bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
Authors: Kassabian Benedetta , Fenger Christina Dühring , Willems Marjolaine , Aledo-Serrano Angel , Linnankivi Tarja , McDonnell Pamela Pojomovsky , Lusk Laina , Jepsen Birgit Susanne , Bayat Michael , Kattentidt-Mouravieva Anja A. , Vidal Anna Abulí , Valero-Lopez Gabriel , Alarcon-Martinez Helena , Goodspeed Kimberly , van Slegtenhorst Marjon , Barakat Tahsin Stefan , Møller Rikke S. , Johannesen Katrine M. , Rubboli Guido 
Published: July 2023

IntroductionPhenotypic spectrum of SLC6A1-related neurodevelopmental disorders (SLC6A1-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset, and other neurological features such as hypotonia and movement disorders. Data on familial phenotypic heterogeneity have been rarely reported, thus in our study we aimed to investigate intrafamilial phenotypic variability in families with SLC6A1 variants.MethodsWe collected clinical, laboratory and genetic data on 39 individuals, including 17 probands, belonging to 13 families harboring inherited variants of SLC6A1. Data were collected through an international network of Epilepsy and Genetic Centers.ResultsMain clinical findings in the whole cohort of 39 subjects were: (a) epilepsy, mainly presenting with generalized seizures, reported in 71% of probands and 36% of siblings or first/second-degree relatives. Within a family, the same epilepsy type (generalized or focal) was observed; (b) ID reported in 100% and in 13% of probands and siblings or first/second-degree relatives, respectively; (c) learning disabilities detected in 28% of the SLC6A1 carriers, all of them were relatives of a proband; (d) around 51% of the whole cohort presented with psychiatric symptoms or behavioral disorders, including 82% of the probands. Out of the 19 patients with psychiatric symptoms, ASD were diagnosed in 40% of them; (e) neurological findings (primarily tremor and speech difficulties) were observed 38.5% of the whole cohort, including 10 probands. Our families harbored 12 different SLC6A1 variants, one was a frameshift, two stop-gain, while the remaining were missense. No genotype–phenotype associations were identified.DiscussionOur study showed that first-or second-degree relatives presented with a less severe phenotype, featuring mainly mild intellectual and/or learning disabilities, at variance with the probands who suffered from moderate to severe ID, generalized, sometimes intractable, epileptic seizures, behavioral and psychiatric disorders. These findings may suggest that a proportion of individuals with mild SLC6A1-NDD might be missed, in particular those with an older age where genetic testing is not performed. Further studies on intrafamilial phenotypic variability are needed to confirm our results and possibly to expand the phenotypic spectrum of these disorders and benefit genetic counseling.
The protective effect of serum carotenoids on cardiovascular disease: a cross-sectional study from the general US adult population
Authors: Wang Min , Tang Renzhe , Zhou Rui , Qian Yongxiang , Di Dongmei 
Published: July 2023

BackgroundCardiovascular disease (CVD) has become a key global health issue. Serum carotenoids are associated with CVD, while their effects on different diseases remain unclear. Herein, the relationship between the concentration of serum carotenoid and the CVD risk was investigated using nationwide adult samples obtained from the USA.Materials and methodsData of National Health and Nutrition Examination Survey (NHANES) in 2001–2006 were employed. The association of serum carotenoids (total, lycopene, β-carotene, α-carotene, lutein/zeaxanthin, and β-cryptoxanthin) with CVD was explored by using multivariate logistic, linear and weighted quantile sum (WQS) regression analyses. Eventually, data from 12,424 volunteers were analyzed for this study.ResultsMultivariate model data showed that lutein/zeaxanthin, α-carotene, lycopene, and β-cryptoxanthin were negatively associated with the prevalence of CVD (p &lt; 0.05). In comparison with the first quartile, the fourth quartile was associated with α-carotene ([OR] = 0.61 [0.47–0.79]), β-cryptoxanthin (OR = 0.67 [0.50–0.89]), lutein (OR = 0.69 [0.54–0.86]), and lycopene (OR = 0.53 [0.41–0.67]). WQS analysis revealed that the combination of serum carotenoids had negative correlation with the prevalence of total CVD (OR = 0.88, 95% CI: 0.85–0.92, p &lt; 0.001). Additionally, dose–response analysis demonstrated a negative linear association of hypertension with all the carotenoids involved (p &gt; 0.05 for non-linearity).ConclusionThe concentration of serum carotenoids had negative correlation with the prevalence of CVD, with a more significant negative effect against heart attack and stroke.
Undernutrition among rural school-age children: a major public health challenge for an aspirational district in Karnataka, India
Authors: Vastrad Phaniraj , Neelopant Sushrit , Prasad U. Venkateswara , Kirte Rahul , Chandan N. , Barvaliya Manish J. , Hatnoor Shivappa , Shashidhar S. B. , Roy Subarna 
Published: July 2023

