bluuebunny/crossref_metadata_2025_split huggingface dataset:
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
Authors: Dardis A. , Michelakakis H. , Rozenfeld P. , Fumic K. , Wagner J. , Pavan E. , Fuller M. , Revel-Vilk S. , Hughes D. , Cox T. , Aerts J. ,   the International Working Group of Gaucher Disease (IWGGD)
Published: December 2022

AbstractGaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its deacylated derivate, glucosylsphingosine (GlcSph). GCase is encoded by the GBA1 gene, located on chromosome 1q21 16 kb upstream from a highly homologous pseudogene. To date, more than 400 GBA1 pathogenic variants have been reported, many of them derived from recombination events between the gene and the pseudogene. In the last years, the increased access to new technologies has led to an exponential growth in the number of diagnostic laboratories offering GD testing. However, both biochemical and genetic diagnosis of GD are challenging and to date no specific evidence-based guidelines for the laboratory diagnosis of GD have been published. The objective of the guidelines presented here is to provide evidence-based recommendations for the technical implementation and interpretation of biochemical and genetic testing for the diagnosis of GD to ensure a timely and accurate diagnosis for patients with GD worldwide. The guidelines have been developed by members of the Diagnostic Working group of the International Working Group of Gaucher Disease (IWGGD), a non-profit network established to promote clinical and basic research into GD for the ultimate purpose of improving the lives of patients with this disease. One of the goals of the IWGGD is to support equitable access to diagnosis of GD and to standardize procedures to ensure an accurate diagnosis. Therefore, a guideline development group consisting of biochemists and geneticists working in the field of GD diagnosis was established and a list of topics to be discussed was selected. In these guidelines, twenty recommendations are provided based on information gathered through a systematic review of the literature and two different diagnostic algorithms are presented, considering the geographical differences in the access to diagnostic services. Besides, several gaps in the current diagnostic workflow were identified and actions to fulfill them were taken within the IWGGD. We believe that the implementation of recommendations provided in these guidelines will promote an equitable, timely and accurate diagnosis for patients with GD worldwide.
Trajectories of stressful life events and long-term changes in mental health outcomes, moderated by family functioning? the TRAILS study
Authors: Wijbenga Lisette , Reijneveld Sijmen A. , Almansa Josue , Korevaar Eliza L. , Hofstra Jacomijn , de Winter Andrea F. 
Published: December 2022

Abstract
Purpose
We assessed the association between trajectories of stressful life events (SLEs) throughout adolescence and changes in mental health from childhood to young adulthood. Further, we assessed whether family functioning moderated this association.

Methods
Data of the first six waves of the TRAILS study (2001-2016; n = 2229) were used, a cohort followed from approximately age 11 to 23. We measured SLEs (death of a family member or other beloved one, delinquency, moving, victim of violence, parental divorce, and sexual harassment) at ages 14, 16 and 19. Family functioning was measured at all six time points using the Family Assessment Device (FAD), and mental health was measured through the Youth/Adult Self-Report at ages 11 and 23. Latent class growth analyses (LCGA) were used to examine longitudinal trajectories and associations.

Results
We identified three SLE trajectories (low, middle, high) throughout adolescence, and found no significant associations between these trajectories and changes in mental health from childhood to young adulthood. Family functioning and SLE trajectories were significantly associated, however, the association of SLE trajectories and changes in mental health was not modified by family functioning. Mental health problems at age 11 increased the likelihood of high SLE trajectories during adolescence, and of experiencing negative family functioning.

Conclusion
Experiencing SLEs throughout adolescence does not have a direct impact on changes in mental health from childhood to young adulthood, but early adolescence mental health problems increase the likelihood of experiencing SLEs.
Fabricating a robust POSS-PCL nanofiber scaffold for nesting of mesenchymal stem cells: potential application in bone tissue regeneration
Authors: bagheri Leyla , Valizadeh Hasan , Dindar-safa Kazem , Zarghami Nosratollah 
Published: December 2022

