bluuebunny/crossref_metadata_2025_split huggingface dataset:
Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers
Authors: Zimny Sebastian , Bourhis Hélène , Weber Sabine , Reiter Florian Paul , Hohenester Simon , Kraft Eduard , Mohr Isabelle , Merle Uta , Weiss Karl Heinz , Denk Gerald 
Published: May 2023

Abstract
Background
Wilson disease (WD) is a rare, hereditary disorder of copper metabolism. Due to its variable symptoms and manifestations, diagnosis remains challenging. Affected patients must obtain lifelong medical treatment, as the disease is fatal if untreated. Patients require continuous monitoring, but little is known about the care of these patients in Germany. Therefore, we analyzed the medical care of WD patients at German university centers. We sent a questionnaire containing 20 questions to a total of 108 departments of pediatrics, neurology and gastroenterology in 36 university hospitals. Our questions referred to the characteristics of WD patients at the different sites and internal procedures regarding diagnosis, therapy and follow-up. A descriptive statistical analysis was performed.

Results
Sixty-three departments (58%) returned our questionnaire. In total, approximately one-third of the estimated WD patients in Germany are seen annually in the outpatient clinics of these departments (approx. 950 patients). There are only a few departments which treat patients in a multidisciplinary setting (12%). Our survey revealed that for diagnosis, 51% of all departments used an algorithm based on the Leipzig score as recommended by international guidelines. Most departments apply essential parameters recommended by WD guidelines. Routine monitoring is performed at least biannually by 84% of the departments, and standard investigations for monitoring are regularly applied. A routine family screening is performed by 84% of all departments. A reduction in medical therapy during pregnancy is recommended by 46% of the departments. Only 14% suggested that WD patients should not breastfeed. Liver transplantation (LT) due to WD is a rare but repeatedly occurring event. Most departments of gastroenterology (72%) reported at least one patient with LT within the last decade.

Conclusions
Medical care of WD patients at German university centers follows the recommendations set forth by international guidelines, but only a few centers treat significant numbers of patients. The surveillance of patients does not follow specified standards, but most departments adhere to the accepted guidelines. The formation of central units and networks in a multidisciplinary setting should be evaluated to improve the care of WD patients.
Hypertension, antihypertensive drugs, and age at onset of Huntington’s disease
Authors: Zhu Yahui , Li Mao , Bai Jiongming , Wang Haoran , Huang Xusheng 
Published: May 2023

Abstract
Background
Associations between blood pressure (BP) with age at onset of Huntington’s disease (HD) have reported inconsistent findings. We used Mendelian randomization (MR) to assess effects of BP and lowering systolic BP (SBP) via the genes encoding targets of antihypertensive drugs on age at onset of HD.

Methods
Genetic variants from genome-wide association studies(GWAS) of BP traits and BP-lowering variants in genes encoding antihypertensive drugs targets were extracted. Summary statistics for age at onset of HD were retrieved from the GWAS meta-analysis of HD residual age at onset from the GEM-HD Consortium included 9064 HD patients of European ancestry (4417 males and 4,647 females). MR estimates were calculated using the inverse variance weighted method, supplemented by MR-Egger, weighted median, and MR-PRESSO methods.

Results
Genetically predicted SBP or diastolic BP increase was associated with a later age at onset of HD. However, after SBP/DBP was present as a covariate using multivariable MR method, no significant causal association was suggested. A 10-mm Hg reduction in SBP through variants in genes encoding targets of calcium channel blockers (CCB) was associated with an earlier age at onset of HD (β=-0.220 years, 95% CI =-0.337 to -0.102, P = 2.42 × 10− 4). We did not find a causal association between angiotensin converting enzyme inhibitors and β-blockers with the earlier HD onset. No heterogeneity and horizontal pleiotropy were identified.

