bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report of a novel alpha1-antitrypsin null variant in Türkiye: Q0RİZE
Authors: Karadoğan Dilek , Şahin Ünal , Dreger Bettina , Grandoso Laura , Osaba Lourdes 
Published: February 2024

Abstract
Background
Alpha1-antitrypsin (AAT) is a serine protease inhibitor that serves as a counterbalance to the activity of elastases, e.g., neutrophil elastase in lung tissue. AAT deficiency (AATD) is a rare disorder usually arising from mutations to the SERPINA1 gene that codes for AAT. The most common AATD alleles are S and Z which produce ~ 40% and ~ 90% reductions in serum AAT, respectively. Rare genetic variants (> 500 identified) can also be associated with mild to severe AATD.

Results
This report describes a novel mutation of SERPINA1 producing AATD, which we have designated, Q0RİZE. This mutation was identified in a 44-year-old woman admitted with massive hemoptysis and treated with bronchial artery embolization. Computed tomography revealed centriacinar and panacinar emphysema with prominent air entrapment, atelectasis, and localized bronchiectasis. Serum AAT was < 0.27 g/L (below detection limit). Genetic analysis showed homozygous deletion of exons I to III.

Conclusions
Although many SERPINA1 variants have been identified, variants with large deletions and identified in a homozygous individual, as seen in this case with Q0RIZE, are uncommon. AATD is an underdiagnosed and undertreated disease. Wider screening of COPD patients could result in earlier diagnosis and treatment that could preserve lung function.
Comparison of high-flow nasal cannula oxygenation and non-invasive ventilation for postoperative pediatric cardiac surgery: a meta-analysis
Authors: Zhou Si-Jia , Chen Xiu-Hua , Liu Ying-Ying , Chen Qiang , Zheng Yi-Rong , Zhang Qi-Liang 
Published: February 2024

Abstract
Objective
To evaluate the efficacy of high-flow nasal cannula oxygenation (HFNC) versus non-invasive ventilation (NIV) in pediatric patients post-congenital heart surgery (CHS) through a meta-analysis.

Methods
A comprehensive literature search was conducted across the Chinese biomedical literature database, Vip database, CNKI, Wanfang, PubMed, Embase, Cochrane Library, and Web of Science until December 20, 2022. We selected RCTs or cohort studies that met inclusion criteria for a meta-analysis using RevMan 5.4 software.

Results
Our search yielded five publications, comprised of one randomized controlled trial and four cohort studies. Meta-analysis revealed a significant reduction in reintubation rates in children post-CHS treated with HFNC as compared to NIV [RR = 0.36, 95%CI(0.25 ~ 0.53), P < 0.00001]. There was also a notable reduction in the duration of ICU stay [MD = -4.75, 95%CI (-9.38 ~ -0.12), P = 0.04]. No statistically significant differences were observed between HFNC and NIV in terms of duration of mechanical ventilation, 24 h PaO2, and PaCO2 post-treatment (P > 0.05). Furthermore, both groups showed no significant difference in the duration of extracorporeal circulation [MD = -8.27, 95%CI(-17.16 ~ 0.62), P = 0.07].

Conclusions
For pediatric patients post-CHS, HFNC appears to be more effective than NIV in reducing reintubation rates and shortening the CICU stay.
Improving patients’ experiences of diagnosis and treatment of vertebral fracture: co-production of knowledge sharing resources
Authors: Bennett Sarah E. , Gooberman-Hill Rachael , Clark Emma M. , Paskins Zoe , Walsh Nicola , Drew Sarah 
Published: February 2024

Abstract
Background
Osteoporosis involves changes to bones that makes them prone to fracture. The most common osteoporotic fracture is vertebral, in which one or more spinal vertebrae collapse. People with vertebral fracture are at high risk of further fractures, however around two-thirds remain undiagnosed. The National Institute for Health and Care Excellence (NICE) recommends bone protection therapies to reduce this risk. This study aimed to co-produce a range of knowledge sharing resources, for healthcare professionals in primary care and patients, to improve access to timely diagnosis and treatment.

