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1.
Am J Hum Genet ; 110(1): 71-91, 2023 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-36493769

RESUMO

Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to the formation of CL/P, but the contribution of copy-number variants (CNVs) to cleft formation remains relatively understudied. To fill this knowledge gap, we conducted a large-scale comparative analysis of genome-wide CNV profiles of 869 individuals from the Philippines and 233 individuals of European ancestry with CL/P with three primary goals: first, to evaluate whether differences in CNV number, amount of genomic content, or amount of coding genomic content existed within clefting subtypes; second, to assess whether CNVs in our cohort overlapped with known Mendelian clefting loci; and third, to identify unestablished Mendelian clefting genes. Significant differences in CNVs across cleft types or in individuals with non-syndromic versus syndromic clefts were not observed; however, several CNVs in our cohort overlapped with known syndromic and non-syndromic Mendelian clefting loci. Moreover, employing a filtering strategy relying on population genetics data that rare variants are on the whole more deleterious than common variants, we identify several CNV-associated gene losses likely driving non-syndromic clefting phenotypes. By prioritizing genes deleted at a rare frequency across multiple individuals with clefts yet enriched in our cohort of individuals with clefts compared to control subjects, we identify COBLL1, RIC1, and ARHGEF38 as clefting genes. CRISPR-Cas9 mutagenesis of these genes in Xenopus laevis and Danio rerio yielded craniofacial dysmorphologies, including clefts analogous to those seen in human clefting disorders.


Assuntos
Fenda Labial , Fissura Palatina , Variações do Número de Cópias de DNA , Humanos , Fenda Labial/genética , Fissura Palatina/genética , Estudo de Associação Genômica Ampla , Fatores de Troca do Nucleotídeo Guanina/genética , Fenótipo , Fatores de Transcrição/genética
2.
Mol Cell Biochem ; 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38536555

RESUMO

Evidence for folate's protective effects on neural tube defects led the USA and Chile to start mandatory folic acid (FA) fortification programs, decreasing up to 50%. However, ∼30% of the population consuming fortified foods reach supraphysiologic serum levels. Although controversial, several epidemiological and clinical observations suggest that folate increases cancer risk, giving concern about the risks of FA supplementation. The Cancer stem cells (CSCs) model has been used to explain survival to anticancer therapies. The Notch-1 pathway plays a role in several cancers and is associated with the stemness process. Different studies show that modulation of metabolic pathways regulates stemness capacity in cancer. Supraphysiologic concentrations of FA increase the proliferation of HT-29 cells by Notch-1 activation. However, whether folate can induce a stemness-like phenotype in cancer is not known. We hypothesized that FA protects from glucose deprivation-induced cell death through Notch-1 activation. HT-29 cells were challenged with glucose deprivation at basal (20 nM) and supraphysiological (400 nM) FA and 5-MTHF concentrations. We analyzed changes in stemness-like gene expression, cell death and different energetic metabolic functions. Supraphysiological concentrations of FA increased stemness-like genes, and improved survival and oxygen consumption, inducing AMPK phosphorylation and HSP-70 protein expression. We evaluated the Notch-1 pathway using the DAPT and siRNA as inhibitors, decreasing the stemness-like gene expression and preventing the FA protection against glucose deprivation-induced cell death. Moreover, they decreased oxygen consumption and AMPK phosphorylation. These results suggest that FA protects against glucose deprivation. These effects were associated with AMPK activation, a critical metabolic mediator in nutrient consumption and availability that activates the Notch-1 pathway.

3.
Aging Ment Health ; 27(9): 1770-1779, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36178152

RESUMO

OBJECTIVES: Understanding family dyadic communication in dementia is essential to promote the well-being of family caregivers and persons living with dementia. The Dyadic Communication Observational coding scheme in DEmentia care (DCODE) was developed and tested to assess family dyadic communication in dementia. METHODS: The DCODE was developed from a review of literature, expert review, and pretesting. A secondary analysis of the 75 in-home care video observations from 19 family caregiver-care recipient dyads was conducted to test psychometric properties. RESULTS: The DCODE consists of 43 caregiver items and 41 care recipient items. We observed internal consistency, intra-rater reliability, and inter-rater reliability as adequate. Content validity and convergent validity were moderate. Predictive validity was moderate in predicting caregiver burden. The overall psychometric properties demonstrated a moderate quality of the DCODE. CONCLUSIONS: Findings provided the preliminary psychometric evidence of the DCODE as a promising instrument to assess family dyadic communication in dementia. Future testing for concurrent, divergent, and structural validity of the DCODE is needed.

