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Future wireless communications are expected to serve a wide range of emerging applications, such as Online Gaming, Extended Reality (XR), Metaverses, Healthcare or Telemetry, where communication from diverse connected Internet of Things (IoT) devices require not only stringent conditions such as ultra-reliability and low-latency communication (URLLC) together with high bandwidth but also concerns about content security as well as copyright protection. To deal with URLLC demands, Short-Packet Communication (SPC) has been recently considered a vital solution. Meanwhile, to meet high spectrum utilization, Non-Orthogonal Multiple Access (NOMA) has emerged as a potential technology in the last decade, for its ability to serve multi-user communication simultaneously by exploiting power-domain rather than time or frequency domains. Especially, incorporating Reconfigurable Intelligent Surfaces (RIS) with NOMA/SPC-based systems can further boost the system’s spectral efficiency as well as enhance communication coverage. However, NOMA-based systems hugely demand a reliable user-paring process, which imposes challenges in ensuring secure short-packet delivery for emerging IoT applications. Hence, this paper studies downlink RIS-assisted short-packet NOMA systems with the focus of improving the secure performance of the pairing process with untrusted users. Our primary innovation lies in developing an arbitrary user-pairing strategy for NOMA-based systems to secure short-packet delivery for IoT applications by jointly designing the power allocation policy and RIS’s phase shifter. In this strategy, untrustworthy users will be allocated higher power levels than trustworthy users, while the latter will be configured with sub-optimal phase shift criteria at RIS to maximize its cascaded channel gain. On this foundation, we derive closed-form expressions for the average block-error rate (BLER) to analyze the performance of trustworthy users as well as the average secure BLER to quantify the secure performance when untrustworthy users wiretap trustworthy users’ information using successive interference mechanisms. Moreover, we further develop asymptotic expressions for both cases to measure the diversity gain and induce key parameters. Subsequently, Monte Carlo simulations are provided as a benchmark to corroborate the theoretical findings. This demonstrates that our work can offer a groundbreaking solution for secure and efficient wireless communication, which can also be applied to digital content protection, such as gaming.

Tung Nguyen Thanh,1,* Duc Minh Nguyen,2,* Tuan Dinh Le,3 Lan Ngoc Do,1 Son Tien Nguyen,3 Phuong Nguyen Minh,1 Phong Nguyen Van,4 Tien Minh Bui,5 Tuyen Thanh Thi Bui,5 Hung Nguyen Dao,6 Kien Trung Nguyen5 1Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 10000, Vietnam; 2Andrology and Fertility Hospital of Hanoi, Hanoi, 10000, Vietnam; 3Department of Rheumatology and Endocrinology, Military Hospital 103, Vietnam Military Medical University, Hanoi, 10000, Vietnam; 4Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, 10000, Vietnam; 5Department of Obstetrics and Gynecology, Thai Binh University of Medicine and Pharmacy, Thai Binh, 410000, Vietnam; 6Department of Obstetrics and Gynecology, Military Hospital 103, Vietnam Military Medical University, Hanoi, Vietnam*These authors contributed equally to this workCorrespondence: Kien Trung Nguyen, Department of Obstetrics and Gynecology, Thai Binh University of Medicine and Pharmacy, Thai Binh, 410000, Vietnam, Tel +84989281982, Email trungkiendhytb@gmail.comBackground: To assess the relationship between oocytes with smooth endoplasmic reticulum cluster (SERc) and embryological and birth outcomes in infertile couples.Methods: This was a descriptive study that included 231 infertile patients undergoing in vitro fertilization (IVF) with a total of 2447 mature oocytes (MII), of which 279 oocytes with SERc(+) from 100 patients, the remaining 2168 oocytes with SERc(-). Oocytes were evaluated for the presence or absence of the SERc simultaneously with intracytoplasmic sperm injection at 200x magnification using inverted microscopy – Observe D1.Results: The mean age of patients was 32.05 ± 5.56 years. One hundred patients had at least one SERc(+) oocyte (with 279 SERc(+) and 956 SERc(-) oocytes). One hundred and thirty-one patients had 1212 SERc(-) oocytes. Fertilization outcomes and the rates of good-quality embryos on day 2 and day 5 did not differ between the SERc(+) and the SERc(-) groups. In the first frozen embryo transfer cycles, the clinical pregnancy rate in the group of patients with SERc(+) was not different with the SERc(-) group (61.1% vs 48.78%, p = 0.074, respectively). The live birth rate in the SERc(+) group was statistically significantly higher than the SERc(-) group (57.7% vs 43.9%, p = 0.045, respectively).Conclusion: The fertilization rate, the quality of embryos on days 2 and 5 from oocytes with SERc(+) are similar to those with SERc(-). The live birth rate in the patients with SERc(+) group is statistically significantly higher than the SERc(-) group. There is no difference in clinical pregnancy rate between patients with and without SERc. Therefore, the exclusion of oocytes with SERc should not be recommended.Keywords: Smooth reticulum endoplasmic cluster, SERc, Intracytoplasmic sperm injection, In vitro fertilization, IVF

