Population and allelic variation of A-to-I RNA editing in human transcriptomes.

BackgroundA-to-I RNA editing is an important step in RNA processing in which specific adenosines in some RNA molecules are post-transcriptionally modified to inosines. RNA editing has emerged as a widespread mechanism for generating transcriptome diversity. However, there remain significant knowledge gaps about the variation and function of RNA editing.ResultsIn order to determine the influence of genetic variation on A-to-I RNA editing, we integrate genomic and transcriptomic data from 445 human lymphoblastoid cell lines by combining an RNA editing QTL (edQTL) analysis with an allele-specific RNA editing (ASED) analysis. We identify 1054 RNA editing events associated with cis genetic polymorphisms. Additionally, we find that a subset of these polymorphisms is linked to genome-wide association study signals of complex traits or diseases. Finally, compared to random cis polymorphisms, polymorphisms associated with RNA editing variation are located closer spatially to their respective editing sites and have a more pronounced impact on RNA secondary structure.ConclusionsOur study reveals widespread cis variation in RNA editing among genetically distinct individuals and sheds light on possible phenotypic consequences of such variation on complex traits and diseases

Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: A case report and review

Deletion in the Xp22.31 region is increasingly suggested to be involved in the etiology of epilepsy. Little is known regarding the genomic and clinical delineations of X-linked epilepsy in the Chinese population or the sex-stratified difference in epilepsy characteristics associated with deletions in the Xp22.31 region. In this study, we reported two siblings with a 1.69 Mb maternally inherited microdeletion at Xp22.31 involving the genes VCX3A, HDHD1, STS, VCX, VCX2, and PNPLA4 presenting with easily controlled focal epilepsy and language delay with mild ichthyosis in a Chinese family with a traceable 4-generation history of skin ichthyosis. Both brain magnetic resonance imaging results were normal, while EEG revealed epileptic abnormalities. We further performed an exhaustive literature search, documenting 25 patients with epilepsy with gene defects in Xp22.31, and summarized the epilepsy heterogeneities between sexes. Males harboring the Xp22.31 deletion mainly manifested with child-onset, easily controlled focal epilepsy accompanied by X-linked ichthyosis; the deletions were mostly X-linked recessive, with copy number variants (CNVs) in the classic region of deletion (863.38 kb–2 Mb). In contrast, epilepsy in females tended to be earlier-onset, and relatively refractory, with pathogenic CNV sizes varying over a larger range (859 kb–56.36 Mb); the alterations were infrequently inherited and almost combined with additional CNVs. A candidate region encompassing STS, HDHD1, and MIR4767 was the likely pathogenic epilepsy-associated region. This study filled in the knowledge gap regarding the genomic and clinical delineations of X-linked recessive epilepsy in the Chinese population and extends the understanding of the sex-specific characteristics of Xp22.31 deletion in regard to epilepsy

BIOMECHANICAL EFFECT OF GROUP EXERCISE PROGRAM USING STABILITY BALL ON THE COUNTER MOVEMENT JUMP

The purpose of this study was to evaluate the training effect of three-month group exercise program using stability ball. Ten female subjects were recruited to join this group exercise class for three months. The biomechanical parameters of counter-movement jump were collected before and after class. The average of maximal jumping height and the take-off velocity have significantly increased after three months. The group exercise program accoring American College of Sport Medicine trainig guideline which was designed in this study was helpful to increase the jump height of counter movement jump and to improve the biomechanical parameters of the landing

Chromosomal aberrations in pediatric patients with moderate/severe developmental delay/intellectual disability with abundant phenotypic heterogeneities: A single-center study

Background: This study aimed to examine the clinical usefulness of chromosome microarray (CMA) for selective implementation in patients with unexplained moderate or severe developmental delay/intellectual disability (DD/ID) and/or combined with different dysphonic features in the Han Chinese population. Methods: We retrospectively analyzed data on 122 pediatric patients with unexplained isolated moderate/severe DD/ID with or without autism spectrum disorders, epilepsy, dystonia, and congenital abnormalities from a single-center neurorehabilitation clinic in southern China. Results: A total of 46 probands (37.7%) had abnormal CMA results among the 122 study patients. With the exclusion of aneuploidies, uniparental disomies, and multiple homozygotes, 37 patients harbored 39 pathogenic copy number variations (pCNVs) (median [interquartile range] size: 3.57 [1.6 to 7.1] Mb; 33 deletions and 6 duplications), enriched in chromosomes 5, 7, 15, 17, and 22, with a markedly high prevalence of Angelman/Prader-Willi syndrome (24.3% [nine of 37]). Three rare deletions in the regions 5q33.2q34, 17p13.2, and 13q33.2 were reported, with specific delineation of clinical phenotypes. The frequencies of pCNVs were 18%, 33.3%, 38.89%, 41.67%, and 100% for patients with 1, 2, 3, 4, and 5 study phenotypes, respectively; patients with more concomitant abnormalities in the heart, brain, craniofacial region, and/or other organs had a higher CMA diagnostic yield and pCNV prevalence (P \u3c 0.05). Conclusions: Clinical application of CMA as a first-tier test among patients with moderate/severe DD/ID combined with congenital structural anomalies improved diagnostic yields and the quality of clinical management in this series of patients

SaccadeNet: A Fast and Accurate Object Detector

Object detection is an essential step towards holistic scene understanding. Most existing object detection algorithms attend to certain object areas once and then predict the object locations. However, neuroscientists have revealed that humans do not look at the scene in fixed steadiness. Instead, human eyes move around, locating informative parts to understand the object location. This active perceiving movement process is called \textit{saccade}. %In this paper, Inspired by such mechanism, we propose a fast and accurate object detector called \textit{SaccadeNet}. It contains four main modules, the \cenam, the \coram, the \atm, and the \aggatt, which allows it to attend to different informative object keypoints, and predict object locations from coarse to fine. The \coram~is used only during training to extract more informative corner features which brings free-lunch performance boost. On the MS COCO dataset, we achieve the performance of 40.4\% mAP at 28 FPS and 30.5\% mAP at 118 FPS. Among all the real-time object detectors, %that can run faster than 25 FPS, our SaccadeNet achieves the best detection performance, which demonstrates the effectiveness of the proposed detection mechanism