Reproductive health in Turner syndrome: A narrative review

Turner syndrome (TS), a common chromosomal abnormality affecting females, is associated with partial or complete loss of the second sex chromosome. Although the classic karyotype is 45, X, the detection of mosaic TS is increasing. TS is a multi-system disorder with significant endocrine, cardiovascular and reproductive impacts. Accelerated ovarian follicular loss leads to primary amenorrhoea or premature ovarian insufficiency and infertility. Early diagnosis and counselling regarding hormone replacement therapy and future reproductive capacity, including fertility preservation, are essential to improve reproductive outcomes. Pubertal induction or estrogen replacement is usually required to optimise long-term health outcomes; however, initiation may be delayed due to delayed diagnosis. Spontaneous pregnancy occurs in a small number of women; however, many require donor oocytes and assisted reproductive technology to achieve a pregnancy. Pregnancy is a high risk especially when associated with congenital heart disease. Prepregnancy counselling by the multidisciplinary team (MDT) to identify contraindications and optimise pre-existing health issues is essential. Pregnancy management should be led by a maternal-fetal medicine unit with input from the MDT. This review examines reproductive health outcomes in women with TS and how best to manage them to reduce health risks and improve maternal and neonatal outcomes.     

Effects of environmental contaminants on fertility and reproductive health

Recent research indicates that the human infertility rate is increasing. Although various reasons have been hypothesized for the growing infertility rate, environmental contaminants are potentially important causal agents associated with this change. Chemical contaminants are widespread throughout our environment and human exposure is virtually unavoidable. The overall contribution of environmental exposure to infertility is unknown, but studies involving occupational exposure, together with results from animal experiments, suggest that environmental contaminants may adversely affect fertility. We reviewed the adverse effects of environmental exposure on fertility and related reproductive outcomes. Environmental contaminants covered in this review include heavy metals, organic solvents, pesticides and endocrine disrupting chemicals. It is hoped that this review will highlight the need for further research in this area.     

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

The birth prevalence of each common autosomal trisomy (21, 18 and 13) increases with advancing maternal age and this is the most important epidemiological risk factor. Prevalence during pregnancy is also dependent on gestational age. Other factors claimed to influence prevalence include paternal age, ethnicity, family history, premature reproductive aging, parity, twinning, smoking, environmental exposures, maternal medical conditions, and predispositions. We review the evidence for these associations since they may provide insights into causal mechanisms. When investigating potential co-factors it is important to adequately allow for maternal age and minimize its confounding contribution. This is well illustrated by reports of an inverse paternal age effect where there is strong correlation between parental ages. Gestational age at diagnosis, availability of prenatal screening, diagnostic testing, and elective termination of affected pregnancies and healthcare disparities also confound the studies on ethnicity, medical conditions, and predispositions or environmental factors. Data from twin zygosity studies demonstrate the importance of differences in fetal viability for affected pregnancies. We conclude that existing epidemiological evidence for most of the co-factors discussed should currently be considered tenuous; history of Down syndrome, albeit biased, may be an exception. The co-factors may yet provide clues to hitherto poorly understood causal pathways.     

Origins and mechanisms leading to aneuploidy in human eggs

The gain or loss of a chromosome—or aneuploidy—acts as one of the major triggers for infertility and pregnancy loss in humans. These chromosomal abnormalities affect more than 40% of eggs in women at both ends of the age spectrum, that is, young girls as well as women of advancing maternal age. Recent studies in human oocytes and embryos using genomics, cytogenetics, and in silico modeling all provide new insight into the rates and potential genetic and cellular factors associated with aneuploidy at varying stages of development. Here, we review recent studies that are shedding light on potential molecular mechanisms of chromosome missegregation in oocytes and embryos across the entire female reproductive life span.     

