Débora Gusmão Melo

Amostragem em pesquisas qualitativas: proposta de procedimentos para constatar saturação teórica

A qualitative studys methodological transparency is considered a key factor for achieving its reliability and should be guaranteed by the researchers. Closing the sampling process by saturation is a common approach, but it is rarely made explicit in research reports. Qualitative researchers also commonly experience technical difficulties in objectively identifying saturation. This article proposes a method to organize sample closing by saturation, with a sequence of eight procedural steps for treating and analyzing data collected through open or semi-structured interviews or focus groups. The article aims to help researchers objectively explain how and when saturation occurred and to allow their readers to know how this process occurred.

Relato de experiência: o uso de simulações no processo de ensino-aprendizagem em medicina

Este trabalho relata a experiencia, construida ao longo de dois anos, com o uso de estacoes de simulacao da pratica profissional no processo de ensino-aprendizagem do curso de graduacao em Medicina da Universidade Federal de Sao Carlos. Seu referencial pedagogico esta ancorado na concepcao construtivista da aprendizagem e parte da premissa de que aprender nao e reproduzir a realidade, mas ser capaz de elaborar uma representacao pessoal sobre esta e seus conteudos. Assim, a partir da vivencia de situacoes simuladas, os estudantes sao estimulados a ressignificar seus conhecimentos construindo novos saberes. Na Unidade Educacional Estacoes de Simulacao da Pratica Profissional, o estudante se defronta com pacientes simulados e tem a oportunidade de aprender fazendo, errando e aprendendo com os proprios erros. Ao refletir sobre o erro, constroi seu aprendizado por meio da identificacao de lacunas de conhecimento e fundamenta cognitivamente suas capacidades. Professores acompanham o desenvolvimento dos estudantes, atuando ora como avaliadores, ora como facilitadores, ora como consultores. Esta estrategia pedagogica pode ser um instrumento poderoso para o desenvolvimento de competencia na area clinica.

Confiabilidade da Declaração de Nascido Vivo como fonte de informação sobre os defeitos congênitos no Município de São Carlos, São Paulo, Brasil

The reliability of the information on congenital defects listed in birth certificates of the Live Birth Information System (SINASC) in the City of Sao Carlos, Sao Paulo, Brazil, was evaluated. A descriptive study that reviewed all 15,249 birth certificates from 2003 to 2007 compared the data with information from medical records and death certificates. Errors in accuracy and precision, mainly related to the description of the anomaly when it was transcribed from medical records to the birth certificates, in addition to coding and the input to SINASC, diminished the reliability of the birth certificates as a source of information on congenital defects. The results suggested that the involvement of the Municipal Health Department is essential to improve SINASC, because this is the location of the coding and input system, and training of the professionals who fill out the birth certificates. With guidance on the importance and function of the birth certificates, SINASC can become an excellent monitoring and surveillance system for congenital defects.

Quality of Life in Adults with Neurofibromatosis 1 in Brazil

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients’ lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting of two stages, involving thirteen adult patients with NF1. The first stage was developed using a quantitative methodology, namely the WHOQOL-100 questionnaire; responses for the 13 patients were compared to a matched control group. The second stage comprised clinical-qualitative research whereby participants took part in a semi-structured interview; these data were analyzed using the categorical thematic analysis technique. There were no statistically significant differences in the questionnaire domains between the NF1 patients and the control subjects. Eighteen main themes were extracted from the interviews, showing interference of the NF1 visibility principally in psychological aspects and social relationships. Patients mentioned curiosity about NF1 and confusion about the distinctions between NF1 and contagious diseases, which lead to prejudice. They were concerned about the future and how the disease would develop in themselves and their offspring, and emphasized difficulties acquiring proper healthcare. These findings may help in planning healthcare for Brazilian NF1 patients and improving their quality of life.

A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, of which Frontonasal Dysplasia is the most frequently encountered manifestation; in most cases the etiology remains unknown. We identified a parent to child transmission of a 6.2 Mb interstitial deletion of chromosome region 2q36.1q36.3 by array-CGH and confirmed by FISH and microsatellite analysis. The patient and her mother both presented an MFDH phenotype although the phenotype in the mother was much milder than her daughter. Inspection of haplotype segregation within the family of 2q36.1 region suggests that the deletion arose on a chromosome derived from the maternal grandfather. Evidences based on FISH, microsatellite and array-CGH analysis point to a high frequency mosaicism for presence of a deleted region 2q36 occurring in blood of the mother. The frequency of mosaicism in other tissues could not be determined. We here suggest that the milder phenotype observed in the probands mother can be explained by the mosaic state of the deletion. This most likely arose by an early embryonic deletion in the maternal embryo resulting in both gonadal and somatic mosaicism of two cell lines, with and without the deleted chromosome. The occurrence of gonadal mosaicism increases the recurrence risk significantly and is often either underestimated or not even taken into account in genetic counseling where new mutation is suspected.

