bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identifying Strategies to Improve Shared Decision Making for Pregnant Patients’ Decisions about Prenatal Genetic Screens and Diagnostic Tests
Authors: Collart Christina , Craighead Caitlin , Yao Meng , Chien Edward K. , Rose Susannah , Frankel Richard M. , Coleridge Marissa , Hu Bo , Edmonds Brownsyne Tucker , Ranzini Angela C. , Farrell Ruth M. 
Published: July 2024

Purpose Prenatal genetic screens and diagnostic tests are vital components of prenatal care. The first prenatal visit is a critical time in the decision-making process when patients decide whether to use these tests in addition to address a series of other essential prenatal care aspects. We conducted this study to examine the role of a shared decision-making (SDM) instrument to support these discussions. Methods We conducted a cluster randomized controlled trial of patients allocated to an SDM tool or usual care at their first prenatal visit. Participants completed a baseline survey to measure decision-making needs and preferences. Direct observation was conducted and analyzed using the OPTION scale to measure SDM during prenatal genetic testing discussions. Results Levels of SDM were similar across groups ( P = 0.081). The highest levels of SDM were observed during screening test discussions (NEST 2.4 ± 0.9 v. control 2.6 ± 1.0). Lowest levels were observed in discussions about patients’ preference for risk versus diagnostic information (NEST 1.0 ± 1.1 v. control 1.2 ± 1.3). Conclusion Study findings demonstrate the need for targeted patient-focused and provider-focused efforts to improve SDM to enhance patients’ informed decision making about these options. Importantly, patients’ baseline knowledge and attitudes need to be considered given that patients with less knowledge may need more carefully crafted communication. Highlights Choices about whether, when, and how to use prenatal genetic tests are highly preference-based decisions, with patients’ baseline attitudes about these options as a major driver in health care discussions. The decision-making process is also shaped by patient preferences regarding a shared or informed decision-making process for medical decisions that are highly personal and have significant ramifications for obstetric outcomes. There is a need to develop targeted efforts to improve decision making and enhance patients’ ability to make informed decisions about prenatal genetic tests in early pregnancy.
Outcomes After Anterior Cruciate Ligament Reconstruction With Quadriceps Tendon in Adolescent Athletes at Mean Follow-up of 4 Years
Authors: Dadoo Sahil , Herman Zachary J. , Nazzal Ehab M. , Drain Nicholas P. , Finger Logan , Reddy Rajiv P. , Miller Liane , Lesniak Bryson P. , Musahl Volker , Hughes Jonathan D. 
Published: July 2024

Background: Despite increasing use of quadriceps tendon (QT) autograft in anterior cruciate ligament (ACL) reconstruction (ACLR), limited data exist regarding its outcomes in high-risk adolescent athletes. Purpose: To (1) report the outcomes after QT ACLR in adolescent athletes and (2) identify patient-related and surgery-related factors that may influence failure rates after QT ACLR. Study Design: Case series; Level of evidence, 4. Methods: All patients aged 14 to 17 years who underwent primary anatomic, transphyseal, single-bundle QT ACLR between 2010 and 2021 with a minimum 2-year follow-up were included for analysis. Demographic and surgical data as well as preoperative International Knee Documentation Committee (IKDC) and Marx activity scores were collected retrospectively. All patients were also contacted to assess postoperative patient-reported outcomes (PROs), including IKDC and Marx activity scores, and return-to-sports (RTS) data. Outcomes of interest included rates of revision ACLR and ipsilateral complications, contralateral ACL tears, difference in pre- and postoperative PROs, and rates of RTS. Patient and surgical characteristics were compared between groups who required revision ACLR versus those who did not. Results: A total of 162 patients met inclusion criteria, of which 89 adolescent athletes (mean age 16.2 ± 1.1 years, 64% female) were included for analysis at mean follow-up of 4.0 years. Postoperative IKDC scores were significantly higher than preoperative scores (88.5 vs 37.5; P < .001), whereas Marx activity scores decreased postoperatively (14.3 vs 12.2; P = .011). Successful RTS occurred in 80% of patients at a mean time of 9.7 ± 6.9 months, and 85% of these patients returned to the same or higher level of sports. The most common reasons for failure to RTS included lack of time (n = 7, 70%) and fearing reinjury in the operative knee (n = 5, 50%). The overall revision ACLR rate was 10% (n = 9), and contralateral ACL tears occurred in 14% (n = 12) of patients. The overall ipsilateral knee reoperation rate was 22.5% (n = 20). No statistically significant differences in patient or surgical characteristics were observed between patients who underwent revision ACLR and those who did not. Conclusion: At a minimum 2-year follow-up after QT ACLR, adolescent athletes experienced significantly improved postoperative IKDC scores, high rates of RTS, and low rates of graft failure, despite a relatively high ipsilateral reoperation rate. Surgeons may utilize this information when identifying the optimal graft choice for adolescent athletes who have sustained an ACL injury and wish to return to high level of sporting activities.
VPAC1 and VPAC2 receptors mediate tactile hindpaw hypersensitivity and carotid artery dilatation induced by PACAP38 in a migraine relevant mouse model
Authors: Guo Song , Rasmussen Rikke Holm , Hay-Schmidt Anders , Ashina Messoud , Asuni Ayodeji A. , Jensen Jeppe Møller , Holm Anja , Lauritzen Sabrina Prehn , Dorsam Glenn , Hannibal Jens , Georg Birgitte , Kristensen David Møbjerg , Olesen Jes , Christensen Sarah Louise 
Published: July 2024

