bluuebunny/crossref_metadata_2025_split huggingface dataset:
Factors associated with receptive and expressive language in autistic children and siblings: A systematic review
Authors: Muès Marjolein , Schaubroeck Sarah , Demurie Ellen , Roeyers Herbert 
Published: May 2024

Background & aims Language abilities of autistic children and children at elevated likelihood for autism (EL-siblings) are highly heterogeneous, and many of them develop language deficits. It is as of yet unclear why language abilities of autistic children and EL-siblings vary, although an interaction of multiple influential factors is likely at play. In this review, we describe research articles that identify one or multiple of such factors associated with the receptive or expressive language abilities of autistic children and EL-siblings since the introduction of the DSM-5. Our aim was to identify and summarize factors that are linked to language development in autistic children and siblings in the recent literature to ultimately gain insight into the heterogeneity of language abilities in these children. Methods The search strategy of this review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The following databases were consulted: Embase, MEDLINE, Web of Science Core Collection, and Scopus. Inclusion criteria for studies were the presence of a sample of autistic children no older than 7 years old who were diagnosed with autism spectrum disorder per the criteria of the DSM-5. Intervention studies and studies without an explicitly reported language measure were excluded. Risk of bias assessment was completed using the Newcastle–Ottawa Scales. Ultimately, 55 articles were included in this review. Main contribution Fifty-six factors were identified to be related to receptive or expressive language abilities of autistic children and EL-siblings. They were grouped into three main categories: biological factors; psychosocial and environmental factors; and age-related and developmental factors, each with different subcategories. Although many of the identified variables were only examined in one article, some well-researched associated factors were reported across multiple studies and were present in both autistic children and EL-siblings, in particular joint attention, nonverbal cognitive abilities and frontal EEG power. Better insight in these factors associated with language abilities in autistic children and siblings at elevated likelihood can inform future intervention strategies to reduce language deficits and its corresponding negative consequences in these children. Conclusions Our results confirm that multiple different factors likely underlie language deficits in autism. Important aspects that should be considered are, among others, social factors such as joint attention, child characteristics such as nonverbal cognition, and neurocognitive factors.
OsLSC6 Regulates Leaf Sheath Color and Cold Tolerance in Rice Revealed by Metabolite Genome Wide Association Study
Authors: Lv Shuwei , Tang Xuan , Jiang Liqun , Zhang Jing , Sun Bingrui , Liu Qing , Mao Xingxue , Yu Hang , Chen Pingli , Chen Wenfeng , Fan Zhilan , Li Chen 
Published: May 2024

AbstractPlant metabolites including anthocyanins play an important role in the growth of plants, as well as in regulating biotic and abiotic stress responses to the environment. Here we report comprehensive profiling of 3315 metabolites and a further metabolic-based genome-wide association study (mGWAS) based on 292,485 SNPs obtained from 311 rice accessions, including 160 wild and 151 cultivars. We identified hundreds of common variants affecting a large number of secondary metabolites with large effects at high throughput. Finally, we identified a novel gene namely OsLSC6 (Oryza sativa leaf sheath color 6), which encoded a UDP 3-O-glucosyltransferase and involved in the anthocyanin biosynthesis of Cyanidin-3-Galc (sd1825) responsible for leaf sheath color, and resulted in significant different accumulation of sd1825 between wild (purple) and cultivars (green). The results of knockout transgenic experiments showed that OsLSC6 regulated the biosynthesis and accumulation of sd1825, controlled the purple leaf sheath. Our further research revealed that OsLSC6 also confers resistance to cold stress during the seedling stage in rice. And we identified that a SNP in OsLSC6 was responsible for the leaf sheath color and chilling tolerance, supporting the importance of OsLSC6 in plant adaption. Our study could not only demonstrate that OsLSC6 is a vital regulator during anthocyanin biosynthesis and abiotic stress responses, but also provide a powerful complementary tool based on metabolites-to-genes analysis by mGWAS for functional gene identification andpromising candidate in future rice breeding and improvement.
Characterizing dysregulations via cell-cell communications in Alzheimer’s brains using single-cell transcriptomes
Authors: Lee Che Yu , Riffle Dylan , Xiong Yifeng , Momtaz Nadia , Lei Yutong , Pariser Joseph M. , Sikdar Diptanshu , Hwang Ahyeon , Duan Ziheng , Zhang Jing 
Published: May 2024

