bluuebunny/crossref_metadata_2025_split huggingface dataset:
Paediatric autoimmune diseases with ELANE mutations associated with neutropenia
Authors: Zhang Dan , Su Gaixiu , Hao Sheng , Lai Jianming , Feng Shunqiao 
Published: April 2023

AbstractObjectiveTo explore the clinical characteristics of autoimmune diseases in children with ELANE mutations.MethodsThree cases of children with ELANE mutations manifesting as autoimmune diseases, who were under treatment from April 2020 to May 2021, were retrospectively analysed.ResultsAmong the three children, two were boys aged 15 years and 22 months (cases 1 and 3) respectively, and the other one was a 22-month-old girl (case 2). All the cases had recurrent infections. Case 1 presented with cyclic neutropenia and systemic lupus erythematosus (SLE). Case 2 presented with severe neutropenia and autoimmune haemolytic anaemia (AHIA). Case 3 presented with severe neutropenia and anti-neutrophil cytoplasm antibodies (ANCA)-associated small vasculitis. Genetic tests showed that they all had heterozygous mutations in the ELANE gene. Case 1 was treated with methylprednisolone and hydroxychloroquine sulphate for 2 years, making neutrophil level return to normal. Case 2 received allogeneic hematopoietic stem cell transplantation and has stopped taking antibiotics, steroids and all the immunosuppressors. Case 3 received subcutaneous injections of granulocyte colony-stimulating factor, oral prednisone and cyclophosphamide. The boy in case 3 has been followed up for one year, and his absolute neutrophil count has increased to 1.56 × 109/L.ConclusionPatients with ELANE mutations, combined with autoimmune diseases, may have recurrent infections. Disease-modifying antirheumatic drugs (DMARDs) are effective for autoimmune diseases. Autoimmune diseases with ELANE mutations associated with neutropenia can be cured through allogeneic hematopoietic stem cell transplantation.
Metastatic lung tumor from hepatocellular carcinoma with tumor thrombus invasion in the pulmonary vein: a case report
Authors: Ohtaka Kazuto , Ohtake Setsuyuki , Ishii Yu , Kaku Saya , Takeuchi Yuta , Mizota Tomoko , Yamamura Yoshiyuki , Ichinokawa Masaomi , Yoshioka Tatsuya , Tamoto Eiji , Murakawa Katsuhiko , Ono Koichi 
Published: April 2023

Abstract
Background
Metastatic lung tumor with a tumor thrombus in the peripheral pulmonary vein is very rare. We present a case of a metastatic lung tumor from hepatocellular carcinoma (HCC) with tumor thrombus invasion in the pulmonary vein that was diagnosed preoperatively and underwent complete resection by segmentectomy.

Case presentation
A 77-year-old man underwent laparoscopic lateral segment hepatectomy for HCC eight years ago. Protein induced by vitamin K absence or antagonist-II remained elevated from two years ago. Contrast-enhanced chest computed-tomography (CT) showed a 27 mm nodule in the right apical segment (S1). He was pathologically diagnosed with a metastatic lung tumor from HCC via transbronchoscopic biopsy. We planned to perform right S1 segmentectomy. Before surgery, contrast-enhanced CT in the pulmonary vessels phase for three-dimensional reconstruction showed that the tumor extended into the adjusting peripheral pulmonary vein, and we diagnosed tumor thrombus invasion in V1a. The surgery was conducted under 3-port video-assisted thoracic surgery. First, V1 was ligated and cut. A1 and B1 were cut. The intersegmental plane was cut with mechanical staplers. Pathological examination revealed moderately-differentiated metastatic HCC with tumor thrombus invasions in many pulmonary veins, including V1a. No additional postoperative treatments were performed.

