bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Broad Autism Phenotype–International Test (BAP-IT): A two-domain-based test for the assessment of the broad autism phenotype
Authors: Godoy-Giménez Marta , García-Pérez Ángel , Cañadas Fernando , Estévez Angeles F , Sayans-Jiménez Pablo 
Published: February 2024

The broad autism phenotype is the phenotypic expression of the primary characteristics of autism. However, currently available tests do not agree with the two-domain operationalization of broad autism phenotype or autism, and their internal structure has shown instability across applications. This study presents the Broad Autism Phenotype–International Test, the first such test designed to target a two-domain operationalization in Spain and the United Kingdom. A broad pilot study was conducted in three community samples, two from Spain (ES1, N = 970; ES2, N = 460) and one from the United Kingdom ( N = 530). The Broad Autism Phenotype–International Test consists of 20 items distributed into the SOCIAL-BAP and RIRE-BAP dimensions, representing the seven autistic subdomains. Common factor approaches were used to find a simple and invariant factor structure between countries. The Broad Autism Phenotype–International Test presents full metric invariance between two Spanish samples, partial invariance between countries, and adequate omega reliability estimation. Evidence-based results on the relationships of the SOCIAL-BAP and RIRE-BAP to other variables (the Social Responsiveness Scale-2 and the Broad Autism Phenotype Questionnaire) support the interpretation of its scores for the intended uses. The evidence provided in this article shows that the Broad Autism Phenotype–International Test functions adequately compared to other available broad autism phenotype tests, such as the Broad Autism Phenotype Questionnaire. Lay abstract The broad autism phenotype refers to a group of behaviors related to autism spectrum disorder, but that appear to a lesser extent. Its assessment has been performed through outdated broad autism phenotype/autism spectrum disorder definitions and tests. To address this problem, this study presents the development of a new test, the Broad Autism Phenotype–International Test, a 20-item measure consisting of two dimensions, SOCIAL-BAP and RIRE-BAP, targeting the two-domain operationalization of autism spectrum disorder in Spain and the United Kingdom. Unlike the Broad Autism Phenotype Questionnaire, this test received empirical support as a quick and effective broad autism phenotype measure that can facilitate both broad autism phenotype/autism spectrum disorder research and interventions. This is the first step to studying the BAP in several Spanish and English-speaking countries.
Brachial plexus birth injury: advances and controversies
Authors: Leblebicioğlu Gürsel , Pondaag Willem 
Published: February 2024

While there is considerable spontaneous recovery in most cases of brachial plexus birth injury, many children are left with significant problems that may lead to lifelong functional limitations, loss of work and social isolation. Detailed treatment with the right strategy can provide very valuable improvement in function. Over the past few years, the clinical approach to brachial plexus birth palsy has entered a new era in both diagnostic and surgical treatment methods. This article reviews four areas of management, the role of imaging in defining the severity of the injury, the optimal timing of for nerve exploration and reconstruction in appropriate cases, the advantages and potential complications of nerve transfers, and the role of physiotherapy. Available evidence is considered. Although it is difficult to make clear and precise inferences on a subject where there are many variables and considerable uncertainties, some currently accepted views will be summarized. Level of evidence: V
Periprosthetic radiolucency in total wrist arthroplasty: a radiographic study
Authors: Holzbauer Matthias , Raher Wolfgang , Kobler Erich , Froschauer Stefan M. 
Published: February 2024

