Miracle-dz/UniFAR-FTUs huggingface dataset:
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

α (CAMK2A) and β (CAMK2B) isoforms of Calcium/calmodulin‐dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α‐ and β‐CaMKII variants in neurodevelopmental disorders.
Association of vitamin D receptor Fok I polymorphism with the risk of prostate cancer: a meta-analysis

Several previous studies have been reported to examine the association between Vitamin D receptor (VDR) gene Fok I polymorphism and susceptibility to prostate cancer (PCa), however the results remain inconclusive. To provide a relatively comprehensive account of the association, we searched PubMed, Embase, CNKI, and Wanfang for eligible studies and carry out this meta-analysis. A total of 27 case-control studies with 10,486 cases and 10,400 controls were included. In the overall analysis, Fok I polymorphism was not significantly associated with the susceptibility to PCa. Subgroup analyses showed that significantly association was existed in Caucasian population, the subgroup of population-based controls and the stratified group with advanced tumor.These results indicate that the VDR Fok I polymorphism might be capable of causing PCa susceptibility and could be a promising target to forecast the PCa risk for clinical practice. However further well-designed epidemiologic studies are needed to confirm this conclusion.
A cross-layer approach to message authentication based on sparse representation for wireless body area networks

Due to personal privacy, information security is a particularly important issue in wireless body area networks. Although current communication protocol has considered the security, there is still a risk that lapses in physical layer security may be a potential threat in wireless body area networks. In order to achieve the comprehensive security protection, in this article, we propose a cross-layer authentication approach, where the higher layer and physical layer are simultaneously considered. More specifically, different from current literatures, we exploit the sparse representation of the original signal as the basis of physical layer authentication, and a representative selection algorithm is presented to achieve the signal detection. Moreover, based on IEEE Standard 802.15. 6, we give a feasible unite authentication scheme, in which physical layer strategy and higher layer strategy are combined to enhance the security of authentication. To verify the effectiveness of the proposed physical layer strategy, we conducted experiments and numerical simulations. Furthermore, the computational complexity of the proposed algorithm and the efficiency of the cross-layer approach are analyzed, respectively. Results showed that the proposed approach can significantly enhance the authentication and the complexity is acceptable (polynomial complexity).
The role of social workers in addressing nonmedical needs in primary health care

ABSTRACT Nonmedical needs are intricately linked to health. Unaddressed nonmedical needs often result in poorer health and increased healthcare costs. Although social workers are well positioned to address nonmedical needs, their role in healthcare environments to address nonmedical needs is limited. The limited role relates to a lack of reimbursement streams, which stems from poor articulation about their unique contributions. An analysis of a case study in which a social worker using AIMS, a protocolized care coordination model, was undertaken to highlight specific activities performed by social workers. Implications for patient health outcomes and healthcare costs are discussed.
MicroRNA meta-signature of oral cancer: evidence from a meta-analysis

Abstract Aim: It was the aim of the study to identify commonly deregulated miRNAs in oral cancer patients by performing a meta-analysis of previously published miRNA expression profiles in cancer and matched normal non-cancerous tissue in such patients. Material and methods: Meta-analysis included seven independent studies analyzed by a vote-counting method followed by bioinformatic enrichment analysis. Results: Amongst seven independent studies included in the meta-analysis, 20 miRNAs were found to be deregulated in oral cancer when compared with non-cancerous tissue. Eleven miRNAs were consistently up-regulated in three or more studies (miR-21-5p, miR-31-5p, miR-135b-5p, miR-31-3p, miR-93-5p, miR-34b-5p, miR-424-5p, miR-18a-5p, miR-455-3p, miR-450a-5p, miR-21-3p), and nine were down-regulated (miR-139-5p, miR-30a-3p, miR-376c-3p, miR-885-5p, miR-375, miR-486-5p, miR-411-5p, miR-133a-3p, miR-30a-5p). The meta-signature of identified miRNAs was functionally characterized by KEGG enrichment analysis. Twenty-four KEGG pathways were significantly enriched, and TGF-beta signaling was the most enriched signaling pathway. The highest number of meta-signature miRNAs was involved in the sphingolipid signaling pathway. Natural killer cell-mediated cytotoxicity was the pathway with most genes regulated by identified miRNAs. The rest of the enriched pathways in our miRNA list describe different malignancies and signaling. Conclusions: The identified miRNA meta-signature might be considered as a potential battery of biomarkers when distinguishing oral cancer tissue from normal, non-cancerous tissue. Further mechanistic studies are warranted in order to confirm and fully elucidate the role of deregulated miRNAs in oral cancer.
The Interactive Arabic Dictionary: Another Collaboratively Constructed Language Resource