BackgroundFor school-age children, a healthy transition from childhood to adolescence and adulthood depends on proper nutrition. Globally, most nutritional surveys focus on preschool and adolescents, neglecting school-age children. Recent studies have shown the prevalence of thinness among adolescents to be 26.5% in Karnataka. Similarly, among children aged &lt; 5 years in the Raichur district, the prevalence of stunting, wasting, and being underweight was 39.8, 23.2, and 40.7%, respectively. The present study aimed to bridge the data gap between &lt; 5 years of children and adolescents through a nutritional survey of school-going children in Raichur, one of the aspirational districts of India.Materials and methodsA cross-sectional survey was conducted from January to March 2020 among rural school-age children (n = 2700) in 30 villages of the Raichur district of Karnataka, India. The school children were selected through a multi-stage cluster sampling technique. The WHO Anthro-plus software was used for calculating the age and sex-specific Z-scores for weight-for-age (WAZ), height-for-age (HAZ), and BMI-for-age (BAZ).ResultsOf the 2,700 school-age children surveyed, the mean weight and height were 22.2 kg (+5.8) and 124.9 cm (+11.6), respectively. The prevalence of children having weight-for-age Z-scores &lt; −2 SD (Underweight) was 45.3% (95% CI: 42.7%−47.8%). The magnitude of stunting and severe stunting was 19.5% (95% CI: 18.0%−21.0%) and 7.6% (95% CI: 6.6%−8.6%), respectively. The proportion of children with BMI for age Z-scores &lt; −2SD (thinness) was 43% (95% CI: 41.1%−44.9%), with sub-district Sindhanur having a dual burden of malnutrition.ConclusionDespite many flagship programs, the prevalence of undernutrition in school-age children remains a considerable public health problem in the aspirational district of Raichur, India. Furthermore, exploratory studies are recommended to identify the factors associated with undernutrition among school-age children and strategize evidence-based intervention.
Predictive value of preoperative inflammatory indexes for postoperative early recurrence of hepatitis B-related hepatocellular carcinoma
Authors: Wenpei Guo , Yuan Li , Liangbo Li , Jingjun Mu , Bo Wang , Zhiqiang Niu , Yijie Ning , Lixin Liu 
Published: July 2023

ObjectiveTo investigate the predictive value of preoperative neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), systemic inflammation response index (SIRI), and systemic immune inflammation index (SII) for early recurrence after liver resection in patients with hepatitis B-related hepatocellular carcinoma.MethodsA retrospective study was conducted on 162 patients who underwent hepatitis B-related hepatocellular carcinoma (HCC) resection between January 2013 and April 2016. The Youden index was utilized to calculate the optimal cut-off value. The Pearson Chi-square test was applied to analyze the relationship between inflammatory indexes and common clinical and pathological features. The Kaplan-Meier method and Log-Rank test were implemented to compare the recurrence-free survival rate within 2 years of the population. The Cox regression analysis was used to identify the risk factors for early postoperative recurrence.ResultsThe best cut-off values of SIRI, PLR, NLR and SII were 0.785, 86.421, 2.231 and 353.64, respectively. Tumor diameter, degree of tumor differentiation, vascular invasion, SIRI&gt;0.785, PLR&gt;86.421, NLR&gt;2.231 and SII&gt;353.64 were risk factors for early recurrence. Combining the above seven risk factors to construct a joint index, the AUC of the joint prediction model was 0.804. The areas under the ROC curves of SIRI, PLR, NLR, and SII were 0.659, 0.725, 0.680, and 0.723, respectively. There was no significant difference in the predictive ability between the single inflammatory index models, but the predictive performance of the joint prediction model was significantly higher than that of the single inflammatory index models. The patients with lower SIRI, PLR, NLR, SII and joint index value had longer recurrence-free survival within 2 years.ConclusionThe joint index CIP, constructed by combining preoperative SIRI, PLR, NLP and SII with pathological features, can better predict the early recurrence of HBV-related HCC patients after surgery, which is beneficial in identifying high-risk patients and assisting clinicians to make better clinical choices.
The causal associations between growth factors and constipation: a two-sample Mendelian randomization study
Authors: Wang Jiachen , Yang Mingyi , Xu Ke , Wan Xianjie , Xie Jiale , Yu Hui , Fang Jiaxin , Wang Zehua , Xu Peng 
Published: July 2023

