Les différentes anomalies de la reproduction masculine sont-elles en augmentation ? Faits et controverses, possibles facteurs en cause: une analyse actualisée des données de la littérature et des registres

In recent decades, numerous observations in wildlife of various anomalies of the male reproductive functions-some being reminiscent of experimental toxicology data-have raised questions about the possible role of environmental pollutants. A number of studies suggest an increased prevalence of reproductive disorders in adult humans in recent decades in many (but not all) Western countries. The best documented data concern testicular cancer, its increasing rate suggesting that environmental factors and/or changes in lifestyle may come into play. However, considerable regional and ethnic differences exist in absolute incidence rates, suggesting in turn the concomitant role of the genetic background. Finally, several studies suggest that semen quality has declined in many countries. In the early 2000’s, Skakkebæk’s group in Copenhagen postulated a common origin to these different abnormalities — the so-called testicular dysgenesis syndrome (TDS) — all possibly related to abnormal testis development during gestation. Is there a causal link between these different conditions and deleterious environmental and/or lifestyle factors? The answer is far from being unequivocal, and the subject, a potential major public health problem, remains a source of hot debate both within the scientific community and in the media. The present review aims to provide an updated synthesis of these complex issues.     

The promise of cognitive behavior therapy for treatment of severe mental disorders: a review of recent developments

Cognitive behavior therapy (CBT), as exemplified by the model of psychotherapy developed and refined over the past 40 years by A.T. Beck and colleagues, is one of the treatments of first choice for ambulatory depressive and anxiety disorders. Over the past several decades, there have been vigorous efforts to adapt CBT for treatment of more severe mental disorders, including schizophrenia and the more chronic and/or treatment refractory mood disorders. These efforts have primarily studied CBT as an adjunctive therapy, i.e., in combination with pharmacotherapy. Given the several limitations of state‐of‐the‐art pharmacotherapies for these severe mental disorders, demonstration of clinically meaningful additive effects for CBT would have important implications for improving public health. This paper reviews the key developments in this important area of therapeutics, providing a summary of the current state of the art and suggesting directions for future research.     

Should ‘Omics’ education be a part of allied health profession curricula?

Sequencing of human genome followed by monumental progress in omics sciences within last two decades has made personalized nutrition for better health is a reality for near future. The complexity of underlying science in making personalized nutrition recommendation has led to the need for training of health care providers. The International Society of Nutrigenetics/Nutrigenomics (ISNN) has mission to increase the understanding among both professionals and the general public of the role of genetic variation and nutrients in gene expression. To bring this mission to fruition, we need trained healthcare professionals ready to educate public. With this in mind, we have surveyed allied health students for their omics knowledge, desire to learn more and their perception of the need of omics education. The results show a need for training in omics in all allied health disciplines and desire of the students to learn more.     

Anthropological insights into the use of race/ethnicity to explore genetic contributions to disparities in health

Anthropological insights into the use of race/ethnicity to explore genetic contributions to disparities in health were developed using in-depth qualitative interviews with editorial staff from nineteen genetics journals, focusing on the methodological and conceptual mechanisms required to make race/ethnicity a genetic variable. As such, these analyses explore how and why race/ethnicity comes to be used in the context of genetic research, set against the background of continuing critiques from anthropology and related human sciences that focus on the social construction, structural correlates and limited genetic validity of racial/ethnic categories. The analyses demonstrate how these critiques have failed to engage geneticists, and how geneticists use a range of essentially cultural devices to protect and separate their use of race/ethnicity as a genetic construct from its use as a societal and social science resource. Given its multidisciplinary, biosocial nature and the cultural gaze of its ethnographic methodologies, anthropology is well placed to explore the cultural separation of science and society, and of natural and social science disciplines. Anthropological insights into the use of race/ethnicity to explore disparities in health suggest that moving beyond genetic explanations of innate difference might benefit from a more even-handed critique of how both the natural and social sciences tend to essentialize selective elements of race/ethnicity. Drawing on the example of HIV/AIDS, this paper demonstrates how public health has been undermined by the use of race/ethnicity as an analytical variable, both as a cipher for innate genetic differences in susceptibility and response to treatment, and in its use to identify 'core groups' at greater risk of becoming infected and infecting others. Clearly, a tendency for biological reductionism can place many biomedical issues beyond the scope of public health interventions, while socio-cultural essentialization has tended to stigmatize 'unhealthy behaviours' and the communities where these are more prevalent.     

