bluuebunny/crossref_metadata_2025_split huggingface dataset:
Public attitudes towards personal health data sharing in long-term epidemiological research: a Citizen Science approach in the KORA study
Authors: Rückert-Eheberg Ina-Maria , Heier Margit , Simon Markus , Kraus Monika , Peters Annette , Linkohr Birgit 
Published: August 2024

Abstract
Background
Loss to follow-up in long-term epidemiological studies is well-known and often substantial. Consequently, there is a risk of bias to the results. The motivation to take part in an epidemiological study can change over time, but the ways to minimize loss to follow-up are not well studied. The Citizen Science approach offers researchers to engage in direct discussions with study participants and to integrate their opinions and requirements into cohort management.

Methods
Guided group discussions were conducted with study participants from the KORA cohort in the Augsburg Region in Germany, established 40 years ago, as well as a group of independently selected citizens. The aim was to look at the relevant aspects of health studies with a focus on long-term participation. A two-sided questionnaire was developed subsequently in a co-creation process and presented to 500 KORA participants and 2,400 employees of the research facility Helmholtz Munich.

Results
The discussions revealed that altruistic motivations, (i.e. supporting research and public health), personal benefits (i.e. a health check-up during a study examination), data protection, and information about research results in layman’s terms were crucial to ensure interest and long-term study participation. The results of the questionnaire confirmed these aspects and showed that exclusively digital information channels may be an obstacle for older and less educated people. Thus, paper-based media such as newsletters are still important.

Conclusions
The findings shed light on cohort management and long-term engagement with study participants. A long-term health study needs to benefit public and individual health; the institution needs to be trustworthy; and the results and their impact need to be disseminated in widely understandable terms and by the right means of communication back to the participants.
Health care needs and barriers to care among the transgender population: a study from western Rajasthan
Authors: Ahuja Tanvi Kaur , Goel Akhil Dhanesh , Gupta Manoj Kumar , Joshi Nitin , Choudhary Annu , Suman Swati , Taluja Kajal , Mittal Madhukar , Ghuman Navdeep Kaur , Suthar Navratan , Bhardwaj Pankaj 
Published: August 2024

Abstract
Background
Transgender people comprise an estimated 0.3–0.5% (25 million) of the global population. The public health agenda focuses on understanding and improving the health and well-being of gender minorities. Transgender (TG) persons often have complex healthcare needs and suffer significant health disparities in multiple arenas. The international literature suggests that this community is at a higher risk of depression, and other mental health problems, including HIV. Many transgender people experience gender dysphoria and seek specific medical needs such as sex reassignment surgeries, implants, hormonal therapies, etc., but are unable to access these services due to financial or social reasons. The objective of this study was to assess the healthcare needs and associated barriers experienced by transgender people in Western Rajasthan. Methodology: A qualitative study was carried out in which multilevel stakeholder interviews were conducted using interview and focus group discussion guides. Data was analyzed using the qualitative thematic analysis technique. Results: Findings reveal that transgender people have expressed their need to access health services for general health needs, including but not limited to mental health, non-communicable diseases, and infectious diseases. Barriers to healthcare services were identified on 3 levels: health system, social and personal. Health system barriers include policy, accessibility, affordability, and acceptability issues. Social factors such as inadequate housing, education, and job opportunities also play an important role in affecting the individual’s health-seeking behavior. The knowledge of healthcare providers in this context was also limited in context of health insurance schemes, package of services available for transgenders and the importance of gender sensitive healthcare. Conclusion: Transgender people expressed the need for mental health services, programs targeting nutritional improvement, gender-affirmation procedures besides regular screening of non-communicable diseases as operational for males and females. Levels of barriers have been identified at various levels ranging from absence of targeted policies to individual behavior.
Parent and healthcare professional experiences of critical congenital heart disease in New Zealand to advance health equity
Authors: Watkins Simone , Ward Kim , Brown Rachel , Crengle Sue , WM de Laat Monique , Percival Teuila , Sadler Lynn , Cloete Elza , Gorinski Ruth , Gentles Thomas , Bloomfield Frank H. 
Published: August 2024

Abstract
Background
Higher odds of survival have been reported in European infants compared to Indigenous Māori and Pasifika infants with critical congenital heart disease in New Zealand. We therefore aimed to understand how to mitigate this disparity by investigating the parent and healthcare professional experiences’ of critical congenital heart disease healthcare in New Zealand.

Methods
A prospective qualitative study utilising semi-structured interviews was conducted on a cohort of purposefully sampled parents and health professionals with experience of critical congenital heart disease healthcare in New Zealand. Parents were recruited after a fetal critical congenital heart disease diagnosis and offered two interviews at least three months apart, whilst multidisciplinary fetal and cardiosurgical health professionals were interviewed once. Interviews were recorded and transcribed verbatim before coding, categorization and qualitative analysis.

