bluuebunny/crossref_metadata_2025_split huggingface dataset:
Brain MRI in Progressive Supranuclear Palsy with Richardson's Syndrome and Variant Phenotypes
Authors: Wattjes Mike P. , Huppertz Hans‐Jürgen , Mahmoudi Nima , Stöcklein Sophia , Rogozinski Sophia , Wegner Florian , Klietz Martin , Apostolova Ivayla , Levin Johannes , Katzdobler Sabrina , Buhmann Carsten , Quattrone Andrea , Berding Georg , Brendel Matthias , Barthel Henryk , Sabri Osama , Höglinger Günter , Buchert Ralph ,   for the Alzheimer's Disease Neuroimaging Initiative
Published: August 2023

AbstractBackgroundBrain magnetic resonance imaging (MRI) is used to support the diagnosis of progressive supranuclear palsy (PSP). However, the value of visual descriptive, manual planimetric, automatic volumetric MRI markers and fully automatic categorization is unclear, particularly regarding PSP predominance types other than Richardson's syndrome (RS).ObjectivesTo compare different visual reading strategies and automatic classification of T1‐weighted MRI for detection of PSP in a typical clinical cohort including PSP‐RS and (non‐RS) variant PSP (vPSP) patients.MethodsForty‐one patients (21 RS, 20 vPSP) and 46 healthy controls were included. Three readers using three strategies performed MRI analysis: exclusively visual reading using descriptive signs (hummingbird, morning‐glory, Mickey‐Mouse), visual reading supported by manual planimetry measures, and visual reading supported by automatic volumetry. Fully automatic classification was performed using a pre‐trained support vector machine (SVM) on the results of atlas‐based volumetry.ResultsAll tested methods achieved higher specificity than sensitivity. Limited sensitivity was driven to large extent by false negative vPSP cases. Support by automatic volumetry resulted in the highest accuracy (75.1% ± 3.5%) among the visual strategies, but performed not better than the midbrain area (75.9%), the best single planimetric measure. Automatic classification by SVM clearly outperformed all other methods (accuracy, 87.4%), representing the only method to provide clinically useful sensitivity also in vPSP (70.0%).ConclusionsFully automatic classification of volumetric MRI measures using machine learning methods outperforms visual MRI analysis without and with planimetry or volumetry support, particularly regarding diagnosis of vPSP, suggesting the use in settings with a broad phenotypic PSP spectrum. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women
Authors: Danos Pierina , Giannoni‐Luza Stefano , Murillo Carrasco Alexis Germán , Acosta Oscar , Guevara‐Fujita Maria Luisa , Cotrina Concha José Manuel , Guerra Miller Henry , Pinto Oblitas Joseph , Aguilar Cartagena Alfredo , Araujo Jhajaira M. , Fujita Ricardo , Buleje Sono José Luis 
Published: August 2023

AbstractBackgroundPromoter hypermethylation is one of the enabling mechanisms of hallmarks of cancer. Tumor suppressor genes like RARB and GSTP1 have been reported as hypermethylated in breast cancer tumors compared with normal tissues in several populations. This case–control study aimed to determine the association between the promoter methylation ratio (PMR) of RARB and GSTP1 genes (separately and as a group) with breast cancer and its clinical‐pathological variables in Peruvian patients, using a liquid biopsy approach.MethodsA total of 58 breast cancer patients and 58 healthy controls, matched by age, participated in the study. We exacted cell‐free DNA (cfDNA) from blood plasma and converted it by bisulfite salts. Methylight PCR was performed to obtain the PMR value of the studied genes. We determined the association between PMR and breast cancer, in addition to other clinicopathological variables. The sensitivity and specificity of the PMR of these genes were obtained.ResultsA significant association was not found between breast cancer and the RARB PMR (OR = 1.90; 95% CI [0.62–6.18]; p = 0.210) or the GSTP1 PMR (OR = 6.57; 95% CI [0.75–307.66]; p = 0.114). The combination of the RARB + GSTP1 PMR was associated with breast cancer (OR = 2.81; 95% CI [1.02–8.22]; p = 0.026), controls under 50 years old (p = 0.048), patients older than 50 (p = 0.007), and postmenopausal (p = 0.034). The PMR of both genes showed a specificity of 86.21% and a sensitivity of 31.03%.ConclusionPromoter hypermethylation of RARB + GSTP1 genes is associated with breast cancer, older age, and postmenopausal Peruvian patients. The methylated promoter of the RARB + GSTP1 genes needs further validation to be used as a biomarker for liquid biopsy and as a recommendation criterion for additional tests in asymptomatic women younger than 50 years.
In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome
Authors: Pham Hung Manh , Dang Duy Phuong , Ta Thanh Dat , Le Thi Phuong , Phan Dinh Phong , Trinh Hoai An , Tran Tuan Viet , Luong Thi Lan Anh , Nguyen Ha Minh , Bui The‐Hung , Tran Thinh Huy , Ta Thanh Van , Tran Van‐Khanh 
Published: August 2023