Abstract
Background
Pituitary adenylate cyclase-activating peptide (PACAP) is a neuropeptide pivotal in migraine pathophysiology and is considered a promising new migraine drug target. Although intravenous PACAP triggers migraine attacks and a recent phase II trial with a PACAP-inhibiting antibody showed efficacy in migraine prevention, targeting the PACAP receptor PAC1 alone has been unsuccessful. The present study investigated the role of three PACAP receptors (PAC1, VPAC1 and VPAC2) in inducing migraine-relevant hypersensitivity in mice.

Methods
Hindpaw hypersensitivity was induced by repeated PACAP38 injections. Tactile sensitivity responses were quantified using von Frey filaments in three knockout (KO) mouse strains, each lacking one of the PACAP-receptors (Ntotal = 160). Additionally, ex vivo wire myography was used to assess vasoactivity of the carotid artery, and gene expression of PACAP receptors was examined by qPCR.

Results
PACAP38 induced hypersensitivity in WT controls (p < 0.01) that was diminished in VPAC1 and VPAC2 KO mice (p < 0.05). In contrast, PAC1 KO mice showed similar responses to WT controls (p > 0.05). Myograph experiments supported these findings showing diminished vasoactivity in VPAC1 and VPAC2 KO mice. We found no upregulation of the non-modified PACAP receptors in KO mice.

Conclusions
This study assessed all three PACAP receptors in a migraine mouse model and suggests a significant role of VPAC receptors in migraine pathophysiology. The lack of hypersensitivity reduction in PAC1 KO mice suggests the involvement of other PACAP receptors or compensatory mechanisms. The results indicate that targeting only individual PACAP receptors may not be an effective migraine treatment.
Characterization, evolution, and abiotic stress responses of leucine-rich repeat receptor-like protein kinases (LRR-RLK) in Liriodendron chinense
Authors: Mu Zhiying , Xu Mingyue , Manda Teja , Chen Jinhui , Yang Liming , Hwarari Delight 
Published: July 2024

Abstract
Background
Liriodendron chinense is susceptible to extinction due to the increasing severity of abiotic stresses resulting from global climate change, consequently impacting its growth, development, and geographic distribution. However, the L. chinense remains pivotal in both socio-economic and ecological realms. The LRR-RLK (leucine-rich repeat receptor-like protein kinase) genes, constituting a substantial cluster of receptor-like kinases in plants, are crucial for plant growth and stress regulation and are unexplored in the L. chinense.

