successful more often than the EF training method, it would be inappropriate to conclude that the EL method is more effective, because the majority of studies only investigated EL training interventions with (multiple) single-case study designs. CONCLUSION: Future research should consider using more robust study designs, such as RCTs, to evaluate the effectiveness of training interventions for (re)learning technology-orientated tasks, including operating handheld touchscreen devices.


Asunto(s)
Disfunción Cognitiva , Demencia , Actividades Cotidianas , Humanos , Aprendizaje , Tecnología
3.
Int J Obes (Lond) ; 42(3): 384-390, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29381148

RESUMEN

OBJECTIVE: Body mass index (BMI) is commonly used to assess obesity, which is associated with numerous diseases and negative health outcomes. BMI has been shown to be a heritable, polygenic trait, with close to 100 loci previously identified and replicated in multiple populations. We aim to replicate known BMI loci and identify novel associations in a trans-ethnic study population. SUBJECTS: Using eligible participants from the Population Architecture using Genomics and Epidemiology consortium, we conducted a trans-ethnic meta-analysis of 102 514 African Americans, Hispanics, Asian/Native Hawaiian, Native Americans and European Americans. Participants were genotyped on over 200 000 SNPs on the Illumina Metabochip custom array, or imputed into the 1000 Genomes Project (Phase I). Linear regression of the natural log of BMI, adjusting for age, sex, study site (if applicable), and ancestry principal components, was conducted for each race/ethnicity within each study cohort. Race/ethnicity-specific, and combined meta-analyses used fixed-effects models. RESULTS: We replicated 15 of 21 BMI loci included on the Metabochip, and identified two novel BMI loci at 1q41 (rs2820436) and 2q31.1 (rs10930502) at the Metabochip-wide significance threshold (P<2.5 × 10-7). Bioinformatic functional investigation of SNPs at these loci suggests a possible impact on pathways that regulate metabolism and adipose tissue. CONCLUSION: Conducting studies in genetically diverse populations continues to be a valuable strategy for replicating known loci and uncovering novel BMI associations.


Asunto(s)
Índice de Masa Corporal , Grupos Raciales/genética , Grupos Raciales/estadística & datos numéricos , Estudio de Asociación del Genoma Completo , Genómica , Humanos , Polimorfismo de Nucleótido Simple/genética
4.
BMC Geriatr ; 18(1): 237, 2018 10 04.
Artículo en Inglés | MEDLINE | ID: mdl-30286714

RESUMEN

BACKGROUND: This process evaluation article describes the lessons learned from a failed trial which aimed to assess effectiveness of the tailor-made, multidisciplinary Social Fitness Programme to improve social participation of community-dwelling older people with cognitive problems (clients) and their caregivers (couples). METHODS: A process evaluation was performed to get insight in 1) the implementation of the intervention, 2) the context of intervention delivery from professionals' point of view, and 3) the potential impact of intervention delivery from participants' perspectives. Data was gathered using mixed-methods: questionnaires, focus group discussions, interviews, medical records. RESULTS: 1) Implementation. High study decline (65,3%) was mainly caused by a lack of internal motivation to increase social participation expressed by clients. 17 couples participated, however, intervention delivery was insufficient. 2) Context. Barriers during intervention delivery were most often related to client (changing needs), caregiver (increased burden) and health professional factors (delivery of integrated care lacked routine). 3) Impact Qualitative analyses revealed participants to be satisfied with intervention delivery, we were unable to capture these results through our primary outcome measure. CONCLUSIONS: This process evaluation revealed the Social Fitness study did not fit in three ways. First, framing the intervention on social participation promotion was as threatening to clients. The feeling of being unable to adequately contribute to social interactions seemed to be causing embarrassment. Second, the intervention seemed to be too complex to implement in the way it was designed. Third, there is a tension between the offering of a personalised tailor-made intervention and evaluation through a fixed study design. TRIAL REGISTRATION: The trial which is evaluated in this article (the Social Fitness study) is registered with the Dutch Trial Register (NTR), clinical trial number NTR4347 .


