Gender and the Genome最新文献

英文中文

Gender and the Genome

Pub Date : 2020-02-25 DOI: 10.1177/2470289720907105

Anne Wishna, A. Hurtig, K. Templeton

Changes in vision can have significant impact on health and quality of life. Differences between women and men have been identified in the incidence of several eye conditions. Some of these differences are a result of the greater longevity of women. However, the eye, like other organs, is susceptible to the impacts of inflammation and sex steroids. Conditions, such as thyroid eye disease, optic neuritis, and dry eye disease are related to autoimmune or inflammatory conditions and are, thus, more common among women. Idiopathic intracranial hypertension occurs disproportionately in women of childbearing age; the etiology of this condition appears to be related to both inflammatory and sex hormone fluctuations.

视力的变化会对健康和生活质量产生重大影响。女性和男性在几种眼部疾病的发病率方面存在差异。其中一些差异是女性寿命更长的结果。然而，眼睛和其他器官一样，容易受到炎症和性类固醇的影响。甲状腺眼病、视神经炎和干眼症等疾病与自身免疫性或炎症性疾病有关，因此在女性中更常见。特发性颅内高压在育龄妇女中发生率过高；这种情况的病因似乎与炎症和性激素波动有关。

引用次数: 0

Roundtable Discussion III: The Development and Uses of Artificial Intelligence in Medicine: A Work in Progress 圆桌讨论III：人工智能在医学中的发展和应用：正在进行的工作

Gender and the Genome

Pub Date : 2020-02-18 DOI: 10.1177/2470289719898701

M. Legato, Francoise Simon, J. Young, Tatsuya Nomura, I. Sánchez-Serrano

Humans have devised machines to replace computation by individuals since ancient times: The abacus predated the written Hindu–Arabic numeral system by centuries. We owe a quantum leap in the development of machines to help problem solve to the British mathematician Charles Babbage who built what he called the Difference Engine in the mid-19th century. But the Turing formula created in 1936 is the foundation for the modern computer; it produced printed symbols on paper tape that listed a series of logical instructions. Three decades later, Olivetti manufactured the first mass-marketed desktop computer (1964), and by 1981, IBM had developed the first personal computer. Computing machines have become more and more powerful, culminating recently in Google’s claim that it had achieved quantum supremacy in developing a system that can complete a task in 200 seconds that it would take the most powerful type of classical computer available 10 000 years to achieve. In short, we are in a period of human history in which we are creating more and more powerful and complex machines potentially capable of duplicating human intelligence and indeed surpassing/expanding its power. We are solidly in the age of artificial intelligence (AI). Increasing interest in the development of AI and its application to human health at all levels makes a roundtable discussion by experts a valuable project for publication in our journal, Gender and the Genome, the official journal of the Foundation for Gender-Specific Medicine and the International Society of Gender Medicine.

自古以来，人类就发明了机器来取代个人的计算:算盘比书面的印度-阿拉伯数字系统早了几个世纪。英国数学家查尔斯·巴贝奇(Charles Babbage)在19世纪中期制造了他所谓的“差分机”(Difference Engine)，这是我们在帮助解决问题的机器发展上的一次巨大飞跃。但1936年创建的图灵公式是现代计算机的基础;它在纸带上印制符号，列出一系列逻辑指令。三十年后，Olivetti在1964年制造出了第一台大规模销售的台式电脑，到1981年，IBM开发出了第一台个人电脑。计算机器变得越来越强大，最近b谷歌声称它已经实现了量子霸权，开发了一个系统，可以在200秒内完成一项任务，而最强大的经典计算机需要1万年才能完成。简而言之，我们正处于人类历史的一个时期，在这个时期，我们正在创造越来越强大和复杂的机器，这些机器有可能复制人类的智能，并且确实超越/扩展了人类的智能。我们确实处于人工智能(AI)时代。人们对人工智能的发展及其在各级对人类健康的应用越来越感兴趣，这使得专家圆桌讨论成为一个有价值的项目，可在我们的《性别与基因组》杂志上发表。《性别与基因组》是专门针对性别的医学基金会和国际性别医学学会的官方杂志。

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引用次数: 2

Exploring Fetal Sex as a Risk Factor for Sleep Disordered Breathing and Its Complications in Pregnancy. 探讨胎儿性别作为妊娠期睡眠呼吸障碍及其并发症的危险因素。

