bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cryptic to conventional cytogenetics: Philadelphia-like ALL presenting with hypereosinophilia
Authors: Chahine Zena , Yenwong Fai Leonard , Wei Sainan , Qasrawi Ayman 
Published: January 2025

BCR::ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like BCR::ABL1 positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such asCRLF2, ABL1, ABL2, JAK2, PDGFRBandEPOR. Cases with CRLF2 rearrangements account for approximately 50% of cases of Philadelphia-like acute lymphoblastic leukaemia (Ph-like ALL), and the frequency of specific genomic lesions varies with ethnicity such that IGH::CRLF2 translocations are more common in Hispanics and Native Americans.We report two cases of BCR::ABL1-like ALL, with significant eosinophilia. A Hispanic man in his early 20s and a Hispanic woman in her 50s presented with leukocytosis and eosinophilia. Bone marrow flow cytometry revealed lymphoblasts expressing CD19, CD10, partial CD20, CD22, CD79a, CD38, CD34, TdT and HLA-DR. Examination of the bone marrow biopsy and aspirate exhibited a hypercellular bone marrow with increased blasts and elevated eosinophils. Fluorescence in situ hybridisation (FISH) demonstrated a cryptic chromosomal rearrangement between the X chromosome and chromosome 14 at breakpoints involving IGH at 14q32 and CRLF2 at Xp22.33, t(X;14)(p22.33; q32).These findings confirmed the diagnosis of BCR::ABL1-like B-ALL with IGH::CRLF2 rearrangement. One patient (man) attained complete remission with induction therapy using the paediatric CALGB 10403 protocol, while the other patient (woman) had a poor outcome after receiving a hyper-fractionated cyclophosphamide, vincristine, doxorubicin and dexamethasone regimen. These two cases demonstrate an unusual presentation of BCR::ABL1-like B-ALL and emphasise the importance of appropriate cytogenetic studies for correct diagnosis. When treated with conventional chemotherapy, these cases carry a poor prognosis and might require allogeneic transplantation.
Concurrent pilonidal sinus of the nape of the neck and sacrococcygeal region
Authors: Hiremath Bharati , Khurana Sanyam , Nandakumar B M 
Published: January 2025

The most common site for a pilonidal sinus is the sacrococcygeal region, typically affecting hirsute males. Hair entrapment beneath the skin triggers a granulomatous reaction, leading to the formation of a sinus tract. Here, we present a rare case of concurrent pilonidal abscess in both the nape of the neck and the natal cleft. To date, only five similar cases have been reported in the literature, making this presentation unique.The patient, in his mid-30s, presented with recurrent swelling and discharging sinuses in both the nape of the neck and the intergluteal region. The surgical intervention included excision of the sinus tract in the neck and wide local excision with Limberg flap reconstruction in the sacrococcygeal region.One year post-surgery, the patient showed complete healing with no recurrence observed during follow-up.
Association of muscle strength and cardiorespiratory fitness with all-cause and cancer-specific mortality in patients diagnosed with cancer: a systematic review with meta-analysis
Authors: Bettariga Francesco , Galvao Daniel , Taaffe Dennis , Bishop Chris , Lopez Pedro , Maestroni Luca , Quinto Giulia , Crainich Umberto , Verdini Enrico , Bandini Enrico , Natalucci Valentina , Newton Robert U 
Published: January 2025

ObjectivesTo examine the association between muscle strength and cardiorespiratory fitness (CRF) with all-cause and cancer-specific mortality in patients diagnosed with cancer, and whether these associations are affected by type and/or stage of cancer.MethodA systematic review with meta-analysis was carried out. Five bibliographic databases were searched to August 2023.ResultsForty-two studies were included (n=46 694). Overall, cancer patients with high muscle strength or CRF levels (when dichotomised as high vs low) had a significant reduction in risk of all-cause mortality by 31–46% compared with those with low physical fitness levels. Similarly, a significant 11% reduction was found for change per unit increments in muscle strength. In addition, muscle strength and CRF were associated with an 8–46% reduced risk of all-cause mortality in patients with advanced cancer stages, and a 19–41% reduced risk of all-cause mortality was observed in lung and digestive cancers. Lastly, unit increments in CRF were associated with a significant 18% reduced risk of cancer-specific mortality.ConclusionHigh muscle strength and CRF were significantly associated with a lower risk of all-cause mortality. In addition, increases in CRF were associated with a reduced risk of cancer-specific mortality. These fitness components were especially predictive in patients with advanced cancer stages as well as in lung and digestive cancers. This highlights the importance of assessing fitness measures for predicting mortality in cancer patients. Given these findings, tailored exercise prescriptions to improve muscle strength and CRF in patients with cancer may contribute to reducing cancer-related mortality.
Risk of renal complications and death in young and middle-aged Swedes with parental type 1 diabetes: a nation-wide, prospective cohort study
Authors: Fredriksson Marie , Persson Emma , Möllsten Anna , Lind Torbjörn 
Published: January 2025

