bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction
Authors: Zhou Nan , Zhao Qianhao , Li Rui , Cheng Ruofei , Wu Qiuping , Cheng Jianding , Chen Yangxin 
Published: July 2023

BackgroundMitral annular disjunction (MAD) is an under-recognised phenotype associated with severe ventricular arrhythmias. Limited knowledge has been gained on its molecular genesis.MethodsA total of 150 unrelated deceased Chinese were collected for whole-exome sequencing, with analysis focusing on a panel of 118 genes associated with ‘abnormal mitral valve morphology’. Cases were prespecified as ‘longitudinally extensive MAD (LE-MAD)’ or ‘longitudinally less-extensive MAD (LLE-MAD)’ according to the gross disjunctional length with a cut-off of 4.0 mm. The pedigree investigation was conducted on a case carrying an ultra-rare (minor allele frequency <0.1%) deleterious variant inDCHS1.ResultsSeventy-seven ultra-rare deleterious variants were finally identified. Exclusively, 12 ultra-rare deleterious variants distributed in nine genes occurred in LE-MAD, which wereANK1,COL3A1,DCHS1,FBN2,GNPTAB,LZTR1,PLD1,RYR1andVPS13B. Ultra-rare deleterious variants in those nine genes were predominantly distributed in LE-MAD compared with LLE-MAD (28% vs 5%, OR 7.30, 95% CI 2.33 to 23.38; p<0.001), and the only gene related to LE-MAD with borderline significance wasDCHS1. LE-MAD was consistently observed in a sizeable Chinese family, in which LE-MAD independently co-segregated with an ultra-rare deleterious variant inDCHS1, rs145429962.ConclusionThis study initially proposed that isolated LE-MAD might be a particular phenotype of MAD with a complex genetic predisposition. Deleterious variants inDCHS1might be associated with the morphogenesis of LE-MAD.
Lidocaine infusion for malignant visceral pain: case report
Authors: Velilla Echeverri Diana Catalina , Gómez Díaz Mateo , Beltrán Pachón Paloma , Lasso Valenzuela David , Poveda Carreño Sofía , Erazo-Muñoz Marcela 
Published: July 2023

BackgroundVisceral pain accounts for nearly 28% of cancer-related pain, and its effective management poses significant challenges. The diverse pathways of neurotransmission, neurotransmitters, channels, and receptors suggest the need for individualized analgesic therapy. Our objective is to explore a therapeutic alternative for managing malignant visceral pain in advanced cancer.CasesIn this report, we present two patients with malignant bowel obstruction and severe visceral pain, despite receiving opioid treatment, necessitating an alternative approach. Surgical interventions were considered but promptly ruled out. Paracentesis was performed as necessary. Pain management was initiated using a combination of opioids and co-analgesics. However, both patients required opioid dose escalation without achieving adequate pain control or tolerating the associated side effects. Consequently, a lidocaine infusion was administered to alleviate pain.OutcomeFollowing 24-48 hours of lidocaine infusion, both patients achieved satisfactory symptom control, enabling a reduction in opioid doses and improvement in intestinal transit. No side effects were reported during the treatment.DiscussionLidocaine infusions may be beneficial for pain management in patients with malignant bowel obstruction and visceral pain. The extent of pain control achieved in comparison to other therapeutics remains challenging to ascertain. We posit that lidocaine infusions, with their potential impact on visceral hypersensitivity, can enhance pain control and facilitate the recovery of bowel transit. Further studies are warranted to validate these findings.
NR1D1 Stimulates Antitumor Immune Responses in Breast Cancer by Activating cGAS-STING Signaling
Authors: Ka Na-Lee , Park Mi Kyung , Kim Seung-Su , Jeon Yoon , Hwang Sewon , Kim Sun Mi , Lim Ga Young , Lee Ho , Lee Mi-Ock 
Published: July 2023