Abstract
Background
Alzheimer’s disease (AD) is a devastating neurodegenerative disorder affecting 44 million people worldwide, leading to cognitive decline, memory loss, and significant impairment in daily functioning. The recent single-cell sequencing technology has revolutionized genetic and genomic resolution by enabling scientists to explore the diversity of gene expression patterns at the finest resolution. Most existing studies have solely focused on molecular perturbations within each cell, but cells live in microenvironments rather than in isolated entities. Here, we leveraged the large-scale and publicly available single-nucleus RNA sequencing in the human prefrontal cortex to investigate cell-to-cell communication in healthy brains and their perturbations in AD. We uniformly processed the snRNA-seq with strict QCs and labeled canonical cell types consistent with the definitions from the BRAIN Initiative Cell Census Network. From ligand and receptor gene expression, we built a high-confidence cell-to-cell communication network to investigate signaling differences between AD and healthy brains.

Results
Specifically, we first performed broad communication pattern analyses to highlight that biologically related cell types in normal brains rely on largely overlapping signaling networks and that the AD brain exhibits the irregular inter-mixing of cell types and signaling pathways. Secondly, we performed a more focused cell-type-centric analysis and found that excitatory neurons in AD have significantly increased their communications to inhibitory neurons, while inhibitory neurons and other non-neuronal cells globally decreased theirs to all cells. Then, we delved deeper with a signaling-centric view, showing that canonical signaling pathways CSF, TGFβ, and CX3C are significantly dysregulated in their signaling to the cell type microglia/PVM and from endothelial to neuronal cells for the WNT pathway. Finally, after extracting 23 known AD risk genes, our intracellular communication analysis revealed a strong connection of extracellular ligand genes APP, APOE, and PSEN1 to intracellular AD risk genes TREM2, ABCA1, and APP in the communication from astrocytes and microglia to neurons.

Conclusions
In summary, with the novel advances in single-cell sequencing technologies, we show that cellular signaling is regulated in a cell-type-specific manner and that improper regulation of extracellular signaling genes is linked to intracellular risk genes, giving the mechanistic intra- and inter-cellular picture of AD.
Causal inference between pernicious anemia and cancers: a bidirectional two-sample mendelian randomization analysis
Authors: Che Bangwei , Yuan Shenglan , Zhang Hongyan , Zhai Jiancheng , Zhang Yang , Wu Chuanchuan , Tang Kaifa 
Published: May 2024

Abstract
Background
Observational study investigated the association between pernicious anemia (PA) and cancers. However, with the exception of gastric cancer, the results are mostly contradictory. The purpose of this study was to investigate the potential causal relationship between PA and cancers through bidirectional two-sample Mendelian randomized (MR) analysis.

Methods
The European sample FinnGen project provided the genetic summary data for PA and 20 site-specific cancers. This bidirectional two-sample MR design mainly used the inverse variance weighting (IVW) method to evaluate the causal relationship between PA and cancer risk. Benjamini-Hochberg correction was performed to reduce the bias caused by multiple tests.

Results
Our study shows that there was a causal relationship between PA and gastric cancer, prostate cancer, testicular cancer and malignant melanoma of skin, and there was a reverse causal relationship between prostate cancer or gastric cancer and PA (P < 0.05). After Benjamini-Hochberg correction test, there was still a causal correlation between PA and gastric or prostate cancer (P’ < 0.05), while there was only an implied causal association between PA and testicular cancer and malignant melanoma of skin (P’> 0.05). There was still a reverse causal relationship between gastric cancer and PA (P‘< 0.05), while prostate cancer shows an implied reverse causal relationship(P’> 0.05). In addition, MR-Egger and MR-PRESSO tests showed no significant horizontal pleiotropy.

