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1.
Rev. bras. med. esporte ; 29(spe1): e2022_0182, 2023. tab, graf
Article in English | LILACS | ID: biblio-1394848

ABSTRACT

ABSTRACT Introduction Ensuring healthy growth with high cultural quality in the population is an important part of Chinese revitalization. University students, as a group of high cultural quality, have the mission and responsibility entrusted by the state and the people. It is believed that these goals can be achieved by using sports dance, which has a wide range and high demands; dancers should have motor skills, physical qualities, understanding of the art of dress, and psychological balance as basic requirements. Objective To test and evaluate whether sports dance activities in physical education students are conducive to promoting students' healthy physical development. Methods This paper examines the influence of teaching sports dance on the physical health of female college students in Ethnic Colleges and its countermeasures. It also discusses the strategies for teaching sports dance to provide viable suggestions for follow-up dance instruction. Conclusion The combination of sports and femininity in exercise has a good fitness effect, improves the artistic feelings of college women, and is conducive to the healthy development of the physical quality of college women. Level of evidence III; Analysis based on alternatives and limited costs.


RESUMO Introdução Garantir o crescimento saudável com alta qualidade cultural na população é parte importante da revitalização chinesa. Estudantes universitários, como um grupo de alta qualidade cultural, possuem a missão e responsabilidade confiada pelo Estado e pelo povo. Acredita-se que essas metas possam ser alcançadas utilizando a dança esportiva, que tem um vasto leque e altas exigências nesse sentido, os dançarinos devem ter habilidades motoras, qualidades físicas, compreensão na arte de vestuário e equilíbrio psicológico, como requisitos básicos. Objetivo Testar e avaliar se as atividades de dança esportiva nos alunos de educação física são propícias na promoção do desenvolvimento físico saudável dos alunos. Métodos Este artigo analisa a influência do ensino de dança esportiva sobre a saúde física de universitárias em Faculdades Étnicas e suas contramedidas. Também se discute as estratégias de ensino da dança esportiva, a fim de fornecer sugestões viáveis para o ensino de dança de acompanhamento. Conclusão A combinação de esportes e feminilidade no exercício tem um bom efeito de aptidão física, melhora os sentimentos artísticos das universitárias e é propício ao desenvolvimento saudável da qualidade física das Universitárias. Nível de evidência III; Análises baseadas em alternativas e custos limitados.


RESUMEN Introducción Garantizar un crecimiento saludable con una alta calidad cultural en la población es una parte importante de la revitalización de China. Los universitarios, como grupo de alta calidad cultural, tienen la misión y la responsabilidad encomendadas por el Estado y el pueblo. Se cree que estos objetivos pueden alcanzarse mediante el uso de la danza deportiva, que tiene una amplia gama y altas exigencias en este sentido, los bailarines deben tener habilidades motoras, cualidades físicas, la comprensión en el arte de vestir y el equilibrio psicológico como requisitos básicos. Objetivo Comprobar y evaluar si las actividades de danza deportiva en los estudiantes de educación física favorecen el desarrollo físico saludable de los alumnos. Métodos Este trabajo analiza la influencia de la enseñanza de la danza deportiva en la salud física de las estudiantes universitarias de los colegios étnicos y sus contramedidas. También se analizan las estrategias de enseñanza de la danza deportiva con el fin de ofrecer sugerencias viables para el seguimiento de la enseñanza de la danza. Conclusión La combinación de deporte y feminidad en el ejercicio tiene un buen efecto de aptitud física, mejora los sentimientos artísticos de las universitarias y favorece el desarrollo saludable de la calidad física de las universitarias. Nivel de evidencia III; análisis basado en alternativas y costes limitados.


Subject(s)
Humans , Female , Sports/physiology , Dance Therapy , Dancing/physiology , Physical Education and Training , School Health Services , Students , Ethnology , Health Impact Assessment , Models, Theoretical
2.
Memorandum ; 38: [1-29], jan.2021.
Article in Portuguese | LILACS | ID: biblio-1352843

ABSTRACT

O objetivo deste artigo é descrever a representação dos ciganos no panteão umbandista e modos característicos de uso e o sentido psicológico da sua inclusão neste contexto. Para esse efeito foram realizadas pesquisa etnográfica e consulta a banco de dados com registros audiovisuais de rituais umbandistas e entrevistas com médiuns incorporados e não incorporados por espíritos da linha cigana. A análise de dados foi feita a partir da identificação dos pontos de convergência nas observações diretas e indiretas (registros audiovisuais),nas entrevistas e no diário de campo. Em seguida foi feita uma comparação com o que a literatura refere relativamente às outras categorias de espíritos. Encontrou-se que a chamada linha dos ciganos, de um ponto de vista etnopsicológico, não agrega novos conteúdos simbólicos à umbanda, mas reorienta sentidos previamente existentes, numa perspectiva de futuro.