Abstract

Potentiating antitumor immunity is a promising therapeutic approach for treating a variety of cancers, including breast cancer. One potential strategy to promote antitumor immunity is targeting DNA damage response. Given that the nuclear receptor NR1D1 (also known as REV-ERBα) inhibits DNA repair in breast cancer cells, we explored the role of NR1D1 in antitumor CD8+ T-cell responses. First, deletion of Nr1d1 in MMTV-PyMT transgenic mice resulted in increased tumor growth and lung metastasis. Orthotopic allograft experiments suggested that loss of Nr1d1 in tumor cells rather than in stromal cells played a prominent role in increasing tumor progression. Comprehensive transcriptome analyses revealed that biological processes including type I IFN signaling and T cell–mediated immune responses were associated with NR1D1. Indeed, the expression of type I IFNs and infiltration of CD8+ T cells and natural killer cells in tumors were suppressed in Nr1d1−/−;MMTV-PyMT mice. Mechanistically, NR1D1 promoted DNA damage–induced accumulation of cytosolic DNA fragments and activated cGAS-STING signaling, which increased the production of type I IFNs and downstream chemokines CCL5 and CXCL10. Pharmacologic activation of NR1D1 by its ligand, SR9009, enhanced type I IFN–mediated antitumor immunity accompanied by the suppression of tumor progression and lung metastasis. Taken together, these findings reveal the critical role of NR1D1 in enhancing antitumor CD8+ T-cell responses, suggesting that NR1D1 may be a good therapeutic target for breast cancer.

Significance:
NR1D1 suppresses breast cancer progression and lung metastasis by enhancing antitumor immunity via cGAS-STING pathway activation, which provides potential immunotherapeutic strategies for breast cancer.
TCDetect: A New Method of Detecting the Presence of Tropical Cyclones Using Deep Learning
Authors: Galea Daniel , Kunkel Julian , Lawrence Bryan N. 
Published: July 2023

Abstract
Tropical cyclones are high-impact weather events that have large human and economic effects, so it is important to be able to understand how their location, frequency, and structure might change in a future climate. Here, a lightweight deep learning model is presented that is intended for detecting the presence or absence of tropical cyclones during the execution of numerical simulations for use in an online data reduction method. This will help to avoid saving vast amounts of data for analysis after the simulation is complete. With run-time detection, it might be possible to reduce the need for some of the high-frequency high-resolution output that would otherwise be required. The model was trained on ERA-Interim reanalysis data from 1979 to 2017, and the training was concentrated on delivering the highest possible recall rate (successful detection of cyclones) while rejecting enough data to make a difference in outputs. When tested using data from the two subsequent years, the recall or probability of detection rate was 92%. The precision rate or success ratio obtained was that of 36%. For the desired data reduction application, if the desired target included all tropical cyclone events, even those that did not obtain hurricane-strength status, the effective precision was 85%. The recall rate and the area under curve for the precision–recall (AUC-PR) compare favorably with other methods of cyclone identification while using the smallest number of parameters for both training and inference.
Associations of Serum Apolipoprotein A1 and High Density Lipoprotein Cholesterol With Glucose Level in Patients With Coronary Artery Disease
Authors: Dong Hongli , Lu Nan , Hu Ping , Wang Jie 
Published: July 2023

This study determined the associations of apolipoprotein A1 (ApoA1), high-density lipoprotein cholesterol (HDL-C), and HDL-C/ApoA1 ratio with fasting blood glucose (FBG) and evaluated the mediating effects of high-sensitivity C-reactive protein (hsCRP) and body mass index (BMI). A cross-sectional study with 4805 coronary artery disease (CAD) patients was performed. In multivariable analyses, higher ApoA1, HDL-C, and HDL-C/ApoA1 ratio were associated with significantly lower FBG level (Q [quartile] 4 vs Q1: 5.67 vs 5.87 mmol/L for ApoA1; 5.64 vs 5.98 mmol/L for HDL-C; 5.63 vs 6.01 mmol/L for HDL-C/ApoA1 ratio). Moreover, inverse associations of ApoA1, HDL-C, and HDL-C/ApoA1 ratio with abnormal FBG (AFBG) were found with odd ratios (95% confidence interval) of .83 (.70–.98), .60 (.50–.71), and .53 (.45–.64) in Q4 compared with Q1. Path analyses indicated that “ApoA1 (or HDL-C)-FBG” associations were mediated by hsCRP and “HDL-C-FBG” association was mediated by BMI. Our data suggested that higher ApoA1, HDL-C, and HDL-C/ApoA1 ratio were favorably associated with a lower FBG level in CAD patients and these associations might be mediated by hsCRP or BMI. Collectively, higher concentrations of ApoA1, HDL-C, and HDL-C/ApoA1 ratio might decrease the risk of AFBG.
‘Life became slow down’: A descriptive qualitative study of the experiences of cancer-related fatigue amongst people with advanced lung cancer
Authors: Li Huiyuan , Ng Marques Shek Nam , Jin Xiaohuan , Wong Cho Lee 
Published: July 2023