This retrospective study investigates the incidences of periprosthetic radiolucency and the position of the prosthesis in patients who underwent total wrist arthroplasty. A total of 50 patients with a mean age of 58 years (SD 11) were included. The available dorsopalmar and lateral radiographs were categorized into the following groups: immediately postoperative and 1, 2, 3, 5 and beyond 6 years postoperatively. The findings of this study indicate that periprosthetic radiolucency is a progressive phenomenon that originates at the bone adjacent to the joint line, possibly due to stress shielding. The size of the periprosthetic radiolucency showed no correlation with any clinical parameter, nor can its size be predicted by intraoperative implant positioning. However, a significant correlation was observed between a reduced implant-middle finger carpometacarpal distance and higher postoperative pain levels as well as patient dissatisfaction. Revision surgery after total wrist arthroplasty should not be solely guided by radiological signs of periprosthetic radiolucency. Instead, this study suggests that consideration for revision surgery should be reserved for symptomatic patients experiencing persistent pain and swelling accompanied by radiographic evidence of carpal implant subsidence. Level of evidence: IV
Incision techniques for trigger thumb release: a comparison of outcomes of four types of skin incision
Authors: Koopman Jaimy E. , Smit Jeroen M. , Wouters Robbert M. , Selles Ruud W. , Michiel Zuidam J. ,   Hand-Wrist Study Group, Hundepool Caroline A. 
Published: February 2024

Although trigger thumb release is commonly performed, there is no consensus on the optimal skin incision. This study aimed to compare outcomes of four incision techniques, including V-shaped, oblique, transverse and longitudinal incisions. Outcomes included the Michigan Hand Outcomes Questionnaire, satisfaction with the treatment and postoperative complications. The results of 875 patients who underwent trigger thumb release were assessed. All groups demonstrated improvement in self-reported hand function (range of 10–14 points), pain (25–27 points) and aesthetics (4–7 points) from baseline to 3 months postoperatively with no differences between incision techniques. Of the patients, 76% reported good or excellent satisfaction with the outcome of treatment. Satisfaction and complication rates of the different incision techniques were similar. These findings imply that there is no clear benefit of one type of incision over another for trigger thumb release, suggesting that surgeons may use the technique of their preference. Level of evidence: III
Opioids and Youth Athletes
Authors: Benjamin Holly J. , Perri Molly M. , Leemputte Jacqueline , Lewallen Laura , DeVries Clarabelle 
Published: February 2024

Context: The ongoing opioid epidemic and associated adverse effects impart a large burden on our current healthcare system. The annual economic and noneconomic cost of opioid use disorder and fatal opioid overdose is currently estimated at $1 trillion. Objective: This review presents the prevalence, frequency of use, need, and effectiveness of opioid analgesia in the youth and adolescent athlete population. It identifies current indications for opioid versus nonopioid analgesic use in the setting of acute orthopaedic injuries, postoperative management, concussion, and chronic pain. Current knowledge of youth athlete opioid use, risks related to use, misuse, diversion, and addiction are reviewed. Data Sources: A PubMed, Medline, and Cochrane Library search was conducted in February 2023 to review opioid pain management strategies in the pediatric athlete population from 2000 to present. Study Selection: Searches were restricted to English language articles and human subjects. Initial reviews of titles and abstracts were performed by all authors and relevant full-text articles were selected. Priority was given to systematic and narrative reviews, meta-analyses, and prospective studies. Study Design: Narrative review. Level of Evidence: Level 3. Data Extraction: First author name, publication year, study design, study country, subject demographics, and data on the frequency, type, and duration of analgesic treatments for musculoskeletal injuries, postsurgical care, chronic pain disorders, and concussion were extracted. Results: Pediatric athletes comprise a high-risk population seeking analgesic relief for injury-related pain. Participation in high school sports is associated with increased risk of opioid use. An average of 28% to 46% of high school athletes have used opioids in their lifetime. Participation in ≥1 high school sport puts adolescents at 30% greater odds of future opioid misuse. Conclusion: The use of opioids in the pediatric athlete population is common and associated with both short- and long-term risks of misuse and addiction.
Prognostic Factors for Clinical Outcome and Cartilage Regeneration after Implantation of Allogeneic Human Umbilical Cord Blood-Derived Mesenchymal Stem Cells in Large-Sized Cartilage Defects with Osteoarthritis
Authors: Jung Se-Han , Jung Min , Chung Kwangho , Kim Sungjun , Park Jisoo , Hong Junseok , Choi Chong-Hyuk , Kim Sung-Hwan 
Published: February 2024