Methods
This study comprised three stages: 1. In-depth interviews with primary care healthcare professionals (n = 21) and patients with vertebral fractures (n = 24) to identify barriers and facilitators to diagnosis and treatment. 2. A taxonomy of barriers and facilitators to diagnosis were presented to three stakeholder groups (n = 18), who suggested ways of identifying, diagnosing and treating vertebral fractures. Fourteen recommendations were identified using the nominal group technique. 3. Two workshops were held with stakeholders to co-produce and refine the prototype knowledge sharing resources (n = 12).

Results
Stage 1: Factors included lack of patient information about symptoms and risk factors, prioritisation of other conditions and use of self-management. Healthcare professionals felt vertebral fractures were harder to identify in lower risk groups and mistook them for other conditions. Difficulties in communication between primary and secondary care meant that patients were not always informed of their diagnosis, or did not start treatment promptly. Stage 2: 14 recommendations to improve management of vertebral fractures were identified, including for primary care healthcare professionals (n = 9) and patients (n = 5). Stage 3: The need for allied health professionals in primary care to be informed about vertebral fractures was highlighted, along with ensuring that resources appealed to under-represented groups. Prototype resources were developed. Changes included help-seeking guidance and clear explanations of medical language.

Conclusions
The study used robust qualitative methods to co-produce knowledge sharing resources to improve diagnosis. A co-production approach enabled a focus on areas stakeholders thought to be beneficial to timely and accurate diagnosis and treatment. Dissemination of these resources to a range of stakeholders provides potential for substantial reach and spread.
Characterization of content associated with lesbian, gay, bisexual, transgender, intersex, and queer individuals in Chilean medical schools: a cross-sectional survey
Authors: Rojas Marcos , Cánepa González Joaquín , Ortiz-López Nicolás 
Published: February 2024

Abstract
Background
Lesbian, gay, bisexual, transgender, intersex, queer, and other sexual and gender identities (LGBTIQ+) individuals face health inequities. Additionally, medical students report a lack of confidence in providing specific health care to LGBTIQ + individuals, and medical schools do not offer the breadth and depth of coverage needed to fully prepare and make them comfortable in caring for these individuals. This study aims to characterize the teaching of curricular content related to LGBTIQ + health issues in medical schools in Chile.

Methods
This was a cross-sectional descriptive mixed-methods study based on a 15-question survey sent to school directors of the 24 medical schools in Chile, conducted between October 2020 and July 2021. The questions included in the study were mostly based on two pre-existing questionnaires covering content, assessment methods, and identification of barriers to teaching this content.

Results
The validated questionnaire was answered by 14 of 24 Chilean medical schools, with 11 schools (78.9%) declaring that they included some training in their curriculum. The predominant range of time allocated to LGBTIQ + training in medical programs was between 1 and 5 h. The most addressed topics were HIV (92.85%), sexual orientation (78.57%), and chronic disease risk in LGBTIQ + populations (78.57%). Most schools, accounting for 71.5%, considered the content they delivered to be “moderately insufficient” or “insufficient”. Regarding the teaching methodologies, the most used were lectures (92.8%), clinical cases (42.9%), and clinical simulation (28.6%).

Conclusion
Most surveyed medical schools reported curricular spaces dedicated to teaching health issues of LGBTIQ + individuals, primarily during the pre-internship training period. However, the time allocated is insufficient, and there is little approach to topics beyond the patient’s sexual history or sexual orientation. Given the crucial role of medical schools, they must adopt both local and national strategies to enrich training focused on the care of LGBTIQ + patients.
Usefulness of pedagogical design features of a digital educational resource into nursing home placement: a qualitative study of nurse educators’ experiences
Authors: Ravik Monika , Laugaland Kristin , Akerjordet Kristin , Aase Ingunn , Gonzalez Marianne Thorsen 
Published: February 2024

Abstract
Background
The rapid advancement of technology-enhanced learning opportunities has resulted in requests of applying improved pedagogical design features of digital educational resources into nursing education. Digital educational resources refers to technology-mediated learning approaches. Efficient integration of digital educational resources into nursing education, and particularly into clinical placement, creates considerable challenges. The successful use of digital educational resources requires thoughtful integration of technological and pedagogical design features. Thus, we have designed and developed a digital educational resource, digiQUALinPRAX, by emphasizing pedagogical design features. The nurse educators’ experiences of the usefulness of this digital educational resource is vital for securing improved quality in placement studies.