Background: Cancer-related fatigue is a complex multidimensional concept. However, little is known about the experience of cancer-related fatigue in people with advanced lung cancer. How they emotionally react to and cope with the experience of cancer-related fatigue according to cultural influences has not been extensively explored. Aim: To explore the experience of cancer-related fatigue, its impacts and emotional reactions to and coping strategies for cancer-related fatigue amongst people with advanced lung cancer in China. Design: This was a cross-sectional, descriptive qualitative study with face-to-face semi-structured interviews. Data were analysed using content analysis. Setting/participants: Twenty-one people with advanced lung cancer who experienced cancer-related fatigue were recruited in a hospital setting. Results: Four themes were identified: multifaceted experiences of cancer-related fatigue, impacts of cancer-related fatigue, negative perceptions of cancer-related fatigue and avoiding cancer-related fatigue. The multifaceted experience of cancer-related fatigue had physical, psychological and social impacts along the cancer trajectory. Informants regarded it as a sign of a ‘bad ending’, searched for root causes and had negative attitudes towards role changes. Avoiding coping strategies included not discussing cancer-related fatigue, refusing encouragement and support, hiding feelings, withdrawing from social life and attempting to control cancer-related fatigue. Conclusion: The findings provide insights into the lack of flexibility of people with advanced lung cancer to adapt to the multidimensional experience of cancer-related fatigue. The reactions and coping towards cancer-related fatigue are profoundly influenced by Chinese culture. Developing psychological interventions based on the cultural background are highly recommended to cultivate the ability to cope flexibly with stressful events and live a meaningful cancer life.
Psilocybin’s effects on cognition and creativity: A scoping review
Authors: Bonnieux Justin N , VanderZwaag Baeleigh , Premji Zahra , Garcia-Romeu Albert , Garcia-Barrera Mauricio A 
Published: July 2023

Background: Research on psilocybin has become increasingly popular during the current psychedelic renaissance, which began in the early 1990s. Psilocybin’s effects on mental health are promising and there are ongoing efforts to investigate its clinical implementation and its effects on cognition. Aims: The purpose of this study is to report trends in publications, methods, and findings from research examining the effects of psilocybin on cognition and creativity in adults. Methods: We conducted an Open Science Framework preregistered scoping review, guided by the JBI Manual for Evidence Synthesis, on literature pertaining to psilocybin’s effects on cognition and creativity. Results/outcomes: In the 42 included studies, psilocybin was primarily administered orally (83%) in a bodyweight-adjusted manner (74%) to healthy participants (90%). Of the few studies that explicitly reported safety outcomes (26%), only one reported serious adverse reactions. During the acute phase post-intake (i.e., minutes to hours), macrodoses tended to impair cognitive performance and creativity, whereas microdoses tended toward creative enhancement. The few macrodosing studies that included post-acute measures (i.e., 1–85 days) reported primarily null but some positive effects. Conclusions/interpretation: This scoping review identified a time-based variation of psilocybin macrodosing effects on cognition and creativity, in which impairment may be observed early post-intake but withdraw over time, and some positive effects may emerge afterward. These findings are limited by methodological concerns and inadequate assessment of long-term effects. We therefore recommend that future psilocybin research be conducted according to existing guidelines and include well-validated measures of cognition and creativity at multiple timepoints.
Butacote: A Six-Year Follow-Up of Patients with Gastric Intolerance to other Medications
Authors: Cardoe N , Fowler P D 
Published: July 2023

