bluuebunny/crossref_metadata_2025_split huggingface dataset:
Behavioural and neurodevelopmental characteristics of SYNGAP1
Authors: Bednarczuk Nadja , Housby Harriet , Lee Irene , Consortium IMAGINE , Skuse David , Wolstencroft Jeanne 
Published: December 2023

Abstract

Background
SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID.
Methods
Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4–16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and a physical health questionnaire.
Results
Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons (p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p = .35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p = .49) or oppositional defiant disorder (7.7%;0%; p = .15).
Conclusion
For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management.
Establishment of A Novel Protocol for Assessing the Severity of Subarachnoid Hemorrhage in Circle Willis Perforation Mouse Model
Authors: Zhang Rui , Khan Dilaware , Muhammad Sajjad 
Published: December 2023

Abstract

The Circle of Willis perforation (cWp) mouse model is a key tool in subarachnoid hemorrhage (SAH) research; however, inconsistent bleeding volumes can challenge experimental reliability. To address this issue, we introduced the ROB Scoring System, a novel protocol integrating Rotarod Tests (RT), Open-field Tests (OT) video analysis, and daily Body Weight Loss (BWL) monitoring to precisely categorize SAH severity. Forty C57BL/6 mice underwent cWp induction, categorized by ROB into severity subgroups (severe, moderate, mild). Validation compared ROB outcomes with autopsy results on postoperative days 3 and 7 for acute and sub-acute evaluations. Mortality rates were analyzed via the survival log-rank test, revealing a significant difference among severity groups (P < 0.0001). Strong correlations between ROB grades and autopsy findings underscored its precision. Notably, the severe group exhibited 100% mortality within 4 days post-SAH onset. Individual parameters (RT, OT, BWL) were insufficient for distinguishing SAH severity levels. The ROB Scoring System represents a significant advancement, offering precise categorization and addressing inherent bleeding variations in the cWp mouse model. This standardized protocol enhances the reliability and effectiveness of SAH research, providing a valuable tool for future investigations into this critical.
Fostering Learning at Home: Examining Parental Involvement in Education Amid the COVID-19 Pandemic
Authors: Ntitima Christine , Mwaba Beatrice 
Published: December 2023

Abstract
The purpose of the study was to assess parental involvement in educating their children during Covid-19 pandemic at Nakambala Private School and Mukuyu Primary School in Mazabuka District, Zambia. A descriptive survey research design was adopted for this study. Data were collected through a questionnaire and interviews from parents and learners. The sample size of the study was one hundred (100) parents and ten (10) learners from selected basic schools in Mazabuka district giving a total of 110 participants. The sampling technique used was purposive sampling with the sample criteria being parents who have children at Nakambala Private School and Mukuyu Primary School. Random sampling was also used to select parents and students to be interviewed for the study. The findings of the study were that a good number of parents with children from Nakambala Private School situated in Mazabuka Urban and Mukuyu Primary situated in Mazabuka rural of Mazabuka district were involved in ensuring that their children receive education during Covid-19 pandemic by helping their children with school work at home and providing facilities in the form of mobile phones and Internet service coverage during online learning. The results also showed that parents interacted with their children by spending quality time teaching their children and helping in doing school work. Parents faced challenges in ensuring that their children continue receiving quality education during Covid-19 pandemic. These were: lack or limited access to internet and the poor internet connection in the area, inadequate time to be with the children because of busy schedule, balancing responsibilities, lack of smart phones, and challenges in sourcing for data bundles. It is recommended that parents get prepared in advance by acquiring smart phones and balancing responsibilities in case the pandemic resurface in future. The study also recommend that network providers to improve in the provision of internet in rural areas so that people in rural areas have quality access to internet, and also teachers to develop their own hybrid model of teaching and learning suited to specific educational needs in times of Covid-19 pandemic.
Co-design workshops to develop evidence synthesis summary formats for use by clinical guideline development groups
Authors: Murray Ruairi , Magendran Erindaa , Chander Neya , Lynch Rosarie , O’Neill Michelle , Devane Declan , Smith Susan M. , Mahtani Kamal , Ryan Máirín , Clyne Barbara , Sharp Melissa K 
Published: December 2023

