PubMed · 11628047
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A P Real. 1973. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628047/
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Introduction. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of the SMN1 gene, with a variable clinical spectrum determined primarily by the number of copies of the SMN2 gene. The development of new therapies underscores the importance of early molecular diagnosis and genotype-phenotype characterization. Objective. To describe 27 years of experience in the molecular diagnosis of SMA at a pediatric referral hospital in Argentina and to evaluate the correlation between SMN2 copy number and the SMA types.Population and methods. A retrospective descriptive study was conducted on 1060 pediatric patients with clinically suspected SMA who were evaluated between 1997 and 2024. Molecular diagnosis was performed using PCR-RFLP and, since 2012, MLPA to determine SMN1 and SMN2 copy number. Genotype-phenotype correlation was evaluated in 260 patients with complete clinical characterization. Results. The diagnosis was confirmed in 513 patients. A homozygous deletion of the SMN1 gene was detected in 99.6% of unrelated cases. The positivity rate increased over time. A significant correlation was observed between the number of SMN2 copies and the type of SMA, with milder phenotypes associated with a higher number of copies. Conclusion. Molecular diagnosis of SMA enabled accurate and timely characterization of patients, avoiding invasive procedures and optimizing therapeutic decision-making. Genotype-phenotype correlation is a fundamental tool for prognosis and clinical management, highlighting the importance of an interdisciplinary approach.
Long range transport of airborne pollen has been seldom studied in South America. Backward trajectories of Celtis and Nothofagus pollen grains trapped over a meteorological station outside Mar del Plata City were calculated in one-hour steps using the regional hybrid model developed by the NOAA (HYSPLIT 4.5) and the data of the NCEP filed in the NOAA server. Results showed that the observed trajectories agree with the location of vegetation sources of the collected tree species. In the case of Celtis, the transport was associated to anticyclones located east of the city, generating winds with a N-NE component, which produce pollen cloud advection from the Celtis forests located some tens of kilometers to the N and NE of the city. The sources of Nothofagus pollen correspond to a narrow strip on the Andes slopes between 39 degrees and 55 degrees S, at least 1100 km to the SW of Mar del Plata. The transport was associated to eastward displacement of the troughs corresponding to the Westerlies circulation and the presence of an anticyclone system that brings back Nothofagus pollen towards Mar del Plata area.
A linear engineering project--i.e. a pipeline--has a potential long- and short-term impact on the environment and on the inhabitants therein. We must find better, less expensive, and less time-consuming ways to obtain information on the environment and on any modifications resulting from anthropic activity. We need scientifically sound, rapid and affordable assessment and monitoring methods. Construction companies, industries and the regulating government organisms lack the resources needed to conduct long-term basic studies of the environment. Thus there is a need to make the necessary adjustments and improvements in the environmental data considered useful for this development project. More effective and less costly methods are generally needed. We characterized the landscape of the study area, situated in the center and north-east of Argentina. Little is known of the ecology of this region and substantial research is required in order to develop sustainable uses and, at the same time, to develop methods for reducing impacts, both primary and secondary, resulting from anthropic activity in this area. Furthermore, we made an assessment of the environmental impact of the planned linear project, applying an ad hoc impact index, and we analyzed the different alternatives for a corridor, each one of these involving different sections of the territory. Among the alternative corridors considered, this study locates the most suitable ones in accordance with a selection criterion based on different environmental and conservation aspects. We selected the corridor that we considered to be the most compatible--i.e. with the least potential environmental impact--for the possible construction and operation of the linear project. This information, along with suitable measures for mitigating possible impacts, should be the basis of an environmental management plan for the design process and location of the project. We pointed out the objectivity and efficiency of this methodological approach, along with the possibility of integrating the information in order to allow for the application thereof in this type of study.