918 resultados para consanguineous marriage


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In Western societies the increase in female employment (especially among married women) is seen as having brought about the crisis of the traditional model of the family, reinforcing the position of the "modern" model - the egalitarian family with two working spouses and a "dual-career" family. In contrast, the transitional situation in the post-communist countries during the 1990s is producing a crisis of the family with two working spouses (the basic type of the communist period) and leading to new power relations within the family. While the growth of dual-earner households in this century has implied modification of family models towards greater symmetry of responsibility for breadwinning and homemaking, there is considerable evidence that women's increased employment does not necessarily lead to a more egalitarian approach to gender roles within the family. The group set out to investigate the economic situation of families and economic power within the fame as a crucial factor in the transformation of families with two working spouses in order to reveal the specific patterns of gender contracts and power relations within the family that are emerging in response to the current political and economic transformation. They opted for a comparative approach, selecting the Czech Republic as a country where the very similar tendencies of a few years ago (almost 100% of women employed and the family as a realm of considerable private freedom where both women's and men's gender identities and the traditional distribution of family responsibilities were largely preserved) are combined with a very different experience in terms of economic inequalities during the 1990s to that of Russia. In the first stage of the study they surveyed 300 married couples (150 in each country) on the question of breadwinning. They then carried out in-depth interviews with 10 couples from each country (selected from among the educated layers of the population), focusing on the process of the social construction of gender, using breadwinning and homemaking as gender boundaries which distinguish men from women. By analysing changes in social position and the type of interpersonal interaction of spouses they distinguished two main types of family contracts: the neo-traditional "communal sharing" (with male breadwinner, traditional distribution of family chores and negotiated family power) and the modern one based on negotiated agreement. The most important pre-conditions of husband-wife agreement about breadwinning seemed to imply their overall gender ideology rather than the economic and/or family circumstances. In general, wives were more likely to express egalitarian views, supporting the blurring or even elimination of many gender boundaries. Husbands, on the other hand, more often gave responses calling for the continued maintenance of gender boundaries. The analysis showed that breadwinning is still an important gender boundary in these cultures, one that is assumed unless it is explicitly questioned and that is seen as part of what makes a man a "real man". The majority of respondents seemed to be committed to egalitarian ideology on gender roles and the distribution of family tasks, including decision making, but this is contradicted by the persistent idea of the husband as the breadwinner. This contradiction is more characteristic of the Russian situation than of the Czech. The quantitative study showed a difference in prevailing family models between the two countries, with a clearer shift towards the traditional family contract in the Russian case. The Czechs were more likely to consider their partnerships as based on negotiated agreement, while the Russians saw theirs as based on egalitarian contract, in both cases seeing this as the norm. The majority of couples said they felt satisfied with their marriage, although in both countries wives seemed to be less satisfied. There was however a difference in the issues that aroused dissatisfaction, with Czech women being more sensitive to issues such as self-realisation, personal independence, understanding and recognition in the family, and Russians to issues of love, understanding and recognition. The most disputed area for the majority of families was chores in the home, presumably because in many families both husband and wife were working hard outside the home and because a number of partners had differing views as to the ideal distribution of chores within the family. The distribution of power in the family seems to be linked to the level of well being. The analysis showed that in the dominant democratic model there is still an inverse connection between family leadership and well being: the more prominent the wife's position as head of the family is, the lower the level of family income. This may reflect both the husband's refusal to play the leading role in the family and even his rejection of any involvement in family issues in such a family. The qualitative research revealed that both men and women see the breadwinning role to be an essential part of masculine identity, a role which the female partner would take on temporarily to assist the male but not permanently since this would threaten the gender boundaries and the man's identity. At the same time, few breadwinners expressed a sense of job satisfaction and all considered their choice as imposed on them by the circumstances (i.e. having a family in difficult times). The group feel that family orientation and some loss of personal involvement in their profession is partly reflected in the fact that many of the men felt more comfortable and self-confident at home than at work. Women's work, on the other hand, was largely seen as a source of personal and self-realisation and social life. Eight out of ten of the Russian women interviewed were employed, although only two on a full-time basis, but none saw their jobs as adding substantially to the family budget. Both partners see the most important factor as the wife's wish to work or stay at home, and do not think it wise for the wife to work at the expense of her part of the "family contract", although husbands from the "egalitarian" relationships expressed more willingness to compromise. The analysis showed clearly that wives and husbands did not construct gender boundaries in isolation, with the interviews providing clear evidence of negotiation. At the same time, husbands' interpretations of their wives' employment were less susceptible to the influence of negotiation than were their gender attitudes and norms about breadwinning. One of the most interesting aspects of the spouses' negotiations was the extent to which they disagreed about what they seemed to have agreed upon. Most disagreements about the breadwinning boundaries, however, were over norms and were settled by changes in norms rather than in behavioural interpretation. Changes in norms were often a form of peace offering or were in response in changes in circumstances. The study did show, however, that many of the efforts at cooperation and compensation were more symbolic than real and the group found the plasticity of expressed gender ideology to be one of the most striking findings of their work. They conclude that the shift towards more traditional gednder distributions of incomes and domestic chores does not automatically mean the reestablishment of a patriarchal model of family power. On the contrary, it seems to be a compromise formation, relatively unstable, temporary and containing self-defeating forces as the split between the personal and professional value of work and its social value expressed in a money equivalent cannot be maintained for generations.