Conclusions
This MR analysis provided evidence that genetically determined SBP lowering through antihypertensive drugs might be associated with an earlier age at onset of HD. The results may have a potential impact on management of hypertension in the pre-motor-manifest HD population.
Oral antibiotic prophylaxis for infection in patients with vascular anomalies receiving sirolimus treatment: a multicenter retrospective study
Authors: Qiu Tong , Li Yanan , Gong Xue , Zhou Jiangyuan , Yang Kaiying , Zhang Xuepeng , Zhang Zixin , Lan Yuru , Hu Fan , Peng Qiang , Zhang Yongbo , Kong Feiteng , Chen Siyuan , Ji Yi 
Published: May 2023

Abstract
Objectives
Patients with vascular anomalies (VAs) who receive oral sirolimus may be at high risk of infectious complications. Antibiotic prophylaxis with trimethoprim-sulfamethoxazole (TMP-SMZ) has been advocated. However, there have been few evidence-based analyses on this topic. This study assessed the effect of prophylactic TMP-SMZ on the incidence of infections in VA patients receiving sirolimus monotherapy.

Methods
A retrospective, multicenter chart review was performed on all VA patients receiving sirolimus treatment from August, 2013 to January, 2021.

Results
Before January 2017, 112 patients were treated with sirolimus without antibiotic prophylaxis. In the subsequent period, 195 patients were treated with TMP-SMZ for at least 12 months during sirolimus therapy. The percentage of patients with at least one serious infection during the initial 12 months of sirolimus treatment did not differ between the groups (difference, 1.1%; 95% CI − 7.0–8.0%). We observed no difference in the incidence of individual infection or total adverse events between the groups. The rate of sirolimus discontinuation due to adverse events did not differ significantly between groups.

Conclusions
We demonstrated that prophylactic TMP-SMZ does not decrease the incidence of infection or improve tolerance in VA patients receiving sirolimus monotherapy.
Primary seminal vesicle Burkitt lymphoma in a patient living with HIV undergoing radical prostate and seminal vesicle resection: a rare missed case report
Authors: Wu Menghua , Zheng Xin , Wang Wei , Chang Jing , Xue Meng , Zhang Yu , Song Jian , Zhao Jimao 
Published: May 2023

AbstractPrimary seminal vesicle Burkitt lymphoma (PSBL) is rare that is not frequently reported. Burkitt lymphoma is often associated with extranodal organs. The diagnosis of carcinoma in seminal vesical can be difficult. In this report, we present a missed case of PSBL in a male patient who underwent radical prostate and seminal vesicle resection. We retrospectively analyzed the clinical data to explore the diagnosis, pathological features, treatment, and prognosis of this rare disease. The patient visited our hospital for dysuria, and the serum prostate-specific antigen (PSA) was moderately elevated. Pelvic magnetic resonance imaging (MRI) and computed tomography (CT) scans suggested a notable enlargement of the seminal vesicle. The patient then underwent radical surgery and the pathology diagnosis revealed Burkitt lymphoma. The diagnosis of PSBL is difficult, and the prognosis is generally poorer than that of other types of lymphoma. However, earlier diagnosis and treatment may help to improve the survival rate among patients with Burkitt lymphoma.
Statistical analysis plan for HOMESIDE: a randomised controlled trial for home-based family caregiver-delivered music and reading interventions for people living with dementia
Authors: Pac Soo Vanessa , Baker Felicity A. , Sousa Tanara Vieira , Odell-Miller Helen , Stensæth Karette , Wosch Thomas , Bukowska Anna A. , Tamplin Jeanette , Lautenschlager Nicola , Braat Sabine , Lamb Karen E. 
Published: May 2023

Abstract
Background
Most people with dementia live in the community, not in residential care. Therefore, quality informal care for them is critical for managing behavioural and psychological symptoms of dementia (BPSD). Music therapy has been shown to reduce BPSD. However, no randomised controlled trial has examined the effects of music interventions delivered by caregivers in home settings. The HOME-based caregiver-delivered music intervention for people living with dementia (HOMESIDE) trial aims to evaluate the effectiveness of a 12-week music intervention in addition to standard care for BPSD. This article describes the statistical analysis plan.