Aim
To obtain an in-depth understanding of the usefulness of the pedagogical design features of a digital educational resource, digiQUALinPRAX, in supporting nurse educators’ educational role in nursing home placements in the first year of nursing education.

Methods
An explorative and descriptive qualitative research design was used. Individual semi-structured interviews were conducted with six nurse educators working in first year of a Bachelor’s of Nursing programme after using the digital educational resource, digiQUALinPRAX, during an eight-week clinical placement period in nursing homes in April 2022.

Results
Two main categories were identified: (1) supporting supervision and assessment of student nurses and (2) supporting interactions and partnerships between stakeholders.

Conclusion
The pedagogical design features of the digiQUALinPRAX resource provided nurse educators with valuable pedagogical knowledge in terms of supervision and assessment of student nurses, as well as simplified and supported interaction and partnership between stakeholders.
Correlation of academic emotion and hardiness personality of undergraduate nursing students
Authors: Guo Lili , Yan Danfeng , Yan Junping , Jiao Rui 
Published: February 2024

Abstract
Background
Academic emotion is a fundamental emotional concept closely linked to academic achievement. Understanding the connection between academic emotion and the personality trait of hardiness is pivotal in maintaining a stable career orientation throughout one's educational career. Therefore, in pursuit of fostering the robust growth of nursing careers, it is imperative to delve into the academic emotions experienced by undergraduate nursing students. This study endeavors to mitigate the impact of gender differences among nursing students while investigating the intricate relationship between academic emotions and the trait of hardiness in their personalities.

Methods
This study employed a cross-sectional research design. We gathered data from a convenient sample of 292 nursing students enrolled at Shanxi University of Chinese Medicine. Each student provided demographic information and responded to a general academic mood questionnaire, as well as a Hardiness Personality Rating Scale. Subsequently, we used canonical correlation analysis to evaluate the correlation between academic emotion and tenacity personality in 292 undergraduate nursing students.

Results
We discovered that academic emotions among nursing students are predominantly characterized by feelings of disappointment and boredom. Furthermore, personality hardiness is primarily influenced by the dimensions of engagement and control. It is important to note that a heightened level of negative, low-arousal academic emotions can diminish the level of engagement. The first typical correlation coefficient corresponding to academic emotion and hardiness were 0.660. The linear combination of standardized variables of the first typical variable corresponding to academic emotion (X1) = -0.444*negative hyperarousal -0.443 * positive hyperarousal + 0.694 * negative hypoarousal -0.260 * positive hypoarousal. The standardized variable equation of the first typical variable corresponding to hardiness personality (η1) = 0.235* hardiness -0.433* control -0.530* investment -0.303* challenge.

Conclusions
Nursing students generally believe that their input is out of proportion to the return, and this unbalanced emotional experience will seriously affect their academic emotions in China. It is suggested that paying attention to cultivating their tenacious personality traits in the teaching process may help to enhance their academic emotions and enhance the sense of belonging and identity of nursing students engaged in the nursing profession.
Perspectives and experiences of healthcare providers on the response to the COVID-19 pandemic in three maternal and neonatal referral hospitals in Guinea in 2020: a qualitative study
Authors: Dioubaté Nafissatou , Diallo Mamadou Cellou , Maomou Cécé , Niane Harissatou , Millimouno Tamba Mina , Camara Bienvenu Salim , Sy Telly , Diallo Ibrahima Sory , Semaan Aline , Delvaux Thérèse , Beňová Lenka , Béavogui Abdoul Habib , Delamou Alexandre 
Published: February 2024

Abstract
Background
The COVID-19 pandemic has adversely affected access to essential healthcare services. This study aimed to explore healthcare providers’ perceptions and experiences of the response to the COVID-19 pandemic in three referral maternal and neonatal hospitals in Guinea.