A double-blind study in thirty patients with rheumatoid arthritis showed no difference in the effectiveness of Butazolidin and Butacote. A two-year open study in 103 patients, most with gastric intolerance to anti-rheumatic drugs, demonstrated that the majority were able to tolerate Butacote, that side-effects were likely to occur early, but that patients with peptic ulceration did not do well. Forty patients who were still taking Butacote at the end of the two-year study are reviewed after a treatment period of more than six years. Seven are still on treatment and eleven were able to stop because the disease went into remission. In nine patients a change of treatment was needed because symptoms were not controlled, but this was only after prolonged periods of treatment with Butacote, all but one for more than three years. Eight patients developed gastro-intestinal upset, but tolerated this for long periods before changing treatment. Only one had gastro-intestinal bleeding, and this was from a hiatus hernia. There were no significant haematological abnormalities. From the total of 103 patients with rhematoid arthritis, mainly selected because of gastro-intestinal intolerance to other drugs, only nineteen had to stop treatment because of gastro-intestinal upset. Thirty-three changed treatment because of unsatisfactory therapeutic effect, but, over a long period of treatment, sixteen patients were able to continue treatment until the disease went into remission, and a further seven patients are still on treatment, with satisfactory tolerance and symptom control, the longest having been on treatment for more than eight years. In view of the particular problems of long-term treatment of rheumatoid arthritis, particularly in patients with known gastric intolerance, this is considered to be a significant and highly satisfactory response.
A Struggle for Hegemonic Feminisation in Six Feminist Foreign Policies Or, How Social Hierarchies Work in World Politics
Authors: Zhukova Ekatherina 
Published: July 2023

This article looks at how six states that adopted feminist foreign policies (FFPs) – Sweden, Canada, France, Luxembourg, Mexico and Spain – relate to each other, using an analysis of semi-structured interviews conducted with diplomats and public officials from the six states. It connects the literature on social hierarchies in world politics with scholarship on identities in foreign policy and on masculinities in global politics, concluding that FFPs do not create solidarity but instead lead adopting states to engage in competition with each other. The article develops a concept of hegemonic feminisation to argue that competition between FFP states becomes possible because these states symbolically rank and evaluate each other based on their perceived performance on gender equality. More specifically, it is demonstrated that ranking and evaluation takes place through references to each state’s progress on gender equality before and after the adoption of FFP and to geographies of progress at home and abroad. The article argues that while this stratification of states leads to the emergence of multiple versions of hegemonic feminisation, these versions reproduce the civilisational distinctions between the Global North and the Global South. It concludes with the implications of hegemonic feminisation for the possibility of states becoming feminist. Une lutte pour la féminisation hégémonique dans six politiques étrangères féministes: Ou comment les hiérarchies sociales fonctionnent dans la politique mondiale
Outcomes Following Combined Posterior Labral and SLAP Repair in Military Patients Younger Than 35 Years
Authors: Green Clare K. , Scanaliato John P. , Sandler Alexis B. , Czajkowski Hunter , Childs Benjamin R. , Fink Walter A. , Dunn John C. , Parnes Nata 
Published: July 2023

