RESUMEN
Chromosomal Microarray Analysis (CMA) has increased the comprehension of the mechanisms of copy number variation (CNV) formation, classification of these rearrangements, type of recurrence, and its origin, and has also been a powerful approach to identifying CNVs in individuals with intellectual disability. The aim of this study was to establish the parental origin of de novo pathogenic CNV in a cohort of patients with intellectual disability from the public health system of Goiás-Brazil. CMA was done in 76 trios and we identified 15 de novo pathogenic CNVs in 12 patients with intellectual disability. In a total of 15 de novo pathogenic CNV, 60% were derived from the maternal germline and 40% from the paternal germline. CNV flanked by low copy repeats (LCR) were identified in 46.7% and most of them were of maternal origin. No significant association was observed between paternal age and the mutation rate of de novo CNVs. The presence of high-identity LCRs increases the occurrence of CNV formation mediated by non-allelic homologous recombination and the majority of paternal CNVs are non-recurrent. The mechanism of formation of these CNV may have been by microhomology-mediated break-induced replication or non-homologous end joining.
RESUMEN
ABSTRACT Objective: To analyze how the journalistic media has described the issues of quality of life (QoL), physical activity (PA) and mental health (MH) of adolescents during the COVID-19 pandemic. Methods: This is a descriptive and qualitative study that used content analysis. Sixty-two journalistic publications were analyzed from a total of 8211 published by the most read newspapers in each Brazilian region between December 2019 and August 2021. Results: The results were grouped and evaluated in three categories: QoL (n=11), PA (n =9) and MH (n=42). In the analyzed period, the adolescents had more time of exposure to screens, contributing to an inadequate diet, a decrease in PA and impairments in QoL. According to the media publications, the pandemic has also contributed to an increase in anxiety, depression, loneliness and fear resulting from the mental and emotional disorganization caused by the abrupt change in routine. Social vulnerability was presented as an aggravating factor in this context. The journalistic media did not pay the necessary attention to adolescents regarding the negative consequences of the pandemic on QoL, PA and MH. Conclusions: The analyzed reports showed that the pandemic caused a decrease in social interaction, feelings of uncertainty, fear and the appearance/exacerbation of symptoms of anxiety, stress and depression. Social vulnerability was presented as another obstacle to be faced in this problem.
RESUMO Objetivo: Analisar como a mídia jornalística tem descrito as questões de qualidade de vida (QV), atividade física (AF) e saúde mental (SM) de adolescentes durante a pandemia da COVID-19. Métodos: Trata-se de um estudo descritivo e qualitativo que utilizou a análise de conteúdo. Foram analisadas 62 publicações jornalísticas do total de 8.211 veiculadas pelos jornais mais lidos de cada região brasileira entre dezembro de 2019 e agosto de 2021. Resultados: Os resultados foram agrupados e avaliados em três categorias: QV (n=11), AF (n=9) e SM (n=42). No período analisado as publicações jornalísticas sugerem que os adolescentes apresentaram maior tempo de exposição a telas, contribuindo para uma alimentação inadequada, diminuição da AF e prejuízos na QV. A pandemia também contribuiu com aumento da ansiedade, depressão, solidão e medo resultantes da desorganização mental e emocional causada pela mudança abrupta de rotina. A vulnerabilidade social apresentou-se como um fator agravante nesse contexto. As mídias jornalísticas não deram a atenção necessária aos adolescentes no que se refere às consequências negativas da pandemia na QV, AF e SM. Conclusões: As reportagens analisadas mostraram que a pandemia causou diminuição na interação social, sentimentos de incerteza, medo e o aparecimento/exacerbação de sintomas de ansiedade, estresse e depressão. A vulnerabilidade social apresentou-se como mais um obstáculo a ser enfrentado nesta problemática.
RESUMEN
OBJECTIVE: To analyze how the journalistic media has described the issues of quality of life (QoL), physical activity (PA) and mental health (MH) of adolescents during the COVID-19 pandemic. METHODS: This is a descriptive and qualitative study that used content analysis. Sixty-two journalistic publications were analyzed from a total of 8211 published by the most read newspapers in each Brazilian region between December 2019 and August 2021. RESULTS: The results were grouped and evaluated in three categories: QoL (n=11), PA (n =9) and MH (n=42). In the analyzed period, the adolescents had more time of exposure to screens, contributing to an inadequate diet, a decrease in PA and impairments in QoL. According to the media publications, the pandemic has also contributed to an increase in anxiety, depression, loneliness and fear resulting from the mental and emotional disorganization caused by the abrupt change in routine. Social vulnerability was presented as an aggravating factor in this context. The journalistic media did not pay the necessary attention to adolescents regarding the negative consequences of the pandemic on QoL, PA and MH. CONCLUSIONS: The analyzed reports showed that the pandemic caused a decrease in social interaction, feelings of uncertainty, fear and the appearance/exacerbation of symptoms of anxiety, stress and depression. Social vulnerability was presented as another obstacle to be faced in this problem.