AbstractBackgroundBrugada syndrome (BrS) is a rare genetic disease that causes sudden cardiac death (SCD) and arrhythmia. SCN5A pathogenic variants (about 30% of diagnosed patients) are responsible for BrS.AimsLack of knowledge regarding molecular characteristics and the correlation between genotype and phenotype interfere with the risk stratification and finding the optimal treatment in Vietnam. Therefore, we identified SCN5A variants and evaluated the genotype–phenotype correlation of BrS on 117 Vietnamese probands.Materials and MethodsThe clinical characteristics and blood samples of BrS patients were collected. To determine SCN5A variants, Sanger sequencing was conducted, and subsequently, these variants were analyzed by bioinformatic tools.ResultsIn this cohort, the overall rate of detected variants in SCN5A was 25.6%, which could include both pathogenic and benign variants. In genetic testing, 21 SCN5A variants were identified, including eight novels and 15 published variants. Multiple bioinformatic tools were used to predict variant effect with c.551A>G, c.1890+14G>A, c.3338C>T, c.3578G>A, and c.5484C>T as benign, while other variants were predicted as disease‐causing. The family history of SCD (risk ratio [RR] = 4.324, 95% CI: 2.290–8.269, p < 0.001), syncope (RR = 3.147, 95% CI: 1.668–5.982, p = 0.0004), and ventricular tachycardia/ventricular fibrillation (RR = 3.406, 95% CI: 1.722–5.400, p = 0.0035) presented a significantly higher risk in the SCN5A (+) group, consisting of individuals carrying any variant in the SCN5A gene, compared to SCN5A (−) individuals.ConclusionThe results contribute to clarifying the impact of SCN5A variants on these phenotypes. Further follow‐up studies need to be carried out to understand the functional effects of these SCN5A variants on the severity of BrS.
The Protective Effect of Pumpkin and Fermented Whey Mixture against AFB1 and OTA Immune Toxicity In Vitro. A Transcriptomic Approach
Authors: Frangiamone Massimo , Lozano Manuel , Cimbalo Alessandra , Lazaro Alvaro , Font Guillermina , Manyes Lara 
Published: August 2023

ScopeThe aim of the study is to investigate in Jurkat cells the possible beneficial effect of pumpkin (P) and fermented milk whey (FW) mixture against aflatoxin B1 (AFB1) and ochratoxin A (OTA) induced alterations in gene expression profile.Methods and resultsHuman T cells are exposed for 7 days to digested bread extracts containing P‐FW mixture along with AFB1 and OTA, individually and in combination. The results of RNA sequencing show that AFB1 P‐FW exposure resulted in 34 differentially expressed genes (DEGs) while 3450 DEGs are found in OTA P‐FW exposure and 3264 DEGs in AFB1‐OTA P‐FW treatment. Gene ontology analysis reveals biological processes and molecular functions related to immune system and inflammatory response. Moreover, PathVisio analysis points to eicosanoid signaling via lipoxygenase as the main pathway altered by AFB1 P‐FW exposure whereas interferon signaling is the most affected pathway after OTA P‐FW and AFB1‐OTA P‐FW treatments.ConclusionsThe mitigation of genes and inherent pathways typically associated with the inflammatory response suggest not only the anti‐inflammatory and protective role of P‐FW mixture but also their possible application in food industry to counteract AFB1 and OTA toxic effects on human and animal health.
Physiotherapists' views and experiences of health literacy in clinical practice
Authors: Simkins Joanna , Breakwell Richard , Kumar Kanta 
Published: August 2023

