Assisted reproductive technology success rates /

Vol. for 1995 in 3 pts.: v. 1 Eastern United States ; v. 2 Central United States ; v. 3 Western United States.

A deletion mutation in GDF9 in sisters with spontaneous DZ twins

A loss of function mutation in growth differentiation factor 9 (GDF9) in sheep causes increased ovulation rate and infertility in a dosage-sensitive manner. Spontaneous dizygotic (DZ) twinning in the human is under genetic control and women with a history of DZ twinning have an increased incidence of multiple follicle growth and multiple ovulation. We sequenced the GDF9 coding region in DNA samples from 20 women with DZ twins and identified a four-base pair deletion in GDF9 in two sisters with twins from one family. We screened a further 429 families and did not find the loss of function mutation in any other families. We genotyped eight single nucleotide polymorphisms across the GDF9 locus in 379 families with two sisters who have both given birth to spontaneous DZ twins (1527 individuals) and 226 triad families with mothers of twins and their parents (723 individuals). Using case control analysis and the transmission disequilibrium test we found no evidence for association between common variants in GDF9 and twinning in the families. We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9.

Response to Orr and Siegler - collective intentionality and procreative desires: the permissible view on consent to posthumous conception

Orr and Siegler have recently defended a restrictive view concerning posthumous sperm retrieval and conception, which would limit insemination to those cases where the deceased man has provided explicit consent for such a procedure. The restrictive view dominates current law and practice. A permissible view, in contrast, would allow insemination and conception in all but those cases where the posthumous procedure has been explicitly refused, or where there is no reasonable evidence that the deceased person desired children. I describe a phenomenology of procreative desires which supports the permissible view, and which is compatible with requirements concerning the interests of the decedent, concepts of medical infertility, and the welfare of the future child. The account illustrates how our current obsession with individual rights and autonomy can be self-defeating and repressive.

Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease

Kennedy's disease (spinobulbar muscular atrophy) is an X-linked form of motor neuron disease affecting adult males carrying a CAG trinucleotide repeat expansion within the androgen receptor gene. While expression of Kennedy's disease is thought to be confined to males carrying the causative mutation, subclinical manifestations have been reported in a few female carriers of the disease. The reasons that females are protected from the disease are not clear, especially given that all other diseases caused by CAG expansions display dominant expression. In the current study, we report the identification of a heterozygote female carrying the Kennedy's disease mutation who was clinically diagnosed with motor neuron disease. We describe analysis of CAG repeat number in this individual as well as 33 relatives within the pedigree, including two male carriers of the Kennedy's mutation. The female heterozygote carried one expanded allele of the androgen receptor gene with CAG repeats numbering in the Kennedy's disease range (44 CAGs), with the normal allele numbering in the upper-normal range (28 CAGs). The subject has two sons, one of whom carries the mutant allele of the gene and has been clinically diagnosed with Kennedy's disease, whilst the other son carries the second allele of the gene with CAGs numbering in the upper normal range and displays a normal phenotype. This coexistence of motor neuron disease and the presence of one expanded allele and one allele at the upper limit of the normal range may be a coincidence. However, we hypothesize that the expression of the Kennedy's disease mutation combined with a second allele with a large but normal CAG repeat sequence may have contributed to the motor neuron degeneration displayed in the heterozygote female and discuss the possible reasons for phenotypic expression in particular individuals.

Assisted reproductive technologies and equity of access issues

In Australia and other countries, certain groups of women have traditionally been denied access to assisted reproductive technologies (ARTs). These typically are single heterosexual women, lesbians, poor women, and those whose ability to rear children is questioned, particularly women with certain disabilities or who are older. The arguments used to justify selection of women for ARTs are most often based on issues such as scarcity of resources, and absence of infertility ( in lesbians and single women), or on social concerns: that it goes against nature''; particular women might not make good mothers; unconventional families are not socially acceptable; or that children of older mothers might be orphaned at an early age. The social, medical, legal, and ethical reasoning that has traditionally promoted this lack of equity in access to ARTs, and whether the criteria used for client deselection are ethically appropriate in any particular case, are explored by this review. In addition, the issues of distribution and just gatekeeping'' practices associated with these sensitive medical services are examined.