The purpose of this paper is to describe the representation of gypsies in the Umbanda pantheon and the characteristic ways of using it and the psychological sense of its inclusion in this context. For this purpose, ethnographic research was carried out and a database was consulted with audiovisual records of Umbanda rituals and interviews with mediums incorporated and not incorporated by gypsy spirits. Data analysis was performed based on the identification of points of convergence, that is, the elements that were repeated in direct and indirect observations (audiovisual records), in interviews and in the field notes. Then a comparison was made with what the literature refers to in relation to other categories of spirits. It was found that the so-called gypsy line, from an ethnopsychological point of view, does not add new symbolic content to Umbanda, but rather redirects previously existing meanings in a perspective of the future.


Subject(s)
Ethnology , Religion and Psychology , Rome , Ceremonial Behavior
3.
Article in English | WPRIM | ID: wpr-828974

ABSTRACT

Objective@#To detect the effects of shortwave radiation on dose-dependent cardiac structure and function in rats after radiation and to elucidate the mechanism of shortwave radiation induced cardiac injury to identify sensitive indicators and prophylactic treatment.@*Methods@#One hundred Wistar rats were either exposed to 27 MHz continuous shortwave at a power density of 5, 10, and 30 mW/cm for 6 min or undergone sham exposure for the control (the rats had to be placed in the exposure system with the same schedules as the exposed animals, but with an inactive antenna). The Ca , glutamic oxaloacetic transaminase (AST), creatine kinase (CK) and lactate dehydrogenase (LDH) content in the peripheral serum of the rats were detected by an automatic blood biochemical analyser. The electrocardiogram (ECG) of standard lead II was recorded by a multi-channel physiological recording and analysis system. The cardiac structure of rats was observed by light and electron microscopy.@*Results@#The results showed that the 5, 10, and 30 mW/cm shortwave radiation caused a significant increased in the levels of Ca , AST, CK, and LDH in the peripheral serum of rats. The cardiac structure was damaged by radiation and showed a disordered arrangement of myocardial fibres, the cavitation and swelling of myocardial mitochondria. These injuries were most significant 7 d after radiation and were not restored until 28 d after radiation.@*Conclusion@#Shortwave radiation of 5, 10, and 30 mW/cm can damage rat cardiac function, including damage to the tissue structure and ultrastructure, especially at the level of the myocardial fibres and mitochondria. Shortwave radiation at 5, 10, and 30 mW/cm induced damage to rat heart function and structure with a dose-effect relationship, i.e., the greater the radiation dose was, the more significant the damage was.


Subject(s)
Animals , Dose-Response Relationship, Radiation , Heart , Radiation Effects , Heart Diseases , Ethnology , Pathology , Male , Myocardium , Pathology , Radio Waves , Random Allocation , Rats , Rats, Wistar
4.
Article in English | WPRIM | ID: wpr-826290

ABSTRACT

OBJECTIVE@#To verify the association between sleep duration and television time with cardiometabolic risk and the moderating role of age, gender, and skin color/ethnicity in this relationship among adolescents.@*METHODS@#Cross-sectional study with 1411 adolescents (800 girls) aged 10 to 17 years. Television time, sleep duration, age, gender, and skin color/ethnicity were obtained by self-reported questionnaire. Cardiometabolic risk was evaluated using the continuous metabolic risk score, by the sum of the standard z-score values for each risk factor: high-density lipoprotein cholesterol, triglycerides, glycemia, cardiorespiratory fitness, systolic blood pressure, and waist circumference. Generalized linear regression models were used.@*RESULTS@#There was an association between television time and cardiometabolic risk (β, 0.002; 95% CI, 0.001; 0.003). Short sleep duration (β, 0.422; 95% CI, 0.012; 0.833) was positively associated with cardiometabolic risk. Additionally, age moderated the relationship between television time and cardiometabolic risk (β, - 0.009; 95% CI, - 0.002; - 0.001), suggesting that this relationship was stronger at ages 11 and 13 years (β, 0.004; 95% CI, 0.001; 0.006) compared to 13 to 15 years (β, 0.002; 95% CI, 0.001; 0.004). No association was found in older adolescents (β, 0.001; 95% CI, - 0.002; 0.002).@*CONCLUSIONS@#Television time and sleep duration are associated with cardiometabolic risk; adolescents with short sleep have higher cardiometabolic risk. In addition, age plays a moderating role in the relationship between TV time and cardiometabolic risk, indicating that in younger adolescents the relationship is stronger compared to older ones.


Subject(s)
Age Factors , Brazil , Epidemiology , Cardiovascular Diseases , Epidemiology , Ethnology , Cross-Sectional Studies , Metabolic Syndrome , Epidemiology , Ethnology , Prevalence , Risk Factors , Sedentary Behavior , Ethnology , Sex Factors , Sleep , Television
5.
Fractal rev. psicol ; 31(spe): 249-255, set.-dez. 2019.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1056230