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The youth of Massachusetts are of primary concern to legislators and citizens. This briefing report features three essays by experts — Fern Johnson, Deborah Frank, and Donna Haig Friedman — who focus on three aspects of children in need: children in foster care who need adoption, children who are hungry, and children who are homeless. Each report has further and more detailed suggestions for helping these children in need; below is a summary of the problems we face.

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PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with markers flanking 12 loci associated with LCA. The 15 exons of TULP1 were sequenced. RESULTS: Seven of 30 examined family members were affected, including five with EORD and two with LCA. All patients had nystagmus, hemeralopia, mild myopia, and low visual acuity without photophobia. Fundus features were variable among EORD patients: typical spicular retinitis pigmentosa or clumped pigmented retinopathy with age-dependent macular involvement. A salt-and-pepper retinopathy with midperipheral retinal pigment epithelium (RPE) atrophy was present in the older patients with LCA, whereas the retina appeared virtually normal in the younger ones. Both scotopic and photopic electroretinograms were nondetectable. Fundus imaging revealed a perifoveal ring of increased fundus autofluorescence (FAF) in the proband, and optical coherence tomography disclosed a thinned retina, mainly due to photoreceptor loss. Linkage analysis identified a region of homozygosity on chromosome 6, region p21.3, and mutation screening revealed a novel 6-base in-frame duplication, in the TULP1 gene. CONCLUSIONS: Mutation in the TULP1 gene is a rare cause of LCA/EORD, with only 14 mutations reported so far. The observed intrafamilial phenotypic variability could be attributed to disease progression or possibly modifier alleles. This study provides the first description of FAF and quantitative reflectivity profiles in TULP1-related retinopathy.

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In this issue...Newman Club, Conoco, Petroleum Engineering, Marriage Lectures, Magma, Manuel Galup, Butte Mines, Glen Welch, Mountain View Church

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Since the 1960s, there has been growing awareness regarding the issue of domestic violence as a form of violence against women, which has been largely influenced by the work of feminist activist and scholars in North America and Europe (Dobash and Dobash 1992). Other terms have been used to describe the same phenomenon, including domestic abuse, spousal abuse, wife battering, marital violence, intimate partner violence. Though there is no doubt that this problem has existed for much more than five decades, the tendency to label it as ‘private matters’ or ‘marital disagreements’ has obscured the reality of women living with abuse in their home. At a general level, domestic violence can be defined as the means used by a man in order to assert his control and domination over his intimate partner, whether they are married or not (Mullender 1996). It can involve incidents of physical and sexual violence, as well as verbal, psychological and financial abuse. Though some of its manifestations may be associated with particular cultural or religious groups – e.g. forced marriage and honour killing in South-Asian communities – domestic violence affects women from all classes and backgrounds.