Asunto(s)
COVID-19 , Humanos , Adolescente , Pandemias , Calidad de Vida , Investigación Cualitativa , Ansiedad/epidemiologíaRESUMEN
Pulmonary function is usually assessed by measuring Vital Capacity (VC) using equipment such as a spirometer or ventilometer, but these are not always available to the population, as they are relatively expensive tests, difficult to transport and require trained professionals. However, the single breath counting technique (SBCT) appears as a possible alternative to respiratory function tests, to help in the pathophysiological understanding of lung diseases. The objective is to verify the applicability of the SBCT as a parameter for evaluating VC. This is a systematic review registered in the International Prospective Register of Systematic Reviews (CRD42023383706) and used for PubMed®, Scientific Electronic Library Online, LILACS, EMBASE, and Web of Science databases of articles published until January 2023. Methodological quality regarding the risk of bias was assessed using Quality Assessment of Diagnostic Accuracy Studies-2 and National Institutes of Health tools. Eleven of a total of 574 studies were included, of these, nine showed a correlation between VC and SBCT (weak in healthy, moderate in neuromuscular and strong in hospitalized patients). One study of hospitalized patients accurately identified a count value of 21 for a VC of 20 ml kg-1(Sensitivity = 94% and Specificity = 77%), and another estimated a count lower than 41 for a VC below 80% of predicted in patients with neuromuscular dystrophy (Sensitivity = 89% and Specificity = 62%), and another showed good intra and inter-examiner reproducibility in young, adult, and elderly populations. A meta-analysis of three studies showed a moderate correlation in subjects with neuromuscular diseases (r= 0.62, 95% CI = 0.52-0.71,p< 0.01). A high risk of bias was identified regarding the justification of the sample size and blinding of the evaluators. SBCT has been presented as an alternative to assess VC in the absence of specific equipment. There is a clear relationship between SBCT and VC, especially in neuromuscular and hospitalized individuals. New validation studies conducted with greater control of potential bias risks are necessary.
Asunto(s)
Pruebas Respiratorias , Pulmón , Estados Unidos , Adulto , Humanos , Anciano , Reproducibilidad de los Resultados , Capacidad Vital/fisiología , EspirometríaRESUMEN
BACKGROUND: The pulmonary impairment in patients with bronchoconstriction induced by eucapnic voluntary hyperpnea(EVH) goes beyond the respiratory system, also impairing autonomic nervous modulation. This study aimed to evaluate the behavior of cardiac autonomic modulation in young asthmatics with and without EIB after the EVH test. RESEARCH DESIGN AND METHODS: A cross-sectional study design using 54 asthmatics(51.9% female), aged between 10 and 19 years, investigated with the EVH test. Forced expiratory volume in one second(FEV1) was measured at 5, 10, 15, and 30 min after EVH. Heart rate variability(HRV) measures of time were assessed pre and 30 min-post EVH. The diagnosis of Exercise-Induced bronchoconstriction with underlying clinical asthma(EIBA) was confirmed by a fall in FEV1 ≥10% compared to baseline. RESULTS: Thirty(55.5%) asthmatics had EIBA. Subjects with EIBA have reduced mean of the R-R intervals in relation to baseline until 15 minutes after EVH. Individuals without EIBA had increased parasympathetic activity compared to baseline(rMSSD) from 5 min after EVH(p < 0.05). This parasympathetic activity increase in relation to baseline was seen in individuals with EIBA after 25 minutes (rMSSD = 49.9 ± 5.3 vs 63.5 ± 7.2, p < 0.05). CONCLUSION: Young asthmatics with EIBA present a delay in the increase of the parasympathetic component after EVH when compared to asthmatics without EIBA.
Asunto(s)
Asma Inducida por Ejercicio , Asma , Humanos , Femenino , Adolescente , Niño , Adulto Joven , Adulto , Masculino , Asma Inducida por Ejercicio/diagnóstico , Estudios Transversales , Pulmón , Broncoconstricción/fisiología , Volumen Espiratorio Forzado/fisiologíaRESUMEN
OBJECTIVE: To assess the short-term outcome of rapid maxillary expansion (RME) on periodic limb movement disorder (PLMD) in children with residual snoring after late adenotonsillectomy (AT). METHODS: This prospective clinical trial included 24 patients treated with rapid maxillary expansion (RME). Participants' inclusion criteria were children with maxillary constriction aged 5-12 years who had AT for more than two years and those whose parents/guardians reported that they still snored ≥4 nights per week. Of which 13 had primary snoring, and 11 had OSA. All patients underwent laryngeal nasofibroscopy evaluation and complete polysomnography. The Quality of life (QOL) Questionnaire (OSA-18), the Pediatric Sleep Questionnaire (PSQ), the Conners Abbreviated Scale (CAE), and the Epworth Sleep Scale (ESS) were applied before and after palatal expansion. RESULTS: The OSA 18 domain, PSQ total, CAE, and ESS scores were significantly reduced in both groups (p < 0.001). There was a decrease in PLMS indices. In the total sample, the mean decreased significantly from 4.15 to 1.08. In the Primary Snoring group, the mean decreased from 2.64 to 0.99; in the OSA group, the average decreased significantly from 5.95 to 1.19. CONCLUSION: This preliminary study suggests that the improvement of PLMS in the OSA group with maxillary constriction is correlated with a favorable neurological impact of the treatment. We suggest a multi-professional approach to the treatment of sleep disorders in children.