Dictionaries are very essential resources that almost all Natural Language Processing (NLP) applications use. Since language is constantly evolving, new words or new meanings to current words continuously appear. In order to keep a dictionary up-to-date, an enrichment process is needed to incorporate new vocabularies. In the last decade, a new approach of resources construction has emerged based on the collaboration between different users on the Web. In this paper, we present the Interactive Arabic Dictionary (IAD): a monolingual web-based dictionary. Initially based on the “Almuajam Alwasseet” dictionary, IAD provides the different meanings of Arabic words, with specific morphological and syntactical information, in addition to other related information such as example sentences, multimedia illustrations, associated words, semantic domains, expressions, linguistic avails, common mistakes. Authorized users can collaboratively enrich the content of the dictionary through the use of a “controlled process” to add or modify entries, meanings, or any kind of detailed information related to them. This “controlled process” consists of a suggestion-validation procedure in order to maintain the integrity of the dictionary. This enrichment process will expand the dictionary content, allowing its future exploitation in high level NLP applications.
Stat3 and CCAAT enhancer–binding protein β (C/ebpβ) activate Fanconi C gene transcription during emergency granulopoiesis

Interferon consensus sequence–binding protein (Icsbp) is required for terminating emergency granulopoiesis, an episodic event responsible for granulocyte production in response to infections and a key component of the innate immune response. Icsbp inhibits the expression of Stat3 and C/ebpβ, transcription factors essential for initiating and sustaining granulopoiesis, and activates transcription of Fanconi C (FANCC), a DNA repair protein. In prior studies, we noted accelerated bone marrow failure in Fancc−/− mice undergoing multiple episodes of emergency granulopoiesis, associated with apoptosis of bone marrow cells with unrepaired DNA damage. Additionally, we found increased expression of Fanconi C and F proteins during emergency granulopoiesis. These findings suggest that Icsbp protects the bone marrow from DNA damage by increasing activity of the Fanconi DNA repair pathway, but the mechanisms for FANCC activation during initiation of emergency granulopoiesis are unclear. In this study, we observed that Stat3 and C/ebpβ activate FANCC transcription and contribute to DNA repair. Our findings indicate that FancC expression is increased during Stat3- and C/ebpβ-induced initiation of emergency granulopoiesis by these transcription factors and is maintained through termination by Icsbp. Our work reveals that Stat3- and C/ebpβ-mediated FancC expression is a critical component for initiating and sustaining key innate immune responses.
Activation of the methylation cycle in cells reprogrammed into a stem cell-like state

