The Curation of Genetic Variants: Difficulties and Possible Solutions

The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. © 2012 Beijing Institute of Genomics, Chinese Academy of Sciences and Genetics Society of China

Neural adaptations after 4 years vs. 12 weeks of resistance training vs. untrained

The purpose of this study was to compare the effect of resistance training (RT) duration, including years of exposure, on agonist and antagonist neuromuscular activation throughout the knee extension voluntary torque range. Fifty‐seven healthy men (untrained [UNT] n=29, short‐term RT [12WK] n=14, and long‐term RT [4YR] n=14) performed maximum and sub‐maximum (20‐80% maximum voluntary torque [MVT]) unilateral isometric knee extension contractions with torque, agonist and antagonist surface EMG recorded. Agonist EMG, including at MVT, was corrected for the confounding effects of adiposity (i.e. muscle‐electrode distance; measured with ultrasonography). Quadriceps maximum anatomical cross‐sectional area (QACSAMAX; via MRI) was also assessed. MVT was distinct for all three groups (4YR +60/+39% vs. UNT/12WK; 12WK +15% vs. UNT; 0.001<P≤0.021), and QACSAMAX was greater for 4YR (+50/+42% vs. UNT/12WK; [both] P<0.001). Agonist EMG at MVT was +44/+33% greater for 4YR/12WK ([both] P<0.001) vs. UNT; but did not differ between RT groups. The torque‐agonist EMG relationship of 4YR displayed a right/down shift with lower agonist EMG at the highest common torque (196 Nm) compared to 12WK and UNT (0.005≤P≤0.013; Effect size [ES] 0.90≤ES≤1.28). The torque‐antagonist EMG relationship displayed a lower slope with increasing RT duration (4YR<12WK<UNT; 0.001<P≤0.094; 0.56≤ES≤1.31), and antagonist EMG at the highest common torque was also lower for 4YR than UNT (‐69%; P<0.001; ES=1.18). In conclusion, 4YR and 12WK had similar agonist activation at MVT and this adaptation may be maximised during early months of RT. In contrast, inter‐muscular coordination, specifically antagonist co‐activation was progressively lower, and likely continues to adapt, with prolonged RT

Retinoic acid receptor-α signalling antagonizes both intracellular and extracellular amyloid-β production and prevents neuronal cell death caused by amyloid-β

Alzheimer’s disease (AD) is characterized by amyloid-β (Aβ) deposition in the brain, neuronal cell loss and cognitive decline. We show here that retinoic acid receptor (RAR)α signalling in vitro can prevent both intracellular and extracellular Aβ accumulation. RARα signalling increases the expression of a disintegrin and metalloprotease 10, an α-secretase that processes the amyloid precursor protein into the non-amyloidic pathway, thus reducing Aβ production. We also show that RARα agonists are neuroprotective, as they prevent Aβ-induced neuronal cell death in cortical cultures. If RARα agonists are given to the Tg2576 mouse, the normal Aβ production in their brains is suppressed. In contrast, neither RARβ nor γ-agonists affect Aβ production or Aβ-mediated neuronal cell death. Therefore, RARα agonists have therapeutic potential for the treatment of AD

Management of Fecal Incontinence in Older People With Dementia Resident in Care Homes: A Realist Synthesis-The FINCH Study.

This document is the Accepted Manuscript version of the Editorial to Journal of the American Medical Directors Association, Vol. 198 (9):750-751. Under embargo. Embargo end date: 21 July 2018. The published version is available online at doi: https://doi.org/10.1016/j.jamda.2017.06.001. Crown Copyright © 2017 Published by Elsevier Inc. on behalf of AMDA - The Society for Post-Acute and Long-Term Care Medicine.Peer reviewe

ASSESSING THE IMPACT OF BEET WEBWORM MOTHS ON SUNFLOWER FIELDS USING MULTITEMPORAL SENTINEL-2 SATELLITE IMAGERY AND VEGETATION INDICES

Remote sensing technology plays a crucial role in detecting and monitoring environmental issues, offering the ability to monitor large areas, diagnose problems early, and facilitate accurate interventions. By integrating in-situ data with qualitative measurements obtained from satellite images, comprehensive insights can be obtained, and statistical inferences can be established. This study focuses on analyzing the damages caused by beet webworm moths (Loxostege sticticalis) in sunflower fields located in the Ortaca neighborhood of Tekirdağ province in Thrace region, utilizing Sentinel-2 satellite images and in-situ data collected from the sunflower fields in Ortaca. The relationship between different spectral indices, such as the Enhanced Vegetation Index, Chlorophyll Index Green, and spectral transformation techniques like Tasseled Cap Greenness, derived from Sentinel-2 satellite images, and the observed damage rates in various sunflower fields' in-situ data was investigated. The results revealed a negative correlation between the variables, highlighting EVI as the most effective indicator of damage among the plant indices. Leveraging these findings, a damage map was generated using EVI, enabling visual interpretation of the damage status in other sunflower fields within the study area. These findings offer valuable insights into the impact of pests on sunflower crops, despite the accuracy evaluation results falling below the desired level, with an overall accuracy of 75% and a Kappa accuracy of 65%, attributed to the limited availability of in-situ data