Asunto(s)
Síndromes de la Apnea del Sueño , Apnea Obstructiva del Sueño , Humanos , Niño , Técnica de Expansión Palatina , Calidad de Vida , Ronquido/terapia , Sueño , Síndromes de la Apnea del Sueño/diagnóstico , Síndromes de la Apnea del Sueño/terapia , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/terapiaRESUMEN
BACKGROUND: To determine whether biological and sociodemographic factors at birth and current factors are associated with insufficient physical activity during leisure among Brazilian adolescents. METHODS: A school-based cross-sectional study with national coverage was conducted involving Brazilian adolescents 12 to 17 years of age in municipalities with more than 100 thousand residents. The sample consisted of 74,589 adolescents who participated in the Study of Cardiovascular Risk in Adolescents. Insufficient leisure-time physical activity was categorized based on total volume (<300 minutes/week = insufficiently active; >300 minutes/week = sufficiently active). Poisson regression models were used to assess associated factors. RESULTS: Most adolescents were classified as insufficiently active (54.8%; 95%CI: 53.7-55.9). The variables associated with insufficient physical activity during leisure were the female sex (70.4%; 95%CI: 68.8-71.9), age between 15 and 17 years (57.8%; 95%CI: 56.3-59.2), pertaining to the low or middle class (54.5%; 95%CI: 52.8-56.1), and not being overweight (55.9%; 95%CI: 54.6-57.1). CONCLUSION: Contrary to our hypothesis, birth related factors (e.g., low birth weight, preterm birth and exclusive breastfeeding until 6 months of age) are not associated with physical inactivity. The prevalence of insufficient physical activity during leisure was high among the adolescents evaluated and was associated with sociodemographic characteristics as well as nutritional status. It is necessary to implement strategies focused on physical activity at schools.
Asunto(s)
Nacimiento Prematuro , Conducta Sedentaria , Adolescente , Brasil/epidemiología , Estudios Transversales , Femenino , Humanos , Recién Nacido , Actividades Recreativas , Factores SocioeconómicosRESUMEN
Ultra-processed drinks (UPDs) consumption is increasing, and this intake has been associated with the risk of illness and death. Data on individuals (n = 430) and food stores (n = 231) were collected in an economically vulnerable area in Recife-Brazil, and multilevel regression models were applied to assess the association between UPDs consumption with food environment characteristics. The results show 29.5% of individuals consume UPDs, higher UPD consumption was significantly associated with age (OR: 0.96), lower educational levels (OR:2.06), high density of stores predominantly selling UPFs (OR:2.34) and lower availability of FV in stores (OR:0.49). The applied methodology can inform food environment interventions to reduce UPDs consumption.
Asunto(s)
Comida Rápida , Poblaciones Vulnerables , Brasil , Humanos , Análisis MultinivelRESUMEN
Young people can have negative repercussions on their mental health, quality of life and on illnesses related to physical inactivity due to social isolation and fear of the disease (Covid-19). This study aimed to analyze the impact of the Covid-19 pandemic on the quality of life, level of physical activity and mental health of university students. College students (16-24 years old) completed an online interview, considering possible changes in mental health, quality of life and physical activity level, evaluating the moment before and during the pandemic. The recruitment strategy of the participants was the snowball type. 1,167 young people (69.2%-women) attended in the study, of which 8.8% had a confirmed diagnosis of Covid-19. There was a worsening in all scores of quality of life, stress and depression during the pandemic when compared to the period prior to the pandemic (p < 0.001). The pandemic also increased inactivity among young people (49.1% vs 28%, p < 0.001). Female students, from the health area, who had their own home and who did not have confirmed diagnosis of Covid-19 showed increased stress in the pandemic period. The Covid-19 pandemic worsened the indicators of mental health, quality of life and level of physical activity among university students. It is noteworthy that despite not being a risk group for the aggravation of the disease and consequent higher mortality, restrictions related to the pandemic limited or prevented the movement of people and this isolation can represent important changes in health in the medium and long term in this population
Jovens podem ter repercussões negativas em sua saúde mental, qualidade de vida e em doenças relacionadas com a inatividade física devido ao isolamento social e medo da doença (Covid-19). Este estudo teve como objetivo analisar o impacto da pandemia da Covid-19 na qualidade de vida, nível de atividade física e saúde mental de jovens universitários. Jovens universitários (16 a 24 anos) completaram uma entrevista online, considerando possíveis mudanças na saúde mental, qualidade de vida e nível de atividade física considerando o momento anterior e durante a pandemia. A estratégia de recrutamento dos participantes foi do tipo bola de neve. Participaram 1.167 jovens (69,2% mulheres), dos quais 8,8% tiveram diagnóstico de Covid-19 confirmado. Houve uma piora em todos os escores de qualidade de vida, estresse e depressão durante a pandemia quando comparados com o período anterior à pandemia (p < 0,001). A pandemia também aumentou a inatividade nos jovens (49% vs 28%, p < 0,001). Estudantes do sexo feminino, da área de saúde, que tinham casa própria e que não tiveram diagnóstico confirmado de Covid-19 apresentaram aumento do estresse no período pandêmico. A pandemia Covid-19 piorou os indicadores de saúde mental, qualidade de vida e nível de atividade física de jovens universitários. Chama atenção que apesar de não ser um grupo de risco para o agravamento da doença e consequente maior mortalidade, restrições relacionadas a pandemia limitaram ou evitaram a circulação de pessoas e esse isolamento pode representar importantes modificações na saúde a médio e longo prazo nesse público
