bluuebunny/crossref_metadata_2025_split huggingface dataset:
The challenges of cascade genetic testing in hereditary cancer syndromes: A few ethical considerations
Authors: Battistuzzi Linda 
Published: November 2024

Progress in the discovery and understanding of cancer susceptibility genes and ever-cheaper genomic technologies are generating precious opportunities to optimize the identification of individuals with a hereditary cancer predisposition. Any such effort will have a more significant impact if it prioritizes those most at risk of developing cancer. This premise is central to cascade genetic testing, in which healthcare professionals encourage cancer patients carrying a predisposing gene variant to discuss the implications of their test results with their at-risk relatives so that, ideally, all the at-risk individuals in that family have the option to seek genetic counseling and testing in turn. Among the relatives found to have the gene variant, those who have developed cancer can then access targeted treatment and follow-up, those who are asymptomatic can benefit from enhanced preventive measures, while those who test negative can avoid unnecessary, costly, and time-consuming screening. Despite its life-saving potential, cascade genetic testing in hereditary cancer syndromes is often reported to have disappointing uptake rates, particularly among historically disadvantaged and underrepresented communities, for reasons that include barriers in intrafamilial genetic risk communication and low health and genetic literacy. This paper will discuss the challenges of cascade genetic testing in hereditary cancer syndromes, addressing some of the ethical questions arising from its current model, from strategies aimed at improving its uptake, as well as from alternative approaches to identifying asymptomatic individuals who may carry a cancer- associated pathogenic variant.
The Cross-Sectional Association of Health Literacy With Healthy Lifestyle Behaviors in the Turkish Population: A Systematic Review and Meta-Analysis
Authors: Ünlü Gazi , Altındiş Selma 
Published: November 2024

Objective To meta-analytically investigate the cross-sectional association between health literacy (HL) and healthy lifestyle behaviors (HLBs) in the Turkish population. Data Source Web of Science, PubMed, Scopus, EBSCO, DergiPark, TRDizin, and Türkiye Council of Higher Education Thesis Center. Exclusion Criteria Not accessible in Turkish or English in full text; not on the Turkish population; addressed e-HL, digital HL, mobile HL or corporate HL; addressed HL in a specific context; did not seek any association between HL and HLBs. Inclusion Criteria Cross-sectional studies that reported a correlation coefficient or any convertible equal statistical measure for the association between HL and HLBs. Data Extraction Two reviewers independently screened the articles, extracted the data from the included studies into a structured form and assessed their methodological quality. Data Synthesis We conducted meta-analyses and reported the characteristics, outcomes, and quality assessment of studies. Results Of 3833 records accessed we included 52 that fulfilled the eligibility criteria. Our primary findings demonstrated positive low-to-moderate associations between HL and health-promoting behaviors (r = .32 [CI:.30-.35; I2 = .00]), HL and physical activity (r = .23 [CI:.18-.27; I2 = .12]), and HL and vaccination (r = .12 [CI:.07-.17; I2 = .00]). In contrast, HL was not significantly associated with non-smoking (r = .02 [CI:-.02-.36; I2 = .09]), healthy diet (r = .02 [CI:-.01-.06; I2 = .00]), and screening (r = .07 [CI:.04-.11; I2 = .07]). However, our sensitivity and meta-regression analysis results suggested that the association of HL with healthy diet seems to increase with age. On the other hand, we failed to find any convincing evidence of any of the included variables affecting the association between HL and all types of HLBs (r = .17, I2 = 95.81%). Conclusion HL has the potential to improve the HLBs of Turkish individuals, however, there is a need for better understanding of the possible underlying determinants of the association between them.
Nursing advocacy and activism: A critical analysis of regulatory documents
Authors: Mainey Lydia , Richardson Sarah , Essex Ryan , Dillard-Wright Jessica 
Published: November 2024