ABSTRACT

A Etnopsiquiatria, fundada por Geroges Devereux, surge enquanto possibilidade de refletir o encontro intercultural e seus desdobramentos quanto à compreensão do adoecimento psíquico e à coerência entre terapêuticas e etiologias deste adoecimento. A síntese teórica que levou à criação da disciplina emerge de inflexões baseadas principalmente nos estudos de Freud, Malinowski, Róheim e de contribuições posteriores de Lévi-Strauss e Bastide. Tobie Nathan é responsável pela criação do modelo de intervenção que coloca em prática a aplicação da teoria. Este artigo visa apresentar o histórico dos princípios precursores que levaram Devereux à síntese teórica e à criação da Etnopsiquiatria e expor as considerações da experiência adquirida na aplicação da disciplina pelo modelo proposto por Nathan e multiplicado por outros clínicos. Do postulado da universalidade do psiquismo que se constitui na particularidade da cultura, compreende-se uma relação intrínseca existente entre cultura e psiquismo, em que a cultura utiliza-se dos mesmos elementos, processos e mecanismos de defesa do psiquismo. Adotando o duplo discurso - Psicanálise e Etnologia - a disciplina define-se complementarista. A Etnopsiquiatria surge enquanto possibilidade diante da lacuna que a lógica da psiquiatria ocidental deixou para explicar o adoecimento psíquico e seu modelo de intervenção viabiliza o posicionamento de aprendiz no encontro intercultural.(AU)


The Ethnopsychiatry founded by Geroges Devereux emerged as a possibility to reflectabout the intercultural encounter and its unfolding regarding the understanding of psychological disorders and the coherence between therapeutics and etiologies of this psychopathological states. The theoretical thesis that led to the creation of the discipline arises from inflections based mainly on the studies from Freud's, Malinowski's and Rheheim's theory, along with later contributions by Lévi-Strauss and Bastide. Tobie Nathan is later credited for creating an intervention clinical model and a practice. This article aims to present the history of the precursory principles that led Devereux to the theoretical thesis and the resulting creation of Ethnopsychiatry and also to make considerations about the experience acquired in the application of the model of practice proposed by Nathan and multiplied by other clinicians. From the postulate of the universality of the psychological structure which is particularily constituted by culture, the discipline comprises an intrinsic relation existing between culture and the psychic functioning, in which culture uses the same elements, processes and defense mechanisms as the psyche. Adopting the double discourse method - Psychoanalysis and Ethnology -the discipline defines itself as complementary. Ethnopsychiatry emerges as a possibility to look at the gap that Western psychiatry left to explain psychological disorders, as well as to show how its model of intervention advocates to position the discipline as an apprentice in the intercultural encounter.(AU)


Subject(s)
Psychiatry , Culture , Ethnology
6.
Movimento (Porto Alegre) ; 25(1): e25049, jan.- dez. 2019. Figuras
Article in Spanish | LILACS | ID: biblio-1048489

ABSTRACT

Este artículo tiene como objetivo clarificar y ordenar el proceso de institucionalización de la Expresión Corporal en España ante la escasez y fragmentación de investigaciones sobre los aspectos históricos que incidieron en las principales situaciones político-educativas y autores que la han configurado. Para ello, en primer lugar se ha realizado un análisis de documentos científicos y legales para profundizar en nuestro objeto de estudio. En segundo lugar, se han utilizado las entrevistas informales realizadas durante una observación etnográfica no participante y 16 entrevistas semiestructuradas. Como conclusión, la Expresión Corporal en España se encuentra condicionada por la situación histórica y por su sistema educativo. Además, se identifican geográficamente la Expresión Corporal del Noreste y la Expresión Corporal del Centro-Suroeste. A su vez, los autores han sido clasificados en dos generaciones que contribuyeron al proceso de creación, institucionalización y consolidación de la disciplina


Este artigo tem como objetivo esclarecer o processo de institucionalização da Expressão Corporal na Espanha perante a escassez e a fragmentação das investigações sobre aspectos históricos que incidam sobre as principais situações políticas educativas e autores que a configuraram. Para isso, em primeiro lugar realizou-se uma análise de documentos científicos e jurídicos que permitem aprofundar o nosso tema de estudo. Em segundo lugar, recorreu-se às entrevistas informais realizadas durante uma observação etnográfica não participante e 16 entrevistas semiestruturadas. Como conclusão, a Expressão Corporal na Espanha encontra- se condicionada pela situação histórica e pelo seu sistema educativo. Além disso, identificam-se geograficamente a Corporação do Noroeste e a Corporação do Centro-Sudoeste. Por seu turno, os autores foram classificados em duas gerações que contribuíram para o processo de criação, institucionalização e consolidação da disciplina


This article explains and organizes the process of institutionalization of Bodily Expression in Spain considering the absence and fragmentation of research on historical aspects that impacted on the main political and educational situations and the authors that shaped it. To that end, scientific and legal documents were examined in order to elaborate on the object of study. Secondly, the study used informal interviews conducted during non-participant ethnographic observation and 16 semi-structured interviews. It found that Bodily Expression in Spain has been influenced by the country's historical context and educational system. Furthermore, it identified a Bodily Expression of the NorthEast and a Body Expression of the Centre and South-West. its authors were classified into two generations that contributed to the process of creation, institutionalization and consolidation of the discipline


Subject(s)
Humans , Physical Education and Training , Public Policy , Kinesics , Sociology , Ethnology
7.
Rev. Kairós ; 22(1): 421-435, mar. 2019.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1022484

