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The effects of body size and training environment on the physical performance of adolescent basketball players: the INEX study. 体格和训练环境对青少年篮球运动员体能表现的影响:INEX研究。
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2169759
Eduardo Guimarães, Adam D G Baxter-Jones, A Mark Williams, Fernando Tavares, Manuel A Janeira, José Maia

Background: Although adolescent basketballers differ in body size, shape, and composition, less is known about how these factors interact during physical development.

Aim: We used ontogenetic allometry to identify the optimal body size and shape characteristics associated with physical performance in adolescent basketball players, and investigated the effects of training experience, training volume, maturity status, and club characteristics on physical performance development.

Subjects and methods: Two hundred and sixty-four male basketballers, from five age-cohorts (11-15 years of age), were followed consecutively over three years. Three physical performance components, anthropometrics, training information, and biological maturation were assessed bi-annually. Longitudinal multiplicative allometric models were developed.

Results: Players with a physique that had a dominant ectomorphic component performed better in all physical performance components. When adjusting for confounders other than size, the development of running speed was independent of body size. Players advanced in maturation were physically fitter. Training data had no significant effect on developmental trajectories of running speed or lower body explosive strength. Club characteristics had no significant association with any physical performance trajectories.

Conclusion: Leaner players have advantages in physical performance and individual characteristics play an important role, over and beyond club structure, in developing physical performance.

背景:虽然青少年篮球运动员在身体大小、形状和组成上存在差异,但人们对这些因素在身体发育过程中如何相互作用知之甚少。目的:采用个体异速生长法研究青少年篮球运动员的最佳体型和体型特征,并探讨训练经验、训练量、成熟状态和俱乐部特征对体能发展的影响。研究对象和方法:对5个年龄组(11-15岁)的264名男子篮球运动员进行了为期3年的连续随访。三个物理性能组成部分,人体测量学,训练信息和生物成熟度每两年评估一次。建立了纵向乘法异速生长模型。结果:体质中生态形态成分占主导地位的运动员在所有身体表现成分中表现更好。在调整体型以外的混杂因素时,跑步速度的发展与体型无关。成熟的球员在身体上更健康。训练数据对跑步速度和下肢爆发力的发展轨迹没有显著影响。球杆特征与任何身体表现轨迹没有显著关联。结论:瘦球员在体能表现上具有优势,个体特征在体能表现的发展中起着超越俱乐部结构的重要作用。
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引用次数: 1
Deep phenotyping of pubertal development in Norwegian children: the Bergen Growth Study 2. 挪威儿童青春期发育的深层表型:卑尔根生长研究2。
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2174272
Petur B Juliusson, Ingvild S Bruserud, Ninnie Helen Bakken Oehme, Andre Madsen, Ingvild H Forthun, Melissa Balthasar, Karen Rosendahl, Kristin Viste, Astanand Jugessur, Lawrence M Schell, Robert Bjerknes, Mathieu Roelants

Background: The Bergen Growth Study 2 (BGS2) aims to characterise somatic and endocrine changes in healthy Norwegian children using a novel methodology.

Subjects and methods: A cross-sectional sample of 1285 children aged 6-16 years was examined in 2016 using novel objective ultrasound assessments of breast developmental stages and testicular volume in addition to the traditional Tanner pubertal stages. Blood samples allowed for measurements of pubertal hormones, endocrine disruptive chemicals, and genetic analyses.

Results: Ultrasound staging of breast development in girls showed a high degree of agreement within and between observers, and ultrasound measurement of testicular volume in boys also showed small intra- and interobserver differences. The median age was 10.4 years for Tanner B2 (pubertal onset) and 12.7 years for menarche. Norwegian boys reached a pubertal testicular volume at a mean age of 11.7 years. Continuous reference curves for testicular volume and sex hormones were constructed using the LMS method.