Gender and the Genome

Pub Date : 2020-01-01 Epub Date: 2020-08-21 DOI: 10.1177/2470289720948076

Margaret H Bublitz, Myriam Salameh, Laura Sanapo, Ghada Bourjeily

Sleep disordered breathing (SDB) is a common, yet under-recognized and undertreated condition in pregnancy. Sleep disordered breathing is associated with pregnancy complications including preeclampsia, gestational diabetes, preterm birth, as well as severe maternal morbidity and mortality. The identification of risk factors for SDB in pregnancy may improve screening, diagnosis, and treatment of SDB prior to the onset of pregnancy complications. The goal of this study was to determine whether fetal sex increases risk of SDB in pregnancy. A cohort of singleton (N = 991) pregnant women were recruited within 24 to 48 hours of delivery and answered questions regarding SDB symptoms by questionnaire. Women who reported frequent loud snoring at least 3 times a week were considered to have SDB. Hospital records were reviewed to extract information on fetal sex and pregnancy complications including preeclampsia, pregnancy-induced hypertension, gestational diabetes, preterm delivery, and low birth weight. Women carrying male fetuses were significantly more likely to have SDB (β = .37, P = .01, OR: 1.45 [95% CI: 1.09-1.94]). Fetal sex was associated with increased risk of hypertensive disorders of pregnancy (defined as preeclampsia and/or pregnancy-induced hypertension) among women with SDB in pregnancy (β = .41, P = .02, OR: 1.51[95%CI:1.08-2.11]).Fetal sex did not increase risk of preterm birth, low birth weight, or gestational diabetes among women with SDB in pregnancy. Women carrying male fetuses were approximately 1.5 times more likely to report SDB in pregnancy compared to women carrying female fetuses, and women with pregnancy-onset SDB carrying male fetuses were 1.5 times more likely to have hypertensive disorders of pregnancy compared to women with SDB carrying female fetuses. Confirmation of fetal sex as a risk factor may, with other risk factors, play a role in identifying women at highest risk of SDB complications in pregnancy.

睡眠呼吸障碍(SDB)是一种常见的妊娠期疾病，但未被充分认识和治疗。睡眠呼吸障碍与妊娠并发症有关，包括先兆子痫、妊娠糖尿病、早产以及严重的孕产妇发病率和死亡率。妊娠期SDB危险因素的识别可以改善妊娠并发症发生前SDB的筛查、诊断和治疗。本研究的目的是确定胎儿性别是否会增加妊娠期SDB的风险。选取分娩24 ~ 48小时内的单胎孕妇(N = 991)为研究对象，采用问卷方式回答有关SDB症状的问题。每周至少三次频繁大声打鼾的女性被认为患有SDB。我们回顾了医院记录，以提取胎儿性别和妊娠并发症的信息，包括先兆子痫、妊娠高血压、妊娠糖尿病、早产和低出生体重。怀男性胎儿的妇女患SDB的可能性显著增加(β = 0.37, P = 0.01, OR: 1.45 [95% CI: 1.09-1.94])。胎儿性别与妊娠期患有SDB的妇女发生妊娠高血压疾病(定义为子痫前期和/或妊娠高血压)的风险增加相关(β = 0.41, P = 0.02, or: 1.51[95%CI:1.08-2.11])。胎儿性别不会增加妊娠期SDB患者的早产、低出生体重或妊娠糖尿病的风险。怀孕期间携带男性胎儿的妇女报告SDB的可能性是携带女性胎儿的妇女的1.5倍，携带男性胎儿的妊娠期发病SDB的妇女患妊娠期高血压疾病的可能性是携带女性胎儿的妇女的1.5倍。确认胎儿性别是一个危险因素，可能与其他危险因素一起，在确定怀孕期间SDB并发症风险最高的妇女中发挥作用。

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引用次数: 0

9th Congress of the International Society of Gender Medicine 国际性别医学学会第九届大会

Gender and the Genome

Pub Date : 2019-10-21 DOI: 10.1177/2470289719881516

引用次数: 1

Male Infertility Problem: A Contemporary Review on Present Status and Future Perspective 男性不育问题:现状回顾与展望

