bluuebunny/crossref_metadata_2025_split huggingface dataset:
Describing and visualizing the patient and caregiver experience of cancer pain in the home context using ecological momentary assessments
Authors: LeBaron Virginia , Homdee Nutta , Ogunjirin Emmanuel , Patel Nyota , Blackhall Leslie , Lach John 
Published: August 2023

Background Pain continues to be a difficult and pervasive problem for patients with cancer, and those who care for them. Remote health monitoring systems (RHMS), such as the Behavioral and Environmental Sensing and Intervention for Cancer (BESI-C), can utilize Ecological Momentary Assessments (EMAs) to provide a more holistic understanding of the patient and family experience of cancer pain within the home context. Methods Participants used the BESI-C system for 2-weeks which collected data via EMAs deployed on wearable devices (smartwatches) worn by both patients with cancer and their primary family caregiver. We developed three unique EMA schemas that allowed patients and caregivers to describe patient pain events and perceived impact on quality of life from their own perspective. EMA data were analyzed to provide a descriptive summary of pain events and explore different types of data visualizations. Results Data were collected from five (n = 5) patient-caregiver dyads (total 10 individual participants, 5 patients, 5 caregivers). A total of 283 user-initiated pain event EMAs were recorded (198 by patients; 85 by caregivers) over all 5 deployments with an average severity score of 5.4/10 for patients and 4.6/10 for caregivers’ assessments of patient pain. Average self-reported overall distress and pain interference levels (1 = least distress; 4 = most distress) were higher for caregivers ([Formula: see text] 3.02, [Formula: see text]) compared to patients ([Formula: see text] 2.82, [Formula: see text] 2.25, respectively) while perceived burden of partner distress was higher for patients (i.e., patients perceived caregivers to be more distressed, [Formula: see text] 3.21, than caregivers perceived patients to be distressed, [Formula: see text]). Data visualizations were created using time wheels, bubble charts, box plots and line graphs to graphically represent EMA findings. Conclusion Collecting data via EMAs is a viable RHMS strategy to capture longitudinal cancer pain event data from patients and caregivers that can inform personalized pain management and distress-alleviating interventions.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
Authors: Stefanucci Luca , Collins Janine , Sims Matthew C. , Barrio-Hernandez Inigo , Sun Luanluan , Burren Oliver S. , Perfetto Livia , Bender Isobel , Callahan Tiffany J. , Fleming Kathryn , Guerrero Jose A. , Hermjakob Henning , Martin Maria J. , Stephenson James , Paneerselvam Kalpana , Petrovski Slavé , Porras Pablo , Robinson Peter N. , Wang Quanli , Watkins Xavier , Frontini Mattia , Laskowski Roman A. , Beltrao Pedro , Di Angelantonio Emanuele , Gomez Keith , Laffan Mike , Ouwehand Willem H. , Mumford Andrew D. , Freson Kathleen , Carss Keren , Downes Kate , Gleadall Nick , Megy Karyn , Bruford Elspeth , Vuckovic Dragana 
Published: August 2023