AbstractObjectiveUsing a qualitative design, this study aimed to explore the experience of physiotherapists' supporting patient health literacy in clinical practice, gain an understanding of their conceptualisation of health literacy, and make recommendations for improving health literacy support in clinical practice.MethodsConvenience sampling via social media was used to recruit eight participants who were all physiotherapists practicing in the United Kingdom. Semi‐structured interviews took place on Zoom during the second Covid‐19 lockdown. Interviews were audio‐recorded, transcribed, coded, and thematically analysed to uncover physiotherapists’ views on health literacy, experiences of supporting patients with health literacy and opinions and recommendations for practice.ResultsOf the eight participants, five were female and the mean years of clinical experience as a qualified physiotherapist was 5.8. Four main themes were identified: physiotherapists' conceptualisation of health literacy, identification of health literacy and skills required to support patients, training and barriers to providing health literacy‐sensitive care and recommendations for improvement.ConclusionThe findings highlighted that physiotherapists identified a patient's health literacy abilities by picking up tacit clues throughout their consultations and they pre‐dominantly viewed health literacy as the ability to read, write and communicate effectively. They reported having a limited exposure to health literacy training and recommended raising awareness and education as key to improve practice.
Genetic analysis reveals a complex mosaic of admixture in Brook Trout in a historically fragmented watershed
Authors: Lamy Jared B. , O'Donnell Brigid C. , Villamagna Amy M. , Morrill Tyson R. , Nugent Ben J. , Hoekwater Joshua C. 
Published: August 2023

Abstract

Objective
Assess how historical fragmentation in the form of perched culverts impacts Brook Trout Salvelinus fontinalis genetic diversity and differentiation in the Beebe River watershed (central New Hampshire), the site of a major culvert removal project in 2017.

Methods
We collected genetic samples from Brook Trout one year prior to (2016), and two years following (2018 and 2019) culvert removal from six tributaries in the watershed. We used two analytical approaches, STRUCTURE and discriminant analysis of principal components, to determine the degree to which admixture was occurring and the levels of genetic diversity in the sampled populations. We also compared pairwise FST values to measure the genetic differentiation between tributaries.

Result
The analysis revealed that the tributaries with impassable culverts (GR1, GR3, and GR5) exhibited a distinct genetic cluster, indicating genetic homogeneity. In contrast, the tributaries without barriers (GR2, ECR1, and GR4) showed a mixture of individuals assigned to multiple genetic clusters, indicating genetic admixture and high diversity. Culvert outlet drop heights correlated with the level of genetic differentiation and diversity. Culvert replacement did not immediately result in significant changes in the genetic composition of the Brook Trout populations. Fish in tributaries with culverts remained genetically distinct from those in other tributaries even two years after culvert removal.

Conclusion
The study demonstrates that historical fragmentation caused by culverts has influenced the population genetic structure of Brook Trout in the Beebe River watershed. Culvert replacement did not lead to immediate changes in genetic composition, suggesting that other factors, such as prespawning behavior and geomorphological disturbances, may have limited fish movement and spawning after culvert removal. The findings highlight the importance of considering the specific characteristics of culverts and their interactions with habitat conditions in assessing their impacts on genetic connectivity.
WKGM: weighted k‐space generative model for parallel imaging reconstruction
Authors: Tu Zongjiang , Liu Die , Wang Xiaoqing , Jiang Chen , Zhu Pengwen , Zhang Minghui , Wang Shanshan , Liang Dong , Liu Qiegen 
Published: August 2023