Conclusions: Ultrasound-based assessments of puberty provided novel references for breast developmental stages and enabled the measurement of testicular volume on a continuous scale. Endocrine z-scores allowed for an intuitive interpretation of changing hormonal levels during puberty on a quantitative scale, which, in turn, provides opportunities for further analysis of pubertal development using machine-learning approaches.

背景:卑尔根生长研究2 (BGS2)旨在用一种新颖的方法描述健康挪威儿童的躯体和内分泌变化。对象与方法:2016年对1285名6-16岁儿童的横断面样本进行了检查,除了传统的Tanner青春期阶段外,还使用了新的客观超声评估乳房发育阶段和睾丸体积。血液样本可以用来测量青春期激素、内分泌干扰化学物质和基因分析。结果:女孩乳房发育的超声分期在观察者内部和观察者之间显示出高度的一致性,男孩睾丸体积的超声测量也显示出观察者内部和观察者之间的小差异。Tanner B2(青春期发病)的中位年龄为10.4岁,初潮的中位年龄为12.7岁。挪威男孩达到青春期睾丸体积的平均年龄为11.7岁。用LMS法构建睾丸体积和性激素的连续参考曲线。结论:基于超声的青春期评估为乳腺发育阶段提供了新的参考,并使睾丸体积的连续测量成为可能。内分泌z分数允许在定量尺度上直观地解释青春期激素水平的变化,这反过来又为使用机器学习方法进一步分析青春期发育提供了机会。
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引用次数: 3
Prevalence of malnutrition among Samoan children aged 5 to 11 years in 2019-2020. 2019-2020 年萨摩亚 5-11 岁儿童营养不良患病率。
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2197298
Courtney C Choy, Vaimoana Filipo Lupematasila, Maria Siulepa Arorae, Faatali Tafunaina, Folla Unasa, Christina Soti-Ulberg, Muagututia S Reupena, Rachel L Duckham, Kima Faasalele-Savusa, Take Naseri, Nicola L Hawley

Background: Globally, rapid economic development, urbanisation, and nutrition transitions have led to rising levels of malnutrition in all forms.

Aim: The study objective was to document the prevalence of overweight/obesity, underweight, stunting, and anaemia among Samoan children in 2019-2020.

Subjects and methods: Children from the Ola Tuputupua'e "Growing Up" in Samoa study at ages 5-11 years with complete physical assessments were included. Overweight/obesity, underweight, and stunting were classified using World Health Organisation Z-scores for body mass index-for-age (BMIZ> +1), weight-for-age (WAZ< -2SD), and height-for-age (HAZ< -2SD), respectively. Anaemia was defined as haemoglobin concentration <11.5 g/dL. Prevalence was compared by child age, sex, and census region of residence (representing urbanicity and exposure to nutrition transition) using Wilcoxon two-sample, Chi-square, or Fisher's exact tests.

Results: The prevalence of overweight/obesity, underweight, stunting, and anaemia was 36.2%, 0.5%, 1.6%, and 31.6%, respectively. Overweight/obesity in children was positively associated with age and highly prevalent in periurban and urban regions. While children living in the rural region with the lowest exposure to nutrition transition had the highest prevalence of mild-to-moderate stunting, anaemia prevalence was lower compared to those in the urban region. No sex differences in malnutrition were observed.

Conclusion: Moderate-to-high levels of overweight/obesity and anaemia call for comprehensive intervention strategies.