Conclusions
As malignant tumors tend to develop a tumor thrombus in the primary tumor, it might be necessary to perform contrast-enhanced CT in the pulmonary vessel phase to check for a tumor thrombus before the operation for metastatic lung tumors.
Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cyprus
Authors: Antoniadou Victoria , Hadjipanayis Adamos 
Published: April 2023

Abstract
Background
Rare diseases are a particular field of public health that is characterized by scattered, often insufficient knowledge and infrastructure. The scarcity of specialized knowledge often forces clinicians and patients to an incomplete picture of the diseases and their associated risks. Effective person-centred networks appear promising for solving such real world and life-defining problems by purposely sourcing expert knowledge that is geographically-dispersed. The design and implementation of the RARE-e-CONNECT network technology is described. The project was funded to create collaborative spaces for the development of international partnerships in Cyprus’ healthcare, promoting the dissemination of expert knowledge on rare diseases while saving resources through teleconsultation. Parameters that matter for patients, providers and policy-makers through the RARE-e-CONNECT experience were evaluated through a participatory mixed-method approach, consisting of (1) a needs assessment survey with 27 patients/families and 26 healthcare professionals at the two referral hospitals for the diagnosis and management of rare diseases in Cyprus; (2) interviews with 40 patients, families and patient representatives, as well as 37 clinicians and laboratory scientists, including national ERN coordinators/members; (3) activity metrics from 210 healthcare professionals and 251 patients/families/patient representatives who participated on the platform at the time of the research.

Results
Our results indicate usage and intention by both healthcare professionals and patients/families to openly provide decentralized specialized information for raising suspicion amongst clinicians to facilitate the necessary referrals, as well as peer to peer psychosocial support to help cope with the everyday challenges of living with the disease. User behavior was largely affected by the prevailing social norm favoring individual practice, as well as missing policies for telemedicine and shared care. This article discusses how telehealth is inextricably linked to social, cultural, organizational, technological and policy factors affecting uptake.

Conclusions
We argue that collective intelligence tools need to be formally considered and work hand in hand with national and European policies/regulatory frameworks to promote proactiveness amongst the healthcare community with regard to the timely diagnosis of rare diseases and the facilitation of patients’ pathway to specialists. Collaborative channels between countries need to be established to source collective intelligence on complex cases and save resources through teleconsultation/telementoring.
Optimization of polymyxin B regimens for the treatment of carbapenem-resistant organism nosocomial pneumonia: a real-world prospective study
Authors: Tang Tiantian , Li Ying , Xu Ping , Zhong Yanjun , Yang Min , Ma Wanjun , Xiang Daxiong , Zhang Bikui , Zhou Yangang 
Published: April 2023

Abstract
Background
Polymyxin B is the first-line therapy for Carbapenem-resistant organism (CRO) nosocomial pneumonia. However, clinical data for its pharmacokinetic/pharmacodynamic (PK/PD) relationship are limited. This study aimed to investigate the relationship between polymyxin B exposure and efficacy for the treatment of CRO pneumonia in critically ill patients, and to optimize the individual dosing regimens.

Methods
Patients treated with polymyxin B for CRO pneumonia were enrolled. Blood samples were assayed using a validated high-performance liquid chromatography-tandem mass spectrometry method. Population PK analysis and Monte Carlo simulation were performed using Phoenix NLME software. Logistic regression analyses and receiver operating characteristic (ROC) curve were employed to identify the significant predictors and PK/PD indices of polymyxin B efficacy.

Results
A total of 105 patients were included, and the population PK model was developed based on 295 plasma concentrations. AUCss,24 h/MIC (AOR = 0.97, 95% CI 0.95–0.99, p = 0.009), daily dose (AOR = 0.98, 95% CI 0.97–0.99, p = 0.028), and combination of inhaled polymyxin B (AOR = 0.32, 95% CI 0.11–0.94, p = 0.039) were independent risk factors for polymyxin B efficacy. ROC curve showed that AUCss,24 h/MIC is the most predictive PK/PD index of polymyxin B for the treatment of nosocomial pneumonia caused by CRO, and the optimal cutoff point value was 66.9 in patients receiving combination therapy with another antimicrobial. Model-based simulation suggests that the maintaining daily dose of 75 and 100 mg Q12 h could achieve ≥ 90% PTA of this clinical target at MIC values ≤ 0.5 and 1 mg/L, respectively. For patients unable to achieve the target concentration by intravenous administration, adjunctive inhalation of polymyxin B would be beneficial.

