Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children

<p>Abstract</p> <p><b>Background</b></p> <p>Dyslexia is a learning disability that is characterized by difficulties in the acquisition of reading and spelling skills independent of intelligence, motivation or schooling. Studies of western populations have suggested that <it>DYX1C1 </it>is a candidate gene for dyslexia. In view of the different languages used in Caucasian and Chinese populations, it is therefore worthwhile to investigate whether there is an association of <it>DYX1C1 </it>in Chinese children with dyslexia.</p> <p>Method and Results</p> <p>Eight single nucleotide polymorphisms (SNPs) were genotyped from three hundred and ninety three individuals from 131 Chinese families with two which have been reported in the literature and six tag SNPs at <it>DYX1C1</it>. Analysis for allelic and haplotypic associations was performed with the UNPHASED program and multiple testing was corrected using false discovery rates. We replicated the previously reported association of rs3743205 in Chinese children with dyslexia (<it>p</it>_{<it>corrected </it>}= 0.0072). This SNP was also associated with rapid naming, phonological memory and orthographic skills in quantitative trait analysis.</p> <p>Conclusion</p> <p>Our findings suggest that <it>DYX1C1 </it>is associated with dyslexia in people of Chinese ethnicity in Hong Kong.</p

ISRM-Suggested Method for Determining the Mode I Static Fracture Toughness Using Semi-Circular Bend Specimen

The International Society for Rock Mechanics has so far developed two standard methods for the determination of static fracture toughness of rock. They used three different core based specimens and tests were to be performed on a typical laboratory compression or tension load frame. Another method to determine the mode I fracture toughness of rock using semicircular bend specimen is herein presented. The specimen is semicircular in shape and made from typical cores taken from the rock with any relative material directions noted. The specimens are tested in three-point bending using a laboratory compression test instrument. The failure load along with its dimensions is used to determine the fracture toughness. Most sedimentary rocks which are layered in structure may exhibit fracture properties that depend on the orientation and therefore measurements in more than one material direction may be necessary. The fracture toughness measurements are expected to yield a size-independent material property if certain minimum specimen size requirements are satisfied

Practices to improve collaboration by reconfiguring boundaries in transnational education

This paper investigates quality assurance as boundary-making practices that establish and re-establish boundaries of a transnational education (TNE) partnership between an Australian and a Malaysian higher education institution. Drawing on practice theory we offer a conception of boundaries as enacted, shifting and performed by the multiple actors involved in the partnership. We employ a relational, practice-based approach and a participatory action research methodology to investigate how quality assurance could be re-configured to enhance relationships and collaboration, and support on-going dialogue, co-developed curriculum and context–sensitive quality measures. This paper re-casts boundaries and borders as collective performances, offering an expanded conception of boundaries from the dualistic home-host, pre-given conceptions common in the TNE literature. Our case study demonstrates how participatory action learning (PAL) is useful for expanding and re-shaping the boundaries in TNE in ways that support the creation of transnational teaching teams and intercultural communities of practice. We show how stretching the boundaries from a dyadic relationship between quality assuror and subject coordinator to include sessional academics and enacting PAL projects using communal media generates the conditions of possibility for developing teaching teams that are transnational in practice as well as in name. The move towards joint responsibility for the development of curriculum, teaching and learning contributes to more equitable partnership approaches and creates possibilities for intercultural engagement between academics and students in different geographical and cultural contexts

Induction of fibroblast senescence generates a non-fibrogenic myofibroblast phenotype that differentially impacts on cancer prognosis

Cancer-associated fibroblasts (CAF) remain a poorly characterized, heterogeneous cell population. Here we characterized two previously described tumor-promoting CAF sub-types, smooth muscle actin (SMA)-positive myofibroblasts and senescent fibroblasts, identifying a novel link between the two

Effect of influenza on cardiorespiratory and all-cause mortality in Hong Kong, Singapore and Guangzhou.

1. Using a common modelling approach, mortality attributable to influenza was higher in the two subtropical cities Guangzhou and Hong Kong than in the tropical city Singapore. 2. The virus activity appeared more synchronised in subtropical cities, whereas seasonality of influenza tended to be less marked in the tropical city. 3. High temperature was associated with increased mortality after influenza infection in Hong Kong, whereas relative humidity was an effect modifier for influenza in Guangzhou. No effect modification was found for Singapore. 4. Seasonal and environmental factors probably play a more important role than socioeconomic factors in regulating seasonality and disease burden of influenza. Further studies are needed in identifying the mechanism behind the regulatory role of environmental factors.published_or_final_versio

Resection of the liver for colorectal carcinoma metastases - A multi-institutional study of long-term survivors

In this review of a collected series of patients undergoing hepatic resection for colorectal metastases, 100 patients were found to have survived greater than five years from the time of resection. Of these 100 long-term survivors, 71 remain disease-free through the last follow-up, 19 recurred prior to five years, and ten recurred after five years. Patient characteristics that may have contributed to survival were examined. Procedures performed included five trisegmentectomies, 32 lobectomies, 16 left lateral segmentectomies, and 45 wedge resections. The margin of resection was recorded in 27 patients, one of whom had a positive margin, nine of whom had a less than or equal to 1-cm margin, and 17 of whom had a greater than 1-cm margin. Eighty-one patients had a solitary metastasis to the liver, 11 patients had two metastases, one patient had three metastases, and four patients had four metastases. Thirty patients had Stage C primary carcinoma, 40 had Stage B primary carcinoma, and one had Stage A primarycarcinoma. The disease-free interval from the time of colon resection to the time of liver resection was less than one year in 65 patients, and greater than one year in 34 patients. Three patients had bilobar metastases. Four of the patients had extrahepatic disease resected simultaneously with the liver resection. Though several contraindications to hepatic resection have been proposed in the past, five-year survival has been found in patients with extrahepatic disease resected simultaneously, patients with bilobar metastases, patients with multiple metastases, and patients with positive margins. Five-year disease-free survivors are also present in each of these subsets. It is concluded that five-year survival is possible in the presence of reported contraindications to resection, and therefore that the decision to resect the liver must be individualized. © 1988 American Society of Colon and Rectal Surgeons

