PubMed · 11628079
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D B Bagur. 1973. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628079/
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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.
Morphological types of arbuscular mycorrhizal (AM) fungi associated with Lotus glaber in sodic soils of the Salado River basin were studied. At least eight colonization patterns (IP) of AM fungi in roots of L. glaber were observed after 30 plants were analyzed. Arum- and Paris-type infection were found in the same plant species. This result supports the idea that AM morphology is not solely under plant control, but is also influenced by fungal identity. One infection pattern, presumably corresponding to Glomus intraradices, and a second, possibly assignable to Glomus tenue, were the most commonly found. Our results reinforce previous suggestions that G. intraradices is well adapted to sodic-saline conditions and may play a role in the resistance of L. glaber to these soils.
Two types of time scales--10-day intervals (D) and phenological phases (P)--were applied to environmental variables for the development of statistical regression models relating to the southwest pampa region of Argentina, with the aim of detecting the effects of weather on wheat yields for the period 1977-1999. The parameters were grouped as meteorological and processed variables and indices. The processed variables used were total soil water availability (SWA) and the ratio of actual evapotranspiration to potential evapotranspiration (alpha), obtained from a water-balance model in which the moisture anomaly index (Z) and the Palmer drought severity index (PDSI) were calculated according to Palmer's model. For these parameters it was possible to establish the times of year and the phenological phases with the best correlation to grain yield. The regression equation for meteorological variables on a 10-day scale provides one of the best fits. Using mixed parameters, the two models, D and P, give rise to a standard error of estimate of approximately 200 kg ha(-1). Truncated models perform better on a P scale than on a D scale. The use of phenological stages improved yield assessment, particularly for those years with extreme meteorological conditions. The optimum models were tested and root-mean-square errors (RMSE) of 440 kg ha(-1) and 470 kg ha(-1) were obtained for P and D scales respectively.