Abstract
Background
According to recent studies, electrospun Poly (Ɛ-caprolactone) (PCL) is an absorbing candidate for the formulation of biocompatible scaffolds used in tissue engineering. Tissue engineering is a set of techniques for producing or reconstructing tissue, whose primary purpose is to restore or improve the function of tissues in the human body. Tissue engineering combines the principles of materials and cell transplantation to develop alternative tissues or promote endogenous regeneration. However, this electrospun scaffold, consisting of PCL, has disadvantages such as low cell adhesion, inactivity of the surface, osteoinduction, and acidic destruction of the scaffold that causes inflammation at the implant site, often making it unsuitable implant. This study aimed to improve PCL base cellular scaffolds with the formulation of polyhedral oligomeric silsesquioxane – Polycaprolactone (POSS-PCL) nanofiber scaffolds. The present research focuses on the synthesis of nanofibers for their cell interaction features, and application in bone tissue engineering and regeneration.

Results
POSS/ PCL Nanocomposites with 2, 5, and 10 wt.% of POSS were synthesized in the Trichloromethane, then POSS – PCL Nanofibers were prepared by the electrospinning technique. In this study, the structures of nanohybrids and nanofibers have been evaluated by FTIR, HNMR, XRD, SEM, EDX, and DSC. The biocompatibility of formulated POSS-PCL scaffolds was detected using mesenchymal stem cells (MSCs). Then several parameters were examined, involving DCFH ROS detection system, gene expression (cell viability/apoptosis, osteogenesis potentiality, and redox molecular homeostasis.

Conclusions
Based on our results, POSS-PCL nano-scaffolds in comparison with PCL have shown a robust potentiality in homing, growth, and differentiation of stem cells.

Graphical Abstract
Synthesis of POSS-PCL Nanofibers and their potential application in Bone Regeneration.
CBL0137 impairs homologous recombination repair and sensitizes high-grade serous ovarian carcinoma to PARP inhibitors
Authors: Lu Xue , He Yaowu , Johnston Rebecca L. , Nanayakarra Devathri , Sankarasubramanian Sivanandhini , Lopez J. Alejandro , Friedlander Michael , Kalimutho Murugan , Hooper John D. , Raninga Prahlad V. , Khanna Kum Kum 
Published: December 2022

Abstract
Background
High-grade serous ovarian carcinomas (HGSCs) are a heterogeneous subtype of epithelial ovarian cancers and include serous cancers arising in the fallopian tube and peritoneum. These cancers are now subdivided into homologous recombination repair (HR)-deficient and proficient subgroups as this classification impacts on management and prognosis. PARP inhibitors (PARPi) have shown significant clinical efficacy, particularly as maintenance therapy following response to platinum-based chemotherapy in BRCA-mutant or homologous recombination (HR)-deficient HGSCs in both the 1st and 2nd line settings. However, PARPi have limited clinical benefit in HR-proficient HGSCs which make up almost 50% of HGSC and improving outcomes in these patients is now a high priority due to the poor prognosis with ineffectiveness of the current standard of care. There are a number of potential lines of investigation including efforts in sensitizing HR-proficient tumors to PARPi. Herein, we aimed to develop a novel combination therapy by targeting SSRP1 using a small molecule inhibitor CBL0137 with PARPi in HR-proficient HGSCs.

Experimental design
We tested anti-cancer activity of CBL0137 monotherapy using a panel of HGSC cell lines and patient-derived tumor cells in vitro. RNA sequencing was used to map global transcriptomic changes in CBL0137-treated patient-derived HR-proficient HGSC cells. We tested efficacy of CBL0137 in combination with PARPi using HGSC cell lines and patient-derived tumor cells in vitro and in vivo.

Results
We show that SSRP1 inhibition using a small molecule, CBL0137, that traps SSRP1 onto chromatin, exerts a significant anti-growth activity in vitro against HGSC cell lines and patient-derived tumor cells, and also reduces tumor burden in vivo. CBL0137 induced DNA repair deficiency via inhibition of the HR repair pathway and sensitized SSRP1-high HR-proficient HGSC cell lines and patient-derived tumor cells/xenografts to the PARPi, Olaparib in vitro and in vivo. CBL0137 also enhanced the efficacy of DNA damaging platinum-based chemotherapy in HGSC patient-derived xenografts.

