OTC-Ⅰ型开顶式气室优化设计与性能分析

为了模拟CO2、O3质量浓度升高的环境条件,OTC-Ⅰ型优化开顶式气室设计实现计算机自动控制气室内的气体质量浓度,其它环境条件接近自然状态,气室内空间适合木本植物生长。对气室性能试验分析结果表明,高质量浓度CO2处理(700μmol/mol)的变异量≤4%,高质量浓度O3处理(80mmol/mol)的变异量≤9%,说明处理气室内CO2与O3质量浓度比较稳定,各重复气室之间控制气体质量浓度无显著差异。本套系统可用于植物对气候变化的响应研究,所得数据相对可靠,是模拟气体环境的较好装置,适用于长期的监测研究。

Pharmacy students' use and views on over-the-counter (OTC) medicines; a questionnaire study

Introduction
The role of the pharmacist centers on ensuring the safe and effective use of medicines, including over-the-counter (OTC) medicines. It is important to ascertain pharmacy students’ use and opinions on OTC medicines, given that they are the pharmacists of the future and that this market continues to expand. This study aimed to investigate Queen’s University Belfast (QUB) final year pharmacy students’ use and views on OTC medicines. Scarce work has been conducted in this area to date.

Methods
Following ethical approval and a pilot study, all students (n=155) were invited to participate in a self-completed questionnaire (n=20 questions), distributed at a mandatory class. Descriptive statistics and non-parametric tests (Chi-squared and Mann Whitney U-test) were used for data analyses.

Results
The response rate was 99.4% (154/155). The majority (153/155) reported using OTC medicines; the key consideration during personal product selection was effectiveness. Most [96.1% (147/153)] were in agreement that safety was the over-riding concern during OTC consultations. While 96.1% (149/155) considered that using an evidence-based approach improved the quality of patient care, 68.0% (104/153) would be prepared to sell a product that lacks evidence of effectiveness, provided it would not cause harm.

Conclusions
The importance of evidence of effectiveness was acknowledged, yet many students in this study were prepared to recommend unproven products. Further strategies are required at QUB to ensure this routine consideration alongside safety in practice.

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet

Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine transcarbamylase (OTC) deficiency. The hyperammonemic encephalopathy was unmasked by a high-protein Atkins diet.

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to increase the already wide mutational spectrum known for this gene. In this study we present the clinical, biochemical and molecular features of thirteen late-onset OTC deficiency patients. Mutations were identified in all these patients, among which six were novel point substitutions (L59R, A137P, L148S, Y176L, L186P, and K210N) and one was a 2-bp deletion at exon 4 (341-342delAA). In addition, a de novo genomic deletion of maternal origin encompassing exons 1 to 5 was also identified by the analysis of LD patterns using intragenic polymorphic markers. This work exemplifies the potential value of population genetic studies for the detection of large deletions.

Novel mutation in OTC gene causes neonatal death in twin brothers

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. OTC locus is located in the short arm of X-chromosome. Authors report a case of a woman who gave birth to monozygotic male twins who later died because of severe neonatal-onset hyperammonaemic encephalopathy caused by a novel mutation of OTC gene. Post-mortem liver biopsy was taken from the second twin; afterwards, blood was drawn from the mother for examination. DNA sequence data showed that the mother was a carrier of the same novel mutation that was previously detected in the case of her son. In OTC deficiency, detection of female carriers is important for genetic counselling and eventual prenatal diagnosis.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

BACKGROUND: Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea metabolism that can lead to hyperammonemic crises and orotic aciduria. To date, a total of 341 causative mutations within the OTC gene have been described. However, in about 20% of the patients with enzymatically confirmed OTC deficiency no mutation can be detected when sequencing of genomic DNA analyzing exons and adjacent intronic segments of the OTC gene is performed. METHODS: Standard genomic DNA analysis of the OTC gene in five consecutive patients from five families revealed no mutation. Hence, liver tissue was obtained by needle sampling or open biopsy and RNA extracted from liver was analyzed. RESULTS: Complex rearrangements of the OTC transcript (three insertions and two deletions) were found in all five patients. CONCLUSION: In patients with a strong suspicion of OTC deficiency despite normal results of sequencing exonic regions of the OTC gene, characterization of liver OTC mRNA is highly effective in resolving the genotype. Liver tissue sampling by needle aspiration allows for both enzymatic analysis and RNA based diagnostics of OTC deficiency.