bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bridging Visual-Spatial Ability and Skill Performance: The Impact of Perceived Quality of a Practical Seminar in Interventional Radiology Education
Authors: Bartels Jakob , Backhaus Joy , Kickuth Ralph , Fluck Friederika , Augustin Anne Marie , König Sarah 
Published: September 2024

BACKGROUNDMedical education integrates skills training and simulation to prepare students for clinical tasks. A seminar on interventional radiology was restructured to include specific practical training utilizing a 3D-catheter model. We aimed to investigate the complex interplay between student evaluations, their visual-spatial ability and practical performance.METHODSThe seminar comprised a short plenary introduction followed by 3 practical training units. Students were tested for their visual-spatial ability and their catheter insertion performance. Students rated the seminar and their interest in the subject. Data were subjected to descriptive, factorial, regression, and moderating analysis.RESULTSA total of 141 medical students enrolled in the seminar. They attributed a high didactic and practical quality and expressed great interest in the subject. Male students outperformed females in the cube perspective test. In the practical examination, males needed significantly less time on average (57.9 s) compared to females (73.1 s). However, there were no significant differences in the performance score, with a maximum of 5 attainable points: males 4.61 and females 4.51. The seminar evaluation explained a large portion of the variance (48.6%) in students’ interest in the subject. There was a moderating role of practical quality (β = 0.12, P < .05) on the link between the cube perspective test and the practical examination: rated high practical quality could partly compensate for low cube perspective scores, enhancing performance in the practical examination.CONCLUSIONSWell-designed practical courses and a perceived high teaching quality may assist students with deficits in visual-spatial ability to acquire clinical-practical skills. Such initiatives not only enhance learning outcomes across diverse student groups but also stimulate interest in specialized fields like interventional radiology, thereby potentially guiding future career paths in medicine.
National Registry for Childhood Onset Scleroderma I: Insights from the first 341 juvenile localized scleroderma patients
Authors: Branton Samantha A , Stubbs Leigh A , Havrilla Haley J , Torok Kathryn S 
Published: September 2024

Objectives: There is an under recognition of juvenile-onset localized scleroderma and its extracutaneous manifestations leading to delay in systemic treatment. Our study aims to address this gap by describing the demographics, presentation, associated family history, concurrent autoimmune disease, extracutaneous manifestations, laboratory evaluation, treatment, and course of disease in juvenile-onset localized scleroderma patients enrolled in the National Registry for Childhood Onset Scleroderma. Methods: Participants for this study were derived from the National Registry for Childhood Onset Scleroderma and included 341 patients with juvenile-onset localized scleroderma. Demographic, and prospectively collected outcome measures, such as the Localized Scleroderma Cutaneous Assessment Tool, physical exam findings, laboratory values, and patient-reported outcomes were reviewed. Results: Most patients were female (71%), Caucasian (94%), had a linear subtype (56%), and had the onset of disease at age 7.5 (±4.2) years, and diagnosis 1.9 (±2.6) years after symptom onset. Most patients experienced at least one extracutaneous manifestation (70%), most commonly musculoskeletal (57%), followed by neurological (46%), and ophthalmological (11%). Those with musculoskeletal extracutaneous manifestation have significantly abnormal inflammatory and antibody laboratory values. Of patients with 1-year follow-up, a majority were treated with systemic therapy and globally improved with significant reduction in both modified Localized Scleroderma Skin Index ( p < 0.001) and Localized Scleroderma Damage Index ( p = 0.001). Conclusion: The study highlights need for earlier recognition of juvenile-onset localized scleroderma after demonstrating the delay in diagnosis and frequent extracutaneous manifestations with significant disease burden in a juvenile-onset localized scleroderma cohort. The benefits of systemic treatment and full extracutaneous manifestation screening in juvenile-onset localized scleroderma is supported.
Limitations and potential strategies of immune checkpoint blockade in age-related neurodegenerative disorders
Authors: Lasheen Noha N. , Allam Salma , Elgarawany Abdullrahman , Aswa Darin W. , Mansour Rana , Farouk Ziad 
Published: September 2024