Results
During 2022 and 2023, 45 people participated in 57 interviews (25 parents: 19 mothers, 6 fathers; Indigenous Māori, n = 5; Pasifika, n = 6; Asian, n = 4; European, n = 10; and 20 healthcare professionals: European n = 17). The three lessons learned from participants were: (1) Minoritized groups experience disparate healthcare quality; (2) healthcare systems are under-resourced to provide equitable support for the differential needs of grieving parents; and (3) healthcare systems could engage minoritized families more optimally in shared decision-making.

Conclusions
According to the experiences of parents and healthcare professionals, persisting inequities in CCHD healthcare quality occur by ethnic group, with the New Zealand healthcare system privileging European families. The concepts from this study could be translated by healthcare leaders, policymakers, and professionals into evidence-based healthcare system improvements to enhance experiences for non-European families more broadly.
Identification of mothers with mental health problems is accidental: perceptions of health care providers on availability, access, and support for maternal mental health care for adolescent mothers in Malawi
Authors: Tembo Chimwemwe , Portsmouth Linda , Burns Sharyn 
Published: August 2024

Abstract
Background
Integration of maternal mental health into primary health care is considered a strategy to improve access to mental health support in low- and middle-income countries (LMICs). Health care workers’ (HCWs) and traditional practitioners’ (traditional healers, herbalists, traditional birth attendants, spiritual healers, prophets, and community health volunteers) perceptions of the availability and management of adolescent mothers’ maternal mental health care were explored in rural Malawi. Recognizing and identifying the barriers associated with access to maternal mental health support is essential to improving the mental health of adolescent mothers.

Methods
A descriptive qualitative design (DQ) was used to explore HCWs’ and traditional practitioners’ perceptions of maternal mental health services for adolescent mothers. In-depth interviews were conducted with HCWs (n = 6), and three focus group discussions were conducted with 30 community-based traditional practitioners. Participants were purposefully recruited because they provide formal or informal health services to adolescent mothers during the postnatal period at Mitundu Rural Hospital and its catchment area in Lilongwe District, in Malawi. Interviews were analyzed using reflective thematic analysis and inductive thinking.

Results
Thematic analysis found four themes to describe access to maternal mental health care for adolescent mothers. Participant perceptions were themed around health system challenges and how cultural background and beliefs influence access to mental health care and support. The themes were: (1) Inadequate staff development; (2) Limited resources (medication and infrastructure); (3) Limited policy and guidelines implementation; and (4) Cultural background and belief influence on help-seeking. HCWs suggested improving pre-service and in-service training to improve mental health assessment of mothers, while traditional practitioners wanted to increase their awareness of mental health issues.

Conclusion
Participants emphasized that multifaceted factors influenced access to mental health support. These factors affect the assessment, treatment, and support of adolescent mothers and help-seeking by mothers. Therefore, strengthening the healthcare system and empowering providers with the knowledge and skills to recognize at-risk mothers and provide timely support is essential.
Inter-laboratory comparison of eleven quantitative or digital PCR assays for detection of proviral bovine leukemia virus in blood samples
Authors: Pluta Aneta , Jaworski Juan Pablo , Droscha Casey , VanderWeele Sophie , Taxis Tasia M. , Valas Stephen , Brnić Dragan , Jungić Andreja , Ruano María José , Sánchez Azucena , Murakami Kenji , Nakamura Kurumi , Puentes Rodrigo , De Brun MLaureana , Ruiz Vanesa , Gómez Marla Eliana Ladera , Lendez Pamela , Dolcini Guillermina , Camargos Marcelo Fernandes , Fonseca Antônio , Barua Subarna , Wang Chengming , Giza Aleksandra , Kuźmak Jacek 
Published: August 2024

AbstractBovine leukemia virus (BLV) is the etiological agent of enzootic bovine leukosis and causes a persistent infection that can leave cattle with no symptoms. Many countries have been able to successfully eradicate BLV through improved detection and management methods. However, with the increasing novel molecular detection methods there have been few efforts to standardize these results at global scale. This study aimed to determine the interlaboratory accuracy and agreement of 11 molecular tests in detecting BLV. Each qPCR/ddPCR method varied by target gene, primer design, DNA input and chemistries. DNA samples were extracted from blood of BLV-seropositive cattle and lyophilized to grant a better preservation during shipping to all participants around the globe. Twenty nine out of 44 samples were correctly identified by the 11 labs and all methods exhibited a diagnostic sensitivity between 74 and 100%. Agreement amongst different assays was linked to BLV copy numbers present in samples and the characteristics of each assay (i.e., BLV target sequence). Finally, the mean correlation value for all assays was within the range of strong correlation. This study highlights the importance of continuous need for standardization and harmonization amongst assays and the different participants. The results underscore the need of an international calibrator to estimate the efficiency (standard curve) of the different assays and improve quantitation accuracy. Additionally, this will inform future participants about the variability associated with emerging chemistries, methods, and technologies used to study BLV. Altogether, by improving tests performance worldwide it will positively aid in the eradication efforts.
The diagnostic performance of CA-125 for the detection of ovarian cancer in women from different ethnic groups: a cohort study of English primary care data
Authors: Barlow Melissa , Down Liz , Mounce Luke T. A. , Funston Garth , Merriel Samuel W. D. , Watson Jessica , Abel Gary , Kirkland Lucy , Martins Tanimola , Bailey Sarah E. R. 
Published: August 2024