Conclusion
Our findings strongly suggest that combination of CBL0137 and PARP inhibition represents a novel therapeutic strategy for HR-proficient HGSCs that express high levels of SSRP1 and should be investigated in the clinic.
Assessment of selected interleukins (IL-6, IL-17A, IL-18, IL-23) and chemokines (RANTES, IP-10) in children with acute and chronic urticaria
Authors: Góra Anna , Przybył Maciej , Świętochowska Elżbieta , Machura Edyta 
Published: December 2022

Abstract
Background
Urticarial lesions develop as a result of the activation of mast cells which, through the release of mediators, influence the formation of local inflammatory infiltrates. Changes in the expression of many cytokines and chemokines are observed in the course of urticaria.
The aim of the study was to evaluate serum levels of interleukin (IL)-6, IL-17A, IL-18, IL-23, regulated on activation, normal T cell expressed and secreted (RANTES) and interferon (IFN)-γ-inducible protein-10 (IP-10) in children with acute urticaria and exacerbation of chronic urticaria in comparison to healthy volunteers. Moreover, we made an attempt to identify factors associated with the acute phase of urticaria and factors predicting the course of the disease among the studied parameters.

Methods
We retrospectively analyzed 32 children with acute urticaria and 32 children with chronic urticaria. The control group consisted of 40 healthy children. Each patient was clinically evaluated. Serum concentrations of selected cytokines and chemokines were determined by using enzyme-linked immunosorbent assay.

Results
Patients with acute and chronic urticaria had higher concentrations of IL-6 and IL-17A (p < 0.001) and lower concentrations of IL-18, IL-23, RANTES and IP-10 (p < 0.001) as compared to the control group. A significant association between IL-6 and IP-10 with the acute phase of urticaria has been demonstrated. There was no correlation of the studied cytokines and chemokines with disease activity.

Conclusions
In children with acute phase of urticaria, the cytokine serum concentration differs compared to healthy subjects. IL-6 and IP-10 seem to be useful in differentiating children with acute phase of urticaria and healthy ones. The search for factors predicting the course of the disease requires further studies.
Poisoning-related emergency department visits in children with autism spectrum disorder
Authors: Cornell Emma , Blanchard Ashley , Chihuri Stanford , DiGuiseppi Carolyn G. , Li Guohua 
Published: December 2022

Abstract
Background
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, and its prevalence has increased markedly in the past two decades. Research indicates that people with ASD are at increased risk for premature mortality from injuries. Often, children with ASD are prescribed multiple medications, increasing their risk for intentional and unintentional poisonings. We examined the epidemiologic patterns of emergency department (ED)-treated poisonings in children with ASD and the association of ED-treated poisonings with ASD according to common co-occurring conditions.

Methods
We analyzed data from the Nationwide Emergency Department Sample for 2016–2018 to estimate the frequencies of ED-treated poisonings among autistic children aged 1–20 years and adjusted odds ratios of ED-treated poisoning associated with ASD in the presence or absence of co-occurring attention-deficit hyperactivity disorder (ADHD) or intellectual disability (ID). The ICD-10-CM external cause-of-injury matrix was utilized to identify poisoning cases.

Results
During 2016–2018, there were an estimated 523,232 ED visits in children with ASD aged 1–20 years, including 12,152 (2.3%) visits for poisoning. Of ED-treated poisonings in children with ASD, 73.6% were related to pharmaceutical drugs, such as psychotropic medications and prescription opioids, 16.6% were intentional, 36.5% were unintentional, and 47.0% were undetermined. Among children with ASD, those aged 5–9 had the highest odds of poisoning-related ED visits compared to all other age-groups (adjusted OR = 3.41; 95% CI 3.15, 3.68). The odds of poisoning for children with ASD were 59.0% greater than for their peers (adjusted OR = 1.59; 95% CI 1.53, 1.66) and varied significantly with age and co-occurring ADHD or ID.