4.
J Ren Nutr ; 31(1): 64-72, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32732154

RESUMO

OBJECTIVE: Omega-3 fatty acids may reduce albuminuria and cardiovascular risk factors in patients with chronic kidney disease (CKD). We aimed to assess the effects of omega-3 fatty acid supplementation on albuminuria, blood pressure, pulse wave velocity, and inflammatory markers in patients with CKD. METHODS: Patients with CKD and a urine albumin excretion of at least 30 mg/g creatinine were supplemented for 3 months with 3,666 mg/day of docosahexaenoic and eicosapentaenoic acids or a corn oil supplement. The study was double blind. At baseline, 6 weeks, and 12 weeks, fasting blood and morning spot urine samples were obtained. Blood pressure, carotid intima media thickness, and pulse wave velocity were measured. The main outcome measure was a reduction of ≥20% in urine albumin. RESULTS: One hundred patients were randomized (50 received omega-3 fatty acids and 50 received corn oil). Four patients who received omega-3 fatty acids and 5 who received vegetable oil were lost to follow-up. In patients receiving omega-3 fatty acids, the omega-3 index increased from 3.08 (2.32-3.81) to 5.48 (3.045-7.04) percent. A 20% reduction in urine albumin excretion was observed in 13 participants of the control group and 19 participants of omega-3 group (Fisher's exact P = .274). However, the supplement had a significant and positive effect on pulse wave velocity and triglyceride level. CONCLUSION: An omega-3 fatty acid supplement of 3,666 mg/day did not modify urine albumin excretion in patients with CKD but did improve pulse wave velocity and serum triglyceride levels.


Assuntos
Albuminúria/complicações , Albuminúria/urina , Suplementos Nutricionais , Ácidos Graxos Ômega-3/uso terapêutico , Ácidos Graxos Ômega-3/urina , Insuficiência Renal Crônica/urina , Idoso , Albuminúria/prevenção & controle , Biomarcadores/urina , Pressão Sanguínea/efeitos dos fármacos , Chile , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Onda de Pulso , Insuficiência Renal Crônica/complicações
5.
Health Expect ; 23(1): 169-181, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31646744

RESUMO

BACKGROUND: A positive family history of type 2 diabetes (T2D) has been associated with risk awareness and risk-reducing behaviours among the unaffected relatives. Yet, little is known about how people with a positive family history for diabetes develop and manage their personal sense of risk. OBJECTIVE: To characterize two key concepts, salience and vulnerability, within the familial risk perception (FRP) model among unaffected individuals, at increased familial risk for T2D. DESIGN: We conducted a mixed method study. Descriptions of salience and vulnerability were collected through semi-structured interviews. Participant's perception of self-reported risk factors (family history, age, race/ethnicity, medical history, weight and exercise) was measured using the Perceived Risk Factors for T2D Tool and was compared to a clinical evaluation of the same risk factors. RESULTS: We identified two components of salience: (a) concern for developing T2D and (b) risk awareness triggers, and two features of vulnerability: (a) statement of risk and (b) risk assessment devices. Although few participants (26%) were concordant between their perceived and clinical overall T2D risk, concordance for individual risk factors was higher, ranging from 42% (medical history) to 90% (family history). DISCUSSION AND CONCLUSION: Both familial and non-familial events lead people to contemplate their T2D risk, even among people who have a positive family history. Participants often downplayed their overall risk and underestimated their overall risk compared to a clinical risk assessment of the same self-reported risk factors. Clinicians could leverage key components of the FRP process as way to engage patients in risk reduction strategies earlier.


Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Medição de Risco , Comportamento de Redução do Risco , Adulto , Feminino , Nível de Saúde , Humanos , Entrevistas como Assunto , Masculino , Anamnese , Pessoa de Meia-Idade , Autorrelato
6.
J Am Psychiatr Nurses Assoc ; 26(1): 77-85, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30688546

RESUMO

INTRODUCTION: Programs for assertive community treatment (PACT) serve persons with severe mental illness who have been unsuccessful with traditional outpatient services. Many PACT clients struggle to obtain symptom relief with medications that often have poor efficacy and undesired side effects, which can result in nonadherence, relapse, and increased health care utilization with associated costs. AIMS: This quality improvement project aimed to improve client and PACT program outcomes by incorporating pharmacogenomic testing into the psychopharmacological decision-making process. METHODS: The project used a pre-posttest design with each client serving as their own control to evaluate changes in clients' symptoms and program outcomes resulting from pharmacogenomics-guided medication management. RESULTS: Following project implementation, clients' symptoms were decreased and both engagement in care and stability in the community increased. Psychiatric hospitalizations and associated costs decreased. CONCLUSIONS: This project suggests utility for using pharmacogenomics testing to personalize care for persons with severe mental illness.