Asunto(s)
Cuidadores/psicología , Disfunción Cognitiva/psicología , Vida Independiente/psicología , Evaluación de Procesos, Atención de Salud/métodos , Evaluación de Programas y Proyectos de Salud/métodos , Participación Social/psicología , Anciano , Anciano de 80 o más Años , Cuidadores/normas , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/terapia , Femenino , Grupos Focales , Humanos , Vida Independiente/normas , Vida Independiente/tendencias , Masculino , Motivación/fisiología , Evaluación de Procesos, Atención de Salud/normas , Evaluación de Programas y Proyectos de Salud/normas , Encuestas y Cuestionarios/normas
5.
Int J Obes (Lond) ; 41(5): 759-768, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28025578

RESUMEN

OBJECTIVE: The association of obesity susceptibility variants with change in body mass index (BMI) across the life course is not well understood. SUBJECTS: In ancestry-stratified models of 5962 European American (EA), 2080 African American (AA) and 1582 Hispanic American (HA) individuals from the National Longitudinal Study of Adolescent to Adult Health (Add Health), we examined associations between 34 obesity single-nucleotide polymorphisms (SNPs) with per year change in BMI, measured by the slope from a growth-curve analysis of two or more BMI measurements between adolescence and young adulthood. For SNPs nominally associated with BMI change (P<0.05), we interrogated age differences within data collection Wave and time differences between age categories that overlapped between Waves. RESULTS: We found SNPs in/near FTO, MC4R, MTCH2, TFAP2B, SEC16B and TMEM18 were significantly associated (P<0.0015≈0.05/34) with BMI change in EA and the ancestry-combined meta-analysis. rs9939609 in FTO met genome-wide significance at P<5e-08 in the EA and ancestry-combined analysis, respectively [Beta(se)=0.025(0.004);Beta(se)=0.021(0.003)]. No SNPs were significant after Bonferroni correction in AA or HA, although five SNPs in AA and four SNPs in HA were nominally significant (P<0.05). In EA and the ancestry-combined meta-analysis, rs3817334 near MTCH2 showed larger effects in younger respondents, whereas rs987237 near TFAP2B, showed larger effects in older respondents across all Waves. Differences in effect estimates across time for MTCH2 and TFAP2B are suggestive of either era or cohort effects. CONCLUSION: The observed association between variants in/near FTO, MC4R, MTCH2, TFAP2B, SEC16B and TMEM18 with change in BMI from adolescence to young adulthood suggest that the genetic effect of BMI loci varies over time in a complex manner, highlighting the importance of investigating loci influencing obesity risk across the life course.


Asunto(s)
Índice de Masa Corporal , Etnicidad/genética , Sitios Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Obesidad/genética , Adolescente , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Estudios de Cohortes , Proteínas de Unión al ADN/genética , Femenino , Variación Genética , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Proteínas de la Membrana/genética , Proteínas de Transporte de Membrana Mitocondrial/genética , National Longitudinal Study of Adolescent Health , Obesidad/epidemiología , Polimorfismo de Nucleótido Simple , Receptor de Melanocortina Tipo 4/genética , Factor de Transcripción AP-2/genética , Estados Unidos/epidemiología , Aumento de Peso/genética , Aumento de Peso/fisiología , Adulto Joven
6.
Int J Obes (Lond) ; 41(2): 324-331, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-27867202

RESUMEN

BACKGROUND/OBJECTIVES: Central adiposity measures such as waist circumference (WC) and waist-to-hip ratio (WHR) are associated with cardiometabolic disorders independently of body mass index (BMI) and are gaining clinically utility. Several studies report genetic variants associated with central adiposity, but most utilize only European ancestry populations. Understanding whether the genetic associations discovered among mainly European descendants are shared with African ancestry populations will help elucidate the biological underpinnings of abdominal fat deposition. SUBJECTS/METHODS: To identify the underlying functional genetic determinants of body fat distribution, we conducted an array-wide association meta-analysis among persons of African ancestry across seven studies/consortia participating in the Population Architecture using Genomics and Epidemiology (PAGE) consortium. We used the Metabochip array, designed for fine-mapping cardiovascular-associated loci, to explore novel array-wide associations with WC and WHR among 15 945 African descendants using all and sex-stratified groups. We further interrogated 17 known WHR regions for African ancestry-specific variants. RESULTS: Of the 17 WHR loci, eight single-nucleotide polymorphisms (SNPs) located in four loci were replicated in the sex-combined or sex-stratified meta-analyses. Two of these eight independently associated with WHR after conditioning on the known variant in European descendants (rs12096179 in TBX15-WARS2 and rs2059092 in ADAMTS9). In the fine-mapping assessment, the putative functional region was reduced across all four loci but to varying degrees (average 40% drop in number of putative SNPs and 20% drop in genomic region). Similar to previous studies, the significant SNPs in the female-stratified analysis were stronger than the significant SNPs from the sex-combined analysis. No novel associations were detected in the array-wide analyses. CONCLUSIONS: Of 17 previously identified loci, four loci replicated in the African ancestry populations of this study. Utilizing different linkage disequilibrium patterns observed between European and African ancestries, we narrowed the suggestive region containing causative variants for all four loci.