Methods and analysis
HOMESIDE is a large, pragmatic international three-arm parallel-group randomised controlled trial. Dyads (persons with dementia and caregiver) in Australia, Germany, the UK, Poland and Norway were randomised to receive music and standard care, reading and standard care or standard care alone. The primary outcome is BPSD (proxy) of the person living with dementia, measured using the Neuropsychiatric Inventory-Questionnaire (NPI-Q) at 90 and 180 days post-randomisation. Longitudinal analysis will compare NPI-Q severity between music and standard care versus standard care alone. Secondary outcomes include quality of life and depression (both person with dementia and caregiver), cognition (person with dementia only), distress, resilience, competence and caregiver-patient relationship (caregiver only). Treatment effects will be obtained at 90 and 180 days post-randomisation, where applicable. Safety outcomes (adverse events, hospitalisations, deaths) will be summarised.

Discussion
This statistical analysis plan provides a detailed methodology for the analysis of HOMESIDE and will improve the validity of the study and reduce the potential for bias.

Trial registration
Australian New Zealand Clinical Trials Registry ACTRN12618001799246. Registered on November 05, 2018. ClinicalTrials.gov NCT03907748. Registered on April 09, 2019.
Immortalized erythroid cells as a novel frontier for in vitro blood production: current approaches and potential clinical application
Authors: Cervellera Christian Felice , Mazziotta Chiara , Di Mauro Giulia , Iaquinta Maria Rosa , Mazzoni Elisa , Torreggiani Elena , Tognon Mauro , Martini Fernanda , Rotondo John Charles 
Published: May 2023

Abstract
Background
Blood transfusions represent common medical procedures, which provide essential supportive therapy. However, these procedures are notoriously expensive for healthcare services and not without risk. The potential threat of transfusion-related complications, such as the development of pathogenic infections and the occurring of alloimmunization events, alongside the donor’s dependence, strongly limits the availability of transfusion units and represents significant concerns in transfusion medicine. Moreover, a further increase in the demand for donated blood and blood transfusion, combined with a reduction in blood donors, is expected as a consequence of the decrease in birth rates and increase in life expectancy in industrialized countries.

Main body
An emerging and alternative strategy preferred over blood transfusion is the in vitro production of blood cells from immortalized erythroid cells. The high survival capacity alongside the stable and longest proliferation time of immortalized erythroid cells could allow the generation of a large number of cells over time, which are able to differentiate into blood cells. However, a large-scale, cost-effective production of blood cells is not yet a routine clinical procedure, as being dependent on the optimization of culture conditions of immortalized erythroid cells.

Conclusion
In our review, we provide an overview of the most recent erythroid cell immortalization approaches, while also describing and discussing related advancements of establishing immortalized erythroid cell lines.
A CNN-based automatic vulnerability detection
Authors: An Jung Hyun , Wang Zhan , Joe Inwhee 
Published: May 2023

AbstractWith the advent of the Internet, the activities of individuals and businesses have expanded into the online realm. As a result, vulnerabilities that result in actual breaches can lead to data loss and program failure. The number of breaches is increasing every year, as is the number of vulnerabilities. To address this problem, current research focuses on the detection of vulnerabilities using static analysis techniques. To prevent the propagation of vulnerabilities, a new paradigm is needed to quickly detect vulnerabilities, analyze them, and take actions such as blocking or removing them. Recently, artificial intelligence algorithms such as deep learning have been introduced for vulnerability detection. In this paper, we propose a vulnerability detection model, V-CNN, which aims to detect CWE/CVE (Common Weakness Enumeration/Common Vulnerabilities and Exposures) using CNN (convolutional neural network). We trained CWE for deep learning and redefined vulnerabilities based on CWE. We propose an experimental algorithm to improve vulnerability detection. The accuracy of the proposed V-CNN model is 98%, which exceeds the 95% of the random forest model. Therefore, our V-CNN has excellent correctness detection performance in the field of vulnerability detection. The V-CNN vulnerability detection algorithm can be used instead of static analysis to detect various security vulnerabilities.
The stability of minimal solution sets for set optimization problems via improvement sets
Authors: Li Taiyong , Wei Yanhui 
Published: May 2023