ABSTRACT

Em busca de aprofundamento de algumas das representações do velho na sociedade brasileira, propusemos este trabalho que tem como objetivo estudar o Arquétipo do Velho na perspectiva de uma religião tipicamente brasileira: a Umbanda. Dois Orixás, Nanã Buruquê e Obaluaê, e as Entidades chamadas de Pretos Velhos, são aqueles que melhor representam o Arquétipo do Velho. A própria manifestação corporal de tais energias nos rituais de Umbanda traz, de modo inequívoco, símbolos ligados à velhice. É comum que os participantes dos rituais incorporem conhecimentos simbólicos e significados relativos aos Orixás e Entidades nela cultuados. O Arquétipo do Velho nessa religião representa o conhecimento adquirido ao longo do tempo, as experiências vividas, a sabedoria adquirida, a maturidade e a paciência. Estes são alguns de seus traços mais marcantes. A Umbanda lida com o envelhecimento e o Arquétipo do Velho como elementos essenciais para o processo de evolução da vida e sua importância no processo de individuação de cada um de nós. Neste estudo buscamos fazer uma correlação desse princípio arquetípico com o Arquétipo Puer-Senex da teoria de Carl Gustav Jung. No desenvolvimento da Psicologia Analítica, Jung mostra esse Arquétipo como elemento fundamental para a constituição do sujeito no seu processo de individuação.


In order to deepen some of the representations of the old in Brazilian society, we proposed this work that aims to study the Archetype of the Old from the perspective of a typical Brazilian religion: Umbanda. Two Orixás, Nanã Buruquê and Obaluaê, and the Entities called Old Blacks are the ones that best represent the Old Archetype. The very bodily manifestation of such energies in Umbanda rituals unmistakably carries symbols linked to old age. It is common for ritual participants to incorporate symbolic knowledge and meanings concerning the Orixás and Entities worshiped there. The Old Man Archetype in this religion represents knowledge gained over time, lived experience, acquired wisdom, maturity, and patience. These are some of its most striking traits. Umbanda deals with aging and the Old Archetype as essential elements in the process of life evolution and its importance in the individuation process of each of us. In this study we seek to correlate this archetypal principle with the Puer-Senex Archetype of Carl Gustav Jung's theory. In the development of Analytical Psychology, Jung shows this Archetype as a fundamental element for the constitution of the subject in his individuation process.


Para profundizar algunas de las representaciones de lo antiguo en la sociedad brasileña, propusimos este trabajo que tiene como objetivo estudiar el Arquetipo de lo Antiguo desde la perspectiva de una religión típica brasileña: Umbanda. Dos Orixás, Nanã Buruquê y Obaluaê, y las Entidades llamadas Viejos Negros son las que mejor representan el Arquetipo Antiguo. La manifestación muy corporal de tales energías en los rituales de Umbanda lleva inequívocamente símbolos relacionados con la vejez. Es común que los participantes en rituales incorporen conocimiento simbólico y significados relacionados con los Orixás y las Entidades adoradas allí. El arquetipo del anciano en esta religión representa el conocimiento adquirido con el tiempo, la experiencia vivida, la sabiduría adquirida, la madurez y la paciencia. Estos son algunos de sus rasgos más llamativos. Umbanda se ocupa del envejecimiento y del arquetipo antiguo como elementos esenciales en el proceso de evolución de la vida y su importancia en el proceso de individualización de cada uno de nosotros. En este estudio buscamos correlacionar este principio arquetípico con el Arquetipo de Puer-Senex de la teoría de Carl Gustav Jung. En el desarrollo de la Psicología Analítica, Jung muestra este Arquetipo como un elemento fundamental para la constitución del sujeto en su proceso de individuación.


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Religion , Aging , Religion and Medicine , Religion and Psychology , Ceremonial Behavior , Ethnology
8.
Article in English | WPRIM | ID: wpr-773420

ABSTRACT

OBJECTIVE@#We aimed to evaluate the combined effects of a high body shape index (ABSI) and a high serum C-reactive protein (CRP) level on the incidence of ischemic stroke in a Mongolian population in China.@*METHODS@#A prospective cohort study was conducted among 2,589 participants from June 2002 to July 2012 in Inner Mongolia, China. The participants were categorized into 4 groups according to their level of ABSI and CRP. Cox proportional hazards models were used to assess the hazard ratios (HRs) and 95% confidence intervals (CIs) for ischemic stroke among all groups.@*RESULTS@#The multivariate adjusted HRs (95% CI) of ischemic stroke for high ABSI and high CRP level were 1.46 (0.89-2.39) and 1.63 (0.95-2.79), respectively. Compared with the low ABSI/low CRP level group, the multivariate adjusted HRs (95% CI) of ischemic stroke in the low ABSI/high CRP, high ABSI/low CRP, and high ABSI/high CRP groups were 1.04 (0.46-2.35), 1.06 (0.58-1.95) and 2.52 (1.27-5.00), respectively. The HR of ischemic stroke for the high ABSI/high CRP level group was the highest and most statistically significant.@*CONCLUSION@#We found that participants with simultaneously high ABSI and high CRP levels had the highest risk of ischemic stroke in the Mongolian population. Our findings suggest that the combination of high ABSI and high CRP levels may increase the risk of ischemic stroke.


