bluuebunny/crossref_metadata_2025_split huggingface dataset:
Modified cardiopulmonary bypass with low priming volume for blood conservation in cardiac valve replacement surgery
Authors: Yang Ke , Huang Honghao , Dai Ruiwu , Zhang Jinbao , Wei Xiaohong , Gao Feng , Wu Xiaochen , Wu Fan , He Siyi , Xin Mei 
Published: February 2023

Abstract
Background
The adverse effects of cardiopulmonary bypass during open cardiac surgery, including hemodilution, seem to be inevitable, especially for patients who generally have a relatively lower BMI with relatively small blood volumes. This study reports the modification and use of a cardiopulmonary bypass (CPB) system to reduce priming volume and hemodilution.

Methods
This is a retrospective study of 462 adult patients who underwent cardiac valve replacement surgery from January 2019 to September 2021 at the General Hospital of Western Theater Command. The modified group consisted of 212 patients undergoing modified CPB. The control group included 250 patients receiving conventional CPB. Evaluated indices included fluid intake and output volumes during CPB, intraoperative indices related to CPB operation, usage of blood products during the peri-CPB period, and postoperative outcomes.

Results
The modified group displayed a significant reduction in the crystalloid (200 mL vs. 600 mL, P < 0.05) and colloid priming volumes (450 mL vs. 1100 mL, P < 0.05), and ultrafiltration solution volume (750 mL vs. 1200 mL, P < 0.05). Furthermore, the modified group had a significantly lower rate of defibrillation (30.2% vs. 41.2%, P < 0.05). The intraoperative urine volume (650 mL vs. 500 mL, P < 0.05) and intraoperative hematocrit (Hct) (26% vs. 24%, P < 0.05) of the modified CPB group were also higher than in the control group. The modified group required a lower infusion volume of packed red blood cells (250 mL vs. 400 mL, P < 0.05) and lower infusion rates of packed red blood cells (17.9% vs. 25.2%, P < 0.05) and fresh frozen plasma (1.41% vs. 5.2%, P < 0.05). In addition, the modified group showed significantly improved indices related to postoperative recovery.

Conclusions
The modified CPB system effectively conserves blood and shows noteworthy potential for application in cardiac valve replacement surgery.
Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
Authors: Kohil Amira , Abdallah Atiyeh M. , Hussain Khalid , Al-Shafai Mashael 
Published: January 2023

Abstract
Background
Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to systematically review the genetic basis of WSS and report the genetic variants and clinical phenotypes associated with the disease.

Methods
PubMed, Science Direct, Scopus, and Web of Science databases were searched from the time of inception until June 2022. Broad search terms were used to capture the literature describing all genetic variants associated with WSS. The search keywords used are “Woodhouse Sakati” along with the term “mutation” OR “gene” OR “variant” OR “polymorphism”.

Results
Twenty-five eligible studies were included in this study. One hundred and eighty-five patients in 97 families from 12 different countries were diagnosed with WSS. In patients from the Greater Middle East (GME) region, consanguineous marriages were common (67%). Thirteen different DCAF17 variants were associated with WSS development (including 8 identified in the GME region). The most frequent variant was a frameshift deletion variant (c.436delC, p.Ala147Hisfs*9) unique to Arabs that was reported in 11 cases from Tunisia, Kuwait, Qatar, Bahrain, and Saudi Arabia. There were no clear genotype–phenotype correlations for the different variants.

Conclusions
This systematic review highlights the molecular basis and clinical manifestations of WSS globally, including the GME region, where the disease is prevalent due to consanguinity. Additional studies are now needed to understand the genotype–phenotype correlation for different DCAF17 variants and their impact on the phenotypic heterogeneity observed in WSS patients.
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
Authors: Sieliwonczyk Ewa , Alaerts Maaike , Simons Eline , Snyders Dirk , Nijak Aleksandra , Vandendriessche Bert , Schepers Dorien , Akdeniz Dogan , Van Craenenbroeck Emeline , Knaepen Katleen , Rabaut Laura , Heidbuchel Hein , Van Laer Lut , Saenen Johan , Labro Alain J. , Loeys Bart 
Published: January 2023

Abstract
Background
The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was observed in nine families presenting with either Jervell-Lange-Nielsen syndrome or long QT syndrome (LQTS). Here, we report on the molecular, clinical and functional characterization of the KCNQ1 c.1124_1127delTTCA variant.