Prenatal screening and diagnosis of congenital toxoplasmosis: a review of safety issues and psychological consequences for women who undergo screening

As part of the EUROTOXO initiative, this review focuses on the potential risks associated with prenatal testing for congenital toxoplasmosis. We first review the evidence on the risks of adverse events associated with amniocentesis, which is required for definitive diagnosis of toxoplasmosis infection in the fetus, and for which the most important risk is fetal loss. To date, there has been only one randomized trial to document risks associated with amniocentesis. This trial, which was conducted in 1986, reported a procedure-related rate of fetal loss of 1.0% (95% CI, 0.3–1.5). However, evidence from available controlled studies suggests that the pregnancy loss associated with mid-trimester amniocentesis may be lower. Potential psychological consequences of prenatal testing for congenital toxoplasmosis include parental anxiety due to false positive results and uncertainties related to prognosis of children with a prenatal diagnosis of congenital toxoplasmosis. Parental anxiety may be particularly important in screening strategies that include more frequent screenings, which may in turn entail substantial, and at times unnecessary, anxiety or other negative consequences for women and their families. These negative psychological outcomes should be balanced against the benefits of testing, which can allow women to make an informed choice regarding the pregnancy. Copyright © 2007 John Wiley & Sons, Ltd.     

Maternal genetic disorders and fetal development

With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders.     

Temporal trends in organophosphorus pesticides use and concentrations in river water in Japan, and risk assessment

We reviewed organophosphorus pesticide use in Japan between 1982 and 2016 using data from the National Institute of Environmental Studies. Organophosphorus pesticide concentrations in river water throughout Japan were taken from the literature, and risk assessments were performed for some organophosphorus pesticides based on risk quotients and hazard quotients. Assessments were performed for 20 common pesticides, including insecticides, fungicides, and herbicides. The amounts used decreased in the order: insecticides?>?herbicides?>?fungicides. Organophosphorus insecticide and fungicide use have decreased over the last four decades, but organophosphorus herbicide use has increased. During this period, annual organophosphorus pesticide use was the highest for chlorpyrifos (105,263?tons/year) and the lowest for glyphosate-sodium (8?tons/year). The ecotoxicological risk assessment indicated that diazinon and fenitrothion posed strong risks to the Japanese aquatic environment, and chlorpyrifos and malathion have moderate risks. None of the pesticides that were assessed posed significant risks to humans. Continued use of organophosphorus pesticides in Japan may cause strong risks to aquatic environments. These risks should be reassessed periodically.     

Aggressions and size-related fecundity of queenless workers in the ant <Emphasis Type="Italic">Cataglyphis cursor</Emphasis>

In social hymenoptera, the reproductive division of labor is often linked to differences in individual body size with the reproductive caste (the queen) being larger than the workers. Likewise, the reproductive potential may vary with size within the worker caste and could affect the evolution of worker size in social insects. Here, we tested the relationship between worker size and reproductive potential in the facultative parthenogenetic ant Cataglyphis cursor. Colonies are headed by a multiply mated queen, but workers can produce gynes (virgin queens) and workers by thelytokous parthenogenesis after the queen's death. We observed the behaviour of workers (n = 357) until the production of gynes (212 h over 3 months) in an orphaned colony (mated queen not present). The size of workers was measured, and their paternal lineage determined using six microsatellite markers, to control for an effect of patriline. Larger workers were more likely to reproduce and lay more eggs indicating that individual level selection could take place. However, paternal lineage had no effect on the reproductive potential and worker size. From the behavioural and genetic data, we also show for the first time in this species, evidence of aggressive interactions among workers and a potential for nepotism to occur in orphaned colonies, as the five gynes produced belonged to a single paternal lineage.     

Maternal thyroid disease and its effects on the fetus and perinatal outcomes

Thyroid disease is common in women of childbearing age and can have significant effects on the development of the fetus and perinatal outcomes. Maternal thyroid hormone is critical for proper fetal neurodevelopment, and the fetus relies on thyroid hormone from its mother for the first half of pregnancy. Both overt maternal hypothyroidism and overt maternal hyperthyroidism have been shown to be associated with adverse effects on central nervous system gray matter and neurocognitive development of offspring as well as increased obstetrical risks. Treatment of overt thyroid conditions improves outcomes. Subclinical maternal hypothyroidism may increase adverse neurocognitive and obstetrical outcomes although data are conflicting. To date, treatment of subclinical hypothyroidism has not shown benefit. Subclinical hyperthyroidism is well tolerated in pregnancy. Thyroid autoantibodies alone may also affect neurodevelopment and obstetrical outcomes; however, recent data have shown no improvement with levothyroxine treatment. Several rare maternal genetic thyroid conditions can affect the fetus including a thyroid-stimulating hormone receptor mutation leading to hypersensitivity to human chorionic gonadotropin and thyroid hormone resistance. The thyroid plays a crucial role in fetal health and understanding it is important for optimal care.     