Conclusions
For CRO pneumonia, daily dose of 75 and 100 mg Q12 h was recommended for clinical efficacy. Inhalation of polymyxin B is beneficial for patients who cannot achieve the target concentration by intravenous administration.
Decentralized and scalable hybrid scheduling-clustering method for real-time applications in volatile and dynamic Fog-Cloud Environments
Authors: Hajvali Masoumeh , Adabi Sahar , Rezaee Ali , Hosseinzadeh Mehdi 
Published: April 2023

AbstractA major challenge in Cloud-Fog settings is the scheduling of workflow applications with time constraints as the environment is highly volatile and dynamic. Furthermore, adding the complexities of handling IoT nodes, as the major owners of the workflow requests, renders the problem space even harder to address. This paper presents a hybrid scheduling-clustering method for addressing this challenge. The proposed lightweight, decentralized, and dynamic clustering algorithm is based on fuzzy inference with intrinsic support for mobility to form stable and well-sized clusters of IoT nodes while avoiding global clustering and recurrent re-clustering. The proposed distributed method uses Cloud resources along with clusters of mobile and inert Fog nodes to schedule time-constrained workflow applications with considering a proper balance between contradicting criteria and promoting scalability and adaptability. The Velociraptor simulator (version 0.6.7) has been used to throughtly examine and compare the proposed method in real workloads with two contemporary and noteworthy methods. The evaluation results show the superiority of the proposed method as the resource utilization is about 20% better and the schedule success rate is almost 21% better compared with the two other methods. Also, other parameters such as throughput and energy consumption have been studied and reported.
Obese-associated gut microbes and derived phenolic metabolite as mediators of excessive motivation for food reward
Authors: de Wouters d’Oplinter Alice , Verce Marko , Huwart Sabrina J. P. , Lessard-Lord Jacob , Depommier Clara , Van Hul Matthias , Desjardins Yves , Cani Patrice D. , Everard Amandine 
Published: April 2023

Abstract
Background
Excessive hedonic consumption is one of the main drivers for weight gain. Identifying contributors of this dysregulation would help to tackle obesity. The gut microbiome is altered during obesity and regulates host metabolism including food intake.

Results
By using fecal material transplantation (FMT) from lean or obese mice into recipient mice, we demonstrated that gut microbes play a role in the regulation of food reward (i.e., wanting and learning processes associated with hedonic food intake) and could be responsible for excessive motivation to obtain sucrose pellets and alterations in dopaminergic and opioid markers in reward-related brain areas. Through untargeted metabolomic approach, we identified the 3-(3’-hydroxyphenyl)propanoic acid (33HPP) as highly positively correlated with the motivation. By administrating 33HPP in mice, we revealed its effects on food reward.

Conclusions
Our data suggest that targeting the gut microbiota and its metabolites would be an interesting therapeutic strategy for compulsive eating, preventing inappropriate hedonic food intake.
Using eye-tracking and retrospective verbal reports to explore the cognitive processes of banked gap-filling: a case study featuring methodological triangulation
Authors: Yang Chengsong 
Published: April 2023

AbstractThis study made triangulated use of eye-tracking and retrospective verbal reports (RVRs) to compare the banked gap-filling processes of two same-scorers and those of a top scorer and a bottom scorer. The two same-scorers differed in their cognitive effort on global and local processing, fluency of choice making, and strategy use when completing the task and half of the mutual correct responses. Contrary to findings from previous studies, the top scorer exerted much greater effort on global and local processing than the bottom scorer, in her pursuit of perfection, and she reported much less use of syntax analysis as a strategy. The findings of this study increase our understanding of individual differences in the cognitive processes of English-as-a-foreign-language (EFL) reading and test-taking and prove the value of in-depth, multi-faceted process research. Featuring the use of heatmaps, eye-tracking metrics, choice-making graphs, gaze plots, and RVRs, this study also responds to an emergent concern in language assessment about how the enormous process data can be handled effectively. Implications for testing and learning EFL reading are further developed.
Immune checkpoint inhibition mediated with liposomal nanomedicine for cancer therapy
Authors: Ma Guang-Long , Lin Wei-Feng 
Published: April 2023