Objective To analyze the prognostic factors for clinical outcomes and cartilage regeneration after the implantation of allogeneic human umbilical cord blood mesenchymal stem cell (hUCB-MSC) for treating large-sized cartilage defects with osteoarthritis. Design This study is a case-series with multiple subgroup analyses that divides the included patients into multiple subgroups based on various factors. Overall, 47 patients who underwent hUCB-MSC implantation were included. The patient-reported outcomes, magnetic resonance imaging (MRI), and second-look arthroscopy were used to assess the outcomes. Results Combined realignment surgery significantly correlated with clinical outcomes, particularly pain. No other factors significantly influenced the clinical outcomes in short-term period. Subgroups with large defect sizes or meniscal insufficiency showed significantly poor MRI and arthroscopy outcomes (MRI, P = 0.001, P = 0.001; arthroscopy, P = 0.032, P = 0.042). The logistic regression showed that patients with a 1 cm2 larger defect size were 1.91 times less likely to achieve favorable MRI outcomes ( P = 0.017; odds ratio [OR], 1.91). Cut-off value to predict the poor outcome was >5.7 cm2 (area under the curve, 0.756). A cartilage defect size >5.7 cm2 was the major poor prognostic factor for cartilage regeneration on MRI ( P = 0.010; OR, 17.46). If the postoperative alignment shifted by 1° opposite to the cartilage defect, it was 1.4 times more likely to achieve favorable MRI outcomes ( P = 0.028; OR, 1.4). Conclusion Combining realignment surgery showed a better prognosis for pain improvement. Cartilage defect size, meniscal function, and postoperative alignment are significant prognostic factors for cartilage regeneration. A cartilage defect size >5.7 cm2 was significantly related to poor cartilage regeneration.
Association of Risk Factors and Comorbidities With Chronic Pain in the Elderly Population
Authors: Mookerjee Neil , Schmalbach Nicole , Antinori Gianna , Thampi Subhadra , Windle-Puente Dylan , Gilligan Amy , Huy Ha , Andrews Megha , Sun Angela , Gandhi Roshni , Benedict William , Chang Austin , Sanders Ben , Nguyen Justin , Keesara Maanika Reddy , Aliev Janet , Patel Aneri , Hughes Isaiah , Millstein Ian , Hunter Krystal , Roy Satyajeet 
Published: February 2024

Introduction/Objective: Chronic pain disorders affect about 20% of adults in the United States, and it disproportionately affects individuals living in the neighborhoods of extreme socioeconomic disadvantage. In many instances, chronic pain has been noted to arise from an aggregation of multiple risk factors and events. Therefore, it is of importance to recognize the modifiable risk factors. The aim of this study was to investigate the comorbid medical conditions and risk factors associated with chronic pain disorders in patients aged 65 years and older. Methods: Our team retrospectively reviewed medical records of elderly patients (65 years and older) who were evaluated in our outpatient medicine office between July 1, 2020 and June 30, 2021 for acute problems, management of chronic medical problems, or well visits. We divided our patients into a group who suffered from chronic pain disorder, and another group who did not have chronic pain disorder. The association of variables were compared between those groups. Results: Of the 2431 patients, 493 (20.3%) had a chronic pain disorder. A higher frequency of females in the group with chronic pain disorder was found compared to the group without a chronic pain disorder (60.6% vs 55.2%; P = .033). The mean ages between the two groups were similar in the group with a chronic pain disorder compared to the group without (76.35 ± 7.5 year vs 76.81 ± 7.59 year; P = .228). There were significant associations of certain comorbidities in the group with a chronic pain disorder compared to the group without a chronic pain disorder, such as depression (21.9% vs 15.2%; P < .001), anxiety (27.0% vs 17.1%; P < .001), chronic obstructive pulmonary disease (8.7% vs 6.1%; P = .036), obstructive sleep apnea (16.8% vs 11.6%; P = .002), gastroesophageal reflux disease (40.8% vs 29.0%; P < .001), osteoarthritis (49.3% vs 26.1%; P < .001), other rheumatologic diseases (24.9% vs 19.4%; P = .006), and peripheral neuropathy (14.4% vs 5.3%; P < .001). Conclusion: Female sex, depression, anxiety, chronic obstructive pulmonary disease, obstructive sleep apnea, gastroesophageal reflux disease, osteoarthritis, other rheumatologic diseases, and peripheral neuropathy were significantly associated with chronic pain disorder in elderly patients, while BMI was not associated with chronic pain disorder.
Sodium intake and public health -- methodological pitfalls in assessing the relationship between sodium intake and health outcomes
Authors: Gao Jian 
Published: February 2024