背景:在全球范围内,快速的经济发展、城市化和营养转型导致各种形式的营养不良水平不断上升。目的:研究目标是记录2019-2020年萨摩亚儿童超重/肥胖、体重不足、发育迟缓和贫血的发生率:研究对象包括来自Ola Tuputupua'e "萨摩亚成长 "研究的5-11岁儿童,这些儿童均接受过完整的身体评估。超重/肥胖、体重不足和发育迟缓是根据世界卫生组织规定的年龄体重指数(BMIZ>+1)、年龄体重(WAZResults)的 Z 值进行分类的:超重/肥胖、体重不足、发育迟缓和贫血的发生率分别为 36.2%、0.5%、1.6% 和 31.6%。儿童超重/肥胖与年龄呈正相关,在城郊和城市地区非常普遍。虽然生活在农村地区的儿童受营养转型影响最小,其轻度至中度发育迟缓的发生率最高,但与城市地区的儿童相比,贫血发生率较低。营养不良方面没有性别差异:结论:中度至高度的超重/肥胖和贫血需要全面的干预策略。
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引用次数: 0
Genetic association in CYP3A4 and CYP3A5 genes elevate the risk of prostate cancer. CYP3A4和CYP3A5基因的遗传关联可提高前列腺癌的风险。
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2171122
Sm Faysal Bellah, Md Abdus Salam, S M Saker Billah, Md Rezaul Karim

Background: CYP3A4 and CYP3A5 are biologically potential genes responsible for prostate cancer.

Aim: We aimed to analyse the expression and association of CYP3A4 and CYP3A5 genes in prostate cancer.

Subjects and methods: Web-based bioinformatics tools were used to assess the association of CYP3A4 and CYP3A5 genes with prostate cancer risks. A case-control study of 210 prostate cancer cases and 207 controls was also approved to determine the allelic variants of the CYP3A4 gene- rs2740574 (CYP3A4*1B) and the variant of CYP3A5 gene-rs776746 (CYP3A5*3) using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The risk of prostate cancer was estimated as odds ratio (OR) and 95% confidence interval (CI) using unrestricted logistic regression models.

Results: Our in silico data confirmed that both CYP3A4 and CYP3A5 genes are significantly associated with higher prostate cancer risks. In the case of CYP3A4*1B polymorphism, the heterozygote (*1 A/*1B), mutant (*1B/*1B), and combined heterozygote plus mutant (*1A/*1B+*1B/*1B) genotypes showed 3.52-fold, 3.90-fold, and 3.67-fold increased risk of prostate cancer, respectively. In the case of CYP3A5*3 polymorphism, the heterozygote (*1/*3), mutant (*3/*3), and combined (*1/*3+*3/*3) genotypes were found to be significantly associated with 5.11-, 5.49-, and 5.28-fold greater risk of prostate cancer, respectively.

Conclusion: Our results indicate that CYP3A4*1B and CYP3A5*3 are significantly associated with increased prostate cancer risk.KEY MESSAGESBioinformatics tools were used and concluded that the CYP3A4 and CYP3A5 genes were significantly associated with the development and progression of prostate cancer.CYP3A4 and CYP3A5 polymorphisms were significantly associated with an increased risk of prostate cancer.Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (RFLP) was used to estimate polymorphisms of prostate cancer progression in the Bangladeshi population.

背景:CYP3A4和CYP3A5是生物学上潜在的前列腺癌基因。目的:分析CYP3A4和CYP3A5基因在前列腺癌中的表达及其相关性。研究对象和方法:使用基于网络的生物信息学工具评估CYP3A4和CYP3A5基因与前列腺癌风险的关系。此外,还批准了一项210例前列腺癌病例和207例对照的病例对照研究,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测CYP3A4基因- rs2740574 (CYP3A4*1B)和CYP3A5基因-rs776746 (CYP3A5*3)的等位基因变异。使用无限制逻辑回归模型,以比值比(OR)和95%置信区间(CI)估计前列腺癌的风险。结果:我们的计算机数据证实,CYP3A4和CYP3A5基因都与前列腺癌高风险显著相关。在CYP3A4*1B多态性的情况下,杂合子(*1A/*1B)、突变型(*1B/*1B)和杂合子加突变型(*1A/*1B+*1B/*1B)基因型的前列腺癌风险分别增加3.52倍、3.90倍和3.67倍。在CYP3A5*3多态性的情况下,杂合子(*1/*3)、突变型(*3/*3)和组合型(*1/*3+*3/*3)基因型分别与前列腺癌的风险增加5.11-、5.49-和5.28倍显著相关。结论:CYP3A4*1B和CYP3A5*3与前列腺癌风险增加有显著相关性。使用生物信息学工具,得出CYP3A4和CYP3A5基因与前列腺癌的发生和进展显著相关的结论。CYP3A4和CYP3A5多态性与前列腺癌风险增加显著相关。聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)用于估计孟加拉国人群中前列腺癌进展的多态性。
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引用次数: 0
Editorial: EAA and ISGA congress Vilnius 2022. 社论:EAA和ISGA大会维尔纽斯2022。
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 Epub Date: 2023-10-09 DOI: 10.1080/03014460.2023.2259241
Noël Cameron
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引用次数: 0
Urbanisation and its associated factors affecting human gut microbiota: where are we heading to? 城市化及其影响人类肠道菌群的相关因素:我们将走向何方?
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2170464
Farhat Abjani, Priya Madhavan, Pei Pei Chong, Karuthan Chinna, Charles Anthony Rhodes, Yvonne Ai Lian Lim