Introduction: Certain growth factors (GFs) are associated with constipation, but few studies has analyzed the causal associations between the two. Therefore, this study used two-sample Mendelian randomization (MR) to systematically analyze the causal associations between GF levels and constipation based on data from genome-wide association studies (GWAS).Methods: Both GF and constipation data were obtained from European populations. GFs, as an exposure variable, were obtained from a genetic map of the human plasma proteome containing 3,301 samples, another GWAS dataset on 90 circulating proteins containing 30,931 samples, and a GWAS dataset containing 3,788 samples. Constipation, as an outcome variable, was obtained from the FinnGen project containing 26,919 cases and 282,235 controls and another UK Biobank dataset containing 3,328 cases and 459,682 controls. Single-nucleotide polymorphisms strongly associated with GFs were regarded as instrumental variables. Inverse-variance weighting, MR–Egger regression, weight median, simple mode, and weight mode methods were used to determine genetic associations. Cochran’s Q test, Egger intercept, and Mendelian Randomization Pleiotropy RESidual Sum and Outlier tests were used to analyze sensitivity.Results: The IVW analysis based on FinnGen showed that NGFI-A-binding protein 2 and vascular endothelial growth factor receptor 2 were inversely associated with constipation, and that fibroblast growth factor 7 and transforming growth factor beta receptor II levels were positively associated with constipation. The IVW analysis based on UK Biobank showed that proheparin-binding epidermal growth factor, platelet-derived growth factor AA, and vascular endothelial growth factor121 were inversely associated with constipation.Conclusion: This study showed that some GFs are genetically associated with the risk of constipation.
Effect of support based on family centered empowerment model on care burden in family caregivers of patients with multiple sclerosis
Authors: Mousaei Farshid Mohammad , Mirhosseini Seyedmohammad , Mafi Mohammad Hossein , Günaydın Nevin , Zendehtalab Hamid Reza 
Published: July 2023

IntroductionFamily caregivers of patients with multiple sclerosis (MS) are at risk of care burden that may lead to a detrimental effect on their quality of life (QoL), physical and mental well-being. This study aimed to determine the effect of the family-centered empowerment model (FCEM) on the care burden of caregivers of patients with MS.MethodsThis quasi-experimental study was conducted using convenience sampling on 60 caregivers of patients referring to the Multiple Sclerosis Clinic in Ghaem Hospital, Mashhad, Iran. The participants were assigned to FCEM and control groups based on the days they were referred to the MS clinic. Data collection tools included the Zarit Caregiver Burden Inventory (CBI), completed in the intervention and control groups before and 1 month after the intervention. The support based on FCEM was provided during eight 45-60-min sessions, and the control group received the medical center’s routine training. Data were analyzed by Chi-square, independent t-test, analysis of covariance, and repeated measure tests.ResultsThe results of the present study showed that all demographic characteristics were homogeneous at the baseline. Before the intervention, no significant difference was observed between the two groups regarding mean scores of care burden. Based on the repeated measure test, there was no significant treatment and time interaction in changes in care burden.ConclusionThe FCEM has no significant effect in alleviating the care burden. It is recommended to observe the necessary considerations regarding the context of this type of intervention and to carry out further investigations in different intervals.
La retroalimentación como estrategia para mejorar el proceso formativo del estudiante
Authors: Tamayo Mendoza Ruth Mercedes , Menacho Rivera Alejandro Sabino , Hinojo Jacinto Guillermina Norberta 
Published: July 2023

Ante las deficiencias encontradas en las evaluaciones a los estudiantes y el prejuicio que estos tienen respecto a las mismas, muchas instituciones han visto la retroalimentación formativa como una estrategia para mejorar el desarrollo formativo del estudiante, asegurando el seguimiento y mejora constante. El objetivo de este estudio es evaluar el impacto de la retroalimentación en la formación de los estudiantes a través de una revisión sistemática. La metodología empleada fue la revisión sistemática para ello, fueron seleccionado los artículos relevantes, la síntesis de la información, luego fueron agrupados por semejanza y la identificación de variables o factores asociados al tema. Se seleccionaron 30 artículos afines al objetivo. La evaluación determinó que la retroalimentación formativa tiene impactos positivos en el proceso formativo del estudiante. Por lo tanto, se recomienda su uso como parte esencial de la enseñanza y el aprendizaje según los estudios analizados del resultado de la busqueda.
Compte rendu ornithologique camarguais pour les années 1990-1994
Authors: Thibault Marc , Kayser Yves , Tamisier Alain , Sadoul Nicolas , Cherain Yves , Hafner Heinz , Johnson Alain , Isenmann Paul 
Published: July 2023

