RESUMO
Argentina's population numbers about 40 million, with main genetic contributions from Europeans, Amerindians and, to a much lower extent, West Africans. There is a traditional health care system publicly funded coexisting with a social security system and a for-profit private sector. Clinical genetic services include about 40 units in public hospitals dealing mainly with pediatric genetics. The most conspicuous public policies in genetics are newborn screening and folic acid fortification of flour. Genetics/genomics research is funded by state agencies and is conducted in several institutes and centers. Clinical genetics research occurs in public hospitals and deals primarily with congenital syndromes. While there are no defined government policies in the public application of genomics, there have been initiatives to improve the provision of clinical genetic services countrywide. The main hurdles for applying genetics in health care are a fragmented, inefficient, and inequitable health system, facing large unmet needs in infectious diseases, malnutrition, prenatal and newborn care, deficient education in genetics, and lack of explicit public policies in genetic health care and governmental regulations. Overcoming these obstacles requires increase in government funding and improvement of the efficiency of the public health system and its genetic services. Further, there must be concerted efforts to ensure equitable access to the latter. Interactions should be promoted between clinical geneticists, public health officers, primary health care personnel and parent/patient organizations on the use of genetics/genomics in public health, as well as genetics education of health professionals, the public and decision makers, and development of the capacity of the state to regulate properly the application of genetic/genomic technologies to public health.
Assuntos
Doença/genética , Serviços em Genética/estatística & dados numéricos , Genômica , Planejamento em Saúde , Programas de Rastreamento , Saúde Pública/educação , Saúde Pública/tendências , Argentina , Atenção à Saúde , Política de Saúde , HumanosRESUMO
During the military dictatorship that ruled Argentina between 1976 and 1983, the security forces engaged in well-planned repression that included the abduction, torture, and disappearance of thousands of dissidents. Repression spared neither children nor pregnant women. Approximately 220 babies and children of the disappeared victims were abducted and kept mostly by families with connections with the military. After the restoration of democracy, attempts to find and identify the missing children were made, with the goal of restoring their personal and familial identities and returning them to their surviving relatives. The Association of Grandmothers of Plaza de Mayo and a number of geneticists who developed and applied methods of genetic identification to this human rights cause were instrumental in this quest. Initial use of histocompatibility (HLA) typing for genetic identification was later followed by nuclear DNA typing and mitochondrial DNA sequencing. Of 56 children found and identified, 30 were returned to their legitimate families, 13 remained with the families who had adopted them in good faith, 6 are still the subject of custody litigation in the courts, and 7 were found dead. Psychological and ethical guidelines protecting the best interests of the children were followed in all proceedings.
Assuntos
Proteção da Criança/legislação & jurisprudência , Crime , Genética Médica , Teste de Histocompatibilidade , Argentina , Pré-Escolar , HumanosRESUMO
Between 1976 and 1983 a brutal military dictatorship governed Argentina. The most basic human rights were severely violated and the method of forced disappearances of approximately 30,000 political dissidents was instituted. In this process, about 300 babies and children of the disappeared victims were also abducted by the military and given to childless families linked to the security forces. Women whose children and grandchildren had disappeared organized themselves as Grandmothers of Plaza de Mayo to search for their missing loved ones. This search was aided by human geneticists from different parts of the world who provided the scientific basis to establish the genetic identification through "grandpaternity testing," and by mental health professionals who provided the psychological theory supporting restitution of appropriated children to their legitimate families. Thus far, close to 50 children have been located, identified and restituted.
Assuntos
Defesa da Criança e do Adolescente , Criança Abandonada , Técnicas Genéticas , Política , Adoção , Argentina , Criança , Pré-Escolar , Feminino , Genética Médica , Direitos Humanos , Humanos , Lactente , Paternidade , ViolênciaRESUMO
The IVIC syndrome is an autosomal dominant condition affecting mainly the upper limbs. It is described from 19 living members of one family of mostly Caucasoid descent; it came to Venezuela from the Canary Islands 140 years ago. The new mutation appeared six generations ago. It has complete penetrance and wide expressivity for a radial ray defect which may vary from an almost normal thumb to a severely malformed upper limb. When present, the thumb has a long/slender metacarpal and a short distal phalanx, reflected in a typical metacarpophalangeal (MP) pattern profile. Anthropometry reveals delayed growth in the forearms, clavicles, and cranium during adolescence, and permanently in the spine; the maturation of the face, tibiae, and feet is normal. The radial carpal bones are always affected, some being still hypoplastic at advanced ages. Constant palmar dermatoglyphic anomalies are a high a-b ridge count, a distally placed or absent t triradius, and an increased frequency of patterns in the second interdigital area. Extraocular muscles are involved almost always, producing strabismus. Hearing is bilaterally impaired due to a mixed congenital loss, either total or partial. Mild thrombocytopenia and leukocytosis are present before the age of 50 years. There is neither associated ectodermal dysplasia nor heart involvement [except for occasional mild, incomplete right bundle branch block (IRBBB)]; imperforate anus occurs in about 10% of affected persons. The possible pathogenetic relationship to the thalidomide embryopathy and to the Holt-Oram syndrome, among others, is discussed.