Genomic landscape of lung adenocarcinoma in East Asians

Lung cancer is the world’s leading cause of cancer death and shows strong ancestry disparities. By sequencing and assembling a large genomic and transcriptomic dataset of lung adenocarcinoma (LUAD) in individuals of East Asian ancestry (EAS; n = 305), we found that East Asian LUADs had more stable genomes characterized by fewer mutations and fewer copy number alterations than LUADs from individuals of European ancestry. This difference is much stronger in smokers as compared to nonsmokers. Transcriptomic clustering identified a new EAS-specific LUAD subgroup with a less complex genomic profile and upregulated immune-related genes, allowing the possibility of immunotherapy-based approaches. Integrative analysis across clinical and molecular features showed the importance of molecular phenotypes in patient prognostic stratification. EAS LUADs had better prediction accuracy than those of European ancestry, potentially due to their less complex genomic architecture. This study elucidated a comprehensive genomic landscape of EAS LUADs and highlighted important ancestry differences between the two cohorts

Evaluation of Mode I Fracture Toughness Assisted by the Numerical Determination of K-Resistance

The fracture toughness of a rock often varies depending on the specimen shape and the loading type used to measure it. To investigate the mode I fracture toughness using semi-circular bend (SCB) specimens, we experimentally studied the fracture toughness using SCB and chevron bend (CB) specimens, the latter being one of the specimens used extensively as an International Society for Rock Mechanics (ISRM) suggested method, for comparison. The mode I fracture toughness measured using SCB specimens is lower than both the level I and level II fracture toughness values measured using CB specimens. A numerical study based on discontinuum mechanics was conducted using a two-dimensional distinct element method (DEM) for evaluating crack propagation in the SCB specimen during loading. The numerical results indicate subcritical crack growth as well as sudden crack propagation when the load reaches the maximum. A K-resistance curve is drawn using the crack extension and the load at the point of evaluation. The fracture toughness evaluated by the K-resistance curve is in agreement with the level II fracture toughness measured using CB specimens. Therefore, the SCB specimen yields an improved value for fracture toughness when the increase of K-resistance with stable crack propagation is considered

Estrogen-dependent dynamic profile of eNOS-DNA associations in prostate cancer

In previous work we have documented the nuclear translocation of endothelial NOS (eNOS) and its participation in combinatorial complexes with Estrogen Receptor Beta (ERβ) and Hypoxia Inducible Factors (HIFs) that determine localized chromatin remodeling in response to estrogen (E2) and hypoxia stimuli, resulting in transcriptional regulation of genes associated with adverse prognosis in prostate cancer (PCa). To explore the role of nuclear eNOS in the acquisition of aggressive phenotype in PCa, we performed ChIP-Sequencing on chromatin-associated eNOS from cells from a primary tumor with poor outcome and from metastatic LNCaP cells. We found that: 1. the eNOS-bound regions (peaks) are widely distributed across the genome encompassing multiple transcription factors binding sites, including Estrogen Response Elements. 2. E2 increased the number of peaks, indicating hormone-dependent eNOS re-localization. 3. Peak distribution was similar with/without E2 with ≈ 55% of them in extragenic DNA regions and an intriguing involvement of the 5′ domain of several miRs deregulated in PCa. Numerous potentially novel eNOS-targeted genes have been identified suggesting that eNOS participates in the regulation of large gene sets. The parallel finding of downregulation of a cluster of miRs, including miR-34a, in PCa cells associated with poor outcome led us to unveil a molecular link between eNOS and SIRT1, an epigenetic regulator of aging and tumorigenicity, negatively regulated by miR-34a and in turn activating eNOS. E2 potentiates miR-34a downregulation thus enhancing SIRT1 expression, depicting a novel eNOS/SIRT1 interplay fine-tuned by E2-activated ER signaling, and suggesting that eNOS may play an important role in aggressive PCa

New fixed point theorem under R-contractions

In this manuscript we introduce the notions of R-function and R-contractions, and we show an ad hoc fixed point theorem. We prove that this new kind of contractions properly includes the family of all Meir-Keeler contractions and other well-known classes of contractions that have been given very recently (for instance, those using simulation functions and manageable functions). As a consequence, our approach turns out to be appropriate to unify the treatment of different kinds of contractive nonlinear operators.This article was funded by the Deanship of Scientific Research (DSR), King Abdulaziz University, Jeddah. The second author, therefore, acknowledges with thanks DSR for technical and financial support. The authors are grateful to three anonymous referees for their useful suggestions and comments. AF Roldán López de Hierro is grateful to the Department of Quantitative Methods for Economics and Business of the University of Granada. The same author has been partially supported by Junta de Andalucía by project FQM-268 of the Andalusian CICYE