Context: The continuous rise in urbanisation and its associated factors has been reflected in the structure of the human gut ecosystem.

Objective: The main focus of this review is to discuss and summarise the major risk factors associated with urbanisation that affect human gut microbiota thus affecting human health.

Methods: Multiple medical literature databases, namely PubMed, Google, Google Scholar, and Web of Science were used to find relevant materials for urbanisation and its major factors affecting human gut microbiota/microbiome. Both layman and Medical Subject Headings (MeSH) terms were used in the search. Due to the scarcity of the data, no limitation was set on the publication date. Relevant materials in the English language which include case reports, chapters of books, journal articles, online news reports and medical records were included in this review.

Results: Based on the data discussed in the review, it is quite clear that urbanisation and its associated factors have long-standing effects on the human gut microbiota that result in alterations of gut microbial diversity and composition. This is a matter of serious concern as chronic inflammatory diseases are on the rise in urbanised societies.

Conclusion: A better understanding of the factors associated with urbanisation will help us to identify and implement new biological and social approaches to prevent and treat diseases and improve health globally by deepening our understanding of these relationships and increasing studies across urbanisation gradients.HIGHLIGHTSHuman gut microbiota have been linked to almost every important function, including metabolism, intestinal homeostasis, immune system, biosynthesis of vitamins, brain processes, and behaviour.However, dysbiosis i.e., alteration in the composition and diversity of gut microbiota is associated with the pathogenesis of many chronic conditions.In the 21st century, urbanisation represents a major demographic shift in developed and developing countries.During this period of urbanisation, humans have been exposed to many environmental exposures, all of which have led to the dysbiosis of human gut microbiota.The main focus of the review is to discuss and summarise the major risk factors associated with urbanisation and how it affects the diversity and composition of gut microbiota which ultimately affects human health.

