PubMed · 11628049
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C Spagnuolo. 1973. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628049/
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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.
This paper presents a statistical study of the sea-land breeze in Mar del Plata (Argentina) to characterize the periods of the year when the breeze affects pollen transport, particularly the dispersion of airborne Poaceae pollen between urban and rural areas. In order to analyse the sea breeze circulation, hourly data from coastal, urban and rural meteorological stations were used. The effect of the sea breeze on the particulate matter was analysed from syncronic hourly airborne pollen records from an urban and a rural area. A sea-land breeze appeared between spring and early autumn in the hours of greatest diurnal warming. Results showed that the surface wind direction most probably associated with this phenomenon is NE and E, the time of occurrence shifting to new directions following the counterclockwise rotation, according to theoretical models for the Southern Hemisphere. Poaceae emission takes place in the morning, during the hours of maximum insolation. However, after the occurrence of the breeze, a rise in pollen concentration between 2000 hours and 0200 hours is detected because of pollen reentrainment brought about by air recirculation. The results showed that breeze transport brings a regional component to pollen assemblage.
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