Abstract
Rare genetic diseases affect millions, and identifying causal DNA variants is essential for patient care. Therefore, it is imperative to estimate the effect of each independent variant and improve their pathogenicity classification. Our study of 140 214 unrelated UK Biobank (UKB) participants found that each of them carries a median of 7 variants previously reported as pathogenic or likely pathogenic. We focused on 967 diagnostic-grade gene (DGG) variants for rare bleeding, thrombotic, and platelet disorders (BTPDs) observed in 12 367 UKB participants. By association analysis, for a subset of these variants, we estimated effect sizes for platelet count and volume, and odds ratios for bleeding and thrombosis. Variants causal of some autosomal recessive platelet disorders revealed phenotypic consequences in carriers. Loss-of-function variants in MPL, which cause chronic amegakaryocytic thrombocytopenia if biallelic, were unexpectedly associated with increased platelet counts in carriers. We also demonstrated that common variants identified by genome-wide association studies (GWAS) for platelet count or thrombosis risk may influence the penetrance of rare variants in BTPD DGGs on their associated hemostasis disorders. Network-propagation analysis applied to an interactome of 18 410 nodes and 571 917 edges showed that GWAS variants with large effect sizes are enriched in DGGs and their first-order interactors. Finally, we illustrate the modifying effect of polygenic scores for platelet count and thrombosis risk on disease severity in participants carrying rare variants in TUBB1 or PROC and PROS1, respectively. Our findings demonstrate the power of association analyses using large population datasets in improving pathogenicity classifications of rare variants.
CD19/CD22 targeting with cotransduced CAR T cells to prevent antigen-negative relapse after CAR T-cell therapy for B-cell ALL
Authors: Ghorashian Sara , Lucchini Giovanna , Richardson Rachel , Nguyen Kyvi , Terris Craig , Guvenel Aleks , Oporto-Espuelas Macarena , Yeung Jenny , Pinner Danielle , Chu Jan , Williams Lindsey , Ko Ka-Yuk , Walding Chloe , Watts Kelly , Inglott Sarah , Thomas Rebecca , Connor Christopher , Adams Stuart , Gravett Emma , Gilmour Kimberly , Lal Alka , Kunaseelan Sangeetha , Popova Bilyana , Lopes Andre , Ngai Yenting , Hackshaw Allan , Kokalaki Evangelia , Carulla Milena Balasch , Mullanfiroze Khushnuma , Lazareva Arina , Pavasovic Vesna , Rao Anupama , Bartram Jack , Vora Ajay , Chiesa Robert , Silva Juliana , Rao Kanchan , Bonney Denise , Wynn Robert , Pule Martin , Hough Rachael , Amrolia Persis J. 
Published: August 2023

Abstract
CD19-negative relapse is a leading cause of treatment failure after chimeric antigen receptor (CAR) T-cell therapy for acute lymphoblastic leukemia. We investigated a CAR T-cell product targeting CD19 and CD22 generated by lentiviral cotransduction with vectors encoding our previously described fast-off rate CD19 CAR (AUTO1) combined with a novel CD22 CAR capable of effective signaling at low antigen density. Twelve patients with advanced B-cell acute lymphoblastic leukemia were treated (CARPALL [Immunotherapy with CD19/22 CAR Redirected T Cells for High Risk/Relapsed Paediatric CD19+ and/or CD22+ Acute Lymphoblastic Leukaemia] study, NCT02443831), a third of whom had failed prior licensed CAR therapy. Toxicity was similar to that of AUTO1 alone, with no cases of severe cytokine release syndrome. Of 12 patients, 10 (83%) achieved a measurable residual disease (MRD)–negative complete remission at 2 months after infusion. Of 10 responding patients, 5 had emergence of MRD (n = 2) or relapse (n = 3) with CD19- and CD22-expressing disease associated with loss of CAR T-cell persistence. With a median follow-up of 8.7 months, there were no cases of relapse due to antigen-negative escape. Overall survival was 75% (95% confidence interval [CI], 41%-91%) at 6 and 12 months. The 6- and 12-month event-free survival rates were 75% (95% CI, 41%-91%) and 60% (95% CI, 23%-84%), respectively. These data suggest dual targeting with cotransduction may prevent antigen-negative relapse after CAR T-cell therapy.
Genetic diversity and structure of mongolian gazelle (Procapra gutturosa) populations in fragmented habitats
Authors: Shi Lupeng , Yang Xiufeng , Cha Muha , Lyu Tianshu , Wang Lidong , Zhou Shengyang , Dong Yuehuan , Dou Huashan , Zhang Honghai 
Published: August 2023

Abstract
Background
The Mongolian gazelle (Procapra gutturosa) population has shown a considerable range of contractions and local extinctions over the last century, owing to habitat fragmentation and poaching. A thorough understanding of the genetic diversity and structure of Mongolian gazelle populations in fragmented habitats is critical for planning effective conservation strategies.

Result
In this study, we used eight microsatellite loci and mitochondrial cytochrome b (Cytb) to compare the levels of genetic diversity and genetic structure of Mongolian gazelle populations in the Hulun Lake National Nature Reserve (HLH) with those in the China-Mongolia border area (BJ). The results showed that the nucleotide diversity and observed heterozygosity of the HLH population were lower than those of the BJ population. Moreover, the HLH and BJ populations showed genetic differentiation. We concluded that the HLH population had lower genetic diversity and a distinct genetic structure compared with the BJ population.