Abstract Background Over the past several decades, the use of biochemical and fluorescent tags has elucidated mechanistic and cytological processes that would otherwise be impossible. The challenging nature of certain nuclear proteins includes low abundancy, poor antibody recognition, and transient dynamics. One approach to get around those issues is the addition of a peptide or larger protein tag to the target protein to improve enrichment, purification, and visualization. However, many of these studies were done under the assumption that tagged proteins can fully recapitulate native protein function. Results We report that when C-terminally TAP-tagged CENP-A histone variant is introduced, it undergoes altered kinetochore protein binding, differs in post-translational modifications (PTMs), utilizes histone chaperones that differ from that of native CENP-A, and can partially displace native CENP-A in human cells. Additionally, these tagged CENP-A-containing nucleosomes have reduced centromeric incorporation at early G1 phase and poorly associates with linker histone H1.5 compared to native CENP-A nucleosomes. Conclusions These data suggest expressing tagged versions of histone variant CENP-A may result in unexpected utilization of non-native pathways, thereby altering the biological function of the histone variant.

Abstract Background The prevalence of depression among people with chronic pain remains unclear due to the heterogeneity of study samples and definitions of depression. We aimed to identify sources of variation in the prevalence of depression among people with chronic pain and generate clinical prediction models to estimate the probability of depression among individuals with chronic pain. Methods Participants were from the UK Biobank. The primary outcome was a “lifetime” history of depression. The model’s performance was evaluated using discrimination (optimism-corrected C statistic) and calibration (calibration plot). Results Analyses included 24,405 patients with chronic pain (mean age 64.1 years). Among participants with chronic widespread pain, the prevalence of having a “lifetime” history of depression was 45.7% and varied (25.0–66.7%) depending on patient characteristics. The final clinical prediction model (optimism-corrected C statistic: 0.66; good calibration on the calibration plot) included age, BMI, smoking status, physical activity, socioeconomic status, gender, history of asthma, history of heart failure, and history of peripheral artery disease. Among participants with chronic regional pain, the prevalence of having a “lifetime” history of depression was 30.2% and varied (21.4–70.6%) depending on patient characteristics. The final clinical prediction model (optimism-corrected C statistic: 0.65; good calibration on the calibration plot) included age, gender, nature of pain, smoking status, regular opioid use, history of asthma, pain location that bothers you most, and BMI. Conclusions There was substantial variability in the prevalence of depression among patients with chronic pain. Clinically relevant factors were selected to develop prediction models. Clinicians can use these models to assess patients’ treatment needs. These predictors are convenient to collect during daily practice, making it easy for busy clinicians to use them.

Tung Nguyen Thanh,1 Sang Trieu Tien,2 Phong Nguyen Van,2 Son Dang Thai,3 Thuc Luong Cong,4 Tuan Dinh Le,5 Son Tien Nguyen,5 Tuan Tran Van,1 Hoang Huy Duong,6 Tien Minh Bui,7 Kien Trung Nguyen7 1Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 100000, Vietnam; 2Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, 100000, Vietnam; 3Institute of Biological and Food Technology, Hanoi Open University, Hanoi, 100000, Vietnam; 4Cardiovascular Center, Military Hospital 103, Vietnam Military Medical University, Hanoi, 100000, Vietnam; 5Department of Rheumatology and Endocrinology, Military Hospital 103, Vietnam Military Medical University, Hanoi, 100000, Vietnam; 6Department of Neurology, Thai Binh University of Medicine and Pharmacy, Thai Binh, 410000, Vietnam; 7Department of Obstetrics and Gynecology, Thai Binh University of Medicine and Pharmacy, Thai Binh, 410000, VietnamCorrespondence: Sang Trieu Tien, Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, 100000, Vietnam, Email trieusangk83@yahoo.com.vnBackground: To optimize the multiplex polymerase chain reaction (M-PCR) technique to diagnose microdeletions of azoospermia factors (AZF) on the Y chromosome and initially apply the technique to diagnose male patients with sperm density less than 5× 106 million sperm/mL was assigned to do a test to check for AZF microdeletions on the Y chromosome.Methods: Based on the positive control samples which belong to male subjects who have had 2 healthy children without any assisted reproductive technologies, the M-PCR method was developed to detect simultaneously and accurately AZF microdeletions on 32 male patients with sperm densities below 5× 106 million sperm/mL of semen at the Department of Biology and Medical Genetics – Vietnam Military Medical University.Results: Successful optimization of the M-PCR technique including 7 reactions arranged according to each AZFabc region using 24 STS/gene on the Y chromosome. Initial application to diagnose AZF deletion on 32 azoospermic and oligospermic men reveals that AZFa deletion accounts for 6.25% (2/32); deletion of all 3 regions AZFa,b,c with 18.75% (6/32 cases); The combined deletion rate of AZFb,c is highest, accounting for 56.24% (18/32 patients).Conclusion: Successfully optimized the M-PCR technique in identifying AZF microdeletions using 24 sequence tagged sites (STS)/gene for azoospermic and oligozoospermic men. The M-PCR technique has great potential in the application of AZF deletion diagnosis.Keywords: male infertility, azoospermia factors, AZF, multiplex polymerase chain reaction, M-PCR, sequence tagged sites, STS

