RESUMO
Dissemination of knowledge in genetics to be applied in medicine has created a growing need for capacity building in health care workers. The CAPABILITY ARGENTINA outreach project protocol was designed as a model to introduce genetics in areas without genetic services. Our aim was for genetic health care to become part of primary care in an Argentine province lacking genetic services. The program was innovative as professionals from the referral center (Garrahan Hospital S.A.M.I.C.) traveled to remote areas to train professionals through problem-based education. A logical framework was designed for a local needs assessment. Teaching materials (Powerpoint presentations, printed syllabus, and CD) and a web page were developed. A demonstration project was carried out in the Province of Chaco, Argentina. A total of 485 health workers were trained. The number of consultations increased significantly in participating areas comparing before and after the training period. To support this increase, a complementary project was set up from a public hospital sponsored from within Argentina to build a cytogenetic laboratory in the capital of the Province of Chaco. The model was improved for reproduction in other areas in Argentina. CAPABILITY ARGENTINA is a capacity building model for training of primary care professionals in genetics that may be applied to other medical specialties. The outcomes of the programme have a direct impact on clinical practice.
Assuntos
Humanos , Masculino , Feminino , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/mortalidade , Atenção Primária à Saúde/tendências , Educação Médica Continuada , Genética Médica/educação , Genética Médica/tendências , Capacitação em Serviço , Mortalidade Infantil/tendências , Pessoal de Saúde/educação , ArgentinaRESUMO
Argentine population is highly heterogeneous for the cystic fibrosis (CF) transmembrane regulator (CFTR) gene mutations. The study of 14 more common mutations identified both mutated alleles in only 51% of patients. This study confirmed the diagnosis of cystic fibrosis in these patients and enabled the detection of asymptomatic carriers in their families. However, in the remaining patients the direct molecular assay did not provide the necessary information for genetic counselling. To establish the mutated allele transmission in the affected families, negative for the most common mutations, three microsatellites (IVS17bTA, IVS8CA and IVS17bCA) located in intronic regions of CFTR gene were studied. In the 40 CF families analyzed, different allelic variants were detected: 15 for IVS17bTA, 10 for IVS8CA and 4 for IVS17bCA. Polymorphism information content and heterozygosity were high, except for IVS17bCA. By the simultaneous analysis of the three microsatellites we could counsel 100% of the families. Ours results show that these microsatellites are an excellent group of markers for linkage studies in cystic fibrosis families of the Argentine population.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , DNA Satélite/genética , Alelos , Argentina , Fibrose Cística/diagnóstico , Feminino , Ligação Genética , Marcadores Genéticos , Haplótipos , Humanos , Masculino , Repetições de Microssatélites , MutaçãoRESUMO
Argentine population is highly heterogeneous for the cystic fibrosis (CF) transmembrane regulator (CFTR) gene mutations. The study of 14 more common mutations identified both mutated alleles in only 51
of patients. This study confirmed the diagnosis of cystic fibrosis in these patients and enabled the detection of asymptomatic carriers in their families. However, in the remaining patients the direct molecular assay did not provide the necessary information for genetic counselling. To establish the mutated allele transmission in the affected families, negative for the most common mutations, three microsatellites (IVS17bTA, IVS8CA and IVS17bCA) located in intronic regions of CFTR gene were studied. In the 40 CF families analyzed, different allelic variants were detected: 15 for IVS17bTA, 10 for IVS8CA and 4 for IVS17bCA. Polymorphism information content and heterozygosity were high, except for IVS17bCA. By the simultaneous analysis of the three microsatellites we could counsel 100
of the families. Ours results show that these microsatellites are an excellent group of markers for linkage studies in cystic fibrosis families of the Argentine population.
RESUMO
Se presentam 3 casos de sindrome de Meckel Este se hereda como autosomico recesivo e implica, por lo tanto, que luego de tener un hijo afectado el reisgo de otro afectado es del 25% en cada embarazo siguiente.Los signos tipicos del sindrome son: encefalocele, poliquistosis renal,polidactilia postaxial, aunque no necesariamente deban estar los tres presentes. Otras anomalias menos frecuentes que pueden asociarse son: onfalocele, microcefalia, microftalmia,labio leporino y paladar hendido, cardiopatia congenita y genitales ambiguos. Se recalca la importancia del diagnostico clinico y anatomopatologico de los afectados, para poder asesorar geneticamente a los padres, antes de un nuevo embarazo
Assuntos
Gravidez , Humanos , Feminino , Anormalidades Múltiplas , Doenças Fetais , Encefalocele , Aconselhamento Genético , RiscoRESUMO
Los casos de sindrome alcohol fetal (SAF) descriptos representan el 0,36% de ingresos de ninos en grave riesgo psicosocial registrados entre 1979 y 1982.Se presentan sus caracteristicas clinicas, el examen cromosomico y evolucion. El alcoholismo materno es causal de abandono condicionando carencias nutricionales y afectivas posteriores al nacimiento.Se considera una patologia completamente prevenible
Assuntos
Lactente , Humanos , Transtornos do Espectro Alcoólico FetalRESUMO
Se presentam 3 casos de sindrome de Meckel Este se hereda como autosomico recesivo e implica, por lo tanto, que luego de tener un hijo afectado el reisgo de otro afectado es del 25% en cada embarazo siguiente.Los signos tipicos del sindrome son: encefalocele, poliquistosis renal,polidactilia postaxial, aunque no necesariamente deban estar los tres presentes. Otras anomalias menos frecuentes que pueden asociarse son: onfalocele, microcefalia, microftalmia,labio leporino y paladar hendido, cardiopatia congenita y genitales ambiguos. Se recalca la importancia del diagnostico clinico y anatomopatologico de los afectados, para poder asesorar geneticamente a los padres, antes de un nuevo embarazo
Assuntos
Gravidez , Humanos , Feminino , Anormalidades Múltiplas , Encefalocele , Doenças Fetais , Aconselhamento Genético , RiscoRESUMO
Los casos de sindrome alcohol fetal (SAF) descriptos representan el 0,36% de ingresos de ninos en grave riesgo psicosocial registrados entre 1979 y 1982.Se presentan sus caracteristicas clinicas, el examen cromosomico y evolucion. El alcoholismo materno es causal de abandono condicionando carencias nutricionales y afectivas posteriores al nacimiento.Se considera una patologia completamente prevenible
Assuntos
Lactente , Humanos , Transtornos do Espectro Alcoólico FetalRESUMO
We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.