Conclusion
The genetic diversity of fragmented Mongolian gazelle populations, can be improved by protecting these populations while reinforcing their gene exchange with other populations. For example, attempts can be made to introduce new individuals with higher genetic diversity from other populations to reduce inbreeding.
Is coronary artery calcium an independent risk factor for white matter hyperintensity?
Authors: Jin Hui , Qin Xue , Zhao Fanfan , Yan Yuting , Meng Yu , Shu Zhenyu , Gong Xiangyang 
Published: August 2023

Abstract
Background
Cardiovascular diseases have been considered the primary cause of disability and death worldwide. Coronary artery calcium (CAC) is an important indicator of the severity of coronary atherosclerosis. This study is aimed to investigate the relationship between CAC and white matter hyperintensity (WMH) in the context of diagnostic utility.

Methods
A retrospective analysis was conducted on 342 patients with a diagnosis of WMH on magnetic resonance images (MRI) who also underwent chest computed tomography (CT) scans. WMH volumes were automatically measured using a lesion prediction algorithm. Subjects were divided into four groups based on the CAC score obtained from chest CT scans. A multilevel mixed-effects linear regression model considering conventional vascular risk factors assessed the association between total WMH volume and CAC score.

Results
Overall, participants with coronary artery calcium (CAC score > 0) had larger WMH volumes than those without calcium (CAC score = 0), and WMH volumes were statistically different between the four CAC score groups, with increasing CAC scores, the volume of WMH significantly increased. In the linear regression model 1 of the high CAC score group, for every 1% increase in CAC score, the WMH volume increases by 2.96%. After including other covariates in model 2 and model 3, the β coefficient in the high CAC group remains higher than in the low and medium CAC score groups.

Conclusion
In elderly adults, the presence and severity of CAC is related to an increase in WMH volume. Our findings suggest an association between two different vascular bed diseases in addition to traditional vascular risk factors, possibly indicating a comorbid mechanism.
Association between physical activity and body posture: a systematic review and meta-analysis
Authors: Salsali Mohammad , Sheikhhoseini Rahman , Sayyadi Parisa , Hides Julie A. , Dadfar Mahdis , Piri Hashem 
Published: August 2023

Abstract
Objective
To estimate the possible associations between posture and physical activity (PA).

Design
A systematic review and meta-analysis.

Data sources
The search was conducted in seven databases (PubMed, Web of Science, SportDiscus, EMBASE, Scopus, Cochrane Library, and CINAHL) for studies published from inception to January 2023.

Eligibility criteria for selecting studies
Studies were required to meet following criteria: (1) study design: cross-sectional, case control and cohort studies. (2) Participants: people of all ages without any diagnosed diseases. (3) Exposure and outcome: studies that examined the possible effect or correlations between PA, physical inactivity, physical exertion and human body posture.

Results
Sixteen cross-sectional studies, two cohort studies and one case control study involving a total of 16772 participants aged from 6 to 79 years were included. Correlational studies showed that there was a significant relationship between PA and posture (C = 0.100, CI 95% = 0.012–0.186). However, regression studies demonstrated that there was not a significant association between PA and posture (C = 1.00, CI 95% = 0.998–1.002). Three studies investigated the association between PA and the lumbar lordosis and showed that there was not a significant association between the lordosis and PA (CI 95%: -0.253–0.048, P = 0.180). In addition, four studies showed that there were not any associations between scoliosis and PA (CI 95%: 0.819, 1.123, P = 0.607). The evidence of heterogeneity and publication bias was found among all analyzed data (P < 0.05). Also, meta regression was used for age and BMI and the results were not significant.

