PubMed · 15368976
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Louis Bruhnke. 2004. Disaster exercises: avoiding a train wreck.. https://pubmed.ncbi.nlm.nih.gov/15368976/
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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.
The population of many Latin American countries is having increasing difficulty in accessing needed medicines due to the rise in their unitary cost and the growing number of poor in most countries of the region. A number of countries have taken steps to increase access to pharmaceuticals and have had different levels of success. This article reports on two country-wide programmes: the AIDS programme in Brazil, which has been judged as being highly successful, and the Remediar programme that has been implemented recently in Argentina. Both programmes have significantly increased access to needed pharmaceuticals, and Argentina has done it in a record time. In the discussion, we suggest that pharmaceutical interventions are successful when there is a firm political commitment, they are comprehensive, include the participation of civil society, and use a combination of methods to control the rising cost of medicines, including centralized international competitive bidding processes for drug procurement and reliance on multi-source drugs.
We conducted a retrospective review of 130 occupational blood borne pathogens exposure (BBP-OE) records at Centro de Estudios Médicos e Investigaciones Clínicas, a university hospital with an ongoing educational program and a postexposure management program for healthcare workers (HCWs) since 1995, in order to evaluate adherence to a hospital BBP-OE management program. We compared HCWs from our institution (Group 1) and HCWs from independent institutions that contract our postexposure management program (Group 2). Compliance with standard precautions in Group 1 was inadequate in 77%, 23%, and 16% of nurses, physicians, and others, respectively. A greater proportion of HCWs in Group 1 (74% vs. 40%) reported occupational accidents within two hours after exposure (p = 0.0001). No difference was observed regarding compliance with adherence to schedule, partial adherence, and loss at follow-up (14%, 33%, and 53%; p > 0.05). Adherence to the standard of care for BBP-OE, including postexposure prophylaxis, was low (HIV: 53% and HBV: 63%). Knowledge of the seropositive status of the source patient did not improve adherence. We conclude that postexposure programs do not guarantee appropriate behavior by HCWs. General interventions and ongoing personnel education to modify individual attitudes are needed, as are continued efforts to assess HCWs' experiences with these programs, as well as the identification of strategies to improve adherence.