Results
Forty-one heterozygous variant harboring individuals demonstrated a predominantly mild clinical and electrophysiological phenotype, compared to individuals harboring other KCNQ1 pathogenic variants (5% symptomatic before 40 years of age, compared to 24% and 29% in p.(Tyr111Cys) and p.(Ala341Val) variant carriers, respectively, 33% with QTc ≤ 440 ms compared to 10% in p.(Tyr111Cys) and p.(Ala341Val) variant carriers). The LQTS phenotype was most comparable to that observed for the Swedish p.(Arg518*) founder mutation (7% symptomatic at any age, compared to 17% in p.(Arg518*) variant carriers, 33% with QTc ≤ 440 ms compared to 16% in p.(Arg518*) variant carriers). Surprisingly, short tandem repeat analysis did not reveal a common haplotype for all families. One KCNQ1 c.1124_1127delTTCA harboring patient was diagnosed with Brugada syndrome (BrS). The hypothesis of a LQTS/BrS overlap syndrome was supported by electrophysiological evidence for both loss-of-function and gain-of-function (acceleration of channel kinetics) in a heterologous expression system. However, BrS phenotypes were not identified in other affected individuals and allelic KCNQ1 expression testing in patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) showed nonsense mediated decay of the c.1124_1127delTTCA allele.

Conclusions
The c.1124_1127delTTCA frameshift variant shows a high prevalence in our region, despite not being confirmed as a founder mutation. This variant leads to a mild LQTS phenotype in the heterozygous state. Despite initial evidence for a gain-of-function effect based on in vitro electrophysiological assessment in CHO cells and expression of the KCNQ1 c.1124_1127delTTCA allele in patient blood cells, additional testing in iPSC-CMs showed lack of expression of the mutant allele. This suggests haploinsufficiency as the pathogenic mechanism. Nonetheless, as inter-individual differences in allele expression in (iPSC-) cardiomyocytes have not been assessed, a modifying effect on the BrS phenotype through potassium current modulation cannot be excluded.
Nonhuman primate genetic models for the study of rare diseases
Authors: Vallender Eric J. , Hotchkiss Charlotte E. , Lewis Anne D. , Rogers Jeffrey , Stern Joshua A. , Peterson Samuel M. , Ferguson Betsy , Sayers Ken 
Published: January 2023

AbstractPre-clinical research and development relies heavily upon translationally valid models of disease. A major difficulty in understanding the biology of, and developing treatments for, rare disease is the lack of animal models. It is important that these models not only recapitulate the presentation of the disease in humans, but also that they share functionally equivalent underlying genetic causes. Nonhuman primates share physiological, anatomical, and behavioral similarities with humans resulting from close evolutionary relationships and high genetic homology. As the post-genomic era develops and next generation sequencing allows for the resequencing and screening of large populations of research animals, naturally occurring genetic variation in nonhuman primates with clinically relevant phenotypes is regularly emerging. Here we review nonhuman primate models of multiple rare genetic diseases with a focus on the similarities and differences in manifestation and etiologies across species. We discuss how these models are being developed and how they can offer new tools and opportunities for researchers interested in exploring novel therapeutics for these and other genetic diseases. Modeling human genetic diseases in translationally relevant nonhuman primates presents new prospects for development of therapeutics and a better understanding of rare diseases. The post-genomic era offers the opportunity for the discovery and further development of more models like those discussed here.
A pilot randomised controlled trial of the Peer Tree digital intervention targeting loneliness in young people: a study protocol
Authors: Lim Michelle H. , Thurston Lily , Eres Robert , Rodebaugh Thomas L. , Alvarez-Jimenez Mario , Penn David L. , Kostakos Vassilis , Gleeson John F. M. 
Published: February 2023

Abstract
Background
Young people are vulnerable to experiencing problematic levels of loneliness which can lead to poor mental health outcomes. Loneliness is a malleable treatment target and preliminary evidence has shown that it can be addressed with digital platforms. Peer Tree is a strength-based digital smartphone application aimed at reducing loneliness. The study aim is to reduce loneliness and assess the acceptability, usability, and feasibility of Peer Tree in young people enrolled at university.

