bluuebunny/crossref_metadata_2025_split huggingface dataset:
Experiences of Parents and Solid Organ-transplanted Adolescents: A Qualitative Framework Analysis through Focus Groups. The TransplantKIDS Mental Health Project
Authors: Garrido-Bolton Jessica , de la Vega Rocío , Bravo-Ortiz María Fe , Fernández-Jiménez Eduardo 
Published: October 2024

AbstractBackgroundSolid organ transplantation is the optimal treatment for children and adolescents with end-stage organ failure. However, the biopsychosocial challenges faced jointly by the various types of solid organ recipients have received little attention from a multidimensional and qualitative approach in paediatric populations. This is the first study based on focus groups to identify the unmet care needs perceived by transplanted adolescents and parents throughout the pre-, peri-, and post-surgical phases of various types of solid organ transplantation.MethodsTwo focus groups were conducted with five adolescent transplant recipients and five parents, respectively, at the Children’s Hospital of La Paz University Hospital in Spain. The focus groups followed a biopsychosocial theoretical framework and used a semi-structured moderating guide. Participants were asked open-ended questions about aspects of healthcare that they would have liked to change or improve, followed by specific questions about biomedical, psychological, and social aspects that were not spontaneously addressed. The sessions were conducted using a video call, audio-recorded, and automatically transcribed. Thematic framework analysis was used to examine the data, involving familiarisation, identifying a thematic framework, indexing, charting, mapping, and interpretating.ResultsThe findings revealed several unmet care needs, highlighting the importance of addressing social and psychological aspects of care throughout the transplantation process. Key issues common to both informant groups were inconveniences regarding the distance to the hospital and long waiting times for outpatient hospital visits, as well as the importance of peer support, humanised interaction with healthcare personnel, and mental health care during the whole process.ConclusionsThese findings will inform the design of future multifaceted prehabilitation interventions to prepare patients and parents for solid organ transplantation. This study highlights the importance of understanding the experiences and unmet needs of adolescent transplant recipients and their families in order to improve healthcare delivery and clinical outcomes.
Patient satisfaction: Insights from the regional referral hospitals in Bhutan
Authors: Dorji Kuenzang , Jamphel Kinga , Kelzang Jigme , Pelmo Ugyen , Nepal Hem Kumar , Zangpo Sonam , Wangdi Sonam , Galey Karma 
Published: October 2024

AbstractPatient satisfaction is crucial for evaluating healthcare quality and guiding continuous quality improvement. Globally, patient satisfaction has been extensively studied; however, there is limited research on this topic in Bhutan, where the healthcare system is in the early stages of developing a quality-oriented culture. To address this gap, we aimed to evaluate patient satisfaction levels among different socio-demographic and clinical groups and identify the predictors of patient satisfaction in Bhutan.We retrospectively analysed archived patient satisfaction data from two tertiary healthcare centres in Bhutan: Mongar Eastern Regional Referral Hospital and Gelephu Central Regional Referral Hospital. The routine survey was conducted throughout April 2024 using a modified version of the Patient Satisfaction Questionnaire 18. The data were analysed using descriptive statistics, one-way ANOVA, and binary logistic regression.Our study revealed significant variations in patient satisfaction across socio-demographic and clinical groups. Ethnicity, occupation, and education level emerged as significant predictors of satisfaction. Sharchop and other ethnic groups; farmers, religious personnel, and other occupational groups; and illiterate individuals exhibited significantly higher satisfaction levels. While patient type, age, and marital status influenced satisfaction levels, they did not emerge as significant predictors when considering other variables. Overall, patient satisfaction in Bhutan was high, particularly in the financial domain; however, accessibility and convenience scored the lowest.Our findings underscore the importance of addressing socio-demographic disparities in patient satisfaction. With anticipated changes in the socio-demographic characteristics of the Bhutanese population, satisfaction levels may decline. Therefore, healthcare policy and decision-makers should implement targeted interventions to address these shifts. To enhance overall satisfaction, healthcare policymakers should focus on improving accessibility and convenience. Strategies such as establishing dynamic limits on free services, exploring private sector engagement in high-end services, and strengthening the healthcare workforce are essential for sustainable and quality healthcare service delivery.
Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam
Authors: Matusin Siti Nur Idayu , Mumin Nuramalina , Zainal Abidin Hazirah , Mohd Jaya Fatin Nurizzati , Lu Zen Huat , Haji Abdul Hamid Mas Rina Wati 
Published: October 2024