ABSTRACTThe average transmit power and coverage probability (Pcov) of uplink energy harvesting-enabled long-range networks are investigated in the present paper. Particularly, we model the end-device (EDs) according to the homogeneous Poisson point process while the power beacon is randomly distributed on the circle in the middle of the network. All EDs rely on the harvested energy to perform their operations and transmissions. Under this context, the upper bound of the average transmit power of an end-device is derived in the closed-form expression. The signal-to-noise-ratio condition of the coverage probability is given in the closed-form expression as well. Simulation results are provided to corroborate the accuracy of the derived mathematical framework as well as to feature the impact of some key parameters on the considered metrics. Our findings unveil that increasing either the number of power beacons or their transmit power will monotonically ameliorate the Pcov. Nevertheless, rising the average number of EDs will significantly decline the Pcov's performance.

Ferroptosis, a lipid peroxidation-driven cell death program kept in check by glutathione peroxidase 4 and endogenous redox cycles, promises access to novel strategies for treating therapy-resistant cancers. Chlorido [N,N′-disalicylidene-1,2-phenylenediamine]iron (III) complexes (SCs) have potent anti-cancer properties by inducing ferroptosis, apoptosis, or necroptosis through still poorly understood molecular mechanisms. Here, we show that SCs preferentially induce ferroptosis over other cell death programs in triple-negative breast cancer cells (LC50 ≥ 0.07 μM) and are particularly effective against cell lines with acquired invasiveness, chemo- or radioresistance. Redox lipidomics reveals that initiation of cell death is associated with extensive (hydroper)oxidation of arachidonic acid and adrenic acid in membrane phospholipids, specifically phosphatidylethanolamines and phosphatidylinositols, with SCs outperforming established ferroptosis inducers. Mechanistically, SCs effectively catalyze one-electron transfer reactions, likely via a redox cycle involving the reduction of Fe(III) to Fe(II) species and reversible formation of oxo-bridged dimeric complexes, as supported by cyclic voltammetry. As a result, SCs can use hydrogen peroxide to generate organic radicals but not hydroxyl radicals and oxidize membrane phospholipids and (membrane-)protective factors such as NADPH, which is depleted from cells. We conclude that SCs catalyze specific redox reactions that drive membrane peroxidation while interfering with the ability of cells, including therapy-resistant cancer cells, to detoxify phospholipid hydroperoxides.

Abstract Background Mammogram risk scores based on texture and density defined by different brightness thresholds are associated with breast cancer risk differently and could reveal distinct information about breast cancer risk. We aimed to investigate causal relationships between these intercorrelated mammogram risk scores to determine their relevance to breast cancer aetiology. Methods We used digitised mammograms for 371 monozygotic twin pairs, aged 40–70 years without a prior diagnosis of breast cancer at the time of mammography, from the Australian Mammographic Density Twins and Sisters Study. We generated normalised, age-adjusted, and standardised risk scores based on textures using the Cirrus algorithm and on three spatially independent dense areas defined by increasing brightness threshold: light areas, bright areas, and brightest areas. Causal inference was made using the Inference about Causation from Examination of FAmilial CONfounding (ICE FALCON) method. Results The mammogram risk scores were correlated within twin pairs and with each other (r = 0.22–0.81; all P

Ternary Content-Addressable Memory (TCAM) is one of the most effective methods for high-speed data searching in networking infrastructure. Despite the excellent performance and large look-up table, application-specific integrated- circuit-based TCAMs cost massive power supply and are challenging to configure. Field-Programmable Gate Arrays (FPGAs) have become the alternative solution for integrating TCAM due to their minimal power consumption and reconfigurability. Methods using on-chip registers, BRAMs, or LUTRAMs to implement large-size TCAM suffer excessive resource consumption. Researchers introduced DDR-SDRAM-based CAM to provide high-performance and economic packet inspections to overcome such issues; however, they only support binary look-up. This paper presents a novel algorithmic Data-Collision TCAM architecture on FPGA for SDRAM compatibility. The proposed SDRAM- based TCAM supports ternary value look-up function for practical Ethernet packet processing. The architecture outperforms conventional TCAMs regarding BRAMs, logics consumption, and look-up table sizes. The proposed architecture is the first SDRAM-based TCAM on FPGA with a 128Mbyte look-up table.