Subject(s)
Adult , Aged , Anthropometry , Brain Ischemia , Epidemiology , C-Reactive Protein , Metabolism , China , Epidemiology , Female , Humans , Incidence , Male , Middle Aged , Mongolia , Ethnology , Proportional Hazards Models , Prospective Studies , Risk Factors , Stroke , Epidemiology
9.
Hist. ciênc. saúde-Manguinhos ; 25(2): 541-552, abr.-jun. 2018.
Article in English | LILACS | ID: biblio-953878

ABSTRACT

Abstract This paper explores the methods used by Julio Tello to address the antiquity of syphilis in ancient Peru, examining his thesis La antigüedad de la sífilis en el antiguo Perú to understand the logic behind the procedures he used to test his hypothesis. The contention presented here is that despite being a medical thesis, his text can actually be considered an exploration of the origins of syphilis using a truly anthropological method, making Tello a pioneer in the subfield of medical anthropology in the Andes.


Resumen Este artículo analiza el método utilizado por Julio Tello en la investigación de la antigüedad de la sífilis en el antiguo Perú, examinando su tesis La antigüedad de la sífilis en el antiguo Perú, con la finalidad de comprender la lógica detrás de los procedimientos utilizados para evaluar su hipótesis. A pesar de ser una tesis en medicina, el trabajo de Tello puede ser considerado como un trabajo en el cual se utiliza el método antropológico en la evaluación del origen de la sífilis, convirtiéndose Tello en un pionero en el campo de la antropología médica en los Andes.


Subject(s)
Humans , History, Ancient , History, Medieval , History, 20th Century , Syphilis/history , Anthropology, Medical/history , Peru , Archaeology/history , Ethnology/history
10.
Article in English | WPRIM | ID: wpr-777667

ABSTRACT

BACKGROUND@#The rs1520220 polymorphism in the insulin-like growth factor 1 (IGF1) gene has been reported to affect cancer susceptibly in several studies. However, the results of the relevant studies are inconsistent. We conduct a current meta-analysis to investigate the association between rs1520220 and cancer susceptibly.@*METHODS@#Three databases (PubMed, Embase, and Web of Science) were searched for studies regarding the relationship between rs1520220 and cancer susceptibly. Odds ratios (ORs) and the related 95% confidence intervals (CIs) were employed to assess the strength of the associations. A stratified analysis was performed according to cancer type, ethnicity, and quality score, and when results were obtained from no fewer than two studies, these results were pooled.@*RESULTS@#There was no positive association between rs1520220 and overall cancer risk. However, the analysis stratified by ethnicity revealed that rs1520220 significantly increased cancer susceptibility in Asian populations (allele model OR = 1.10, 95%Cl = 1.00-1.21, p = 0.040; homozygote model OR = 1.22, 95%Cl = 1.01-1.47, p = 0.040; dominant model OR = 1.19, 95%Cl = 1.01-1.39, p = 0.033). No significantly association was detected in Caucasian populations. The analysis stratified by cancer type suggested that rs1520220 was not associated with susceptibility to breast cancer.@*CONCLUSIONS@#The results of our meta-analysis demonstrate that the role of IGF1 rs1520220 in cancer susceptibility varies by ethnicity and cancer type and that rs1520220 increases cancer susceptibility in Asian populations.


Subject(s)
Asians , Racial Groups , Gene Frequency , Genetic Predisposition to Disease , Humans , Insulin-Like Growth Factor I , Genetics , Neoplasms , Ethnology , Genetics , Odds Ratio , Polymorphism, Single Nucleotide
11.
Neuroscience Bulletin ; (6): 981-991, 2018.
Article in English | WPRIM | ID: wpr-777006

ABSTRACT

Chromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6% (59 out of 434). This gave a detection rate of 14.7% for developmental delay/intellectual disability (DD/ID, 38/259) and 12% for autism spectrum disorders (ASDs, 21/175). Thirty-three recurrent (n ≥ 2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes (such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes). The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results (94.9%) had benefits, allowing earlier diagnosis (36/59), prioritized full clinical management (28/59), medication changes (7/59), a changed prognosis (30/59), and prenatal genetic counseling (15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential. We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.