AbstractDeep learning based parallel imaging (PI) has made great progress in recent years to accelerate MRI. Nevertheless, it still has some limitations: for example, the robustness and flexibility of existing methods are greatly deficient. In this work, we propose a method to explore the k‐space domain learning via robust generative modeling for flexible calibrationless PI reconstruction, coined the weighted k‐space generative model (WKGM). Specifically, WKGM is a generalized k‐space domain model, where the k‐space weighting technology and high‐dimensional space augmentation design are efficiently incorporated for score‐based generative model training, resulting in good and robust reconstructions. In addition, WKGM is flexible and thus can be synergistically combined with various traditional k‐space PI models, which can make full use of the correlation between multi‐coil data and realize calibrationless PI. Even though our model was trained on only 500 images, experimental results with varying sampling patterns and acceleration factors demonstrate that WKGM can attain state‐of‐the‐art reconstruction results with the well learned k‐space generative prior.
Volunteer omnichannel behavior in nonprofit organizations: Key antecedents and implications for management
Authors: Mato‐Santiso Vanessa , Rey‐García Marta , Sanzo‐Pérez María José 
Published: August 2023

AbstractThe purpose of this research consists of identifying the antecedents that may influence the adoption of omnichannel behavior by volunteers. This behavior can be understood as the interchangeable use of online and offline channels, providing volunteers with multiple contact points with nonprofit organizations. To this end, we first propose a conceptual model based on Clary et al.'s motivations framework and other relevant literature. Second, we test our model through quantitative‐based research, employing an online questionnaire with a representative sample of 7822 volunteers working for the Spanish Red Cross. We then carry out a hierarchical cluster analysis to group similar volunteers into clusters according to the use they make of the different offline and online channels, followed by an ordered logistic regression analysis to test the hypotheses proposed. First, two volunteer profiles are identified: offline‐oriented volunteers with low or no omnichannel behavior, and online‐oriented volunteers with high or very high omnichannel behavior. Second, our results suggest that some types of motivations among volunteers (understanding the nonprofit, career or employment opportunities, the advice of family, friends, and acquaintances, and protective reasons), as well as the sense of belonging, perceived usefulness of new technologies, social influence and having feedback channels, all positively influence the adoption of omnichannel behavior by volunteers. Additionally, our findings reveal different effects for the two clusters identified. Finally, and using a contingency approach, implications for nonprofit–volunteer relationship management are drawn.
Robust integral controller design based on composite nonlinear feedback in uncertain systems with constrained inputs and external disturbances
Authors: Badruh Hamid , Ghaffari Valiollah , Jahromi Amin Torabi 
Published: August 2023

AbstractIn this article, to enhance the transient performances in constrained uncertain systems, a control technique based on linear matrix inequality (LMI) is characterized to the robust integral composite nonlinear feedback (CNF) controller design. To achieve this aim, considering the inputs limitations and the uncertainties, the regulation is transformed into a minimization subjected to several LMIs. Solving an optimization in real‐time, the gains of the controller are calculated. So, the regulation and the disturbance rejection are effectively handled employing the presented control law. Compared with the existing integral methodology, the provided simulations validate the applicability of the robust integral CNF control law in uncertain systems.
Letermovir for Cytomegalovirus prophylaxis in pediatric hematopoietic stem cell transplantation
Authors: Chen Teaghan T. , David Alexandria P. , Barthelmess Erin K. , MacBrayne Christine E. 
Published: August 2023