Methods
This will be a pilot randomised controlled trial (RCT) comparing a strength-based digital smartphone application (Peer Tree) with a control condition. Forty-two young people enrolled at university will be recruited for this pilot RCT. Participants with suicidal ideation or behaviours, acute psychiatric symptoms in the past month, or a current diagnosis of a mood or social anxiety disorder will be excluded. Allocation will be made on a 1:1 ratio and will occur after the initial baseline assessment. Assessments are completed at baseline, at post-intervention, and at follow-up. Participants in the control condition complete the same three assessment sessions. The primary outcome of the study will be loneliness. Depression, social anxiety, quality of life, acceptability, usability, feasibility, and safety of Peer Tree will also be measured as secondary outcomes.

Discussion
This trial will report the findings of implementing Peer Tree, a smartphone application aimed at reducing loneliness in university students. Findings from this trial will highlight the initial efficacy, acceptability, and feasibility of using digital positive psychology interventions to reduce subthreshold mental health concerns. Findings from this trial will also describe the safety of Peer Tree as a digital tool. Results will contribute evidence for positive psychology interventions to address mental ill-health.

Trial registration
Australian New Zealand Clinical Trial Registry ACTRN12619000350123. Registered on 6 March 2020
Molecular diagnosis of urogenital schistosomiasis in pre-school children, school-aged children and women of reproductive age at community level in central Senegal
Authors: Sow Doudou , Sylla Khadime , Dieng Ndeye Marème , Senghor Bruno , Gaye Papa Mouhamadou , Fall Cheikh B. , Goumballa Ndiaw , Diallo Aldiouma , Ndiaye Jean Louis A. , Parola Philippe , Sokhna Cheikh , Doucouré Souleymane , Faye Babacar 
Published: January 2023

Abstract
Background
Urogenital schistosomiasis is a major public health concern in sub-Saharan Africa. In Senegal, the disease is endemic in all regions of the country. Recently, WHO strongly recommended including pre-school children and women of reproductive age during a mass drug administration campaign. It is important to describe the burden of the disease in these group at risk using innovative diagnostic tools. This study aimed to assess the use of real-time PCR in the detection of schistosomiasis cases at the community level in a seasonal transmission area.

Methods
A cross-sectional survey was carried out in Niakhar located in the centre of Senegal. Pre-schoolchildren, school-aged children and female adolescents and adults were invited to participate in the study in April 2018. Urine samples were collected and examined using Hemastix reagent strips, filtration technique and real-time PCR. Schistosoma haematobium was detected, identified by targeting the Dra1 gene. The prevalence of urogenital schistosomiasis was determined for each group and the performance of the real-time PCR was compared with the conventional techniques.

Results
A total of 428 participants were enrolled in this study including 87 (20.4%) pre-school children (1–5 years), 262 (61.3%) school-aged children between (5–14 years), 17 (3.9%) adolescents (15–17 years) and 62 (14.4%) female adults. The comparison of the diagnostic techniques has shown that the prevalence of urogenital schistosomiasis is higher using molecular technique (34.6%) compared to microscopy (20.3%). The percentage rate of haematuria using Hemastix was 23.1%. School-aged children between 5 and 14 years old were the most affected with 29.0% and 43.1% under microscopy and RT-PCR, respectively. In female participants, microscopic prevalence decreases with age, from 21.4% in school-aged children to 17.6% in adolescents and 9.7% in adults. There was good correlation between the number of eggs per 10 ml and the cycle threshold range.

Conclusion
These results show the importance of using molecular tools in the surveillance of schistosomiasis particularly in pre-school children and women of reproductive age.