Conclusion
Although a weak correlation was shown to exist between PA and human posture, the odds ratio indicated that there was not a significant association between PA and human posture. The lack of a significant relationship may indicate that multiple biopsychosocial factors may be involved in human posture. In summary, our study highlights the need for caution when interpreting the results of meta-analyses, particularly when there is significant heterogeneity and publication bias in the included studies.
Machine learning-based nomogram for 30-day mortality prediction for patients with unresectable malignant biliary obstruction after ERCP with metal stent: a retrospective observational cohort study
Authors: Zhu Zongdong , Hu Kaixin , Zhao Fengqing , Liu Wen , Zhou Hongkun , Zhu Zongliang , Li Huangbao 
Published: August 2023

Abstract
Background
This study aimed to investigate the risk factors for 30-day mortality in patients with malignant biliary obstruction (MBO) after endoscopic retrograde cholangiopancreatography (ERCP) with endobiliary metal stent placement. Furthermore, we aimed to construct and visualize a prediction model based on LASSO-logistic regression.

Methods
Data were collected from 245 patients who underwent their first ERCP with endobiliary metal stent placement for unresectable MBO between June 1, 2013, and August 31, 2021. Univariable and multivariable logistic regression analyses were conducted to identify the risk factors for 30-day mortality. We subsequently developed a logistic regression model that incorporated multiple parameters identified by LASSO regression. The model was visualized and the nomogram was plotted. Risk stratification was performed based on nomogram-derived scores.

Results
The 30-day mortality rate was 10.7% (23/245 patients). Distant metastasis, total bilirubin, post-ERCP complications, and successful drainage were independent risk factors of 30-day mortality. The variables screened by LASSO regression, including distant metastasis, total bilirubin, post-ERCP complications, and successful drainage, were incorporated into the logistic model. The results were visualized through a nomogram based on the model. To assess the model’s performance, discrimination was evaluated using the area-under-the-curve values obtained from receiver operating characteristic analyses with 10-fold cross-validation in the training group and validated in the testing group. The calibration curve showed the good predictive ability of the model. Decision curve analysis is used to evaluate the clinical application of nomogram. Finally, we performed risk stratification based on the risk calculated using the nomogram. Patients were assigned to the low-, moderate-, and high-risk groups based on their probability scores. The Kaplan–Meier survival curves for the different nomogram-based groups were significantly different (p < 0.001).

Conclusions
We developed a nomogram using the LASSO-logistic regression model to forecast the 30-day mortality rate in patients who had undergone ERCP with endobiliary metal stent placement due to MBO. This nomogram can assist in identifying individuals at high-risk of 30-day mortality following ERCP.
Omega-3 nanoemulgel in prevention of radiation-induced oral mucositis and its associated effect on microbiome: a randomized clinical trial
Authors: Morsy Basma M. , El Domiaty Shahira , Meheissen Mohamed A. M. , Heikal Lamia A. , Meheissen Marwa A. , Aly Nourhan M. 
Published: August 2023

Abstract
Background
Oral mucositis (OM) is recognized as one of the most frequent debilitating sequelae encountered by head and neck cancer (HNC) patients treated by radiotherapy. This results in severe mucosal tissue inflammation and oral ulcerations that interfere with patient’s nutrition, quality of life (QoL) and survival. Omega-3 (ω-3) polyunsaturated fatty acids (PUFAs) have recently gained special interest in dealing with oral diseases owing to its anti-inflammatory, anti-oxidant and wound healing properties. Thus, this study aims to assess topical Omega-3 nanoemulgel efficacy in prevention of radiation-induced oral mucositis and regulation of oral microbial dysbiosis.

Materials and methods
Thirty-four head and neck cancer patients planned to receive radiotherapy were randomly allocated into two groups: Group I: conventional preventive treatment and Group II: topical Omega-3 nanoemulgel. Patients were evaluated at baseline, three and six weeks after treatment using the World Health Organization (WHO) grading system for oral mucositis severity, Visual Analogue Scale (VAS) for perceived pain severity, and MD-Anderson Symptom Inventory for Head and Neck cancer (MDASI-HN) for QoL. Oral swabs were collected to assess oral microbiome changes.

Results
VAS scores and WHO mucositis grades were significantly lower after six weeks of treatment with topical Omega-3 nanoemulgel when compared to the conventional treatment. The total MDASI score was significantly higher in the control group after three weeks of treatment, and the head and neck subscale differed significantly at both three and six weeks. A significant reduction in Firmicutes/Bacteroidetes ratio was observed after six weeks in the test group indicating less microbial dysbiosis.