Abstract
Background: Evidence synthesis is used by decision-makers in various ways, such as developing evidence-based recommendations for clinical guidelines. Clinical guideline development groups (GDGs) typically discuss evidence synthesis findings in a multidisciplinary group, including patients, healthcare providers, policymakers, etc. A recent mixed methods systematic review (MMSR) identified no gold standard format for optimally presenting evidence synthesis findings to these groups. However, it provided 94 recommendations to help produce more effective summary formats for general evidence syntheses (e.g., systematic reviews). To refine the MMSR recommendations to create more actionable guidance for summary producers, we aimed to explore these 94 recommendations with participants involved in evidence synthesis and guideline development.
Methods: We conducted a descriptive qualitative study using online focus group workshops in February and March 2023. These groups used a participatory co-design approach with interactive voting activities to identify preferences for a summary format's essential content and style. We created a topic guide focused on recommendations from the MMSR with mixed methods support, ≥3 supporting studies, and those prioritised by an expert advisory group via a pragmatic prioritisation exercise using the MoSCoW method (Must, Should, Could, and Will not haves). Eligible participants must be/have been involved in GDGs and/or evidence synthesis. Groups were recorded and transcribed. Two independent researchers analysed transcripts using directed content analysis with 94 pre-defined codes from the MMSR.
Results: Thirty individuals participated in six focus groups. We coded 79 of the 94 pre-defined codes. Participants suggested a “less is more” structured approach that minimises methodological steps and statistical data, promoting accessibility to all audiences by judicious use of links to further information in the full report. They emphasised concise, consistently-presented formats which highlight key messages, flag readers to indicators of trust in the producers (i.e., logos, websites, and conflict of interest statements), and highlight the certainty of evidence (without extenuating details).
Conclusions: This study identified guidance based on the preferences of guideline developers and evidence synthesis producers about the format of evidence synthesis summaries to support decision-making. Next steps involve developing and user-testing prototype formats through one-on-one semi-structured interviews to optimise evidence synthesis summaries and support decision-making.
Accuracy of Inferences About the Reproductive Number and Superspreading Potential of SARS-CoV-2 with Incomplete Contact Tracing Data
Authors: Bayly Henry , Mei Winnie , Egeren Debra , Stoddard Madison , Chakravarty Arijit , White Laura F 
Published: December 2023

Abstract
The basic reproductive number (R0) and superspreading potential (k) are key epidemiological parameters that inform our understanding of a disease’s transmission. Often these values are estimated using the data obtained from contact tracing studies. Here we performed a simulation study to understand how incomplete data due to preferential contact tracing impacted the accuracy and inferences about the transmission of SARS-CoV-2. Our results indicate that as the number of positive contacts traced decreases, our estimates of R0 tend to decrease and our estimates of ktend to increase. Notably, when there are large amounts of positive contacts missed in the tracing process, we can conclude that there is no indication of superspreading even if we know there is. The results of this study highlight the need for a unified public health response to transmissible diseases.
Enhanced skeletal muscle fatigue tolerance through cell transplantation-mediated dystrophin supplementation in a mouse model of Duchenne Muscular Dystrophy
Authors: Yoshioka Clémence Kiho Bourgeois , Takenaka-Ninagawa Nana , Goto Megumi , Miki Mayuho , Watanabe Daiki , Yamamoto Masamichi , Aoyama Tomoki , Sakurai Hidetoshi 
Published: December 2023

