PubMed · 11628757
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A G Kohn Loncarica. 1981. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628757/
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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.
BACKGROUND: Premature ovarian failure (POF) is characterized by hypergonadotropic amenorrhoea before the age of 40. Inhibin alpha-subunit (INHalpha) gene is proposed as a candidate gene due to its role in negative feedback control of FSH. METHODS: Polymorphism -16C>T of INHalpha gene was studied in 61 POF patients and 82 controls above 40 years old (C > 40). Substitution 769G>A was studied in 59 POF patients, 76 C > 40 and 73 controls below 40 years old (C < 40). RESULTS: No significant difference in risk of POF development for -16T allele was found when comparing idiopathic POF (I-POF) with C > 40 (Odds ratio = 1.46; 95% confidence interval = 0.63-3.19). Implication of -16C>T polymorphism in serum inhibin levels was analysed in 46 controls, and no significant differences (P > 0.05) were found between CC and CT + TT genotype groups when comparing either mid-follicular phase Pro-alphaC and inhibin B values or mid-luteal phase Pro-alphaC and inhibin A values. Heterozygosity for substitution 769G>A was found in 1 of 59 POF woman, 2 of 76 C > 40 and 6 of 73 C < 40. Presence of this substitution in a relevant number of control subjects is herein described for the first time. CONCLUSION: Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.
We reviewed published results to estimate no-till effects on SOC and denitrification in the Argentine Pampas and the potential of no-till to mitigate the global warming effect. On an equivalent mass basis, 42 paired data sets were used for SOC comparisons of no-till vs. plow till (moldboard plow or disk plow), 18 paired data for comparison of no-till vs. reduced till (chisel plow or harrow disk), and 20 paired data for comparison of plow till vs. reduced till. Twenty-six denitrification data sets were used for evaluation of tillage system and fertilization effects on N2O emission. Changes in SOC under no-till were not correlated to time since initiation of experiments. Averaged over years a 2.76 Mg ha(-1) SOC increase (P = 0.01) was observed in no-till systems compared with tilled systems, but no differences were detected between plow and reduced till. The SOC under tillage explained most of the SOC variation under no-till (R2= 0.94, P = 0.01). The model had a positive intercept and predicted a relatively higher increase of SOC in areas of low organic matter level. The conversion of the whole pampean cropping area to no-till would increase SOC by 74 Tg C, about twice the annual C emissions from fossil fuel consumption of Argentina. Emissions of N2O were greater under no-till with a mean increase of 1 kg N ha(-1) yr(-1) in denitrification rate for humid pampean scenarios. The increased emissions of N2O might overcome the mitigation potential of no-till due to C sequestration in about 35 yr, and therefore no-till might produce global warming.