Asunto(s)
Adiposidad/genética , Población Negra/genética , Variación Genética , Población Blanca/genética , Adulto , Distribución de la Grasa Corporal , Femenino , Predisposición Genética a la Enfermedad/etnología , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Obesidad Abdominal/etnología , Obesidad Abdominal/genética , Polimorfismo de Nucleótido Simple/genética , Relación Cintura-Cadera
7.
Int J Geriatr Psychiatry ; 32(12): e50-e63, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-28168863

RESUMEN

OBJECTIVE: We developed a tailor-made intervention aimed at improving social participation of people with cognitive problems and their caregivers. This programme consists of an integration of healthcare and welfare interventions: occupational therapy, physiotherapy and guidance by a welfare professional. This article describes the feasibility evaluation of this Social Fitness Programme. METHODS: Feasibility in terms of acceptability, demand, implementation, practicability and limited efficacy was evaluated based on experiences from professionals (programme deliverers), people with cognitive problems and their caregivers (programme recipients). We used qualitative research methods (focus group discussions, interviews, collection of treatment records) and applied thematic analyses. RESULTS: The intervention was feasible according to stakeholders, and limited efficacy showed promising results. However, we found feasibility barriers. First, an acceptability barrier: discussing declined social participation was difficult, hindering recruitment. Second, a demand barrier: some people with cognitive problems lacked motivation to improve declined social participation, sometimes in contrast to their caregivers' wishes. Third, implementation and practicability barriers: shared decision-making, focusing the intervention and interdisciplinary collaboration between healthcare and welfare professionals were suboptimal during implementation. DISCUSSION: Although this intervention builds upon scientific evidence, expert opinions and stakeholder needs, implementation was challenging. Healthcare and welfare professionals need to overcome obstacles in their collaboration and focus on integrated intervention delivery. Also, they need to find ways to (empower caregivers to) motivate people with cognitive problems to participate socially. After modifying the intervention and additional training of professionals, a consecutive pilot study to assess feasibility of the research design and outcome measures is justified. Copyright © 2017 John Wiley & Sons, Ltd.


Asunto(s)
Trastornos del Conocimiento/terapia , Participación Social , Anciano , Anciano de 80 o más Años , Cuidadores/psicología , Prestación Integrada de Atención de Salud/organización & administración , Ejercicio Físico , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Motivación , Proyectos Piloto , Investigación Cualitativa
8.
Aging Ment Health ; 21(1): 4-17, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27869503

RESUMEN

BACKGROUND: Because the pattern of illnesses changes in an aging population and many people manage to live well with chronic diseases, a group of health care professionals recently proposed reformulating the static WHO definition of health towards a dynamic one based on the ability to physically, mentally and socially adapt and self-manage. This paper is the result of a collaborative action of the INTERDEM Social Health Taskforce to operationalize this new health concept for people with dementia, more specifically the social domain, and to formulate directions for research and practice to promote social health in dementia. METHOD: Based on the expertise of the Social Health Taskforce members (N = 54) three groups were formed that worked on operationalizing the three social health dimensions described by Huber et al.: (1) capacity to fulfil potential and obligations; (2) ability to manage life with some degree of independence; (3) participation in social activities. For each dimension also influencing factors, effective interventions and knowledge gaps were inventoried. After a consensus meeting, the operationalizations of the dimensions were reviewed by the European Working Group of People with Dementia (EWGPWD). RESULTS: The social health dimensions could be well operationalized for people with dementia and are assessed as very relevant according to the Social Health Taskforce and EWGPWD. Personal (e.g. sense of coherence, competencies), disease-related (e.g. severity of cognitive impairments, comorbidity), social (support from network, stigma) and environmental factors (e.g. enabling design, accessibility) that can influence the person with dementia's social health and many interventions promoting social health were identified. CONCLUSION: A consensus-based operationalization of social health in dementia is proposed, and factors that can influence, and interventions that improve, social health in dementia identified. Recommendations are made for research and practice.