Background: Members of the military are known to experience disproportionately high rates of both glenohumeral instability and superior labrum anterior-posterior (SLAP) tears when compared with civilian populations. Although the outcomes after simultaneous repair of Bankart and SLAP lesions have been well described, there is a paucity of literature available regarding the operative management of posterior instability with concomitant superior labral pathology. Purpose: To compare outcomes of combined arthroscopic posterior labral and SLAP repair with those of isolated posterior labral repair. Study Design: Cohort study; Level of evidence, 3. Methods: All consecutive patients younger than 35 years who underwent arthroscopic posterior labral repair from January 2011 to December 2016 with a minimum follow-up of 5 years were identified. From this cohort of eligible patients, all individuals who had undergone combined SLAP and posterior labral repair (SLAP cohort) versus posterior labral repair alone (instability cohort) were then identified. Outcome measures including the visual analog scale score, Single Assessment Numeric Evaluation (SANE), American Shoulder and Elbow Surgeons (ASES) score, Rowe instability score, and range of motion were collected pre- and postoperatively and scores were compared between groups. Results: In total, 83 patients met the inclusion criteria for the study. All patients were active-duty military at the time of surgery. The mean follow-up was 93.79 ± 18.06 months in the instability group and 91.24 ± 18.02 months in the SLAP group ( P = .5228). Preoperative SANE and ASES scores were significantly worse in the SLAP group. Both groups experienced statistically significant improvements in outcome scores postoperatively ( P < .0001 for all), and there were no significant differences in any outcome scores or range of motion between groups. In total, 39 patients in the instability cohort and 37 in the SLAP cohort returned to preinjury levels of work (92.86% vs 90.24%, respectively; P = .7126), and 38 instability patients and 35 SLAP patients returned to preinjury levels of sporting activity (90.48% vs 85.37%, respectively; P = .5195). Two patients in the instability group and 4 patients in the SLAP group were medically discharged from the military (4.76% vs 9.76%; P = .4326), and 2 patients in each cohort had experienced treatment failure at the final follow-up (4.76% vs 4.88%; P > .9999). Conclusion: Combined posterior labral and SLAP repair led to statistically and clinically significant increases in outcome scores and high rates of return to active-duty military service that did not differ significantly from the results after isolated posterior labral repair. The results of this study indicate that simultaneous repair is a viable treatment option for the management of combined lesions in active-duty military patients <35 years of age.
Differences Between High and Low Performing Police Agencies in Clearing Robberies, Aggravated Assaults, and Burglaries: Findings From an Eight-Agency Case Study
Authors: Lum Cynthia , Wellford Charles , Scott Thomas , Vovak Heather , Scherer Jacqueline A. , Goodier Michael 
Published: July 2023

This eight-agency case study analyzes the characteristics of four high-and four low-performing police agencies, as measured by their long-term crime clearance rates. High and low performers were identified through a systematic assessment of 30 years of clearance rates of robberies, aggravated assaults, burglaries, and homicides for the largest 100 police departments in the United States. Researchers then conducted in-depth case studies of eight of these agencies—four of the highest and four of the lowest ranking in terms of their investigative practices. Comparisons of high-and low-performing agencies reveal differences in organizational structure; leadership and resources; selection, training, and performance review for investigators; case assignment and investigative processes; and community interactions. These findings provide direct guidance to agencies seeking to strengthen their investigative organization and practices.
Peripheral intravenous therapy infiltration/extravasation (PIVIE) risks and the potential for earlier notification of events using a novel sensor technology in a neonatal population
Authors: van Rens Matheus FPT , Vijlbrief Daniel , Braun Sophie , Hugill Kevin , van Loon Fredericus HJ , van de Hoogen Agnes 
Published: July 2023

Background: Intravenous (IV) therapy using short peripheral IV catheters (PIVC) is commonplace with neonatal patients. However, this therapy is associated with high complication rates including the leakage of infused fluids from the vasculature into the surrounding tissues; a condition referred to as, peripheral IV infiltration/extravasation (PIVIE). Objective: The quality improvement project aimed to identify the prevalence of known risk factors for PIVIE in the neonatal intensive care unit (NICU) and explore the feasibility of using novel optical sensor technology to aid in earlier detection of PIVIE events. Methods: The plan, do, study, act (PDSA) model of quality improvement (QI) was used to provide a systematic framework to identify PIVIE risks and evaluate the potential utility of continuous PIVC monitoring using the ivWatch model 400® system. The site was provided with eight monitoring systems and consumables. Hospital staff were supported with theoretical education and bedside training about the system operations and best use practices. Results: In total 113 PIVIE’s (graded II–IV) were recorded from 3476 PIVCs, representing an incidence of 3.25%. Lower birth weight and gestational age were statistically significant factors for increased risk of PIVIE ( p = 0.004); all other known risk factors did not reach statistical significance. Piloting the ivWatch with 21 PIVCs using high-risk vesicant solutions over a total of 523.9 h (21.83 days) detected 11 PIVIEs (graded I–II). System sensitivity reached 100%; 11 out of 11 PIVIEs were detected by the ivWatch before clinician confirmation. Conclusions: Prevailing risk factors for PIVIE in the unit were comparable to those published. Continuous infusion site monitoring using the ivWatch suggests this technology offers the potential to detect PIVIE events earlier than relying on intermittent observation alone (i.e. the current standard of care). However, large-scale study with neonatal populations is required to ensure the technology is optimally configured to meet their needs.