Subject(s)
Age Factors , Child , Child, Preschool , China , Epidemiology , Ethnology , Chromosome Disorders , Genetics , Chromosomes , Genetics , DNA Copy Number Variations , Genetics , Disease Management , Female , Humans , Infant , Male , Microarray Analysis , Methods , Neurodevelopmental Disorders , Diagnosis , Ethnology , Genetics
12.
Article in Chinese | WPRIM | ID: wpr-773305

ABSTRACT

OBJECTIVE@#This study aims to investigate the association between human leucocyte antigen (HLA)-DQB1 allele polymorphisms and the presence dental caries among the Uygur and Han children in Xinjiang.@*METHODS@#HLA-DQB1 allele in the Uygur and Han children with dental caries and healthy control in Xinjiang was tested (n=40) using the polymerase chain reaction-sequence specific primer (PCR-SSP) DNA parting technology.@*RESULTS@#A total of five specific loci were detected in the HLA-DQB1 locus among the Uygur and Han children. The frequency of the HLA-DQB1*02 allele in the Han group with severe caries (12.5%) was significantly lower than in the control group (32.5%) (P<0.05, OR=0.297). Moreover, the frequency of the HLA-DQB1*05 allele in the Uygur group with severe caries (37.5%) was significantly higher than in the control group (17.5%) (P<0.05, OR=2.829).@*CONCLUSIONS@#Caries susceptibility among the Uygur and Han children in Xinjiang is related to the HLA-DQB1 allele. The HLA-DQB1*02 allele may protect against caries among the Han children, whereas the HLA-DQB1*05 allele may be responsible for the susceptibility of the Uygur children to caries.


Subject(s)
Alleles , Asians , Child , China , Dental Caries , Ethnology , Genetics , Gene Frequency , Genetic Predisposition to Disease , HLA-DQ beta-Chains , Genetics , Humans , Polymerase Chain Reaction , Polymorphism, Genetic
13.
Article in English | WPRIM | ID: wpr-772968

ABSTRACT

The isolated type of orofacial cleft, termed non-syndromic cleft lip with or without cleft palate (NSCL/P), is the second most common birth defect in China, with Asians having the highest incidence in the world. NSCL/P involves multiple genes and complex interactions between genetic and environmental factors, imposing difficulty for the genetic assessment of the unborn fetus carrying multiple NSCL/P-susceptible variants. Although genome-wide association studies (GWAS) have uncovered dozens of single nucleotide polymorphism (SNP) loci in different ethnic populations, the genetic diagnostic effectiveness of these SNPs requires further experimental validation in Chinese populations before a diagnostic panel or a predictive model covering multiple SNPs can be built. In this study, we collected blood samples from control and NSCL/P infants in Han and Uyghur Chinese populations to validate the diagnostic effectiveness of 43 candidate SNPs previously detected using GWAS. We then built predictive models with the validated SNPs using different machine learning algorithms and evaluated their prediction performance. Our results showed that logistic regression had the best performance for risk assessment according to the area under curve. Notably, defective variants in MTHFR and RBP4, two genes involved in folic acid and vitamin A biosynthesis, were found to have high contributions to NSCL/P incidence based on feature importance evaluation with logistic regression. This is consistent with the notion that folic acid and vitamin A are both essential nutritional supplements for pregnant women to reduce the risk of conceiving an NSCL/P baby. Moreover, we observed a lower predictive power in Uyghur than in Han cases, likely due to differences in genetic background between these two ethnic populations. Thus, our study highlights the urgency to generate the HapMap for Uyghur population and perform resequencing-based screening of Uyghur-specific NSCL/P markers.


Subject(s)
Asians , Genetics , China , Ethnology , Cleft Lip , Genetics , Cleft Palate , Genetics , Genome-Wide Association Study , Humans , Infant , Logistic Models , Machine Learning , Methylenetetrahydrofolate Reductase (NADPH2) , Genetics , Polymorphism, Single Nucleotide , Retinol-Binding Proteins, Plasma , Genetics , Risk Assessment
14.
Chinese Medical Journal ; (24): 171-179, 2018.
Article in English | WPRIM | ID: wpr-771589

ABSTRACT

BACKGROUND@#Interleukin (IL)-37, also called IL1F7, is a natural inhibitor of inflammatory and immune responses. It is involved in the pathogenesis of rheumatoid arthritis (RA). This study aimed to investigate the role of IL1F7 gene polymorphism in RA susceptibility in a large cohort of patients.@*METHODS@#Five selected single-nucleotide polymorphisms in IL1F7 genes (rs2723186, rs3811046, rs4241122, rs4364030, and rs4392270) were genotyped by TaqMan Allelic Discrimination in Northern Chinese Han population. The allele and the genotype were compared between patients with RA and healthy controls. Association analyses were performed on the entire data set and on different RA subsets based on the status of the anti-cyclic citrullinated peptide antibody and the rheumatoid factor by logistic regression, adjusting for age and gender.@*RESULTS@#Trend associations were detected between rs2723186, rs4241122, rs4392270, and RA in Stage I (160 patients with RA; 252 healthy controls). Further validation in Stage II comprised 730 unrelated patients with RA (mean age: 54.9 ± 12.6 years; 81.6% females) and 778 unrelated healthy individuals (mean age: 53.5 ± 15.7 years; 79.5% females). No significant differences in the distributions of alleles and genotypes were observed between the case and control groups in both the entire set and the different RA subsets. Disease activity and age of RA onset were also not associated with genotype distributions.@*CONCLUSION@#IL1F7 gene polymorphism does not significantly influence RA susceptibility in the Northern Chinese Han population.