Here, the authors provide a longitudinal genetic surveillance of the antimicrobial resistance potential of the human oral microbiome in the first decade of life, revealing a dynamic environment altered by tooth decay with the increasing potential to mobilize genes as children grow.

Abstract Background Commonly applied diagnostic criteria for growing pains (GP) have evolved without determination by an authoritative representative body. GP and restless legs syndrome (RLS) share anatomical, distributional, temporal, and other clinical features and are associated in individuals over time, in families, and in population samples. In this study, we tested the hypothesis that GP, diagnosed by widely used criteria, is confounded by cases of painful restless legs syndrome (RLS‐Painful). Methods A twin family study of genetic influence and associations of GP using questionnaires was administered by Twins Research Australia. Twins (3–18 years; monozygous 503, dizygous 513), their oldest siblings, mothers, and fathers were randomly selected from the twin registry. Family members completed the questionnaires assessing lifetime prevalence of GP by commonly applied criteria and covariates including the history of iron deficiency and pediatric pain disorders. A GP‐Specific phenotype was defined as GP without urge to move the legs. We determined similarities in twin pairs for the GP and GP‐Specific phenotypes, family associations, and estimated familial and individual‐specific associations for each phenotype. Results Lifetime prevalence was one‐third lower for GP‐Specific than for GP among the twin and family members. Monozygous twin pairs were more similar than dizygous twin pairs for GP and for the derived GP‐Specific phenotype by three methods, consistent with genetic influence. There were familial associations, but the essential evidence for genetic influence was the twin‐cotwin data. GP was associated, in multivariable analyses, with migraine, headaches, recurrent abdominal pain, and iron deficiency, while GP‐Specific associations were limited to migraine and headaches. Conclusions GP is hybrid, one‐third of cases having symptoms and associations of RLS, necessarily RLS‐Painful. GP‐Specific (without symptoms and associations of RLS) could have a genetic etiology. We propose new criteria to facilitate etiological and therapeutic research.

Purpose: Clear understanding of mental health phenotypes and associated socioeconomic, physical health and well-being impacts in adult women with an FMR1 premutation (PM) is needed for counseling and primary healthcare. Methods: A questionnaire captured mental health conditions in women with a PM, using lifetime diagnosis and nested psychometric scales (Liebowitz Social Anxiety Scale; Depression and Anxiety Stress Scale). Socioeconomic, physical health and well-being data were entered into 2 multivariable logistic regression models (1 with depression status as the outcome variable and 1 with social anxiety as the outcome). Results: 137 participants were included. Depression was found in ∼30% and social anxiety in ∼38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome, and self-reported hearing loss symptoms. With social anxiety status as the outcome, strongest associations were with education, migraine, irritable bowel syndrome, relationship status, and subjective memory complaints. Conclusion: Mental health impacts were found in more than 1 in 3 women. Poor mental health was significantly associated with socioeconomic and physical health factors. Findings may inform health care professionals about personalized treatment options for women with a PM.

Fingerprinting techniques, which utilize the unique chemical and physical properties of food samples, have emerged as a promising approach for food authentication and traceability. Recent studies have demonstrated significant advancements in food authentication through the use of fingerprinting methods, such as multivariate statistical analysis techniques applied to trace elements and isotope ratios. However, further research is required to optimize these methods and ensure their validity and reliability in real-world applications. In this study, the inductively coupled plasma mass spectrometry (ICP-MS) analytical method was employed to determine the content of 21 elements in 300 cashew nut (Anacardium occidentale L.) samples from 5 brands. Multivariate statistical methods, such as principal components analysis (PCA), were employed to analyze the data obtained and establish the provenance of the cashew nuts. While cashew nuts are widely marketed in many countries, no universal method has been utilized to differentiate the origin of these nuts. Our study represents the initial step in identifying the geographical origin of commercial cashew nuts marketed in Vietnam. The analysis showed significant differences in the means of 21 of the 40 analyzed elements among the cashew nut samples from the 5 brands, including 7Li, 11B, 24Mg, 27Al, 44Ca, 48Ti, 51V, 52Cr, 55Mn, 57Fe, 60Ni, 63Cu, 66Zn, 93Nb, 98Mo, 111Cd, 115In, 121Sb, 138Ba, 208Pb, and 209Bi. The PCA analysis indicated that the cashew nut samples can be accurately classified according to their original locations. This research serves as a prerequisite for future studies involving the combination of elemental composition analysis with statistical classification methods for the accurate establishment of cashew nut provenance, which involves the identification of key markers for the original discrimination of cashew nuts.