Abstract

Background
Duchenne muscular dystrophy (DMD) is an incurable neuromuscular disease leading to progressive skeletal muscle weakness and fatigue. Cell transplantation in murine models have shown promise in supplementing the lack of the dystrophin protein in DMD muscles. However, the establishment of novel, long-term, relevant methods is needed to assess its efficiency on the DMD motor function. By applying newly developed methods, this study aimed to evaluate the functional and molecular effects of cell therapy-mediated dystrophin supplementation on DMD muscles.
Methods
Dystrophin was supplemented in the gastrocnemius of a 5-week-old immunodeficient DMD mouse model (Dmd-null/NSG) by intramuscular xenotransplantation of healthy human immortalized myoblasts (Hu5/KD3). A long-term time-course comparative study was conducted between wild-type, untreated DMD, and dystrophin supplemented-DMD mouse muscle functions and histology. A novel GO-ATeam2 transgenic DMD mouse model was also generated to assess in vivo real-time ATP levels in gastrocnemius muscles during repeated contractions.
Results
We found that 10.6% dystrophin supplementation in DMD muscles was sufficient to prevent low values of gastrocnemius maximal isometric contraction torque (MCT) at rest, while muscle fatigue tolerance, assessed by MCT decline after treadmill running, was fully ameliorated in 21-week-old transplanted mice. None of the dystrophin-supplemented fibers were positive for muscle damage markers after treadmill running, with 85.5% demonstrating the utilization of oxidative metabolism. Furthermore, ATP levels in response to repeated muscle contractions tended to improve, and mitochondrial activity was significantly enhanced in dystrophin supplemented-fibers.
Conclusions
Cell therapy-mediated dystrophin supplementation efficiently improved DMD muscle functions, as evaluated using newly developed evaluation methods. The enhanced muscle fatigue tolerance in 21-week-old mice was associated with the preferential regeneration of damage-resistant and oxidative fibers, highlighting increased mitochondrial activity, after cell transplantation. These findings significantly contribute to a more in-depth understanding of DMD pathogenesis.
Impact of bacterial leaf blight disease ( Pantoea agglomerans ) on forage yield and feeding value of oat
Authors: Wang Jianjun , Zhang Ruochen , Chen Taixiang , Wei Xuekai , Kamran Malik , White James F , Zhao Guiqin , Li Chunjie 
Published: December 2023

Abstract

From 2018 to 2019, bacterial leaf blight disease (LBD) caused by Pantoea agglomerans was observed on the leaves of oat (Avena sativa L.) in Northwest China, and diseased oat often showed yellow-colored necrotic symptoms on the leaves. This is a new bacterial disease of oat in China. In this study, greenhouse experiments were conducted to explore the effect of LBD (P. agglomerans) on forage yield and feeding value of Avena sativa [Baiyan 2 (B2)] and A. nuda [Baiyan 7 (B7)]. The results revealed that effective tillers, plant height, flag-leaf length, flag-leaf width, fresh weight, dry weight, fresh-dry ratio, crude ash, crude protein, ether extract, soluble carbohydrate, calcium, phosphorus, digestible dry matter, dry matter intake and relative feed value of B2 and B7 were all significantly (P < 0.05) decreased by LBD. Hay yield of oat was reduced 1.38 to 23.48%, and relative feed value was decreased 1.01 to 26.24% by LBD. In contrast, crude fiber, acid detergent fiber, neutral detergent fiber and nitrogen free extract of B2 and B7 were significantly (P < 0.05) increased after inoculation of P. agglomerans. Moreover, B7 had a higher forage yield and relative feed value than B2 under inoculation and non-inoculation of P. agglomerans. LBD (P. agglomerans) has negative influences on growth, forage yield and feeding value of oat, and these negative effects are enhanced with increase of LBD severity.
Eocene calc-alkaline volcanic rocks related to Cenozoic episodic magmatism during Neo-Tethyan subduction, Tarom–Hashtjin Belt, NW Iran
Authors: Torkian Ashraf , Furman Tanya , Fazel Ebrahim Tale , Ajalli Nayer 
Published: December 2023