背景:城市化及其相关因素的持续上升已经反映在人类肠道生态系统的结构中。目的:本综述的主要重点是讨论和总结与城市化相关的影响人类肠道微生物群从而影响人类健康的主要危险因素。方法:利用PubMed、Google、Google Scholar和Web of Science等多个医学文献数据库,查找城市化及其影响人类肠道微生物群的主要因素的相关资料。在搜索中使用了外行和医学主题标题(MeSH)术语。由于资料的稀缺性,未对出版日期进行限制。相关的英语材料包括病例报告、书籍章节、期刊文章、在线新闻报道和医疗记录。结果:基于综述中讨论的数据,很明显,城市化及其相关因素对人类肠道微生物群具有长期影响,导致肠道微生物多样性和组成的改变。这是一个令人严重关切的问题,因为慢性炎症性疾病在城市化社会中呈上升趋势。结论:更好地了解与城市化相关的因素将有助于我们通过加深对这些关系的理解和增加对城市化梯度的研究,确定和实施新的生物和社会方法,以预防和治疗疾病并改善全球健康。人类肠道微生物群与几乎所有重要的功能都有联系,包括代谢、肠道内稳态、免疫系统、维生素的生物合成、大脑过程和行为。然而,生态失调,即肠道微生物群组成和多样性的改变与许多慢性疾病的发病机制有关。在21世纪,城市化是发达国家和发展中国家人口结构的一个重大转变。在这一城市化时期,人类暴露于许多环境中,所有这些都导致了人类肠道微生物群的生态失调。本综述的主要重点是讨论和总结与城市化相关的主要风险因素,以及城市化如何影响最终影响人类健康的肠道微生物群的多样性和组成。
{"title":"Urbanisation and its associated factors affecting human gut microbiota: where are we heading to?","authors":"Farhat Abjani,&nbsp;Priya Madhavan,&nbsp;Pei Pei Chong,&nbsp;Karuthan Chinna,&nbsp;Charles Anthony Rhodes,&nbsp;Yvonne Ai Lian Lim","doi":"10.1080/03014460.2023.2170464","DOIUrl":"https://doi.org/10.1080/03014460.2023.2170464","url":null,"abstract":"<p><strong>Context: </strong>The continuous rise in urbanisation and its associated factors has been reflected in the structure of the human gut ecosystem.</p><p><strong>Objective: </strong>The main focus of this review is to discuss and summarise the major risk factors associated with urbanisation that affect human gut microbiota thus affecting human health.</p><p><strong>Methods: </strong>Multiple medical literature databases, namely PubMed, Google, Google Scholar, and Web of Science were used to find relevant materials for urbanisation and its major factors affecting human gut microbiota/microbiome. Both layman and Medical Subject Headings (MeSH) terms were used in the search. Due to the scarcity of the data, no limitation was set on the publication date. Relevant materials in the English language which include case reports, chapters of books, journal articles, online news reports and medical records were included in this review.</p><p><strong>Results: </strong>Based on the data discussed in the review, it is quite clear that urbanisation and its associated factors have long-standing effects on the human gut microbiota that result in alterations of gut microbial diversity and composition. This is a matter of serious concern as chronic inflammatory diseases are on the rise in urbanised societies.</p><p><strong>Conclusion: </strong>A better understanding of the factors associated with urbanisation will help us to identify and implement new biological and social approaches to prevent and treat diseases and improve health globally by deepening our understanding of these relationships and increasing studies across urbanisation gradients.HIGHLIGHTSHuman gut microbiota have been linked to almost every important function, including metabolism, intestinal homeostasis, immune system, biosynthesis of vitamins, brain processes, and behaviour.However, dysbiosis i.e., alteration in the composition and diversity of gut microbiota is associated with the pathogenesis of many chronic conditions.In the 21st century, urbanisation represents a major demographic shift in developed and developing countries.During this period of urbanisation, humans have been exposed to many environmental exposures, all of which have led to the dysbiosis of human gut microbiota.The main focus of the review is to discuss and summarise the major risk factors associated with urbanisation and how it affects the diversity and composition of gut microbiota which ultimately affects human health.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9209130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Population data and phylogenetic analysis of 37 Y-STR loci in the Hui population from Yunnan Province, Southwest China. 云南回族37个Y-STR基因座的种群资料及系统发育分析
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2188258
Xiufeng Zhang, Kunya Li, Yifan Duan

Background: Previous studies of the genetic polymorphism of the Y-chromosomal short tandem repeat (Y-STR) of Huis were focussed on the northwest of China. However, the population genetic characteristics of Chinese Hui residing in Yunnan province, Southwest China, remain unclear.

Aim: To provide genetic data for 37 Y-STRs in the Chinese Hui population of Yunnan province, as well as to investigate population genetic relationships between the Chinese Hui and another 26 populations from China and neighbouring countries.

Subjects and methods: In total, 326 unrelated healthy male individuals were genotyped using the GoldeneyeTM Y Plus PCR Amplification Kit. Genetic relationships between different populations were analysed using YHRD's AMOVA tools.