Background: Advocacy and activism are dynamic terms representing a spectrum of political action, aiming to achieve social or political change. The extent to which nursing advocacy and activism are legitimate nursing roles has been debated for around 50 years. Nursing regulatory documents, such as codes of conduct and professional standards, may provide direction to nurses on how they should act in the context of advocacy and activism. Aim: To explore what regulatory documents say about advocacy and activism, either explicitly or implicitly, and how they shape advocacy and activism. Research design: We used a Reflexive Qualitative Document Analysis approach with a Critical Feminist lens to analyse contemporary nursing regulatory documents from the USA, UK and Australia. Ethical considerations: This article has no human participants, and informed consent was not required. Findings: We identified eight nursing regulatory documents from the American Nurses Association, Nursing and Midwifery Council and Nursing and Midwifery Board of Australia. We constructed two major themes that reveal how nursing advocacy and activism are conceived and shaped in regulatory documents. Theme 1, Ideological arena describes the gendered and neoliberal subtexts influencing advocacy and activism. Theme 2, A five-pointed star, describes the shape of advocacy and activism in the regulatory documents. Conclusions: Regulatory documents from the USA, UK and Australia support diplomatic nursing advocacy and activism for people, equity, ourselves (nurses), the profession and systems change. However, more oppositional and disruptive advocacy and activism are potentially constrained by gendered and neoliberal subtexts that depoliticise nurses’ roles.
Determinants of Handwashing at Critical Times Among Mothers/Caregivers of Children Under-Five Years Old: Panel Data Evidence From Rural Afghanistan
Authors: Murendo Conrad , Mottershead Richard , Kimani Edwin , Chandan Kumar 
Published: November 2024

Background: Very few studies have used panel data regression models to estimate the determinants of handwashing with water and soap at critical times in a developing country. Objective: To analyse the predictors of handwashing with water and soap at critical times among mother/caregivers of children under-5 years in rural Afghanistan. Method: This study used data from 1208 mothers/caregivers of children under-5 years who were selected and interviewed at baseline and endline in 7 provinces using systematic probability proportional-to-size sampling method. Results: Mother/caregivers with access to handwashing facility with water and soap had 1.20 higher odds of washing hands at 5 critical times. Treatment at public facility, an indirect proxy of health education and having children under 2 years was associated with 1.07 and 1.05 higher odds of washing hands at 5 critical times. Access to handwashing with water and soap, treatment at public facility and children under 2 years were significant and robust to alternative specification of handwashing at least 3 times. Mothers/caregivers who reported contracting infectious diseases in the past 6 months had 1.04- and 1.52-times higher odds of handwashing at 5 critical times and at least 3 times respectively. Conclusion: Access to handwashing facility with water and soap, health education, children under 2 years and occurrence of infectious diseases were the predictors of appropriate handwashing behaviour. Therefore, there is need to improve the availability of handwashing facilities with clean water and soap to promote appropriate handwashing behaviour at critical times. In addition, there is need to promote activities that increase disposable income for households to purchase soap and handwashing facilities. There is need to promote healthcare seeking behaviour for mothers to access medical treatment and health hygiene education at public facilities vital for prevention of infectious diseases.
Disability barriers autistic girls face in secondary education: A systematic review
Authors: Urbaniak Kathryn , D’Amico Miranda 
Published: November 2024

Autistic adolescent girls face complex and diverse challenges in the school setting, specifically mental health issues, unmet social and education needs, and social exclusion. This review provides an overview of research relating to the barriers autistic females face in school settings by reporting on their experiences as well as those of autistic women reflecting on their past. This literature review presents peer-reviewed journal articles published from January 2013 to March 2023. Based on the 17 identified articles, the barriers girls face in the compulsory education setting centred on 4 themes of societal barriers grounded in gender; the institutional or physical barriers of schools; social and communicative expectations; and stigmatization. These results underscore the need for future research to centre diverse autistic lived experiences and knowledge, and autistic inclusion at all levels of participation, from self-advocacy and peer support spaces to the co-development of training and policy. Lay abstract Autistic adolescent girls face complex and diverse challenges in the school setting, specifically mental health issues, unmet social and education needs, and social exclusion. The purpose of this review was to provide a general idea of research relating to the experiences of autistic females in secondary school settings by reporting on their experiences and the lived experiences of autistic women reflecting on their past. Based on the identified articles, the barriers girls face in the compulsory education setting centred on four themes of societal barriers grounded in gender; the institutional or physical barriers of schools; social and communicative expectations; and stigmatization. The study highlighted that there is a need to sensitize and educate widely on the topic of autism for teachers, to support staff, school psychologists and peers of autistic youth. The results call attention to the need for future research to focus on the different lived experiences and knowledge of autistic girls.
Exploring the sophistications of unexplained recurrent pregnancy loss: A case-control study
Authors: Que Trinh Thi , The Nguyen Van , Trang Vu Thi Thu , Truong Le Van , Van Ta Thanh , Phuong Doan Thi Kim 
Published: November 2024