AbstractNeurological disorders such as Alzheimer’s disease (AD), and Parkinson’s disease (PD) have no disease-modifying treatments, resulting in a global dementia crisis that affects more than 50 million people. Amyloid-beta (Aβ), tau, and alpha-synuclein (α-Syn) are three crucial proteins that are involved in the pathogenesis of these age-related neurodegenerative diseases. Only a few approved AD medications have been used in the clinic up to this point, and their results are only partial symptomatic alleviation for AD patients and cannot stop the progression of AD. Immunotherapies have attracted considerable interest as they target certain protein strains and conformations as well as promote clearance. Immunotherapies also have the potential to be neuroprotective: as they limit synaptic damage and spread of neuroinflammation by neutralizing extracellular protein aggregates. Lately, disease-modifying therapies (DMTs) that can alter the pathophysiology that underlies AD with anti-Aβ monoclonal antibodies (MAbs) (e.g., aducanumab, lecanemab, gantenerumab, donanemab, solanezumab, crenezumab, tilavonemab). Similarly, in Parkinson's disease (PD), DMTs utilizing anti-αSyn (MAbs) (e.g., prasinezumab, cinpanemab,) are progressively being developed and evaluated in clinical trials. These therapies are based on the hypothesis that both AD and PD may involve systemic impairments in cell-dependent clearance mechanisms of amyloid-beta (Aβ) and alpha-synuclein (αSyn), respectively, meaning the body's overall inability to effectively remove Aβ and αSyn due to malfunctioning cellular mechanisms. In this review we will provide possible evidence behind the use of immunotherapy with MAbs in AD and PD and highlight the recent clinical development landscape of anti-Aβ (MAbs) and anti-αSyn (MAbs) from these clinical trials in order to better investigate the therapeutic possibilities and adverse effects of these anti-Aβ and anti-αSyn MAbs on AD and PD.
Expression profiling of circulating lncRNA GIAT4RA, lncRNA AATBC, lncRNA Sirt1-AS, and SMARCB1 in lung cancer patients
Authors: Hussein Neveen A. , Ebied Samia A. , Belal Abdel Aziz M. , Ahmad Mohamad A. , Weheida El Sayed A. 
Published: September 2024

AbstractLong noncoding RNAs (lncRNAs) are crucial regulators of biological processes such as transcription interference and activation, chromatin remodeling, and mRNA translation. Uncontrolled gene expression could result from various epigenetic modifiers, like lncRNAs. So, this study aimed to evaluate the expression profiles of lncRNA GIAT4RA, lncRNA AATBC, lncRNA Sirt1-AS, and SMARCB1 in lung cancer. The current study included lung cancer patients (n = 50), patients with chronic inflammatory diseases (n = 30), and healthy volunteers (n = 20). The expression of blood genes and the concentration of serum neuron-specific enolase were determined by real-time PCR and electrochemiluminescence immunoassay, respectively. The receiver operating characteristic and Kaplan-Meier analyses assess the sensitivity of genes as diagnostic and prognostic biomarkers, respectively. LncRNA GIAT4RA and lncRNA AATBC were upregulated, while lncRNA Sirt1-AS was significantly downregulated in all patients compared to the control group. SMARCB1 expression was significantly downregulated in chronic inflammatory patients, while in those with lung cancer, it showed an insignificant difference. The expression of lncRNA GIAT4RA and lncRNA AATBC was significantly related to the stage of lung cancer. The survival analyses showed that lower lncRNA Sirt1-AS was linked to lung cancer patients’ poorer disease-free survival and overall survival. Differences in lncRNA GIAT4RA, lncRNA AATBC, and lncRNA Sirt1-AS expression were detected in all patients. The consequent abnormal expression of lncRNAs could be crucial in lung cancer development. LncRNA GIAT4RA, lncRNA AATBC, and lncRNA Sirt1-AS may be utilized as promising diagnostic biomarkers. LncRNA AATBC, lncRNA Sirt1-AS, and SMARCB1 may be valuable prognostic biomarkers for lung cancer.
Multicenter exploration of specialist palliative care in patients with left ventricular assist devices – a retrospective study
Authors: Tenge Theresa , Shahinzad Shaylin , Meier Stefan , Schallenburger Manuela , Batzler Yann-Nicolas , Schwartz Jacqueline , Coym Anja , Rosenbruch Johannes , Tewes Mitra , Simon Steffen T. , Roch Carmen , Hiby Ute , Jung Christian , Boeken Udo , Gaertner Jan , Neukirchen Martin 
Published: September 2024