Subject(s)
Adult , Aged , Arthritis, Rheumatoid , Genetics , Asians , Genetics , Case-Control Studies , China , Ethnology , Female , Genetic Predisposition to Disease , Genotype , Humans , Interleukin-1 , Genetics , Male , Middle Aged , Polymorphism, Single Nucleotide
15.
Article in English | WPRIM | ID: wpr-690634

ABSTRACT

The objective of this study was to evaluate the usefulness of the China-PAR equations in predicting the 10-year risk of cardiovascular disease (CVD) in the Inner Mongolians population. A population-based, prospective cohort of 2,589 Mongolians were followed up from 2003 to 2012. Participants were categorized into 4 subgroups according to their 10-year CVD risks calculated using the China-PAR equations: < 5%, 5%-9.9%, 10%-19.9%, and ⪖ 20%. The China-PAR equations discriminated well with good C statistics (range, 0.76-0.86). The adjusted hazard ratios for CVD showed an increasing trend among the 4 subgroups (P for trend < 0.01). However, the China-PAR equations underestimated the 10-year CVD risk in Mongolians, and the calibration was unsatisfactory (Hosmer-Lemeshow χ2 = 19.98, P < 0.01 for men, χ2 = 46.58, P < 0.001 for women). The performance of the China-PAR equations warrants further validation in other ethnic groups in China.


Subject(s)
Asians , Cardiovascular Diseases , Epidemiology , Cerebrovascular Disorders , Epidemiology , China , Epidemiology , Cohort Studies , Female , Humans , Incidence , Male , Middle Aged , Mongolia , Ethnology , Proportional Hazards Models , Prospective Studies , Risk Assessment , Risk Factors
16.
Article in English | WPRIM | ID: wpr-690045

ABSTRACT

<p><b>INTRODUCTION</b>We studied the effects of ethnicity on early infant growth patterns in exclusively breast-fed (EBF) infants from a Singaporean multiethnic population. This was a prospective cohort study conducted in National University Hospital, Singapore.</p><p><b>MATERIALS AND METHODS</b>Healthy, EBF infants born at-term completing 37 weeks and above, and whose birthweight was appropriate for gestational age (>10 centile, <90 centile) were recruited. Infants were required to be EBF at least until the minimum age of weaning. All infants who were preterm and premature, formula-fed, required Intensive/High Dependency care, or born with major congenital anomalies were excluded. A multivariable linear regression analysis was conducted at 5 predetermined time-points (birth; 4-8 weeks; 3-4, 5-8, 12 months) to study the effects of antenatal/parental factors on infant growth.</p><p><b>RESULTS</b>A total of 213 infants were recruited. Maternal age, height and body mass index positively influenced birthweights while maternal hypertension and paternal smoking negatively influenced birthweights. Mean duration of breastfeeding was 8.9 months. Chinese ethnicity did not influence birth anthropometry, but was the single consistent factor that significantly increased weight and length Z-scores from 4-8 weeks until 8 months of life. Chinese ethnicity did not influence head growth throughout the first year of life.</p><p><b>CONCLUSION</b>EBF Chinese infants have increased weights and lengths compared to non-Chinese infants until 8 months' age, despite similar birth anthropometry. This period of discrepant growth coincides with the average duration of breastfeeding. We hypothesise that ethnic variations in breast milk macronutrient composition influence early somatic growth in infants.</p>


Subject(s)
Anthropometry , Methods , Asians , Birth Weight , Body Mass Index , Breast Feeding , Ethnology , Child Development , Physiology , Ethnicity , Female , Gestational Age , Humans , Infant , Infant, Newborn , Male , Singapore , Epidemiology
17.
Article in Chinese | WPRIM | ID: wpr-689635

ABSTRACT

<p><b>OBJECTIVE</b>To study the association between the prevalence of overweight/obesity and copy number variations (CNVs) among Han, Uyghur, and Kazak children in Xinjiang, China.</p><p><b>METHODS</b>The kindergartens in Ili, Altay, and Karamay in Xinjiang were selected as research sites, and stratified cluster sampling was used to select the children aged 3-7 years. Body height and body weight were measured, and exfoliated buccal mucosa cells were collected. CNVplex® was used to measure the CNVs of FTO_1, IRX3_1, IRX3_2, MC4R_1, and MC4R_2.</p><p><b>RESULTS</b>A total of 603 children were surveyed (307 boys and 296 girls). There were 261 Han children, 194 Uyghur children, and 148 Kazak children. The overweight/obesity rates in Han, Uyghur, and Kazak children were 28.3%, 10.3%, and 31.1%, respectively (P<0.001). In Kazak children, the CNVs of IRX3_1 and MC4R_2 were associated with overweight/obesity (P<0.05). The multivariate logistic regression analysis showed that the risk of overweight/obesity in Han and Kazak children was 3.443 times (95%CI: 2.016-5.880) and 3.924 times (95%CI: 2.199-7.001), respectively, that in Uyghur children. The CNV of IRX3_1 was a risk factor for overweight/obesity (P=0.028, OR=2.251, 95%CI: 1.418-5.651).</p><p><b>CONCLUSIONS</b>The CNV of IRX3_1 is associated with overweight/obesity in Han, Uyghur, and Kazak children, and the association between the CNV of IRX3_1 and overweight/obesity in Kazak children should be taken seriously.</p>