Results: A total of 279 haplotypes were detected, out of which 244 were unique. The overall haplotype diversity (HD) and discrimination capacity (DC) were 0.9989 and 0.8611, respectively. The gene diversity (GD) ranged from 0.0544 (DYS645) to 0.9656 (DYS385).

Conclusions: The population comparison indicated that Muslim populations (Hui, Salar and Uighur) showed significantly more genetic affinity than other populations. Our results could be applied in forensic practice and population genetic studies.

背景:以往对回族人y染色体短串联重复序列(Y-STR)遗传多态性的研究主要集中在中国西北地区。然而,居住在中国西南部云南省的中国回族群体遗传特征尚不清楚。目的:提供云南省中国回族37个y - str的遗传资料,探讨中国回族与中国及周边地区26个人群的群体遗传关系。对象和方法:使用GoldeneyeTM Y + PCR扩增试剂盒对326名无亲缘关系的健康男性进行基因分型。利用YHRD的AMOVA工具分析了不同群体间的遗传关系。结果:共检测到279个单倍型,其中244个是唯一的。总单倍型多样性(HD)和鉴别能力(DC)分别为0.9989和0.8611。基因多样性(GD)范围为0.0544 (DYS645) ~ 0.9656 (DYS385)。结论:穆斯林人群(回族、撒拉族和维吾尔族)的遗传亲和力明显高于其他人群。我们的研究结果可以应用于法医实践和群体遗传学研究。
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引用次数: 0
Genetic analysis of 23 Y-STR loci in the Va population from Yunnan Province, Southwest China. 云南Va种群23个Y-STR基因座的遗传分析
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2197654
Jing Yuan, Lei Huang, Yuan Yin, Xiufeng Zhang

Background: Y-chromosomal short tandem repeat (Y-STR) polymorphisms are widely used in forensic DNA analysis. However, there is a lack of information about the Chinese Va population in the Y-STR Haplotype Reference Database.

Aim: To establish the Y-chromosome Haplotype Reference Database of the Yunnan Va population and investigate the population genetic relationships with other geographically adjacent groups.

Subjects and methods: In total, 23 Y-STR loci were genotyped with the PowerPlex Y23 Kit in 368 unrelated healthy Va males from Yunnan Province, Southwest China. Genetic polymorphism was analysed using the YHRD's AMOVA tools and the MEGA 6.0 software.

Results: The gene diversity (GD) of the 23 Y-STR loci ranged from 0.3092 (DYS19) to 0.7868 (DYS385a/b). According to haplotype analysis, 204 different haplotypes were obtained, out of which 144 were unique. The haplotype diversity (HD) and discrimination capacity (DC) were 0.9852 and 0.5543, respectively. By comparing the Yunnan Va group with the other 22 referential groups, the results revealed that Yunnan Va was isolated from other groups.

Conclusions: The 23 Y-STR loci were highly polymorphic and informative in the Yunnan Va population, and the results enriched the basic genetic information for forensic investigation and population genetic studies.

背景:y染色体短串联重复序列(Y-STR)多态性被广泛应用于法医DNA分析。然而,在Y-STR单倍型参考数据库中缺乏中国Va人群的相关信息。目的:建立云南猿猴种群的y染色体单倍型参考数据库,探讨其与其他地理相邻类群的亲缘关系。对象和方法:使用PowerPlex Y23试剂盒对368名云南省无亲缘关系的Va健康男性进行23个Y-STR基因座分型。利用YHRD的AMOVA工具和MEGA 6.0软件分析遗传多态性。结果:23个Y-STR基因座的基因多样性(GD)范围为0.3092 (DYS19) ~ 0.7868 (DYS385a/b)。单倍型分析得到204个不同的单倍型,其中144个是独特的。单倍型多样性(HD)和鉴别能力(DC)分别为0.9852和0.5543。通过与其他22个参考类群的比较,结果表明云南Va是从其他类群中分离出来的。结论:23个Y-STR基因座具有较高的多态性和信息性,为法医调查和群体遗传学研究提供了丰富的基础遗传信息。
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引用次数: 0
The potential implication of MDR1 and NAC1 genetic polymorphisms on resistance to antiepileptic drugs among a Jordanian epileptic population: a cross-sectional study. MDR1和NAC1基因多态性对约旦癫痫人群抗癫痫药物耐药性的潜在影响:一项横断面研究。
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2173291
Rami Abduljabbar, Duaa Eid Tamimi, Al-Motassem Yousef