AbstractImmune checkpoint blockade (ICB) therapy for cancer has achieved great success both in clinical results and on the market. At the same time, success drives more attention from scientists to improve it. However, only a small portion of patients are responsive to this therapy, and it comes with a unique spectrum of side effects termed immune-related adverse events (irAEs). The use of nanotechnology could improve ICBs’ delivery to the tumor, assist them in penetrating deeper into tumor tissues and alleviate their irAEs. Liposomal nanomedicine has been investigated and used for decades, and is well-recognized as the most successful nano-drug delivery system. The successful combination of ICB with liposomal nanomedicine could help improve the efficacy of ICB therapy. In this review, we highlighted recent studies using liposomal nanomedicine (including new emerging exosomes and their inspired nano-vesicles) in associating ICB therapy.
Defender self-efficacy and moral disengagement on social support and bystander behaviors among primary school students: a multilevel moderated mediation model
Authors: Wu Yuping , Zhou Yanfang , Shi Leishan 
Published: April 2023

AbstractThis study examines the influence of social support on bystander behaviors, the mediating and moderating effects of moral disengagement and defender self-efficacy at the individual and class levels, and their cross-level interaction. A total of 1310 children in grades 4–6 completed our questionnaire survey at four-time points between October and December in 2021. The questionnaires include the Scale of Perceived Social Support (T1), Moral Disengagement Scale (T2), Defender Self-Efficacy Scale (T3), and Bullying Participant Behaviors Questionnaire (T4). The multilevel moderated mediating model results show that (1) social support negatively predicts reinforcer and outsider behavior and positively predicts defender behavior; (2) defender self-efficacy plays a mediating role between social support and defender behavior, moral disengagement plays a mediating role between social support and bystander behaviors, and defender self-efficacy and moral disengagement play a chain mediation role between social support and bystander behavior; (3a) class-level defender self-efficacy has a direct impact on defender behavior and moderates the relationship between individual defender self-efficacy and reinforcer behavior; and (3b) class-level moral disengagement has a direct impact on defender and outsider behavior and a cross-level moderated role between individual moral disengagement and reinforcer behavior. These results show that the individual and class level defender self-efficacy and moral disengagement can influence the bystander behavior of primary school students, which is of great significance for schools to develop anti-bullying moral education courses and design measures to improve students’ anti-bullying self-efficacy.
The negative impact of atrial fibrillation, and other common cardiac risk factors on cognition
Authors: Oraby Mohammed I. , Soliman Rasha H. , Hussein Mona , Ibrahim Hanan Mohamed M. , ElMonem Noha A. Abd 
Published: April 2023

Abstract
Background
Accumulating evidence has suggested that atrial fibrillation might play a role in the pathogenesis of vascular cognitive impairment. The aim of this study was to evaluate the cognitive functions and to determine the pattern of cognitive impairment in stroke-free patients, with AF and other cardiac risk factors (pulmonary hypertension and diastolic dysfunction). 55 patients, diagnosed with AF and 40 matched normal controls underwent psychometric tests, including the Modified Mini-Mental State examination test, PALT test, BVRT test, Token test, Trail B test, and PASAT test. MRI of the brain was performed for the patients to exclude brain infarction and a cardiological assessment included electrocardiography and echocardiogram. All patients had confirmed diagnosis of AF in the last 12 months and 43 patients had pulmonary hypertension.

Results
AF patients had significant impairment (p-value 0.009) in different cognitive domains (verbal, visual memory and working memory), compared to controls. Patients with pulmonary hypertension had a significant impairment in receptive language skills, working memory, attention, and arithmetic capabilities.