Result
233 LchiLRR-RLK genes were discovered, unevenly distributed across 17 chromosomes and 24 contigs. Among these, 67 pairs of paralogous genes demonstrated gene linkages, facilitating the expansion of the LchiLRR-RLK gene family through tandem (35.82%) and segmental (64.18%) duplications. The synonymous and nonsynonymous ratios showed that the LchiLRR-RLK genes underwent a purifying or stabilizing selection during evolution. Investigations in the conserved domain and protein structures revealed that the LchiLRR-RLKs are highly conserved, carrying conserved protein kinase and leucine-rich repeat-like domians that promote clustering in different groups implicating gene evolutionary conservation. A deeper analysis of LchiLRR-RLK full protein sequences phylogeny showed 13 groups with a common ancestor protein. Interspecies gene collinearity showed more orthologous gene pairs between L. chinense and P. trichocarpa, suggesting various similar biological functions between the two plant species. Analysis of the functional roles of the LchiLRR-RLK genes using the qPCR demonstrated that they are involved in cold, heat, and salt stress regulation, especially, members of subgroups VIII, III, and Xa.

Conclusion
Conclusively, the LRR-RLK genes are conserved in L. chinense and function to regulate the temperature and salt stresses, and this research provides new insights into understanding LchiLRR-RLK genes and their regulatory effects in abiotic stresses.
Anesthetic key points in a patient with a terminal ileum neuroendocrine tumor and a rare carcinoid left heart disease presented for non-cardiac surgery: case report
Authors: Van Ussel Kevin , Leonard Daniel , Watremez Christine , Robu Cristina Bianca 
Published: July 2024

Abstract
Background
Carcinoid tumors are rare neuroendocrine malignancies presenting in an increasing number in our center. The incidence of carcinoid tumors is approximatively between 2.5 and 5 cases per 100,000 people of whom about 50% develop carcinoid syndrome. Once the carcinoid syndrome has developed, a carcinoid cardiomyopathy can occur. Carcinoid heart disease (CaHD) remains a serious and rare complication associated with a significant increase in morbidity and mortality. Although carcinoid tumors have been known and studied for several years, there are still scarce data on the anesthetic management and the peri operative period.

Case presentation
We describe a case of a Caucasian 44-year-old woman with an unusual presentation of left CaHD with an ileal neuroendocrine tumor and liver metastases. Our preoperative somatostatin administration protocol, limit the cardiac damage. The maintenance of stable hemodynamics, the use of balanced anesthetic technique, all along with a good understanding of the pathology, played a major role in the successful management of anesthesia. This case report allows us to introduce our decision algorithm for the management of this type of pathology in our tertiary hospital, Cliniques Universitaires Saint-Luc.

Conclusion
Despite the paucity of data, anesthetic management of patients with carcinoid tumor can be safely performed with effective hemodynamic monitoring and a good understanding of the pathophysiology. Knowledge and application of a clear institutional algorithm for octreotide administration and multidisciplinary consultation at a referral center are essential for the management of these patients.
Metabolites mediate the causal associations between gut microbiota and NAFLD: a Mendelian randomization study
Authors: Ouyang Chen , Liu Pengpeng , Liu Yiwei , Lan Jianwei , Liu Quanyan 
Published: July 2024

Abstract
Background
Although gut microbiota and serum metabolite composition have been observed to be altered in patients with non-alcoholic fatty liver disease (NAFLD), previous observational studies have demonstrated inconsistent results. As this may be influenced by factors such as confounders and reverse causality, we used Mendelian randomization to clarify the causal effect of gut microbiota and blood metabolites on NAFLD.

Methods
In this research, we performed a two-step Mendelian randomization analysis by utilizing genome-wide association study (GWAS) data obtained from MiBioGen and UK Biobank. To mitigate potential errors, we employed False Discovery Rate (FDR) correction and linkage unbalanced regression (LDSC) analysis. Sensitivity analyses including cML-MA and bidirectional Mendelian randomization were performed to ensure the robustness of the results.