Gender and the Genome

Pub Date : 2019-08-08 DOI: 10.1177/2470289719868240

D. Dissanayake, W. Keerthirathna, L. Peiris

Semen quality plays a pivotal role in maintaining healthy fertilizing ability of spermatozoa. Male infertility is a rising global problem with an increasing declining in male semen quality among men living in Africa, Europe, North American, and Asia. Though the sperm acquire proactive mechanisms during spermatogenesis and their epididymal maturation, they still remain viable for toxic insult. Declining semen quality is a major contributor to infertility. Studies have postulated that different factors, such as exposure to pesticides, industrial chemicals, heavy metals, obesity, alcoholism, tobacco smoking, sedentary lifestyles, poor nutrient intake, oxidative stress, physiological factors, genetic factors can influence male fertility. Routine semen analysis and assays for sperm chromatin integrity are the most widely utilized and best studied adjunctive diagnostics in male infertility. Over the years, scientists have developed different treatment options for male infertility. Male infertility with known etiology can be treated successfully, but other causes like genetic factors require pragmatic approaches. This article summarizes protective mechanisms of spermatogenesis, causes, diagnosis, and both modern and traditional treatment approaches of male infertility. Further, this article highlights present issues and direction for future exploration of the male infertility problem.

精液质量对维持精子健康受精能力起着至关重要的作用。男性不育是一个日益严重的全球问题，生活在非洲、欧洲、北美和亚洲的男性精液质量日益下降。尽管精子在精子发生和附睾成熟过程中获得了主动机制，但它们仍然可以承受毒性损伤。精液质量下降是导致不孕的主要原因。研究假设，不同的因素，如接触杀虫剂、工业化学品、重金属、肥胖、酗酒、吸烟、久坐不动的生活方式、营养摄入不足、氧化应激、生理因素和遗传因素，都会影响男性的生育能力。精液常规分析和精子染色质完整性检测是男性不育中应用最广泛、研究最好的辅助诊断方法。多年来，科学家们为男性不育开发了不同的治疗方案。已知病因的男性不育可以成功治疗，但遗传因素等其他原因需要务实的方法。本文综述了男性不育的精子发生保护机制、病因、诊断以及现代和传统治疗方法。此外，本文强调了目前存在的问题和今后对男性不育问题的探索方向。

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引用次数: 24

Summary of the Symposium of Sex and Gender in Physiology and Pharmacology Held at the Royal Swedish Academy of Sciences in Stockholm, October 2018 2018年10月在斯德哥尔摩瑞典皇家科学院举行的生理和生理性别与药理学研讨会综述

Gender and the Genome

Pub Date : 2019-06-25 DOI: 10.1177/2470289719838097

K. Schenck-Gustafsson, L. Lind

Summary of the Symposium of Sex and Gender in Physiology and Pharmacology Held at the Royal Swedish Academy of Sciences in Stockholm, October 2018

2018年10月在斯德哥尔摩瑞典皇家科学院举行的生理学和药理学中的性别研讨会综述

引用次数: 1

Personalized Medicine and the Icarus Project: Ethical and Moral Issues in Sending Humans into Space 个性化医疗和伊卡洛斯计划:将人类送入太空的伦理和道德问题

Gender and the Genome

Pub Date : 2019-04-22 DOI: 10.1177/2470289719838401

M. Legato

The irresistible urge of humans to expand their current competence in mastering the environment is nowhere more apparent than the attempt to conquer space and colonize other worlds. The promise of an expanded universe for earth’s life forms is irresistible. It is driven by positive and negative forces: among others, devastating climate change (and irreducible disagreements on the measures needed to reverse it), the threat of nuclear conflicts that will make huge segments of earth uninhabitable, and the possibility of harvesting precious resources on other celestial bodies. The questions that arise involve the selection and preparation of humans for life in other worlds but equally important, a consideration of the practical, moral, and ethical issues that arise in our exploiting novel environments. Our ethical deliberations should not only focus on the consequences of space travel for the astronaut, but just as responsibly on our impact on the geophysical features and life forms we encounter in the new worlds we explore and manipulate. It is worth remarking that the push to explore other worlds (such as the proposal for human colonization of Mars in the next few decades) is regarded by some as yet hopelessly deficient in an adequate understanding of human physiology, and the vulnerability that makes individuals unequal to the harsh challenges of space. Anthropologist Rayna Slobodian mounts a cogent argument for remaining solidly earthbound, at least for the present; she correctly points out that the data on the impact of the unique environments astronauts will encounter although abundant and exponentially expanding, are still inadequate to adequately mitigate the dangers of space travel. She advocates ethical advertising in “selling space” to the public. The way in which the space industry hides (at times without even knowing it) the full extent of the risks for Mars missions with humans involves . . . romanticism, utopian ideals, lack of cognitive awareness, and fear-based selling . . . The rush to settle is dangerous and careless.