This is the first genetic study of its kind in Brunei Darussalam. BRCA1 and BRCA2 genes are the most well-known and well described predictors of hereditary breast cancer due to their clinical importance. This study aimed to identify the prevalence and mutation spectrum of the BRCA1 and BRCA2 germline mutations among 120 unselected series of Brunei breast cancer patients. We screened the entire coding region of BRCA1 and BRCA2 gene using Sanger sequencing and next-generation sequencing methods, and identified three pathogenic and one likely pathogenic mutations in the BRCA2 gene. Of the 120 patients, 6 (5%) were BRCA2 carriers which confirm that BRCA2 carriers are more common in the Asian population compared to the Caucasian population. One BRCA2 mutation observed only in the Chinese ethnicity of the Brunei breast cancer population contributes to the probability of the mutation being a founder effect in the Southern Chinese population. Brunei BRCA2 carriers were more likely to have a positive family history of breast and/or ovarian cancers and have more than one family members in the first-degree relatives diagnosed with breast cancer.
Estimating the dietary and health impact of implementing mandatory front-of-package nutrient disclosures in the US: a policy scenario modeling analysis
Authors: Flexner Nadia , Zaltz Daniel , Greenthal Eva , Musicus Aviva A. , Ahmed Mavra , L’Abbe Mary R. 
Published: October 2024

AbstractBackgroundRecognized as a cost-effective policy to promote healthier diets, mandatory front-of-package labeling (FOPL) identifying foods high in sodium, sugar, and saturated fat has been adopted and implemented in ten countries, and is currently under consideration in several others including the US. However, its potential impact on dietary intake and health have not yet been estimated in the US context.ObjectivesTo estimate (1) the potential dietary impact of implementing mandatory nutrient-specific FOPL among US adults; and (2) the number of diet related non-communicable disease (NCD) deaths that could be averted or delayed due to estimated dietary changes.MethodsBaseline and counterfactual dietary intakes of sodium, sugars, saturated fats, and calories were estimated among US adults (n=7,572) using both available days of 24h recall data from the 2017-2020 National Health and Nutrition Examination Survey (NHANES). The National Cancer Institute method was used to estimate usual intakes and distributions, adjusting for age, sex, misreporting status, weekend/weekday, and sequence of recall. To estimate counterfactual dietary intakes, we modeled reductions observed in experimental and observational studies that examined changes in sodium, sugars, saturated fat and calorie content of food and beverage purchases due to nutrient-specific ‘high in’ FOPL. This study used the Preventable Risk Integrated ModEl (PRIME) to estimate potential health impact.ResultsEstimated mean dietary reductions of 156 mg and 259 mg/day of sodium, 10.1 g and 7.2 g/day of sugars, 1.08 g and 4.49 g/day of saturated fats, and 38 kcal and 57 kcal/day of calories were observed under the two policy scenarios tested. Between 96,926 (95% UI 89,011-105,284) and 137,261 (95% UI 125,534-148,719) diet related NCD deaths, primarily from cardiovascular diseases (74%), could potentially be averted or delayed by implementing mandatory nutrient-specific FOPL in the US. Overall, more lives would be saved in males than females.ConclusionsFindings suggest that implementing mandatory nutrient-specific FOPL in the US could significantly reduce sodium and total sugar intakes among US adults, resulting in a substantial number of NCD related deaths that could be averted or delayed. Our results can inform current food policy developments in the US regarding adoption and implementation of FOPL regulations.
Barriers to cataract surgeries as perceived by visually disabled 50 years and older cataract blind participants of Nepal survey for Rapid Assessment of Avoidable Blindness
Authors: Shah Ranjan , Mishra Sailesh Kumar , Khandekar Rajiv , Gogate Parikshit , Sapkota Yuddha Dhoj , Gurung Reeta , Shrestha Mohan Krishna , Mactaggart Islay , McCormick Ian , Shahi Brish Bahadur , Burton Matthew 
Published: October 2024