Generation of induced pluripotent stem (iPS) cells and cancer biogenesis share similar metabolic switches. Most studies have focused on how the establishment of a cancer-like glycolytic phenotype is necessary for the optimal routing of somatic cells for achieving stemness. However, relatively little effort has been dedicated towards elucidating how one-carbon (1C) metabolism is retuned during acquisition of stem cell identity. Here we used ultra-high pressure liquid chromatography coupled to an electrospray ionization source and a triple-quadrupole mass spectrometer [UHPLC-ESI-QqQ-MS/MS] to quantitatively examine the methionine/folate bi-cyclic 1C metabolome during nuclear reprogramming of somatic cells into iPS cells. iPS cells optimize the synthesis of the universal methyl donor S-adenosylmethionine (SAM), apparently augment the ability of the redox balance regulator NADPH in SAM biosynthesis, and greatly increase their methylation potential by triggering a high SAM:S-adenosylhomocysteine (SAH) ratio. Activation of the methylation cycle in iPS cells efficiently prevents the elevation of homocysteine (Hcy), which could alter global DNA methylation and induce mitochondrial toxicity, oxidative stress and inflammation. In this regard, the methyl donor choline is also strikingly accumulated in iPS cells, suggesting perhaps an overactive intersection of the de novo synthesis of choline with the methionine-Hcy cycle. Activation of methylogenesis and maintenance of an optimal SAM:Hcy ratio might represent an essential function of 1C metabolism to provide a labile pool of methyl groups and NADPH-dependent redox products required for successfully establishing and maintaining an embryonic-like DNA methylation imprint in stem cell states.
Comparison of Nutrition and Lung Function Outcomes in Patients with Cystic Fibrosis Living in Canada and the United States

Rationale: A 10‐year gap in the median age of survival for patients with cystic fibrosis (CF) was reported between patients living in Canada compared with patients living in the United States. Objectives: Because both malnutrition and poor lung function are associated with an increased risk of mortality in CF, we investigated the temporal and longitudinal trends in lung function and nutrition between Canada and the United States. Methods: This cohort study used Canadian CF Registry and U.S. CF Foundation Patient Registry data from 1990 to 2013. A unified dataset was created to harmonize the variables collected within the two registries for the purpose of comparing outcomes between the two countries. Measurements and Main Results: We conducted three analyses: survival differences by birth cohort; population trends for FEV1 and body mass index (BMI) over time; and individual patient FEV1 and BMI trajectories. The study included a total of 37,772 patients in the United States and 5,149 patients in Canada. Patients with CF experienced significant improvements in nutritional status and lung function in both Canada and the United States during the study. In addition, the survival gap between the two countries is narrowing within younger birth cohorts. The improvements for the patients within the United States were most prominent in the BMI trajectories, where patients born after 1990 in the United States have higher BMI that has persisted over time. Conclusions: The reasons for the observed improvements, and catch‐up in the United States, are likely multifactorial and include the introduction of high‐fat, high‐calorie diets; introduction of newborn screening; and/or improved access to care for CF children in the United States.
Chewing efficiency, bite force and oral health‐related quality of life with narrow diameter implants ‐ a prospective clinical study: results after one year

OBJECTIVE This prospective study aimed to investigate the evolution of chewing efficiency, maximum voluntary bite force (MBF) and oral health-related quality of life (OHRQoL) in edentulous patients treated with narrow diameter implants (NDIs) over the course of 1 year. MATERIALS AND METHODS Four NDIs (MDI® , 3M ESPE, diameter 1.8 mm) were placed interforaminally in 20 edentulous patients. They were immediately loaded by converting the existing prosthesis into an implant overdenture. Participants were examined six times pre- and postoperatively [baseline (BL) to week 52 (w52)]. Chewing efficiency was evaluated with a colour-mixing ability test by evaluation of the standard deviation of hue (VOH, ViewGum©). MBF was measured using a digital force gauge. OHRQoL was determined with the Oral Health Impact Profile (OHIPG49). Nonparametric Brunner-Langer models were applied for statistical testing. RESULTS The study failed to demonstrate an effect on chewing efficiency. MBF increased continuously during the observation period (medians: MBF[N]@BL = 46.6 [iqr 50.1]; MBF[N]@w52 = 103.9 [iqr 76.0]; P = 0.002). OHRQoL increased steeply after implant loading and continued improving (medians: BL ∑OHIPG49 = 31 [iqr 40.0]; w4 ∑OHIPG49 = 11.5 [iqr 19.5]; w52 ∑OHIPG49 = 6 [iqr 13.0], P < 0.001). CONCLUSIONS The stabilisation of a lower complete prosthesis with four NDIs is a feasible minimally invasive and economical approach to improve oral function and OHRQoL, especially in elderly patients with limited bone support. Functional benefits might be more evident if patients receive chewing instructions. Larger studies need to confirm a positive effect on chewing efficiency and develop long-term maintenance solutions if patients become frail because no easy downgrading approaches of one-piece titanium implants exist.
Low voltage imaging and X-ray microanalysis in the SEM: challenges and opportunities