Abstract

The Eocene Rasht-Abad volcanic rocks are located in the Alborz-Azerbaijan magmatic belt (including the Tarom-Hashtjin province) of NW Iran. These are mainly mafic to intermediate volcanic rocks with calc-alkaline affinities, comprising andesite, andesite-basalt, trachy-andesite, and dacite. Clinopyroxene ranging in composition from diopside to augite is the most significant mafic mineral of the basic rocks. Aluminum partitioning between tetrahedral and octahedral sites shows that the mineral crystalized at low pressure. Ferric iron of clinopyroxene also indicates high oxygen fugacity of the host magma crystallization environment. Geothermobarometry using clinopyroxene constrains the crystallization temperature and pressure of this mineral as 1100–1200°C and 3-7.5 kbar. Ce/Pb values of the mafic lavas are lower than values expected for mantle-derived melts but do not support crustal contamination. Co-existing basalt to trachyandesite lavas display parallel and tight REE patterns that suggest these rocks originated from a common mantle source or parental magma. Tectonomagmatic discrimination diagrams and mineral compositions are consistent with the host volcanic rocks having the characteristics of continental margin arcs. Geochemical data are consistent with the parental magma of mafic-intermediate rocks of Rasht-Abad area being derived from a typical subcontinental lithospheric mantle which was enriched by subducted slab-derived fluids and melts during tectonic events in the active continental margin. The data support a model of Eocene flare-up magmatism associated with rollback of a flattened slab.
Control of Mal secco disease in lemon by drip irrigation of fungicide
Authors: Ezra‬‏ ‪David , Ovadia Amos 
Published: December 2023

Abstract

The ‘mal secco’ disease of citrus is caused by the mitosporic ascomycete fungus Plenodomus tracheiphilus (formerly Phoma tracheiphilus (Petri)). Mal secco of citrus is a highly destructive vascular disease of lemon and other citrus, presently confined to the Mediterranean basin, which has a relevant economic impact on the citrus industry. The fungal pathogen infects the host tree by penetrating through wounds in the roots or the canopy. Canopy infection spreads quickly into the main branches and trunk and tree mortality usually occurs. The most typical symptoms are venial chlorosis, leaf wilt, red coloration of the xylem and die back of twigs and branches. Current acceptable control of the disease is mainly by sanitation of infected wood, and cooper application during the winter, to prevent germinating spores from infecting the plant. No effective chemical control was reported for the control of the disease. Here we report the development of a drip irrigation protocol for the protection of trees and the control of the disease by applying Futriafol 125 gr/liter, five times during the year. The progress of the disease symptoms in the treated trees is inhibited dramatically allowing the sanitation process to become easier, significantly shorter to perform, and cheaper than in untreated trees. The longer the orchard is treated, the less symptoms of the disease are diagnosed in the trees. We have treated orchards for more than six years and established a commercial protocol for the growers, helping them to control the disease.
Spatiotemporal variation and scenario projections of heat wave during 1961-2100 in the Loess Plateau
Authors: Si Wenyang , Wu Zhitao , Du ZiQiang , Liang HanXue , Lei tianjie , Sun Bin 
Published: December 2023