Background and aims The findings on the relationship between sodium intake and health outcomes such as cardiovascular disease and all-cause mortality have been controversial. Some studies found the relationship between sodium intake and all-cause mortality was linear while others found a U-shaped or J-shaped relationship. This study aimed to identify the methodological issues contributing to the conflicting findings. Methods and results The present study investigated methodological gaps in assessing the relationship between sodium intake and health outcomes (hypertension, cardiovascular disease, and all-cause mortality). The contradictory findings appear to stem from flawed methods used in the published studies: (1) Both spot and 24-h urinary sodium collection methods underestimate the adverse effects of low sodium intake and overestimate the harmful effects of high sodium intake, (2) the linear relationship between sodium intake and all-cause mortality appears to be a result of random chance due to small sample sizes, and (3) the divergent temporal trends of sodium consumption and hypertension prevalence indicate sodium intake was not the primary cause of the worldwide hypertension epidemic. Conclusion Considering, (1) sodium is an essential nutrient, (2) the adverse effects of low and high sodium intake appear to be under- and over-estimated, respectively, (3) large studies have found a U-shaped or J-shaped relationship between sodium intake and all-cause mortality, and (4) sodium consumption is unlikely to be the major driver behind the worldwide hypertension epidemic and has little effect on the blood pressure of most normotensive individuals, the recommendation for population-wide low sodium intake merits further evaluation.
High-content image screening to identify chemical modulators for peroxisome and ferroptosis
Authors: Zheng Daheng , Li Fei , Wang Shanshan , Liu Pu-Ste , Xie Xin 
Published: February 2024

Abstract
Background
The peroxisome is a dynamic organelle with variety in number, size, shape, and activity in different cell types and physiological states. Recent studies have implicated peroxisomal homeostasis in ferroptosis susceptibility. Here, we developed a U-2OS cell line with a fluorescent peroxisomal tag and screened a target-selective chemical library through high-content imaging analysis.

Methods
U-2OS cells stably expressing the mOrange2-Peroxisomes2 tag were generated to screen a target-selective inhibitor library. The nuclear DNA was counterstained with Hoechst 33342 for cell cycle analysis. Cellular images were recorded and quantitatively analyzed through a high-content imaging platform. The effect of selected compounds on ferroptosis induction was analyzed in combination with ferroptosis inducers (RSL3 and erastin). Flow cytometry analysis was conducted to assess the level of reactive oxygen species (ROS) and cell death events.

Results
Through the quantification of DNA content and peroxisomal signals in single cells, we demonstrated that peroxisomal abundance was closely linked with cell cycle progression and that peroxisomal biogenesis mainly occurred in the G1/S phase. We further identified compounds that positively and negatively regulated peroxisomal abundance without significantly affecting the cell cycle distribution. Some compounds promoted peroxisomal signals by inducing oxidative stress, while others regulated peroxisomal abundance independent of redox status. Importantly, compounds with peroxisome-enhancing activity potentiated ferroptosis induction.

Conclusions
Our findings pinpoint novel cellular targets that might be involved in peroxisome homeostasis and indicate that compounds promoting peroxisomal abundance could be jointly applied with ferroptosis inducers to potentiate anticancer effect.