Conclusions
PA may be genetically associated with testicular cancer, prostate cancer, gastric cancer, and malignant melanoma of skin.
Lens subluxation combined with parry-romberg syndrome: case report
Authors: Tang Yating , Jing Qinghe , Jiang Yongxiang , Lu Yi 
Published: May 2024

Abstract
Background
Parry-Romberg syndrome (PRS) is a rare progressive degenerative disorder of unknown etiology. Here we report a rare case of PRS combined with lens subluxation in Eye and ENT hospital of Fudan University, Shanghai. To our knowledge, it is the first reported case of PRS combined with lens subluxation that has been managed surgically with phacoemulsification and CTR placement and IOL implantation in Shanghai.

Case presentation
A 60-year-old woman was referred for “right visual blur for 2 years” and had persistent right facial paralysis of unknown etiology since the age 12. She had right facial muscle atrophy and paralysis. Eye examination also showed the right eyelid pseudoptosis, enophthalmos, age-related cataract combined with lens subluxation existed in the right eye. The patient was diagnosed as age-related cataract and lens subluxation in the right eye and progressive hemifacial atrophy (Parry-Romberg syndrome). We conducted a combined phacoemulsification, IOL and CTR implantation and pupilloplasty surgery for the patient under general anesthesia and the postoperative UCVA was 20/30 and remained for 1 year’s follow up.

Conclusions
Here we reported a rare case of PHA combined with lens subluxation in China. After appropriate eye surgery, the patient achieved satisfying vision result in the right eye.
Unused, expired pharmaceuticals and their disposal practices among the general public in Burdur-Türkiye: a cross-sectional study
Authors: Köksoy Serkan 
Published: May 2024

Abstract
Background
Unused pharmaceuticals are currently a public health problem. This study aimed to identify unused pharmaceuticals, research practices about the disposal methods, classify the medicines according to Anatomical Therapeutic Chemical codes (ATC) and, to determine the number of unused medicines.

Methods
The study was designed as a cross-sectional study. Data were collected between April and August 2023 in Burdur-Türkiye by non-probability sampling technique (convenience method). Pharmaceuticals were classified according to ATC. Statistical Package for Social Science SPSS (V.24) package program was used for data analysis.

Results
A total of 1120 people, 1005 in the first sample group and 115 in the second sample group, participated in the study. Findings of first sample group: A total of 4097 boxes of unused pharmaceuticals (4.7 ± 4.3 boxes/per capita) were detected. It was found that pharmaceuticals were stored in areas such as kitchens (59.1%) and refrigerators (38.6%), the reason for keeping them was reuse (41%), and the disposal practice was household garbage (81%). Paracetamol (648 boxes), Other cold preparation (303 boxes), Dexketoprofen (239 boxes), Diclofenac (218 boxes), Amoxicillin and beta-lactamase inhibitor (190 boxes) were found to be the most frequently unused pharmaceuticals. Using the unused medicines at home without consulting a physician was 94.1% (self-medication). Findings of second sample group: Of the 6189 dosage forms in 265 boxes pharmaceutical, 3132(50.6%) dosage forms were used and 3057(49.4%) were found to be unused.