Self-reconfigurable robots present advanced solutions for various automation applications in domains, e.g., planetary exploration, rescue missions, cleaning, and maintenance. These robots have the ability to change their morphology according to given requirements or adapt to new circumstances, which, for example, can overcome constraints while navigating within a working environment. However, the autonomous navigation of self-reconfigurable robots is more complex than that of robots with fixed shape because of the intrinsic complexity of robot motions, especially in complicated obstacle environments. To address this challenge, we present a novel path planning method for reconfigurable robots in this study. The technique is inspired by the similarity between a robot motion path and a heat conduction path at the steady-state. In the heat transfer analysis domain, feasible moving locations are modeled as materials with high conductivity, while obstacles are considered thermal insulators, and the initial and destination positions are assigned as heat sink and heat source, respectively. The temperature profile and gradient calculated by finite element analysis are used to indicate the possible moving directions from the heat sink to the heat source. Based on the temperature gradient ascent, a step-wise conductivity reaching algorithm is developed to optimize robot paths using customized multi-objective functions that take the costs of morphology changes, path smoothness, and safety into account. The proposed path planning method is successfully applied to the hinged-tetro self-reconfigurable robot and demonstrated on several virtual environments and a real-world testbed environment.

This twin family study first aimed to investigate the evidence for genetic factors predicting the risk of lifetime prevalence of non-specific low back pain of at least three months duration (LBP (life)) and one-month current prevalence of thoracolumbar back pain (TLBP (current)) using a study of children, adolescents, and their first-degree relatives. Secondly, the study aimed to identify associations between pain in the back with pain in other regions and also with other conditions of interest. Randomly selected families (n = 2479) with child or adolescent twin pairs and their biological parents and first siblings were approached by Twins Research Australia. There were 651 complete twin pairs aged 6–20 years (response 26%). Casewise concordance, correlation, and odds ratios were compared for monozygous (MZ) and dizygous (DZ) pairs to enable inference about the potential existence of genetic vulnerability. Multivariable random effects logistic regression was used to estimate associations between LBP (life) or TLBP (current) as an outcome with the potentially relevant condition as predictors. The MZ pairs were more similar than the DZ pairs for each of the back pain conditions (all p values < 0.02). Both back pain conditions were associated with pain in multiple sites and with primary pain and other conditions using the combined twin and sibling sample (n = 1382). Data were consistent with the existence of genetic influences on the pain measures under the equal environments assumption of the classic twin model and associations with both categories of back pain were consistent with primary pain conditions and syndromes of childhood and adolescence which has research and clinical implications.

Background: We aimed to quantify the association between chronic musculoskeletal pain and all-cause mortality, and to investigate the extent to which this association is mediated by physical activity, smoking status, alcohol consumption, and opioid use. Methods: For this population-based cohort study, we used data from UK Biobank, UK between baseline visit (2006–2010) to 18th December 2020. We assessed the associations between chronic musculoskeletal pain and all-cause mortality using a Cox proportional hazards model. We performed causal mediation analyses to examine the proportion of the association between chronic musculoskeletal pain and all-cause mortality. Findings: Of the 384,367 included participants, a total of 187,269 participants reported chronic musculoskeletal pain. Higher number of pain sites was associated with increased risk of all-cause mortality compared to having no pain (e.g., four sites vs no site of pain, Hazard Ratio [HR] 1.46, 95% Confidence Interval [CI] 1.35 to 1.57). The multiple mediator analyses showed that the mediating proportions of all four mediators ranged from 53.4% to 122.6%: among participants with two or more pain sites, the effect estimate reduced substantially, for example, HR reduced from 1.25 (95% CI: 1.21 to 1.30; two pain sites) to 1.07 (95% CI: 1.01 to 1.11; two pain sites). Interpretation: We found that higher number of pain sites was associated with increased risk of all-cause mortality compared to having no pain, and at least half of the association of chronic musculoskeletal pain with increased all-cause mortality may be accounted for by four mediators. Funding: Twins Research Australia.

Abstract Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55–199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. Methods This study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition was used to examine ASD features while the Aberrant Behavior Checklist-Community assessed maladaptive behaviours. Results Comparing males and females (FM-only + PM/FM mosaic), males had poorer intellectual functioning on all domains (p < 0.0001). Although females had less ASD features and less parent-reported maladaptive behaviours, these differences were no longer significant after controlling for intellectual functioning. Participants with PM/FM mosaicism, regardless of sex, presented with better intellectual functioning and less maladaptive behaviours compared with their age- and sex-matched FM-only counterparts (p < 0.05). ASD features were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning. Conclusions Males with FXS had significantly lower intellectual functioning than females with FXS. However, there were no significant differences in ASD features and maladaptive behaviours, after controlling for intellectual functioning, independent of the presence or absence of mosaicism. This suggests that interventions that primarily target cognitive abilities may in turn reduce the severity of maladaptive behaviours including ASD features in FXS.

This article, co-written by several dance movement therapy professionals in Asia, gives an overview of the history, training, professional association, professional practice, research, strengths and challenges of dance movement therapy in Asia – particularly in East Asia and Southeast Asia. Some cultural reflections are included to offer the Asian perspectives.