Subject(s)
Child , Child, Preschool , China , Ethnology , DNA Copy Number Variations , Female , Homeodomain Proteins , Genetics , Humans , Logistic Models , Male , Obesity , Genetics , Overweight , Genetics , Risk Factors , Transcription Factors , Genetics
18.
Article in Chinese | WPRIM | ID: wpr-687976

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association of polymorphisms of oncostatin M receptor (OSMR) gene with dilated cardiomyopathy (DCM) in a Han Chinese population.</p><p><b>METHODS</b>For 351 DCM patients and 418 healthy controls, two single nucleotide polymorphisms (SNPs) of the OSMR gene, namely rs2292016 (promoter, -100G/T) and rs2278329 (missense, Asp553Asn), were genotyped with a TaqMan SNP genotyping assay. Two hundred of the patients were also followed up for (49.85 ± 22.52) months.</p><p><b>RESULTS</b>For rs2292016, carriers of GT genotype were more likely to develop DCM compared to those with GG and TT genotypes (OR=1.45, 95%CI: 1.09-1.92, P=0.01). For those who did not receive cardiac resynchronization therapy, the GG genotype of rs2292016 was an independent indicator for poor prognosis (OR=1.69, 95%CI: 1.11-2.63, P=0.017). No association was found between genotypes of rs2278329 with the susceptibility or prognosis of DCM.</p><p><b>CONCLUSION</b>Polymorphisms of the OSMR rs2292016 locus are related to the development and outcome of DCM.</p>


Subject(s)
Asians , Genetics , Cardiomyopathy, Dilated , Genetics , China , Ethnology , Genotype , Humans , Oncostatin M Receptor beta Subunit , Genetics , Polymorphism, Single Nucleotide
19.
Article in Chinese | WPRIM | ID: wpr-687975

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association of polymorphisms of N-acyl-phosphatidylethanolamine-phospholipase D (DAPE-PLD) and fatty acid amide hydrolase (FAAH) genes, as well as their interaction, with schizophrenia.</p><p><b>METHODS</b>Polymorphisms of NAPE-PLD rs12540583 and FAAH rs324420, rs2295633, and rs6429600 were determined with PCR - restriction fragment length polymorphism assay and Sanger sequencing. The genotypes of 345 subjects of Han Chinese origin diagnosed with schizophrenia and a 403 controls were compared. The results were analyzed with SPSS 17.0, and the interaction of the two genes was analyzed using a multifactor dimensionality reduction (MDR) method.</p><p><b>RESULTS</b>The frequency of NAPE-PLD rs12540583 polymorphism was significantly different between the two groups under both dominant and additive models (χ2=17.18 vs. χ2=18.94, P<0.0125). The frequencies of AC genotype and C allele of the patient group at rs12540583 were higher than those of the controls, and the interaction of NAPE-PLD and FAAH was associated with schizophrenia. A four-loci model (rs12540583, rs324420, rs2295633 and rs6429600) can best model the interaction between NAPE-PLD and FAAH.</p><p><b>CONCLUSION</b>The AC genotype and C allele of NAPE-PLD rs12540583 locus are risk factors for schizophrenia, and the interaction between NAPE-PLD rs12540583 and FAAH rs324420, rs2295633 and rs6429600 is associated with schizophrenia.</p>


Subject(s)
Adult , Amidohydrolases , Genetics , Asians , Genetics , China , Ethnology , Female , Genotype , Humans , Male , Middle Aged , Phospholipase D , Genetics , Polymorphism, Genetic , Schizophrenia , Genetics
20.
Article in Chinese | WPRIM | ID: wpr-687974

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association of programmed cell death 1 (PDCD1) gene polymorphisms with the susceptibility and/or progression of colorectal cancer.</p><p><b>METHODS</b>A hospital-based case-control study was carried out, which recruited 426 colorectal cancer patients and 500 healthy individuals. Five single nucleotide polymorphisms, namely rs36084323, rs11568821, rs2227981, rs2227982 and rs10204525, were selected for the study and genotyped with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.</p><p><b>RESULTS</b>The G allele of rs36084323 under a dominant model was associated with increased risk of advanced TNM staging of colorectal cancer progression (OR=1.59, 95%CI=1.02-2.48). Haplotypes G-G-C-T-A and A-G-C-C-G of the rs36084323, rs11568821, rs2227981, rs2227982, and rs10204525 were negatively associated with the occurrence of colorectal cancer.</p><p><b>CONCLUSION</b>The G allele of rs36084323 is associated with increased risk of advanced TNM staging of colorectal cancer. Conversely, the incidence of colorectal cancer is negatively associated with the haplotypes G-G-C-T-A and A-G-C-C-G of rs36084323, rs11568821, rs2227981, rs2227982, and rs10204525.</p>


Subject(s)
Asians , Genetics , Case-Control Studies , China , Ethnology , Colorectal Neoplasms , Genetics , Pathology , Genetic Predisposition to Disease , Haplotypes , Humans , Neoplasm Staging , Polymorphism, Single Nucleotide , Programmed Cell Death 1 Receptor , Genetics
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