Conclusions
Topical Omega-3 nanoemulgel demonstrated a beneficial effect in prevention of radiation-induced oral mucositis with a possibility of regulating oral microbial dysbiosis.
Clinical learning evaluation questionnaire: a reliable and valid tool for the evaluation of clinical education by educators and students
Authors: Ostovarfar Jeyran , Soufi Saeed Kazemi , Moosavi Mahsa , Delavari Somayeh , Moghadami Mana , Ghazanfari Seyed Mehdi , Amini Mitra 
Published: August 2023

Abstract
Background
The clinical learning evaluation questionnaire can be used in the clinical trial period of medical students to measure the effectiveness of the clinical learning environment. The purpose of this study was to collect validity evidence of an adapted questionnaire to measure the transcultural adaptation of a Persian version of CLEQ.

Methods
A total of 200 questionnaires were completed by students who were at the end of their clinical rotation. The study instrument was the latest version of the CLEQ consists of 18 Items in four dimensions. The CLEQ was translated into Persian language through a four-step process of forward and backward translation. Data analysis was performed on two softwares, SPSS, version 22 and Lisrel, version 8.8.

Results
The results showed that the 18-question CLEQ could be applied to the Persian translation of the tool. The response process evidence of the Persian questionnaire was established through feedback from 15 students in the sample group. The content validity index (CVI) for the items were between 0.8 and 0.9, and the content validity ratio (CVR) for the entire questionnaire was 0.9. The 4-factor feature of CLEQ was good model fit. The internal consistency analysis indicated that the Cronbach's alpha values for all items of the 18-item questionnaire were equal to 0.87 and for the subscales were 0.68 to 0.79.

Conclusion
The Persian translation of the 4-factor CLEQ has sufficient validity evidence to measure the transcultural adaptability of clinical education activities by instructors and students. The validity evidence are content, response process and internal structure. We recommend that the English 6-factor and 6-factor versions of CLEQ be tested on medical students at multiple foreign academic institutions to assess their efficiency.
Clinical significance of genetic profiling based on different anatomic sites in patients with mucosal melanoma who received or did not receive immune checkpoint inhibitors
Authors: Wang Hai-Yun , Liu Ye , Deng Ling , Jiang Kuntai , Yang Xin-Hua , Wu Xiao-Yan , Guo Kai-Hua , Wang Fang 
Published: August 2023

Abstract
Background
To date, data on the efficacy of targeted therapies for mucosal melanoma (MM) are limited. In this study, we analyzed genetic alterations according to the primary site of origin, which could provide clues for targeted therapy for MM.

Methods
We conducted a retrospective cohort study of 112 patients with MM. Targeted sequencing was performed to analyze genetic aberrations. Kaplan–Meier analysis was conducted with the log-rank test to compare the significance among subgroups.

Results
In total, 112 patients with MM were included according to the anatomic sites: 38 (33.9%) in the head and neck, 22 (19.6%) in the genitourinary tract, 21 (18.8%) in the anorectum, 19 (17.0%) in the esophagus, 10 (8.9%) in the uvea, and 2 (1.8%) in the small bowel. The most significantly mutated genes included BRAF (17%), KIT (15%), RAS (15%), TP53 (13%), NF1 (12%), SF3B1 (11%), GNA11 (7%), GNAQ (5%), and FBXW7 (4%). A large number of chromosomal structural variants was found. The anatomic sites of esophagus and small bowel were independent risk factors for progression-free survival (PFS, hazard ratio [HR] 4.78, 95% confidence interval [CI] 2.42–9.45, P < 0.0001) and overall survival (OS, HR 5.26, 95% CI 2.51–11.03, P < 0.0001). Casitas B-lineage lymphoma (CBL) mutants showed significantly poorer PFS and OS. In contrast, MM patients who received immune checkpoint inhibitors (ICIs) had a significantly more favorable OS (HR 0.39, 95% CI 0.20–0.75, P = 0.008).

Conclusions
Our findings reveal the genetic features of patients with MM, mainly across six anatomic sites, offering a potential avenue for targeted therapies.