Graphical Abstract
Decoding the complexity of on-target integration: characterizing DNA insertions at the CRISPR-Cas9 targeted locus using nanopore sequencing
Authors: Zhao Juan-Juan , Sun Xin-Yu , Tian Sai-Ning , Zhao Zong-Ze , Yin Meng-Di , Zhao Mei , Zhang Feng , Li Si-Ang , Yang Zhi-Xue , Wen Wei , Cheng Tao , Gong An , Zhang Jian-Ping , Zhang Xiao-Bing 
Published: February 2024

Abstract
Background
CRISPR-Cas9 technology has advanced in vivo gene therapy for disorders like hemophilia A, notably through the successful targeted incorporation of the F8 gene into the Alb locus in hepatocytes, effectively curing this disorder in mice. However, thoroughly evaluating the safety and specificity of this therapy is essential. Our study introduces a novel methodology to analyze complex insertion sequences at the on-target edited locus, utilizing barcoded long-range PCR, CRISPR RNP-mediated deletion of unedited alleles, magnetic bead-based long amplicon enrichment, and nanopore sequencing.

Results
We identified the expected F8 insertions and various fragment combinations resulting from the in vivo linearization of the double-cut plasmid donor. Notably, our research is the first to document insertions exceeding ten kbp. We also found that a small proportion of these insertions were derived from sources other than donor plasmids, including Cas9-sgRNA plasmids, genomic DNA fragments, and LINE-1 elements.

Conclusions
Our study presents a robust method for analyzing the complexity of on-target editing, particularly for in vivo long insertions, where donor template integration can be challenging. This work offers a new tool for quality control in gene editing outcomes and underscores the importance of detailed characterization of edited genomic sequences. Our findings have significant implications for enhancing the safety and effectiveness of CRISPR-Cas9 gene therapy in treating various disorders, including hemophilia A.
Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses
Authors: Kvapilova Katerina , Misenko Pavol , Radvanszky Jan , Brzon Ondrej , Budis Jaroslav , Gazdarica Juraj , Pos Ondrej , Korabecna Marie , Kasny Martin , Szemes Tomas , Kvapil Petr , Paces Jan , Kozmik Zbynek 
Published: February 2024

Abstract
Background
Whole exome sequencing (WES) and whole genome sequencing (WGS) have become standard methods in human clinical diagnostics as well as in population genomics (POPGEN). Blood-derived genomic DNA (gDNA) is routinely used in the clinical environment. Conversely, many POPGEN studies and commercial tests benefit from easy saliva sampling. Here, we evaluated the quality of variant call sets and the level of genotype concordance of single nucleotide variants (SNVs) and small insertions and deletions (indels) for WES and WGS using paired blood- and saliva-derived gDNA isolates employing genomic reference-based validated protocols.

Methods
The genomic reference standard Coriell NA12878 was repeatedly analyzed using optimized WES and WGS protocols, and data calls were compared with the truth dataset published by the Genome in a Bottle Consortium. gDNA was extracted from the paired blood and saliva samples of 10 participants and processed using the same protocols. A comparison of paired blood–saliva call sets was performed in the context of WGS and WES genomic reference-based technical validation results.

Results
The quality pattern of called variants obtained from genomic-reference-based technical replicates correlates with data calls of paired blood–saliva-derived samples in all levels of tested examinations despite a higher rate of non-human contamination found in the saliva samples. The F1 score of 10 blood-to-saliva-derived comparisons ranged between 0.8030–0.9998 for SNVs and between 0.8883–0.9991 for small-indels in the case of the WGS protocol, and between 0.8643–0.999 for SNVs and between 0.7781–1.000 for small-indels in the case of the WES protocol.

Conclusion
Saliva may be considered an equivalent material to blood for genetic analysis for both WGS and WES under strict protocol conditions. The accuracy of sequencing metrics and variant-detection accuracy is not affected by choosing saliva as the gDNA source instead of blood but much more significantly by the genomic context, variant types, and the sequencing technology used.