Abstract Background Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutation (PM: 55–199 CGGs), is not uncommon. Importantly, both PM and active full mutation (FM: ≥ 200 CGGs) alleles often express elevated levels of mRNA that are thought to be toxic. This study determined if complete FMR1 mRNA silencing from FM alleles and/or levels of FMR1 mRNA (if present) in blood are associated with intellectual functioning and autism features in FXS. Methods The study cohort included 98 participants (70.4% male) with FXS (FM-only and PM/FM mosaic) aged 1–43 years. A control group of 14 females were used to establish control FMR1 mRNA reference range. Intellectual functioning and autism features were assessed using the Mullen Scales of Early Learning or an age-appropriate Wechsler Scale and the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2), respectively. FMR1 mRNA was analysed in venous blood collected at the time of assessments, using the real-time PCR relative standard curve method. Results Females with FXS had significantly higher levels of FMR1 mRNA (p

Rapid urbanization has led to increased environmental pollution in Vietnam, especially air pollution issues. In this study, we used gas chromatography-mass spectrometry with an automated identification and quantification system database to detect and quantitate compounds in atmospheric fine particulate matter (PM2.5). A total of 288 compounds classified in 19 pollutant categories based on their origins were detected in PM2.5 samples collected in three areas of Hanoi during winter. The total content of substances detected ranged from 41.08 to 795.00 ng.m−3. The characteristics and concentrations of organic pollutants differed among the industrial, urban, and agricultural sampling areas, with average concentrations of 179.00, 112.10, and 529.40 ng.m−3, respectively. In this comprehensive study on trace organic compounds conducted with samples collected at three sites, we investigating the basic impact of three main factors on the environment. This study contributes to the literature by providing a data set on the content of trace organic substances in the air at the study site.

Partial shading conditions (PSC) have negative effects on the operation of photovoltaic (PV) systems. In this paper, a PV array reconfiguration method is developed to minimize power losses of PV arrays under partial shading conditions. The proposed reconfiguration method is based on equalizing the reduction of the short-circuit current of the PV modules in the PV array. Eight state-of-the-art Convolutional Neural Network models are employed to estimate the effect of shading on the short-circuit current of a PV module. These models include LeNet-5, AlexNet, VGG 11, VGG 19, Inception V3, ResNet 18, ResNet 34, and ResNet 50. Among eight models, the VGG 19 achieves the best accuracy on 1842 sample images. Therefore, this model is used to estimate the ratio of the actual short-circuit current and the estimated short-circuit current in four studied shading scenarios. This ratio decides the switching rule between PV modules throughout the PV array under PSC. A 2×2 experimental PV array shows that the proposed reconfiguration method improves the output power from 5.81% to 25.19% in four shading patterns. Accordingly, the power losses are reduced from 1.32% to 13.75%. The power improvement and the reduction of power losses of the proposed dynamic PV array reconfiguration system under four case studies demonstrates its effectiveness in addressing the effects of PSC on the PV array.

Inductively coupled plasma mass spectrometry (ICP-MS) analytical method was used to determine the content of 40 elements in 38 soybean samples (Glycine Max) from 4 countries. Multivariate statistical methods, such as principal components analysis (PCA), were performed to analyze the obtained data to establish the provenance of the soybeans. Although soybean is widely marketed in many countries, no universal method is used to discriminate the origin of these cereals. Our study introduced the initial step to the identification of the geographical origin of commercial soybean marketed in Vietnam. The analysis pointed out that there are significant differences in the mean of 33 of the 40 analyzed elements among 4 countries’ soybean samples, namely, 11B, 27Al, 44Ca, 45Sc, 47Ti, 55Mn, 56Fe, 59Co, 60Ni, 63Cu, 66Zn, 69Ga, 75As, 78Se, 85Rb, 88Sr, 89Y, 90Zr, 93Nb, 95Mo, 103Rh, 137Ba, 163Dy, 165Ho, 175Lu, 178Hf, 181Ta, 182W, 185Re, 197Au, 202Hg, 205Tl, and 208Pb. The PCA analysis showed that the soybean samples can be classified correctly according to their original locations. This research can be used as a prerequisite for future studies of using the combination of elemental composition analysis with statistical classification methods for an accurate provenance establishment of soybean, which determined a variation of key markers for the original discrimination of soybean.

ABSTRACT It is not known whether the relationships of lean mass (LM) and fat mass (FM) with bone microarchitecture and geometry are causal and/or are because of confounders, including familial confounders arising from genetic and environment effects shared by relatives. We tested the hypotheses that: (i) LM is associated with cortical bone traits, (ii) FM is associated with trabecular bone traits, and (iii) these relationships of LM and FM with bone microarchitecture and geometry have a causal component. Total body composition was quantified for 98 monozygotic (MZ) and 54 dizygotic (DZ) white female twin pairs aged 31 to 77 years. Microarchitecture at the distal tibia and distal radius was quantified using HRpQCT and StrAx software. We applied the Inference about Causation through Examination of FAmiliaL CONfounding (ICE FALCON) method. Within‐individuals, distal tibia total bone area, cortical area, cortical thickness, and trabecular number were positively associated with LM (standardized regression coefficient (β) = 0.13 to 0.43; all p

Abstract Background Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. Methods This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. Results Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. Conclusions PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.