KRAS variation and risk of endometriosis

Endometriosis is a common gynaecological disease with symptoms of pelvic pain and infertility which affects 7-10% of women in their reproductive years. Activation of an oncogenic allele of Kirsten rat sarcoma viral oncogene homologue (KRAS) in the reproductive tract of mice resulted in the development of endometriosis. We hypothesized that variation in KRAS may influence risk of endometriosis in humans. Thirty tagSNPs spanning a region of 60.7 kb across the KRAS locus were genotyped using iPLEX chemistry on a MALDI-TOF MassARRAY platform in 959 endometriosis cases and 959 unrelated controls, and data were analysed for association with endometriosis. Genotypes were obtained for most individuals with a mean completion rate of 99.1%. We identified six haplotype blocks across the KRAS locus in our sample. There were no significant differences between cases and controls in the frequencies of individual single-nucleotide polymorphisms (SNPs) or haplotypes. We also developed a rapid method to screen for 11 common KRAS and BRAF mutations on the Sequenom MassARRAY system. The assay detected all mutations previously identified by direct sequencing in a panel of positive controls. No germline variants for KRAS or BRAF were detected. Our results demonstrate that any risk of endometriosis in women because of common variation in KRAS must be very small.

ESTRESSE, DEPRESSÃO, SATISFAÇÃO SEXUAL, VIVÊNCIAS EMOCIONAIS E QUALIDADE DE VIDA EM PACIENTES DE AMBULATÓRIOS DE REPRODUÇÃO HUMANA

Este estudo teve como objetivos avaliar a Qualidade de Vida (QV), sintomas depressivos, estresse, satisfação sexual e vivências emocionais em pacientes que apresentam infertilidade. Participaram deste estudo 500 pessoas (mulheres e homens), com idade igual ou maior a 18 anos, pacientes de um ambulatório de reprodução humana localizado no Grande ABC Paulista. O estudo utilizou instrumentos de avaliação autoaplicáveis: WHOQOL-Bref, BDI-II, ISQ, ICQ, ISS e questionário sócio-demográfico. A caracterização da amostra estudada demostrou alto nível escolar (62,4pc), boa condição econômica (80,2pc, idade superior a 30 anos (82,8pc) e a maioria apresenta infertilidade primária (73,2pc). Quanto à QV, níveis de depressão e estresse os homens apresentam melhores resultados quando comparados às mulheres. No que ser refere aos níveis de satisfação sexual 56,6% dos participantes descrevem ter satisfação sexual, mas 45,4% afirmam ter insatisfação sexual e não houve diferença entre os gêneros. As análises dos dados mostraram que é maior o número de mulheres do que o de homens que procuram atendimento para infertilidade (64,8pc). Pôde-se comprovar que além das dificuldades provenientes da infertilidade, o tratamento, também, impacta sobre a vida dessas pessoas. Foram diversos participantes que descreveram significativas mudanças (42,8pc), dos quais apontaram em maioria absoluta (92,6pc) uma piora no estado de humor devido ao tratamento. Como também é alto o índice de pessoas que descrevem sintomas de depressão (38,8pc) e estresse (31,4pc) acima da média da população geral. Ao considerar as especificidades da qualidade de vida averiguou-se um maior impacto no domínio psicológico dos pacientes (15,20 pontos) comparado ao físico (15,68 pontos). Estes resultados ressaltam a importância do atendimento psicológico para as pessoas em programas de reprodução humana.