Conclusion
There is a significant amount and number of unused medicines in households, and self-medication is common. Medicines are not properly disposed of and some of them expire. Public information is needed. A “drug take-back system” for unused medicines can be useful in solving this problem.
Nursing students’ perspectives on patients' safety competencies: a cross-sectional survey
Authors: Khider Yasmin Ibrahim Abdelkader , Allam Shaimaa Mohamed Elghareeb , Zoromba Mohamed A. , Elhapashy Heba Mohammed Mahmoud 
Published: May 2024

Abstract
Background
Nurses constitute the largest body of healthcare professionals globally, positioning them at the forefront of enhancing patient safety. Despite their crucial role, there is a notable gap in the literature regarding the comprehension and competency of nursing students in patient safety within Egypt. This gap underscores the urgent need for research to explore how nursing students perceive patient safety and the extent to which these competencies are integrated into their clinical and educational experiences. Understanding these perspectives is essential for developing targeted interventions that can significantly improve patient safety outcomes. The objective of this study was to fill this gap by assessing the perspectives of nursing intern students on patient safety competencies, thereby contributing to the global efforts in enhancing patient safety education and practice.

Methods
In this research, a cross-sectional study design was employed to investigate the topic at hand. A purposive sample of 266 nursing intern students was enrolled from the Faculty of Nursing at Mansoura University. The data were collected using a patient safety survey. Subsequently, the collected data underwent analysis through the application of descriptive and inferential statistical techniques using SPSS-20 software.

Results
Among the studied intern nursing students, we found that 55.3% and 59.4% of the involved students agreed that they could understand the concept of patient safety and the burden of medical errors. Regarding clinical safety issues, 51.1% and 54.9% of the participating students agreed that they felt confident in what they had learned about identifying patients correctly and avoiding surgical errors, respectively. Concerning error reporting issues, 40.2% and 37.2% of the involved students agreed that they were aware of error reports and enumerated the barriers to incident reporting, respectively. There was a statistically significant difference between the nursing student patient safety overview domain and their age (p = 0.025).

Conclusions
Our study's compelling data demonstrated that intern students who took part in the patient safety survey scored higher overall in all patient safety-related categories. However, problems with error reporting showed the lowest percentage. The intern students would benefit from additional educational and training workshops to increase their perspectives on patients' safety competencies.
Nurse perceptions of practice environment, quality of care and patient safety across four hospital levels within the public health sector of South Africa
Authors: Tenza Immaculate Sabelile , Blignaut Alwiena J. , Ellis Suria M. , Coetzee Siedine K. 
Published: May 2024

AbstractImproving the practice environment, quality of care and patient safety are global health priorities. In South Africa, quality of care and patient safety are among the top goals of the National Department of Health; nevertheless, empirical data regarding the condition of the nursing practice environment, quality of care and patient safety in public hospitals is lacking.AimThis study examined nurses’ perceptions of the practice environment, quality of care and patient safety across four hospital levels (central, tertiary, provincial and district) within the public health sector of South Africa.MethodsThis was a cross-sectional survey design. We used multi-phase sampling to recruit all categories of nursing staff from central (n = 408), tertiary (n = 254), provincial (n = 401) and district (n = 244 [largen = 81; mediumn = 83 and smalln = 80]) public hospitals in all nine provinces of South Africa. After ethical approval, a self-reported questionnaire with subscales on the practice environment, quality of care and patient safety was administered. Data was collected from April 2021 to June 2022, with a response rate of 43.1%. ANOVA type Hierarchical Linear Modelling (HLM) was used to present the differences in nurses’ perceptions across four hospital levels.ResultsNurses rated the overall practice environment as poor (M = 2.46; SD = 0.65), especially with regard to the subscales of nurse participation in hospital affairs (M = 2.22; SD = 0.76), staffing and resource adequacy (M = 2.23; SD = 0.80), and nurse leadership, management, and support of nurses (M = 2.39; SD = 0.81). One-fifth (19.59%;n = 248) of nurses rated the overall grade of patient safety in their units as poor or failing, and more than one third (38.45%;n = 486) reported that the quality of care delivered to patient was fair or poor. Statistical and practical significant results indicated that central hospitals most often presented more positive perceptions of the practice environment, quality of care and patient safety, while small district hospitals often presented the most negative. The practice environment was most highly correlated with quality of care and patient safety outcomes.ConclusionThere is a need to strengthen compliance with existing policies that enhance quality of care and patient safety. This includes the need to create positive practice environments in all public hospitals, but with an increased focus on smaller hospital settings.
Evolutionary genomics of socially polymorphic populations of Pogonomyrmex californicus
Authors: Errbii Mohammed , Ernst Ulrich R. , Lajmi Aparna , Privman Eyal , Gadau Jürgen , Schrader Lukas 
Published: May 2024

