PubMed · 11628151
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
E Benzecry. 1969. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628151/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
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.
The objective of this work was to evaluate the most frequent causes of emergency in patients with Chagas disease. Between January 1998-January 1999, individuals with Chagas disease inside the shock-room of Santojanni Hospital in Buenos Aires city, were included in a prospective study. For the statistical analysis, X test with Yates correction has been used. From a total of 1.680 patients entered, there were 95 (6%) with reactive serology for Chagas disease. In 31 individuals the enter cause was syncope, in 28 cardiac insufficiency, in 18 acute coronary events, in 5 stroke, in 3 acute edema of hypertensive lung and in 2 acute encephalitis associated to AIDS. In conclusion, significant association has been observed between: 1) presence of cardiopathy and hospitalization, 2) cardiac insufficiency, syncope, acute encephalitis and mortality, 3) cardiopathy development and mortality and 4) origin place and mortality.
Allele and genotype frequencies for nine STRs loci included in the AmpFlSTR Profiler Plus kit (D3S1385, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820), were determined from urban and countryside population of Córdoba (Argentina). All loci meet the Hardy-Weinberg expectation, and there is little evidence for alleles association between these nine loci. The results demonstrate that these loci can be useful for databasing purposes in human identification and parentage testing in the population of Córdoba (Argentina).