PubMed · 11628164
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J V Uriburu, E T Bernardello, J A Gesualdi. 1969. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628164/
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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.
Injection drug users (IDUs) constitute a population highly vulnerable to infections transmitted by blood or sexual relations. Social problems and marginalization hinder IDUs from accessing the health care system. The rates of prevalence of human immunodeficiency virus, hepatitis C virus, and hepatitis B virus infections in IDUs are high, and they have become of great concern for the Argentinean health care system. An integral frame oriented to identifying the extent of the different individual risk factors, and to enhancing social circumstances, has shown a significant benefit in terms of personal and social matters. These risk factors were analyzed according to a severity of drug abuse scoring system. At the beginning of the study, only 7 of 108 patients were in a low gravity stage, whereas there were 40 patients in the low gravity stage by the end of the study (P<.0001). On the basis of our results, we conclude that low-cost nonmedical tools are effective and have a high impact on patients' health.
The aim of this study was to compile published data and to describe the prevalences of human immunodeficiency virus (HIV) infection among injection drug users (IDUs) in different populations studied in Argentina from 1987 through 1999. Twenty-two studies of HIV infection in the IDU population were selected, and 6 subject groups were defined: outpatients, prisoners, children in rehabilitation institutes, hospitalized patients, IDUs receiving drug treatment, and female sex workers. The median prevalence of HIV infection among 1506 outpatients (5 studies) was 64.0%; among 175 prisoners (1 study), the prevalence was 35.4%; among 446 children in rehabilitation institutes (4 studies), the prevalence was 48.1%; among 136 hospitalized patients (2 studies), the prevalence was 49.5%; among 2708 IDUs receiving drug treatment (7 studies), the prevalence was 39.0%; and among 26 female sex workers (2 studies), the prevalence was 47.0%. Prevalence of HIV infection was high among IDUs in Argentina, ranging from 27% to 80%.