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Background: Life partnerships other than marriage are rarely studied in childhood cancer survivors (CCS). We aimed (1) to describe life partnership and marriage in CCS and compare them to life partnerships in siblings and the general population; and (2) to identify socio-demographic and cancer-related factors associated with life partnership and marriage. Methods: As part of the Swiss Childhood Cancer Survivor Study (SCCSS), a questionnaire was sent to all CCS (aged 20–40 years) registered in the Swiss Childhood Cancer Registry (SCCR), aged <16 years at diagnosis, who had survived ≥5 years. The proportion with life partner or married was compared between CSS and siblings and participants in the Swiss Health Survey (SHS). Multivariable logistic regression was used to identify factors associated with life partnership or marriage. Results: We included 1,096 CCS of the SCCSS, 500 siblings and 5,593 participants of the SHS. Fewer CCS (47%) than siblings (61%, P < 0.001) had life partners, and fewer CCS were married (16%) than among the SHS population (26%, P > 0.001). Older (OR = 1.14, P < 0.001) and female CCS (OR = 1.85, <0.001) were more likely to have life partners. CCS who had undergone radiotherapy, bone marrow transplants (global PTreatment = 0.018) or who had a CNS diagnosis (global PDiagnosis < 0.001) were less likely to have life partners. Conclusion: CCS are less likely to have life partners than their peers. Most CCS with a life partner were not married. Future research should focus on the effect of these disparities on the quality of life of CCS.

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As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD). A mutation in a novel, tissue-specific, paired-like homeodomain transcription factor, termed Prophet of Pit-1 (PROP1), has been identified as causing the Ames dwarf (df) mouse phenotype, and thereafter, different PROP1 gene alterations have been found in humans with CPHD. We report on the follow-up of two consanguineous families (n = 12), with five subjects affected with CPHD (three males and two females) caused by the same nucleotide C to T transition, resulting in the substitution of Arg-->Cys in PROP1 at codon 120. Importantly, there is a variability of phenotype, even among patients with the same mutation. The age at diagnosis was dependent on the severity of symptoms, ranging from 9 months to 8 yr. Although in one patient TSH deficiency was the first symptom of the disorder, all patients became symptomatic by exhibiting severe growth retardation and failure to thrive, which was mainly caused by GH deficiency (n = 4). The secretion of the pituitary-derived hormones (GH, PRL, TSH, LH, and FSH) declined gradually with age, following a different pattern in each individual; therefore, the deficiencies developed over a variable period of time. All of the subjects entered puberty spontaneously, and the two females also experienced menarche and periods before a replacement therapy was necessary.

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Deficiency of coagulation factor XIII (FXIII) belongs to the rare bleeding disorders and its incidence is higher in populations with consanguineous marriages. The aims of this study were to characterize patients and relatives from seven families with suspected FXIII deficiency from Pakistan and to identify the underlying mutations. As a first indicator of FXIII deficiency, a 5M urea clot solubility test was used. Plasma FXIII A- and B-subunit antigen levels were determined by ELISA. FXIII activity was measured with an incorporation assay. Sequencing of all exons and intron/exon boundaries of F13A was performed, and a novel splice site defect was confirmed by RT-PCR analysis. Genetic analysis revealed six different mutations in the F13A gene. Two splice site mutations were detected, a novel c.1460+1G>A mutation in the first nucleotide of intron 11 and a previously reported c.2045G>A mutation in the last nucleotide of exon 14. Neither of them was expressed at protein level. A novel nonsense mutation in exon 4, c.567T>A, p.Cys188X, was identified, leading in homozygous form to severe FXIII deficiency. Two novel missense mutations were found in exons 8 and 9, c.1040C>A, p.Ala346Asp and c.1126T>C, p.Trp375Arg, and a previously reported missense mutation in exon 10, c.1241C>T, p.Ser413Leu. All patients homozygous for these missense mutations presented with severe FXIII deficiency. We have analysed a cohort of 27 individuals and reported four novel mutations leading to congenital FXIII deficiency.

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There is growing support for the theory that an interaction between the immune and reproductive/endocrine systems underlies the pathogenesis of autoimmune rheumatic diseases. Most of the recent evidence derives from studies of sex hormones and pregnancy in women with systemic lupus. Other than an ameliorative effect of pregnancy, little is known about reproductive factors in relation to rheumatoid arthritis. To elucidate the relationship, a population-based retrospective study was undertaken. Included were 378 female residents of Olmsted County, Minnesota diagnosed with rheumatoid arthritis between 1950 and 1982 (cases) and 325 arthritis-free, married female controls matched to the 324 married cases on birth-year, age at first marriage, and duration of Olmsted County residency. Information of reproductive factors was extracted from the medical records system maintained by the Mayo Clinic.^ Cases had lower fertility rates compared with the female population of Minnesota (rate ratio = 0.86, 95% confidence interval (CI)= 0.80-0.92). Fertility was significantly reduced even prior to the onset of rheumatoid factor positive arthritis. Restricting the comparison to married Olmsted County residents did not alter the results. Further adjustments for time not at risk of conception using survival analysis and proportional hazards modeling only intensified the fertility reduction in the married cases compared with controls. Nulligravidity was more common among cases than controls (odds ratio = 3.16, CI = 1.61-6.20). Independent of fertility, pregnancy had a protective effect against rheumatoid arthritis (odds ratio = 0.31, CI = 0.11-0.89), which was dramatically reversed in the 12 months postpartum (odds ratio = 4.67, CI = 1.50-14.47). Cases were younger at menopause than controls (p $<$ 0.01).^ Small but statistically insignificant associations were observed between rheumatoid arthritis and the following factors: increased frequency of complaints to a physician of infertility; increased frequency of spontaneous abortion, premature birth, and congenital malformations following arthritis onset; and increased prevalence of menopause at arthritis onset. Cases did not differ from controls on age at menarche, duration of pregnancy, or birth weight.^ The findings provide further support for the involvement of the reproductive/endocrine systems in the pathogenesis of autoimmune rheumatic disease. The search for biological mechanisms should be intensified. ^