Ambulatório de genética médica na Apae: experiência no ensino médico de graduação

This paper relates an educational experience, whose goal was to offer community-integrated qualification in the field of medical genetics to students of the Barao de Maua Medical School, Ribeirao Preto, State of Sao Paulo, Brazil. For this purpose, a medical genetics clinic was established in 2005 at the Associacao de Pais e Amigos dos Excepcionais - Apae (Association of Parents and Friends of Handicapped Children) as part of the course of Collective Health and Family and Community Medicine. Since then, the sixth year medical students have evaluated 140 patients, establishing their degree of intellectual disability, the etiology of the mental deficiency, and offered genetic counseling to the families under the guidance of their teachers. The diversification of the learning-teaching scenario brought the students closer to the patients and to the reality of the community. Moreover, the students could assimilate some theoretical bases of medical genetics by experiencing its implications in the clinical practice, turning the learning experience significant. The authors hope that this experience will contribute to qualify doctors better prepared in medical genetics and collective health and ready for working in an integrated and integrative manner with the community.

Neonatal screening program for hemoglobinopathies in the city of São Carlos, state of São Paulo, Brazil: analysis of a series of cases

Resumo Objetivo Fazer uma analise do programa de triagem neonatal de hemoglobinopatias no municipio de Sao Carlos, Sao Paulo, Brasil, por meio da investigacao de serie de casos cujo resultado do teste de rastreio foi alterado. Objetivou‐se conhecer as informacoes a respeito da triagem neonatal recebidas pelas maes na maternidade e na atencao primaria a saude, alem das informacoes relacionadas a orientacao genetica. Metodos Estudo descritivo, no qual participaram 119 maes cujos filhos apresentaram teste de triagem de hemoglobinopatia alterado, o que correspondeu a 73% das criancas nascidas entre 2010 e 2011 com resultado de triagem neonatal para hemoglobinopatia anormal. As maes responderam um questionario que avaliou informacoes recebidas na maternidade e na atencao primaria a saude, alem de aspectos relacionados a orientacao genetica. Foi feita estatistica descritiva dos dados. Resultados Das 119 maes participantes, 69 (58%) tinham filhos com traco falciforme, 22 (18,5%) traco C, 18 (15,1%) traco alfatalassemico e 10 (8,4%) resultado inconclusivo. Na maternidade, 118 maes (99,2%) receberam informacao sobre onde ir e 115 (96,6%) foram orientadas sobre o momento correto para coleta do teste. Somente quatro maes (3,4%) foram informadas sobre quais doencas seriam investigadas e os riscos de nao fazer o rastreio. Das 119 maes participantes, 17 (14,3%) reconheceram a diferenca entre traco e doenca e 42 (35,3%) consideraram que um teste alterado poderia ter implicacoes para futuras gestacoes. Em 70 casos (58,8%), o medico da crianca nao foi informado sobre o resultado da triagem. Conclusoes O programa de triagem neonatal necessita de aperfeicoamento. Nos dois cenarios investigados, os profissionais de saude carecem de treinamento para orientar maes e familias.OBJECTIVE: To analyze the neonatal screening program for hemoglobinopathies in São Carlos, Southeast Brazil, by investigating a series of cases in which the screening test was abnormal. More specifically, it was aimed to know the information regarding the neonatal screening received by mothers at the hospital and at primary health care, in addition to information related to genetic counseling. METHODS: A descriptive study that enrolled 119 mothers, accounting for 73% of all children born between 2010 and 2011 with abnormal results of neonatal screening for hemoglobinopathies. The mothers completed a questionnaire that assessed the information received at hospital and primary health care, and issues related to genetic counseling. Descriptive statistics was performed. RESULTS: Of the 119 participating mothers, 69 (58%) had children with sickle cell trait, 22 (18.5%) with hemoglobin C trait, 18 (15.1%) with alpha thalassemia trait and, in 10 cases (8.4%), the result was inconclusive. At the hospital, 118 mothers (99.2%) received information about where to go to collect the test and 115 (96.6%) were informed about the correct time to collect the test. Only 4 mothers (3.4%) were informed about which diseases are investigated and the risks of not performing the screening. Seventeen mothers (14.3%) recognized the difference between trait and disease, and 42 (35.3%) considered that a positive screening test could have implications for future pregnancies. In 70 cases (58.8%), the childs physician was not informed about the screening test results. CONCLUSIONS: The neonatal screening program needs further improvement. In both scenarios investigated, health professionals demonstrated a lack of training in providing information to mothers and families.