Abstract
Background
The number of advanced heart failure patients with left ventricular assist devices (LVAD) is increasing. Despite guideline-recommendations, little is known about specialist palliative care involvement in LVAD-patients, especially in Europe. This study aims to investigate timing and setting of specialist palliative care in LVAD-patients.

Methods
We conducted a retrospective multicenter study in 2022. Specialist palliative care services in German LVAD-centers were identified and invited to participate. Forty adult LVAD-patients (mean age 65 years (SD 7.9), 90% male) from seven centers that received a specialist palliative care consultation during hospitalization were included.

Results
In 37 (67.3%) of the 55 LVAD-centers, specialist palliative care was available. The median duration between LVAD-implantation and first specialist palliative care contact was 17 months (IQR 6.3–50.3 months). Median duration between consultation and death was seven days (IQR 3–28 days). 65% of consults took place in an intensive/intermediate care unit with half of the patients having a Do-Not-Resuscitate order. Care planning significantly increased during involvement (advance directives before: n = 15, after: n = 19, p < 0.001; DNR before: n = 20, after: n = 28, p < 0.001). Symptom burden as assessed at first specialist palliative care contact was higher compared to the consultation requests (request: median 3 symptoms (IQR 3–6); first contact: median 9 (IQR 6–10); p < 0.001) with a focus on weakness, anxiety, overburdening of next-of-kin and dyspnea. More than 70% of patients died during index hospitalization, one third of these in a palliative care unit.

Conclusions
This largest European multicenter investigation of LVAD-patients receiving specialist palliative care shows a late integration and high physical and psychosocial symptom burden. This study highlights the urgent need for earlier integration to identify and address poorly controlled symptoms. Further studies and educational efforts are needed to close the gap between guideline-recommendations and the current status quo.
Anatomical, histological, and scanning electron microscopic features of the esophagus and crop in young and adult domestic pigeons (Columba livia Domestica)
Authors: Mahdy Mohamed A. A. , Mohammed Elsayed S. I. 
Published: September 2024

Abstract
Background
Pigeons (Columba livia) are mainly raised as a source of animal protein, racing, leisure and as an experimental animal. The present study investigated the morphology of the esophagus in the young and adult domestic pigeon, Columba livia domestica.

Methods
Ten young and ten adult, normal, and healthy pigeons were collected from the local breeders. Samples from different parts of esophagus and crop were examined grossly, by stereomicroscopy, scanning and light microscopy.

Results
The esophagus consisted of a long cervical part, a crop, and a short thoracic part. The crop was represented by a thin-walled outpouching with two lateral diverticula. The mucosa presented wavy fine folds in the cervical esophagus, irregular folds in the lateral diverticula giving it a corrugated appearance, and prominent longitudinal folds with several gland openings in the middle and lower parts of the crop, as well as in the thoracic esophagus. The density of gland openings was higher in adult pigeons than that in young pigeons. The mucosa of the esophagus was lined by non-keratinized stratified squamous epithelium. The shape, height, and branching of the mucosal folds differed between young and adult pigeons. Mucous-secreting alveoli were detected in the middle part of the crop as well as in the thoracic esophagus, but not in the cervical esophagus or lateral diverticula of the crop.

Conclusion
The variations between the young and adult pigeons suggest a functional adaptation of adult pigeons to their diet compared to young pigeons.
Toxic epidermal necrolysis following heart transplantation may caused by cefoperazone sodium and sulbactam sodium
Authors: Xiaodong Zeng , Min Wu , Liming Lei , Jinsong Huang , Xiao Qi , Yuemei Liang , Yijin Wu 
Published: September 2024

Abstract
Background
The outcome of heart transplantation is significantly affected by perioperative infections. Individualised immunosuppression strategies are essential to reduce the risk of such infections.