Abstract
Background
CA-125 testing is a recommended first line investigation for women presenting with possible symptoms of ovarian cancer in English primary care, to help determine whether further investigation for ovarian cancer is needed. It is currently not known how well the CA-125 test performs in ovarian cancer detection for patients from different ethnic groups.

Methods
A retrospective cohort study utilising English primary care data linked to the national cancer registry was undertaken. Women aged ≥ 40 years with a CA-125 test between 2010 and 2017 were included. Logistic regression predicted one-year ovarian cancer incidence by ethnicity, adjusting for age, deprivation status, and comorbidity score. The estimated incidence of ovarian cancer by CA-125 level was modelled for each ethnic group using restricted cubic splines.

Results
The diagnostic performance of CA-125 differed for women from different ethnicities. In an unadjusted analysis, predicted CA-125 levels for Asian and Black women were higher than White women at corresponding probabilities of ovarian cancer. The higher PPVs for White women compared to Asian or Black women were eliminated by inclusion of covariates.

Conclusion
The introduction of ethnicity-specific thresholds may increase the specificity and PPVs of CA-125 in ovarian cancer detection at the expense of sensitivity, particularly for Asian and Black women. As such, we cannot recommend the use of ethnicity-specific thresholds for CA-125.
Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature
Authors: Picciolli Irene , Ratti Angelo , Rinaldi Berardo , Baban Anwar , Iascone Maria , Francescato Gaia , Cappelleri Alessia , Magliozzi Monia , Novelli Antonio , Parlapiano Giovanni , Colli Anna Maria , Persico Nicola , Carugo Stefano , Mosca Fabio , Bedeschi Maria Francesca 
Published: August 2024

Abstract
Background
Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with variable penetrance and expressivity. Biallelic NEXN variants are rare in humans and associated with poor prognosis: fetal and perinatal death or severe DCMs in infants.

Case presentation
We describe two male infants with prenatal diagnosis of dilated cardiomyopathy with impaired ventricular contractility. One of the patients showed hydrops and polyhydramnios. Postnatally, a DCM with severely reduced systolic function was confirmed and required medical treatment. In patient 1, Whole Exome Sequencing (WES) revealed a homozygous NEXN variant: c.1156dup (p.Met386fs) while in patient 2 a custom Next Generation Sequencing (NGS) panel revealed the homozygous NEXN variant c.1579_1584delp. (Glu527_Glu528del). These NEXN variants have not been previously described. Unlike the unfavorable prognosis described for biallelic NEXN variants, we observed in both our patients a favorable clinical course over time.

Conclusion
This report might help to broaden the present knowledge regarding NEXN biallelic variants and their clinical expression. It might be worthy to consider the inclusion of the NEXN gene sequencing in the investigation of pediatric patients with DCM.
Health information literacy among children with spinal muscular atrophy and their caregivers
Authors: Zhang Weiran , Feng Yijie , Yan Yue , Yao Mei , Gao Feng , Lin Wei , Mao Shanshan 
Published: August 2024

Abstract
Background
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease that leads to multiple organ dysfunction. The advent of disease-modifying treatments makes the early diagnosis of SMA critical. Health information literacy is vital for obtaining, understanding, screening, and using health information. Considering the importance of early diagnosis and the challenges in obtaining accurate information on patients with SMA, this cross-sectional study assessed health information literacy among children with SMA and their caregivers in China.

Methods
Interviews with the caregivers of 10 patients with SMA were conducted by neurologists specializing in SMA. A questionnaire for evaluating the level of health information literacy was further developed among 145 children with SMA aged 10.0–120.0 months, with the average age of 81.9 months, and their caregivers. Parameters, such as the age at the onset of the first symptom and time from recognition of the first symptom to diagnosis, were examined. Health information literacy was measured using four dimensions: cognition, search, evaluation, and application.

Results
The average time from the first symptom to first medical consultation was 4.8 months, and that from the first symptom to diagnosis was 10.8 months. There is a significant delay from the onset of the initial symptoms to a definitive diagnosis. Thirty-five (24%) patients had poor while 26 (18%) had high health information literacy. The overall score for health information literacy was 69; the scores for health information cognition and application were 90 and 84, respectively. The scores for evaluation (61) and search (57) were low. Medical personnel were considered the most professional and credible sources of information. Additionally, search engines and patient organizations were the other two most important sources of health literacy.