The hypothalamus for whole-body physiology: from metabolism to aging

Obesity and aging are two important epidemic factors for metabolic syndrome and many other health issues, which contribute to devastating diseases such as cardiovascular diseases, stroke and cancers. The brain plays a central role in controlling metabolic physiology in that it integrates information from other metabolic organs, sends regulatory projections and orchestrates the whole-body function. Emerging studies suggest that brain dysfunction in sensing various internal cues or processing external cues may have profound effects on metabolic and other physiological functions. This review highlights brain dysfunction linked to genetic mutations, sex, brain inflammation, microbiota, stress as causes for whole-body pathophysiology, arguing brain dysfunction as a root cause for the epidemic of aging and obesity-related disorders. We also speculate key issues that need to be addressed on how to reveal relevant brain dysfunction that underlines the development of these disorders and diseases in order to develop new treatment strategies against these health problems.     

Genetic support groups in the delivery of comprehensive genetic services.

This research sought information about the services provided by genetic support groups, their members' experiences in obtaining genetic and related services, and members' recommendations for improving services. Results from a survey of 43 directors of genetic support groups showed that these organizations not only provide their members with a wide range of informational and supportive services but also address the need for education of both the public and health professionals about genetic disorders. A second survey of 931 members of genetic support groups found that, although they obtained genetic information from a variety of professional and informal sources, many of them experienced barriers to obtaining sufficient genetic information. Respondents called for professionals to improve their interpersonal skills in working with clients and to assist families in obtaining a wider variety of services. On the basis of these findings, a service model and priorities are proposed to bring together genetic specialists, community professionals, and genetic support groups for the delivery of comprehensive services to individuals and families with genetic disorders.     

Genetics of osteoarticular disorders,Florence, Italy, 22-23 February 2002

Osteoporosis (OP) and osteoarthritis (OA), the two most common age-related chronic disorders of articular joints and skeleton, represent a major public health problem in most developed countries. They are influenced by environmental factors and exhibit a strong genetic component. Large population studies clearly show their inverse relationship; therefore, an accurate analysis of the genetic bases of one of these two diseases may provide data of interest for the other disorder. The discovery of risk and protective genes for OP and OA promises to revolutionize strategies for diagnosing and treating these disorders. The primary goal of this symposium was to bring together scientists and clinicians working on OP and OA in order to identify the most promising and collaborative approaches for the coming decade. This meeting put into focus the importance of an adequate genetic approach to several areas of research: the search for the genetic determinants underlying new susceptibilities, the optimization of previously acquired data; the establishment of correlations between genetic polymorphism and functional variants, and gene-gene and gene-environment interactions (particularly those between genes and nutrients). An adequate genetic approach is also essential with regard to determining more selective criteria for phenotypic definition of familial OP, in order to obtain more homogeneous and statistically powerful family-based studies. The symposium concluded with an interesting overview of the future perspectives offered by DNA microarray technologies for identifying novel candidate genes, for developing proteomics and bioinformatics analyses and for designing low-cost clinical trials.     

Genetics of osteoarticular disorders,Florence, Italy, 22–23 February 2002

Osteoporosis (OP) and osteoarthritis (OA), the two most common age-related chronic disorders of articular joints and skeleton, represent a major public health problem in most developed countries. They are influenced by environmental factors and exhibit a strong genetic component. Large population studies clearly show their inverse relationship; therefore, an accurate analysis of the genetic bases of one of these two diseases may provide data of interest for the other disorder. The discovery of risk and protective genes for OP and OA promises to revolutionize strategies for diagnosing and treating these disorders. The primary goal of this symposium was to bring together scientists and clinicians working on OP and OA in order to identify the most promising and collaborative approaches for the coming decade. This meeting put into focus the importance of an adequate genetic approach to several areas of research: the search for the genetic determinants underlying new susceptibilities, the optimization of previously acquired data; the establishment of correlations between genetic polymorphism and functional variants, and gene–gene and gene–environment interactions (particularly those between genes and nutrients). An adequate genetic approach is also essential with regard to determining more selective criteria for phenotypic definition of familial OP, in order to obtain more homogeneous and statistically powerful family-based studies. The symposium concluded with an interesting overview of the future perspectives offered by DNA microarray technologies for identifying novel candidate genes, for developing proteomics and bioinformatics analyses and for designing low-cost clinical trials.     

Lessons learned in developing community mental health care in North America

This paper summarizes the findings for North America of the WPA Task Force on Steps, Obstacles and Mistakes to Avoid in the Implementation of Community Mental Health Care. Community mental health has evolved over five decades in the United States and Canada. The United States has led the world in innovation and spending, but provide variable quality of care; Canada has steadily developed a more uniform public health system for less cost. Lessons learned from North America include: team-based approaches and other evidence-based practices, when implemented with high fidelity, can improve outcomes in routine mental health care settings; recovery ideology and peer support enhance care, though they have not been studied rigorously; effective community-based care for people with serious mental disorders is expensive.     