Asunto(s)
Consenso , Demencia/psicología , Apoyo Social , Actividades Cotidianas , Anciano , Enfermedad Crónica/psicología , Enfermedad Crónica/terapia , Demencia/terapia , Europa (Continente) , Conocimientos, Actitudes y Práctica en Salud , Humanos , Calidad de Vida , Validez Social de la Investigación/normas , Encuestas y Cuestionarios
9.
medRxiv ; 2024 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-38562815

RESUMEN

Early childhood caries (ECC) is the most common non-communicable childhood disease. It is an important health problem with known environmental and social/behavioral influences that lacks evidence for specific associated genetic risk loci. To address this knowledge gap, we conducted a genome-wide association study of ECC in a multi-ancestry population of U.S. preschool-age children (n=6,103) participating in a community-based epidemiologic study of early childhood oral health. Calibrated examiners used ICDAS criteria to measure ECC with the primary trait using the dmfs index with decay classified as macroscopic enamel loss (ICDAS ≥3). We estimated heritability, concordance rates, and conducted genome-wide association analyses to estimate overall genetic effects; the effects stratified by sex, household water fluoride, and dietary sugar; and leveraged the combined gene/gene-environment effects using the 2-degree-of-freedom (2df) joint test. The common genetic variants explained 24% of the phenotypic variance (heritability) of the primary ECC trait and the concordance rate was higher with a higher degree of relatedness. We identified 21 novel non-overlapping genome-wide significant loci for ECC. Two loci, namely RP11-856F16 . 2 (rs74606067) and SLC41A3 (rs71327750) showed evidence of association with dental caries in external cohorts, namely the GLIDE consortium adult cohort (n=∼487,000) and the GLIDE pediatric cohort (n=19,000), respectively. The gene-based tests identified TAAR6 as a genome-wide significant gene. Implicated genes have relevant biological functions including roles in tooth development and taste. These novel associations expand the genomics knowledge base for this common childhood disease and underscore the importance of accounting for sex and pertinent environmental exposures in genetic investigations of oral health.

10.
Int J Obes (Lond) ; 37(3): 432-8, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22546774

RESUMEN

BACKGROUND: Fatty liver disease (FLD) is characterized by increased intrahepatic triglyceride content with or without inflammation and is associated with obesity, and features of the metabolic syndrome. Several recent genome-wide association studies have reported an association between single-nucleotide polymorphism rs738409 in the (patatin-like phospholipase domain-containing protein 3) PNPLA3 gene and FLD. Liver attenuation (LA; hounsfield units, HU) by computed tomography is a non-invasive measure of liver fat, with lower values of HU indicating higher liver fat content. Clinically, a LA value of 40 HU indicates moderate-to-severe hepatic steatosis. OBJECTIVE: We investigated whether missense rs738409 PNPLA3 interacted with abdominal visceral adipose tissue (VAT) volume (cm) to reduce LA (that is, increased liver fat) in 1019 European American men and 1238 European American women from the Family Heart Study. METHODS: We used linear regression to test the additive effect of genotype, abdominal VAT, and their multiplicative interaction on LA adjusted for age, body mass index, high-density lipoprotein-cholesterol, insulin resistance, serum triglycerides, abdominal subcutaneous adipose tissue and alcohol intake. RESULTS: In men and women combined, the interaction between each copy of the rs738409 variant allele (minor allele frequency 0.23) and 100 cm/150 mm slice VAT decreased LA by 2.68±0.35 HU (P<0.01). The interaction of 100 cm VAT and the variant allele was associated with a greater decrease in LA in women than men (-4.8±0.6 and -2.2±0.5 HU, respectively). CONCLUSIONS: The interaction between genotype and VAT volume suggest key differences in the role of PNPLA3 genotype in conjunction with abdominal VAT in liver fat accrual. The stronger association of the PNPLA3 genotype and liver fat in women suggests that women may be more sensitive to liver fat accumulation in the setting of increased visceral fat, compared with men. The presence of the PNPLA3 variant genotype, particularly in the context of high VAT content may have an important role in FLD.