Case presentation
We report the successful management of a 56-year-old male patient diagnosed with dilated cardiomyopathy who underwent heart transplantation. During the perioperative period, the patient was prescribed cefoperazone sodium and sulbactam sodium, which induced a severe skin reaction: toxic epidermal necrolysis (TEN). The patient was treated with prednisone, immunoglobulins, etanercept, and other active immunomodulatory measures, together with an individualised anti-rejection regimen and physical therapy. The systemic rash resolved within a month, and the patient was successfully discharged after surgery.

Conclusion
Effective management of heart transplantation necessitates balancing immunosuppression and infection prevention. Individualised immunosuppressive strategies are critical for optimal clinical outcomes.
Economic burden and health-related quality of life in patients with epidermolysis bullosa in Spain
Authors: Aranda-Reneo Isaac , Oliva-Moreno Juan , Peña-Longobardo Luz María , Villar-Hernández Álvaro Rafael , López-Bastida Julio 
Published: September 2024

Abstract
Background
. Epidermolysis bullosa (EB) is a rare genetic skin disorder characterized by fragility of skin with appearance of acute and chronic wounds. The aim of this study was to determine the economic burden and the health-related quality of life (HRQoL) of patients with epidermolysis bullosa (EB) in Spain from a societal perspective.

Methods
. We conducted a cross-sectional, retrospective study including 62 patients with EB (62% dystrophic, 9.6% junctional, 3.2% Kindler syndrome, and 26% with simplex EB). Data were collected from questionnaires completed by patients or their caregivers. The costs were estimated, including not only direct healthcare costs but also direct non-healthcare costs and productivity losses. We compared severe EB (Dystrophic, Junctional EB and Kindler syndrome) to non-severe EB (simplex EB) using as reference year 2022. HRQoL was measured by generic (EQ-5D) and specific (QoLEB) questionnaires.

Results
The average annual cost for an EB patient was €31,352. Direct healthcare costs represented 17.2% of the total cost, direct non-healthcare costs (mainly informal care costs) 71.3% and productivity losses 11.5% of the total cost. Participants in the severe EB group had a slightly higher average cost than participants in the non-severe EB group (€31,706 vs. €30,337). Direct healthcare costs and non-healthcare costs were higher in the severe EB group (€6,205 vs. €3,024 and €23,148 vs. €20,113) while productivity losses were higher in the non-severe EB group (€7,200 vs. €2,353). The mean utility index score, where the maximum value possible is one, was 0.45 for patients with severe EB (0.76 for their caregivers) and 0.62 for those with non-severe EB (0.77 for their caregivers).

Conclusions
. The social economic burden of EB, resulting from the high direct non-healthcare cost of informal care, and from the loss of productivity, accentuates the importance of not restricting cost analysis to direct healthcare costs. This substantiates that EB, particularly severe EB represents a significant hidden cost that should be revealed to society and should be considered in the support programmes for people who suffer from this disease, and in the economic evaluation of new treatments.
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Authors: Klouwer Femke C.C. , Roosendaal Stefan D. , Hollak Carla E. M. , Langeveld Mirjam , Poll-The Bwee Tien , Sorge Arlette J. van , Wolf Nicole I. , Knaap Marjo S. van der , Engelen Marc 
Published: September 2024

Abstract
Background
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxycholestenoic acid (THCA) and (R)-dihydroxycholestenoic acid (DHCA) and pristanic acid. With less than 20 patients described in literature, the phenotype of AMACR deficiency is poorly defined and no data on the natural history are available.

Results
Here we describe a cohort of 12 patients (9 adults and 3 children) with genetically confirmed AMACR deficiency (median age at diagnosis 56 years, range 3–69), followed for an average of 6 years (between 2015 and 2023). Five novel pathogenic variants are described. In 5/9 adult patients, retinitis pigmentosa was detected at a median age of 45 years (range 30–61). The median delay to diagnosis of AMACR deficiency after the diagnosis of retinitis pigmentosa was 24 years (range 0–33). All adult patients subsequently developed neurological signs and symptoms after the age of 40 years; most frequently neuropathy, ataxia and cognitive decline with prior normal cognitive functioning. One patient presented with a stroke-like episode. All adult patients showed a typical MRI pattern involving the thalami and gray matter structures of the pons and midbrain. One patient had a hepatocellular carcinoma at the time of the AMACR deficiency diagnosis and two patients suffered from gallstones. All three included children had elevated liver transaminases as single presenting sign and showed no brain MRI abnormalities.

