Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Background: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). Methods: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49-0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. Results: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6-0.68). Conclusions: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations. Copyright (C) 2011 S. Karger AG, Basel

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred Brazilian pedigree with 26 subjects affected by prelingual deafness. Given the extensive consanguinity found in this pedigree, the most probable pattern of inheritance is autosomal recessive. However, our linkage and mutational analysis revealed, instead of an expected homozygous mutation in a single gene, two different mutant alleles and a possible third undetected mutant allele in the MYO15A gene (DFNB3 locus), as well as evidence for other causes for deafness in the same pedigree. Among the 26 affected subjects, 15 were homozygous for the novel c.10573delA mutation in the MYO15A gene, 5 were compound heterozygous for the mutation c.10573delA and the novel deletion c.9957_9960delTGAC and one inherited only a single c.10573delA mutant allele, while the other one could not be identified. Given the extensive consanguinity of the pedigree, there might be at least one more deafness locus segregating to explain the condition in some of the subjects whose deafness is not clearly associated with MYO15A mutations, although overlooked environmental causes could not be ruled out. Our findings illustrate a high level of etiological heterogeneity for deafness in the family and highlight some of the pitfalls of genetic analysis of large genes in extended pedigrees, when homozygosity for a single mutant allele is expected.

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of "deficiencies" (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders.

Wives of pathological gamblers: personality traits, depressive symptoms and social adjustment

Objective: Wives of pathological gamblers tend to endure long marriages despite financial and emotional burden. Difficulties in social adjustment, personality psychopathology, and comorbidity with psychiatric disorders are pointed as reasons for remaining on such overwhelming relationships. The goal was to examine the social adjustment, personality and negative emotionality of wives of pathological gamblers. Method: The sample consisted of 25 wives of pathological gamblers, mean age 40.6, SD = 9.1 from a Gambling Outpatient Unit and at GAM-ANON, and 25 wives of non-gamblers, mean age 40.8, SD = 9.1, who answered advertisements placed at the Universidade de São Paulo hospital and medical school complex. They were selected in order to approximately match demographic characteristics of the wives of pathological gamblers. Subjects were assessed by the Social Adjustment Scale, Temperament and Character Inventory, Beck Depression Inventory and State-Trait Anxiety Inventory. Results: Three variables remained in the final Multiple Logistic Regression model, wives of pathological gamblers presented greater dissatisfaction with their marital bond, and higher scores on Reward Dependence and Persistence temperament factors. Both, Wives of pathological gamblers and wives of non-gamblers presented well-structured character factors excluding personality disorders. Conclusion: This personality profile may explain wives of pathological gamblers emotional resilience and their marriage longevity. Co-dependence and other labels previously used to describe them may work as a double edged sword, legitimating wives of pathological gamblers problems, while stigmatizing them as inapt and needy.

Casamento contemporâneo: revisão de literatura acerca da opção por não ter filhos

Em meio às diversas transformações sofridas pelo casamento e pela família ao longo da história, várias configurações familiares convivem na contemporaneidade: nuclear, monoparental, homoparental, recomposta, entre outras possibilidades. Nesse contexto, aumenta, em vários países, e mais recentemente no Brasil, o número de casais que escolhem não ter filhos. O objetivo deste trabalho foi realizar uma revisão bibliográfica sobre o tema, incluindo publicações nacionais e internacionais. A busca foi feita em bases de dados (Web of Science, PsycINFO, Medline, SciELO, Lilacs, Psicodoc, BVS-Psi, Dedalus), e foram levantados artigos completos em periódicos indexados e resumos de teses e dissertações produzidas nos últimos dez anos. Os resultados coletados abordam diversas facetas do fenômeno da escolha contemporânea por não ter filhos: motivações declaradas, associação entre esse tipo de escolha e a situação profissional, relação com fatores de história de vida e família de origem, satisfação de vida e conjugal, preconceito e estereótipos negativos.