Asunto(s)
Selección de Personal , Calidad de Vida , Ejercicio Físico , Salud Mental , Adolescente , CoronavirusRESUMEN
Abstract Objectives: to analyze factors associated with neonatal death among adolescent mothers. Methods: randomized hospital-based cross-sectional study in a tertiary institution,, data from the Sistema de Informação sobre Nascidos Vivos (Sinasc), (Live Birth Information System), Sistema de Informação sobre Mortalidade (SIM) (Mortality Information System), and medical records. The study population was comprised of 1,341 adolescents aged 10-19 who had assisted childbirth at the institution between 2012 to 2016. The independent variables were sociodemographic characteristics, care, prenatal, childbirth, birth, and newborn's hospitalization, as well as the baby's characteristics. Logistic regression analysis was carried out to assess the association between neonatal death and explanatory variables. Results: the factors associated with death were from the countryside or other States (OR=2.68; CI95% =1.24-5.81), Apgar scores lower than 7 in the 1st (OR= 9.52; CI95% = 4.15-21.81) and the 5th (OR=4.17; CI95%=1.53-11.34) minutes of life; and birth weight less than 999g (OR=13.37; CI95% =3, 64-49.04) and between 1,500 to 2,499g (OR=3.43; CI95%=1.37-8.58). Conclusions: apgar and low birth weight were associated with the neonatal death among adolescent mothers, as well as the fact they come from the countryside and other States. These findings show, in addition to classic risks, potential difficulties for adolescents in having access to healthcare services in their hometown. To reduce the risks, there is a need for restructuring the maternal and child healthcare network and ensure a social protection network for these girls.
Resumo Objetivos: analisar fatores associados ao óbito neonatal de mães adolescentes. Métodos: estudo transversal de base hospitalar em instituição terciária, randomizado, com dados do Sistema de Informação sobre Nascidos Vivos (Sinasc), Sistema de Informação sobre Mortalidade (SIM) e de prontuários. A população do estudo compreendeu 1.341 adolescentes de 10 a 19 anos assistidos durante o parto na instituição entre 2012 a 2016. As variáveis independentes foram características sociodemográficas, assistenciais, relacionadas ao pré-natal, parto, nascimento e internamento do recém-nascido, além das características do bebê. Realizou-se análise de regressão logística para avaliar a associação entre óbito neonatal e variáveis explanatórias. Resultados: os fatores associados ao óbito foram municípios do interior e outros estados (OR=2,68; IC95%=1,24-5,81), índices de apgar menor que sete no 1º(OR=9,52; IC95%=4,15-21,81) e no 5º(OR=4,17; IC95%=1,53-11,34) minutos de vida e peso ao nascer menor que 999g (OR=13,37; IC95%= 3,64-49,04) e entre 1500 a 2499g (OR=3,43; IC95%= 1,37-8,58). Conclusões: o apgar e o baixo peso ao nascer se associaram ao óbito neonatal de mães adolescentes além da procedência de municípios do interior e outros estados. Estes achados mostram além de riscos clássicos, potenciais dificuldade das adolescentes em dispor de assistência nos seus lugares de residência. Para reduzir os riscos há necessidade de reorganizar a rede assistencial materno-infantil e garantir uma rede de proteção social a estas meninas.
Asunto(s)
Humanos , Femenino , Embarazo , Recién Nacido , Niño , Adolescente , Adulto , Embarazo en Adolescencia , Factores de Riesgo , Causas de Muerte , Muerte Perinatal/etiología , Puntaje de Apgar , Atención Prenatal , Factores Socioeconómicos , Atención Terciaria de Salud , Brasil , Recién Nacido de Bajo Peso , Estudios Transversales , Servicios de Salud Materno-InfantilRESUMEN
Introdução: A autopercepção da saúde analisa as condições de saúde considerando aspectos biológicos, psicológicos e sociais, sendo um instrumento norteador das necessidades em saúde de uma população. Objetivo: Este artigo avaliou a autopercepção da saúde e seus fatores associados em usuários frequentadores de grupos de emagrecimento da atenção básica à saúde do município de Vitória de Santo Antão-PE. Métodos: Foi realizado um estudo transversal analítico com 24 usuários. A autopercepção da saúde foi analisada através da pergunta "Como você considera o seu estado de saúde?", sendo as respostas agrupadas em positiva e negativa e associadas com as condições demográficas e socioeconômicas, de saúde e estilo de vida, perfil alimentar e estado nutricional. Resultados: A prevalência da autopercepção negativa foi de 83,3%, sendo associada a uma maior ingestão diária de medicamentos (p=0,017) e o não seguimento aos Dez Passos Para Uma Alimentação Saudável (p=0,010). Conclusão: A elevada prevalência da autopercepção negativa da saúde indica a necessidade de maior entendimento sobre como os fatores associados ao processo saúde-doença influenciam a forma como o sujeito percebe sua própria saúde, de modo a promover intervenções específicas e efetivas em saúde nessa população.