Assuntos
Serviços Comunitários de Saúde Mental , Transtornos Mentais/tratamento farmacológico , Equipe de Assistência ao Paciente/organização & administração , Testes Farmacogenômicos , Medicina de Precisão , Doença Crônica/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Programas e Projetos de Saúde , Melhoria de Qualidade
7.
J Nurs Scholarsh ; 51(1): 50-57, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30272391

RESUMO

PURPOSE: To establish the knowledge needed to integrate the multiple branches of omics into nursing research to accelerate achieving the research recommendations of the Genomic Nursing Science Blueprint. METHODS: The creation of the Genomic Knowledge Matrix occurred in three phases. In phase 1, the Omics Nursing Science and Education Network (ONSEN) Education Workgroup completed an evidence, bioinformatics, and technology review to inform the components of the Matrix. The ONSEN Advisory Panel then reviewed and integrated revisions. Phase 3 solicited targeted public comment focused on education and research experts, and applicable revisions were made. FINDINGS: The Genomic Knowledge Matrix establishes the following content areas: cellular and molecular biology, system physiology, microbiology, and translational bioinformatics as the minimum required preparation for nurse scientists to understand omics and to integrate this knowledge into research. The Matrix also establishes levels of understanding needed to function based on the role of the nurse scientist. CONCLUSIONS: The Genomic Knowledge Matrix addresses knowledge important for nurse scientists to integrate genomics into their research. Building on prior recommendations and existing genomic competencies, the Matrix was designed to present key knowledge elements critical to understand omics that underpin health and disease. Knowledge depth varies based on the research role. CLINICAL RELEVANCE: The Genomic Knowledge Matrix provides the vital guidance for training nurse scientists in the integration of genomics. The flexibility of the Matrix also provides guidance to inform fundamental genomic content needed in core science content in undergraduate and graduate level nursing curricula.


Assuntos
Competência Clínica/normas , Educação em Enfermagem/organização & administração , Genômica/educação , Biologia Computacional , Currículo , Educação em Enfermagem/normas , Humanos , Comunicação Interdisciplinar , National Cancer Institute (U.S.) , National Human Genome Research Institute (U.S.) , National Institute of Nursing Research (U.S.) , Enfermeiras e Enfermeiros , Pesquisa em Educação em Enfermagem , Estados Unidos
8.
Res Nurs Health ; 42(5): 369-381, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31368184

RESUMO

People who have a single first-degree relative with type 2 diabetes (T2D) are at increased risk for developing T2D over their lifetime. A positive family history of T2D is also associated with developing risk awareness and engaging in risk-reducing behaviors among the unaffected relatives. Yet, little is known about how people with a positive family history for disease personalize and process their familial risk to form perceptions about their own risk. In this mixed method study, we explored risk personalization among a diverse group of people between the ages of 18 and 60, with a positive family history of T2D, who were themselves unaffected (n = 109). We collected interview and survey data with respect to the familial risk perception personalization model. Using cluster analysis, qualitative and quantitative data were combined to inductively derive three distinct clusters representing three different familial risk perception personalization processes. These results can serve as a basis for tailored interventions aimed at reducing risk for T2D among people with increased risk due to familial history.


Assuntos
Comunicação , Diabetes Mellitus Tipo 2/genética , Família/psicologia , Predisposição Genética para Doença , Pacientes/psicologia , Relações Médico-Paciente , Adulto , Idoso , Idoso de 80 Anos ou mais , Atitude Frente a Saúde , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Inquéritos e Questionários
9.
BMC Geriatr ; 18(1): 298, 2018 12 03.
Artigo em Inglês | MEDLINE | ID: mdl-30509203