Asunto(s)
Hígado Graso/patología , Grasa Intraabdominal/patología , Lipasa/genética , Hígado/patología , Proteínas de la Membrana/genética , Obesidad/patología , Grasa Subcutánea Abdominal/patología , Consumo de Bebidas Alcohólicas/epidemiología , Índice de Masa Corporal , Hígado Graso/diagnóstico por imagen , Hígado Graso/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Resistencia a la Insulina/genética , Grasa Intraabdominal/diagnóstico por imagen , Hígado/diagnóstico por imagen , Masculino , Persona de Mediana Edad , National Heart, Lung, and Blood Institute (U.S.) , Obesidad/diagnóstico por imagen , Obesidad/epidemiología , Obesidad/genética , Polimorfismo de Nucleótido Simple , Radiografía , Grasa Subcutánea Abdominal/diagnóstico por imagen , Triglicéridos/sangre , Estados Unidos/epidemiología
11.
Eur J Neurol ; 19(3): 376-84, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21999841

RESUMEN

BACKGROUND AND PURPOSE: To translate the Dementia quality of life instrument (DQoL) into German and assess its construct and concurrent validity in community-dwelling people with mild to moderate dementia. METHODS: Dementia quality of life instrument data of two pooled samples (n=287) were analysed regarding ceiling and floor effects, internal consistency, factor reliability and correlations with corresponding scales on quality of life (Quality of Life in Alzheimer's Disease and SF-12), cognition (Mini-Mental State Examination, Alzheimer's Disease Assessment Scale - cognitive), depression (Cornell Scale for Depression in Dementia) and activities of daily living (Interview of Deterioration in Daily Living Activities in Dementia). RESULTS: We found no floor effects (<2%), minor ceiling effects (1-11%), moderate to good internal consistency (Cronbach's α: 0.6-0.8) and factor reliability (0.6-0.8), moderate correlations with self-rated scales of quality of life (Spearman coefficient: 0.3-0.6) and no or minor correlations with scores for cognition, depression or activities of daily living (r<0.3). The original five-factor model could not be confirmed. CONCLUSION: The DQoL can be used in dementia research for assessing positive and negative affect, feelings of belonging and self-esteem. The findings suggest further research to improve the structure of the scales aesthetics, feelings of belonging and self-esteem.


Asunto(s)
Demencia/psicología , Pruebas Neuropsicológicas , Calidad de Vida/psicología , Anciano , Femenino , Humanos , Lenguaje , Masculino
12.
Diabetes Metab Res Rev ; 27(1): 63-9, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21218509

RESUMEN

BACKGROUND: an increase in sedentary activities is likely a major contributor to the rise in obesity over the last three decades. Little research has examined interactions between genetic variants and sedentary activity on obesity phenotypes. High levels of sedentary activity during adolescence may interact with genetic factors to influence body mass changes between adolescence and young adulthood, a high risk period for weight gain. METHODS: in the National Longitudinal Study of Adolescent Health, siblings and twin pairs (16.5 ± 1.7 years) were followed into young adulthood (22.4 ± 1.8 years). Self-reported screen time (TV, video, and computer use in h/week) and body mass index (kg/m(2) ), calculated from measured height and weight at adolescence and at young adulthood, were available for 3795 participants. We employed a variance component approach to estimate the interaction between genotype and screen time for body mass changes. Additive genotype-by-screen time interactions were assessed using likelihood-ratio tests. Models were adjusted for race, age, sex, and age-by-sex interaction. RESULTS: the genetic variation in body mass changes was significantly larger in individuals with low ( δ(G) = 27.59 ± 1.58) compared with high (δ(G) = 18.76 ± 2.59) levels of screen time (p < 0.003) during adolescence. CONCLUSIONS: Our findings demonstrate that sedentary activities during adolescence may interact with genetic factors to influence body mass changes between adolescence and young adulthood. Accounting for obesity-related behaviours may improve current understanding of the genetic variation in body mass changes.