Introduction: Self-perceived health analyzes health conditions considering biological, psychological and social aspects, and constitutes an instrument to guide the health needs of a population. Objective: This article evaluated the self-perception of health and its associated factors in users of weight loss groups in primary healthcare in the city of Vitória de Santo Antão-PE, Brazil. Methods: A cross-sectional analytical study was conducted with 24 users. Self-perceived health was analyzed through the question "How do you consider your health status?", with positive and negative responses being grouped and associated with demographic and socioeconomic conditions, health and lifestyle, diet profile and nutritional status. Results: The prevalence of negative self-perceived health was 83.3%, being associated with a higher daily intake of medication (p = 0.017) and failure to follow the Ten Steps to Healthy Eating (p = 0.010). Conclusion: The high prevalence of negative self-perceived health indicates a need for greater understanding of how the factors associated with the health-disease process influence the way a subject perceives their own health in order to promote specific and effective health interventions in this population.
Asunto(s)
Humanos , Masculino , Femenino , Atención Primaria de Salud , Autoimagen , Imagen Corporal , Pérdida de Peso , Proceso Salud-Enfermedad , Estado de Salud , Brasil , Estudios Transversales , Insatisfacción Corporal , NegativismoRESUMEN
ABSTRACT Purpose: to evaluate the reliability of the maximum phonation time (MPT) and Vital Capacity intra and inter-examiner, by means of the single-breath counting test (CT) and the sustained /a/ phoneme, and the slow vital capacity (SVC). Methods: a reliability study carried out in three groups of healthy individuals, each group with 30 volunteers, allocated according to age. SVC was measured using a spirometer, while the MPT was assessed by the phoneme /a/ and CT. The data were analyzed using SPSS version 20.0. Initially, descriptive statistics were used and for data reliability, the intraclass correlation coefficient (ICC). Results: the Intraclass Correlation Coefficients (ICC) were considered excellent, with significant results above 0.92 for SVC and greater than 0.79 for CT and phoneme /a/. Regarding the inter-examiner evaluation, the ICCs were also significant for both SVC with values greater than 0.96, and for CT and the phoneme /a/ with values greater than 0.85. The error inherent in the technique was assessed using the standard error of the measurement for intra and inter-examiner analyses with values ranging from 1.79 to 3.29 for phoneme /a/, 3.20 to 6.58 for CT and 65, 05 to 206.73 for SVCml. Conclusion: phonation techniques with the phoneme /a/ and CT, as well as SVC, have an excellent reliability, due to intra and inter-examiner agreement measures.
RESUMO Objetivo: avaliar a concordância do tempo máximo de fonação (TMF) com a Capacidade Vital, intra e interexaminador, por meio da técnica de contagem numérica em uma única respiração (TC) e do fonema /a/ sustentado e da capacidade vital lenta (CVL). Métodos: trata-se de um estudo de concordância realizado em três grupos de indivíduos saudáveis, cada grupo com 30 voluntários, alocados de acordo a idade. A CVL foi mensurada por meio do espirômetro, enquanto o TMF foi avaliado pela emissão do fonema/a/ e da TC. Os dados foram analisados pelo programa SPSS versão 20.0. Inicialmente utilizou-se estatística descritiva e para concordância dos dados foi utilizado o coeficiente de correlação intraclasse (CCI). Resultados: os Coeficientes de Correlação Intraclasse (CCI) intraexaminadores foram considerados excelentes, com resultados significantes acima de 0,92 para a CVL e maiores que 0.79 para a TC e fonema/a/. Em relação à avaliação interexaminadores, os CCIs também foram significantes tanto para a CVL com valores maiores que 0,96 quanto para a TC e o fonema/a/ com valores maiores que 0,85. O erro inerente a técnica foi avaliada por meio do erro padrão da medida para as analises intra e interexaminadores com valores que variaram de 1,79 a 3,29 para fonema/a/, 3,20 a 6,58 para TC e 65,05 a 206,73 para CVLml. Conclusão: as técnicas de fonação com o fonema /a/ e TC, assim como a CVL, demonstraram uma excelente concordância intra e interexaminadores.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Adulto Joven , Fonación/fisiología , Capacidad Vital/fisiología , Espirometría , Factores de Tiempo , Variaciones Dependientes del ObservadorRESUMEN
We aimed to estimate the rate of germline mutations in the offspring of individuals accidentally exposed to Cesium-137 ionizing radiation. The study included two distinct groups: one of cases, consisting of males and females accidentally exposed to low doses of ionizing radiation of Cs137, and a control group of non-exposed participants. The cases included 37 people representing 11 families and 15 children conceived after the accident. Exposed families incurred radiation absorbed doses in the range of 0.2 to 0.5 Gray. The control group included 15 families and 15 children also conceived after 1987 in Goiânia with no history of radiation exposure. DNA samples from peripheral blood were analyzed with the Affymetrix GeneChip® CytoScanHD™ to estimate point mutations in autosomal SNPs. A set of scripts previously developed was used to detect de novo mutations by comparing parent and offspring genotypes at the level of each SNP marker. Overall numbers of observed Mendelian deviations were statistically significant between the exposed and control groups. Our retrospective transgenerational DNA analysis showed a 44.0% increase in the burden of SNP mutations in the offspring of cases when compared to controls, based on the average of MFMD for the two groups. Parent-of-origin and type of nucleotide substitution were also inferred. This proved useful in a retrospective estimation of the rate of de novo germline mutations in a human population accidentally exposed to low doses of radiation from Cesium-137. Our results suggested that observed burden of germline mutations identified in offspring was a potentially useful biomarker of effect to estimate parental exposure to low doses of IR and could become an important marker suitable for biomonitoring human population exposed to environmental mutagens.