Background: Unexplained recurrent pregnancy loss (URPL) is a significant obstetric challenge affecting maternal health and well-being. Genetic factors, including mutations in the methylenetetrahydrofolate reductase (MTHFR) gene and elevated homocysteine levels, are increasingly recognized as contributors to URPL, though their precise roles remain complex. This study aimed to comprehensively explore these factors. Objectives: This study examines the links between MTHFR gene polymorphisms (C677T and A1298C), plasma homocysteine levels, and URPL. It also aims to create a predictive model for URPL based on these factors. Design: A case-control study with Vietnamese women who had at least one pregnancy between January 2017 and June 2020, recruited from Medlatec Hospital and Hanoi Medical University. Participants included URPL cases ( n = 128) and controls ( n = 126). Methods: Participants were selected based on specific criteria. Main analyses identified the optimal multivariable logistic regression model for predicting URPL using Bayesian Model Averaging, with the optimal model chosen based on the highest Area Under the Curve (AUC) and posterior probability. A nomogram for clinical risk prediction was developed based on parameters from the optimal model. Results: URPL cases exhibited significantly higher plasma homocysteine levels (11.73 ± 6.08 µmol/L) compared to controls (7.64 ± 1.78 µmol/L), correlating with increased URPL risk (OR: 1.64, 95% confidence interval (CI): 1.41–1.96; p < 0.001). The MTHFR C677T variant showed strong associations with URPL, particularly the CT genotype (OR: 6.07, 95% CI: 3.00–12.93; p < 0.001) and TT genotype (OR: 14.62, 95% CI: 2.85–114.77; p = 0.003). Similarly, the A1298C variant demonstrated elevated URPL risk with the AC genotype (OR: 2.73, 95% CI: 1.34–5.78; p = 0.007) and CC genotype (OR: 12.43, 95% CI: 3.17–64.22; p = 0.001). Conclusion: This study provides insights into the complex interplay of MTHFR gene mutations, elevated homocysteine levels, and URPL. Genetic testing and biomarker assessment may play a crucial role in customizing risk assessment and management strategies for women at risk of URPL.
ECG-based machine learning model for AF identification in patients with first ischemic stroke
Authors: Yu Chih-Chieh , Peng Yu-Qi , Lin Chen , Chiang Chia-Hsin , Liu Chih-Min , Lin Yenn-Jiang , Lin Lian-Yu , Lo Men-Tzung 
Published: November 2024

Background: The recurrence rate of strokes associated with atrial fibrillation (AF) can be substantially reduced through the administration of oral anticoagulants. However, previous studies have not demonstrated a clear benefit from the universal application of oral anticoagulants in patients with embolic stroke of undetermined source. Timely detection of AF remains a challenge in patients with stroke. Aim: This study aims to develop a convolutional neural network (CNN) model to accurately identify patients with AF using a 12-lead sinus-rhythm electrocardiogram (ECG) recorded around the time of the first ischemic stroke. In addition, this study also evaluates the model’s ability to predict future occurrence of AF. Methods: A CNN model was trained with ECG data from patients at Taipei Veterans General Hospital. External validation was performed on ischemic stroke patients from National Taiwan University Hospital. The model’s performance was assessed for detecting AF at the stroke event and predicting future AF occurrences. Results: The model demonstrated an area under curve (AUC) of 0.91 for internal validation and 0.69 for external validation in identifying AF at the stroke event, with sensitivity and negative predictive value both achieving 97%. Kaplan–Meier survival analysis of patients without a prior diagnosis of AF revealed a significant increase in future AF incidence among the high-risk group identified by the model (adjusted hazard ratio: 4.06; 95% confidence interval: 2.74-6.00). Conclusions: The CNN model effectively identifies AF in stroke patients using 12-lead ECGs and predicts future AF events, facilitating early anticoagulation therapy and potentially reducing recurrent stroke risk. Further prospective studies are warranted to confirm these findings.
Timing of endoscopy in cirrhotic patients with acute variceal bleeding: protocol of a multicenter randomized controlled trial
Authors: Qi Xingshun , Li Yiling , Li Bimin , Luo Xuefeng , Liu Xiaofeng , Zhang Chunqing , Chen Mingkai , Kong Derun , Wu Yunhai , Romeiro Fernando Gomes , Basaranoglu Metin , Zhang Jianzhong , Li Qianqian , Wang Ran , Shao Xiaodong , Guan Lin , Wang Ningning , You Yu , He Mingyan , Wang Xiaoze , Huang Ju , Wu Wenming , Li Qun , Zhang Mingyan , Wang Guangchuan , Zhang Chi , Cheng Du , Zhang Qianqian , Mei Xuechan , Sun Na , Ban Yuan , Marcondes Mariana Barros , Yamashiro Fabio da Silva , Mutlu Emine , Zheng Zheng , Peng Mengyuan , Xu Wentao , Li Zhe , Chai Lu , Linghu Enqiang 
Published: November 2024