人类想要扩大目前控制环境的能力的不可抗拒的冲动，在征服太空和殖民其他世界的企图中表现得最为明显。为地球上的生命形式提供一个扩大的宇宙的前景是不可抗拒的。它是由积极和消极的力量驱动的:其中包括毁灭性的气候变化(以及在扭转气候变化所需措施上无法消除的分歧)，将使地球大片地区无法居住的核冲突的威胁，以及在其他天体上获取宝贵资源的可能性。由此产生的问题包括选择和准备人类在其他世界的生活，但同样重要的是，考虑到在我们开发新环境中出现的实际、道德和伦理问题。我们的伦理讨论不仅应该关注太空旅行对宇航员的影响，还应该负责任地关注我们对我们在探索和操纵的新世界中遇到的地球物理特征和生命形式的影响。值得注意的是，一些人认为，探索其他世界的努力(比如未来几十年人类殖民火星的提议)仍无可救药地缺乏对人类生理学的充分理解，以及使个人无法应对太空严酷挑战的脆弱性。人类学家蕾娜·斯洛博迪安(Rayna Slobodian)提出了一个令人信服的论点，认为至少在目前，人类应该牢牢地留在地球上;她正确地指出，关于宇航员将遇到的独特环境影响的数据虽然丰富且呈指数级增长，但仍不足以充分减轻太空旅行的危险。她主张在向公众“出售空间”的过程中进行道德广告。航天工业隐藏(有时甚至不知道)载人火星任务的全部风险的方式包括……浪漫主义、乌托邦式理想、缺乏认知意识和基于恐惧的销售……急于安定下来既危险又粗心。

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引用次数: 1

Molecular and Genetic Bases of Mammalian Maternal Behavior 哺乳动物母性行为的分子和遗传基础

Gender and the Genome

Pub Date : 2019-02-05 DOI: 10.1177/2470289719827306

A. Fleming, G. Kraemer

New mammalian mothers undergo an increase in their maternal responsiveness with the birth of their infants. Associated with changes in responsiveness are how attracted mothers are to infant cues, mothers’ affective state, and their cognitive and executive function. In comparison to nonmothers, new mothers are more attracted to infant odors and are more easily alerted to their vocalizations; they undergo a reduction in withdrawal behaviors and anxiety, but increased lability. Their maternal sensitivity (human or licking intensity, rat) is associated with higher levels of attention and working memory. Maternal responsiveness and these associated behaviors are associated with large shifts in maternal hormones across parturition. Changes in expression of neuropeptides and neurotransmitters are affected by mothers’ prior experiences, including their very early experiences in their families of origin. The present review describes the regulation of mothering and associated behaviors by the neurotransmitters, oxytocin, dopamine, and serotonin, in a rat model and in humans. Emphasis is then given to studies that focus on the role of genes and what we know about their expression in the functioning of these 3 neurochemical systems in new mothers. Studies of early experience, genetics, and human mothering show gene-by-environment interplays (interactions) for a number of DNA single-nucleotide polymorphism within both the oxytocin and serotonin systems, where associations between mothers’ early experiences and mothering/affect depend on mothers’ genotype. Studies also show associations between different dopamine genes and many aspects of both mothering and maternal affect. Where known, we also discuss evidence that the relation between early experience and mothering is often an indirect one, mediated through an effect of experience on mothers’ affect or executive function. In many cases, mothers’ genetic profile moderates these relations. Finally, preliminary evidence suggests a role of epigenetic mechanisms in these processes.