IntroductionThis study aimed to investigate if individuals with childhood-onset type 1 diabetes having a parent with the same condition (parental diabetes) had worse metabolic control and an increased risk of death and renal failure compared with those with parents without type 1 diabetes (sporadic diabetes).Research design and methodsWe conducted a population-based cohort study using data from the Swedish Childhood Diabetes Register, including cases with onset of type 1 diabetes before the age of 15 and recorded between 1977 and 2010. The cohort was linked to national registers to compare mortality, renal failure, and glycated hemoglobin (HBA1c) levels.ResultsWe identified 16 572 incident cases of childhood-onset type 1 diabetes. Of these, 15 701 had data on parental diabetes status, with 1390 (8.9%) having at least one parent with this condition. HbA1c data were available in 9105 individuals at 20–30 years of age, with the parental group showing higher levels compared with the sporadic diabetes group (8.4% (68 mmol/mol) vs 8.2% (66 mmol/mol), p=0.004). The Cox proportional HR for death in parental diabetes was 1.33 (95% CI 1.00 to 1.75), and the competing risk HR for renal failure was 1.27 (95% CI 1.08 to 1.50). Women in the parental diabetes group had a higher risk of early death (HR 1.79, 95% CI 1.17 to 2.72) compared with the sporadic diabetes group.ConclusionsIndividuals with parental diabetes had slightly higher HbA1c and elevated risks of renal failure and death compared with those with sporadic diabetes, especially pronounced in women. Although the exact mechanisms behind these differences are unclear, we suggest that individualized care may benefit individuals with parental type 1 diabetes.
Global comparison of the economic costs of coronary heart disease: a systematic review and meta-analysis
Authors: Shakya Sangita , Shrestha Anita , Robinson Suzanne , Randall Sean , Mnatzaganian George , Brown Helen , Boyd James , Xu Dan , Lee Crystal Man Ying , Brumby Susan , Peeters Anna , Lucas James , Gauci Sarah , Huxley Rachel , O’Neil Adrienne , Gao Lan 
Published: January 2025

ObjectivesCoronary heart disease (CHD) is the leading cause of global morbidity and mortality, yet no comprehensive evaluation of its global economic costs exists. We conducted a systematic review with meta-analysis to examine the costs of CHD treatment by region and CHD subtypes, examine whether there are cost difference by sex, and examine costing methodologies.DesignWe conducted a systematic review and meta-analysis of non-randomised studies.Data sourcesWe searched Medline, Embase, CINAHL, EconLit and Google Scholar from 1 January 2000 to February 2023.Eligibility criteria for selecting studiesWe included observational studies reporting economic costs of CHD treatment and outcomes for adults that were published in English.Data extraction and synthesisData extraction and quality assessment were independently undertaken by two reviewers. Costs were converted to percentage of gross domestic product (GDP) per capita of corresponding country. A random-effects model was used for meta-analysis using StataSE V.18 to calculate the pooled percentage. Heterogeneity was assessed using the I2statistic. Meta-regression and bias assessment were performed.ResultsOut of 20 100 records identified, 37 studies (including 2 564 189 individuals) from 22 countries were included in the qualitative synthesis and the quantitative meta-analysis. In most countries, the annual cost of CHD exceeds many times the total health expenditure per capita. The pooled direct annual cost of CHD per patient varied from 4.9% to 137.8% of GDP per capita (Int$ purchasing power parity), with pooled percentage of 21.7% (95% CI 15.3, 28.1) for those with CHD. Slight difference in the annual pooled cost of CHD was observed, with a 2% of GDP per capita higher cost in men (95% CI 0.8, 3.2). Most studies applied a top-down costing approach (n=21).ConclusionsThe review illustrates the expense associated with CHD, which is varied by region and CHD subtypes. The observed cost difference by sex warrants further exploration of sex-specific factors influencing cost disparities. Exploring advanced costing methods such as time-driven activity-based costing can optimise resource allocation and identify opportunities to reduce unnecessary costs and cost disparities.PROSPERO registration numberCRD42023412044.
Knowledge, attitudes and practices regarding pulmonary rehabilitation among patients with chronic respiratory diseases: a cross-sectional questionnaire-based study in a tertiary hospital in China
Authors: Su Lin , Wang Lingling , Ding Jie , Zhang Xiaohong , Wang Ruiying , Bai Xueli , Chen Yuan , Liu Xiansheng , Wei Shuang 
Published: January 2025