Background: Endoscopy is important for the diagnosis and treatment of acute upper gastrointestinal bleeding (AUGIB), especially acute variceal bleeding (AVB), in liver cirrhosis. However, the optimal timing of endoscopy remains controversial, primarily because the currently available evidence is of poor quality, and the definition of early endoscopy is also very heterogeneous among studies. Herein, a multicenter randomized controlled trial (RCT) is performed to explore the impact of the timing of endoscopy on the outcomes of cirrhotic patients with AVB. Methods: A total of 368 cirrhotic patients presenting with AUGIB who are highly suspected to be from AVB will be enrolled. They will be stratified according to the severity of liver function and clinical presentation at admission and then randomly assigned at a 1:1 ratio into early (within 12 h after admission) and delayed (within 12–24 h after admission) endoscopy groups within each stratum. The primary outcomes include the rates of 5-day failure to control bleeding after admission and 6-week rebleeding. The secondary outcomes include 6-week mortality and incidence of adverse events. Conclusion: Considering existing evidence originates from non-randomized studies, this RCT will provide high-quality evidence to uncover whether cirrhotic patients with AVB should undergo early endoscopy to control bleeding and improve survival. Trial registration: ClinicalTrials.gov identifier: NCT06031402.
Appropriateness of small molecule agents for patients with IBD of childbearing age – a RAND/UCLA appropriateness panel
Authors: Selinger Christian , Laube Robyn , Limdi Jimmy K. , Headley Kate , Kent Alexandra , Kok Klaartje , Fraser Aileen , Newman Victoria , Ludlow Helen , Rees Fiona , Sagar Nidhi , Walker Erin 
Published: November 2024

Background: Many women of childbearing age with inflammatory bowel disease (IBD) require advanced therapies. While biologics are largely low risk during pregnancy, the novel small molecules tofacitinib, filgotinib, upadacitinib and ozanimod (TFUO) have shown concerning teratogenic effects, and decreased fertility in animal studies. Therefore, their use in women of childbearing age needs careful consideration. Design: RAND/University of California Los Angeles (UCLA) Appropriateness Method (RAM). Objective: To evaluate the appropriateness of TFUO in women of childbearing age. Methods: We convened a panel of six gastroenterologists, two IBD nurses, one IBD pharmacist and three expert patients. Following a literature review, 13 statements were drafted and voted upon in 2 rounds. Results: All 13 statements were deemed appropriate. The panel concluded that women with IBD of childbearing age who wish to commence therapy with TFUO, need to use effective contraception and be counselled regarding the risk in unplanned pregnancies. For women using contraception while on Janus kinase inhibitor (JAKi) therapy, we suggest the preferred use of progesterone-only or non-hormonal long-acting contraception. TFUO are contraindicated during pregnancy and breast feeding. We recommend that women receiving TFUO cease therapy in time to establish clinical remission for at least 3 months prior to conception. Therapies other than TFUO should be considered as first-line therapy in women with IBD of childbearing age, except in select individual circumstances. TFUO may be appropriate for women of childbearing age after failure of, intolerance or contraindications to one biological agent. Conclusion: TFUO should be avoided during pregnancy and breastfeeding, and alternative therapies should be considered as first-line treatments. Summary: We provide clinical practice recommendations regarding the use of TFUO for IBD in women of childbearing age.
Consumo de alcohol, tabaco y cannabis en profesionales sanitarios en España durante la fase pandémica aguda de COVID-19
Authors: Villanueva-Blasco Víctor Jose , Guillamó-Mínguez Carlos , Lozano-Polo Adelaida , Villanueva-Silvestre Verónica , Vázquez-Martínez Andrea 
Published: November 2024