Conclusion
AMACR deficiency can be considered as an adult slowly progressive disease with a predominant neurological phenotype. The main signs comprise retinitis pigmentosa, neuropathy, ataxia and cognitive decline; stroke-like episodes may occur. Recognition of typical MRI abnormalities may facilitate prompt diagnosis. In addition, there is a risk of liver fibrosis/cirrhosis and hepatocellular carcinoma in these patients, requiring active monitoring.
What the textbooks don’t teach about the reality of running a digitally enabled health study: a phenomenological interview study
Authors: Bradway Meghan , Garbarron Elia , Larbi Dillys , Breivik Elin , Muzny Miroslav , Årsand Eirik 
Published: September 2024

Abstract
Background
Most studies do not produce their intended outcomes on time or within budget. However, it is challenging to identify the facilitators and barriers to successful study management when the “behind the scenes action” of especially digitally enabled health research studies are akin to a black box. Therefore, it is necessary to explore first-hand experience of the facilitators and barriers to managing digitally enabled health studies. The goal of such studies is to produce new knowledge and/or develop tools that can be translated to real-world benefits for the health and care sector, individuals, and other stakeholders. These studies now exist in a time that encourages collaborative research activities with interdisciplinary research partnerships, industry collaboration, end-user involvement and insights for policy. These expectations require teams with different work cultures, methodologies, technologies, and approaches to work together, resulting in significant benefits but also challenges.

Objectives
To explore the relationship between the dynamics and needs of research teams and the technology used to manage digitally enabled studies through the experience of those who worked on such studies.

Methods
We used an interpretive phenomenological approach to explore research team members’ experiences and perceptions of study management in the field of digitally enabled health research. We interviewed 15 research team members from eight studies. A semi-structured interview guide was used to explore concepts related to study activity management, team dynamics, resources and technologies used to manage research activities, and reflections of personal experiences. An adductive thematic analysis was performed on the transcripts.

Results
Five main themes were identified: 1) Project Team, 2) Study management, which included management technologies, 3) Study plan, 4) Intervention, 5) Participants. This paper focuses on the first two main themes. Sub-themes included: Roles and responsibilities, Methods, Changes, Challenges and solutions and Expectations vs. reality. Sub-themes were applicable to all main themes. Therefore, results were presented as knowledge gained from the interaction between sub-themes within each theme, i.e. referred to as “comprehensive insights” in the results section of this paper.

Conclusion
This interview study provides new knowledge about the realities of working in collaborative, digitally enabled health research studies and demonstrates several opportunities for improved understanding of study management. More realistic and thorough understanding of the complex system in which digitally enabled health research exists can be applied to better prepare experienced researchers and newly graduated students entering the field, as well as improve existing strategies for management.
Artificial intelligence and cybercrime: implications for individuals and the healthcare sector
Authors: Monteith Scott , Glenn Tasha , Geddes John R. , Achtyes Eric D. , Whybrow Peter C. , Bauer Michael 
Published: September 2024

SummaryThe malicious use of artificial intelligence is growing rapidly, creating major security threats for individuals and the healthcare sector. Individuals with mental illness may be especially vulnerable. Healthcare provider data are a prime target for cybercriminals. There is a need to improve cybersecurity to detect and prevent cyberattacks against individuals and the healthcare sector, including the use of artificial intelligence predictive tools.
The interface of autism and (borderline) personality disorder
Authors: Zavlis Orestis , Tyrer Peter 
Published: September 2024

SummaryProminent clinical perspectives posit that the interface of autism and (borderline) personality disorder manifests as either a misdiagnosis of the former as the latter or a comorbidity of both. In this editorial, we integrate these disparate viewpoints by arguing that personality difficulties are inherent to the autistic spectrum.