ABSTRACTPurposeTo identify the main barriers and determinants to cataract surgery as perceived by 50 years and older Nepali people with severe visual impairment & blind due to cataracts.MethodsThis was part of the Rapid Assessment for Avoidable Blindness (RAAB), held in all provinces of Nepal from 2018 to 2021. Cataract blindness was defined as a person having the best-corrected vision, <6/60 in the better eye, and an unoperated cataract, which was the principal cause of visual disability. The participants were interviewed using a pretested questionnaire with seven known barriers. The demographic information was correlated with the barrier score.ResultsWe surveyed 718 cataract blinds. Two-thirds of the participants were females. Four in ten were aged 50 to 59 years. The main barriers perceived were ’need is not felt’ (237; 33%), cost associated with surgery (218; 30%), lack of access (93; 13%), fear of surgery (88; 12%), nobody to accompany (40; 6%), unaware of surgery (18; 3%), and treatment denied (24; 3%). The barriers were not significantly different in females than in males. (P = 0.85). The provincial variations of barriers were significant. (P <0.001). High cost was a perceived barrier in all provinces except Gandaki. Access to treatment was a barrier in the Gandaki province (38%). One in four participants in the Madhesh and Bagmati provinces feared surgery. Nearly half of the cataract blind in the Madhesh and Lumbini province did not feel ‘need for restoring vision’.ConclusionsTo improve cataract surgery uptake, identified barriers, like lack of awareness, low visual need, and high cost must be addressed. The strategies could be devised according to provincial barriers but similar to both genders and all 50 years and older cataract blind. Offering low-cost cataract surgery, financial assistance and health promotion to improve awareness and remove fear were recommended.
Knowledge and Willingness towards Human Papillomavirus Vaccination among the Parents and School Teachers of Eligible Girls in Dhaka, Bangladesh: A School-Based Cross-Sectional Study
Authors: Sultana Samina , Nishan MD Nahid Hassan , Akter Aklima , Rahman Dalia , Yesmin Fowzia , Hawlader Mohammad Delwer Hossain 
Published: October 2024

AbstractsBackgroundCervical cancer ranks as the common prevalent cancer, among women worldwide especially impacting low-resource countries. In Bangladesh, this accounts for 12% of all cancer cases. The development of cancer is closely linked to Human Papillomavirus (HPV) infection. Despite the availability of HPV vaccines, their uptake remains limited in Bangladesh. Thus, this research aims to assess the knowledge and willingness of parents and school teachers regarding HPV vaccination for eligible girls in Bangladesh.MethodologyThis study involved 406 parents and school teachers of girls aged 9-14 years from Dhaka city. A cross-sectional study design was used. Data collection was done through a questionnaire administered by interviewers after pre-testing and refinement for clarity and reliability. Analysis was carried out using Stata 17 software. Chi-square tests and logistic regression were used to uncover associations and predictors related to knowledge levels and willingness.ResultsFindings revealed that a majority of participants (64.04%) exhibited an understanding of HPV and cervical cancer yet a high percentage (98.28%) expressed willingness to engage in HPV vaccination initiatives. participants with primary (AOR=3.306, p<0.005), secondary (AOR=8.806, p<0.001), and higher education (AOR=5.059, p<0.001), as well as those from upper-middle-income groups (AOR=3.038, p<0.001), had significantly higher knowledge of HPV and cervical cancer.ConclusionThe research emphasizes lack of knowledge regarding HPV and its vaccination among parents and educators in Bangladesh despite a willingness to vaccinate. These results emphasize the importance of tailored initiatives and better access, to health information to increase HPV vaccine acceptance and lower the incidence of cervical cancer.
Geometric Deep Learning Methods for Improved Generalizability in Medical Computer Vision: Hyperbolic Convolutional Neural Networks in Multi-Modality Neuroimaging
Authors: Ayubcha Cyrus , Sajed Sulaiman , Omara Chady , Veldman Anna B. , Singh Shashi Bhushan , Lokesha Yashas Ullas , Liu Alex , Aziz-Sultan Mohammad Ali , Smith Timothy R. , Beam Andrew 
Published: October 2024

