PubMed · 6963735
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[Basic model for oral health programs].. https://pubmed.ncbi.nlm.nih.gov/6963735/
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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.
Sustainability of conventional agriculture is based upon a high input of agrochemicals, such as phosphate fertilizers. Conventional inorganic phosphorus fertilizers may cause an inadvertent addition of heavy metals, which are contained as impurities. Fertilizers commonly used in Argentina were analyzed to determine concentrations of chromium, cadmium, copper, zinc, nickel and lead. Rock phosphate contained the highest levels of cadmium and zinc, chromium was enhanced in diammonium phosphate and copper and lead were high in one superphosphate sample. Urea-phosphate contained the lowest levels of heavy metals. Concentrations of heavy metals varied considerably and the levels of Cd and Pb in some analyzed materials were significant relative to those naturally present in soils. Continuous fertilization of soils could increase the heavy metal contents exceeding natural abundances in soils, and transfer of these metals to the human food chain must not be overlooked.
Human cystic echinococcosis (CE) caused by larval Echinococcus granulosus is a zoonosis of major public health importance throughout Latin America. The Andean and South Cone regions have been recognized as endemic areas of cystic echinococcosis. This paper reviews prevalence in Argentina, Chile, Uruguay, Brazil and Peru.