Background: Resistance to antiepileptic drugs (AEDs) remains one of the main challenges to neurologists. Polymorphisms of drug efflux transporters such as multidrug resistance (MDR1) gene and target sites such as the nucleus accumbens-associated 1 (NAC1) gene have been suggested to influence the responsiveness to treatment.

Aim: Evaluation of the association of MDR1 and NAC1 polymorphisms with AEDs resistance among Jordanian epileptic patients.

Subjects and methods: 86 Jordanian epileptics were included in the study. DNA was extracted and genotyping was conducted by polymerase chain reaction followed by sequencing. Nine single nucleotide polymorphisms (SNPs) on the MDR1 gene and six SNPs on the NAC1 gene were investigated.

Results: MDR1 and NAC1 polymorphisms don't seem to influence the resistance to AEDs at the genotype or allele level. However, a strong association was found between MDR1 rs2032588 (OR = 5; 95%CI = [1.3-18.8], p = 0.01) and AEDs resistance among males at the allele level. Also, data revealed an association between MDR1 rs1128503 and AEDs resistance among females at the allele level.

Conclusion: The data suggest that MDR1 and NAC1 polymorphisms do not influence the AEDs resistance among Jordanian epileptics. However, there is a gender-dependent association between MDR1 polymorphisms and resistance to AEDs at two SNPs (rs2032588 and rs1128503).

背景:抗癫痫药物(AEDs)耐药性仍然是神经科医生面临的主要挑战之一。药物外排转运体如多药耐药基因(MDR1)和靶位点如伏隔核相关基因(NAC1)的多态性被认为会影响对治疗的反应性。目的:探讨MDR1和NAC1基因多态性与约旦癫痫患者抗癫痫药耐药性的关系。对象和方法:86例约旦癫痫患者纳入研究。提取DNA,用聚合酶链反应进行基因分型,测序。研究了MDR1基因上的9个单核苷酸多态性和NAC1基因上的6个单核苷酸多态性。结果:MDR1和NAC1多态性在基因型和等位基因水平上对AEDs的抗性似乎没有影响。然而,MDR1 rs2032588 (OR = 5;95%CI = [1.3 ~ 18.8], p = 0.01)和雄性抗AEDs等位基因水平的差异。此外,数据显示MDR1 rs1128503与雌性aed抗性在等位基因水平上存在关联。结论:MDR1和NAC1基因多态性不影响约旦癫痫患者抗癫痫药耐药性。然而,在两个snp位点(rs2032588和rs1128503)上,MDR1多态性与抗AEDs之间存在性别依赖的关联。
{"title":"The potential implication of <i>MDR1</i> and <i>NAC1</i> genetic polymorphisms on resistance to antiepileptic drugs among a Jordanian epileptic population: a cross-sectional study.","authors":"Rami Abduljabbar,&nbsp;Duaa Eid Tamimi,&nbsp;Al-Motassem Yousef","doi":"10.1080/03014460.2023.2173291","DOIUrl":"https://doi.org/10.1080/03014460.2023.2173291","url":null,"abstract":"<p><strong>Background: </strong>Resistance to antiepileptic drugs (AEDs) remains one of the main challenges to neurologists. Polymorphisms of drug efflux transporters such as multidrug resistance (<i>MDR1</i>) gene and target sites such as the nucleus accumbens-associated 1 (<i>NAC1)</i> gene have been suggested to influence the responsiveness to treatment.</p><p><strong>Aim: </strong>Evaluation of the association of <i>MDR1</i> and <i>NAC1</i> polymorphisms with AEDs resistance among Jordanian epileptic patients.</p><p><strong>Subjects and methods: </strong>86 Jordanian epileptics were included in the study. DNA was extracted and genotyping was conducted by polymerase chain reaction followed by sequencing. Nine single nucleotide polymorphisms (SNPs) on the <i>MDR1</i> gene and six SNPs on the <i>NAC1</i> gene were investigated.</p><p><strong>Results: </strong><i>MDR1</i> and <i>NAC1</i> polymorphisms don't seem to influence the resistance to AEDs at the genotype or allele level. However, a strong association was found between <i>MDR1</i> rs2032588 (OR = 5; 95%CI = [1.3-18.8], <i>p</i> = 0.01) and AEDs resistance among males at the allele level. Also, data revealed an association between <i>MDR1</i> rs1128503 and AEDs resistance among females at the allele level.</p><p><strong>Conclusion: </strong>The data suggest that <i>MDR1</i> and <i>NAC1</i> polymorphisms do not influence the AEDs resistance among Jordanian epileptics. However, there is a gender-dependent association between <i>MDR1</i> polymorphisms and resistance to AEDs at two SNPs (rs2032588 and rs1128503).</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10847984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Can we reduce injury risk during the adolescent growth spurt? An iterative sequence of prevention in male academy footballers. 我们能降低青少年成长期受伤的风险吗?男大学生足球运动员的一系列预防措施。
IF 1.7 4区 医学 Q3 Medicine Pub Date : 2023-02-01 Epub Date: 2023-10-12 DOI: 10.1080/03014460.2023.2261854
David Johnson, Sean Williams, Ben Bradley, Sean P Cumming

