bluuebunny/crossref_metadata_2025_split huggingface dataset:
Developmental deficits, synapse and dendritic abnormalities in a Clcn4 KO autism mice model : Endophenotypic target for ASD
Authors: Kim Yeni , Lee Seong Mi , Choi Yura , Kim Dayeon , Jeong Ha Jin , Do Young Ho , Jung Sohee , Lee Bomee , Choi Hyung Joon , Kim Suhyeon , Oh Jung-Min , Han Jinju , Jeon Songhee 
Published: October 2023

Abstract

Chloride voltage-gated channel-4 (Clcn4) deletion is associated with autism spectrum disorder (ASD) in humans. Previous studies reported that Clcn4 knockout (KO) mice do not exhibit neurological alterations in the brain. In the present study, Clcn 4 KO C57BL/6 mice was assessed using three chamber test and marble burying test at 7 to 8 weeks of age, KO mice showed reduction in social interaction and an increase in repetitive behavior mimicking ASD. RNA expression analysis from Clcn4 knockdown mice neural progenitor cells (NPCs) showed significant decreases in genes related to neuronal projection and synapse development, suggesting aberrance in the early stage of neuronal differentiation from NPCs. In primary cortical neurons, the cell viability, the length of dendritic branches, the number of MAP2 positive cells and the phosphorylation levels of Synapsin 1 and PSD95 were decreased in Clcn4 KO mice compared to wild-type mice, all of which were reversed by Risperidone. In the prefrontal cortex of Clcn4 KO mouse, the phosphorylation levels of Synapsin 1, ERK, CREB and PSD 95 were decreased. Risperidone treatment for 2 weeks in Clcn4 KO mouse at 5 weeks of age, reversed the cognitive impairment in the Y maze test and the passive avoidance test and improved ASD associated behaviors in three chamber test and marble burying test. Risperidone treatment increased the expression levels of PSD95 and CDK5 and the phosphorylation level of Synapsin 1 in the KO mice brain. Finally, risperidone restored the number of dendritic branches in human neurons derived from CLCN4 KD NPCs. In conclusion, the results show that CLCN4 affect early social development through regulation of dendritic outgrowth and synapse remodeling. Moreover, risperidone can reverse the Clcn4 KO induced aberration in early development in addition to synapse and dendrite deficits suggesting an endophenotypic targets for drug development in ASD.
Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective cohort study
Authors: Naessén Sabine , Thunström Sofia , Wide Ulla , Landin-Wilhelmsen Kerstin , Berntorp Kerstin , Bryman Inger , Krantz Emily Amundson , Wahlberg Jeanette , Ekman Bertil , Isaksson Magnus , Karlsson Anders , Bergström Ingrid 
Published: October 2023

Abstract

Turner syndrome (TS) is a genetic condition characterized by partial or complete monosomy X. A reduced life expectancy has been shown in TS, depending on an increased risk of aortic dissection, and ischemic heart disease. Studies covering the occurrence of psychiatric conditions are sparse within TS. Several case reports describe concomitant TS and neuropsychiatric abnormalities that may represent a pathogenetic link to genetics, as well as feature correlates of TS. The aim of this study was to determine the presence, and the frequency of psychiatric diagnosis in women with TS in a Swedish cohort followed during 25 years’ time. Statistics from the entire female population in Sweden of corresponding age was used as reference. Data were retrieved from clinical examinations and validated from the National Board of Health and Welfare registries for women with TS (n = 487), aged 16 to 84 years, with respect to mental health disorders. The most common diagnoses were mood and anxiety disorders. There was no increase in psychiatric diagnosis within the group with time, nor correlation to specific karyotype or somatic comorbidity as congenital heart disease and hypothyroidism, hormonal treatment or childbirth. In addition, the frequency of psychiatric diagnosis in TS was lower than in the population-based data. Further investigations are needed in the view of the fact that women with Turner syndrome should not be burden with more severe diagnosis.
Shared genetic architecture and causality between autism spectrum disorder and irritable bowel syndrome, pain, and fatigue
Authors: Li Yiran , Xie Tian , Snieder Harold , Hartman Catharina 
Published: October 2023