MANEJO TÉCNICO DO ATENDIMENTO PSICOLÓGICO EM AMBULATÓRIO DE REPRODUÇÃO HUMANA ASSISTIDA

O presente estudo teve por objetivos: descrever o manejo técnico do atendimento psicológico, ilustrado pelo caso de uma paciente infértil de um ambulatório de reprodução humana assistida; descrever as vicissitudes no campo analítico nestes atendimentos; e sistematizar esse manejo técnico em intervenções ambulatoriais em que se privilegia a compreensão das relações transferenciais. O instrumento utilizado para a coleta de dados foram os próprios atendimentos, ou entrevistas psicológicas, baseadas no método clínico de abordagem psicanalítica. A análise e a discussão dos resultados se basearam na apresentação de um único caso, que ilustrou a técnica que se objetivou sistematizar e descrever. É apresentado o caso da Sra. S., uma mulher de 41 anos, com parceiro em união estável há cinco anos, que realizava tratamento de infertilidade no ambulatório de reprodução humana. A paciente foi atendida pela psicóloga no próprio ambulatório durante o período da segunda tentativa de gravidez. Foram realizados efetivamente três (3) atendimentos e, no período de dois meses, a paciente não compareceu a três (3) sessões. Foram criadas cinco (5) categorias de análise: 1) Escuta; 2) Configuração de Queixa Psicológica; 3) Manejo dos Conflitos; 4) Manejo da Transferência; e 5) Enquadre. Estas categorias representaram elementos do atendimento. A divisão do atendimento em categorias teve propósito didático, no entanto, a sistematização do manejo deu-se a partir do desenvolvimento destas categorias, mas não numa ordem pré-estabelecida. A Escuta refere-se à capacidade do psicoterapeuta compreender a relação estabelecida com o paciente, assim como os elementos metapsicológicos depositados no campo, a partir de seu quadro de referência teórico-metodológico. A Configuração de Queixa Psicológica refere-se à aproximação do sofrimento psíquico e dos conflitos que subjazem à queixa orgânica ou manifesta. O Manejo dos Conflitos representa o modo como são interpretados e devolvidos a um paciente os conteúdos trazidos para a sessão. Ressalta-se, no manejo dos conflitos, a eleição de um foco de trabalho em que se privilegia a situação atual da vida do paciente relacionada especificamente à sua queixa. O Manejo da Transferência refere-se à forma como os aspectos transferenciais são compreendidos e devolvidos ao paciente. A neurose e psicose de transferência são evitadas e o trabalho é preferencialmente desenvolvido a partir da interpretação de situações extra-transferenciais. Por fim, o Enquadre engloba todos os aspectos formais e dinâmicos que constituem o campo emocional sobre o qual se trabalha. Este tipo de atendimento pode ser situado entre a entrevista psicológica e o atendimento em psicoterapia breve com objetivos e tempo limitados, variando de acordo com a qualidade adaptativa do paciente e sua motivação para o atendimento psicológico. Concluímos que este modelo de atendimento ambulatorial engloba aspectos tanto diagnósticos quanto de intervenção e que o papel do psicólogo neste contexto é auxiliar o paciente atendido a compreender sua queixa em seus aspectos latentes e manifestos, além de propiciar um espaço de escuta em que os conteúdos trazidos podem ser pensados e compreendidos

EFICÁCIA ADAPTATIVA DE MULHERES, COM HISTÓRIA DE ABORTAMENTO, PACIENTES DE UM AMBULATÓRIO DE REPRODUÇÃO HUMANA

O objetivo principal desta pesquisa foi investigar eficácia adaptativa de mulheres que vivenciaram abortamento e freqüentam um Ambulatório de Reprodução Humana. Os objetivos específicos foram: avaliar a eficácia adaptativa; identificar as repercussões psicológicas destes abortamentos. O instrumento utilizado foi a entrevista clínica preventiva- EDAO (Escala Diagnóstica Adaptativa Operacionalizada). Participaram do estudo 10 mulheres que freqüentavam um Ambulatório especializado em Reprodução Assistida. Os resultados deste trabalho revelaram que o abortamento teve uma repercussão importante no mundo interno e externo das mulheres que participaram desta pesquisa. Os abortamentos provocados e espontâneos são relatados com intensa angústia, tristeza, culpa e sentimentos de inferioridade. No caso do abortamento espontâneo predomina o medo de perder novamente, e no caso de aborto provocado, predominam sentimentos de culpa. As pacientes, de forma geral, apresentam intensa angústia e expectativa em relação ao tratamento; porém a experiência do tratamento para engravidar, somado à experiência anterior de abortamento, intensificou as angústias dessas mulheres. A psicoterapia breve operacionalizada pode auxiliar a paciente a lidar de forma mais adequada com os conflitos vividos no tratamento. E no caso específico deste estudo, auxiliar também a elaboração das perdas anteriores. Este estudo trouxe questionamentos relevantes sobre a vivência emocional de mulheres que buscam tratamento para engravidar e já sofreram abortamento espontâneo ou provocado. A realização de outros estudos é fundamental para maior compreensão do tema.(AU)