Perinatal outcome after maternal primary cytomegalovirus infection in the first trimester: a practical update and counseling aid

Cytomegalovirus (CMV) is the most common cause of congenital infection with approximately 0.5% of pregnant women in developed countries seroconverting during pregnancy. In utero transmission occurs in about one third of women who develop primary infection in the first trimester, and these fetuses are at risk for adverse perinatal outcomes and long-term neurological complications. The great promise of a prenatal therapy to reduce fetal infection after maternal primary CMV infection has not been realized to date. The prediction of CMV sequelae is particularly challenging for clinicians because of the heterogeneity of the published literature, the wide spectrum of perinatal outcomes, the adjustment of fetal risk at each stage of assessment, and the variable quality of published data. Given the continued lack of a proven fetal therapy, it is timely to review the natural history of congenital CMV in the modern management era. We have analyzed the recent literature, integrated findings from multiple studies, and calculated stage-specific risks for adverse perinatal outcome to assist in counseling women with first trimester primary CMV infection. © 2014 John Wiley & Sons, Ltd.     

Pregnancy and postnatal outcome of mosaic isochromosome 20q

Prenatally diagnosed mosaicism for isochromosome 20q is generally reported in association with a normal outcome at birth and is rarely confirmed postnatally. However, the origin of these abnormal cells is unclear and there are few reports of long-term outcomes. We present an additional case of prenatally detected isochromosome 20q, with normal outcome up to age 3.6 years. The abnormal cells, while present at high levels in the amniotic fluid, could not be confirmed in placenta or fetal blood. Nonetheless, based on a review of the literature, the level of isochromosome 20q cells found is associated with risk of abnormal outcome, suggesting a possible effect in some cases. Copyright © 2006 John Wiley & Sons, Ltd.     

Toxic metals in amniotic fluid and altered gene expression in cell-free fetal RNA

Both exposures to toxic metals, as well as deficiencies in essential metals, during pregnancy has been linked to a variety of negative reproductive outcomes. The exact etiologies of such outcomes and the effects of fetal exposure to these metals are largely unknown. Therefore, the ability to assess levels of these elements is critical to determining the underlying causes of such conditions and the effects that both essential and nonessential metals have on fetal development. Thus, using cell-free fetal RNA from amniotic fluid, we set out to measure the association between amniotic fluid levels of toxic and essential metals and fetal gene expression. We find that arsenic was associated with increased expression of 3 genes known to play roles in both birth-related and reproductive effects. The results highlight the potential for detrimental health effects of prenatal metals exposure and the potential to identify biomarkers of environmental exposure during this critical developmental period.     

Disaster reduction,loss and damage data,and the post-2015 international policy agenda

Disaster risk management, particularly management of climate-related risks, has become central to the international policy agenda. Reducing hazard-related loss and damage relies heavily on scientific inputs. Science, in turn, relies on data—in this case 1) risk-related data on hazards, exposure and vulnerability, and 2) data on associated loss and damage outcomes. The latter, data on losses and damage, are also post-2015 international policy outcome indicators at the highest level, required for countries’ monitoring of progress in reducing disaster risk, adapting to climate change, and achieving sustainable development. Although the quantity and accessibility of loss and damage data are improving, a number of issues continue to constrain their potential. These include needs for more consistent cataloguing of hazards and extreme events, more systematic and accurate documentation of per-event losses and damage, more precise cross-referencing of hazard events with associated loss and damage, and improved standardization and interoperability among databases. We identify measures for improvement in this regard, both for research purposes and for post-2015 international policy implementation.     

