PubMed · 11628090
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S Corbellini. 1973. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628090/
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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.
Natural contamination with arsenic and other toxic trace elements was studied on a 50,000 km(2) area of the Pampean Plain in Argentina. The locations where natural sources of arsenic are considered to be of concern continue to grow, and include those associated with soils developed on loess or loessic sediments zones and transported volcanic materials sites. Contents of total arsenic, vanadium, chromium, iron and barium higher than those recommended as maximum allowable levels in drinking waters have been measured. In the case of arsenic, analyses of raw groundwaters yielded levels as high as 600 microg As/l. Reported data are discussed in connection with geological and environmental processes involved in ground water contamination.
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