RESUMEN
Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations. A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences. The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA. DNA samples from patients with and without a previous diagnosis were included. MLPA assays were performed according to manufacturer recommendations. Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected. Results were analyzed using the Gene Marker v1.6 and Sequencing Analysis v5.2 software. In the samples with a previous diagnosis (as identified by short tandem repeat-polymerase chain reaction analysis), MLPA confirmed in some samples the same deletion and detected in others a larger deleted fragment. This enabled the prediction of the expected male phenotype. One deletion and one duplication were detected in patients without previous diagnosis. In this study, we investigated the applicability of MLPA in our country. Our results showed a 100% confirmation of the deleted fragments detected by short tandem repeat segregation analysis. Moreover, in some cases, the MLPA assay was able to refine the breakpoints involved. In addition, MLPA identified deletions/duplications in samples without previous diagnosis. In comparison to the available diagnosis strategies in Argentina, MLPA is less time-consuming, and spans the complete coding region of DMD. The application of MLPA will improve the genetic diagnosis of DMD/Becker muscular dystrophy in our country.
Asunto(s)
Duplicación de Gen , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Eliminación de Secuencia , Argentina , Salud de la Familia , Femenino , Reordenamiento Génico , Humanos , Masculino , Técnicas de Amplificación de Ácido Nucleico/métodos , Programas InformáticosRESUMEN
Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations. A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences. The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA. DNA samples from patients with and without a previous diagnosis were included. MLPA assays were performed according to manufacturer recommendations. Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected. Results were analyzed using the Gene Marker v1.6 and Sequencing Analysis v5.2 software. In the samples with a previous diagnosis (as identified by short tandem repeat-polymerase chain reaction analysis), MLPA confirmed in some samples the same deletion and detected in others a larger deleted fragment. This enabled the prediction of the expected male phenotype. One deletion and one duplication were detected in patients without previous diagnosis. In this study, we investigated the applicability of MLPA in our country. Our results showed a 100% confirmation of the deleted fragments detected by short tandem repeat segregation analysis. Moreover, in some cases, the MLPA assay was able to refine the breakpoints involved. In addition, MLPA identified deletions/duplications in samples without previous diagnosis. In comparison to the available diagnosis strategies in Argentina, MLPA is less time-consuming, and spans the complete coding region of DMD. The application of MLPA will improve the genetic diagnosis of DMD/Becker muscular dystrophy in our country.
Asunto(s)
Humanos , Masculino , Femenino , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Duplicación de Gen , Eliminación de Secuencia , Argentina , Salud de la Familia , Reordenamiento Génico , Técnicas de Amplificación de Ácido Nucleico , Programas InformáticosRESUMEN
Bruners gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunners gland. (AU)
Asunto(s)
Persona de Mediana Edad , Humanos , Masculino , Glándulas Duodenales/patología , Glándulas Duodenales/cirugía , Hiperplasia/patología , Hiperplasia/cirugíaRESUMEN
Bruner's gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunner's gland.
Asunto(s)
Persona de Mediana Edad , Humanos , Masculino , Glándulas Duodenales/patología , Glándulas Duodenales/cirugía , HiperplasiaRESUMEN
La otomicosis es una enfermedad del Conducto Auditivo Externo (CAE) que con frecuencia se hace de difícil manejo como consecuencia de diferentes factores atribuibles al microorganismo y al paciente. El cerumen es un producto de las glándulas localizadas en la piel del CAE que tiene propiedades antimicóticas, bacteriostáticas y repelente de insectos. Bajo estas consideraciones se realiza la transposición de cerumen de personas sanas a otras con otomicosis de difícil manejo. Los resultados del cultivo antes de la transposición fueron Aspergillus (níger y flavus) 73.7 por ciento y Cándida (albicans y no albicans) 26.3 por ciento. Después de la colocación de cerumen de donador sano, se obtuvo mejoría total con 203 aplicaciones en un lapso de 1 a 3 meses.