EFICÁCIA ADAPTATIVA DE MULHERES E HOMENS INSERIDOS NUM PROGRAMA DE FERTILIZAÇÃO IN VITRO

Este estudo teve como objetivos: caracterizar uma amostra de pacientes inseridos num programa de fertilização in vitro; avaliar a eficácia adaptativa de homens e mulheres inseridos neste programa; analisar dois casos clínicos representativos da amostra, quanto aos micro e macro fatores indicadores de adaptação psicológica. Os dados foram coletados num Centro de Reprodução Humana, tendo sido selecionados 65 homens e 65 mulheres, num período de março a outubro de 2002 e caracterizados segundo dados sócio-econômico-culturais. Foram extraídos 57 pares, sendo 57 homens e 57 mulheres diagnosticados pela Escala Diagnóstica Adaptativa Operacionalizada representando a maior concentração de casos com diagnóstico médico de mulheres inférteis e homens férteis, dos quais foram realizados os diagnósticos adaptativos. Depois, foram selecionados dois casos um homem e uma mulher, representativos deste grupo, que foram estudados em análise qualitativa, clínica, seguindo-se os pressupostos da teoria da adaptação. Os homens encontravam-se em faixa etária de 23 a 56 anos e as mulheres de 23 a 45 anos. Em relação ao diagnóstico, houve as seguintes concentrações: os homens (64,9 %) foram classificados no Grupo 2 Adaptação Ineficaz Leve e as mulheres (52,6 %) no Grupo 4 Adaptação Ineficaz Severa. Durante o diagnóstico, verificou-se que 20,2 % dos sujeitos estavam em crise, sendo 8,8 % dos homens e 31,6 % das mulheres. No estudo de caso representativo sendo H = Grupo 2 em condição adaptativa melhor do que a sua parceira que se encontrava no Grupo 4, verificou-se, que neste homem sua adequação nos setores era: Afetivo-Relacional - resposta pouco adequada; Produtividade - resposta adequada; Sócio-Cultural - resposta adequada, e Orgânico - resposta adequada. Sua parceira, entretanto, com diagnóstico do Grupo 4 Adaptação Ineficaz Severa sem crise, apresentou resposta pouquíssima adequada no setor Afetivo-Relacional, resposta pouco adequada no setor Produtividade, resposta pouco adequada no Sócio-Cultural e resposta pouco adequada no Orgânico. Concluímos que os homens desta amostra possuíam melhor eficácia adaptativa em relação às mulheres durante o processo de fertilização in vitro. Levantamos a necessidade de acompanhamento psicológico preventivo ante possível entrada em crise e de intervenções específicas para o momento de crise.

A snapshot of the lives of women with polycystic ovary syndrome:a photovoice investigation

Polycystic ovary syndrome affects 6  percent of women. Symptoms include hirsutism, acne, and infertility. This research explores the impact of polycystic ovary syndrome on women's lives using photovoice. Nine participants photographed objects related to their quality of life and made diary entries explaining each photograph. Three themes emerged from thematic analysis of the diaries: control (of symptoms and polycystic ovary syndrome controlling their lives), perception (of self, others, and their situation), and support (from relationships, health care systems, and education). These findings illuminate positive aspects of living with polycystic ovary syndrome and the role pets and social networking sites play in providing support for women with polycystic ovary syndrome.

The isolation and characterization of tescalcin, a novel gene differentially expressed in the mouse testis during the early stages of gonadal differentiation

Gonadal development is an ideal model to study organogenesis because a variety of developmental processes can be studied during the differentiation of the bipotential primordium into testis or ovary. To better understand this process, Representational Difference Analysis of cDNA was used to identify genes that are differentially expressed in mouse gonads at 13.5 days post-coitus. The analysis led to the identification of three testis specific genes and a sequence that was only expressed in the ovary. The male genes identified: renin, Col9a3, and a novel gene termed tescalcin had patterns of expression that suggested a role in testis determination. ^ Studies of the tescalcin gene revealed that it is organized into eight exons and seven introns. The gene was located at 64 cM in mouse chromosome 5, where it spans approximately 35 Kb. Three mRNA variants resulting from alternative splicing of intron 5 were identified in mouse tissues. Gel mobility shift assays demonstrated that Sp1 and Sp3 from Y-1, msc-1, and MIN-6 cells nuclear extracts bind the GC-boxes within the tescalcin proximal promoter. Bisulfite sequencing analysis of tescalcin CpG island revealed that it is differentially methylated in male and female mouse embryonic gonads, and that hypermethylation of this region represses expression of tescalcin in the β-TC3 cell line. ^ The major tescalcin mRNA encodes a protein with 214 amino acids that contains a consensus EF-hand Ca2+-binding domain and an N-myristoylation motif. The amino acid sequence of tescalcin is highly conserved among various species, and it showed the highest homology with calcineurin B homologous proteins 1 and 2, and calcineurin B. Western blot analysis using antibodies generated against the tescalcin protein confirmed its presence in specific mouse tissues and cell lines. Immunohistochemical analysis of mouse embryos confirmed the pattern of expression of tescalcin mRNA in fetal testis. Using pull-down assays, glyceraidehydes-3-phosphate dehydrogenase was identified as an interacting and potential functional partner of tescalcin. ^ The identification and characterization of tescalcin as a novel embryonic testicular marker will contribute to the elucidation of the genetic pathways involved in testis development and likely to the understanding of pathological conditions such as sex reversal and infertility. ^

Parâmetros bioquímicos e níveis de IgE total e específicas para aeroalérgenos em mulheres obesas com síndrome dos ovários policísticos