Results
In this study, a total of nine gut microbiota and seven metabolites were found to be significantly associated with NAFLD. MR analysis of the above findings revealed a causal relationship between Ruminococcus2 and cysteine-glutathione disulfide (OR = 1.17, 95%CI = 1.006–1.369, P = 0.041), as well as 3-indoleglyoxylic acid (OR = 1.18, 95%CI = 1.011–1.370, P = 0.036). For each incremental standard deviation in Ruminococcus2 abundance, there was a corresponding 26% reduction in NAFLD risk (OR = 0.74, 95%CI = 0.61–0.89, P = 0.0012), accompanied by a 17% increase in cysteine-glutathione disulfide levels (OR = 1.17, 95%CI = 1.01–1.37, P = 0.041) and an 18% increase in 3-indoleglyoxylic acid levels (OR = 1.18, 95%CI = 0.81-1.00, P = 0.036). The proportion mediated by cysteine-glutathione disulfide is 11.2%, while the proportion mediated by 3-indoleglyoxylic acid is 7.5%.

Conclusion
Our study suggests that increased abundance of specific gut microbiota may reduce the risk of developing NAFLD, and this relationship could potentially be mediated through blood metabolites.
Effects of neurofeedback training on the alpha activity in quantitative electroencephalography, cognitive function, and speech perception in elderly with presbycusis: a quasi-experimental study
Authors: Kim Hyoung Jae , Weon Hee Wook , Son Hae Kyoung 
Published: July 2024

Abstract
Background
This study aimed to investigate the effects of neurofeedback training (NFT) on alpha activity in quantitative electroencephalography (QEEG), cognitive function, and speech perception in elderly with presbycusis.

Methods
This study was conducted from June 15 to November 30, 2020. The experimental group (n = 28) underwent NFT, while the control group (n = 31) was instructed to continue with their routine daily life. The NFT conducted for 40 min, two times a week, for a total of 16 sessions and was performed using Neuroharmony S and BrainHealth 2.7. The alpha activity was measured as alpha waves using QEEG. The cognitive function was measured using the Korean version of Mini-Mental Status Examination, digit span forward and backward (DSF and DSB). The speech perception was measured using the word and sentence recognition score (WRS and SRS) using an audiometer with the Korean Standard Monosyllabic Word Lists for Adults.

Results
The experimental group demonstrated improvement in the alpha wave of the left frontal lobe measured as alpha activity (t=-2.521, p = .018); MMSE-K (t=-3.467, p < .01), and DSF (t=-2.646, p < .05) measured as cognitive function; and WRS (t=-3.255, p = .003), and SRS (t=-2.851, p = .008) measured as speech perception compared to the control group.

Conclusions
This study suggests that NFT could be considered an effective cognitive and auditory rehabilitation method based on brain and cognitive science for improving alpha activity, cognitive function, and speech perception.
Abnormal resting-state functional connectivity in subregions of amygdala in adults and adolescents with major depressive disorder
Authors: Guan Lin , Liu Rui , Wang Changshuo , Fan Qingchen , Zhou Jingjing , Wang Yun , Feng Yuan , Liu Jing , Zhou Yuan , Wang Gang , Chen Xu 
Published: July 2024

Abstract
Background
The different symptoms of major depressive disorder (MDD) in adolescents compared to adults suggested there may be differences in the pathophysiology between adolescents and adults with MDD. However, despite the amygdala being considered critical in the pathophysiology, there was limited knowledge about the commonalities and differences in the resting-state functional connectivity (rsFC) of amygdala subregions in MDD patients of different age groups.

Methods
In the current study, 65 adolescents (46 with MDD and 19 controls) and 91 adults (35 with MDD and 56 controls) were included. A seed-based functional connectivity analysis was performed for each of the amygdala subregions. A 2 × 2 ANOVA was used to analyze the main effect of age, diagnosis, and their interaction on the rsFC of each subregion.

Results
A significant main effect of age was revealed in the rsFC of bilateral centromedial (CM) subregions and right laterobasal (LB) subregion with several brain regions in the limbic system and frontoparietal network. The significant main effect of diagnosis showed MDD patients of different ages showed higher connectivity than controls between the right LB and left middle frontal gyrus (MFG).