AbstractIn this paper we investigate the stability of solution sets for set optimization problems via improvement sets. Some sufficient conditions for the upper semicontinuity, lower semicontinuity, and compactness of E-minimal solution mappings are given for parametric set optimization under some suitable conditions. We also give some examples to illustrate our main results.
Generalized fractional calculus in Banach spaces and applications to existence results for boundary value problems
Authors: Salem Hussein A. H. , Cichoń Mieczysław , Shammakh Wafa 
Published: May 2023

AbstractIn this paper, we present the definitions of fractional integrals and fractional derivatives of a Pettis integrable function with respect to another function. This concept follows the idea of Stieltjes-type operators and should allow us to study fractional integrals using methods known from measure differential equations in abstract spaces. We will show that some of the well-known properties of fractional calculus for the space of Lebesgue integrable functions also hold true in abstract function spaces. In particular, we prove a general Goebel–Rzymowski lemma for the De Blasi measure of weak noncompactness and our fractional integrals.We suggest a new definition of the Caputo fractional derivative with respect to another function, which allows us to investigate the existence of solutions to some Caputo-type fractional boundary value problems. As we deal with some Pettis integrable functions, the main tool utilized in our considerations is based on the technique of measures of weak noncompactness and Mönch’s fixed-point theorem. Finally, to encompass the full scope of this research, some examples illustrating our main results are given.
Appraisal of the costs, health effects, and cost-effectiveness of screening, prevention, treatment and policy-indicated evidence-based interventions for eating disorders: a systematic review protocol
Authors: Aouad Phillip , Ahmed Moin Uddin , Nassar Natasha , Miskovic-Wheatley Jane , Touyz Stephen , Maguire Sarah , Cunich Michelle 
Published: May 2023

Abstract
Background
Having reliable information to make decisions about the allocation of healthcare resources is needed to improve well-being and quality-of-life of individuals with eating disorders (EDs). EDs are a main concern for healthcare administrators globally, particularly due to the severity of health effects, urgent and complex healthcare needs, and relatively high and long-term healthcare costs. A rigorous assessment of up-to-date health economic evidence on interventions for EDs is essential for informing decision-making in this area. To date, health economic reviews on this topic lack a comprehensive assessment of the underlying clinical utility, type and amount of resources used, and methodological quality of included economic evaluations. The current review aims to (1) detail the type of costs (direct and indirect), costing approaches, health effects, and cost-effectiveness of interventions for EDs; (2) assess the nature and quality of available evidence to provide meaningful insights into the health economics associated with EDs.

Methods
All interventions for screening, prevention, treatment, and policy-based approaches for all Diagnostic and Statistics Manual (DSM-IV and DSM-5) listed EDs among children, adolescents, and adults will be included. A range of study designs will be considered, including randomised controlled trials, panel studies, cohort studies, and quasi-experimental trials. Economic evaluations will consider key outcomes, including type of resources used (time and valued in a currency), costs (direct and indirect), costing approach, health effects (clinical and quality-of-life), cost-effectiveness, economic summaries used, and reporting and quality assessments. Fifteen general academic and field-specific (psychology and economics) databases will be searched using subject headings and keywords that consolidate costs, health effects, cost-effectiveness and EDs. Quality of included clinical studies will be assessed using risk-of-bias tools. Reporting and quality of the economic studies will be assessed using the widely accepted Consolidated Health Economic Evaluation Reporting Standards and Quality of Health Economic Studies frameworks, with findings of the review presented in tables and narratively.