Asunto(s)
Predisposición Genética a la Enfermedad , Obesidad/etiología , Conducta Sedentaria , Aumento de Peso , Adolescente , Adulto , Índice de Masa Corporal , Peso Corporal , Niño , Femenino , Humanos , Estudios Longitudinales , Masculino , Hermanos , Gemelos , Adulto Joven
13.
Pediatr Obes ; 14(3): e12479, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30515969

RESUMEN

BACKGROUND: While the genetic contribution to obesity is well established, few studies have examined how genetic variants influence standardized body mass index Z-score (BMIz) in Hispanics/Latinos, especially across childhood and adolescence. OBJECTIVES: We estimated the effect of established BMIz loci in Chilean children of the Santiago Longitudinal Study (SLS). METHODS: We examined associations with BMIz at age 10 for 15 loci previously identified in European children. For significant loci, we performed association analyses at ages 5 and 16 years, for which we have smaller sample sizes. We tested associations of unweighted genetic risk scores (GRSs) for previously identified tag variants (GRS_EUR) and from the most significant variants in SLS at each locus (GRS_SLS). RESULTS: We generalized five variants at age 10 (P < 0.05 and directionally consistent), including rs543874 that reached Bonferroni-corrected significance. The effect on BMIz was greatest at age 10 for all significant loci, except FTO, which exhibited an increase in effect from ages 5 to 16. Both GRSs were associated with BMIz (P < 0.0001), but GRS_SLS explained a much greater proportion of the variation (13.63%). CONCLUSION: Our results underscore the importance of conducting genetic investigations across life stages and selecting ancestry appropriate tag variants in future studies for disease prediction and clinical evaluation.


Asunto(s)
Índice de Masa Corporal , Obesidad Infantil/genética , Adolescente , Niño , Desarrollo Infantil/fisiología , Preescolar , Chile , Estudios de Cohortes , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Estudios Longitudinales , Masculino , Polimorfismo de Nucleótido Simple , Factores de Riesgo
14.
J Perinatol ; 26(5): 301-5, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16554848

RESUMEN

OBJECTIVE: To test a new system designed for digital recording of skin and air temperature, thereby allowing analysis of cyclic changes in temperature in neonates in servo-controlled incubators. METHODS: Analysis of cyclic changes of serial skin and air temperature in asymptomatic infants in servo-controlled incubators adjusting heat output to the patient's temperature. RESULTS: In nine asymptomatic neonates ranging from 25 to 40 weeks of gestational age, analysis showed peaks of coherence (squared correlation) between skin and air temperature measurements at periods ranging between 1.5 and 3 h. CONCLUSION: We have established a new system to study cyclic changes in skin and air temperature in neonates in servo-controlled incubators. The analysis of this pilot study suggests that the most important changes in skin and air temperature in asymptomatic neonates occur at a periodicity of 1.5 to 3 h, which is similar to that previously described for neonatal temperature. Additional data are required to determine whether this new system may be useful in neonatal care.


Asunto(s)
Aire Acondicionado/instrumentación , Regulación de la Temperatura Corporal , Incubadoras para Lactantes , Temperatura Cutánea , Temperatura , Termómetros , Peso al Nacer , Estudios de Cohortes , Ambiente Controlado , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recién Nacido de muy Bajo Peso , Masculino , Proyectos Piloto , Estudios Prospectivos
15.
Pediatr Obes ; 11(2): 95-101, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25893265

RESUMEN

BACKGROUND: Adolescent obesity is predictive of future weight gain, obesity and adult onset severe obesity (body mass index [BMI] ≥40 kg m(-2) ). Despite successful efforts to identify Single Nucleotide Polymorphisms (SNPs) influencing BMI, <5% of the 40-80% heritability of the phenotype has been explained. Identification of gene-gene (G-G) interactions between known variants can help explain this hidden heritability as well as identify potential biological mechanisms affecting weight gain during this critical developmental period. OBJECTIVE: We have recently shown distinct genetic effects on BMI across the life course, and thus it is important to examine the evidence for epistasis in adolescence. METHODS: In adolescent participants of European descent from wave II of the National Longitudinal Study of Adolescent Health (Add Health, n = 5072, ages 12-21, 52.5% female), we tested 34 established BMI-related SNPs for G-G interaction effects on BMI z-score. We used mixed-effects regression, assuming multiplicative interaction models adjusting for age, sex and geographic region, with random effects for family and school. RESULTS: For 28 G-G interactions that were nominally significant (P < 0.05), we attempted to replicate our results in an adolescent sample from the Childhood European American Cohort from Philadelphia. In the replication study, one interaction (PRKD1-FTO) was significant after correction for multiple testing. CONCLUSIONS: Our results are suggestive of epistatic effects on BMI during adolescence and point to potentially interactive effects between genes in biological pathways important in obesity.