The present ornithological report for the Camargue covers five years (1990-1994). This time-period was characterised by mild winters, high yearly rainfall in 1990, 1993 and 1994 and a sharp drop of salinity in the Vaccarès.
The Little Egret and the Cattle Egret have increased their breeding figures that might be related to some mild winters and good breeeding success. The Black-crowned Night Heron was still at a low level. With about 1500 breeding pairs, the Grey Heron has nearly tripled its numbers since 1981, whereas the Purple Heron has continued to decline.
The following species have become new breeders : White Stork, Great Egret, Glossy Ibis, Mute Swan, Greylag Goose and Common Buzzard. Some others have become rare breeders : Collared Pratincole, Stone-curlew, Eurasian Scops Owl, Little Owl and Com Bunting. These species have been threatened by habitat alterations to their breeding grounds or along their migration routes and wintering quarters.
There is a concern about the breeding of gulls, terns and waders in the two salines of Camargue. While the number of breeding islets has remained un¬ changed, most of them are now colonised by the Yellow-legged Gull. This has led to dramatic population shifts of the smaller species from one saline (Salin de Giraud) to the other (Aigues-Mortes). At the latter site, the smaller species have, moreover, adopted nest sites with low breeding success. Thus, the survival of several species is guaranteed by immigration movements from abroad. The Black-headed Gull has continued to decline, but the Slender-billed Gull, the Mediterranean Gull and the Sandwich Tern has increased and other species have remained more or less stable. The trend of all these species should be followed with great care and the carrying capacity of the two salines must be urgently enhanced.
A few individuals of some trans-Saharan migrants have overwintered (Black-crowned Night Heron, Squacco Heron, Glossy Ibis, Black-winged Stilt, Common Tern, Whiskered Tern, Wryneck and Yellow Wagtail) or have increasingly overwintered (Ringed Plover and Kentish Plover). The recent mild winters may have favoured this trend. Two other species (Cetti’s Warbler and Fantailed Warbler) have increased their breeding numbers probably for the same reason.
The Purple Swamphen and the Spotless Starling are expected to become new breeders in a near future. The Common Crane and the Greylag Goose have increased their wintering numbers. The Camargue still remains a good breeding area for the Mallard but the Gadwall did not progress. The Common Pochard is still absent as a breeder. Among the Anatidae, only the Greylag Goose and the Mute Swan have increased as breeders. The high hunting pressure is suspected to be the major factor that limits the overall carrying capacity of the Camargue for wintering ducks and coots. A concern for wildlife conservationists and for hunters.
الحماية الجنائية للشهادات العلمية في القانون الإماراتي
Authors: منجد منال 
Published: July 2023

تحظى الشهادة العلمية في وقتنا الراهن بمكانةٍ كبيرة، حيث تعد المؤشر على مستوى التحصيل الدراسي للإنسان، والمعيار الذي يتم على أساسه التعيين في الوظائف، كما أصبحت تعطي انطباعاً أولياً عن أصحابها، فأصبح حاملي بعض الشهادات العلمية ولاسيما العليا منها يتمتعون بالاحترام والتقدير لمجرد اقتران أسمائهم باللقب الذي تمنحه الشهادة العلمية. وقد ترتب على هذه المكانة التي حظيت بها الشهادة العلمية أثر مزدوج، فمن جهة شجعت البعض على متابعة التحصيل العلمي من أجل الحصول على أعلى الشهادات العلمية وما يرتبط بها من مزايا أدبية ومادية، و من جهة ثانية دفعت البعض إلى السعي وراء الحصول على الشهادات العلمية بأية طريقة وبأي ثمن بغرض الاستفادة من تلك المزايا، وهو ما أدى إلى ظهور جامعات غير مرخصة و جامعات وهمية ليس لها وجود حقيقي على أرض الواقع تمنح الشهادات العلمية بأعلى الدرجات مقابل مبالغ مالية، وطبعاً هناك من تناسبه هذه الجامعات حيث يدفع المال ليحصل على شهادة تشبه إلى حد كبير- من حيث الشكل فقط - الشهادات التي تمنحها الجامعات الحقيقية دون أدنى جهد أو تعب.
وقد تنبه المشرع الجزائي في دولة الإمارات العربية المتحدة إلى خطورة هذه الظاهرة ولا سيما أن دولة الإمارات تعد من جهات العمل الجاذبة، فقام بإصدار المرسوم بقانون رقم (9) لعام 2021 في شأن "حظر استخدام الشهادات العلمية الصادرة من جهات غير مرخص لها".
تهدف هذه الدراسة إلى التعريف بهذه الظاهرة وإلقاء الضوء على أحكام المرسوم بقانون رقم (9) لعام 2021 المشار إليه آنفاً للوقوف على مدى كفايتها في مواجهة الشهادات العلمية المشبوهة.
The Effect of Macroeconomic Policy Uncertainty on Environmental Quality in Jordan: Evidence from The Novel Dynamic Simulations Approach
Authors: Alkhawaldeh Bashar Younis Subeih , Alhawamdeh Hamzeh , Almarshad Mohammad , Fraihat Baha Aldeen Mohammad , Abu-Alhija Shireen Maher Mohammad , Alhawamdeh Abbas Mohammad , Ismaeel Bader 
Published: July 2023