微塑料的老化特性、机制及其对污染物吸附影响的研究进展

针对微塑料的老化特性、机制及其对污染物吸附的研究进展进行了归纳总结：（1）微塑料在环境中经长期老化,其表面变得粗糙不平,部分呈现薄片状脱落,造成比表面积增加,同时在光照、氧气等老化因子作用下,形成羟基、羧基等含氧官能团;此外由于微塑料长期受到老化作用,其聚合物中的长链发生断裂,引起结晶度的变化.（2）微塑料老化过程主要涉及多方面：物理层面上,受到外界剪切力和拉伸力的作用引起聚合物内部的分子链断链,破坏其稳定结构;化学层面上,光氧化降解是其主要的老化机理;生物层面上,通过定殖生物在微塑料表面形成的生物膜引起其物理、化学特性（粗糙度、表面电荷、表面自由能）的变化.（3）微塑料老化后对污染物的吸附能力增强,吸附主要通过范德华力、静电作用、络合作用、疏水作用、氢键等作用方式吸附重金属和有机污染物.未来应加强微塑料在真实自然环境中老化特征及同多种污染物的交互作用的研究,以模型量化表示其内在联系,为科学合理地认识微塑料的环境行为及生态风险评估提供理论依据.     

A longitudinal study of age-specific reproductive output and body condition among male rhesus macaques,<Emphasis Type="Italic"> Macaca mulatta</Emphasis>

In many mammalian species, male reproductive success appears to climb sharply at young adulthood, form a brief plateau during prime ages, and decline among older animals, a pattern often attributed to reduced physical condition with ageing. However, solid evidence to either substantiate or refute this profile among nonhuman primates is lacking. Here, we combine a decade of genetic analysis of paternity among free-ranging rhesus macaques, Macaca mulatta, with information about body condition in order to evaluate how changes in morphology might govern age-specific reproduction among males. We show that age-specific reproductive success traverses the same life history profile as found in other mammals, but reductions in reproductive output with advanced age were associated with reduced chances of survivorship rather than accompanied by diminished body condition. We demonstrate that variance in male age at onset of reproduction is three times greater than variance in female age at onset of reproduction. We provide the first evidence from primates that age-specific reproductive output among males is not a consequence of age-related changes in body condition, but reflects social and demographic factors.     

北京市不同年龄人群PM2.5载带重金属的健康风险

在北京中心城区（北2~3环路）利用大流量颗粒物采样器连续采集了2016年全年共218个PM_2.5样品,通过电感耦合等离子体原子发射光谱法（ICP-AES）测定了其中9种重金属元素,即As、Cd、Co、Cr、Cu、Ni、Pb、V、Zn.结合我国人群暴露参数,利用美国环保署推荐的健康风险评价模型,对北京市1~80岁不同年龄人群致癌非致癌健康风险进行了评价.结果显示：2016年北京市PM_2.5重金属中Zn、Pb、Cu质量浓度最大,依次为（291±553）ng/m³、（53.6±73.5）ng/m³、（25.0±59.7）ng/m³,其次为As、Ni;所有重金属中,As具有最大致癌风险贡献（62.5%）,Co具有最大非致癌风险贡献（29.0%）.不同年龄、性别人群的重金属危害指数（HI）均小于1,显示无非致癌健康风险,另外,儿童期HI值大于成人期.不同年龄、性别人群的重金属总致癌风险（CR）均位于10^-6与10^-4范围（即每1万~100万的人群数量中增加1个癌症患者）,显示无显著致癌风险,另外,随着年龄的增长致癌风险增加.此外,同一年龄人群中,女性致癌及非致癌风险均稍低于男性.     