ObjectivesThis study aimed to evaluate the knowledge, attitudes and practices (KAP) of patients with chronic respiratory diseases towards pulmonary rehabilitation.DesignCross-sectional, web-based questionnaire study.SettingTertiary healthcare hospital in Taiyuan, Shanxi Province, China.ParticipantsA total of 511 patients with chronic respiratory diseases were recruited from the hospital’s outpatient and inpatient departments. After data cleaning, 501 valid responses (98.04% valid response rate) were analysed. Participants were aged 18 or older, able to complete the questionnaire independently or with assistance and included individuals from diverse demographic backgrounds.Primary and secondary outcome measuresPrimary outcomes included KAP scores related to pulmonary rehabilitation. The secondary outcome assessed the association between demographic factors (age, gender, income, education, smoking status) and KAP scores using structural equation modelling (SEM).ResultsThe mean KAP scores were 1.26±2.85 for knowledge, 30.46±3.63 for attitudes and 34.58±5.55 for practices. SEM analysis showed that knowledge directly influenced attitudes (β=−0.538, p<0.001) and both knowledge (β=0.668, p<0.001) and attitudes (β=0.668, p<0.001) significantly influenced practices. Additionally, demographic factors, such as monthly household income, type of chronic respiratory disease, educational level and smoking status were significantly associated with variations in KAP scores (all p<0.05).ConclusionsPatients demonstrated poor knowledge, generally positive attitudes, and moderate practices regarding pulmonary rehabilitation. Tailored educational interventions focusing on bridging the knowledge gap and promoting positive behavioural changes are essential for improving pulmonary rehabilitation engagement among chronic respiratory disease patients.Trial registration numberChiCTR2400080271.
Cultural humility strategies for recruitment and retention of minoritised participants: a scoping review protocol
Authors: Chehade Mireille , McLean Kellie , Ashmawi Samar Mohsen , Fernandez Cajavilca Moroni , Phung Baomi T , Clark-Cutaia Maya N , Campbell Rice Brynne 
Published: January 2025

IntroductionCultural humility practices are shown to be effective when working with diverse populations in healthcare settings. Research recruitment and retention among minoritised groups are essential to address health inequities. Given the successful application to healthcare settings, cultural humility practices may hold promise for recruiting and retaining minoritised individuals. However, little is known about how these practices may be applied to health research. The objective of this scoping review is to understand the extent to which cultural humility practices are applied to health research and how they may be leveraged to optimise recruitment and retention among minoritised populations.Methods and analysisThis scoping review will follow the Joanna Briggs Institute methodology for scoping reviews. Databases to be searched will include Medline (Ovid), CINAHL (EBSCOhost), EMBASE (Ovid), PsycINFO (Ovid) and Web of Science Core Collection. Literature from 1993 to 2024 that captures the concept of cultural humility in health research with racial and ethnic or gender and sexual minoritised populations in the USA will be considered. The identified pool of records will be imported to Covidence, an online data management software. At the first screening stage, two independent reviewers will screen for title and abstract relevance. A third reviewer will be recruited to resolve discrepancies, if any. Records achieving consensus will have their full texts screened against the eligibility criteria and included in the final pool. Two tables will be developed to guide the data extraction process. The tabular format will be piloted and agreed on by all research team members. Descriptive content analysis will outline the operationalisation of cultural humility and identify strategies found effective in improving the representation of minoritised populations.Ethics and disseminationEthical approval is not required in line with the scoping review methodology. Dissemination of the findings mapping the cultural humility strategies found effective in health research will be conducted through a peer-reviewed publication.Trial registration numberOpen Science Frameworkhttps://osf.io/vra7h.
How do health, spirituality and well-being intersect in the Métis Nation of Alberta (MNA) Region 3? A Métis-guided, community-based, participatory study
Authors: Ginn Carla , Ginn Craig W C , Barnabe Cheryl , Dumont/Vaness Bergum Doreen , Gentes Judy , Tatrallyay Priscilla 
Published: January 2025

ObjectivesThe purpose of our research was to understand intersections between health, spirituality and well-being in the Métis Nation of Alberta (MNA) Region 3.DesignThis Métis-guided, community-based, participatory research builds on our previous patient-oriented community-based study where we co-developed a qualitative structured survey with leaders, Elders and community members to explore health, spirituality and well-being in the MNA Region 3.SettingMétis people are affected by historical and contemporary impacts of colonisation. This includes the residential school experience, impacting how Métis people relate to themselves, to others and to their culture. Alberta has the highest Métis population in Canada, and our research is based in the most densely populated region.Participants101 surveys were completed between September and November 2021, via Qualtrics. Twenty-five participants who completed surveys participated in community-based participatory research sharing circle data analysis groups in January 2022, via Zoom.ResultsSix overarching themes were developed in our participatory data analysis: (1) searching, (2) interconnectedness, (3) colonisation and systems, (4) traditional practices and teachings, (5) spiritual and religious practices and (6) relationship with Métis identity.ConclusionsWe discovered multiple intersections between health, spirituality and well-being within the MNA Region 3. Our results indicate that the impacts of colonisation for Métis people are poorly understood. More research is needed to understand the ongoing impacts of colonisation, including increased understanding about Métis identity, health, spirituality, religion and well-being. In particular, more research is needed about the effects of intergenerational trauma in the broader MNA, and across Canada.
Development and validation of machine-learning models for predicting the risk of hypertriglyceridemia in critically ill patients receiving propofol sedation using retrospective data: a protocol
Authors: Deng Jiawen , Heybati Kiyan , Yadav Hemang 
Published: January 2025

