PubMed · 15505248
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Tomás A Orduna. 2004-10-26. Mapping malaria.. https://doi.org/10.1503/cmaj.1041374
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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.
Here we present a survey including 52 drug-naive recently HIV-1-infected subjects from Buenos Aires City and province (79%) and 3 other regions in Argentina (21%). Recent infections were established from previous negative serology (32/52), indeterminate Western blot (12/52), or acute retroviral syndrome after high-risk HIV exposure (8/52) within 9 months before genotyping (median time, 4.2 months). Genotyping was performed from plasma by sequencing both protease and reverse transcriptase. Phylogenetic analysis combined with bootscanning resulted in 21 subtype B sequences and 31 B/F recombinants (RecBF). On protease, minor resistance-related mutations were found in both subtype B and RecBF with low frequencies. The substitution L89M, recently suggested as a resistance-related mutation in some subtype F viruses, was observed in 1 RecBF. On reverse transcriptase, major resistance-related mutations were found in 4 of 52 (7.7%) patients from different health centers: M41L (subtype B) and K103N+/-P225H (1 RecBF and 2 subtype B). The greater than 5% resistance threshold found indicates a need for sentinel resistance surveillances calling for an update in the current resistance testing guidelines in Argentina.
This article reports the surface properties (electrophoretic mobility, surface charge and specific surface area (SSA)), and phosphate release rates of sediments from two Argentinean reservoirs. Even though sediments are a heterogeneous mixture of minerals with different charging behavior, electrophoresis reveals that all sediment particles are negatively charged in the pH range 3-9. Iron and aluminum oxides, which usually carry a net positive charge at low pH, seem to be forming aggregates with negatively charged minerals and/or carrying a net negative charge due to the presence of organic matter. The phosphate release rate increased by increasing pH and temperature, and depended linearly on the SSA of the sediments. These data, together with the high activation energy of the process, indicate that the rate-controlling process is a chemical reaction occurring at the solid-water interface, and not a diffusion process. The rate-controlling step seems to be the breaking of bonds between phosphate and surface groups, breaking that should be preceded by one or more deprotonation steps at the surface and favored by electrostatic repulsion between the negative charge surface and the phosphate anion.