Conclusions
The rsFC of specific amygdala subregions with brain regions in the limbic system and frontoparietal network is affected by age, indicating a distinct amygdala connectivity profile in adolescents. The decreased rsFC between the right LB and the left MFG in adolescents and adults with MDD could serve as a diagnostic biomarker and a target of nonpharmacological treatment for MDD.
Accuracy of renovo predictions on variants reclassified over time
Authors: Bonetti Emanuele , Tini Giulia , Mazzarella Luca 
Published: July 2024

Abstract
Background
Interpreting the clinical consequences of genetic variants is the central problem in modern clinical genomics, for both hereditary diseases and oncology. However, clinical validation lags behind the pace of discovery, leading to distressing uncertainty for patients, physicians and researchers. This “interpretation gap” changes over time as evidence accumulates, and variants initially deemed of uncertain (VUS) significance may be subsequently reclassified in pathogenic/benign. We previously developed RENOVO, a random forest-based tool able to predict variant pathogenicity based on publicly available information from GnomAD and dbNFSP, and tested on variants that have changed their classification status over time. Here, we comprehensively evaluated the accuracy of RENOVO predictions on variants that have been reclassified over the last four years.

Methods
we retrieved 16 retrospective instances of the ClinVar database, every 3 months since March 2020 to March 2024, and analyzed time trends of variant classifications. We identified variants that changed their status over time and compared RENOVO predictions generated in 2020 with the actual reclassifications.

Results
VUS have become the most represented class in ClinVar (44.97% vs. 9.75% (likely) pathogenic and 40,33% (likely) benign). The rate of VUS reclassification is linear and slow compared to the rate of VUS reporting, exponential and currently ~ 30x faster, creating a growing divide between what can be sequenced vs. what can be interpreted. Out of 10,196 VUS variants in January 2020 that have undergone a clinically meaningful reclassification to march 2024, RENOVO correctly classified 82.6% in 2020. In addition, RENOVO correctly identified the majority of the few variants that switched clinically meaningful classes (e.g., from benign to pathogenic and vice versa). We highlight variant classes and clinically relevant genes for which RENOVO provides particularly accurate estimates. In particularly, genes characterized by large prevalence of high- or low-impact variants (e.g., POLE, NOTCH1, FANCM etc.). Suboptimal RENOVO predictions mostly concern genes validated through dedicated consortia (e.g., BRCA1/2), in which RENOVO would anyway have a limited impact.

Conclusions
Time trend analysis demonstrates that the current model of variant interpretation cannot keep up with variant discovery. Machine learning-based tools like RENOVO confirm high accuracy that can aid in clinical practice and research.
Including the values of UK ethnic minority communities in policies to improve physical activity and healthy eating
Authors: Gafari Olatundun , Stokes Maria , Agyapong-Badu Sandra , Alwan Nisreen A. , Calder Philip C. , McDonough Suzanne , Tully Mark A. , Barker Mary 
Published: July 2024

AbstractPhysical activity and healthy eating are important for physical and mental health, yet long-standing inequalities constrain the ability of ethnic minorities in the United Kingdom (UK) to adopt these behaviours. Programmes aimed to improve these behaviours have also often not been engaged with by these communities. This study therefore aimed to: (1) identify the values underlying the physical activity and healthy eating behaviours of UK ethnic minorities and (2) explore how structural, socio-economic and environmental factors interact with these values to influence their physical activity and healthy eating behaviours. The study adopted a relativist ontological and subjectivist epistemological philosophical assumption. Qualitative interviews were used to address research objectives. A total of 10 group and five individual interviews were conducted with 41 participants. All participants were from an ethnic minority background (Black, Asian or Mixed according to the UK Office for National Statistics classification), recruited purposively and aged between 18 and 86 years and were living in England and Wales. Data were analysed using inductive thematic analysis. Community engagement was embedded throughout the study. We found that culture and family, community and social life, and health are important values underlying the physical activity and healthy eating behaviours of UK ethnic minority communities. External factors, including racism and access (geographical, social and economic), interact with these values to drive health behaviours. Using an illustrative guide, we conclude the paper with policy and practice recommendations on how public health programmes on physical activity and healthy eating can be aligned with these values to ensure relevance for ethnic minority communities.