Asunto(s)
Radioisótopos de Cesio/efectos adversos , Técnicas de Genotipaje/métodos , Mutación de Línea Germinal , Polimorfismo de Nucleótido Simple , Exposición a la Radiación/efectos adversos , Adolescente , Adulto , Sustitución de Aminoácidos , Estudios de Casos y Controles , Niño , Preescolar , Desastres , Femenino , Humanos , Lactante , Masculino , Análisis de la Aleatorización Mendeliana , Persona de Mediana Edad , Linaje , Radiación Ionizante , Liberación de Radiactividad Peligrosa , Estudios Retrospectivos , Adulto JovenRESUMEN
OBJECTIVE: To investigate context of overweight adolescents from the semiarid and rural areas of Pernambuco, considering the multifactorial nature of the determinants of being overweight, and the food and nutritional insecurity conditions of the region. METHODS: A population based cross-sectional study was conducted from September to October 2015. The nutritional status of adolescents was assessed by body mass index (BMI) and classified by the BMI/Age indicator, according to sex. To analyze the factors associated with being overweight, the variables were grouped into: socioeconomic, demographic, environmental, lifestyle, psychological, biological and food and nutritional security. Poisson regression was used to verify the association between being overweight and independent variables. RESULTS: The prevalence of excessive weight found was 20.1%, namely: 13.4% overweight and 6.7% obese. After adjusting for the confounding variables, the variables: occupancy situation (rented house), alcohol consumption, food security and light food insecurity, body perception (overweight and obese) and age range (10 to 14 years), were associated with being overweight. High food and nutritional insecurity was identified in 80.4% of the population. The moderate and severe forms were more frequent, and precarious social conditions were still prevalent in the region. CONCLUSIONS: The prevalence of being overweight was high, exceeding the expected for a population with better living conditions. The determinants of being overweight were: alcohol consumption, occupancy situation, self-perceived weight, age and food security/mild food insecurity.
Asunto(s)
Abastecimiento de Alimentos/normas , Estado Nutricional/fisiología , Sobrepeso/epidemiología , Adolescente , Índice de Masa Corporal , Brasil/epidemiología , Niño , Estudios Transversales , Demografía/tendencias , Exposición a Riesgos Ambientales/efectos adversos , Femenino , Abastecimiento de Alimentos/estadística & datos numéricos , Humanos , Estilo de Vida , Masculino , Obesidad/epidemiología , Sobrepeso/psicología , Prevalencia , Autoimagen , Factores Socioeconómicos , Consumo de Alcohol en Menores/psicologíaRESUMEN
ABSTRACT Objective: To investigate context of overweight adolescents from the semiarid and rural areas of Pernambuco, considering the multifactorial nature of the determinants of being overweight, and the food and nutritional insecurity conditions of the region. Methods: A population based cross-sectional study was conducted from September to October 2015. The nutritional status of adolescents was assessed by body mass index (BMI) and classified by the BMI/Age indicator, according to sex. To analyze the factors associated with being overweight, the variables were grouped into: socioeconomic, demographic, environmental, lifestyle, psychological, biological and food and nutritional security. Poisson regression was used to verify the association between being overweight and independent variables. Results: The prevalence of excessive weight found was 20.1%, namely: 13.4% overweight and 6.7% obese. After adjusting for the confounding variables, the variables: occupancy situation (rented house), alcohol consumption, food security and light food insecurity, body perception (overweight and obese) and age range (10 to 14 years), were associated with being overweight. High food and nutritional insecurity was identified in 80.4% of the population. The moderate and severe forms were more frequent, and precarious social conditions were still prevalent in the region. Conclusions: The prevalence of being overweight was high, exceeding the expected for a population with better living conditions. The determinants of being overweight were: alcohol consumption, occupancy situation, self-perceived weight, age and food security/mild food insecurity.