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BACKGROUND P450 aromatase (CYP19A1) is essential for the biosynthesis of estrogens from androgen precursors. Mutations in the coding region of CYP19A1 lead to autosomal recessive aromatase deficiency. To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels. During infancy, girls often have ovarian cysts and thereafter fail to enter puberty showing signs of variable degree of androgen excess. Moreover, impact on growth, skeletal maturation and other metabolic parameters is seen in both sexes. OBJECTIVE AND HYPOTHESIS We found a novel homozygous CYP19A1 mutation in a 46,XX girl who was born at term to consanguineous parents. Although the mother did not virilize during pregnancy, the baby was found to have a complex genital anomaly at birth (enlarged genital tubercle, fusion of labioscrotal folds) with elevated androgens at birth, normalizing thereafter. Presence of 46,XX karyotype and female internal genital organs (uterus, vagina) together with biochemical findings and follow-up showing regression of clitoral hypertrophy, as well as elevated FSH suggested aromatase deficiency. Interestingly, her older brother presented with mild hypospadias and bilateral cryptorchidism and was found to carry the same homozygous CYP19A1 mutation. To confirm the clinical diagnosis, genetic, functional and computational studies were performed. METHODS AND RESULTS Genetic analysis revealed a homozygous R192H mutation in the CYP19A1 gene. This novel mutation was characterized for its enzymatic activity (Km, Vmax) in a cell model and found to have markedly reduced catalytic activity when compared to wild-type aromatase; thus explaining the phenotype. Computational studies suggest that R192H disrupts the substrate access channel in CYP19A1 that may affect binding of substrates and exit of catalytic products. CONCLUSION R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy.

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The awakening of national consciousness went hand in hand in Bohemia with an anxiety about national disappearance. In this context, the recourse to Pan-Slavism was for the Czechs a way to encourage themselves through the idea of belonging to a great Slavic world, while the Slavic Congress organized in Prague in 1848 was an attempt to realize this ideal. The Congress was a failure from the political point of view, but it did have some socio-cultural repercussions: notably, it served as a pretext for the advancement of women's issues in Bohemia. It is indeed in the wake of the Congress that Honorata z Wiśniowskich Zapová, a Polish women settled in Prague after her marriage to a Czech intellectual, founded, under the guise of collaboration between all Slavic women, the first women's association, as well as a (very short-lived) Czech-Polish institute, where Czech, as well as Polish girls, could get a quality education in their mother tongue. Honorata was undoubtedly the source of the polonophilia wind that seemed to blow over the Czech emancipation movement in the second half of the nineteenth century. In particular, Karolina Světlá showed in her Memoirs a great recognition for Honorata's efforts in matters of emancipation and education, and explicitly took up the challenge launched by the latter in founding another women's association and in inaugurating a school for underprivileged girls. But the tribute Světlá paid to Honorata is even more evident in her literary work, where Poland and the Polish woman (who often wears Honorata's features) play a significant role (see for example her short novel Sisters or her story A Few Days in the Life of a Prague Dandy). Světlá was probably the Czech feminist writer who, in her activities and in her work, relied most strongly on the Polish woman as a model for the Czech woman. However, she wasn't alone. In general, it was a characteristic of the Czech feminist movement of the second half of the nineteenth century to have recourse to the Polish woman and to Poland as a landmark for comparison and as a goal to be achieved.