AbstractObjectiveThis study investigates the potential advantages of hyperbolic convolutional neural networks (HCNNs) over traditional convolutional neural networks (CNNs) in neuroimaging tasks.Materials and MethodsWe conducted a comparative analysis of HCNNs and CNNs across various medical imaging modalities and diseases, with a focus on a compiled multi-modality neuroimaging dataset. The models were assessed for performance parity, robustness to adversarial attacks, semantic organization of embedding spaces, and generalizability. Zero-shot evaluations were also performed with ischemic stroke non-contrast CT images.ResultsHCNNs matched CNN performance on less complex settings and demonstrated superior semantic organization, and robustness to adversarial attacks. While HCNNs equaled CNNs in out-of-sample datasets identifying Alzheimer’s disease, in zero-shot evaluations, HCNNs outperformed CNNs and radiologists.DiscussionHCNNs deliver enhanced robustness and organization in the neuroimaging data. This likely underlies why while HCNNs perform similarly to CNNs with respect to in-sample tasks, they confer improved generalizability. Nevertheless, HCNNs encounter efficiency and performance challenges with larger, complex datasets. These limitations underline the need for further optimization of HCNN architectures.ConclusionHCNNs present promising improvements in generalizability and resilience for medical imaging applications, particularly in neuroimaging. Despite challenges with larger datasets, HCNNs enhance performance under adversarial conditions and offer better semantic organization, suggesting valuable potential in generalizable deep learning models in medical imaging and neuroimaging diagnostics.
Chronic fatigue syndrome, depression, and anxiety symptoms due to relapsing-remitting multiple sclerosis are associated with reactivation of Epstein-Barr virus and Human Herpesvirus 6
Authors: Maes Michael , Almulla Abbas F. , Vojdani Elroy , Dzhambazova Elizabet , Stoyanov Drozdstoj , Zhang Yingqian , Vojdani Aristo 
Published: October 2024

AbstractRelapsing-remitting multiple sclerosis (RRMS) is defined by elevated IgG/IgA/IgM responses targeting Epstein-Barr Virus (EBV) nuclear antigen 1 (EBNA) and deoxyuridine-triphosphatases (dUTPases) of Human herpsesvirus-6 (HHV-6) and EBV. These responses suggest that the viruses are being replicated and reactivated. An increased prevalence of chronic fatigue syndrome, depression, and anxiety is associated with signs of immune activation in RRMS. Nevertheless, there is a lack of data regarding the association between viral reactivation and neuropsychiatric symptoms of RRMS. This study investigated the IgG/IgA/IgM responses to EBNA, and EBV and HHV-6-dUTPases, in 58 remitted RRMS patients and 63 normal controls. The McDonald criteria were employed to establish the diagnosis of MS. The Expanded Disability Status Scale (EDSS) and the Multiple Sclerosis Severity Score were employed to evaluate disabilities caused by RRMS. We evaluated the scores of the Hamilton Depression (HAMD) and Anxiety (HAMA) Rating Scales, and Fibro-Fatigue (FF) scale. One latent construct was extracted from the EDSS, MSSS, FF, HAMD, and HAMA scores. We discovered that the combined effects of IgG and IgM-HHV-6-dUTPAses accounted for 63.7% of the variance in this construct. Furthermore, the total FF, HAMA, and HAMD scores were substantially associated with the IgG and IgM-HHV-6-dUTPAses, accounting for approximately 38.7% to 51.0% of the variance. The three neuropsychiatric rating scale scores were also significantly correlated with IgA reactivity directed to both dUTPases and IgG/IgA/IgM to EBNA. In conclusion, the reactivation and replication of HHV-6 and EBV significantly contributes to chronic fatigue syndrome, as well as symptoms of depression and anxiety due to RRMS.
Beyond Traditional Assessments of Cognitive Impairment: Exploring the Potential of Spatial Navigation Tasks
Authors: Colombo Giorgio , Minta Karolina , Thrash Tyler , Grübel Jascha , Wiener Jan , Avraamides Marios , Hölscher Christoph , Schinazi Victor R. 
Published: October 2024

