Suchergebnisse

Preimplantation genetic diagnosis (PGD) was originally developed to diagnose embryo-related genetic abnormalities for couples who present a high risk of a specific inherited disorder. Because this technology involves embryo selection, the medical, bioethical, and legal implications of the technique have been debated, particularly when it is used to select features that are not related to serious diseases. Although several initiatives have attempted to achieve regulatory harmonization, the diversity of healthcare services available and the presence of cultural differences have hampered attempts to achieve this goal. Thus, in different countries, the provision of PGD and regulatory frameworks reflect the perceptions of scientific groups, legislators, and society regarding this technology. In Brazil, several texts have been analyzed by the National Congress to regulate the use of assisted reproduction technologies. Legislative debates, however, are not conclusive, and limited information has been published on how PGD is specifically regulated. The country requires the development of new regulatory standards to ensure adequate access to this technology and to guarantee its safe practice. This study examined official documents published on PGD regulation in Brazil and demonstrated how little direct oversight of PGD currently exists. It provides relevant information to encourage reflection on a particular regulation model in a Brazilian context, and should serve as part of the basis to enable further reform of the clinical practice of PGD in the country. ; Fundação Oswaldo Cruz da Criança e do Adolescente Fernandes Figueira Instituto Nacional de Saúde da Mulher ; Universidade Federal de São Paulo (UNIFESP) Departamento de Ginecologia ; UNIFESP, Depto. de Ginecologia ; SciELO

Rio de Janeiro is a state with close to 15 million inhabitants and approximately 250,000 births per year. The state counts nine clinical genetic units in public institutions, providing for 9,400 outpatient consultations yearly, which is insufficient to cover the estimated needs. Laboratory tests such as cytogenetics, inborn errors of metabolism and molecular studies are available on a limited basis. Newborn screening in the public health system is being performed for phenylketonuria, congenital hypothyroidism and sickle cell disease. In the state there are also special treatment programs for osteogenesis imperfecta and Gaucher's disease, subsidized by the Brazilian Ministry of Health. Presently, efforts of medical geneticists are concentrated on highlighting the practical relevance of clinical genetics, and the need to integrate the specialty into the public health system in a functional network of genetic services.

Brazil is a continent-size country with around 190 million inhabitants, the largest and most populous in South America. It is classified as a developing upper middle-income country and having considerable growth, although inequality remains significant. The health system is mixed; most of the population is served by the public Unified Health System ("Sistema Único de Saúde", SUS) and there is a thriving private health sector. The country faces multiple obstacles to improve and expand genetic services, due to its wide territory, sociocultural inequalities and major basic health problems. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions, mainly in tertiary care university hospitals. Demand for genetic services has increased and congenital malformations has been the second cause of infant mortality since 2000, but such data did not determine government policies or initiatives for the prevention and management of this group of problems until 2004, when the process for introducing medical genetics as a health policy by the Ministry of Health began. Details on the policy and an overview on congenital and genetic diseases, the state and availability of genetic services, genetic testing, medical genetics laboratories, training of human resources in medical genetics, newborn screening program, genetics networks, special care facilities, as well as educational, social and support programs for disabled people, research priorities in genetics and genomics, patient organizations and relevant issues regarding the challenge of implementing a comprehensive care policy in clinical genetics in this vast and diverse country are presented.

ABSTRACTWe described herein the oral and craniofacial features of a 7‐year‐old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross‐bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally. This patient showed the importance of early diagnosis and HSCT therapy in attenuating the clinical and radiographic oral and craniofacial manifestations of the MPS II patient.