Graphical Abstract
Generative model based on junction tree variational autoencoder for HOMO value prediction and molecular optimization
Authors: Kondratyev Vladimir , Dryzhakov Marian , Gimadiev Timur , Slutskiy Dmitriy 
Published: February 2023

AbstractIn this work, we provide further development of the junction tree variational autoencoder (JT VAE) architecture in terms of implementation and application of the internal feature space of the model. Pretraining of JT VAE on a large dataset and further optimization with a regression model led to a latent space that can solve several tasks simultaneously: prediction, generation, and optimization. We use the ZINC database as a source of molecules for the JT VAE pretraining and the QM9 dataset with its HOMO values to show the application case. We evaluate our model on multiple tasks such as property (value) prediction, generation of new molecules with predefined properties, and structure modification toward the property. Across these tasks, our model shows improvements in generation and optimization tasks while preserving the precision of state-of-the-art models.
Direct reconstruction for simultaneous dual-tracer PET imaging based on multi-task learning
Authors: Zeng Fuzhen , Fang Jingwan , Muhashi Amanjule , Liu Huafeng 
Published: January 2023

Abstract
Background
Simultaneous dual-tracer positron emission tomography (PET) imaging can observe two molecular targets in a single scan, which is conducive to disease diagnosis and tracking. Since the signals emitted by different tracers are the same, it is crucial to separate each single tracer from the mixed signals. The current study proposed a novel deep learning-based method to reconstruct single-tracer activity distributions from the dual-tracer sinogram.

Methods
We proposed the Multi-task CNN, a three-dimensional convolutional neural network (CNN) based on a framework of multi-task learning. One common encoder extracted features from the dual-tracer dynamic sinogram, followed by two distinct and parallel decoders which reconstructed the single-tracer dynamic images of two tracers separately. The model was evaluated by mean squared error (MSE), multiscale structural similarity (MS-SSIM) index and peak signal-to-noise ratio (PSNR) on simulated data and real animal data, and compared to the filtered back-projection method based on deep learning (FBP-CNN).

Results
In the simulation experiments, the Multi-task CNN reconstructed single-tracer images with lower MSE, higher MS-SSIM and PSNR than FBP-CNN, and was more robust to the changes in individual difference, tracer combination and scanning protocol. In the experiment of rats with an orthotopic xenograft glioma model, the Multi-task CNN reconstructions also showed higher qualities than FBP-CNN reconstructions.

Conclusions
The proposed Multi-task CNN could effectively reconstruct the dynamic activity images of two single tracers from the dual-tracer dynamic sinogram, which was potential in the direct reconstruction for real simultaneous dual-tracer PET imaging data in future.
The role of biostatistics in the response to COVID-19: a Belgian and international perspective
Authors: Molenberghs Geert 
Published: January 2023

AbstractIn this commentary to Dattner et al.(Israel J Health Policy Res. 11:22, 2022), we highlight similarities and differences in the role that biostatistics and biostatisticians have been playing in the COVID-19 response in Belgium and Israel. We bring out implications and opportunities for our field and for science. We argue that biostatistics has an important place in the multidisciplinary COVID-19 response, in terms of research, policy advice, and science and public communication. In Belgium, biostatisticians located in various institutes, collaborated with epidemiologists, vaccinologists, infectiologists, immunologists, social scientists, and government policy makers to provide rapid and science-informed policy advice. Biostatisticians, who can easily be mobilized to work together in pandemic response, also played a role in public communication.
A novel density-based clustering method for effective removal of spurious intersections in bearings-only localization
Authors: Deng Zhian , Wang Zhiguo , Zhang Tianbao , Zhang Chunjie , Si Weijian 
Published: February 2023

AbstractIn bearings-only localization, clustering-based methods have been widely used to remove spurious intersections by fusing multiple bearing measurements from different observation stations. Existing clustering methods, including fuzzy C-mean (FCM) clustering and density-based spatial clustering of applications with noise (DBSCAN), must specify the number of clusters and the threshold for defining the neighborhood density, respectively, which are always unknown and difficult to estimate. Moreover, in dense radiation source scenes, existing clustering methods for removal of spurious intersections all deteriorate significantly. Therefore, we propose a novel density-based clustering method called K-M-DBSCAN, which combines the minimum K distance algorithm with Mahalanobis distance-based DBSCAN clustering. Firstly, K-M-DBSCAN uses minimum K distance algorithm for preprocessing to remove most of the spurious intersections and reduce the computational complexity of clustering. Mahalanobis distance-based DBSCAN is used for clustering and spurious intersections recognition. In order to adapt the large variations of sample density in clustering, we use Mahalanobis distance to define an explicit neighborhood of DBSCAN instead of traditional Euclidean distance. Simulation results show that the proposed K-M-DBSCAN performs better than FCM and DBSCAN in removing of spurious intersections.
A novel framework for extracting moment-based fingerprint features in specific emitter identification
Authors: Zhao Yurui , Wang Xiang , Sun Liting , Huang Zhitao 
Published: January 2023