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Despite the increase in divorces after a long relationship, this trend remains a neglected research topic. The present contribution seeks to identify patterns of psychological adaptation to divorce after a long-term marriage. Data from a questionnaire study with 308 persons aged 45–65 years, who divorced after having been married for an average of 25 years, are presented. Exploratory latent profile analysis with various well-being outcomes revealed five groups: one with average adapted, one with resilients, and three small groups with seriously affected individuals. Discriminant variables between the groups were personality, time since separation, a new relationship, and financial situation. Age, gender, and length of marriage played a marginal role; satisfaction with the former marriage and initiator status were not relevant.

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As is well know, the long-lasting influence in Poland of Hoffmanowa’s conservative pedagogical treatise « Keepsake of a Good Mother » (1819) was criticized by more progressive Polish women writers of the 19th century, such as Narcyza Żmichowska and Eliza Orzeszkowa. But the unexpected success of that book in other Slav countries later in the 19th century, especially in Bohemia, is less well known. Honorata z Wiśniowskich Zapová (1825-1856), a member of the Galician Polish szlachta who moved to Prague after her marriage in 1841 to the Czech writer K. V. Zap, has been recently exhumed as a Czech writer by Czech and Polish literary criticism: apart from her essays in Czech journals on her native country, much emphasis has been laid on the value of her most important work, Nezabudky, dar našim pannám (Forget-me-not: A Gift to Our Young Ladies, published in 1859), which was the first book of pedagogy dedicated to the instruction of young women in Bohemia. In her preface to this book, Zapová mentions Hoffmanowa as being one of her many sources of inspiration. Wishing to know more about what exactly Zapová owes to Hoffmanowa, in this article I compare Hoffmanowa’s book of pedagogy with Zapová’s. I am astonished to discover that Zapová’s book is in fact an almost literal translation from Polish to Czech of „Keepsake of a Good Mother” – in other words, that it is a plagiarism of Hoffmanowa’s book. The main question I ask here is : why did no one until now, either in 19th-century criticism or in our contemporary criticism, mention this literary fraud before?

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BACKGROUND Treatment of patients with paediatric acute lymphoblastic leukaemia has evolved such that the risk of late effects in survivors treated in accordance with contemporary protocols could be different from that noted in those treated decades ago. We aimed to estimate the risk of late effects in children with standard-risk acute lymphoblastic leukaemia treated with contemporary protocols. METHODS We used data from similarly treated members of the Childhood Cancer Survivor Study cohort. The Childhood Cancer Survivor Study is a multicentre, North American study of 5-year survivors of childhood cancer diagnosed between 1970 and 1986. We included cohort members if they were aged 1·0-9·9 years at the time of diagnosis of acute lymphoblastic leukaemia and had received treatment consistent with contemporary standard-risk protocols for acute lymphoblastic leukaemia. We calculated mortality rates and standardised mortality ratios, stratified by sex and survival time, after diagnosis of acute lymphoblastic leukaemia. We calculated standardised incidence ratios and absolute excess risk for subsequent neoplasms with age-specific, sex-specific, and calendar-year-specific rates from the Surveillance, Epidemiology and End Results Program. Outcomes were compared with a sibling cohort and the general US population. FINDINGS We included 556 (13%) of 4329 cohort members treated for acute lymphoblastic leukaemia. Median follow-up of the survivors from 5 years after diagnosis was 18·4 years (range 0·0-33·0). 28 (5%) of 556 participants had died (standardised mortality ratio 3·5, 95% CI 2·3-5·0). 16 (57%) deaths were due to causes other than recurrence of acute lymphoblastic leukaemia. Six (1%) survivors developed a subsequent malignant neoplasm (standardised incidence ratio 2·6, 95% CI 1·0-5·7). 107 participants (95% CI 81-193) in each group would need to be followed-up for 1 year to observe one extra chronic health disorder in the survivor group compared with the sibling group. 415 participants (376-939) in each group would need to be followed-up for 1 year to observe one extra severe, life-threatening, or fatal disorder in the group of survivors. Survivors did not differ from siblings in their educational attainment, rate of marriage, or independent living. INTERPRETATION The prevalence of adverse long-term outcomes in children treated for standard risk acute lymphoblastic leukaemia according to contemporary protocols is low, but regular care from a knowledgeable primary-care practitioner is warranted. FUNDING National Cancer Institute, American Lebanese-Syrian Associated Charities, Swiss Cancer Research.