88 research outputs found

    Sexuality, Privacy and the New Biology

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    This Article investigates two alternative methods of human conception: Specifically, the artificial insemination of unmarried women for either their own personal purposes of pregnancy without the benefit of marriage or as surrogates for infertile women. Surrogation is evaluated, then, as an analytic complement to the sexual privacy of women who are expressing their sexual freedom through unconventional means to become pregnant. The conclusion drawn is that an unmarried woman’s fundamental right to privacy or procreation does not encompass a right to either artificial insemination or surrogation. To allow unfettered access to these two methods of conception would - quite simply - undermine the basic foundation of the family in contemporary society which is found exclusively within the relationship of marriage. The courts have, over the course of history, acknowledged the desirability of having a child reared within a traditional family unit. Until that judicial attitude changes and/or states legislate in this area, unconditional use of these alternative methods of conception must be regulated. It should be noted that since the period during which this Article was written originally in 1983-1984, cultural attitudes have motivated a number of state courts and legislatures to clarify and re-structure normative standards of conduct for use of artificial insemination and surrogation and, as well, define the legal status of progeny born from these methods of reproduction. The original arguments advanced for limiting the use of both artificial insemination and surrogation by unmarried women still retain their merit, however

    Health-related quality of life of X-linked hypophosphatemia in Spain

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    Burden of disease; Health-related quality of life; X-linked hypophosphatemiaCarga de la enfermedad; Calidad de vida relacionada con la salud; Hipofosfatemia ligada al cromosoma XCĂ rrega de la malaltia; Qualitat de vida relacionada amb la salut; HipofosfatĂšmia lligada a XBackground Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, and problems with social integration. Early diagnosis and optimal treatment are paramount to control the disease in patients with XLH, avoid complications, and maintain or improve their HRQoL. We, therefore, analyzed the HRQoL of pediatric and adult patients with XLH treated with conventional therapy in Spain. Results We used several versions of the EuroQol-5 dimensions (EQ-5D) instrument according to the age of patients with XLH. Then we compared the HRQoL of patients to that of the general Spanish population. Children with XLH (n = 21) had moderate problems in walking about (61.9%), washing or dressing themselves (9.52%), and performing their usual activities (33.33%). They also felt moderate pain or discomfort (61.9%) and were moderately anxious or depressed (23.81%). Adults with XLH (n = 29) had lower HRQoL, with problems in walking (93%, with 3.45% unable to walk independently), some level of pain (86%, with 3.45% experiencing extreme pain), problems with their usual activities (80%) and self-care (> 50%), and reported symptoms of anxiety and/or depression (65%). There were important differences with the general Spanish population. Conclusions XLH impacts negatively on physical functioning and HRQoL of patients. In Spanish patients with XLH, the HRQoL was reduced despite conventional treatment, clearly indicating the need to improve the therapeutic approach to this disorder.This project was funded by Kyowa Kirin FarmacĂ©utica S.L., which did not participate in the design or development of the study and was not involved in the writing of the manuscript or the decision to publish

    HumMeth27QCReport: an R package for quality control and primary analysis of Illumina Infinium methylation data

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    <p>Abstract</p> <p>Background</p> <p>The study of the human DNA methylome has gained particular interest in the last few years. Researchers can nowadays investigate the potential role of DNA methylation in common disorders by taking advantage of new high-throughput technologies. Among these, Illumina Infinium assays can interrogate the methylation levels of hundreds of thousands of CpG sites, offering an ideal solution for genome-wide methylation profiling. However, like for other high-throughput technologies, the main bottleneck remains at the stage of data analysis rather than data production.</p> <p>Findings</p> <p>We have developed <it>HumMeth27QCReport</it>, an R package devoted to researchers wanting to quickly analyse their Illumina Infinium methylation arrays. This package automates quality control steps by generating a report including sample-independent and sample-dependent quality plots, and performs primary analysis of raw methylation calls by computing data normalization, statistics, and sample similarities. This package is available at CRAN repository, and can be integrated in any Galaxy instance through the implementation of ad-hoc scripts accessible at Galaxy Tool Shed.</p> <p>Conclusions</p> <p>Our package provides users of the Illumina Infinium Methylation assays with a simplified, automated, open-source quality control and primary analysis of their methylation data. Moreover, to enhance its use by experimental researchers, the tool is being distributed along with the scripts necessary for its implementation in the Galaxy workbench. Finally, although it was originally developed for HumanMethylation27, we proved its compatibility with data generated with the HumanMethylation450 Bead Chip.</p