Opiniões e atitudes em relação à sexualidade: pesquisa de âmbito nacional, Brasil 2005

OBJETIVO: Descrever opiniões e atitudes sobre sexualidade da população urbana brasileira. MÉTODOS: Inquérito de base populacional realizado em 2005, em amostra representativa de 5.040 entrevistados. Realizou-se análise das atitudes diante da iniciação e educação sexual de adolescentes, considerando sexo, idade, escolaridade, renda, estado civil, religião, cor, região geográfica e opiniões sobre fidelidade, homossexualidade e masturbação. Os resultados foram contrastados com pesquisa similar realizada em 1998, sempre que possível. RESULTADOS: A maioria dos entrevistados escolheu como significado para o sexo a alternativa: "sexo é uma prova de amor". Como em 1998, a maioria manifestou-se pela iniciação sexual dos jovens depois do casamento (63,9% para iniciação feminina vs. 52,4% para a masculina), com diferenças entre praticantes das diversas religiões. A educação escolar de adolescentes sobre o uso do preservativo foi apoiada por 97% dos entrevistados, de todos os grupos sociais. Foi elevada a proporção de brasileiros que concordaram com o acesso ao preservativo nos serviços de saúde (95%) e na escola (83,6%). A fidelidade permaneceu um valor quase unânime e aumentou, em 2005, a proporção dos favoráveis à iniciação sexual depois do casamento, assim como a aceitação da masturbação e da homossexualidade, em relação à pesquisa de 1998. As gerações mais novas tendem a ser mais tolerantes e igualitárias. CONCLUSÕES: Como observado em outros países, confirma-se a dificuldade de estabelecer uma dimensão única que explique a regulação da vida sexual ("liberal" vs "conservador"). Sugere-se que a normatividade relativa à atividade sexual deva ser compreendidas à luz da cultura e organização social da sexualidade ao nível local, auscultadas pelos programas de DST/Aids. A opinião favorável ao acesso livre ao preservativo na escola contrasta com resultados mais lentos no âmbito do combate ao estigma e à discriminação das minorias homossexuais. A formulação de políticas laicas dedicadas à sexualidade permitirá o diálogo entre diferentes perspectivas.

Religiosidade, juventude e sexualidade: entre a autonomia e a rigidez

Este artigo descreve como jovens religiosos e autoridades religiosas das respectivas comunidades compreendem a sexualidade, considerando suas experiências pessoais e como membros de comunidades religiosas. A análise pretende contribuir para que políticas públicas dedicadas à promoção da saúde sexual da juventude considerem a religiosidade no contexto de um Estado laico e da promoção do direito à prevenção. Foram realizadas 26 entrevistas abertas e semidirigidas em diferentes comunidades da região metropolitana da cidade de São Paulo (comunidade Católica, de Umbanda, do Candomblé e de diferentes denominações Evangélicas) sobre iniciação sexual, casamento, gravidez, contracepção e prevenção das DSTs/aids, homossexualidade, aborto e direitos humanos. Observou-se como jovens e autoridades religiosas convivem com a tensão entre tradição e modernidade e os distintos discursos sobre a sexualidade. Como sujeitos religiosos (do discurso religioso) e sujeitos sexuais (de discursos sobre sexualidade), devem ser incorporados pelos programas como sujeitos de direito nos termos de sua religiosidade.