Abstract

Autism spectrum disorder (ASD) often co-occurs with functional somatic syndromes (FSS), such as irritable bowel syndrome (IBS), pain, and fatigue. However, the underlying genetic mechanisms and causality have not been well studied. Using large-scale genome-wide association study (GWAS) data, we investigated the shared genetic architecture and causality between ASD and FSS. Specifically, we first estimated genetic correlations and then conducted a multi-trait analysis of GWAS (MTAG) to detect potential novel genetic variants for single traits. Afterwards, polygenic risk scores (PRS) of ASD were derived from GWAS and MTAG to examine the associations with phenotypes in the large Dutch Lifelines cohort. Finally, we performed Mendelian randomization (MR) to evaluate the causality. We observed positive genetic correlations between ASD and FSS (IBS: rg = 0.27, adjusted p = 2.04×10− 7; pain: rg = 0.13, adjusted p = 1.10×10− 3; fatigue: rg = 0.33, adjusted p = 5.21×10− 9). Leveraging these genetic correlations, we identified 4 novel genome-wide significant independent loci for ASD by conducting MTAG, including NEDD4L, MFHAS1, RP11-10A14.4, and C8orf74. PRS of ASD derived from both GWAS and MTAG were associated with ASD and FSS symptoms in Lifelines, and MTAG-derived PRS showed a bigger effect size, larger explained variance, and smaller p-values. We did not observe significant causality using MR. Our study provided new evidence of shared genetic architecture between ASD and FSS, specifically with IBS, pain, and fatigue. The findings confirm the genetic associations between ASD and FSS, and advance our understanding of the mechanisms underlying co-occurrence.
Insufficient stem antetorsion is a crucial risk factor for posterior hip dislocation in patients undergoing THA for femoral neck fractures: A retrospective analysis
Authors: ZHOU Xiaoxiao , YE Xiuzhang , GUO Shengyang , LIU Ju , SUN Zhenguo , YANG Yang , JI Houlin 
Published: October 2023

Abstract
Background
The role of acetabular and femoral component positions with respect to the risk of post-operative instability and dislocation remains debated. In this study, we aimed to identify potential risk factors for early dislocation following primary total hip arthroplasty (THA) for displaced intracapsular femoral neck fractures (FNF) using radiological measurements.
Methods
We retrospectively analyzed data for patients who underwent cementless primary THA for FNF using a posterolateral approach between January 2018 and December 2021. Follow-up duration, age, sex, affected side, and mean time from THA to dislocation were recorded. Leg-length inequality, abductor lever arm, vertical and horizontal femoral offsets, vertical and horizontal hip centers of rotation, abduction, anteversion of the acetabulum and femoral prosthesis, and combined anteversion were measured.
Results
The study sample included 17 men and 34 women, with 21 and 30 patients undergoing left- and right-hip operations, respectively. The mean patient age was 70.18 ± 7.64 years, and the mean follow-up duration was 27.73 ± 13.52 months. The mean time between THA and dislocation was 1.58 ± 0.79 months. Seven patients (13.73%) sustained posterior dislocation of the hip. The abduction angle (36.05 ± 6.82° vs. 45.68 ± 8.78°) (p = 0.008) and anteversion of the femoral prosthesis (8.26 ± 4.47° vs. 19.47 ± 9.01°) (p = 0.002) were significantly lower in the dislocation group than in the control group. There were no significant differences in other parameters.
Conclusions
Insufficient stem antetorsion, lower abduction angle of the acetabular component, and joint hyperlaxity were associated with a high risk of dislocation. Insufficient stem antetorsion can shift the neck of the prosthesis in the posterosuperior direction, while joint hyperlaxity can make it unstable. When combined with a lower abduction angle of the acetabular component, especially in patients with deep flexion or internal rotation of the flexed hip joint and knees, impingement may then occur in the neck of the prosthesis and cup component, ultimately resulting in posterior dislocation. Based on these findings, surgeons should aim to restore the acetabular component and neck of the prosthesis to appropriate spatial locations. These results provide new insight into risk factors for hip dislocation in patients undergoing primary THA for FNF and may aid in reducing the risk of instability and dislocation.
Level of evidence:
Prospective comparative study Level II.
A Multicenter Registry Protocol for Suicidal Behaviors in Iran: The SUBRP Study (2019-2022)
Authors: Fathi Marjan , Malakouti Seyed Kazem , Rezaeian Mohsen , Sayehmiri Kourosh , Sheikhtaheri Abbas , Ghaemmaghamfarahani Ida , Hajebi Ahmad , Ghanbari Behrooz , Etesam Farnaz 
Published: October 2023

Abstract
Background
Considering the limited information on suicide determinants, especially in low- and middle-income countries, the establishment and promotion of a suicide registration system are among the prominent strategies for suicide prevention programs around the world.
Objectives
The SUBRP protocol describes the purpose, design, methodology, and statistics used to register suicide, suicide attempt, and self-harm in the two provinces of Iran by the latest World Health Organization Guidelines.
Method
The Suicidal Behavior Registration Program (SUBRP) is an observational, prospective, and multicenter study, which is designed in five stages: a) literature review, b) infrastructure establishment, c) database and software design, d) training and implementing) analysis of obtained data, as well as examining opportunities and challenges. Considering the number of suicidal behaviors in the country, the research samples include cases of suicide attempts and self-harm in the two referral hospitals in Tehran and three hospitals in the three cities of Ilam province.
Result
This manuscript outlines the protocol of the forthcoming study.
Ethics and publication: The ethics board of Iran University of Medical Sciences approved this observational study. Enrollment began in November 2019 to mid-2022. Publication programs include presentations at scientific conferences and scientific publications.
Discussion
The design and implementation of the suicide registration program help researchers and policymakers make more innovative and effective interventions to prevent suicide by creating a comprehensive database of suicidal behavior determinants.
Risk Factors and Management of Gastrointestinal Bleeding in Patients With or Without Antiplatelet and Anticoagulation therapy: a Multicenter Real-world Prospective Study
Authors: Hao Wenlin , Liu Anlei , Zhu Huadong , Yu Xuezhong , Chen Gang , Xu Jun 
Published: October 2023

Abstract

Background
Antiplatelet and anticoagulation drugs complicate acute gastrointestinal bleeding (GIB) patients. Limited data has been presented about the risk factors and patient management. This study aimed to explore the association between previous antiplatelet or anticoagulant drug usage and clinical outcomes in GIB patients in order to further improve awareness and optimize treatment.
Methods
We conducted a multicenter, non-interventional, real-world prospective study in 106 hospitals in 23 provinces in China. GIB patients confirmed in the emergency department were included and were grouped according to previous drug histories. Univariate analysis, multivariate logistic regression, and multivariate stratification models were performed separately to investigate the associations.
Results
A total of 2299 patients (57.23 ± 17.21 years old, 68.34% male) were included, of whom 20.10% and 2.91% received antiplatelet and anticoagulation therapy, respectively. The all-cause 28-day mortality rates in patients without antiplatelet or anticoagulants, patients undergoing antiplatelet treatment, and patients with anticoagulation therapy were 2.82%, 4.55%, and 10.45%, respectively. After adjusting for confounding factors, both antiplatelet [odd ratio (OR), 2.92; 95% confidence interval (CI), 1.48–5.76; p = 0.0019] and anticoagulation therapy (OR, 8.87; 95% CI, 3.02–26.02; p < 0.001) were associated with higher 28-day mortality. In the subgroup analysis, blood transfusion, especially red blood cell transfusion, in patients undergoing antiplatelet and anticoagulation therapy was associated with a decreased death risk.
Conclusion
We confirmed an association between concurrent antiplatelet or anticoagulation therapy in GIB patients and elevated 28-day mortality. Blood transfusions could improve poor outcomes in such patients.
Moving from theory to practice: Barriers and facilitators to physiotherapy students’ use of the biopsychosocial approach in the management of chronic pain
Authors: Sujee Laeeqa , Munshi Shehnaz , Christofides Nicola 
Published: October 2023

Abstract

Background: Chronic pain poses a challenge to the health and well-being of people globally. A biopsychosocial approach is recommended for the management of chronic pain. Little is known about how the curriculum prepares students to apply this approach in practice. The aim of this study was to explore the facilitators and barriers for the use of the biopsychosocial approach, as experienced by physiotherapy students.Methods:The study utilised a case study approach located within an interpretive paradigm. Purposive and snowball sampling were used to select physiotherapy students in their clinical years. In-depth interviews were conducted over Microsoft Teams using a semi-structured interview guide. The interviews were recorded, transcribed and coded after which thematic analysis was conducted.Results:The study found that students were aware of the biopsychosocial approach and understood its importance in theory but had difficulty translating their theoretical understanding to practice. Facilitators to the use of the approach included positive attitudes towards patients with chronic pain, good interpersonal skills, emotional awareness, effective clinical supervision, guidance from supervisors and personal experience with pain. Barriers to the use of this approach included negative attitudes towards patients with chronic pain, clinical supervision and minimal interaction with members of the interdisciplinary team.Conclusion:The study highlights the gap between theoretical training and practice when using the biopsychosocial model when treating patients with chronic pain. The importance of supporting and guiding students when treating patients with chronic pain is emphasised. The use of a biopsychosocial approach and an interdisciplinary team must be encouraged in practice.
Utilizing Gradient Boosting Machine Algorithms to Analyze the Causal Impact of Antimicrobial Agents on Recovery Times of fever and Hospital Lengths of Stay in Non-Critical Pediatric Patients with Acute Viral Respiratory Tract Infections
Authors: Qahtani Mohammed Al , AlFulayyih Saleh Fahad , Baridi Sarah Saleh Al , Alomar Sara Amer , Alshammari Ahmed Nawfal , Albuaijan Reem Jassim , Uddin Mohammed Shahab 
Published: October 2023

Abstract

Background
The widespread prescribing of antibiotics in paediatric patients with upper respiratory tract infections (URTIs) exacerbates global concerns about antimicrobial resistance. The purpose of this study is to look at the effect of antibiotics on hospital stay duration and fever resolution in paediatric patients who have been diagnosed with viral infections using a comprehensive multiplex polymerase chain reaction (PCR) respiratory panel.
Methods
From October 2016 to December 2021, we performed a careful retrospective cohort analysis on paediatric patients confirmed with viral infections using nasopharyngeal aspirates at Imam Abdulrahman Bin Faisal Hospital. We accurately balanced the cohorts’ getting antibiotics versus those not receiving them using the Gradient Boosting Machine (GBM) technique for propensity score matching, ensuring a standardised mean difference threshold of 0.15.
Results
Human Rhinovirus/enterovirus was the most common (44.5%) among 238 paediatric patients, followed by respiratory syncytial virus (18.1%). In 8.4% of cases, significant co-infections were found, primarily involving HRV/EV and RSV. According to our survey-weighted linear regression model, antibiotic administration increased hospital LOS by an average of 2.19 days (p-value 0.00). Surprisingly, the presence of diarrhoea resulted in a 2.26-day decrease in LOS, while higher albumin levels resulted in a 0.40-day decrease in LOS. Neither fever nor CRP levels had a significant effect on LOS. The Kaplan-Meier curve comparing Time to Recovery from Fever for Abx0 (antibiotic-free) and Abx1 (antibiotic-received) groups indicated no significant difference in recovery length (p-value: 0.391), with a hazard ratio of 0.84 (CI: 0.57–1.2), confirming that antibiotic administration had no effect on recovery duration.
Conclusions
Our findings provide an insightful look at the common antibiotic prescribing practises for paediatric patients with acute viral respiratory infections. Although antibiotics did not speed up recovery, they were associated with longer hospital stays. The study emphasises the importance of clinicians exercising caution when giving antibiotics to paediatric patients with proven viral infections, especially when their clinical status is non-critical.
Responses of Rhizosphere and Root Surface Bacterial Communities and biomass of Cunninghamia lanceolata and Schima superba Seedlings to Nitrogen Forms
Authors: Liang Haiyan , Wang Lidong , Wang Yanru , Quan Xiaoqiang , Li Xiaoyu , Xiao Yaning , Yan Xiaoli 
Published: October 2023

Abstract
Background and aims
Ammonium nitrogen (NH4+-N) and nitrate nitrogen (NO3−-N) that can be absorbed and utilized by plants are heterogeneously distribute in nature soil, which will affect the plant growth and bacterial communities. This study aims to investigate the effects of single and mixed nitrogen (N) on bacterial communities in rhizosphere and root surface of Cunninghamia lanceolata (CR, CRS) and Schima superba (SR, SRS) seedlings.
Methods
Three N ratios NH4+-N: NO3−-N = 10:0, 5:5(control, CK), 0:10 were set to grow seedlings in pot culture with sand. The bacteria in the rhizosphere and root surface of the tree species were determined by High-throughput sequencing (16S rDNA), and bacterial numbers and growth indicators were fitted linearly.
Results
Compared with the CK, the 0:10 increased the bacterial numbers, richness and diversity in CR, while the 10:0 and 0:10 were both decreased them in CRS, SR and SRS, which was more similar between the 0:10 and CK. Overall, the bacterial numbers and richness were: CR > SR > CRS > SRS, but no obvious rule in diversity. The dominant bacterial phyla in CR and CRS were mainly Proteobacteria and Bacteroidota, while in SR and SRS were mainly Proteobacteria and Acidobacteriota. Except for the root biomass of S. superba, the linear relationship of other indicators in the rhizosphere were greater than root surface.
Conclusion
Mixed N was more conducive to bacterial community proliferation, and there were significant differences between the two tree species and the bacterial communities at different rhizosphere sites.
Medical student perceptions of mental illness: a cross-sectional transnational study in two medical schools
Authors: Rees Annie , Cuthbert Callum , Shah Viraj , Rong Lim , Peh Daniel , Baptista Ana , Smith Susan 
Published: October 2023

Abstract
Background:
Despite shifting global attitudes, mental illness remains highly stigmatised amongst practicing doctors. This has wider implications on doctors’ training and preparation to care for patients with mental illness. Despite remaining under-researched in the literature, there is need for exploration of the presence and mitigation of stigma in early medical education to prevent such attitudes propagating into clinical practice. Thus, this study explores whether stigmatising attitudes are detectable amongst medical students in London and Singapore and examines whether they are ameliorated by specific curricular and welfare features of formal medical education, utilising the Mental Illness Stigma Framework.
Methods:
A mixed-methods approach was adopted. Medical students at Imperial College London (UK; n = 211) and Nanyang Technological University (Singapore; n = 141) completed a validated scale (the OMS-HC-15) to assess attitudes towards mental illness. Semi-structured interviews were conducted (Imperial: n = 12, NTU: n = 8) until theoretical saturation was reached. Quantitative data were analysed descriptively and comparatively using SPSS and interview data subjected to inductive thematic analysis.
Results:
No differences in overall stigma scores were found between the two schools, or when comparing the year groups within each school. Four themes were identified: student perceptions, impacts of medical school culture, university support, and curricular impacts on mental illness perceptions. Themes allowed identification of aspects of medical school that were well-received and warranted further emphasis by students, alongside areas student deemed important to consider in developing their holistic understanding of mental illness.
Conclusion:
Average stigma scores obtained were lower than those measured in prior literature assessing medical student stigma utilising the same scale, perhaps explained by cultural differences and improved social attitudes. Curricular improvements such as earlier psychiatric teaching and sharing of personal stories may improve future stigma scores as students’ progress through the course. Specific welfare-based changes to formal support systems were also deemed to be beneficial by students. Stigma scores were comparable between UK and Singapore medical students and demonstrated less prejudice compared to published literature on students in other countries in previous years. The impacts of welfare and curriculum in relation to societal influence on students’ attitudes warrants further investigation, as does medical students’ self-stigma.
Difficult toddler temperament – Prevalence and associated factors at 18-month follow-up of a birth cohort
Authors: Bhadelia A'ishah , Barr Karlen R , John James Rufus , Jalaludin Bin , Dissanyake Cheryl , Williams Katrina , Woolfenden Susan , Eapen Valsamma 
Published: October 2023

Abstract

Background
A difficult temperament, when coupled with other risk factors, may lead to mental health problems in childhood, adolescence, and adulthood. The aim of this study was to investigate the prevalence of parental perception of difficult temperament in toddlers in a population cohort and identify associated individual and family-level socio-demographic risk factors.
Methods
The prevalence of parental perception of difficult temperament was derived from items in the 18-month follow-up questionnaire within the Watch Me Grow (WMG) longitudinal birth cohort study in a multicultural and socioeconomically disadvantaged community in Sydney, Australia. Data was available for 500 children and their parents. Primary analysis included multivariate logistic regression to assess significant risk factors associated with a difficult temperament.
Results
Parental perception of difficult temperament in the cohort was 7.3% (n = 492). Findings of the multivariate logistic regression showed that screen time > 2 hours a day (AOR 2.43, 95% CI: 1.2, 4.9), child not being read to (AOR 3.92, 95% CI: 1.8, 8.5), and family history of mental health problems (AOR 2.69, 95% CI: 1.1, 6.5) significantly increased the odds of having a difficult temperament.
Conclusions
Toddlers with a difficult temperament were less likely to have received stimulatory experiences and their families were more likely to be under greater stress. The findings emphasise the importance of parental support and anticipatory guidance in promoting nurturing care to facilitate child health and development, particularly in disadvantaged communities.