Linkage of genetics and ethics: more crossing over is needed

Since the development of recombinant DNA technology in the mid 1970s, there has been increasing interest in the ethical, legal, and social implications of genetics and related fields. The web sites of five different organizations (government, academic, and independent not-for-profit) that deal explicitly with genetics and ethics are reviewed here. Some of the sites cover genetics and other issues in bioethics while others cover human genetics exclusively. The target audiences for the sites include medical and scientific professionals, students, and the general public. Among the issues examined are genetic testing, genetic discrimination in employment and health insurance, genetically modified foods, stem cells and DNA patenting. Resources for those interested in legal issues are particularly well-represented on these sites.     

Genetic markers of osteoarticular disorders: facts and hopes

Osteoarthritis and osteoporosis are the two most common age-related chronic disorders of articular joints and skeleton, representing a major public health problem in most developed countries. Apart from being influenced by environmental factors, both disorders have a strong genetic component, and there is now considerable evidence from large population studies that these two disorders are inversely related. Thus, an accurate analysis of the genetic component of one of these two multifactorial diseases may provide data of interest for the other. However, the existence of confounding factors must always be borne in mind in interpreting the genetic analysis. In addition, each patient must be given an accurate clinical evaluation, including family history, history of drug treatments, lifestyle, and environment, in order to reduce the background bias. Here, we review the impact of recent work in molecular genetics suggesting that powerful molecular biology techniques will soon make possible both a rapid accumulation of data on the genetics of both disorders and the development of novel diagnostic, prognostic, and therapeutic approaches.     

Human genome research and the public interest: progress notes from an American science policy experiment.

This essay reviews the efforts of the U.S. Human Genome Project to anticipate and address the ethical, legal, and social implications of new advances in human genetics. Since 1990, approximately $10 million has been awarded by the National Institutes of Health and the Department of Energy, in support of 65 research, education, and public discussion projects. These projects address four major areas of need: (1) the need for both client-centered assessments of new genetic services and for improved knowledge of the psychosocial and ethnocultural factors that shape clients' clinical genetic experiences; (2) the need for clear professional policies regarding human-subject research, clinical practice standards, and public health goals in human genetics; (3) the need for social policy protection against unfair access to and use of personal genetic information; and (4) the need for improved public and professional understanding and discussion of these issues. The Human Genome Project's goal is to have defined, by 1995, policy options and programs capable of addressing these needs.     

The Organization of schistosomiasis control programmes

A major constraint to the control of communicable diseases in developing countries is the lack of adequate institutionalization of public health activities. The usual political perception is that the public will benefit more from economic and social development than from public health interventions. Planners and politicians generally hold that investment in rural electrification, roads and education will bring more long-term benefit than equivalent investments in public health. Sadly therefore, public health interventions have usually been designed and implemented as short-term, high-return activities in an atmosphere of unrealistic optimism. This criticism can be applied to most tropical diseases, but the potential of new weapons against many of the most widespread parasitic diseases places some urgency on an analysis of the most effective way to implement these interventions. In an attempt to identify and begin to resolve some of these issues, The World Bank, WHO and McConnell Clark Foundation sponsored a workshop on the Organization and Management of Schistosomiasis and other Tropical Disease Control Programmes. The meeting addressed general issues of the organization of public health services, but focused on schistosomiasis where the development of effective, single oral dose chemotherapy (using oxamniquine or praziquantel) is seen as a realistic intervention for large-scale control throughout the 74 endemic countries. In this article, Bernhard Liese reviews the institutional questions, drawing examples from the often cited control programmes in Brazil, Ghana, Egypt, Morocco, Sudan and the Philippines.     

Fetal alcohol spectrum disorders: an overview with emphasis on changes in brain and behavior

Fetal alcohol spectrum disorders constitute a major public health problem. This article presents an overview of important issues that surround these disorders and emphasizes the structural and neurobehavioral consequences associated with prenatal exposure to alcohol. Diagnostic criteria are discussed, and possible moderating factors for the range of outcomes are mentioned. In addition, the prevalence of fetal alcohol spectrum disorders is described, and estimates of the financial impact of these disorders are given. Heavy prenatal alcohol exposure can severely affect the physical and neurobehavioral development of a child. Autopsy and brain imaging studies indicate reductions and abnormalities in overall brain size and shape, specifically in structures such as the cerebellum, basal ganglia, and corpus callosum. A wide range of neuropsychological deficits have been found in children prenatally exposed to alcohol, including deficits in visuospatial functioning, verbal and nonverbal learning, attention, and executive functioning. These children also exhibit a variety of behavioral problems that can further affect their daily functioning. Children exposed to alcohol prenatally, with and without the physical features of fetal alcohol syndrome, display qualitatively similar deficits. Determining the behavioral phenotypes that result from heavy prenatal alcohol exposure is critical, because the identification of these children is crucial for early interventions. In addition, knowing which brain areas are involved might enable the development of better intervention strategies. However, intervention needs to go beyond the affected individual to prevent future cases. As evidenced by the staggering financial impact these disorders have on society, prevention efforts need to be aimed at high-risk groups, and this issue needs to be made a high priority in terms of public health.     