Methods
We conducted a longitudinal qualitative study between June and December 2020 in two maternities and one neonatology referral ward in Conakry and Mamou. Participants were purposively recruited to capture diversity of professional cadres, seniority, and gender. Four rounds of in-depth interviews (46 in-depth interviews with 18 respondents) were conducted in each study site, using a semi-structured interview guide that was iteratively adapted. We used both deductive and inductive approaches and an iterative process for content analysis.

Results
We identified four themes and related sub-themes presented according to whether they were common or specific to the study sites, namely: 1) coping strategies & care reorganization, which include reducing staffing levels, maintaining essential healthcare services, suspension of staff daily meetings, insertion of a new information system for providers, and co-management with COVID-19 treatment center for caesarean section cases among women who tested positive for COVID-19; 2) healthcare providers’ behavior adaptations during the response, including infection prevention and control measures on the wards and how COVID-19-related information influenced providers’ daily work; 3) difficulties encountered by providers, in particular unavailability of personal protective equipment (PPE), lack of financial motivation, and difficulties reducing crowding in the wards; 4) providers perceptions of healthcare service use, for instance their fear during COVID-19 response and perceived increase in severity of complications received and COVID-19 cases among providers and parents of newborns.

Conclusion
This study provides insights needed to be considered to improve the preparedness and response of healthcare facilities and care providers to future health emergencies in similar contexts.
Prognosis and biological function of SGOL1 in clear cell renal cell carcinoma: a multiomics analysis
Authors: Yang Zezhong , Jiang Yunzhong , Wang Lu , Yu Binghe , Cai Hui , Fan Jinhai , Zhang Mengzhao 
Published: February 2024

Abstract
Background
Shugoshin-1 (SGOL1) is a mammalian ortholog of Shugoshin in yeast and is essential for precise chromosome segregation during mitosis and meiosis. Aberrant SGOL1 expression was reported to be closely correlated with the malignant progression of various tumors. However, the expression pattern and biological function of SGOL1 in clear cell renal cell carcinoma (ccRCC) are unclear.

Methods
The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases provide mRNA expression data and outcome information for ccRCC patients. Immunohistochemistry (IHC) of ccRCC tissue chips verified SGOL1 protein expression in ccRCC patients. Data processing and visualization were performed with the UALCAN, TISIDB, TIMER, GSCA, LinkedOmics, and starBase databases. Gene Ontology (GO) annotation and gene set enrichment analysis (GSEA) were used to identify SGOL1-related biological functions and signaling pathways. Immune infiltration analysis was performed using the TISIDB database, ssGSEA algorithm, and TCGA-KIRC cohort. The biological role of SGOL1 in ccRCC was investigated using a series of in vitro cytological assays, including the MTT assay, EdU staining assay, flow cytometry analysis, Transwell assay, and wound healing assay.

Results
SGOL1 was highly expressed in ccRCC and linked to adverse clinicopathological parameters and unfavorable prognosis. Multivariate logistic regression and nomogram calibration suggested that SGOL1 might serve as an independent and reliable prognostic predictor of ccRCC. Functional enrichment analysis indicated that SGOL1 may be involved in the cell cycle, the p53 pathway, DNA replication, and T-cell activation. Furthermore, tumor microenvironment (TME) analysis suggested that SGOL1 was positively associated with Treg infiltration and immune checkpoint upregulation. In addition, we identified a potential SNHG17/PVT1/ZMIZ1-AS1-miR-23b-3p-SGOL1 axis correlated with ccRCC carcinogenesis and progression. Finally, we demonstrated that SGOL1 promoted ccRCC cell proliferation, migratory capacity, and invasion in vitro.

