Special Libraries, October 1922

Volume 13, Issue 8https://scholarworks.sjsu.edu/sla_sl_1922/1007/thumbnail.jp

Evolution and implications of de novo genes in humans

Genes and translated open reading frames (ORFs) that emerged de novo from previously non-coding sequences provide species with opportunities for adaptation. When aberrantly activated, some human-specific de novo genes and ORFs have disease-promoting properties—for instance, driving tumour growth. Thousands of putative de novo coding sequences have been described in humans, but we still do not know what fraction of those ORFs has readily acquired a function. Here, we discuss the challenges and controversies surrounding the detection, mechanisms of origin, annotation, validation and characterization of de novo genes and ORFs. Through manual curation of literature and databases, we provide a thorough table with most de novo genes reported for humans to date. We re-evaluate each locus by tracing the enabling mutations and list proposed disease associations, protein characteristics and supporting evidence for translation and protein detection. This work will support future explorations of de novo genes and ORFs in humans

Optimal use of advanced technology: 13th Congress of the Asian Pacific Society of Respirology, Bangkok, Thailand, 19–22 November 2008

The Asian Pacific Society of Respirology held its 13th Congress in Bangkok, Thailand, between 19 and 22 November 2008. It was attended by over 1500 delegates from around the world, particularly well represented by delegates from the Asia Pacific Rim. The congress was highlighted by an excellent scientific program, preceded by an educational course on pulmonary laboratory practices and several postgraduate courses. Office bearers representing the American Thoracic Society, European Respiratory Society and American College of Chest Physicians, among others, made significant contributions, further enhancing the high-quality faculty

Improved safety with equivalent asthma control in adults with chronic severe asthma on high-dose fluticasone propionate

Objective: High-dose inhaled corticosteroids (ICS) have been associated with the same side-effects as oral corticosteroids. Beclomethasone dipropionate (BDP) and budesonide (BUD) in doses greater than 2000 μg/day are used regularly in severe asthma, despite the fact that safety and efficacy data at such high doses are limited. Fluticasone propionate (FP) has been promoted as being twice as potent clinically as BDP or BUD at doses of 2000 μg/day or less with a similar safety profile. The aim of this study was to compare the efficacy and safety of FP with BDP and BUD in 133 symptomatic adult asthmatics requiring at least 1750 μg/day of BDP or BUD. Methodology: Patients fulfilling the entry criteria were randomized to receive either their regular ICS medication or FP at approximately half the microgram dose for 6 months in an open, parallel group study. The primary efficacy measure was based on morning peak expiratory flow measurements recorded by patients on daily record cards, while determination of safety was based on a number of endpoints including changes in bone turnover indices, the incidence of topical side-effects and assessments of quality of life. Results: It was shown that patients who were switched to FP, but not those continuing with BDP or BUD, had significant increases in levels of morning serum cortisol and the urine cortisol: creatinine ratio while maintaining asthma control. Serum osteocalcin and the pyridinoline: creatinine ratio, as well as the deoxypyridinoline:creatinine ratio, were also shown to increase only in the FP group. Subjective assessments such as quality of life score, the incidence and ease of bruising, and reports of hoarseness also favoured the FP group. Conclusions: It is concluded that, at the doses studied and with the delivery devices used clinically, FP is at least as effective as BDP/BUD in the management of severe asthma and may offer clinical advantages with respect to steroid-related adverse effects

Thermoplastic Polyurethane Cross-Linked by Functionalized Silica. Nanostructure Evolution under Mechanical Load

Composites of TPU (Elastollan 685A by BASF) and 0–0.5 wt % 3-aminopropyltriethoxysilane functionalized silica spheres (diameter 14 nm) are strained and subjected to load cycling. Tests are monitored by SAXS which is analyzed by the chord distribution function (CDF) method. Extensibility of the soft phase is limited. Macroscopic strain is accomplished by failure of single soft domains. Broken entities comprise the overstretched soft domain, sandwiched between two hard domains. Macroscopic strain at failure determines the most probable thickness of the sandwich. Failure propagates from disordered regions into well-arranged ensembles (WAE) of domains. The higher the nanosphere content, the earlier the WAE are affected. Outbursts of local failure happen at strains of 100% and 200%. They relieve WAEs. Load cycling does not induce failure of pure TPU but of the nanocomposites. Here failure spreads in the material. The fraction of material that is not affected is a function of the nanosphere content. Extrapolation yields 1.25 wt % when all the material would be affected. Relaxed samples contain sandwiches