Getting a head start: the importance of personal genetics education in high schools

With advances in sequencing technology, widespread and affordable genome sequencing will soon be a reality. However, studies suggest that "genetic literacy" of the general public is inadequate to prepare our society for this unprecedented access to our genetic information. As the current generation of high school students will come of age in an era when personal genetic information is increasingly utilized in health care, it is of vital importance to ensure these students understand the genetic concepts necessary to make informed medical decisions. These concepts include not only basic scientific knowledge, but also considerations of the ethical, legal, and social issues that will arise in the age of personal genomics. In this article, we review the current state of genetics education, highlight issues that we believe need to be addressed in a comprehensive genetics education curriculum, and describe our education efforts at the Harvard Medical School-based Personal Genetics Education Project.     

Anabolic steroids abuse and male infertility

For several decades, testosterone and its synthetic derivatives have been used with anabolic and androgenic purposes. These substances were first restricted to professional bodybuilders, but become more and more popular among recreational athletes. Up to date, 3,000,000 anabolic-androgenic steroids (AAS) users have been reported in the United States with an increasing prevalence, making AAS consumption a major public health growing concern. Infertility is defined by the WHO as the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse and a male factor is present in up to 50 % of all infertile couples. Several conditions may be related to male infertility.Substance abuse, including AAS, is commonly associated to transient or persistent impairment on male reproductive function, through different pathways. Herein, a brief overview on AAS is offered. Steroids biochemistry, patterns of use, physiological and clinical issues are enlightened. A further review about fertility outcomes among male AAS abusers is also presented, including the classic reports on transient anabolic steroid-induced hypogonadism (ASIH), and the more recent experimental reports on structural and genetic sperm damage.     

First principles of Hamiltonian medicine

We introduce the field of Hamiltonian medicine, which centres on the roles of genetic relatedness in human health and disease. Hamiltonian medicine represents the application of basic social-evolution theory, for interactions involving kinship, to core issues in medicine such as pathogens, cancer, optimal growth and mental illness. It encompasses three domains, which involve conflict and cooperation between: (i) microbes or cancer cells, within humans, (ii) genes expressed in humans, (iii) human individuals. A set of six core principles, based on these domains and their interfaces, serves to conceptually organize the field, and contextualize illustrative examples. The primary usefulness of Hamiltonian medicine is that, like Darwinian medicine more generally, it provides novel insights into what data will be productive to collect, to address important clinical and public health problems. Our synthesis of this nascent field is intended predominantly for evolutionary and behavioural biologists who aspire to address questions directly relevant to human health and disease.     

心脏发育过程中的信号调控机制研究

我国是出生缺陷高发国家,其中先天性心脏病在各类出生缺陷中居于首位,严重地影响我国的人口素质.同样,后天性心脏血管疾病（心血管疾病）也是影响国民健康和社会发展的主要疾病.近年来研究表明,所谓＂后天性＂心脏血管疾病虽然大多不在胚胎期表现出功能异常,但遗传因素在发病过程中也起关键作用,因此,＂后天性＂心血管疾病也有其发育生物学基础.在一些心血管疾病中,胚胎发育基因如ANF和β-MHC的表达说明胚胎发育的某些机制参与了发病过程.由于出生缺陷和心血管疾病的防治是我国公共卫生和社会发展中亟待解决的重大健康问题,了解心血管系统正常发生发育规律和机制及发病机理并在此基础上建立新的防治策略和防治措施是生命科学需要解决的重大基础科学问题.本文主要综述了目前模式动物,特别是小鼠心脏发育过程中的信号传导调控机制的研究现状及进展.     

国内外心力衰竭治疗质量评价的研究现状

心力衰竭是世界主要的公共卫生问题之一,庞大的心力衰竭患者消耗着大量的医疗资源。近几十年,世界各国专家越来越关注心力衰竭的治疗质量,评价治疗质量已成为医疗体制改革的一项措施。通过总结国内外心力衰竭治疗质量评价的组织机构、评价指标、治疗质量改善项目及有关评价研究,探讨我国心力衰竭治疗质量评价与国外的差距,针对出现的问题,提出相应的建议,为改善我国心力衰竭的治疗质量提供新思路。