    Spectroscopic evidence for topological band structure in FeTe0.55_{0.55}Se0.45_{0.45}

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    FeTe0.55_{0.55}Se0.45_{0.45}(FTS) occupies a special spot in modern condensed matter physics at the intersections of electron correlation, topology, and unconventional superconductivity. The bulk electronic structure of FTS is predicted to be topologically nontrivial thanks to the band inversion between the dxzd_{xz} and pzp_z bands along Γ\Gamma-ZZ. However, there remain debates in both the authenticity of the Dirac surface states (DSS) and the experimental deviations of band structure from the theoretical band inversion picture. Here we resolve these debates through a comprehensive ARPES investigation. We first observe a persistent DSS independent of kzk_z. Then, by comparing FTS with FeSe which has no band inversion along Γ\Gamma-ZZ, we identify the spectral weight fingerprint of both the presence of the pzp_z band and the inversion between the dxzd_{xz} and pzp_z bands. Furthermore, we propose a reconciling band structure under the framework of a tight-binding model preserving crystal symmetry. Our results highlight the significant influence of correlation on modifying the band structure and make a strong case for the existence of topological band structure in this unconventional superconductor

    Inter- and intracontinental migrations and local differentiation have shaped the contemporary epidemiological landscape of canine parvovirus in South America

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    Canine parvovirus (CPV) is a fast-evolving single-stranded DNA virus that causes one of the most significant infectious diseases of dogs. Although the virus dispersed over long distances in the past, current populations are considered to be spatially confined and with only a few instances of migration between specific localities. It is unclear whether these dynamics occur in South America where global studies have not been performed. The aim of this study is to analyze the patterns of genetic variability in South American CPV populations and explore their evolutionary relationships with global strains. Genomic sequences of sixty-three strains from South America and Europe were generated and analyzed using a phylodynamic approach. All the obtained strains belong to the CPV-2a lineage and associate with global strains in four monophyletic groups or clades. European and South American strains from all the countries here analyzed are representative of a widely distributed clade (Eur-I) that emerged in Southern Europe during 1990–98 to later spread to South America in the early 2000s. The emergence and spread of the Eur-I clade were correlated with a significant rise in the CPV effective population size in Europe and South America. The Asia-I clade includes strains from Asia and Uruguay. This clade originated in Asia during the late 1980s and evolved locally before spreading to South America during 2009–10. The third clade (Eur-II) comprises strains from Italy, Brazil, and Ecuador. This clade appears in South America as a consequence of an early introduction from Italy to Ecuador in the middle 1980s and has experienced extensive local genetic differentiation. Some strains from Argentina, Uruguay, and Brazil constitute an exclusive South American clade (SA-I) that emerged in Argentina in the 1990s. These results indicate that the current epidemiological scenario is a consequence of inter- and intracontinental migrations of strains with different geographic and temporal origins that set the conditions for competition and local differentiation of CPV populations. The coexistence and interaction of highly divergent strains are the main responsible for the drastic epidemiological changes observed in South America in the last two decades. This highlights the threat of invasion from external sources and the importance of whole-genome resolution to robustly infer the origin and spread of new CPV variants. From a taxonomic standpoint, the findings herein show that the classification system that uses a single amino acid to identify variants (2a, 2b, and 2c) within the CPV-2a lineage does not reflect phylogenetic relationships and is not suitable to analyze CPV evolution. In this regard, the identification of clades or sublineages within circulating CPV strains is the first step towards a genetic and evolutionary classification of the virus

    Distinct Campylobacter fetus lineages adapted as livestock pathogens and human pathobionts in the intestinal microbiota

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    Campylobacter fetus is a venereal pathogen of cattle and sheep, and an opportunistic human pathogen. It is often assumed that C. fetus infection occurs in humans as a zoonosis through food chain transmission. Here we show that mammalian C. fetus consists of distinct evolutionary lineages, primarily associated with either human or bovine hosts. We use whole-genome phylogenetics on 182 strains from 17 countries to provide evidence that C. fetus may have originated in humans around 10,500 years ago and may have "jumped" into cattle during the livestock domestication period. We detect C. fetus genomes in 8% of healthy human fecal metagenomes, where the human-associated lineages are the dominant type (78%). Thus, our work suggests that C. fetus is an unappreciated human intestinal pathobiont likely spread by human to human transmission. This genome-based evolutionary framework will facilitate C. fetus epidemiology research and the development of improved molecular diagnostics and prevention schemes for this neglected pathoge
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