Introduction: Polycystic ovary syndrome (PCOS) whose classic features (menstrual irregularity of oligo/ amenorrhea type, chronic anovulation, infertility and hyperandrogenism clinical and/ or biochemical), is associated with aspects of metabolic syndrome (MS), as obesity and insulin resistance. The level of obesity determines different levels of inflammation, increasing cytokines participants of metabolic and endocrine functions, beyond modulate the immune response. Metabolic changes, added to the imbalance of sex hormones underlying irregular menstruation observed in (PCOS) can trigger allergic processes and elevation of total and specific IgE antibodies indicate that a sensitization process was started. Objective: To evaluate the influence of PCOS on biochemical parameters and levels of total and specific IgE to aeroallergens in obese women. Methods: After approval by the Committee of Ethics in Research, were recruited 80 volunteers with BMI ≥ 30 kg/m2 and age between 18 and 45 years. Among these, 40 with PCOS according to the Rotterdam criteria and 40 women without PCOS (control group). All participants were analysed with regard to anthropometric, clinical, gynecological parameters, interviewed using a questionnaire, and underwent blood sampling for realization of laboratory tests of clinical biochemistry: Total cholesterol, LDL-cholesterol, HDL- cholesterol, Triglycerides, Fasting glucose, Urea, Creatinine, Aspartate aminotransferase (AST), Alanine aminotransferase (ALT) and immunological: total and specific IgE to Dermatophagoides pteronyssinus, Blomia tropicalis, Dermatophagoides farinae and Dermatophagoides microceras.Statistical analysis was performed using SPSS 15.0 software through the chi-square tests, Fisher, Student t test and binary logistic regression, with significance level (p <0.05). Results: It was observed in the group of obese women with PCOS that 29 (72.5%) had menstrual cycle variable and 27 (67.5%) had difficulty getting pregnant. According to waist-hip ratio, higher average was also observed in obese PCOS (0.87). Blood level of HDL (36.9 mg/dL) and ALT (29.3 U/L) were above normal levels in obese women with PCOS, with statistically significant relationship. In the analysis of total and specific IgE to D. pteronyssinus high results were also prevalent in obese PCOS, with blood level (365,22 IU/mL) and (6.83 kU/L), respectively, also statistically significant. Conclusions: Observed predominance of cases with high levels of total IgE in the group of obese women with PCOS, 28 (70%) of the participants, whose mean blood concentration of the group was 365.22 IU/mL. In the analysis of Specific IgE between the groups, the allergen Dermatophagoides pteronyssinus showed greater dispersion and average the results of sensitization in the group of obese PCOS, whose mean blood concentration was 6.83 kU/l. Keywords: Obesity, Allergens and Polycystic Ovary Syndrome

Pitit se rìches malere [Children are the wealth of the poor]: The Influence of Gender and Power on Choice and Uptake of Long Acting Contraceptives

Background: Haiti has the highest maternal mortality rate in the Latin American and Caribbean region. Despite the fact that Haiti has received twice as much family planning assistance as any other country in the western hemisphere, the unmet need for contraception remains particularly high. Our hypothesis is that unsuccessful efforts of family planning programs may be related to a misconstrued understanding of the complex role of gender in relationships and community in Haiti. This manuscript is one of four parts of a study that intends to examine some of these issues with a particular focus on the influence of uptake and adherence to long acting contraceptive (LAC) methods.

Methods: We conducted a three-month community-based qualitative assessment through 20 in-depth interviews in Fondwa, Haiti. Participants were divided into 4 groups of five: female users, female non-users, men and key community stakeholders.

Results: Based on the qualitative interviews, we found that main barriers included lack of access to family planning education and services and concerns regarding side effects and health risks, especially related to menstrual disruption and fears of infertility. Women have a constant pressure to remain fertile and bear children, due not only to social but also economic needs. As relationships are conceived as means for economic provision, the likelihood of uptake of irreversible methods (vasectomy and tubal ligation) was restricted by loss of fertility. Consequently, the discourse of family planning, though self-recognized in their favor, assumes women can afford not to bear children. This assumption should be questioned given the complexities of the other social determinants at play, all which affect the reproductive decisions made by Haitians.

Conclusions: Overall, our study indicated awareness surrounding contraception in the Haitian Fondwa community. Combining the substantial impact of birth spacing with the elevated yet unmet need for contraceptives in the area, it is necessary to address the intricacies of gender issues in order to implement successful programing. In Haiti not being able to bear a child poses a threat to economic and social survival, possibly explaining a dimension of the low uptake of LACs in the region, even when made available. For this reason, we believe IUDs (Intrauterine Devices) provide a suitable alternative, allowing the couple to comprehend all of the factors involved in decision making, thus decreasing the imbalances of power and knowledge prior to considering an irreversible alternative.