Internal carotid artery dissection in a patient with Ehlers-Danlos syndrome type IV: diagnosis and management

Ehlers-Danlos syndrome (EDS) type IV, also known as vascular EDS, is an inherited connective tissue disorder with an estimated prevalence of 1/100,000 to 1/250,000. In EDS type IV, vascular complications may affect all anatomical areas, with a preference for large- and medium-sized arteries. Dissections of the vertebral and carotid arteries in their extra- and intra-cranial segments are typical. The authors report the case of a patient with EDS type IV for whom the diagnosis was established based on clinical signs and who developed internal carotid artery dissection at the age of 44 years. In the absence of a specific treatment for EDS type IV, medical interventions should focus on symptomatic relief, prophylactic measures, and genetic counseling. Invasive imaging techniques are contraindicated, and a conservative approach to vascular complications is usually recommended.

Políticas públicas de saúde para deficientes intelectuais no Brasil: uma revisão integrativa

This study presents an integrative review of the scientific literature and federal legislation on public health policies for intellectually disabled in Brazil. Nine articles, published in the PubMed, Scopus, Virtual Health Library and Web of Science databases between 2002 and 2012, were selected. Based on the references of these studies, 6 other articles were identified, totaling 15 studies in the review. Forty-one federal laws produced between 2002 and 2012 were identified. The documents were analyzed and categorized according to the main themes of socioeconomic conditions, violence, mental health, ethics, health needs, health promotion and prevention. From the scientific standpoint, non-specific discussions were observed where intellectual disability was examined with other types of handicaps or concomitantly with other Latin American countries. From the legal standpoint, although laws related to health have been located, there is a lack of studies that address the effectiveness and level of implementation of the proposed policies. The increase in research in this area is a demand of the disabled population itself, and will reveal their specific health needs, and will also support issues such as prevention, promotion, diagnosis and treatment.This study presents an integrative review of the scientific literature and federal legislation on public health policies for intellectually disabled in Brazil. Nine articles, published in the PubMed, Scopus, Virtual Health Library and Web of Science databases between 2002 and 2012, were selected. Based on the references of these studies, 6 other articles were identified, totaling 15 studies in the review. Forty-one federal laws produced between 2002 and 2012 were identified. The documents were analyzed and categorized according to the main themes of socioeconomic conditions, violence, mental health, ethics, health needs, health promotion and prevention. From the scientific standpoint, non-specific discussions were observed where intellectual disability was examined with other types of handicaps or concomitantly with other Latin American countries. From the legal standpoint, although laws related to health have been located, there is a lack of studies that address the effectiveness and level of implementation of the proposed policies. The increase in research in this area is a demand of the disabled population itself, and will reveal their specific health needs, and will also support issues such as prevention, promotion, diagnosis and treatment.

Possíveis novos determinantes da qualidade de vida de pacientes com câncer de tireoide tratado: um estudo qualitativo.

The aim of this study was to develop a qualitative approach of determinant factors of the quality of life of treated patients with papillary thyroid carcinoma. Sixteen in-depth interviews were conducted with individuals 18 to 45 years old regarding their disease representations and experiences, followed by statements content analysis. The results show issues already provided in structured questionnaires about quality of life, although others were only partially assumed in these surveys (management of the concept of disease etiology; the “forced” patient introduction into the medical conceptual universe; the fear of the prognosis and positive changes in lifestyle). The results interpretation were benefited from recently developed theoretical elaborations: the anxieties related to illness experience seem to be configured as a “modern risk”, in the context of a “risk society”. The development of structured questionnaires on quality of life requires frequent qualitative studies to capture changes in subjective aspects of the construct, given the dynamic changes of historical, cultural and psychological meanings of the health disease process, constantly influenced by technological innovations and continuing epidemiological interpretations.