AbstractINTRODUCTIONAlzheimer’s disease affects spatial abilities that are often overlooked in standard cognitive screening tools. We assessed whether the spatial navigation tasks in the Spatial Performance Assessment for Cognitive Evaluation (SPACE) can complement existing tools such as the Montreal Cognitive Assessment (MoCA).METHODS348 participants aged 21-76 completed the MoCA, SPACE, and sociodemographic- health questionnaires. Regressions were used to predict MoCA scores with risk factors and SPACE tasks as predictors. We also conducted a factor analysis to investigate the relationships among SPACE tasks and the MoCA.RESULTSRegressions revealed significant effects of age, gender, and SPACE tasks. No risk factors for dementia predicted MoCA scores. The factor analysis revealed that MoCA and perspective taking contributed to a separate factor from other navigation tasks in SPACE. Normative data for SPACE are provided.DISCUSSIONOur findings highlight the importance of navigation tasks for cognitive assessment and the early detection of cognitive impairment.
Curative levels of endogenous gene replacement achieved in non-human primate liver using programmable genomic integration
Authors: Xie Jenny , Dunyak Maike Thamsen , Hanna Patrick , Nan Angela X. , Estes Brett , Cochrane Jesse C. , Wu Shuai , Wang Jie , McGinnis Connor , Wang Qiang , Pokharel Rejina , Paudel Dev , Zhang Jason , Li Dan , Amin Parth , Narayan Siddharth , Hsia Angela , Hazelbaker Dane Z. , Shi Xiarong , Packer Meredith , Duke Brian , Dickerson Ryan , Piard Charlotte , Meagher Martin , Gatlin Jason , Svenson Sonke , Monsef Adrianne , Bourdeau Raymond W. , Lam Kieu , Reid Steve , Kazemian Mohammad , Chander Nisher , Holland Richard , Heyes James , Mukherjee Swati , Kumar Sandeep , O’Connell Daniel J. , Finn Jonathan D. 
Published: October 2024

AbstractThe ability to efficiently place a large piece of DNA in a specific genomic location has been a goal for the gene therapy field since its inception; however, despite significant advances in gene editing technology, this had yet to be achieved. Here we describe two methods of programmable genomic integration (PGI) that overcome some of the limitations of current approaches. Using a combination of clinically validated delivery technologies (LNP, AAV), we demonstrate the ability to specifically integrate large (>2 kb) DNA sequences into endogenous introns in the liver of non-human primates (NHP). PGI was effective across multiple genomic locations and transgenes, and insertion led to expression from the endogenous promoter. PGI was highly efficient, achieving expression in >50% of liver cells after a single course of treatment, which would be curative for most monogenic recessive liver diseases. This is the first report of clinically curative level of gene insertion at endogenous loci in NHP.
Deciphering RNA regulation with a foundation language model
Authors: Zhou Hanwen , Hu Yue , Zheng Yulong , Li Jiefu , Peng Jielong , Zhang Guoqing , Wang Zefeng 
Published: October 2024

AbstractRNAs are widely regulated in cellular processes by theircis-regulatory elements andtrans-acting RNA binding proteins, the information of which is encoded in RNA sequences spanning evolutionary diversity. Deciphering the rules underlying RNA regulation can provide new insights into molecular mechanisms and RNA therapies. The large language models have demonstrated their efficacy in the analysis of human languages and protein sequences. Considering the similarities in semantic and syntactic features between RNA sequences and human language, we developed LAMAR, a foundationlanguagemodel for RNAregulation, aimed at capturing the intrinsic characteristics of RNA sequences. The model was first pretrained on approximately 15 million sequences of genes and transcripts from 225 mammals and 1569 viruses. By leveraging LAMAR as a foundational platform, we fine-tuned the pretrained model with labeled datasets across various tasks. The resulting fine-tuned model outperformed the best benchmark by up to 9% for predicting mRNA translation efficiency, and improved by 7% for predicting the RNA half-life. We further applied LAMAR to predict the splice sites of pre-mRNAs and internal ribosome entry sites driving cap-independent translation, the performances of which were comparable with the state-of-the-art methods. The results indicated that our foundation language model is applicable for comprehensive regulatory analysis of RNA, providing new clues into molecular cell biology and disease.The code is available athttps://github.com/rnasys/LAMAR.