Sexuality and quality of life of breast cancer patients post mastectomy

Aim: To evaluate the sexual functioning of breast cancer patients post mastectomy and its association with their quality of life, the personal characteristics of women and their partners, breast reconstruction, cancer staging and adjuvant therapies. Methods: A cross-sectional study was carried out in a University hospital located in the SouthEast of Brazil. A total of 100 women were included in the study. The parameters evaluated were sexual functioning, which was assessed based on the Sexual Quotient Female Version (SQ-F), quality of life (QoL), evaluated by the Medical Outcomes Study 36-item Short Form (SF-36), cancer staging, breast reconstruction, adjuvant therapies and the personal characteristics of patients (age, years of study and years of marriage) and their partners (age, years of study). Results: The majority (40.48%) of women had an unfavorable to regular SQ-F score. A significant positive correlation (p < 0.05) was found between the SQ-F score and years of education (p = 0.03), and the following SF-36 domains: functional capacity (p = 0.03), vitality (p = 0.06), emotional limitations (p = 0.00) and mental health (p = 0.03). A significant negative correlation was found between SQ-F score and the age of the partners (p = 0.03). SQ-F mean value was significantly higher (p = 0.04) among women who underwent breast reconstruction. Conclusions: Women with low educational level, who have older partners, and who did not have a breast reconstruction should receive special attention with respect to their sexuality, and the effects of mastectomy on the sexuality of patients should be assessed. Oncology nurses are best qualified to recognize issues related to sexuality and quality of life, and can offer specific and meaningful support for breast cancer patients. (C) 2010 Elsevier Ltd. All rights reserved.

Impact of Childhood Cancer on Parents` Relationships: An Integrative Review

Purpose: The diagnosis of cancer and the treatment decisions associated with it may cause uncertainty, stress, and anxiety among parents. Emotional tensions can affect parents` relationships during the trajectory of the child`s cancer illness. We conducted an integrative review to examine the evidence related to the effects of childhood cancer on parents` relationships. Methods: An integrative literature search of studies published between 1997 and 2009 was conducted in the Cumulative Index to Nursing and Allied Health Literature (CINAHL), Psychology Information (PsycINFO), PubMed, Scopus, CUIDEN, and Latin American and Caribbean Health Science Literature (LILACS). The key words used were neoplasms, child, marriage, spouses, family relations, and nursing. Articles were reviewed if the (a) topic addressed parents` relationships during childhood cancer; (b) participants were mothers, fathers, or both; (c) design was either qualitative or quantitative; (d) language was English, Portuguese, or Spanish; (e) date of publication was between January 1997 and October 2009; and (f) abstract was available. Results: Fourteen articles met the search criteria and were reviewed using Cooper`s framework for integrative reviews. Four themes emerged: (a) changes in the parents` relationship during the trajectory of the child`s illness; (b) difficulty in communication between couples; (c) gender differences in parental stress and coping; and (d) role changes. Conclusions and Implications: Findings revealed positive and negative changes in parents` relationships, communication, stress, and roles. Nurses need to assess the impact of cancer diagnosis and treatments on parent relationships, offer support and encouragement, and allow expression of feelings. Future research is needed to develop and test interventions that increase parents` potentials and strengthen relationships during the challenging trajectory of their children`s cancer and treatment. Clinical Relevance: The multiple sources of stress and uncertainty associated with a child`s cancer diagnosis and treatment affect parents` relationships. Difficulties in communication appear frequently in parents` relationship. Our findings may guide healthcare professionals in identifying parents at risk for developing conflicts, communication problems, and lack of alignment between parents that could interfere with providing optimal care for their child with cancer. Healthcare professionals may promote dialogue and encourage parents to express their feelings, seek mutual support, and establish a partnership in dealing with the child`s illness.

The pareto-stability concept is a natural solution concept for discrete matching markets with indifferences

In a decentralized setting the game-theoretical predictions are that only strong blockings are allowed to rupture the structure of a matching. This paper argues that, under indifferences, also weak blockings should be considered when these blockings come from the grand coalition. This solution concept requires stability plus Pareto optimality. A characterization of the set of Pareto-stable matchings for the roommate and the marriage models is provided in terms of individually rational matchings whose blocking pairs, if any, are formed with unmatched agents. These matchings always exist and give an economic intuition on how blocking can be done by non-trading agents, so that the transactions need not be undone as agents reach the set of stable matchings. Some properties of the Pareto-stable matchings shared by the Marriage and Roommate models are obtained.