Asunto(s)
Aspergillus , Cerumen , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/microbiologíaRESUMEN
Bruner's gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunner's gland.
Asunto(s)
Glándulas Duodenales/patología , Glándulas Duodenales/cirugía , Humanos , Hiperplasia/patología , Hiperplasia/cirugía , Masculino , Persona de Mediana EdadRESUMEN
Bruners gland hyperplasia (BGH) is an infrequent benign injury located on the first or second portion of the duodenum. We presented the case of a 59 year-old man with vomits, diarrhea, upper gastrointestinal bleeding intermittent and loss of weight in which was a nodule in the duodenum that corresponded to an hyperplasia nodular of Brunners gland.
RESUMEN
Se presentan cuatro casos de tratamiento con autovacuna en papilomatosis laríngea infantil. La preparación de la autovacuna se encuentra a nuestro alcance; como la respuesta y resultados han sido satisfactorios, se presenta este informe para ayudar a solucionar esta patología que a veces es mortal y de difícil manejo
Asunto(s)
Humanos , Niño , Neoplasias Laríngeas , Papiloma , VacunasRESUMEN
La enfermedad de Gorham, también conocida como enfermedad de desaparición ósea u osteolisis masiva, es considerada una patología rara de causa desconocida y pronostico impredecible, que se caracteriza histológicamente por la presencia de angiomas cavernosos óseos con fibrosis medular, que se traducen en absorción del hueso. Las modalidades de tratamiento utilizadas entre las que se incluyen radioterapia y cirugía, la mayoría de las veces resultan ineficaces para detener el proceso. Se hace la revisión de dos casos con localización en la cintura escapular que ilustran la historia natural de la enfermedad, uno de ellos fatal por el compromiso pulmonar con quilotorax
Asunto(s)
Humanos , Masculino , Femenino , Osteólisis Esencial/diagnóstico , Osteólisis Esencial/tratamiento farmacológico , Osteólisis EsencialRESUMEN
Tradicionalmente se ha puesto toda la atención en la corrección de los factores septales para resolver la patología de esta estructura; pero con base en el análisis de los casos de fracaso se pudo obtener una considerable responsabilidad en los elementos extraseptales como la bulla etmoidal, la apófisis unciforme o el cornete medio. Además se pone en tela de juicio el papel de los rayos x simples y se realiza una propuesta para el manejo quirúrgico de estas alteraciones, con resultados del 100 por ciento de éxito, siendo igual la técnica en niños y en adultos, lo que va en contra del mito de cirugías conservadoras en niños. Es imprescindible tomar tomografías computarizadas para un diagnóstico y manejo integral
Asunto(s)
Senos Paranasales , Procedimientos Quirúrgicos Otorrinolaringológicos/métodos , Procedimientos Quirúrgicos Otorrinolaringológicos/tendenciasRESUMEN
Desde 1930, año en que se hizo la primer descripción por Schmidt ( 1) hasta nuestros dias, solo se han reportado un poco más de 300 casos en la literatura indexada. Este caso en particular se detecto en el preoperatorio y las imagenes diagosticas tanto de Scanner como de Resonancia son una verdadera rareza tanto para Otorrinolaringologos, como para Radiologos. En la revision literaria se hace enfasis en los aspectos clinicos, el diagostico y el manejo quirurgico actual
Asunto(s)
NeurilemomaRESUMEN
Laboratory experiments were conducted at different salinities (35, 26 and 17/1000) to determine accumulation and depuration rates of the organochlorine compound aldrin by the oyster Crassostrea rhizophorae, Ciénaga Grande de Santa Marta (Colombian Caribbean). Residual levels were detected in tissues after 24 hours of exposure, showing increases directly related to the exposure concentration. For all the exposure concentrations the highest retention values were measured at 26/1000 salinities, followed by 17/1000, and the lowest values at the highest salinity. The highest bioconcentration values were 96115.5 (at 26/1000), 37938.9 (at 17/1000), and 22605.1, (35/1000) times the environmental concentration. The depuration process varied across salinity levels. At 26/1000 there was a clear decrease in the residual levels during the first five days, eliminating in this period the same amount as oysters kept at 17/1000 for 20 days and surpassing the amount eliminated by those kept at 35/1000 for 20 days. A rapid decrease in the amount of residues is followed by a slow elimination of the aldrin remaining in tissues.