Abstract Background Smoking has been reported to be associated with peripheral blood DNA methylation, but the causal aspects of the association have rarely been investigated. We aimed to investigate the association and underlying causation between smoking and blood methylation. Methods The methylation profile of DNA from the peripheral blood, collected as dried blood spots stored on Guthrie cards, was measured for 479 Australian women including 66 monozygotic twin pairs, 66 dizygotic twin pairs, and 215 sisters of twins from 130 twin families using the Infinium HumanMethylation450K BeadChip array. Linear regression was used to estimate associations between methylation at ~ 410,000 cytosine-guanine dinucleotides (CpGs) and smoking status. A regression-based methodology for twins, Inference about Causation through Examination of Familial Confounding (ICE FALCON), was used to assess putative causation. Results At a 5% false discovery rate, 39 CpGs located at 27 loci, including previously reported AHRR, F2RL3, 2q37.1 and 6p21.33, were found to be differentially methylated across never, former and current smokers. For all 39 CpG sites, current smokers had the lowest methylation level. Our study provides the first replication for two previously reported CpG sites, cg06226150 (SLC2A4RG) and cg21733098 (12q24.32). From the ICE FALCON analysis with smoking status as the predictor and methylation score as the outcome, a woman’s methylation score was associated with her co-twin’s smoking status, and the association attenuated towards the null conditioning on her own smoking status, consistent with smoking status causing changes in methylation. To the contrary, using methylation score as the predictor and smoking status as the outcome, a woman’s smoking status was not associated with her co-twin’s methylation score, consistent with changes in methylation not causing smoking status. Conclusions For middle-aged women, peripheral blood DNA methylation at several genomic locations is associated with smoking. Our study suggests that smoking has a causal effect on peripheral blood DNA methylation, but not vice versa.

Abstract Background Posttranslational modifications of core histones are correlated with changes in transcriptional status, chromatin fiber folding, and nucleosome dynamics. However, within the centromere-specific histone H3 variant CENP-A, few modifications have been reported, and their functions remain largely unexplored. In this multidisciplinary report, we utilize in silico computational and in vivo approaches to dissect lysine 124 of human CENP-A, which was previously reported to be acetylated in advance of replication. Results Computational modeling demonstrates that acetylation of K124 causes tightening of the histone core and hinders accessibility to its C-terminus, which in turn diminishes CENP-C binding. Additionally, CENP-A K124ac/H4 K79ac containing nucleosomes are prone to DNA sliding. In vivo experiments using a CENP-A acetyl or unacetylatable mimic (K124Q and K124A, respectively) reveal alterations in CENP-C levels and a modest increase in mitotic errors. Furthermore, mutation of K124 results in alterations in centromeric replication timing. Purification of native CENP-A proteins followed by mass spectrometry analysis reveals that while CENP-A K124 is acetylated at G1/S, it switches to monomethylation during early S and mid-S phases. Finally, we provide evidence implicating the histone acetyltransferase (HAT) p300 in this cycle. Conclusions Taken together, our data suggest that cyclical modifications within the CENP-A nucleosome contribute to the binding of key kinetochore proteins, the integrity of mitosis, and centromeric replication. These data support the paradigm that modifications in histone variants can influence key biological processes.

The conversion of brown grease using pyrolysis reactions represents a very promising option for the production of renewable fuels and chemicals. Brown grease forms a mixture of alkanes, alkenes, and ketones at a temperature above 300°C at atmospheric pressure. This work is a computational study of the detailed reaction mechanisms of brown grease pyrolysis using DFT methodology. Prior experimental investigations confirmed product formation consistent with a set of radical reactions with CO2 elimination, as well as ketone by product formation, CO forming reactions, and formation of alcohols and aldehydes as minor byproducts. In this work, computational quantum chemistry was used to explore these reactions in greater detail. Particularly, a nonradical pathway formed ketone byproducts via the ketene, which we refer to as Pathways A1 and A2. Radical formation by thermal decomposition of unsaturated fatty acids initiates a set of reactions which eliminate CO2, regenerating alkyl radicals leading to hydrocarbon products (Pathway B). A third pathway (Pathway C) is an alternative set of radical reactions, resulting in decarbonylation and formation of minor byproducts. The results of the calculations are in good agreement with recent experimental studies.