Abstract
Background
Social insects vary considerably in their social organization both between and within species. In the California harvester ant, Pogonomyrmex californicus (Buckley 1867), colonies are commonly founded and headed by a single queen (haplometrosis, primary monogyny). However, in some populations in California (USA), unrelated queens cooperate not only during founding (pleometrosis) but also throughout the life of the colony (primary polygyny). The genetic architecture and evolutionary dynamics of this complex social niche polymorphism (haplometrosis vs pleometrosis) have remained unknown.

Results
We provide a first analysis of its genomic basis and evolutionary history using population genomics comparing individuals from a haplometrotic population to those from a pleometrotic population. We discovered a recently evolved (< 200 k years), 8-Mb non-recombining region segregating with the observed social niche polymorphism. This region shares several characteristics with supergenes underlying social polymorphisms in other socially polymorphic ant species. However, we also find remarkable differences from previously described social supergenes. Particularly, four additional genomic regions not in linkage with the supergene show signatures of a selective sweep in the pleometrotic population. Within these regions, we find for example genes crucial for epigenetic regulation via histone modification (chameau) and DNA methylation (Dnmt1).

Conclusions
Altogether, our results suggest that social morph in this species is a polygenic trait involving a potential young supergene. Further studies targeting haplo- and pleometrotic individuals from a single population are however required to conclusively resolve whether these genetic differences underlie the alternative social phenotypes or have emerged through genetic drift.
Comparative transcriptomic analysis provides insights into the genetic networks regulating oil differential production in oil crops
Authors: Chen Jinwen , Hu Yan , Zhao Ting , Huang Chujun , Chen Jiani , He Lu , Dai Fan , Chen Shuqi , Wang Luyao , Jin Shangkun , Zhang Tianzhen 
Published: May 2024

AbstractBackgroundPlants differ more than threefold in seed oil contents (SOCs). Soybean (Glycine max), cotton (Gossypium hirsutum), rapeseed (Brassica napus), and sesame (Sesamum indicum) are four important oil crops with markedly different SOCs and fatty acid compositions.ResultsCompared to grain crops like maize and rice, expanded acyl-lipid metabolism genes and relatively higher expression levels of genes involved in seed oil synthesis (SOS) in the oil crops contributed to the oil accumulation in seeds. Here, we conducted comparative transcriptomics on oil crops with two different SOC materials. In common,DIHYDROLIPOAMIDE DEHYDROGENASE,STEAROYL-ACYL CARRIER PROTEIN DESATURASE,PHOSPHOLIPID:DIACYLGLYCEROL ACYLTRANSFERASE, and oil-body protein genes were both differentially expressed between the high- and low-oil materials of each crop. By comparing functional components of SOS networks, we found that the strong correlations between genes in “glycolysis/gluconeogenesis” and “fatty acid synthesis” were conserved in both grain and oil crops, withPYRUVATE KINASEbeing the common factor affecting starch and lipid accumulation. Network alignment also found a conserved clique among oil crops affecting seed oil accumulation, which has been validated inArabidopsis. Differently, secondary and protein metabolism affected oil synthesis to different degrees in different crops, and high SOC was due to less competition of the same precursors. The comparison ofArabidopsismutants and wild type showed thatCINNAMYL ALCOHOL DEHYDROGENASE 9, the conserved regulator we identified, was a factor resulting in different relative contents of lignins to oil in seeds. The interconnection of lipids and proteins was common but in different ways among crops, which partly led to differential oil production.ConclusionsThis study goes beyond the observations made in studies of individual species to provide new insights into which genes and networks may be fundamental to seed oil accumulation from a multispecies perspective.