Genetic Dissection of the AZF Regions of the Human Y Chromosome: Thriller or Filler for Male (In)fertility?

The azoospermia factor (AZF) regions consist of three genetic domains in the long arm of the human Y chromosome referred to as AZFa, AZFb and AZFc. These are of importance for male fertility since they are home to genes required for spermatogenesis. In this paper a comprehensive analysis of AZF structure and gene content will be undertaken. Particular care will be given to the molecular mechanisms underlying the spermatogenic impairment phenotypes associated to AZF deletions. Analysis of the 14 different AZF genes or gene families argues for the existence of functional asymmetries between the determinants; while some are prominent players in spermatogenesis, others seem to modulate more subtly the program. In this regard, evidence supporting the notion that DDX3Y, KDM5D, RBMY1A1, DAZ, and CDY represent key AZF spermatogenic determinants will be discussed

Evolutionarily conserved mechanisms of male germline development in flowering plants and animals

Sexual reproduction is the main reproductive strategy of the overwhelming majority of eukaryotes. This suggests that the last eukaryotic common ancestor was able to reproduce sexually. Sexual reproduction reflects the ability to perform meiosis, and ultimately generating gametes, which are cells that carry recombined half sets of the parental genome and are able to fertilize. These functions have been allocated to a highly specialized cell lineage: the germline. Given its significant evolutionary conservation, it is to be expected that the germline programme shares common molecular bases across extremely divergent eukaryotic species. In the present review, we aim to identify the unifying principles of male germline establishment and development by comparing two very disparate kingdoms: plants and animals. We argue that male meiosis defines two temporally regulated gene expression programmes: the first is required for meiotic commitment, and the second is required for the acquisition of fertilizing ability. Small RNA pathways are a further key communality, ultimately ensuring the epigenetic stability of the information conveyed by the male germline

Sex and suicide : the curious case of Toll-like receptors

Copyright: © 2020 Navarro-Costa et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.During in vitro fertilisation (IVF), pharmacological activation of the murine X chromosome–encoded receptor proteins Toll-like receptor (TLR) 7 and TLR8 reportedly results in male-biased litters by selectively disrupting the motility of X-bearing sperm cells. Thus—in the context of agonist treatment during IVF—these receptors act as ‘suicidal’ segregation distorters that impair their own transmission to the next generation. Such behaviour would, from an evolutionary perspective, be strongly selected against if present during natural fertilisation. Consequently, TLR7/8 biology in vivo must differ significantly from this in vitro situation to allow these genes to persist in the genome. Here, we use our current understanding of male germ cell biology and TLR function as a starting point to explore the mechanistic and evolutionary aspects of this apparent paradox.The following funding sources are acknowledged: PAN-C, Fundação para a Ciência e a Tecnologia (PTDC/MEC-AND/30221/2017); AM, Damon Runyon Cancer Research Foundation (DRG:2192-14) and NIH (R01 GM074108); CSM, Fundação para a Ciência e a Tecnologia doctoral scholarship (PD/BD/114362/2016); CDM, NIH R01-GM123194; and PJE, the UK Higher Education Funding Council for England (HEFCE), the Biotechnology and Biological Sciences Research Council (BBSRC, BB/N000463/1), and the Leverhulme Trust (RPG-2019-414 194). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.info:eu-repo/semantics/publishedVersio

MAternal Mental Health in the WORKplace (MAMH@WORK): a protocol for promoting perinatal maternal mental health and wellbeing

© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).Women are exposed to increased burden of mental disorders during the perinatal period: 13–19% experience postpartum depression. Perinatal psychological suffering affects early mother-child relationship, impacting child’s emotional and cognitive development. Return-to-work brings additional vulnerability given the required balance between parenting and job demands. The MAternal Mental Health in the WORKplace (MAMH@WORK) project aims to develop and evaluate the effectiveness of a brief and sustainable intervention, promoting (a) maternal mental health throughout pregnancy and first 12 months after delivery, and (b) quality of mother–child interactions, child emotional self-regulation, and cognitive self-control, while (c) reducing perinatal absenteeism and presenteeism. MAMH@WORK is a three-arm randomized controlled trial. A short-term cognitive-behavioral therapy-based (CBT-based) psychoeducation plus biofeedback intervention will be implemented by psychiatrists and psychologists, following a standardized procedure manual developed after consensus (Delphi method). Participants (n = 225, primiparous, singleton pregnant women at 28–30 weeks gestational age, aged 18–40 years, employed) will be randomly allocated to arms: CBT-based psychoeducation intervention (including mindfulness); psychoeducation plus biofeedback intervention; and control. Assessments will take place before and after delivery. Main outcomes (and main tools): mental health literacy (MHLS), psychological wellbeing (HADS, EPDS, KBS, CD-RISC, BRIEF COPE), quality of mother–child interaction, child–mother attachment, child emotional self-regulation and cognitive self-control (including PBQ, Strange Situation Procedure, QDIBRB, SGS-II, CARE-Index), job engagement (UWES), and presenteeism. Intention-to-treat and per-protocol analyses will be conducted; Cohen’s d coefficient, Cramer’s V and odds ratio will be used to assess the effect size of the intervention. MAMH@WORK is expected to contribute to mental health promotion during the perinatal period and beyond. Its results have the potential to inform health policies regarding work–life balance and maternal mental health and wellbeing promotion in the workplace.The development of this protocol has benefited from the funding from FCT, under the grants UIDB/04295/2020 and UIDP/04295/2020.info:eu-repo/semantics/publishedVersio

Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers

BACKGROUND: The AZFc region of the human Y chromosome is a highly recombinogenic locus containing multi-copy male fertility genes located in repeated DNA blocks (amplicons). These AZFc gene families exhibit slight sequence variations between copies which are considered to have functional relevance. Yet, partial AZFc deletions yield phenotypes ranging from normospermia to azoospermia, thwarting definite conclusions on their real impact on fertility. RESULTS: The amplicon content of partial AZFc deletion products was characterized with novel amplicon-specific sequence markers. Data indicate that partial AZFc deletions are a male infertility risk [odds ratio: 5.6 (95% CI: 1.6–30.1)] and although high diversity of partial deletion products and sequence conversion profiles were recorded, the AZFc marker profiles detected in fertile men were also observed in infertile men. Additionally, the assessment of rearrangement recurrence by Y-lineage analysis indicated that while partial AZFc deletions occurred in highly diverse samples, haplotype diversity was minimal in fertile men sharing identical marker profiles. CONCLUSION: Although partial AZFc deletion products are highly heterogeneous in terms of amplicon content, this plasticity is not sufficient to account for the observed phenotypical variance. The lack of causative association between the deletion of specific gene copies and infertility suggests that AZFc gene content might be part of a multifactorial network, with Y-lineage evolution emerging as a possible phenotype modulator

ASPECTOS CLÍNICOS E DIAGNÓSTICO DA DOENÇA INFLAMATÓRIA DO COLO DO ÚTERO

Inflammatory disease of the cervix is a condition that can cause significant complications for female reproductive health. This study aims to review the available literature on the clinical and diagnostic aspects of this disease, using an integrative review. The databases Scientific Electronic Library Online (SCIELO) and Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS) were used for data collection. The results indicated that early identification and accurate diagnosis are crucial for effective treatment and prevention of serious complications. Diagnostic methods include clinical exams, cytology, colposcopy, and molecular biology tests. The review highlighted the need for a continuous and multidisciplinary approach for effective disease management. It concludes that health education and access to quality diagnostic services are fundamental for the prevention and control of inflammatory disease of the cervix.A doença inflamatória do colo do útero é uma condição que pode causar significativas complicações para a saúde reprodutiva feminina. Este estudo tem como objetivo revisar a literatura disponível sobre os aspectos clínicos e diagnósticos dessa doença, utilizando uma revisão integrativa. As bases de dados Scientific Electronic Library Online (SCIELO) e Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS) foram utilizadas para a coleta de dados. Os resultados indicaram que a identificação precoce e o diagnóstico preciso são cruciais para o tratamento eficaz e a prevenção de complicações graves. Os métodos diagnósticos incluem exames clínicos, citologia, colposcopia e testes de biologia molecular. A revisão destacou a necessidade de uma abordagem multidisciplinar e contínua para a gestão eficaz da doença. Conclui-se que a educação em saúde e o acesso a serviços de diagnóstico de qualidade são fundamentais para a prevenção e controle da doença inflamatória do colo do útero

Access Of Women In Jail To Cytological Exam: A Quantitative Analysis

Goal: to know the access of women prisoners to cytological examination. Method: exploratory-descriptive quantitative study, carried out at the Maria Júlia Maranhão Female Rehabilitation Center, in the city of João Pessoa/PB. The study population was of all closed regimens, and the minimum sample was 168 (one hundred and sixty-eight). Data collection was formalized through approval by the Research Ethics Committee of the Faculdade de Enfermagem Nova Esperança (FACENE), CAAE: 18363713.8.0000.5179, besides the official referral of the Coordination of the Course to said prison. The present study respected the ethical aspects recommended by Resolution CNS 466/12, in art. III, of the ethical aspects, which deals with the involvement with human beings in research, as well as Resolution COFEN 311/2007, which deals with the code of ethics of nursing professionals.   Results and Discussion: data from the survey show that 33% of study participants were between the ages of 18 and 25; 58% reported being single; 48% have Incomplete Elementary Education; 39% with the profession of domestic; 48% have a family income of one minimum wage; 58% have one to two years imprisonment; 74% inflicted the drug trafficking article; 67% mentioned working in general prison services.   Conclusion: it is concluded that the participants of the research report having knowledge about the exam, but their answers do not correspond to the true meaning of the exam, showing the lack of knowledge, information, assistance and abandonment in which they live.   Descriptors: Women. Papanicolaou Test. Prisoners. Nursing

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio