bluuebunny/crossref_metadata_2025_split huggingface dataset:
A holistic approach to maximise diagnostic output in trio exome sequencing
Authors: von Hardenberg Sandra , Wallaschek Hannah , Du Chen , Schmidt Gunnar , Auber Bernd 
Published: May 2023

IntroductionRare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, parental sequencing can be applied (“trio WES”).MethodsWe assessed the diagnostic rate of routine trio WES including analysis of copy number variants in 224 pediatric patients during an evaluation period of three years.ResultsTrio WES provided a diagnosis in 67 (30%) of all 224 analysed children. The turnaround time of trio WES analysis has been reduced significantly from 41 days in 2019 to 23 days in 2021. Copy number variants could be identified to be causative in 10 cases (4.5%), underlying the importance of copy number variant analysis. Variants in three genes which were previously not associated with a clinical condition (GAD1, TMEM222 and ZNFX1) were identified using the matching tool GeneMatcher and were part of the first description of a new syndrome.DiscussionTrio WES has proven to have a high diagnostic yield and to shorten the process of identifying the correct diagnosis in paediatric patients. Re-evaluation of all 224 trio WES 1–3 years after initial analysis did not establish new diagnoses. Initiating (trio) WES as a first-tier diagnostics including copy number variant detection should be considered as early as possible, especially for children treated in ICU, if a monogenetic disease is suspected.
Profile and potential role of novel metabolite biomarkers, especially indoleacrylic acid, in pathogenesis of neuromyelitis optica spectrum disorders
Authors: Bian Jiangping , Sun Jiali , Chang Haoxiao , Wei Yuzhen , Cong Hengri , Yao Mengyuan , Xiao Fuyao , Wang Huabing , Zhao Yaobo , Liu Jianghong , Zhang Xinghu , Yin Linlin 
Published: May 2023

Background: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune central nervous system (CNS) inflammatory and demyelinating disorder that can lead to serious disability and mortality. Humoral fluid biomarkers with specific, convenient, and efficient profiles that could characterize and monitor disease activity or severity are very useful. We aimed to develop a sensitive and high-throughput liquid chromatography–tandem mass spectrometry (LC-MS)/MS-based analytical method for novel biomarkers finding in NMOSD patients and verified its function tentatively.Methods: Serum samples were collected from 47 NMOSD patients, 18 patients with other neurological disorders (ONDs), and 35 healthy controls (HC). Cerebrospinal fluid (CSF) samples were collected from 18 NMOSD and 17 OND patients. Three aromatic amino acids (phenylalanine, tyrosine, and tryptophan) and nine important metabolites that included phenylacetylglutamine (PAGln), indoleacrylic acid (IA), 3-indole acetic acid (IAA), 5-hydroxyindoleacetic acid (HIAA), hippuric acid (HA), I-3-carboxylic acid (I-3-CA), kynurenine (KYN), kynurenic acid (KYNA), and quinine (QUIN) were analyzed by using the liquid chromatography–tandem mass spectrometry (LC-MS/MS)-based method. The profile of IA was further analyzed, and its function was verified in an astrocyte injury model stimulated by NMO-IgG, which represents important events in NMOSD pathogenesis.Results: In the serum, tyrosine and some of the tryptophan metabolites IA and I-3-CA decreased, and HIAA increased significantly in NMOSD patients. The CSF levels of phenylalanine and tyrosine showed a significant increase exactly during the relapse stage, and IA in the CSF was also increased markedly during the relapse and remission phases. All conversion ratios had similar profiles with their level fluctuations. In addition, the serum IA levels negatively correlated with glial fibrillary acidic protein (GFAP), and neurofilament light (NfL) levels in the serum of NMOSD patients were measured by using ultra-sensitive single-molecule arrays (Simoa). IA showed an anti-inflammatory effect in an in vitro astrocyte injury model.Conclusion: Our data suggest that essential aromatic amino acid tryptophan metabolites IA in the serum or CSF may serve as a novel promising biomarker to monitor and predict the activity and severity of NMOSD disease. Supplying or enhancing IA function can promote anti-inflammatory responses and may have therapeutic benefits.
Comparison of the physiological responses and time-motion characteristics during football small-sided games: effect of pressure on the ball
Authors: Chen Xiaohu , Zheng Rui , Xiong Bo , Huang Xiaoling , Gong Bingnan 
Published: May 2023

Introduction: This study aimed to compare the effects of pressure on the ball on physiological responses and time-motion characteristics during football small-sided games between elite youth male players.Methods: 56 elite male youth football players (age: 15.43 ± 0.52 years) performed a 2+GK vs. 2+GK game on a 30 m × 15 m pitch area with two playing conditions: 1) free play (FP), the player has no limitation to play; 2) pressure on the ball (PB), the player has directly and aggressively closed down space (located within 1.5 m) between themselves and the opposition player with the ball and can compete for possession. The percentage of time spent in different maximum heart rate (HRmax) zones, mean heart rate, blood lactate acid concentration, total distance covered, distance covered in three speed zones (sprint, high speed, and moderate speed), number of high speed runs, number of sprint runs, top speed, number of direction changes, and ball recovery time were monitored.Results: We found very significantly higher number of high speed runs (p &lt; 0.001; ES = 1.154), number of direction changes (p &lt; 0.001; ES = 2.347), ball recovery time (p &lt; 0.001; ES = 3.529), percentage of time spent in 90%–100% HRmax (p &lt; 0.001; ES = 3.033), mean heart rate (p &lt; 0.001; ES = 1.940), blood lactate acid concentration (p &lt; 0.001; ES = 2.245) and significantly higher high speed running distance covered (p = 0.004; ES = 0.520) in the PB condition. Conversely, the FP condition showed very significantly higher moderate speed running distance covered (p &lt; 0.001; ES = 1.814) and significantly higher percentage of time spent in 80%–90% HRmax (p = 0.012; ES = 0.440). No significant differences were revealed on sprint running distance covered (p = 0.407; ES = 0.140), number of sprint runs (p = 0.103; ES = 0.279), top speed (p = 0.130; ES = 0.258) and percentage of time spent in 60%–70% HRmax (p = 0.106; ES = 0.276), 70%–80% HRmax (p = 0.358; ES = 0.155).Discussion: We found that pressure on the ball had a substantial impact on the intensity of training, as evidenced by a significantly increased high speed running performance, number of directional changes, percentage of time spent at 90%–100% of maximum heart rate, mean heart rate, and blood lactate acid concentration. Additionally, ball recovery time decreased significantly.
Association between the SLC6A11 rs2304725 and GABRG2 rs211037 polymorphisms and drug-resistant epilepsy: a meta-analysis
Authors: Hu Xuemei , Zhao Mingyang , Yang Xue , Wang Dongsen , Wu Qingjian 
Published: May 2023

Background: Previous studies have shown that SLC6A11 and GABRG2 are linked to drug-resistant epilepsy (DRE), although there have been conflicting results in the literature. In this study, we systematically assessed the relationship between DRE and these two genes.Methods: We systematically searched the PubMed, Embase, Cochrane Library, Web of Science, Google Scholar, Wanfang Data, CNKI, and VIP databases. To clarify whether heterogeneity existed between studies, tools such as the Q-test and I2 statistic were selected. According to study heterogeneity, we chose fixed- or random-effects models for analysis. We then used the chi-squared ratio to evaluate any bias of the experimental data.Results: In total, 11 trials and 3,813 patients were selected. To investigate the relationship with DRE, we performed model tests on the two genes separately. The results showed that SLC6A11 rs2304725 had no significant correlation with DRE risk in the allele, dominant, recessive, and additive models in a pooled population. However, for the over-dominant model, DRE was correlated with rs2304725 (OR = 1.08, 95% CI: 0.92–1.27, p = 0.33) in a pooled population. Similarly, rs211037 was weakly significantly correlated with DRE for the dominant, recessive, over-dominant, and additive models in a pooled population. The subgroup analysis results showed that rs211037 expressed a genetic risk of DRE in allele (OR = 1.01, 95% CI: 0.76–1.35, p = 0.94), dominant (OR = 1.08, 95% CI: 0.77–1.50, p = 0.65), and additive models (OR = 1.14, 95% CI: 0.62–2.09, p = 0.67) in an Asian population.Conclusion: In this meta-analysis, our results showed that SLC6A11 rs2304725 and GABRG2 rs211037 are not significantly correlated with DRE. However, in the over-dominant model, rs2304725 was significantly correlated with DRE. Likewise, rs211037 conveyed a genetic risk for DRE in an Asian population in the allele, dominant, and additive models.
Four attachment-based categories of emotion regulation in adolescent psychic troubles
Authors: Robin Marion , Surjous Luc , Belbèze Jean , Bonnardel Lucile , Lamas Claire , Silva Jérôme , Peres Victoire , Corcos Maurice 
Published: May 2023

IntroductionEmotion regulation is altered in many psychiatric disorders in adolescence, but the understanding of mechanisms that underlie this alteration is still poor.MethodsThe PERCEPT study explores alexithymia, empathy, facial emotion recognition (FER) and defence mechanisms in a sample of adolescents in psychiatric care (n = 61, 74% of girls, mean age = 15.03 y.o.), in relation with participants’ attachment styles.ResultsResults revealed correlations between attachment dimensions and all of the emotion regulation variables, suggesting that attachment modalities have functional links with emotional regulation at its different levels: FER accuracy was inversely correlated with avoidant attachment, while affective empathy, difficulty in identifying feelings (alexithymia) and immature as well as neurotic defence mechanisms were positively correlated with anxious attachment. Moreover, attachment categories delineated distinct emotional perception profiles. In particular, preoccupied attachment included adolescents with the highest levels of facial emotion perception (sensitivity and accuracy) and of affective empathy, whereas detached attachment included adolescents with the lowest levels of these variables. Neurotic defence mechanisms and difficulty to identify feelings were correlated with preoccupied attachment; immature defence mechanisms and difficulty to describe feelings to others characterized fearful attachment.DiscussionThese results suggest that attachment categories underlie emotion regulation processes in psychiatric disorders in adolescence. Theoretical and clinical implications are discussed.
Bridging science and spirituality: the intersection of religion and public health in the COVID-19 pandemic
Authors: Ayub Shahana , Anugwom Gibson O. , Basiru Tajudeen , Sachdeva Vishi , Muhammad Nazar , Bachu Anil , Trudeau Maxwell , Gulati Gazal , Sullivan Amanda , Ahmed Saeed , Jain Lakshit 
Published: May 2023

BackgroundThe COVID-19 pandemic has had global impacts on social interactions and religious activities, leading to a complex relationship between religion and public health policies. This article reviews impact of the COVID-19 pandemic on religious activities and beliefs in relation to the spread of the virus, as well as the potential of religious leaders and faith communities in mitigating the impact of the pandemic through public health measures and community engagement.MethodsA literature review was conducted using PubMed and Google Scholar, with search terms including “religion,” “COVID-19,” “pandemic,” “coronavirus,” and “spirituality.” We included English articles published between January 2020 and September 2022, focusing on intersection of religion and COVID-19.ResultsWe identified two main themes emerging, with the selected 32 studies divided in 15 studies focused on the relationship between religious practices, beliefs, and the spread of COVID-19, while 17 studies explored the role of religious leaders and faith communities in coping with and mitigating the impact of COVID-19. Religious activities were found to correlate with virus spread, particularly in early days of the pandemic. The relationship between religiosity and adherence to government guidelines was mixed, with some studies suggesting increased religiosity contributed to misconceptions about the virus and resistance to restrictions. Religious beliefs were also associated with vaccine hesitancy, particularly conservative religious beliefs. On the other hand, religious leaders and communities played a crucial role in adapting to COVID-19 measures, maintaining a sense of belonging, fostering emotional resilience, and upholding compliance with public health measures. The importance of collaboration between religious leaders, institutions, and public health officials in addressing the pandemic was emphasized.ConclusionsThis review highlights the essential role of religious leaders, faith-based organizations, and faith communities in promoting education, preparedness, and response efforts during the COVID-19 pandemic. Engaging with religious leaders and communities can improve pandemic control and prevention efforts. Collaboration between religious leaders, governments, and healthcare professionals is necessary to combat vaccine hesitancy and ensure successful COVID-19 vaccination campaigns. The insights from this review can guide future research, policy development, and public health interventions to minimize the impact of the pandemic and improve outcomes for individuals and communities affected.
Social effects of HIV disclosure, an ongoing challenge in young adults living with perinatal HIV: a qualitative study
Authors: Aurpibul Linda , Tangmunkongvorakul Arunrat , Detsakunathiwatchara Chanidapa , Masurin Supunnee , Srita Angkana , Meeart Patcharaporn , Chueakong Walailak 
Published: May 2023

IntroductionYoung adults with perinatal HIV (YAPHIV) have survived the long journey of life while living with HIV since early childhood. We explore the HIV disclosure experience and its social effects from their perspectives.MethodsThe qualitative study was conducted from June to November 2022 in Chiang Mai, Thailand. Data were collected through individual in-depth semi-structured interviews with 20 YAPHIV at the median age of 25 years. Content analysis was used to identify themes from the interview transcripts.ResultsMost participants learned their HIV status from their parents, caregivers, healthcare providers, or other people in community during their childhood. Some were disclosed later in adolescent years. HIV disclosure to others was associated with various experiences in different stages of life. While some YAPHIV decided not to disclose their HIV status to anyone, it also had social effects. Three major themes were identified: (1) positive social effects of HIV disclosure (perceived social acceptance, perceived social support); (2) negative social effects of HIV disclosure (effects on child rearing, schooling, and family relationship); and (3) HIV non-disclosure (anticipated stigma, negative effects on the quality of employment, and relationships). An emerging theme was a need for peer support mentioned by several YAPHIV as they would like to discuss with somebody and share their feelings while living with HIV.ConclusionHIV disclosure remains challenging for YAPHIV while growing up and moving toward adult milestones. Better understanding their situations and perspectives would allow healthcare providers to provide them with updated HIV knowledge, coping skills, and psychosocial support.
Who are the haters? A corpus-based demographic analysis of authors of hate speech
Authors: Hilte Lisa , Markov Ilia , Ljubešić Nikola , Fišer Darja , Daelemans Walter 
Published: May 2023

IntroductionWe examine the profiles of hate speech authors in a multilingual dataset of Facebook reactions to news posts discussing topics related to migrants and the LGBT+ community. The included languages are English, Dutch, Slovenian, and Croatian.MethodsFirst, all utterances were manually annotated as hateful or acceptable speech. Next, we used binary logistic regression to inspect how the production of hateful comments is impacted by authors' profiles (i.e., their age, gender, and language).ResultsOur results corroborate previous findings: in all four languages, men produce more hateful comments than women, and people produce more hate speech as they grow older. But our findings also add important nuance to previously attested tendencies: specific age and gender dynamics vary slightly in different languages or cultures, suggesting that distinct (e.g., socio-political) realities are at play.DiscussionFinally, we discuss why author demographics are important in the study of hate speech: the profiles of prototypical “haters” can be used for hate speech detection, for sensibilization on and for counter-initiatives to the spread of (online) hatred.
Case report: training neck and head control in children with chronic paralysis due to acute flaccid myelitis
Authors: Noonan-Eaton Kathryn , Stout Danielle , Goode-Roberts MacKenzie , Leon Machado Laura , Davis Matthew , Behrman Andrea L. 
Published: May 2023

BackgroundAcute flaccid myelitis (AFM) occurs rarely in children and adolescents when damage to spinal motor neurons rapidly causes flaccid paralysis of limb, trunk, and neck muscles and potentially respiratory failure. When neck muscles are weakened or paralyzed, a child loses head control, severely compromising engagement with their environment. Compensation for lack of head control is achieved with external support devices attached to a wheelchair, but there is no indication in the AFM literature of therapeutic efforts to restore head control. In this case series, we explore the possibility of the recovery of head control when children with AFM received activity-based restorative therapies (ABRTs) guided by principles targeting motor control.Case descriptionThree children, two male and one female, aged 6, 9, and 7, with a history of AFM-onset at 5, 7, and 4 years respectively, enrolled in an activity-based restorative therapies outpatient program targeting activation of the neuromuscular system below the lesion. Each of them lacked head control, was either ventilator-dependent or had a tracheostomy, and was a power wheelchair user via hand/foot control.MethodsActivity-based restorative therapies were provided 5 days/week: 1.5 h of activity-based locomotor training and 1.5 h of activity-based neuromuscular electrical stimulation.ResultsAn approach to addressing head/neck control developed iteratively across disciplines, from complete compensation with passive external head support to emerging head control during diverse tasks, e.g., sitting, reaching, driving a power chair, sit-to-stand, standing, stepping on a treadmill, and walking. Key principles identified and employed were (a) passive facilitation, (b) external head support, (c) posterior head support, (d) graded manual facilitation, and (e) independent head control.DiscussionThe recovery of head control in children with paralysis due to AFM may be accelerated when executing a step-wise progression to effectively target and challenge head control in parallel with activity-based restorative therapies. In treating three children with a chronic lack of head control, a therapeutic strategy was iteratively developed guided by scientific principles, e.g., segmental assessment of control, to promote recovery of head control. While this strategy is encouraging, gaps in sensitive and responsive measurement instruments and treatment technologies persist in guiding assistance, challenging, and promoting independent head control.
Participation in everyday life for young people with chronic pain in Saudi Arabia: “you feel lacking in life and you feel that time is flying by”
Authors: Alsaggaf Fatimah , Coyne Imelda 
Published: May 2023

IntroductionChronic pain is a common health problem that can have a significant impact on children and young people's daily life. Although research on pediatric chronic pain has been a priority globally, little is known about young people's experience of chronic pain in Saudi Arabia. Thus, this article reports on young people's experience of chronic pain and the impact on their lives in Saudi Arabia which forms part of a larger study.MethodsMultiple case study design following Yin's (2018) approach was used. Purposeful and theoretical sampling were used to recruit young people aged 12 to 18 who had experienced chronic pain for at least three months, their parents, and their school personnel. The young people and their parents were recruited from a tertiary hospital located on the western side of Saudi Arabia while school personnel were recruited from the schools that young people attended. Data were collected through in-depth semi-structured face-to-face (n = 15) and telephone interviews (n = 25) from 40 participants (10 young people, 10 parents, and 20 school personnel). Interviews were recorded, transcribed verbatim, and translated from Arabic to English. Data were analyzed following two phases: (1) constant comparative analysis; and (2) cross-case analysis based on the work of Charmaz (2014) and Yin (2018) respectively.FindingsYoung people's experiences of chronic pain were categorized into three themes: (1) experiencing chronic pain; (2) impact of pain on quality of life; and (3) everyday strategies to manage chronic pain. All young people reported that their pain was caused by a chronic condition, where the most prevalent pains were musculoskeletal/joint pain, abdominal pain, and headache/migraine. Most young people had encountered challenges with misdiagnosis or delayed diagnosis as to the cause of their chronic pain. They described how their chronic pain interfered with their physical, psychological, and social functioning. They primarily managed their pain with medications and through self-care techniques. The findings also indicated that young people's generally positive attitude to their pain reflected their beliefs in Allah's power and the belief that such suffering should be borne according to their Islamic culture.ConclusionChronic pain is a significant health phenomenon that tends to restrict the participation of young people in everyday life. However young people used a range of strategies to normalize the pain so that they could continue with their everyday activities like their peers.