Asunto(s)
Índice de Masa Corporal , Epistasis Genética/genética , Obesidad Infantil/epidemiología , Obesidad Infantil/genética , Polimorfismo de Nucleótido Simple , Aumento de Peso/genética , Adolescente , Salud del Adolescente , Femenino , Humanos , Estudios Longitudinales , Masculino , Fenotipo , Estados Unidos/epidemiología , Población Blanca , Adulto Joven
16.
Health Place ; 42: 159-165, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27771443

RESUMEN

Little is known about how obesity susceptibility single nucleotide polymorphisms (SNPs) interact with moderate to vigorous physical activity (MVPA) in relation to BMI during adolescence, once obesogenic neighborhood factors are accounted for. In race stratified models, including European (EA; N=4977), African (AA; N=1726), and Hispanic Americans (HA; N=1270) from the National Longitudinal Study of Adolescent to Adult Health (1996; ages 12-21), we assessed the evidence for a SNPxMVPA interaction with BMI-for-age Z score, once accounting for obesogenic neighborhood factors including physical activity amenities, transportation and recreation infrastructure, poverty and crime. Eight SNPxMVPA interactions with suggestive significance (p<0.10; three in each EA, and AA, two in HA) were observed showing attenuation on BMI-for-age Z score in adolescents with ≥5 versus <5 bouts/week MVPA, except for rs10146997 (near NRXN3). Findings were robust to the inclusion of neighborhood-level variables as covariates. These findings suggest that any attenuation from MVPA on a genetic susceptibility to obesity during adolescence is likely not operating through obesogenic neighborhood factors.


Asunto(s)
Ejercicio Físico , Interacción Gen-Ambiente , Obesidad/epidemiología , Características de la Residencia , Adolescente , Adulto , Negro o Afroamericano/estadística & datos numéricos , Índice de Masa Corporal , Niño , Ambiente , Femenino , Sistemas de Información Geográfica , Hispánicos o Latinos/estadística & datos numéricos , Humanos , Estudios Longitudinales , Masculino , Transportes , Estados Unidos , Población Blanca/estadística & datos numéricos , Adulto Joven
17.
Neurochem Int ; 24(1): 43-55, 1994 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-8130735

RESUMEN

The possible role of carbohydrate binding proteins (lectins) and glycoconjugates in the formation of junctions ensuring tightening between ependymal cells was studied using synthetic glycoconjugates, the neoglycoproteins. These compounds are prepared by substituting bovine serum albumin with sugar residues and additional labelling (or not) with fluorescein or biotin. Injections of these components into the cerebral ventricles of adult rats resulted in a binding pattern which could be related to their carbohydrate composition. Mannose-containing neoglycoproteins were bound to ependymal cell cilia and penetrated rapidly the brain tissue. Such phenomenon was not seen with glucose- or galactose-containing neoglycoprotein molecules. In contrast, mannose-, galactose- and glucose-containing neoglycoproteins bound strongly to some endothelial cells around blood vessels. Fluorescent unglycosylated serum albumin did not bind to any brain structures. In contrast, co-injection of mannose-containing non-fluorescent neoglycoproteins with the other fluorescent compounds (including fluorescent sugar-free BSA) resulted in the penetration of the fluorescent compounds into the brain tissue. This internalization into brain was attributed to disaggregation of junctions between ependymal cells. Cultured ependymal cells behaved likewise. In short term experiments (5 min-1 h), only the mannose-containing neoglycoproteins bound strongly to the ependymal cells, particularly to the cilia. In long term experiments (1-9 days), mannose-containing neoglycoproteins specifically induced the disappearance of junctions between the cultured cells. These results emphasize the importance of mannose-dependent recognition system in the maintenance of junctions between ependymal cells, where a mannose-binding lectin has been previously detected.


Asunto(s)
Epéndimo/citología , Glicoproteínas/farmacología , Manosa/farmacología , Animales , Células Cultivadas , Endotelio Vascular/metabolismo , Epéndimo/efectos de los fármacos , Epéndimo/metabolismo , Fluoresceína-5-Isotiocianato/análogos & derivados , Fluoresceína-5-Isotiocianato/metabolismo , Colorantes Fluorescentes , Galactosa/metabolismo , Glucosa/metabolismo , Glicoproteínas/metabolismo , Uniones Intercelulares/efectos de los fármacos , Manosa/metabolismo , Microscopía Fluorescente , Ratas , Ratas Wistar , Albúmina Sérica Bovina/metabolismo
18.
Urology ; 11(3): 285-8, 1978 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-636137

RESUMEN

The fifteenth reported case of paratesticular liposarcoma is presented, together with a review of the literature. The prognostic and therapeutic implications of this particular neoplasm are discussed.