Abstract

Understanding the spatiotemporal characteristics of heat wave (HW) is vital for both natural systems and human populations. Given the Loess Plateau's sensitivity to extreme events due to its fragile ecological environment, it is imperative to study the spatiotemporal variability of HW. This research utilized instrumental measurements, climate model data, atmospheric circulation data, and heat wave metrics to comprehensively analyze past and future HW variations and their drivers in the Loess Plateau. From 1961 to 2019, the metrics for daytime heat wave(DHW) and nighttime heat wave(NHW) were as follows: duration (9.28/9.72 days), frequency (1.34/1.4 times, mean intensity (6.24/4.69°C), maximum intensity (7.83/6.05°C), and cumulative heat (44.45/32.63°Cd). All metrics displayed an increasing trend. Geographically, the northern Loess Plateau exhibited the highest intensity and cumulative heat, whereas the southern region experienced longer heat wave. The solar flux index, western Pacific subtropical high area index, and western Pacific subtropical high intensity index were identified as the primary factors influencing HW in the Loess Plateau. By the end of the 21st century, both the duration and cumulative heat of HW are projected to rise significantly. NHW, in particular, will see extended durations and greater cumulative heat compared to DHW.
Influence of Non-linear Diffusion Controlled Phenomena on the Sorption Capability of PEO-Salt-SiO2 composite electrolyte: A Study on Property Optimization
Authors: Das Anamika , Mukhopadhyay Jayanta , Mishra Shweta , Biswas Satarupa , Mukherjee Moumita , Mukhopadhyay Madhumita 
Published: December 2023

Abstract

The present research, reports the hygrothermal behaviour of poly[ethylene oxide] (PEO) based composite film (500 and1000 µm) containing NH4I and KBr (5–20%) as the mobile phase and non-reactive silica (15wt %) as the filler. These are termed as PK/NSiO2-series for solvent sorbed and (PK/NSiO2)NS for non-swelled film. The novelty of the research lies in the analyses of non-Fickian solvent diffusion trait of films using python programming. The presence of ions and its variable polarizable nature is found to influence the number density of bonded and free solvent content along with the extend of cross linkage. Introduction of silica is found to enhance the ionic conductivity (about one order higher) of the film irrespective of the type of charge carrier owing to the improved dispersion within the matrix. Non-Fickian diffusion is found to influence the ionic conductivity of P2K20SiO2 (10− 5Scm− 1 to 10− 2 Scm− 1) minimizing the endurance to 0.2%ΔC/1000h (> 1%ΔC/1000h, tested for 2000 h) compared to P2N20NSiO2. In contrast, ion migration in P2NSiO2 is guided by Rice and Roth model and being more polarizable ions, the mobility is significant which maximizes the conductivity to ~ 101 Scm− 1. Microstructural study shows heterogenous nucleation to be more pronounced upon addition of silica filler wherein the homogeneity, inter fibrillar interaction and grain growth of spherulites is higher. This tends to extend amorphous regions thereby propagating the ion migration path. The influence of sorption process is studied in terms of electrochemical impedance, dielectric analyses and long term cyclability (20000 h) in terms of loss tangent.
Nav-Q: Quantum Deep Reinforcement Learning for Collision-Free Navigation of Self-Driving Cars
Authors: Sinha Akash , Macaluso Antonio , Klusch Matthias 
Published: December 2023

Abstract

The task of collision-free navigation (CFN) of self-driving cars is an NP-hard problem usually tackled using Deep Reinforcement Learning (DRL). While DRL methods have proven to be effective, their implementation requires substantial computing resources and extended training periods to develop a robust agent. On the other hand, quantum reinforcement learning has recently demonstrated faster convergence and improved stability in simple, non-real-world environments.
In this work, we propose Nav-Q, the first quantum-supported DRL algorithm for CFN of self-driving cars, that leverages quantum computation for improving the training performance without the requirement for onboard quantum hardware. Nav-Q is based on the actor-critic approach, where the critic is implemented using a hybrid quantum-classical algorithm suitable for near-term quantum devices. We assess the performance of Nav-Q using the CARLA driving simulator, a de facto standard benchmark for evaluating state-of-the-art DRL methods. Our empirical evaluations showcase that Nav-Q surpasses its classical counterpart in terms of training stability and, in certain instances, with respect to the convergence rate. Furthermore, we assess Nav-Q in relation to effective dimension, unveiling that the incorporation of a quantum component results in a model with greater descriptive power compared to classical baselines. Finally, we evaluate the performance of Nav-Q using noisy quantum simulation, observing that the quantum noise deteriorates the training performances but enhances the exploratory tendencies of the agent during training.