AbstractExtensive experiments illustrate that moments and their derivations can act as effective fingerprint features for specific emitter identification. Nevertheless, the lack of mechanistic explanation restricts the moment-based fingerprint features to a trial-based and data-driven technique. To make up for theoretical weakness and enhance generalization ability, we analytically investigate how intentional modulation and unintentional modulation affect moments. A framework for extracting moment-based fingerprint features is proposed through fine-segmenting slices. Fingerprint features are extracted, followed by segmenting signals into a combination of sinewaves and calculating their moments. The proposed framework shows advantages in mechanism interpretability and generalizing ability. Simulations and experiments verified the correctness and effectiveness of the proposed framework.
Training and support for the role of facilitator in implementation of innovations in health and community care: a scoping review protocol
Authors: Tistad Malin , Bergström Anna , Elf Marie , Eriksson Leif , Gustavsson Catharina , Göras Camilla , Harvey Gill , Källberg Ann-Sofie , Rudman Ann , Unbeck Maria , Wallin Lars 
Published: January 2023

Abstract
Background

Implementing and sustaining innovations in clinical practice, such as evidence-based practices, programmes, and policies, is frequently described as challenging. Facilitation as a strategy for supporting implementation requires a facilitator, i.e. an individual with a designated role to support the implementation process. A growing number of studies report that facilitation can help tackle the challenges in implementation efforts. To optimise the potential contribution of facilitation as a strategy to improve the implementation of new practices, there is a need to enhance understanding about what training and support is required for individuals in the facilitator role.
The objective of this scoping review is to map how facilitators have been trained for, and supported in, the facilitator role in implementation studies in health and community care. Specifically, the review aims to examine what is reported on training and support of facilitators in terms of learning outcomes, content, dose, mode of delivery, learning activities, and qualifications of the trainers and how the facilitators perceive training and support.

Methods
This scoping review will follow the guidance of the Joanna Briggs Institute and the PRISMA Extension for Scoping Review checklist. We will include articles in which (a) facilitation is deployed as an implementation strategy, with identified facilitator roles targeting staff and managers, to support the implementation of specified innovations in health or community care, and (b) training and/or support of facilitators is reported. We will exclude articles where facilitation is directed to education or training in specific clinical procedures or if facilitation supports the implementation of general quality improvement systems. All types of peer-reviewed studies and study protocols published in English will be included. A systematic search will be performed in MEDLINE (Ovid), Embase (embase.com), Web of Science Core Collection, and CINAHL (Ebsco).

Discussion
The proposed scoping review will provide a systematic mapping of the literature on the training and support of implementation facilitators and contribute useful knowledge within the field of implementation science to inform future facilitation initiatives.

Systematic review registration
Registered at Open Science Framework (registration https://doi.org/10.17605/OSF.IO/M6NPQ).
Newton–Simpson-type inequalities via majorization
Authors: Butt Saad Ihsan , Javed Iram , Agarwal Praveen , Nieto Juan J. 
Published: January 2023

AbstractIn this article, the main objective is construction of fractional Newton–Simpson-type inequalities with the concept of majorization. We established a new identity on estimates of definite integrals utilizing majorization and this identity will lead us to develop new generalized forms of prior estimates. Some basic inequalities such as Hölder’s, power-mean, and Young’s along with the Niezgoda–Jensen–Mercer inequality have been used to obtain new bounds and it has been determined that the main findings are generalizations of many results that exist in the literature. Applications to the quadrature rule are given as well. We make links between our findings and a number of well-known discoveries in the literature.