Low voltage imaging, X-ray microanalysis and X-ray mapping has become very important for the investigation of nanomaterials and their surfaces. This is especially true for low voltage imaging of non-conductive samples and beam sensitive samples. Operating the SEM at lower accelerating voltage allows for greater surface sensitivity, the ability to minimize charging effects, nanometre scale lateral X-ray spatial resolution and nanoscale X-ray depth sensitivity. Determining the correct accelerating voltage for imaging in a SEM is dependent on the instrument's operating performance at low voltage, the material being viewed, and other factors that limit effectiveness of low voltage microanalysis, which will be discussed in this paper.
Vector Processing-Aware Advanced Clock-Gating Techniques for Low-Power Fused Multiply-Add

The need for power efficiency is driving a rethink of design decisions in processor architectures. While vector processors succeeded in the high-performance market in the past, they need a retailoring for the mobile market that they are entering now. Floating-point (FP) fused multiply-add (FMA), being a functional unit with high power consumption, deserves special attention. Although clock gating is a well-known method to reduce switching power in synchronous designs, there are unexplored opportunities for its application to vector processors, especially when considering active operating mode. In this research, we comprehensively identify, propose, and evaluate the most suitable clock-gating techniques for vector FMA units (VFUs). These techniques ensure power savings without jeopardizing the timing. We evaluate the proposed techniques using both synthetic and “real-world” application-based benchmarking. Using vector masking and vector multilane-aware clock gating, we report power reductions of up to 52%, assuming active VFU operating at the peak performance. Among other findings, we observe that vector instruction-based clock-gating techniques achieve power savings for all vector FP instructions. Finally, when evaluating all techniques together, using “real-world” benchmarking, the power reductions are up to 80%. Additionally, in accordance with processor design trends, we perform this research in a fully parameterizable and automated fashion.
Simultaneous Harvesting of Cancellous Iliac Bone for Alveolar Cleft Closure and Dermis for Augmentation of Median Tubercle

Children with repaired cleft lip/palate require secondary closure of the alveolar cleft and, often, nasolabial revision. We describe a technique performed in 61 patients for harvesting bone for the alveolar defect and dermis for augmentation of the median tubercle, taking both from the posterior iliac region. The advantages of the posterior approach are as follows: (1) the same donor site is used for cancellous bone and dermal graft and (2) the child's appearance is improved along with alveolar cleft grafting.
Experimental Manipulation of Melanism Demonstrates the Plasticity of Preferred Temperature in an Agricultural Pest (Phaulacridium vittatum)

Phenotypic plasticity is a key trait of successful pest species, and may increase the ability to cope with higher, more variable temperatures under climate change. We investigate the plasticity of preferred temperature in a widespread agricultural pest, the wingless grasshopper (Phaulacridium vittatum). Preferred temperature is a measure of thermoregulatory behaviour through habitat selection. It is influenced by melanism, which affects body temperature by determining the amount of radiation absorbed by the body. First we demonstrate that body temperature and preferred temperature in P. vittatum is influenced by melanism, by comparing the preferred temperature of the colour morphs in laboratory thermal gradients and field body temperatures in natural populations. We then test whether preferred temperature changes in response to changes in body temperature, by determining preferred temperature before and after manipulation of melanism by painting. When melanism was manipulated experimentally in live grasshoppers, preferred temperature changed to reflect the thermal qualities of the new colour. The preferred temperature of light grasshoppers increased after they were painted black, and decreased after being painted white. Similarly, dark individuals that were painted white behaved like a light individual, maintaining a lower body temperature. Preferred temperature in P.vittatum is a plastic thermoregulatory response to ambient temperature, mediated by the influence of melanism on body temperature.
Petrological Geodynamics of Mantle Melting II. AlphaMELTS + Multiphase Flow: Dynamic Fractional Melting