RESUMO Objetivo: Investigar o excesso de peso em adolescentes do Sertão e Agreste de Pernambuco, considerando a multifatoriedade dos determinantes do excesso de peso e as condições de insegurança alimentar e nutricional da região. Métodos: Estudo transversal, de base populacional, realizado no período de setembro a outubro de 2015. O estado nutricional dos adolescentes foi avaliado pelo índice de massa corpórea (IMC) e classificado pelo indicador IMC/idade, segundo o sexo. Para analisar os fatores associados ao excesso de peso, as variáveis foram agrupadas em: socioeconômicas, demográficas, ambientais, de estilo de vida, psicológicas, biológicas e segurança alimentar e nutricional. A regressão de Poisson foi utilizada para verificar a associação entre o excesso de peso e as variáveis independentes. Resultados: A prevalência de excesso de peso encontrada foi de 20,1%, sendo 13,4% de sobrepeso e 6,7% de obesidade. Após o ajuste para as variáveis de confusão, as variáveis regime de ocupação (casa cedida, alugada), consumo de álcool, segurança alimentar, insegurança alimentar leve, percepção corporal (sobrepeso e obesidade) e faixa etária (10 a 14 anos) mostraram-se associadas ao excesso de peso. Destaca-se a elevada insegurança alimentar e nutricional, em 80,4% da população, sendo as formas moderadas e graves as mais frequentes, como também as precárias condições sociais ainda prevalentes na região. Conclusões: A prevalência de excesso de peso foi elevada, superando o esperado para uma população com melhores condições de vida. Os determinantes do excesso de peso foram: consumo de álcool, regime de ocupação, autopercepção do peso, faixa etária e segurança alimentar/insegurança alimentar leve.
Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Estado Nutricional/fisiología , Sobrepeso/epidemiología , Abastecimiento de Alimentos/normas , Autoimagen , Factores Socioeconómicos , Brasil/epidemiología , Índice de Masa Corporal , Demografía/tendencias , Prevalencia , Estudios Transversales , Exposición a Riesgos Ambientales/efectos adversos , Sobrepeso/psicología , Consumo de Alcohol en Menores/psicología , Abastecimiento de Alimentos/estadística & datos numéricos , Estilo de Vida , Obesidad/epidemiologíaRESUMEN
ABSTRACT Objective: To assess the level of physical activity in asthmatics in comparison with non-asthmatics in a population study. Methods: Cross-sectional study with 13 to 14-year-old adolescents who participated in the International Study of Asthma and Allergies in Childhood (ISAAC). The subjects were classified into three groups: individuals with active asthma, individuals diagnosed with asthma, and respiratory asymptomatic individuals. To evaluate the level of physical activity, the International Physical Activity Questionnaire (IPAQ-short version) was used. The analysis consisted of comparing individuals with active asthma, diagnosed as asthmatic and asymptomatic, with a significance level of 5%. Results: The participants were 1,591 adolescents, of which 791 (49.7%) were male. There were 222 (14.0%) individuals with active asthma and 284 (17.8%) asthma diagnoses; 55% of the population were physically active. Adolescents diagnosed with asthma were more active than their non-asthmatic peers (64.4 versus 53.3%; p=0.001). Conclusions: Adolescents diagnosed with asthma were more physically active than their non-asthmatic peers.
RESUMO Objetivo: Avaliar o nível de atividade física (AF) em asmáticos, comparando com não asmáticos, em estudo populacional. Métodos: Estudo transversal com adolescentes de 13 a 14 anos que participaram do estudo International Study of Asthma and Allergies in Childhood (ISAAC). Os indivíduos foram classificados em três grupos: indivíduos com asma ativa, indivíduos com diagnóstico de asma e assintomáticos respiratórios. Para avaliar o nível de AF, foi utilizado o Questionário Internacional de Atividade Física (IPAQ) versão curta. A análise consistiu na comparação de indivíduos com asma ativa, com diagnóstico de asma e assintomáticos, sendo o nível de significância considerado de 5%. Resultados: Participaram da pesquisa 1.591 adolescentes, 791 (49,7%) do sexo masculino. Apresentaram asma ativa 222 (14,0%) indivíduos e diagnóstico de asma 284 (17,8%). Foram fisicamente ativos 55,1% da população. Adolescentes com diagnóstico de asma foram mais ativos do que seus pares não asmáticos (64,4 versus 53,3%; p=0,001). Conclusões: Adolescentes com diagnóstico de asma apresentavam-se fisicamente mais ativos do que seus pares não asmáticos.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Salud del Adolescente/estadística & datos numéricos , Asma/diagnóstico , Asma/fisiopatología , Asma/psicología , Asma/epidemiología , Brasil/epidemiología , Ejercicio Físico/fisiología , Ejercicio Físico/psicología , Estudios Transversales , Encuestas y CuestionariosRESUMEN
OBJECTIVE: To assess the level of physical activity in asthmatics in comparison with non-asthmatics in a population study. METHODS: Cross-sectional study with 13 to 14-year-old adolescents who participated in the International Study of Asthma and Allergies in Childhood (ISAAC). The subjects were classified into three groups: individuals with active asthma, individuals diagnosed with asthma, and respiratory asymptomatic individuals. To evaluate the level of physical activity, the International Physical Activity Questionnaire (IPAQ-short version) was used. The analysis consisted of comparing individuals with active asthma, diagnosed as asthmatic and asymptomatic, with a significance level of 5%. RESULTS: The participants were 1,591 adolescents, of which 791 (49.7%) were male. There were 222 (14.0%) individuals with active asthma and 284 (17.8%) asthma diagnoses; 55% of the population were physically active. Adolescents diagnosed with asthma were more active than their non-asthmatic peers (64.4 versus 53.3%; p=0.001). CONCLUSIONS: Adolescents diagnosed with asthma were more physically active than their non-asthmatic peers.