RESUMO

BACKGROUND: Sedentariness may be an important risk factor for sarcopenia. The aim of this work was to assess the association between muscle mass and strength and markers of usual physical activity such as activity energy expenditure and peak oxygen uptake. METHODS: Young and old participants were assessed measuring body composition by DEXA (double beam X ray absorptiometry), handgrip strength, peak oxygen consumption and workload during an exercise calorimetry in a braked cycle ergometer and a 72 h activity energy expenditure using Actiheart actigraphs. A heart rate/energy expenditure curve derived from the exercise calorimetry was used to calibrate each actigraph. Sarcopenia was defined as having an appendicular fat free mass index below 7.5 kg/m2 and 5.6 kg/m2 in men and women respectively, or a handgrip strength z score below 1, using local normal data or having both parameters below the cutoff points. RESULTS: We analyzed data from 192 assessments performed in participants aged 22 to 88 years (106 women). Sarcopenic participants (as determined by muscle mass, strength or both) had a significantly lower peak oxygen uptake and work load and a significantly lower activity energy expenditure. When analyzing lean mass and strength as continuous variables, peak oxygen consumption was a significant predictor of fat free mass in men. Among women, the association was observed only when percentage of muscle mass was expressed as a z score. CONCLUSIONS: Activity energy expenditure and peak oxygen consumption are associated with a lower muscle mass and the presence of sarcopenia and should be considered as risk factors for this condition.


Assuntos
Metabolismo Energético/fisiologia , Exercício Físico/fisiologia , Força da Mão/fisiologia , Consumo de Oxigênio/fisiologia , Sarcopenia/diagnóstico por imagem , Sarcopenia/fisiopatologia , Absorciometria de Fóton/métodos , Actigrafia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Composição Corporal/fisiologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/fisiologia , Adulto Jovem
10.
J Genet Couns ; 27(5): 1022-1039, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29492742

RESUMO

Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives. However, family communication is not well understood and is ripe for developing interventions to improve screening rates. Until very recently, family communication of genetic risk has been mostly studied in non-cardiac disease. Using this non-cardiac literature, we developed the family communication of genetic risk (FCGR) conceptual framework. The FCGR has four main elements of the communication process: influential factors, communication strategies, communication occurrence, and reaction to communication. Using the FCGR, we conducted an integrated review of the available literature on genetic risk communication in HCA families. Descriptive analysis of 12 articles resulted in the development of categories describing details of the FCGR elements in the context of HCA. This review synthesizes what is known about influential factors, communication strategies, communication occurrence, and outcomes of communication in the context of HCA.


Assuntos
Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Família , Predisposição Genética para Doença , Adulto , Criança , Testes Genéticos/métodos , Humanos , Estudos Retrospectivos
11.
Qual Health Res ; 28(4): 534-547, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29239272

RESUMO

Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.


Assuntos
Diabetes Mellitus Tipo 2/psicologia , Anamnese , Modelos Psicológicos , Adolescente , Adulto , Diabetes Mellitus Tipo 2/etiologia , Diabetes Mellitus Tipo 2/genética , Feminino , Predisposição Genética para Doença/psicologia , Nível de Saúde , Humanos , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Adulto Jovem
12.
J Genet Couns ; 26(4): 763-775, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27832511

RESUMO

Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed. Semi-structured interviews explored flow and content of genetic information communicated, the meanings the families attach to the communicated information, and the motivating and hindering factors in communication. Thematic analysis was used to analyze the findings. A total of five families participated, which included 11 individuals. Findings revealed that the diagnosis of CAH is not kept secret and it is openly shared with the family. The decision to communicate is influenced by several factors including the family's desire to seek further information about their family history. Initially, the focus of the communicated information is on the health implications and while communication about genetics occurs, this is almost always confined to the immediate family. The mother and grandmother serve as primary communicators in the family. The families have limited understanding of CAH especially its genetic implications including recurrence risk and carrier status. The findings can guide genetic counselors in supporting families in communicating information about CAH with the rest of the family.