Conclusions
Children with ASD are at a significantly increased risk of poisoning, particularly among those aged 5–9 years. Co-occurring ADHD or ID with ASD further increases the risk of poisoning. Interventions to reduce poisoning in children with ASD should prioritize the safety of prescription medications.
Open-access tools for the modelling and simulation of electricity markets
Authors: Carvalho Rui , Santos Gabriel , Vale Zita 
Published: December 2022

AbstractGlobally, the amount of renewable energy generation is increasing, which raises the complexity of operating electrical grids to maintain stability and balance and boosts the need for developing new electricity market (EM) models fitting this new reality. To test, study, and validate the possible effects of novel EM designs, simulation techniques are frequently employed. This work proposes the use of two open-access tools for the modeling and simulation of complex EMs. These are the Electricity Markets Service (EMS) and the Spine Toolbox. EMS enables the simulation of two commonly used auction-based algorithms and the execution of three European wholesale EMs. Being published as a web service facilitates its integration with other services, systems, or software agents, such as the Spine Toolbox. The Spine Toolbox, in turn, is an open-source software for complex energy systems modeling. Combining them allows the modeling and simulation of complex EMs from the wholesale to local markets, as well as testing and validating new market designs. This work’s case study demonstrates how to use these tools to simulate the operation of the Iberian EM – MIBEL – for a month, using public data available from the market operator’s website. The results are analyzed from the perspective of the market operator and two players, i.e., a selected buyer and seller, for a specific day and the whole month.
Automatic optimal multi-energy management of smart homes
Authors: Fiorini Laura , Aiello Marco 
Published: December 2022

AbstractResidential and commercial buildings are responsible for approximately 35% of carbon emissions in industrialized countries. Making buildings more efficient and sustainable is, therefore, a fundamental step toward a low-carbon energy society. A key to achieving sustainability is by leveraging on energy storage systems and smart technologies to switch between energy carriers in order to optimize environmental impact. However, the research on energy management in buildings has mostly focused on its economic aspect, overlooking the environmental dimension. Additionally, the concept of energy system flexibility has been mostly proposed as the ability to shift demand over time or, at most, to curtail it, aiming at reducing the system’s operating costs. We propose a multi-energy multi-objective scheduling model to optimally manage the supply, demand, and interchange of multiple energy carriers, based on dynamic price and carbon emission signals. Our holistic and integrated approach is applied to a group of 200 smart homes with varying thermal and electric loads, and equipped with different types of smart technologies. The effectiveness of the approach in reducing the home carbon footprint, while remunerating the users, is evaluated using historical and statistical data of three European countries.
Heart rate variability among gym-goers and age-matched sedentary individuals
Authors: Ashok C. , Anandhi D. , Jayakumar B. , Jawahar V. 
Published: December 2022

Abstract
Background
The physiological phenomenon of variation in relation to the time interval between two consecutive heartbeats is described as heart rate variability (HRV). Any increase in HRV is associated with good fitness and health and vice versa. The aim of this study is to find and compare the HRV, sympathetic and parasympathetic nervous system dominance in gym-goers, and sedentary individuals.

Methodology
A cross-sectional study was conducted among 10 gym-goers and 10 sedentary individuals, aged 18–22 years. The HRV was determined by the elite HRV (mobile application) and Kubios software.

Outcome measure
HRV

Result
The median values of HRV
and LF/HF(Low Frequency/High Frequency) ratio for Gym goers is 57.5 & 1.85
whereas for a sedentary individual is 54.5 & 2.6.

Conclusion
This study concluded that age-matched sedentary individuals have more SNS dominance than in gym-goers. Likewise, PNS dominance is higher in gym-goers than sedentary individuals, but it is not statistically significant (p > 0.05).
Genetic-evolutionary adaptive moment estimation-based semisupervised deep sequential convolution network for seismic impedance inversion: Application and uncertainty analysis
Authors: Dixit Anjali , Mandal Animesh , Ganguli Shib Sankar , Sanyal Subhajit 
Published: December 2022