Asunto(s)
Asma , Ejercicio Físico , Adolescente , Salud del Adolescente/estadística & datos numéricos , Asma/diagnóstico , Asma/epidemiología , Asma/fisiopatología , Asma/psicología , Brasil/epidemiología , Estudios Transversales , Ejercicio Físico/fisiología , Ejercicio Físico/psicología , Femenino , Humanos , Masculino , Encuestas y CuestionariosRESUMEN
ABSTRACT Purpose: to identify the accuracy of the single-breath counting test to determine slow vital capacity in hospitalized patients and to evaluate the repeatability of the same examiner. Methods: a diagnostic study and the choice of techniques were randomly assigned. The area under the curve (receiver operating characteristic) was calculated from the slow vital capacity (20ml/kg) to evaluate the best psychometric characteristics of single-breath counting Test for this cutoff point. Repeatability observed by the same examiner was assessed using the Intraclass Correlation Coefficient. Results: 516 patients hospitalized for various diseases were analyzed. In the curve analysis (receiver operating characteristic/slow vital capacity=20ml/Kg), the value of 21 in single-breath counting test with a sensitivity of 94.44% and specificity of 76.62% (area under the curve =0.93, p<0.005) was found. The intraclass correlation coefficient value for the single-breath counting test was 0.976 with p>0.005. Conclusion: the single-breath counting test was a valid and repetitive technique, and may be an important screening option for assessment of lung function in the absence of specific equipment. This technique opens perspectives to replace slow vital capacity measurement in hospitals, which lack spirometric equipment, or in patients who may have a contagious disease, which has a risk of contamination and spread of disease from one patient to another.
RESUMO Objetivo: identificar a acurácia do teste de contagem em uma única respiração para determinar a capacidade vital lenta em pacientes hospitalizados e avaliar sua repetibilidade entre o mesmo examinador. Métodos: estudo de diagnóstico em que a escolha das técnicas foi aleatoriamente atribuída. A área sob a curva (característica de operação do receptor) foi calculada a partir da capacidade vital lenta (20ml/kg) para avaliar as melhores características psicométricas do teste de contagem em uma única respiração para este ponto de corte. A repetibilidade observada pelo mesmo examinador foi avaliada usando o coeficiente de correlação intraclasse. Resultados: foram analisados (característica de operação do receptor/capacidade vital lenta=20ml/Kg), foi encontrado o valor de 21 em teste de contagem em uma única respiração com uma sensibilidade de 94,44% e especificidade de 76,62% (área abaixo da curva=0,93, p<0,005). O valor do coeficiente de correlação intraclasse para o teste de contagem foi 0,976 com p>0,005. Conclusão: o teste de contagem em uma única respiração foi uma técnica válida, repetitiva e pode ser uma importante opção de rastreamento para avaliação da função pulmonar na ausência de equipamentos específicos. Essa técnica abre perspectivas no que se refere à substituição da medição da capacidade vital lenta em hospitais que não possuem equipamento espirométrico ou em pacientes que apresentam uma doença contagiosa com risco de contaminação e propagação de doença de um paciente para outro.
RESUMEN
OBJECTIVE: To identify the prevalence of iron-deficiency anemia and associated factors in women at reproductive age in the city of Vitoria de Santo Antão, Pernambuco. METHODS: Cross-sectional study with a representative sample of 322 women aged between 15 and 49 years. Anemia was diagnosed by measuring hemoglobin below 12 g/dL. The independent variables were: demographic and socioeconomic conditions (age, race/color, education, literacy, presence of children aged < 5 years in the household, regime of residence occupation, ownership of assets, and per capita income), housing conditions (number of people in the household, number of bedrooms, and basic sanitation), food and nutrition security and women's health conditions (menarche, number of pregnancies, history of miscarriages, body mass index, and ferritin). Poisson regression was used to analyze the factors associated with anemia. RESULTS: The mean age of women surveyed was 31.1 ± 6.61 years old (standard deviation - SD) and the prevalence of anemia was 18.6% (95%CI 14.7 - 23.3). After multivariate analysis, anemia was significantly associated with age ≤ 19 years and low ferritin. CONCLUSION: The prevalence of anemia is characterized as a mild public health problem and follows the world trend in developing countries.
Asunto(s)
Anemia Ferropénica/epidemiología , Adolescente , Adulto , Brasil/epidemiología , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , Factores Socioeconómicos , Salud Urbana , Adulto JovenRESUMEN
The radiological accident in Goiania in 1987 caused a trail of human contamination, animal, plant and environmental by a radionuclide. Exposure to ionizing radiation results in different types of DNA lesions. The mutagenic effects of ionizing radiation on the germline are special concern because they can endures for several generations, leading to an increase in the rate of mutations in children of irradiated parents. Thus, to evaluate the biological mechanisms of ionizing radiation in somatic and germline cells, with consequent determination of the rate mutations, is extremely important for the estimation of genetic risks. Recently it was established that Chromosomal Microarray Analysis is an important tool for detecting wide spectra of gains or losses in the human genome. Here we present the results of the effect of accidental exposure to low doses of ionizing radiation on the formation of CNVs in the progeny of a human population accidentally exposed to Caesium-137 during the radiological accident in Goiânia, Brazil.