IntroductionPropofol is a widely used sedative-hypnotic agent for critically ill patients requiring invasive mechanical ventilation (IMV). Despite its clinical benefits, propofol is associated with increased risks of hypertriglyceridemia. Early identification of patients at risk for propofol-associated hypertriglyceridemia is crucial for optimising sedation strategies and preventing adverse outcomes. Machine-learning (ML) models offer a promising approach for predicting individualised patient risks of propofol-associated hypertriglyceridemia.Methods and analysisWe propose the development of an ML model aimed at predicting the risk of propofol-associated hypertriglyceridemia in ICU patients receiving IMV. The study will use retrospective data from four Mayo Clinic sites. Nested cross validation (CV) will be employed, with a tenfold inner CV loop for model tuning and selection as well as an outer loop using leave-one-site-out CV for external validation. Feature selection will be conducted using Boruta and least absolute shrinkage and selection operator-penalised logistic regression. Data preprocessing steps include missing data imputation, feature scaling and dimensionality reduction techniques. Six ML algorithms will be tuned and evaluated. Bayesian optimisation will be used for hyperparameter selection. Global model explainability will be assessed using permutation importance, and local model explainability will be assessed using SHapley Additive exPlanations.Ethics and disseminationThe proposed ML model aims to provide a reliable and interpretable tool for clinicians to predict the risk of propofol-associated hypertriglyceridemia in ICU patients. The final model will be deployed in a web-based clinical risk calculator. The model development process and performance measures obtained during nested CV will be described in a study publication to be disseminated in a peer-reviewed journal. The proposed study has received ethics approval from the Mayo Clinic Institutional Review Board (IRB #23–0 07 416).
Feasibility of implementing family-integrated newborn care for hospitalised preterm and low birthweight infants in newborn care units of Ethiopia: a mixed-methods design
Authors: Kahsay Znabu Hadush , Medhanyie Araya Abrha , Mariam Damen Haile , Ersdal Hege Langli , Rettedal Siren 
Published: January 2025

ObjectiveTo evaluate the feasibility of implementing family-integrated newborn care (FINC) for hospitalised preterm and low birthweight infants in Ethiopia. Despite the WHO’s call for family engagement in newborn care, evidence of the feasibility of implementation remains scarce.DesignAn observational feasibility study employing a mixed-methods design comprising a quantitative cross-sectional survey among 157 healthcare providers (HCPs) and a qualitative Participatory Rural Appraisal.SettingThe study was conducted in 30 neonatal care units (NCUs) of hospitals in Tigray, Northern Ethiopia.ParticipantsHCPs who were on duty in NCUs during the data collection period were included in the study.AnalysisDescriptive statistics were obtained for the quantitative data using STATA V.16, while qualitative data were coded and analysed using a framework analysis approach with qualitative data analysis software (Atlas.ti V.9).ResultsIn total, 157 HCPs were enrolled with a mean (SD) age of 32 (±6.8) years. Participants scored a higher weighted mean score for implementability (0.75) and a lower mean score for adaptability (0.50). Out of the 157 HCPs, the majority perceived that FINC was technically implementable (96%), conceptually acceptable (74%) and ethically correct (88%). Furthermore, 49% perceived that integrating FINC into the existing system was technically manageable, while 52% agreed that it was expandable to other healthcare facilities. However, HCPs reported lower confidence regarding its practicality (32%), integration (31%) and adaptability (16%). NCU space (97%), number of NCU rooms (87%) and increased risk of infection (83%) were perceived as potential challenges to the feasibility of FINC. More importantly, only 33% of HCPs felt that there was an organisational demand to consider FINC in NCUs. Furthermore, there was a statistically significant variation in the mean score for acceptability and perception of additional burden between age groups (p=0.04).Conclusions and recommendationsThe current study shows that FINC is conceptually acceptable, technically implementable and expandable to other settings, with weighted mean scores of 0.75, 0.72 and 0.66, respectively. However, its practicality (0.53), integration (0.52) and adaptability (0.50) could be generally constrained mainly by the poor organisational infrastructure related to NCU space and infection prevention measures. Addressing motivational, attitudinal and competency gaps of NCU HCPs, along with organisational capacity, would be required.