PubMed · 11628187
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E P Aznarez. 1969. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628187/
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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.
Most of what is known about the evolution of deinonychosaurs (that is, the group of theropods most closely related to birds) is based on discoveries from North America and Asia. Except for Unenlagia comahuensis and some fragmentary remains from northern Africa, no other evidence was available on deinonychosaurian diversity in Gondwana. Here we report a new, Late Cretaceous member of the clade, Neuquenraptor argentinus gen. et sp. nov., representing uncontroversial evidence of a deinonychosaurian theropod in the Southern Hemisphere. The new discovery demonstrates that Cretaceous theropod faunas from the southern continents shared greater similarity with those of the northern landmasses than previously thought. Available evidence suggests that deinonychosaurians were probably distributed worldwide at least by the beginning of the Cretaceous period. The phylogenetic position of the new deinonychosaur, as well as other Patagonian coelurosaurian theropods, is compatible with a vicariance model of diversification for some groups of Gondwanan and Laurasian dinosaurs.
Ibera wetland is one of the most pristine and singular ecosystems of South America. Satellite-derived thermal analysis of its lacustrine system supported the existence of a groundwater connection with the Yacyreta reservoir through basaltic fractures located along the ancient river bed of the Parana. The groundwater outflow would be located on the geological discontinuity of the eastern border of Ibera wetland, concretely Laguna Ibera and Laguna Luna-Disparo. This new sign of connection comes on top of the hydrological signs which already exist. A call to prudence recommends not extending the recently projected increase of the water level of Yacyreta reservoir. Deeper hydrogeological studies should analyze the hypothesis emerged from this study before modifying the water level of Yacyreta.