随着婴儿的出生，新的哺乳动物母亲的母性反应会增加。与反应性变化相关的是母亲对婴儿暗示的吸引力、母亲的情感状态以及她们的认知和执行功能。与非妈妈相比，新妈妈们更容易被婴儿的气味所吸引，也更容易被婴儿的声音所吸引;他们的戒断行为和焦虑会减少，但会增加不稳定。它们的母性敏感性(人类或舔的强度，老鼠)与较高的注意力和工作记忆水平有关。母亲的反应性和这些相关行为与分娩期间母亲激素的巨大变化有关。神经肽和神经递质表达的变化受到母亲先前经历的影响，包括她们在原生家庭中的早期经历。本综述描述了在大鼠模型和人类中，神经递质，催产素，多巴胺和血清素对母性和相关行为的调节。然后重点是研究基因的作用，以及我们对新妈妈这三种神经化学系统功能中基因表达的了解。对早期经历、遗传学和人类母性的研究表明，在催产素和血清素系统中，基因与环境的相互作用(相互作用)导致了许多DNA单核苷酸多态性，其中母亲的早期经历和母性/影响之间的关联取决于母亲的基因型。研究还表明，不同的多巴胺基因与母性和母性影响的许多方面之间存在关联。在已知的情况下，我们还讨论了早期经历与母性之间的关系通常是间接关系的证据，通过经验对母亲的影响或执行功能的影响来调解。在许多情况下，母亲的遗传特征缓和了这些关系。最后，初步证据表明表观遗传机制在这些过程中起作用。

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引用次数: 11

Gender and the Genome

Pub Date : 2019-01-01 DOI: 10.1177/2470289719895283

J. Jesuthasan, Z. Witte, S. Oertelt-Prigione

The number of forcibly displaced people has been steadily increasing over the last decades. Women represent a large proportion of this population. Due to gender roles, duties of care, educational and economic imbalances, their experiences during flight and relocation differ from those of men and children. The currently available information about their specific health-related needs and barriers to access is scarce. We sought to explore the specific needs of the female refugee population employing a user-centered perspective. Rather than focusing on provider-designed interventions, we aimed at defining what female refugees want and need and which priorities they define themselves. We searched PubMed, Medline, EMBASE, Cochrane Library, and Scopus to identify publications that explored the unique experiences of female refugees between January 1, 2008 and June 30, 2018. Publications needed to address the health needs of refugees, asylum seekers, or displaced individuals, include at least 50% women in their study and employ a user-centered perspective. A framework of themes was identified and applied to all publications. We identified 1945 publications of which 13 could be included in the present review. Twelve of these publications employed qualitative and/or innovative methodology. We identified 5 broad categories of health-related needs (immediate health care, communication, cultural/spiritual, social, and economic). The identified publications described the need for complex, coordinated approaches. Concerted action providing information and culturally sensitive care, while supporting language acquisition and economic empowerment is essential to improve the health status of female refugees. Transformative interventions need to address multiple axes of unequal access for female refugees to improve their overall health.

过去几十年来，被迫流离失所的人数一直在稳步增加。妇女在这一人口中占很大比例。由于性别角色、照顾责任、教育和经济不平衡，她们在逃亡和重新安置期间的经历与男子和儿童不同。目前可获得的关于其具体健康需求和获取障碍的信息很少。我们试图从以用户为中心的角度探讨女性难民人口的具体需求。我们的重点不是提供者设计的干预措施，而是确定女性难民想要和需要什么，以及她们为自己确定哪些优先事项。我们检索了PubMed、Medline、EMBASE、Cochrane Library和Scopus，以确定在2008年1月1日至2018年6月30日期间探讨女性难民独特经历的出版物。解决难民、寻求庇护者或流离失所者健康需求所需的出版物在其研究中至少包括50%的妇女，并采用以用户为中心的观点。确定了一个主题框架，并将其应用于所有出版物。我们确定了1945份出版物，其中13份可以纳入本综述。这些出版物中有12种采用了定性和/或创新的方法。我们确定了5大类与健康相关的需求(即时卫生保健、交流、文化/精神、社会和经济)。所确定的出版物说明需要采取复杂、协调的办法。采取协调一致的行动，提供信息和对文化敏感的护理，同时支持语言学习和增强经济能力，对于改善女性难民的健康状况至关重要。变革性干预措施需要解决女性难民机会不平等的多重问题，以改善她们的整体健康状况。

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引用次数: 3

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Gender and the Genome

Pub Date : 2019-01-01 DOI: 10.1177/2470289719847038

引用次数: 0

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