AbstractBackgroundLetermovir (LTV), an antiviral with exclusive activity against Cytomegalovirus (CMV), is approved for prophylaxis of CMV infection and disease in adult hematopoietic cell transplant (HCT) patients. The use of LTV in the pediatric HCT population is off‐label, and has limited literature to support its use.ProcedureThis was a single‐center, retrospective, matched (1:1 LTV:non‐LTV) cohort study of allogeneic HCT recipients transplanted at Children's Hospital Colorado from 2015 to 2022. The primary endpoint was clinically significant CMV DNAemia (defined as a CMV viral load >1000 copies/mL or any CMV DNAemia leading to preemptive treatment) through 6 months post transplant. Secondary outcomes included time to clinically significant CMV DNAemia, drug adverse effects, and dose adjustments of concomitant cyclosporine and voriconazole (known drug interactions).ResultsWe compared 41 patients who received LTV prophylaxis to 41 patients who received no CMV prophylaxis. There was less clinically significant CMV DNAemia through D+180 in the LTV group (9.8% vs. 17.0%, p = .33). Overall, LTV was well tolerated, and 87.8% of patients experienced no adverse effects related to the drug. There was no observed pattern in LTV effect on cyclosporine serum concentrations, but LTV was associated with decreased voriconazole trough levels.ConclusionsIn this retrospective study, the use of LTV prophylaxis in pediatric stem cell patients was associated with reduced clinically significant CMV DNAemia through D+180.
Psychosexual functioning in cancer survivorship: What the pediatric oncologist needs to know
Authors: Frederick Natasha N. , Lehmann Vicky , Ahler Astrid , Carpenter Kristen , Cherven Brooke , Klosky James L. , Nahata Leena , Quinn Gwendolyn P. 
Published: August 2023

AbstractSexual health may be disrupted in adolescents and young adults (AYAs) both during and after cancer treatment, irrespective of whether they are diagnosed in childhood, adolescence, or young adulthood. Unfortunately, oncology providers often underestimate the relevance of psychosexual issues for AYAs and underprioritize sexual health throughout treatment and survivorship. The purpose of this narrative review is to provide information on (a) the etiology of psychosexual dysfunction in childhood, adolescent, and young adult cancer patients and young adult survivors of childhood cancer; (b) strategies for communicating and evaluating potential sexual health issues of AYA patients/survivors; and (c) guidance for the practicing pediatric oncologist on how to address sexual health concerns with patients.
Novel advancements in additive manufacturing of PLA: A review
Authors: Odera Raphael Stone , Idumah Chistopher Igwe 
Published: August 2023

AbstractThree‐dimensional (3‐D) printing technology (3‐DPT) also referred to as additive manufacturing (AM) has advanced rapidly and is vastly used in varying manufacturing fields because of the minimization of waste materials and the ability to form complex geometrical shapes from micro‐ to macroscale. Nowadays, additive manufacturing (AM) has emerged extensively in varying engineering, architectural, medical, industrial, and manufacturing fields. Four‐dimensional (4‐D) printing technology (4‐DPT) synergizes 3‐DPT with stimuli‐sensitive materials and has garnered wide attention for smart additive fabrication. More so, 4‐DPT has displayed great prospects in numerous engineering applications including origami actuators, drug transport, robotics, smart clothing, and adaptive metamaterials. Hence, this elucidation presents recent advances in PLA additive manufacturing (3‐DPT) and applications. Insight into 4‐DPT is also presented.
Synthesis, characterization and performance of new 1,4‐diazabicyclo[2.2.2]octane derivatives in anion exchange membranes
Authors: Coppola Roxana Elisabeth , D'Accorso Norma Beatriz , Abuin Graciela Carmen 
Published: August 2023

AbstractAnion exchange membranes have aroused much interest for use in electrolyzers and alkaline fuel cells. In this work, two double‐charged anion exchange membranes based on poly(2,5‐benzimidazole) and poly(vinylbenzyl chloride) prepared by the casting method are reported. The effect of two different quaternizing agents based on 1,4‐diazabicyclo[2.2.2]octane (DABCO) was evaluated. These membranes were characterized by means of Fourier transform infrared spectroscopy, SEM, TGA, water contact angle, swelling ratio, KOH and water uptake, ionic exchange capacity and ionic conductivity. The results showed that the length of the alkyl chain has a strong effect on the membrane properties. A good performance in a zero‐gap water alkaline electrolyzer was obtained for the membrane based on the butyl derivate of DABCO (BDABCO). © 2023 Society of Industrial Chemistry.