Objectives: Over the past few years, Jordan's economy has grown rapidly, placing it prominently among the world's emerging markets and developing economies rapidly. The country is known for its diverse natural resources. However, the effects of macroeconomic uncertainty, energy intensity, and trade openness on the environment have received less attention than the environmental implications of energy generation. This research fills a significant gap in the literature by investigating the impact of macroeconomic policy uncertainty on Jordan's environmental Kuznets curve from 1970 to 2021.
Methods: This study adopted a methodological framework to simulate dynamic distributed self-regression.
Results: The results of the study revealed that uncertainty about the future direction of macroeconomic policy accelerates the short and long-term rate of environmental degradation; economic growth accelerates environmental degradation while the square of economic growth slows it, confirming the presence of the environmental Kuznets curve hypothesis; energy density accelerates the rate of environmental quality degradation.
Conclusions: Jordan should adopt advanced, environmentally friendly, clean technologies that transition from fossil fuels to low-carbon renewable energy sources. The government should establish strong international partnerships for technology exchange and environmental preservation. Additionally, increasing Jordan's economic complexity is crucial for achieving its environmental development goals.
The Asymmetric Impact of Energy consumption on economic growth; Empirical Evidence from the Jordanian Economy
Authors: Al-Nawafleh Aseel , Alqaralleh Huthaifa 
Published: July 2023

Objectives: This study aims to demonstrate the asymmetric impact of energy consumption on Jordan's economic growth, addressing a range of explanatory variables of economic growth, mainly total energy consumption, total fixed capital formation, and total labor force from 1990 to 2019.
Methods: The study used the autoregressive lagging time lag model in its non-linear form (NARDL) for regression analysis. To achieve this purpose, the unit root test, the Wald-test asymmetry test, the Cointegration test, and a set of model validity tests were used.
Results: The results confirm that economic growth represented by growth in GDP is disproportionately affected by changes in energy consumption. Furthermore, the selected economic variables have had the expected impact in line with economic theory and previous literature.
Conclusions: The study recommended that economic shocks in the energy sector should be considered in the analysis of this relationship, whether positive or reverse in the long and short term, as they are important for decision-makers to limit the impact of such shocks on economic growth.
Piezoelectric MEMS-based physical reservoir computing system without time-delayed feedback
Authors: Yoshimura Takeshi , Haga Taiki , Fujimura Norifumi , Kanda Kensuke , Kanno Isaku 
Published: July 2023

Abstract
In this study, a physical reservoir computing system, a hardware-implemented neural network, was demonstrated using a piezoelectric MEMS resonator. The transient response of the resonator was used to incorporate short-term memory characteristics into the system, eliminating commonly used time-delayed feedback. In addition, the short-term memory characteristics were improved by introducing a delayed signal using a capacitance-resistor series circuit. A Pb(Zr,Ti)O3-based piezoelectric MEMS resonator with a resonance frequency of 193.2 Hz was employed as an actual node, and computational performance was evaluated using a virtual node method. Benchmark tests using random binary data indicated that the system exhibited short-term memory characteristics for two previous data and nonlinearity. To obtain this level of performance, the data bit period must be longer than the time constant of the transient response of the resonator. These outcomes suggest the feasibility of MEMS sensors with machine-learning capability.