Recent developments in deep learning have shown significant improvement in the accuracy of acoustic impedance inversion results. However, the conventional gradient-based optimizers such as the root-mean-square propagation, the momentum, the adaptive moment estimation (ADAM), etc., used in the deep learning framework, inherently tend to converge at the nearest optimum point, thereby compromising the solution by not attaining the global minimum. We apply a hybrid global optimizer, genetic-evolutionary ADAM (GADAM) to address the issue of convergence at a local optimum in a semisupervised deep sequential convolution network-based learning framework to solve the nonconvex seismic impedance inversion problem. GADAM combines the advantages of adaptive learning of ADAM and genetic evolution of genetic algorithm, which facilitates faster convergence, and avoids sinking into the local minima. The efficacy of GADAM is tested on synthetic benchmark data and field examples. The results are compared with that obtained from a widely used ADAM optimizer and conventional least-squares method. In addition, uncertainty analysis is performed to check the implication of the optimizer’s choice in obtaining efficient and accurate seismic impedance values. Results find that the level of uncertainty and minima of loss function attained using the GADAM optimizer are comparatively lower than that for ADAM. Thus, we demonstrate that the hybrid optimizer, i.e., GADAM is more efficient than the extensively used ADAM optimizer in impedance estimation from seismic data in a deep learning framework.
Circulating Tumor DNA Profiling for Detection, Risk Stratification, and Classification of Brain Lymphomas
Authors: Mutter Jurik A. , Alig Stefan K. , Esfahani Mohammad S. , Lauer Eliza M. , Mitschke Jan , Kurtz David M. , Kühn Julia , Bleul Sabine , Olsen Mari , Liu Chih Long , Jin Michael C. , Macaulay Charles W. , Neidert Nicolas , Volk Timo , Eisenblaetter Michel , Rauer Sebastian , Heiland Dieter H. , Finke Jürgen , Duyster Justus , Wehrle Julius , Prinz Marco , Illerhaus Gerald , Reinacher Peter C. , Schorb Elisabeth , Diehn Maximilian , Alizadeh Ash A. , Scherer Florian 
Published: December 2022

PURPOSE Clinical outcomes of patients with CNS lymphomas (CNSLs) are remarkably heterogeneous, yet identification of patients at high risk for treatment failure is challenging. Furthermore, CNSL diagnosis often remains unconfirmed because of contraindications for invasive stereotactic biopsies. Therefore, improved biomarkers are needed to better stratify patients into risk groups, predict treatment response, and noninvasively identify CNSL. PATIENTS AND METHODS We explored the value of circulating tumor DNA (ctDNA) for early outcome prediction, measurable residual disease monitoring, and surgery-free CNSL identification by applying ultrasensitive targeted next-generation sequencing to a total of 306 tumor, plasma, and CSF specimens from 136 patients with brain cancers, including 92 patients with CNSL. RESULTS Before therapy, ctDNA was detectable in 78% of plasma and 100% of CSF samples. Patients with positive ctDNA in pretreatment plasma had significantly shorter progression-free survival (PFS, P < .0001, log-rank test) and overall survival (OS, P = .0001, log-rank test). In multivariate analyses including established clinical and radiographic risk factors, pretreatment plasma ctDNA concentrations were independently prognostic of clinical outcomes (PFS HR, 1.4; 95% CI, 1.0 to 1.9; P = .03; OS HR, 1.6; 95% CI, 1.1 to 2.2; P = .006). Moreover, measurable residual disease detection by plasma ctDNA monitoring during treatment identified patients with particularly poor prognosis following curative-intent immunochemotherapy (PFS, P = .0002; OS, P = .004, log-rank test). Finally, we developed a proof-of-principle machine learning approach for biopsy-free CNSL identification from ctDNA, showing sensitivities of 59% (CSF) and 25% (plasma) with high positive predictive value. CONCLUSION We demonstrate robust and ultrasensitive detection of ctDNA at various disease milestones in CNSL. Our findings highlight the role of ctDNA as a noninvasive biomarker and its potential value for personalized risk stratification and treatment guidance in patients with CNSL. [Media: see text]
Dynamical vertex correction to the generalized Kadanoff-Baym Ansatz
Authors: Kalvová A. , Špička V. , Velický B. , Lipavský P. 
Published: December 2022

Abstract
The generalized Kadanoff-Baym Ansatz, used to simplify the non-equilibrium Green's functions to the kinetic equation for the density matrix, leads to an incorrect dynamics of a system if the self-energy has a rich energy spectrum. We propose an approximation of the vertex correction which dynamically changes with the density matrix while it benefits from simplicity of stationary propagators. On the molecular bridge between ferromagnetic leads, we demonstrate that this simple vertex fixes the failure of the kinetic equation on a negligible computational cost.