Surplus production,compensation, and impact assessments of power plants

For over 60 years, fishery scientists have been using the argument that nature creates surplus, and that the surplus can be used as justification to impose anthropogenic sources of mortality (power plants, fishing, pollution, etc.) on fish populations; otherwise, it is wasted. Surplus production is closely tied to the concept of compensation, a form of density-dependent mortality in which the mortality rate of a cohort is directly related to abundance of that cohort. Scientific arguments have been put forth in assessments of power plant impacts that compensation can at least partially offset impacts imposed by power plants. Although we cannot dismiss the existence of surplus production outright, since in some years environmental conditions are such that a surplus in reproductive effort may occur, we should be assessing the reproductive effort of fish populations in the context of the ecosystem in which they reside. In terms of addressing the risks of power plant mortality, we may be at a point in collection and analyses of biological data, coupled with a greater flexibility in managing power plant technology, to modulate the risks of power plant mortality on fish populations on a more-or-less real-time basis by taking into account environmental influences. For these reasons, assessments of power plant impacts should include analyses of predation forgone and production forgone.     

Risks in urban rooftop agriculture: Assessing stakeholders’ perceptions to ensure efficient policymaking

Rooftop agriculture (RA) is an innovative form of urban agriculture that takes advantage of unused urban spaces while promoting local food production. However, the implementation of RA projects is limited due to stakeholders’ perceived risks. Such risks should be addressed and minimized in policymaking processes to ensure the sustainable deployment of RA initiatives. This paper evaluates the risks that stakeholders perceive in RA and compares these perceptions with the currently available knowledge, including scientific literature, practices and market trends. Qualitative interviews with 56 stakeholders from Berlin and Barcelona were analyzed for this purpose. The results show that perceived risks can be grouped into five main categories: i) risks associated with urban integration (e.g., conflicts with images of “agriculture”), ii) risks associated with the production system (e.g., gentrification potential), iii) risks associated with food products (e.g., soil-less growing techniques are “unnatural”), iv) environmental risks (e.g., limited organic certification) and v) economic risks (e.g., competition with other rooftop uses). These risks are primarily related to a lack of (scientific) knowledge, insufficient communication and non-integrative policymaking. We offer recommendations for efficient project design and policymaking processes. In particular, demonstration and dissemination activities as well as participatory policymaking can narrow the communication gap between RA developers and citizens.     

Triplet pregnancy: What do we tell the prospective parents

Experience managing triplet pregnancies has increased over the past few decades as the incidence has changed related to assisted reproductive practices. Physicians caring for women carrying triplets cannot predict an individual outcome or pregnancy course but must educate patients about the challenges related to these high risk pregnancies. Obstetric providers can describe the wide range of risks associated with triplet gestations, and the general plan for management, but ultimately parents must make decisions with potentially lifelong consequences. Here, we present the diagnostic criteria, common complications, and management options for triplet pregnancies, to help obstetricians counsel patients on the medical and psychosocial consequences of triplet pregnancy, potential complications, and multifetal reduction.     

Effects of life-history traits on parasitism in a monogamous mammal, the eastern rock sengi (Elephantulus myurus)

The distribution of parasites is often characterised by substantial aggregation with a small proportion of hosts harbouring the majority of parasites. This pattern can be generated by abiotic and biotic factors that affect hosts and determine host exposure and susceptibility to parasites. Climate factors can change a host’s investment in life-history traits (e.g. growth, reproduction) generating temporal patterns of parasite aggregation. Similarly, host age may affect such investment. Furthermore, sex-biased parasitism is common among vertebrates and has been linked to sexual dimorphism in morphology, behaviour and physiology. Studies exploring sex-biased parasitism have been almost exclusively conducted on polygynous species where dimorphic traits are often correlated. We investigated the effects of season and life-history traits on tick loads of the monogamous eastern rock sengi (Elephantulus myurus). We found larger tick burdens during the non-breeding season possibly as a result of energetic constraints and/or climate effects on the tick. Reproductive investment resulted in increased larval abundance for females but not males and may be linked to sex-specific life-history strategies. The costs of reproduction could also explain the observed age effect with yearling individuals harbouring lower larval burdens than adults. Although adult males had the greatest larval tick loads, host sex appears to play a minor role in generating the observed parasite heterogeneities. Our study suggests that reproductive investment plays a major role for parasite patterns in the study species.