Spatial aspects of trade liberalization in Colombia: A general equilibrium approach

This paper offers some preliminary steps in the marriage of some of the theoretical foundations of new economic geography with spatial computable general equilibrium models. Modelling the spatial economy of Colombia using the traditional assumptions of computable general equilibrium (CGE) models makes little sense when one territorial unit, Bogota, accounts for over one quarter of GDP and where transportation costs are high and accessibility low compared to European or North American standards. Hence, handling market imperfections becomes imperative as does the need to address internal spatial issues from the perspective of Colombia`s increasing involvement with external markets. The paper builds on the Centro de Estudios de Economia Regional (CEER) model, a spatial CGE model of the Colombian economy; non-constant returns and non-iceberg transportation costs are introduced and some simulation exercises carried out. The results confirm the asymmetric impacts that trade liberalization has on a spatial economy in which one region, Bogota, is able to more fully exploit scale economies vis--vis the rest of Colombia. The analysis also reveals the importance of different hypotheses on factor mobility and the role of price effects to better understand the consequences of trade opening in a developing economy.

The stability of the equilibrium outcomes in the admission games induced by stable matching rules

A stable matching rule is used as the outcome function for the Admission game where colleges behave straightforwardly and the students` strategies are given by their preferences over the colleges. We show that the college-optimal stable matching rule implements the set of stable matchings via the Nash equilibrium (NE) concept. For any other stable matching rule the strategic behavior of the students may lead to outcomes that are not stable under the true preferences. We then introduce uncertainty about the matching selected and prove that the natural solution concept is that of NE in the strong sense. A general result shows that the random stable matching rule, as well as any stable matching rule, implements the set of stable matchings via NE in the strong sense. Precise answers are given to the strategic questions raised.

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome

Wolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco. We have observed in case 1 a homozygous C > T replacement at base pair c.1192 at exon 7, generating a stop codon at position 398 (Gln398Stop). Both of his parents were found to be heterozygous for the mutation. We detected in both parents of case 2, a deceased Moroccan girl, a duplication of base pair c.851A at exon 5 (c.851dupA) leading to a frameshift and a stop codon at position 285 (p.Pro285AlafsX3). Both cases 1 and 2 had neonatal diabetes mellitus, multiple epiphyseal dysplasia, and growth delay, and presented episodes of acute hepatic dysfunction. Case 1 presented central hypothyroidism, developmental delay, and mild mental retardation. Case 2 presented a fatal episode of acute renal failure. The clinical phenotype associated with the syndrome can be variable, but a combination of infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, and hepatic and/or renal dysfunction is the mainstay of diagnosis.

A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly

Background: Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, have been demonstrated to be the underlying molecular alteration in individuals with different congenital cardiac disorders, notably the Holt-Oram syndrome. Methods: Six members from a two-generation family from a consanguineous couple, which had atrial septal defects associated with postaxial hexodactyly in all extremities were clinically assessed and submitted to TBX5 mutational analysis performed by direct sequencing. Results: We detected a new TBX5 missense mutation (V263M) in all four individuals studied with cardiac abnormalities. The genotype phenotype correlations in light of unusual features are extensively discussed, as well as the possible significance of these atypical findings. Conclusions: These new data extend our clinical and molecular knowledge of TBX5 gene mutations and also raise interesting questions about the phenotype heterogeneity regarding these gene alterations. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

Three-year-old child with meroacrania - Neurological signs

Neurological findings in a three-year-old child with meroacrania provide new insights into how the nervous system develops and functions in the absence of superior levels of control from the time of origin. The girl is the first child of a non-consanguineous white Brazilian couple, born at term, weighing 2650 g and measuring 44 cm in length. Upon examination at 43 months, she had quadriplegia, global hypotonia with occasional body hypertonia in a decorticate posture, hyperreflexia, ankle clonus, and extensor plantar response. This case allowed us to verify that, in the absence of upper structures and subcortical nuclei, there are clear signs that suggest corticospinal primacy in motor functions without a substitute pathway. Sound orientation responses suggest the independence of the vestibular-acoustic-ocular system, and manifestations of responsiveness to the environment raise questions about consciousness. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.