PubMed · 11628069
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J A Codazzi Aguirre. 1973. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628069/
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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.
Glyphosate [N-(phosphonomethyl) glycine]-resistant crops (GRCs), canola (Brassica napus L.), cotton (Gossypium hirsutum L.), maize (Zea mays L.), and soybean [Glycine max (L.) Merr.] have been commercialized and grown extensively in the Western Hemisphere and, to a lesser extent, elsewhere. Glyphosate-resistant cotton and soybean have become dominant in those countries where their planting is permitted. Effects of glyphosate on contamination of soil, water, and air are minimal, compared to some of the herbicides that they replace. No risks have been found with food or feed safety or nutritional value in products from currently available GRCs. Glyphosate-resistant crops have promoted the adoption of reduced- or no-tillage agriculture in the USA and Argentina, providing a substantial environmental benefit. Weed species in GRC fields have shifted to those that can more successfully withstand glyphosate and to those that avoid the time of its application. Three weed species have evolved resistance to glyphosate in GRCs. Glyphosate-resistant crops have greater potential to become problems as volunteer crops than do conventional crops. Glyphosate resistance transgenes have been found in fields of canola that are supposed to be non-transgenic. Under some circumstances, the largest risk of GRCs may be transgene flow (introgression) from GRCs to related species that might become problems in natural ecosystems. Glyphosate resistance transgenes themselves are highly unlikely to be a risk in wild plant populations, but when linked to transgenes that may impart fitness benefits outside of agriculture (e.g., insect resistance), natural ecosystems could be affected. The development and use of failsafe introgression barriers in crops with such linked genes is needed.
OBJECTIVE: To identify factors predictive of good or poor recovery of health status and health-related quality of life (HRQOL) 90 days after admission to an intensive care unit (ICU). DESIGN AND SETTING: Prospective international multicentre study in 19 ICUs participating in the HRQOL substudy of the SAPS 3 project. INTERVENTION: The EuroQol questionnaire (EQ) was administered to discharged ICU patients 90 days after admission. A question to compare present health status with that 3 months before ICU admission (same/better/worse) was added. PATIENTS: Six hundred and eighteen patients who spent >24h in an ICU and survived for 90 days. EQ data and health comparison were available in 559 (90.5%) of them. MEASUREMENTS AND RESULTS: Patients reported their general level of health to be better (33.8%), the same (31.1%), or worse (35.1%) in comparison with baseline. Recovery was considered to be good for answers "better" or "the same". Regression analysis showed that transplantation surgery [odds ratio (OR) 0.07, 95% confidence interval (CI) 0.01-0.63], coronary artery bypass surgery without valvular repair (OR 0.39, 95% CI 0.17-0.92) and being admitted to the ICU from a ward or other location (OR 0.55, 95% CI 0.31-0.95) predicted good recovery of health. Predictors of poor recovery (all present at the time of ICU admission) were unplanned ICU admission, hypothermia, serum creatinine level >or=2mg/dl, pH<or=7.25 and metastatic cancer. CONCLUSIONS: More than 60% of ICU patients report good recovery of their health 90 days after ICU admission, depending on their illness and circumstances of ICU admission.