Background: The adolescent growth spurt is associated with an increased risk of injury in young athletes.Aim: This study aimed to use an interdisciplinary collaboration between technical coaches, sports scientists, and medical staff to mitigate this risk.Subjects and methods: 77 male academy footballers were followed across two seasons. At-risk players were identified using somatic maturity status and growth rate in stature and the lower limbs, using thresholds of 88% to 92.8% of predicted adult stature, ≥7.2 cm/year, and ≥3.6 cm/year, respectively. During the 2019-20 season, players with symptoms of a growth-related injury or two of three risk factors were included in an intervention strategy that included modified training load, football-specific skills, balance, coordination and landing drills, and an individualised strength program.Results: For players with the three risk factors, there was a significant reduction in the incidence (rate ratio [RR] = 0.14 (5.2 per 1000h → 0.8 per 1000h, p = 0.05) and burden (RR = 0.08 (216 per 1000h → 17 per 1000h, p = 0.02) between the seasons. For players with ≤2 risk factors, there were no significant differences in injury risk between the baseline and intervention seasons.Conclusion: Overall, it may be possible to mitigate injury incidence and burden during the adolescent growth spurt in high-risk athletes.

背景:青少年的快速成长与年轻运动员受伤风险的增加有关。目的:本研究旨在利用技术教练、体育科学家和医务人员之间的跨学科合作来减轻这种风险。研究对象和方法:对77名男大学生足球运动员进行了两个赛季的跟踪调查。根据身体成熟状态和身高和下肢的生长率,使用预测成年身高的88%至92.8%的阈值,≥7.2,确定高危球员 cm/年,且≥3.6 厘米/年。在2019-20赛季,有生长相关损伤症状或三种风险因素中的两种的球员被纳入干预策略,包括调整训练负荷、足球专项技能、平衡、协调和落地训练,以及个性化的力量计划。结果:对于有这三个危险因素的球员,发病率(比率[RR])显著降低 = 0.14(每1000小时5.2→ 0.8每1000小时,p = 0.05)和负荷(RR=0.08(216/1000h→ 每1000小时17次,p = 0.02)。对于风险因素≤2的球员,在基线赛季和干预赛季之间,受伤风险没有显著差异。结论:总的来说,有可能减轻高危运动员在青少年生长发育期的损伤发生率和负担。
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Annals of Human Biology
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