Roberto Benedito de Paiva e Silva

A anemia falciforme como problema de Saúde Pública no Brasil

Sickle cell anemia is the most prevalent hereditary disease in Brazil. However, the Brazilian literature registers no investigations into the public health aspects of the disease. This present study investigates the way of life of 80 adult patients (49 women and 31 men) with a diagnosis of sicklecell anemia, at a blood center in Brazil. The late diagnosis of the disease was one of the most significant aspects observed in this group of patients. It was also observed that the dominant problem faced by adult patients with sickle cell anemia is of an economic nature, mainly due to lack of professional opportunities. However, patients can well undertake economic activities under adequate medical supervision, according to their own limitations and potentialities. The psychoterapeutic orientation was well accepted by patients regardless of sex. It is concluded that there exists need for the establishment of community programs for early diagnosis and medical, social and psychological orientation for sickle cell anemia patients in Brazil.

Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira

A triagem populacional de heterozigotos assintomaticos para fins de orientacao genetica e um procedimento bastante controvertido, por envolver o risco de rotulacao, discriminacao, estigmatizacao, perda de auto-estima e invasao de privacidade. Assim sendo, investigou-se no presente trabalho os efeitos da orientacao genetica fornecida a individuos diagnosticados como heterozigotos do gene da hemoglobina S (heterozigotos AS, portadores do traco falciforme) durante a triagem de doadores de sangue. Foram convidados por carta 92 doadores AS para receber orientacao genetica gratuita e individualizada, 66 dos quais (72%) aceitaram o convite. Cerca de 50% dos individuos trouxeram a parceira e/ou os filhos para investigacao laboratorial das hemoglobinopatias, identificando-se assim alguns casais de risco e algumas criancas com anemia hemolitica cronica. Seis meses apos o fornecimento da orientacao genetica, foi possivel avaliar por entrevista pessoal ou por carta-questionario 43 doadores AS (65%), constatando-se uma boa assimilacao das informacoes fornecidas. A orientacao genetica nao produziu mudancas significativas na vida da maioria dos individuos e os riscos teoricos da orientacao genetica nao aparecem de forma preocupante na casuistica examinada. Foram constatados de forma esporadica, no entanto, indicios de estigmatizacao, rotulacao, discriminacao, perda da auto-estima e invasao de privacidade.Population screening of asymptomatic heterozygotes for genetic guidance purposes is a very controversial procedure due to the risk of labeling, discrimination, stigmatization, loss of self-esteem, and invasion of privacy. Effects of genetic counseling supplied to blood donors with the sickle cell trait (AS heterozygotes) were investigated. Ninety-two AS donors were invited by letter to a free, individual orientation session; 66 of them (72%) accepted the invitation. Some 50% of the individuals brought their wives and children for examination, thus allowing identification of several at-risk couples (13%) and children with sickle cell anemia (5%). Six months afterwards 43 AS donors (65%) were reevaluated, whereby it was observed that the information had been well assimilated. The theoretical risks of genetic screening did not appear to be cause for concern in most of the cases examined. However, signs of stigma, labeling, discrimination, loss of self-esteem, and invasion of privacy were evidenced in a few cases.

Community Genetics: a new discipline and its application in Brazil

Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development of community genetics is necessary in Brazil. The implementation of such programs in our country, especially for hemoglobinopathies, has been recommended by the World Health Organization and other international organizations. Apart from the need for and appeal of community genetics programs, some aspects require serious review. This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy.

Hemoglobin screening: response of a Brazilian community to optional programs

The efficiency and the viability of three hemoglobin screening programs were investigated. They were offered on a voluntary basis to a Brazilian population and started with the analysis of blood donors, pregnant women and students. The hemoglobin screening was done through optional exams which included electrophoresis of hemoglobin and complementary hematological tests. A total of 13,670 people were tested over a period of 39 months and a total of 644 individuals with hereditary hemoglobin disorders were detected - 4. 7% of the samples examined. The programs showed satisfactory indicators of viability and efficiency, expressed by the significative proportion of exams performed among the probands and their relatives.