Conclusions
SGOL1 potentially functions as an oncogene in ccRCC progression and might contribute to the immunosuppressive TME by increasing Treg infiltration and checkpoint expression, suggesting that targeting SGOL1 could be a novel therapeutic strategy for the treatment of ccRCC patients.
RNA-binding proteins signature is a favorable biomarker of prognosis, immunotherapy and chemotherapy response for cervical cancer
Authors: Chen Xiaomei , Dong Xunhu , Li Hong , Wu Tingting , Liu Haoyin , Wu Jie , Ge Wei , Hao Lingji , Zhang Zhe 
Published: February 2024

AbstractCervical squamous cell carcinoma and endocervical adenocarcinoma (CESC) still present a huge threaten to women’s health, especially the local advanced patients. Hence, developing more effectiveness prognostic signatures is urgently needed. This study constructed and verified a robust RNA-binding proteins (RBPs) related signature through a series of bioinformatics methods and explored the biological function of hub RBP in vitro experiments. As a result, the 10 RBPs signature was successfully established and could act as an independent prognostic biomarker in CESC patients, which displayed the highest sensitivity and specificity in prognosis prediction compared with other clinicopathological parameters. The risk model also presented good performance in risk stratification among CESC patients. Besides, a nomogram was constructed based on pathological stage and the risk signature and exhibited satisfactory accuracy in prognosis prediction. Functional enrichment indicated that the risk signature mainly participated in immune-related pathways and cancer-related pathways, and the infiltration level of immune cells and immune checkpoints showed a significantly higher degree in low-risk patients compared with high-risk patients. Notably, the 10 RBPs signature act as a novel biomarker in immunotherapy and chemotherapy response. In addition, PRPF40B was selected as hub RBP and its transcription and translation levels were obviously increased in CESC tissues, as well as Hela and Siha cells. Knockdown of PRPF40B inhibits the proliferation, migration and invasion of Hela and Siha cells in vitro. In conclusion, our research provides a noticeable strategy in prognostic prediction among CESC patients, which may illuminate the prospect of CESC patients’ clinical outcome.
Genomic and transcriptomic profiling of combined small-cell lung cancer through microdissection: unveiling the transformational pathway of mixed subtype
Authors: Ma Wenjuan , Zhou Ting , Song Mengmeng , Liu Jiaqing , Chen Gang , Zhan Jianhua , Ji Liyan , Luo Fan , Gao Xuan , Li Pansong , Xia Xuefeng , Huang Yan , Zhang Li 
Published: February 2024

Abstract
Background
Combined small-cell lung carcinoma (cSCLC) represents a rare subtype of SCLC, the mechanisms governing the evolution of cancer genomes and their impact on the tumor immune microenvironment (TIME) within distinct components of cSCLC remain elusive.

Methods
Here, we conducted whole-exome and RNA sequencing on 32 samples from 16 cSCLC cases.

Results
We found striking similarities between two components of cSCLC-LCC/LCNEC (SCLC combined with large-cell carcinoma/neuroendocrine) in terms of tumor mutation burden (TMB), tumor neoantigen burden (TNB), clonality structure, chromosomal instability (CIN), and low levels of immune cell infiltration. In contrast, the two components of cSCLC-ADC/SCC (SCLC combined with adenocarcinoma/squamous-cell carcinoma) exhibited a high level of tumor heterogeneity. Our investigation revealed that cSCLC originated from a monoclonal source, with two potential transformation modes: from SCLC to SCC (mode 1) and from ADC to SCLC (mode 2). Therefore, cSCLC might represent an intermediate state, potentially evolving into another histological tumor morphology through interactions between tumor and TIME surrounding it. Intriguingly, RB1 inactivation emerged as a factor influencing TIME heterogeneity in cSCLC, possibly through neoantigen depletion.

Conclusions
Together, these findings delved into the clonal origin and TIME heterogeneity of different components in cSCLC, shedding new light on the evolutionary processes underlying this enigmatic subtype.