Conclusion
Patients with SMA and their caregivers had low levels of health information literacy. SMA information visibility and standardization need to be improved. Medical personnel with experience in the diagnosis and treatment of SMA and media should aim to share knowledge and increase the quality of life of those with SMA.
Clinical characteristics and long-term outcome of CASPR2 antibody-associated autoimmune encephalitis in children
Authors: Liao Donglei , Zhu Saying , Yang Lifen , Zhang Ciliu , He Fang , Yin Fei , Peng Jing 
Published: August 2024

Abstract
Background
Contactin-associated protein-2(CASPR2) antibody-associated autoimmune encephalitis(AE) is rare in children. This study aimed to report the clinical characteristics and long-term outcome of CASPR2 autoimmunity in children to expand the disease spectrum.

Methods
Children who were hospitalized in our hospital with clinically suspected AE from May 2015 to April 2022 and underwent neuronal surface antibodies detections were retrospectively analyzed. Clinical data of patients with CASPR2 autoimmunity were collected.

Results
Patients who were positive for NMDAR-IgG, CASPR2-IgG, LGI1-IgG and IgLON5-IgG occupied 95.2%(119/125),3.2%(4/125),0.8%(1/125) and 0.8%(1/125), respectively.The median onset age of the 4 patients with CASPR2-IgG was 5.6 years. The most common symptoms were psychiatric symptoms/abnormal behavior(3/4) and sleep dysfunction(3/4). One patient developed a phenotype of Rasmussen encephalitis(RE). Tumor was absent in our patients. Two patients showed abnormal findings on initial brain magnetic resonance imaging(MRI) scans. All the patients showed favorable response to immunotherapy except the patient with RE experienced recurrent symptoms who finally achieved remission after surgery. All the patients had a favorable long-term outcome at the last follow-up(33-58months).

Conclusions
CASPR2 autoimmunity may be the second most common anti-neuronal surface antibodies associated neurological disease in children. Psychiatric symptoms/abnormal behavior and sleep disorder were common in children with CASPR2-associated AE. Tumor was rare in those patients. Most pediatric patients had a favorable long-term outcome.
Different radiomics annotation methods comparison in rectal cancer characterisation and prognosis prediction: a two-centre study
Authors: Zhu Ying , Wei Yaru , Chen Zhongwei , Li Xiang , Zhang Shiwei , Wen Caiyun , Cao Guoquan , Zhou Jiejie , Wang Meihao 
Published: August 2024

Abstract
Objectives
To explore the performance differences of multiple annotations in radiomics analysis and provide a reference for tumour annotation in large-scale medical image analysis.

Methods
A total of 342 patients from two centres who underwent radical resection for rectal cancer were retrospectively studied and divided into training, internal validation, and external validation cohorts. Three predictive tasks of tumour T-stage (pT), lymph node metastasis (pLNM), and disease-free survival (pDFS) were performed. Twelve radiomics models were constructed using Lasso-Logistic or Lasso-Cox to evaluate and four annotation methods, 2D detailed annotation along tumour boundaries (2D), 3D detailed annotation along tumour boundaries (3D), 2D bounding box (2DBB), and 3D bounding box (3DBB) on T2-weighted images, were compared. Radiomics models were used to establish combined models incorporating clinical risk factors. The DeLong test was performed to compare the performance of models using the receiver operating characteristic curves.

Results
For radiomics models, the area under the curve values ranged from 0.627 (0.518–0.728) to 0.811 (0.705–0.917) in the internal validation cohort and from 0.619 (0.469–0.754) to 0.824 (0.689–0.918) in the external validation cohort. Most radiomics models based on four annotations did not differ significantly, except between the 3D and 3DBB models for pLNM (p = 0.0188) in the internal validation cohort. For combined models, only the 2D model significantly differed from the 2DBB (p = 0.0372) and 3D models (p = 0.0380) for pDFS.

Conclusion
Radiomics and combined models constructed with 2D and bounding box annotations showed comparable performances to those with 3D and detailed annotations along tumour boundaries in rectal cancer characterisation and prognosis prediction.

Critical relevance statement
For quantitative analysis of radiological images, the selection of 2D maximum tumour area or bounding box annotation is as representative and easy to operate as 3D whole tumour or detailed annotations along tumour boundaries.

Key Points

There is currently a lack of discussion on whether different annotation efforts in radiomics are predictively representative.

No significant differences were observed in radiomics and combined models regardless of the annotations (2D, 3D, detailed, or bounding box).

Prioritise selecting the more time and effort-saving 2D maximum area bounding box annotation.

Graphical Abstract