Asunto(s)
Aldrín/análisis , Ostreidae/química , Agua de Mar/química , Aldrín/metabolismo , Animales , Región del CaribeRESUMEN
The present study will examine three common premises in the field of international public health: that the primary care services offered by agencies of the Ministries of Health (MH) are less costly than those offered by Social Security institutions, that the former services are inferior to the latter, and that funds are distributed more equitably by the MH centers among their various recipient populations. The 1986 study compared the costs, quality, and equity of the services in 15 primary care centers in Ecuador--eight Ministry of Health centers and seven rural Social Security (RSS) centers--examining budgetary data from 1985 and obtaining information through a questionnaire and interviews with the personnel at those centers. Average costs were calculated by standardized accounting techniques, and it was confirmed that for several important services, especially medical consultations, these costs were much lower in the Ministry centers than in the Social Security centers. However, no differences in the cost of dental care were detected. The evaluation of quality, based on an analysis of the production structure and process, did not yield uniform results. On the one hand, the distribution of personnel and the allocation of funds for drugs and other supplies indicated that the RSS agencies provided better quality services. On the other hand, a questionnaire revealed that the MH health workers' knowledge of various principles of primary care was superior to that of the RSS workers. Upon comparing the per capita budget of the two types of entities, it was confirmed that the Ministry of Health had more equitable per capita coverage than rural Social Security. The implications of these findings for Ecuador and other developing countries are discussed and several recommendations made.
Asunto(s)
Agencias Gubernamentales/organización & administración , Atención Primaria de Salud/organización & administración , Seguridad Social/organización & administración , Costos y Análisis de Costo , Servicios de Salud Dental/economía , Servicios de Salud Dental/organización & administración , Países en Desarrollo/economía , Ecuador , Agencias Gubernamentales/economía , Atención Primaria de Salud/economía , Salud Rural , Seguridad Social/economíaRESUMEN
This study of costs, quality and financial equity of primary health services in Ecuador, based on 1985 data, examines three assumptions, common in international health, concerning Ministry of Health (MOH) and Social Security (SS) programs. The assumptions are that MOH services are less costly than SS services, that they are of lower quality than SS services, and that MOH programs are more equitable in terms of the distribution of funds available for PHC among different population groups. Full costs of a range of primary health services were estimated by standard accounting techniques for 15 typical health care establishments, 8 operated by the MOH and 7 by the rural SS program (RSSP), serving rural and peri-urban populations in the two major geographical regions of Ecuador. Consistent with the conventional premise, MOH average costs were much lower than RSSP costs for several important types of services, especially those provided by physicians. Little difference was found for dental care. The lower MOH physician service costs appeared to be attributable primarily to lower personnel compensation (only partially offset by lesser productivity) and to greater economies of scope. Several measures of the quality of care were applied, with varying results. Based on staff differences and patterns of expenditures on resource inputs, notably drugs, RSSP quality appeared higher, as assumed. However, contrary to expectation, a questionnaire assessment of staff knowledge and procedures favored the MOH for quality. Program equity was judged in terms of per capita budgeted expenditures (additional measures, such as the likelihood of receiving necessary care, would have required household survey data beyond the scope of this program-based study). The results support the assumption of greater MOH financial equity, as its program reveals less variation in budgeted expenditures between different population groups covered. Additional evidence of equity, using other indicators, would be helpful in future research. The paper's findings have policy implications not only for Ecuador's health sector but also for policy-makers in other countries at similar levels of socioeconomic development. These implications are spelled out in order to guide officials wrestling with issues of efficiency, quality, and equity as they search for the best use of scarce resources to promote health.