Introducción: la pandemia de la COVID-19 expuso a los profesionales sanitarios a circunstancias que incrementaron su estrés, recurriendo al consumo de sustancias como estrategia de afrontamiento. Objetivos: conocer el patrón de consumo de alcohol, tabaco y cannabis en profesionales sanitarios españoles en el periodo prepandemia y durante la fase pandémica aguda (FPA), diferenciando en función de la profesión y estableciendo si hubo diferencias entre ambos periodos. Métodos: estudio descriptivo no probabilístico con muestreo por conveniencia. Participaron 630 profesionales sanitarios. Se utilizó una encuesta en línea con categorización de la profesión sanitaria, AUDIT-C para consumo de alcohol, preguntas ad hoc para tabaco, y CAST para cannabis. Se realizó análisis de frecuencia y diferencia de medias ( t de Student, Z Wilcoxon), reportando el tamaño del efecto y Phi. Resultados: el 57.1 % de los profesionales sanitarios mostró consumo de la riesgo de la alcohol antes de la FPA; disminuyendo al 42.4 % en la FPA. Entre los consumidores, la proporción de consumidores de riesgo previa a la FPA fue del 95 % en todas las profesiones sanitarias y superior al 65 % durante la FPA. Entre ambos periodos, únicamente hubo un descenso significativo en médicos/as (χ2 MN = 8.108; p < 0.004). Respecto al tabaco, el 14.1 % afirmó consumirlo, observándose un incremento significativo del consumo medio de cigarrillos entre ambos periodos ( t(80) = −3.994; p < 0,001), explicado por el incremento entre psicólogos/as ( t(42) = −3.245; p < 0.002). Respecto al cannabis, el 2.7 % afirmó haberlo consumido, presentando el 14.3 % adicción moderada y el 7.1 % dependencia. Conclusiones: durante la crisis sanitaria se produjo una reducción del consumo de alcohol, tabaco y cannabis entre profesionales sanitarios, siendo desigual por categoría profesional. Sin embargo, se detectaron incrementos del consumo y consumos de riesgo en algunos colectivos, señalándose las implicaciones para su salud y labor sanitaria. Se propone impulsar medidas de promoción de la salud mental en los centros sanitarios que incorporen estrategias de abordaje de sustancias.
Anxiety, memory, and social impairments in the YAC128 mouse model of Huntington’s disease
Authors: Marinina Ksenia S , Bezprozvanny Ilya B , Egorova Polina A 
Published: November 2024

Background Huntington’s disease (HD) is an autosomal dominant hereditary disorder, caused by an expansion of polyglutamine in the huntingtin protein. HD is characterized by a progressive decline in motor functions. This decline includes involuntary movements (chorea) and the worsening of controlled motions caused mainly by neuronal dysfunction in the striatum. In addition to the deterioration of motor symptoms, HD patients also suffer from cognitive changes, mood swings, apathy, depression, outbursts of anger, psychosis, and social withdrawal. Objective A comprehensive examination of cognitive, affective, and social changes in the HD mouse model is required for the development of combined therapy for both motor and non-motor deficits in HD. Methods The behavioral tests for anxiety, memory, and social traits were used in this study. Results YAC128 HD transgenic mice exhibited anxiolytic behavior in the novel brightly illuminated environment of the open field and light-dark place preference tests. Moreover, YAC128 HD mice also suffered from a decline in their recognition memory during the novel object recognition test. YAC128 HD mice demonstrated reduced exploration interest during the open field with a non-social target as well as during the first day of the three-chamber social test. Social interaction was also impaired in YAC128 HD mice as it was shown in the social interaction with resident intruder test. Conclusions YAC128 HD mouse model may be used as a model system to test the possible treatments for both motor and non-motor symptoms including memory loss, agitation and social withdrawal.