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency

The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46,XY individuals. It can lead to a wide range of phenotypic features, with variable hormonal profiles. We report four patients with the 46,XY karyotype and 17-β-HSD3 deficiency, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstenedione ratio < 0.8. In three of the patients, diagnosis was only determined due to the presence of signs of virilization at puberty. All patients had been raised as females, and female gender identity was maintained in all of them. Compound heterozygosis for c.277+2T>G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene, were identified in case 3. In addition, homozygosis for the missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln mutations were found upon HSD17B3 gene sequencing in cases 1, 2, and 4, respectively.

A Portaria MS n. ° 822/01 e a triagem neonatal das hemoglobinopatias

The government directive MS 822/01 of the Brazilian Ministry of Health, regulates neonatal screening of many metabolic disorders, including sickle cell diseases and other hemoglobinopathies. In the present paper the authors discuss various medical and ethical aspects of neonatal screening for the hemoglobinopathies, the genetic counseling as part of medical responsibilities, and the risks inherent to population programs, which must be known and prevented by the professionals committed to and working in the field of neonatal screening.

A percepção da doença em portadoras da síndrome de Turner

OBJECTIVE: To identify how patients with Turner syndrome perceive their condition. METHODS: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.OBJECTIVE To identify how patients with Turner syndrome perceive their condition. METHODS Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.

Implante Coclear em Crianças: A Visão dos Pais

The objective of this study was to analyze the point of view of parents in relation to the cochlear implant, their level of information concerning the implant, its risks and benefits, and their expectations towards their childrens future. Ten parents of deaf children candidate for the cochlear implant at Unicamps Clinical Hospital were interviewed. Based on a qualitative approach, a content analysis showed that the majority of parents seek the cure for deafness, and consequently, the acquisition of speech with the cochlear implant. For these families, the cochlear implant is seen both as the solution to their childrens deafness and as a path for a better future. It has been evidenced that during the acquisition of knowledge about the implant, parents experienced anxiety and anguish when faced with the risks and benefits of the procedure, and the need to choose between performing and not performing the cochlear implant.

Diagnóstico de baixa visão em crianças: sentimentos e compreensão de mães

A forma como a familia representa a deficiencia visual pode influenciar na sua adaptacao ao diagnostico de baixa visao do filho. Desta forma, objetivou-se estudar a relacao entre a representacao que as maes tem a respeito da baixa visao e a vivencia que tiveram perante o diagnostico. Para isso, foram realizadas entrevistas semi-estruturadas com 11 maes de criancas com baixa visao atendidas pelo Setor de Estimulacao Visual do Servico de Visao Subnormal Infantil (SVSNI) do Ambulatorio de Oftalmologia do Hospital de Clinicas da Universidade Estadual de Campinas (Unicamp). O estudo caracterizou-se como uma pesquisa qualitativa, tendo como referencial teorico a representacao social. Para a analise dos dados foi utilizada a tecnica de analise de conteudo, na qual se estabeleceram tres categorias tematicas: vivencia do diagnostico, estimulacao visual, representacao da baixa visao: a busca pela cura e expectativas quanto ao futuro. Na discussao dos dados ficou evidenciado o medo das maes de que o filho fique cego e a nao compreensao clara do que e a baixa visao, interpretando o diagnostico medico de acordo com a sua subjetividade. Constatou-se tambem, que existe uma relacao entre como a mae representa a baixa visao/cegueira e como consegue vivenciar o diagnostico do filho. A maioria das maes tem uma representacao negativa e nao aceitam a deficiencia visual do filho e tres maes demonstraram ter uma representacao positiva, mesmo admitindo as dificuldades inerentes a baixa visao. Percebe-se que e a representacao positiva que contribui para a adaptacao da mae a realidade do filho com baixa visao. Cabe ressaltar, a importância da maneira como o diagnostico e transmitido para as familias, sendo necessario que o medico leve em consideracao as condicoes culturais, economicas e emocionais dos pais, pois, na maioria das vezes, tais situacoes podem impedir a compreensao clara do diagnostico e criacao de expectativas reais em relacao ao futuro do filho. Abstract

Turner syndrome: the patients' view

OBJECTIVE: To identify how patients with Turner syndrome perceive their condition. METHODS: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.OBJECTIVE To identify how patients with Turner syndrome perceive their condition. METHODS Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.