Asunto(s)
Neoplasias de los Genitales Masculinos/terapia , Liposarcoma/terapia , Cordón Espermático , Adulto , Neoplasias de los Genitales Masculinos/patología , Humanos , Liposarcoma/patología , Masculino , Recurrencia Local de Neoplasia
19.
Clin Ther ; 20(3): 486-96, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9663364

RESUMEN

Two multicenter surveys were conducted in a total of 1310 insulin users over a 3-week period. The first survey, in which 803 patients participated, assessed the effects of using the Novolin Prefilled insulin delivery system on lifestyle; compliance with insulin, diet, and exercise regimens; and feelings of well-being compared with the traditional insulin vial and syringe. The second survey, in which 507 patients participated, assessed attitudes and perceptions of the NovoPen 1.5 insulin delivery system compared with the traditional insulin vial and syringe. Both delivery systems are dial-a-dose insulin pens containing a single-use NovoFine 30 insulin needle and are designed to be portable and discreet. Patients using the Novolin Prefilled delivery system completed a three-part questionnaire (two parts at the initial survey visit and the third at the end of 3 weeks); those using the NovoPen 1.5 completed a questionnaire at the end of 3 weeks. Seven hundred twenty-nine (92%) of 793 patients in the Novolin Prefilled group and 482 (98%) of 492 patients in the NovoPen 1.5 group reported that it was easy to use these delivery systems; 672 (85%) of 791 patients reported that they missed no injections while using the Novolin Prefilled system, compared with 566 (72%) of 789 patients using the vial and syringe. With the NovoPen 1.5, 333 (73%) of 456 patients said that the dosing mechanism was more accurate, and 351 (77%) of 456 patients found it easier to comply with their insulin regimen. In both groups, patients reported a strong desire to continue using the insulin pens and a willingness to recommend their use to someone else. Because patients were more physically and psychologically comfortable injecting insulin with the Novolin Prefilled or NovoPen 1.5 system than with an insulin syringe, their overall attitude toward insulin therapy improved, as did their confidence about managing their disease. An improved attitude toward insulin therapy might be expected to lead to better acceptance of and compliance with an insulin regimen.


Asunto(s)
Diabetes Mellitus/tratamiento farmacológico , Hipoglucemiantes/administración & dosificación , Hipoglucemiantes/uso terapéutico , Insulina/administración & dosificación , Insulina/uso terapéutico , Adulto , Anciano , Embalaje de Medicamentos , Femenino , Humanos , Inyecciones Subcutáneas , Masculino , Persona de Mediana Edad , Aceptación de la Atención de Salud , Calidad de Vida , Encuestas y Cuestionarios , Jeringas
20.
Arthritis Care Res ; 12(6): 417-24, 1999 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11081013

RESUMEN

OBJECTIVE: The Sequential Occupational Dexterity Assessment (SODA) is a reliable and valid instrument to measure bimanual hand function in rheumatoid arthritis. Since administering SODA is time-consuming, the aim of this study is to construct a short SODA (SODA-S). METHODS: Dexterity was measured with the SODA twice (with an interval of one year) in 94 patients. Item analyses based on the different SODA tasks were carried out to determine which of the 12 individual tasks were most responsible for the observed changes in dexterity. RESULTS: Six of the 12 SODA tasks were identified as sensitive to change. Based on these 6 tasks, the SODA-S was computed. Internal consistency of the SODA-S is good (Cronbach's alphas at baseline and followup were 0.82 and 0.85, respectively). The correlation between the SODA and SODA-S is 0.92. This means that the information gathered from the SODA-S is almost equal to the information gathered from the full SODA. Norm scores are provided for both instruments. CONCLUSION: The SODA-S is a good alternative to the full SODA in following patient's dexterity in daily practice. However, when evaluating the effect of specific hand treatment, the full SODA may be preferred.


Asunto(s)
Actividades Cotidianas , Artritis Reumatoide/fisiopatología , Fuerza de la Mano , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios/normas , Adulto , Anciano , Artritis Reumatoide/clasificación , Progresión de la Enfermedad , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Psicometría , Desempeño Psicomotor , Sensibilidad y Especificidad , Factores de Tiempo
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