In this second installment of a series that aims to investigate the dynamic interaction between the composition and abundance of the solid mantle and its melt products, the classic interpretation of fractional melting is extended to account for the dynamic nature of the process. A multiphase numerical flow model is coupled with the program AlphaMELTS, which provides at the moment possibly the most accurate petrological description of melting based on thermodynamic principles. The conceptual idea of this study is based on a description of the melting process taking place along a 1-D vertical ideal column where chemical equilibrium is assumed to apply in two local sub-systems separately on some spatial and temporal scale. The solid mantle belongs to a local sub-system (ss1) that does not interact chemically with the melt reservoir which forms a second sub-system (ss2). The local melt products are transferred in the melt sub-system ss2 where the melt phase eventually can also crystallize into a different solid assemblage and will evolve dynamically. The main difference with the usual interpretation of fractional melting is that melt is not arbitrarily and instantaneously extracted from the mantle, but instead remains a dynamic component of the model, hence the process is named dynamic fractional melting (DFM). \\ Some of the conditions that may affect the DFM model are investigated in this study, in particular the effect of temperature, mantle velocity at the boundary of the mantle column. A comparison is made with the dynamic equilibrium melting (DEM) model discussed in the first installment. The implications of assuming passive flow or active flow are also considered to some extent. \\ Complete data files of most of the DFM simulations, four animations and two new DEM simulations (passive/active flow) are available following the instructions in the supplementary material. \\
PPARD is an Inhibitor of Cartilage Growth in External Ears

Peroxisome proliferator-activated receptor beta/delta (PPARD) is an important determinant of multiple biological processes. Our previous studies identified a missense mutation in the PPARD gene that significantly reduces its transcription activity, and consequently causes enlarged external ears in pigs. However, the mechanisms underlying the causality has remained largely unknown. Here, we show that PPARD retards the development of auricular cartilage by accelerating the apoptosis of cartilage stem/progenitor cells (CSPCs), the terminal differentiation of cartilage cells and the degradation of cartilage extracellular matrix in the auricle. At the transcription level, PPARD upregulates a set of genes that are associated with CSPCs apoptosis and chondrogenic differentiation, chondroblast differentiation and extracellular matrix degradation. ChIP-seq identified direct target genes of PPARD, including a well-documented gene for cartilage development: PPARG. We further show that compared to wild-type PPARD, the G32E mutant up-regulates the expression of PPARG and subsequently leads to the downregulation of critical genes that inhibit cartilage growth. These findings allow us to conclude that PPARD is an inhibitor of auricular cartilage growth in pigs. The causative mutation (G32E) in the PPARD gene attenuates the PPARD-mediated retardation of cartilage growth in the auricle, contributing to enlarged ears in pigs. The findings advance our understanding of the mechanisms underlying auricular development in mammals, and shed insight into the studies of innate pinna disorders and cartilage regeneration medicine in humans.
Photoacoustic imaging using genetically encoded reporters: a review

Abstract. Genetically encoded contrast in photoacoustic imaging (PAI) is complementary to the intrinsic contrast provided by endogenous absorbing chromophores such as hemoglobin. The use of reporter genes expressing absorbing proteins opens the possibility of visualizing dynamic cellular and molecular processes. This is an enticing prospect but brings with it challenges and limitations associated with generating and detecting different types of reporters. The purpose of this review is to compare existing PAI reporters and signal detection strategies, thereby offering a practical guide, particularly for the nonbiologist, to choosing the most appropriate reporter for maximum sensitivity in the biological and technological system of interest.