Discussion
Results emanating from this systematic review are expected to highlight gaps in healthcare interventions/policy-focused approaches, under-estimates of the economic costs and disease-burden, potential under-utilisation of ED-related resources, and a pressing need for more complete health economic evaluations.
Immune stimulation recruits a subset of pro-regenerative macrophages to the retina that promotes axonal regrowth of injured neurons
Authors: Andries Lien , Kancheva Daliya , Masin Luca , Scheyltjens Isabelle , Van Hove Hannah , De Vlaminck Karen , Bergmans Steven , Claes Marie , De Groef Lies , Moons Lieve , Movahedi Kiavash 
Published: May 2023

AbstractThe multifaceted nature of neuroinflammation is highlighted by its ability to both aggravate and promote neuronal health. While in mammals retinal ganglion cells (RGCs) are unable to regenerate following injury, acute inflammation can induce axonal regrowth. However, the nature of the cells, cellular states and signalling pathways that drive this inflammation-induced regeneration have remained elusive. Here, we investigated the functional significance of macrophages during RGC de- and regeneration, by characterizing the inflammatory cascade evoked by optic nerve crush (ONC) injury, with or without local inflammatory stimulation in the vitreous. By combining single-cell RNA sequencing and fate mapping approaches, we elucidated the response of retinal microglia and recruited monocyte-derived macrophages (MDMs) to RGC injury. Importantly, inflammatory stimulation recruited large numbers of MDMs to the retina, which exhibited long-term engraftment and promoted axonal regrowth. Ligand-receptor analysis highlighted a subset of recruited macrophages that exhibited expression of pro-regenerative secreted factors, which were able to promote axon regrowth via paracrine signalling. Our work reveals how inflammation may promote CNS regeneration by modulating innate immune responses, providing a rationale for macrophage-centred strategies for driving neuronal repair following injury and disease.
Is mechanical power an under-recognised entity within the preterm lung?
Authors: Tingay David G. , Naidu Hannah , Tingay Hamish D. , Pereira-Fantini Prue M. , Kneyber Martin C. J. , Becher Tobias 
Published: May 2023

Abstract
Background
Mechanical power is a major contributor to lung injury and mortality in adults receiving mechanical ventilation. Recent advances in our understanding of mechanical power have allowed the different mechanical components to be isolated. The preterm lung shares many of the same similarities that would indicate mechanical power may be relevant in this group. To date, the role of mechanical power in neonatal lung injury is unknown. We hypothesise that mechanical power maybe useful in expanding our understanding of preterm lung disease. Specifically, that mechanical power measures may account for gaps in knowledge in how lung injury is initiated.

Hypothesis-generating data set
To provide a justification for our hypothesis, data in a repository at the Murdoch Children’s Research Institute, Melbourne (Australia) were re-analysed. 16 preterm lambs 124–127d gestation (term 145d) who received 90 min of standardised positive pressure ventilation from birth via a cuffed endotracheal tube were chosen as each was exposed to three distinct and clinically relevant respiratory states with unique mechanics. These were (1) the respiratory transition to air-breathing from an entirely fluid-filled lung (rapid aeration and fall in resistance); (2) commencement of tidal ventilation in an acutely surfactant-deficient state (low compliance) and (3) exogenous surfactant therapy (improved aeration and compliance). Total, tidal, resistive and elastic-dynamic mechanical power were calculated from the flow, pressure and volume signals (200 Hz) for each inflation.

Results
All components of mechanical power behaved as expected for each state. Mechanical power increased during lung aeration from birth to 5 min, before again falling immediately after surfactant therapy. Before surfactant therapy tidal power contributed 70% of total mechanical power, and 53.7% after. The contribution of resistive power was greatest at birth, demonstrating the initial high respiratory system resistance at birth.

Conclusions
In our hypothesis-generating dataset, changes in mechanical power were evident during clinically important states for the preterm lung, specifically transition to air-breathing, changes in aeration and surfactant administration. Future preclinical studies using ventilation strategies designed to highlight different types of lung injury, including volu-, baro- and ergotrauma, are needed to test our hypothesis.