The primary pain disorders of childhood are highly prevalent but have infrequently been studied collectively. Genetic influences have been suggested to be causally implicated. Surveys were sent to 3909 Australian twin families, assessing the lifetime prevalence of growing pains, migraine, headache, recurrent abdominal pain, low back pain, and persistent pain (not otherwise specified) in pediatric twins and their immediate family members. Comparisons between monozygous (MZ) and dizygous (DZ) twin pair correlations, concordances and odds ratios were performed to assess the contribution of additive genetic influences. Random-effects logistic regression modelling was used to evaluate relationships between twin individuals and their co-twins, mothers, fathers and oldest siblings with the subject conditions. Twin analyses of responses from 1016 families revealed significant influence of additive genetic effects on the presence of growing pains, migraine, and recurrent abdominal pain. The analyses for headache, low back pain, and persistent pain overall did not conclusively demonstrate that genetic influences were implicated more than shared environmental factors. Regression analyses demonstrated varying levels of significance in relationships between family members and twin individuals for the tested conditions, with strongest support for genetic influences in growing pains and migraine. These data, together with previously published association analyses, suggest common causal influences including genes.

CVD is common in older adults. Consumption of ‘meat’ (beef, pork, lamb, game, poultry, seafood, eggs) and dairy foods (milk, cheese, yoghurt) is encouraged in older adults as these foods provide protein and nutrients such as essential fatty acids, Ca, Fe, Zn and vitamins A, D and B12 required for healthy ageing. However, these foods also contain saturated fats considered detrimental to cardiovascular health. To determine the effect of their consumption on CVD risk we assessed associations between fat intake from ‘meat’ and dairy foods and serum cholesterol levels in 226 aged-care residents (mean age 85·5 years, 70 % female). Dietary intake was determined over 2 d using visual estimation of plate waste. Fat content of foods was determined using nutrition analysis software (Xyris, Australia). Fasting serum total cholesterol (TC), LDL-cholesterol and HDL-cholesterol were measured, and the TC:HDL-cholesterol ratio calculated. Associations were determined using random-effect models adjusted for CVD risk factors using STATA/IC 13.0. Total fat and saturated fat from ‘meat’ and dairy foods were associated with higher serum HDL-cholesterol levels, and dairy fat intake and number of servings were associated with a lower TC:HDL-cholesterol ratio. Every 10 g higher intake of fat and saturated fat from dairy products, and each additional serving was associated with a −0·375 (95 % CI −0·574, −0·175; P = 0·0002), a −0·525 (95 % CI −0·834, −0·213; P = 0·001) and a −0·245 (95 % CI −0·458, −0·033; P = 0·024) lower TC:HDL-cholesterol ratio, respectively. Provision of dairy foods and ‘meat’ in recommended amounts to institutionalised older adults potentially improves intakes of key nutrients with limited detriment to cardiovascular health.

MOTIVATION: Neighbour-Joining is one of the most widely used distance-based phylogenetic inference methods. However, current implementations do not scale well for datasets with more than 10 000 sequences. Given the increasing pace of generating new sequence data, particularly in outbreaks of emerging diseases, and the already enormous existing databases of sequence data for which Neighbour-Joining is a useful approach, new implementations of existing methods are warranted. RESULTS: Here, we present DecentTree, which provides highly optimized and parallel implementations of Neighbour-Joining and several of its variants. DecentTree is designed as a stand-alone application and a header-only library easily integrated with other phylogenetic software (e.g. it is integral in the popular IQ-TREE software). We show that DecentTree shows similar or improved performance over existing software (BIONJ, Quicktree, FastME, and RapidNJ), especially for handling very large alignments. For example, DecentTree is up to 6-fold faster than the fastest existing Neighbour-Joining software (e.g. RapidNJ) when generating a tree of 64 000 SARS-CoV-2 genomes. AVAILABILITY AND IMPLEMENTATION: DecentTree is open source and freely available at https://github.com/iqtree/decenttree. All code and data used in this analysis are available on Github (https://github.com/asdcid/Comparison-of-neighbour-joining-software).

Phylogenetics has a crucial role in genomic epidemiology. Enabled by unparalleled volumes of genome sequence data generated to study and help contain the COVID-19 pandemic, phylogenetic analyses of SARS-CoV-2 genomes have shed light on the virus's origins, spread, and the emergence and reproductive success of new variants. However, most phylogenetic approaches, including maximum likelihood and Bayesian methods, cannot scale to the size of the datasets from the current pandemic. We present 'MAximum Parsimonious Likelihood Estimation' (MAPLE), an approach for likelihood-based phylogenetic analysis of epidemiological genomic datasets at unprecedented scales. MAPLE infers SARS-CoV-2 phylogenies more accurately than existing maximum likelihood approaches while running up to thousands of times faster, and requiring at least 100 times less memory on large datasets. This extends the reach of genomic epidemiology, allowing the continued use of accurate phylogenetic, phylogeographic and phylodynamic analyses on datasets of millions of genomes.

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.