Assuntos
Hiperplasia Suprarrenal Congênita/etnologia , Hiperplasia Suprarrenal Congênita/genética , Comunicação , Família/etnologia , Aconselhamento Genético/psicologia , Adolescente , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Filipinas , Adulto Jovem
13.
J Clin Nurs ; 26(13-14): 1869-1877, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27487389

RESUMO

AIMS AND OBJECTIVES: The aim of the study was to determine the rate of use of prenatal screening tests and the factors affecting the decision to have a prenatal screening test in pregnant women in Turkey. BACKGROUND: Prenatal genetic screening as an optional service is commonly used to determine a level of risk for genetic conditions in the foetus. DESIGN: A quantitative cross-sectional survey. METHODS: Pregnant women (n = 274) who sought prenatal care from one hospital in Turkey were recruited and asked to complete questionnaires that were developed by the researchers. Descriptive and inferential statistics were used to analyse the data. RESULTS: Almost half (44·2) % of the women were primiparas, and the majority (97·8%) were in the third trimester of pregnancy. Only 36·1% of the women reported that they had prenatal screening by either the double test or triple test. Women had a low level of knowledge regarding prenatal screening: the mean knowledge score was 3·43 ± 3·21 of a possible score of 10. Having consanguineous marriage, a history of spontaneous abortion, a child with genetic disorder, multiparity or a longer marriage duration were positively correlated with accepting a prenatal screening test. CONCLUSIONS: This study has provided baseline data on the uptake and reasons for accepting or declining a prenatal screening in a cohort of Turkish women. There is evidence to suggest that more education is needed to improve knowledge and provide comprehensive nursing care to promote informed consent in this context. RELEVANCE TO CLINICAL PRACTICE: Perinatal nurses are ideally situated to inform pregnant women about prenatal screening tests to improve access to healthcare services and to ensure informed decisions are made by pregnant women and their partners.


Assuntos
Síndrome de Down/diagnóstico , Testes Genéticos/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Cuidado Pré-Natal , Adulto , Estudos Transversais , Tomada de Decisões , Feminino , Humanos , Consentimento Livre e Esclarecido , Masculino , Serviços de Saúde Materna , Gravidez , Inquéritos e Questionários , Turquia
14.
J Strength Cond Res ; 31(11): 2955-2964, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29065076

RESUMO

Henríquez, S, Monsalves-Alvarez, M, Jimenez, T, Barrera, G, Hirsch, S, de la Maza, MP, Leiva, L, Rodriguez, JM, Silva, C, and Bunout, D. Effects of two training modalities on body fat and insulin resistance in postmenopausal women. J Strength Cond Res 31(11): 2955-2964, 2017-Our objective was to compare the effects of a low-load circuit resistance training protocol and usual aerobic training in postmenopausal women. Postmenopausal women with at least 1 feature of the metabolic syndrome were randomly allocated to a low-load circuit resistance training protocol or traditional aerobic training in a braked cycle ergometer. The intervention consisted in supervised sessions lasting 40 minutes, 3 times per week, during 6 months. At baseline and at the end of the intervention, fasting serum lipid levels, serum interleukin 6, C-reactive protein, 8 isoprostanes, and insulin resistance (assessed through QUICKI and HOMA-IR) were measured. Body fat was measured by double-beam X-ray absorptiometry and by computed tomography densitometric quantification at lumbar 3 vertebral level. Twenty-one women aged 58 (54-59) years were allocated to aerobic training and 21 women aged 55 (52-61) years were allocated to the low-load circuit resistance training protocol. Eighteen and 16 women in each group completed the 6 months training period. Women in both groups experienced significant reductions in blood pressure, total body, subcutaneous, and intraabdominal body fat. Reductions in total cholesterol and triacylglycerol levels were also observed. No changes in insulin resistance indexes, 8 isoprostanes, C-reactive protein, or interleukin 6 were observed in either group. No significant differences between treatment groups were observed in any of the measured parameters. We conclude that low-load circuit resistance training and aerobic training resulted in the same reductions in body fat and serum lipid levels.


Assuntos
Tecido Adiposo/fisiologia , Resistência à Insulina/fisiologia , Pós-Menopausa/fisiologia , Treinamento Resistido/métodos , Pressão Sanguínea , Composição Corporal/fisiologia , Proteína C-Reativa/análise , Feminino , Humanos , Interleucina-6/sangue , Gordura Intra-Abdominal , Lipídeos/sangue , Pessoa de Meia-Idade
15.
Geriatr Nurs ; 38(4): 347-351, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-25288053

RESUMO

To assess if there is an association between socioeconomic status and quality of life, functional status and markers of aging, we studied 86 women aged 73 ± 7 years, who answered the WHO Qol Bref quality of life survey. Mini mental state examination, timed up and go test, 12 minutes' walk, hand grip and quadriceps strength, dual X-ray absorptiometry (DEXA), carotid intima-media thickness and telomere length in peripheral leukocytes were measured. Successful aging was defined as a walking speed, handgrip strength, appendicular lean body mass, timed up and go and minimental values above cutoff points for disability. Participants with successful aging had a higher quality of life score and were more likely to live in rich municipalities. There was a positive correlation between telomere length, right handgrip strength and total fat free mass. Therefore, there is an association between socioeconomic status, successful aging and quality of life.