Conclusion
AF stroke-free patients and patients with pulmonary hypertension had significant impairment in different cognitive domains.
Adult-onset hypothalamic hamartoma: origin of epilepsy?
Authors: Han Wenjie , Jiang Che , Qi Zijuan , Xiang Wei , Lin Jian , Zhou Youtian , Li Zhensheng , Deng Bingmei 
Published: April 2023

AbstractBackgroundHypothalamic hamartoma (HH) is a congenital non-progressive lesion of hypothalamus during fetal development. Mass-like lesions in different anatomical locations often develop a variously disabling course presenting with cognitive decline, psychiatric symptoms, as well as multiple seizure types. As a rare disease, HH is relatively common in infants and children, but it is extremely rare in adults.Case presentationWe reported a case of adult-onset hypothalamic hamartoma, and summarized and analyzed relevant reports and studies of HH worldwide. The patient had clinical manifestations characterized by multiple seizure forms. After stereotactic radiofrequency thermocoagulation and drug treatment, the condition was effectively controlled. The patient was followed up till October 2022, with no recurrence of seizures.ConclusionsEpilepsy caused by HH can resemble that of temporal lobe seizures, as HH forms a complex epileptogenic network with other regions of the brain through anatomical and functional connections. Early treatment of HH can provide better control of the symptoms of epilepsy, and patients with longer disease courses may have more complications.
The effect of e-health interventions on meeting the needs of individuals with infertility: a narrative review
Authors: Hamidzadeh Azam , Salehin Shahrbanoo , Naseri Boori Abadi Tahereh , Chaman Reza , Mogharabian Naser , Keramat Afsaneh 
Published: April 2023

AbstractBackgroundThe mental health and well-being of millions of people worldwide are negatively impacted by infertility. A promising solution to meet the needs of people suffering from infertility is e-health interventions, such as online counseling and support groups. This study aims to review the current literature on e-health interventions and how they impact people with infertility.Main body of the abstractRelevant studies were searched in PubMed, Web of Science, and Scopus databases. Articles were entered into the EndNote software and screened for duplicates and relevance. Two authors then reviewed full-text articles independently, with a third person resolving any disagreements. Thirteen studies conducted between 2007 and 2022 were identified. The interventions aimed to meet various needs, including training on drug use (n= 23), lifestyle modifications (n= 1), periconceptional behavior modifications (n= 1), drug management (n= 1), IVF training (n= 4), psychological support to reduce distress (n= 4), and promoting a positive sexual self-concept (n= 1).Short conclusionThe limited number of e-health interventions for infertile patients, the heterogeneity of interventions, and the lack of long-term effectiveness data make it challenging to compare e-health interventions to nonelectronic alternatives. However, the increasing use of technology in healthcare, especially during and after the Covid-19 pandemic, suggests that e-health educational interventions such as those using the Internet, psychological support, and patient interaction will continue to play a crucial role in healthcare.
Comparative study of adult tonsillectomy in two methods: harmonic scalpel and classical surgery
Authors: Bagherihagh Ali , Najarzadeh Ahmad Ali , Taheri Abolfazl , Saeedi Masoumeh , Hasanalifard Mahdieh 
Published: April 2023

Abstract
Background
Tonsillectomy is a common surgery to treat tonsillitis. In addition to cold dissection methods, other new methods are also used for tonsillectomy which has several advantages. We compared the cold dissection methods and the harmonic scalpel method and investigated the complications of both methods.

Methods
This is a descriptive analytical study on 50 patients in the population of 18 to 60 years who had tonsillectomy conditions based on the inclusion criteria. These patients were divided into two groups, harmonic scalpel method and cold dissection methods, and the duration of the operation, the amount of bleeding during the operation, the pain on the first, fourth, and seventh days after the operation, and the bleeding after the operation were measured in them.

Results
In this study, 36 men and 14 women were examined. The duration of surgery and the amount of bleeding during surgery were significantly less in the harmonic scalpel method group than in the cold dissection methods group (P = 0.000). Postoperative pain on days 1 and 4 after surgery was significantly less in the harmonic scalpel method group than in the cold dissection methods group (P = 0.047).

Conclusion
According to this study, the amount of bleeding and length of surgery were less in the harmonic scalpel method group. The pain on the first and fourth days after surgery was less in the harmonic group, but the pain on the seventh day was not significantly different from the cold dissection group.