Assuntos
Envelhecimento/fisiologia , Força da Mão/fisiologia , Classe Social , Caminhada/fisiologia , Idoso , Composição Corporal , Feminino , Humanos , Força Muscular/fisiologia , Qualidade de Vida , Inquéritos e Questionários
16.
Rev Chil Pediatr ; 88(2): 199-206, 2017 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-28542653

RESUMO

Folate intake during pregnancy is essential for an adequate fetal and placental development and for the long time health of the individual. Its deficiency may induce fetal pathologies, including neural tube disease (NTD). Therefore, several countries implemented public policies to fortify foods with folic acid (FA). Chile started the fortification of wheat flour with FA in the year 2000, decreasing a 43% the prevalence of NTD. However, despite the high consumption of bread (the main fortified food with FA) by our population, a high number of pregnant women consume FA supplements, thus, over passing the maximal recommended FA intake. Additionally, if the diet is reduced in vitamin B12, the optimal ratio folates/vit B12 may be altered, thus inducing changes in the methylation of specific genes and other metabolic pathways, affecting fetal development and the long-term health of the neonates. We think that, after 16 years of the initiation of the fortification of wheat flour with FA, it is necessary to evaluate the possible side effects of a high intake of FA in the pregnant population and their offspring. This article shows antecedents about mechanisms of folates and vit B12 at cellular level, and their possible consequences of an elevated FA maternal intake on the offspring.


Assuntos
Suplementos Nutricionais , Ácido Fólico/administração & dosagem , Alimentos Fortificados , Pão , Dieta , Feminino , Humanos , Recém-Nascido , Gravidez , Cuidado Pré-Natal/métodos , Triticum/química , Vitamina B 12/administração & dosagem
17.
J Nurs Scholarsh ; 48(2): 179-86, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26836310

RESUMO

PURPOSE: This bibliometric review profiles the focus, dissemination, and impact of genomic nursing science articles from 2010 to 2014. DESIGN: Data-based genomic nursing articles by nursing authors and articles by non-nurse principal investigators funded by the National Institute of Nursing Research were categorized into the Genomic Nursing Science Blueprint nursing areas. METHODS: Bibliometric content analysis was used. FINDINGS: A total of 197 articles met the inclusion criteria. Of these, 60.3% were on biologic plausibility, 12.1% on client self-management, 11.1% on decision making or decision support, 8.1% on family, and 4.0% on communication, with the remaining 4.0% of articles focused on other topics. Few (11.6%) addressed healthcare disparities in the study purpose. Thirty-four references (17.2%) were cited 10 or more times. CONCLUSIONS: Research-based genomic nursing science articles are in the discovery phase of inquiry. All topics were investigated in more than one country. Healthcare disparities were addressed in few studies. Research findings from interdisciplinary teams were disseminated beyond nursing audiences, with findings addressing biologic discovery, decision making or support, and family being cited most frequently. Gaps in the reviewed articles included cross-cutting themes, ethics, and clinical utility. Interdisciplinary research is needed to document clinical and system outcomes of genomic nursing science implementation in health care. CLINICAL RELEVANCE: Although the review identifies areas that are encountered in clinical practice, relevance to practice will depend on evaluation of findings and subsequent development of clinical guidelines.


Assuntos
Bibliometria , Genômica , Pesquisa em Enfermagem , Humanos
18.
Ren Fail ; 38(3): 397-403, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26765359

RESUMO

Chronic renal disease (CRD) in its pre-dialysis stage is an important risk factor for mortality among adults. The aim of this study was to assess the effects of CRD on mortality among consultants in Chilean public primary care clinics. We obtained information about serum creatinine, urinary albumin excretion (UAE), blood pressure, and body mass index of 5224 consultants [3379 females aged 67 (59-75) years and 1845 males aged 68 (59-75) years] in three clinics of Metropolitan Santiago. Kaplan-Meier curves and Cox proportional hazard regression models were used to determine risk factors for mortality, determined 41 months after obtaining the blood samples. During the follow-up period, 262 patients died (33% due to circulatory causes and 29% due to tumors). Kaplan-Meier curves showed that there was a significant association between survival, estimated glomerular filtration rate, and UAE. Cox models showed that serum creatinine, UAE, a lower body mass index, and a history of diabetes were significant mortality predictors. A sensitivity analysis performed eliminating extreme ages (less than 50 and more than 80 years), included high diastolic pressure as a predictor of survival. We conclude that among patients with CRD in its pre-dialysis stage, UAE is an important predictor of survival, along with serum creatinine. A low body mass index was associated with a higher mortality.


Assuntos
Albuminúria/epidemiologia , Creatinina/sangue , Diabetes Mellitus/epidemiologia , Taxa de Filtração Glomerular , Insuficiência Renal Crônica/mortalidade , Idoso , Pressão Sanguínea , Índice de Massa Corporal , Chile/epidemiologia , Feminino , Humanos , Estimativa de Kaplan-Meier , Testes de Função Renal , Masculino , Pessoa de Meia-Idade , Atenção Primária à Saúde , Prognóstico , Modelos de Riscos Proporcionais , Fatores de Risco
19.
Nutr Cancer ; 67(4): 706-11, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25802929

RESUMO

Folic acid (FA) consumption at high levels has been associated with colon cancer risk. Several mechanisms have been proposed to explain this association. The Notch signal pathway has been implicated in the regulation of cellular proliferation. Our aim was to demonstrate that high concentrations of FA or its reduced form, 5-methyltetrahydrofolic acid (5-MTHF), increase colorectal carcinoma HT29 cell proliferation through an increase of Notch1 activation and to prove if the inhibition of Notch1 activation by gamma secretase inhibitor, reduce the effect of folic acid. HT29 cells were cultured in high (400 nM), low (20 nM), or 0 nM FA or 5-MTHF concentrations during 96 h with or without DAPT (gamma secretase inhibitor). Cell proliferation was determined by the methylthiazole tetrazolium method, and Notch1-intracellular domain (NICD) was analyzed by flow cytometry. HT29 cells exposed to 400 nM FA or 5-MTHF showed higher proliferation rate than those exposed to 20 nM of FA or 5-MTHF (P < 0.01) during 96 h. NICD expression increased at higher FA or 5-MTHF concentrations compared with lower concentrations (P < 0.01). This effect on proliferation was partially reversible when we blocked Notch1 activation with the inhibitor of γ-secretase (P < 0.05).These data suggest that high concentration of FA and 5-MTHF induce HT29 cell proliferation activating Notch1 pathway.


Assuntos
Proliferação de Células/efeitos dos fármacos , Ácido Fólico/farmacologia , Receptor Notch1/metabolismo , Secretases da Proteína Precursora do Amiloide/antagonistas & inibidores , Secretases da Proteína Precursora do Amiloide/metabolismo , Neoplasias do Colo/patologia , Receptor 1 de Folato/genética , Receptor 1 de Folato/metabolismo , Células HT29 , Humanos , Receptor Notch1/antagonistas & inibidores , Receptor Notch1/genética , Transdução de Sinais , Tetra-Hidrofolatos/farmacologia
20.
Nurs Outlook ; 63(4): 417-27, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26123776

RESUMO

Preparing the next generation of nursing scientists to conduct high-impact, competitive, sustainable, innovative, and interdisciplinary programs of research requires that the curricula for PhD programs keep pace with emerging areas of knowledge and health care/biomedical science. A field of inquiry that holds great potential to influence our understanding of the underlying biology and mechanisms of health and disease is omics. For the purpose of this article, omics refers to genomics, transcriptomics, proteomics, epigenomics, exposomics, microbiomics, and metabolomics. Traditionally, most PhD programs in schools of nursing do not incorporate this content into their core curricula. As part of the Council for the Advancement of Nursing Science's Idea Festival for Nursing Science Education, a work group charged with addressing omics preparation for the next generation of nursing scientists was convened. The purpose of this article is to describe key findings and recommendations from the work group that unanimously and enthusiastically support the incorporation of omics content into the curricula of PhD programs in nursing. The work group also calls to action faculty in schools of nursing to develop strategies to enable students needing immersion in omics science and methods to execute their research goals.


Assuntos
Comitês Consultivos , Biologia Computacional/educação , Currículo , Educação de Pós-Graduação em Enfermagem , Previsões , Humanos , Avaliação das Necessidades , Estados Unidos
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