bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical, Immunological and Molecular Findings of Patients with Severe Combined Immunodeficiency: Introducing of 7 Novel Mutations in 7 Genes
Authors: Alizadeh Zahra , Fazlollahi Mohammad Reza , Mazinani Marzieh , Badalzadeh Mohsen , Heydarlou Hanieh , Carapito Raphael , Molitor Anne , de Oteyza Andrés Caballero Garcia , Proietti Michele , bavani Maryam Soleimani , Shariat Mansoureh , Fallahpour Morteza , Movahedi Masoud , Moradi Leila , Grimbacher Bodo , Bahram Siamak , Pourpak Zahra 
Published: June 2022

Abstract
Purpose
Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune system associated with life-threatening infections. This disorder is characterized by diminished cellular and humoral immunity. A variable phenotype, including atypical and leaky SCID cases, as well as the heterogeneity in its genetic basis, may lead to a significant delay in diagnosis. Therefore, early diagnosis of SCID patients is crucial. Here, we describe the clinical manifestations and genetic results of four patients with SCID and four patients with atypical SCID.
Methods
Eight patients, who were clinically suspected to SCID, underwent immunological evaluations and genetic studies. Whole Exome Sequencing (WES) was used to identify the most relevant genetic defects which are responsible for the patients’ clinical phenotype. Further, the identified mutations were evaluated by Sanger sequencing in patients and their parents.
Results
All patients (4 males and 4 females) presented SCID phenotype in early infancy within 6 months of life. We found eight mutations, including two novel mutations in RAG2 (p.I273T, p.G44X), a novel 2-bp deletion in IL7R (p.F361WfsX17), a novel 2-bp deletion in LAT (p.Y207fs), a novel mutation in ADA (c.780 + 1G > A), a novel mutation in JAK3 (p.Q228Ter), a novel mutation in LIG4 (p.G428R), and also a previously reported missense mutation in RAG1 (p.A444V). All patients were homozygous, and their parents were heterozygous.
Conclusion
The results of our study expand the clinical and molecular spectrum associated with SCID and leaky SCID phenotypes and provide valuable information for the clinical management of our patients.
Post-pollination endogenous phytohormone levels in reproductive organs in 2 interspecific Arachis crosses differing in compatibility
Authors: Li Jia Kai , Wang Zhi Wei , Yang Zhen , Song Guo Sheng , Wang Xiu Zhen , Wang Chuan Tang 
Published: June 2022

Abstract
Wild Arachis species are of great value to the genetic improvement of the cultivated peanut; however, incompatibility hinders the utilization of the species outside section Arachis. Endogenous phytohormone imbalance was hypothesized but is yet to be confirmed. Using UPLC-ESI-MS/MS, we were able to determine the phytohormone levels in flower bases 3 days after pollination and pegs/pods 5 and 10 days after soil penetration. The results showed that as far as the significantly changed phytohormones were considered, with the advancement of reproductive development, the proportion of down-regulated auxins and cytokinins gradually increased. Significantly reduced levels of gibberellins in pegs/pods were also recorded. The study suggested that to get desirable results in overcoming incompatible obstacles in wide crosses in Arachis, early post-pollination application of hormone mixtures incorporating auxins, cytokinins and gibberellins should be beneficial.
Sex Differences in Association between Abdominal Obesity and Cardiovascular Death in Patients with Permanent Pacemaker Implantation: a Retrospective Cohort Study
Authors: Xue Xiaodi , Li Xiaoyao , Zhao Shuang , Chen Keping , Hua Wei , Su Yangang , Liang Zhaoguang , Xu Wei , Zhang Shu 
Published: June 2022

Abstract
Objective
This study aimed to explore the associations between abdominal obesity and cardiovascular death (CVD) in patients with permanent pacemakers (PPMs) implantation and to investigate the role of gender on the possible associations. In this regard, this study investigated the association between waist circumference (WC) and cardiovascular death in patients with permanent pacemakers (PPMs) implantation.
Methods
This was a retrospective cohort study that included the data of patients who underwent PPMs implantation in Fuwai Hospital, China from May 2010 to April 2014 using BIOTRONIK Home Monitoring® database. Waist circumference was classified into sex-specific quartiles and patients were divided into three groups according to their body mass index (BMI) values: normal (≤ 22.9 kg/m2), overweight (23–24.9 kg/m2), and obese (≥ b25 kg/m2). Cox proportional hazards models were used to calculate the hazard ratios and 95% confidence intervals for cardiovascular death based on the patient’s WC and BMI.
Results
A total of 492 patients with PPMs implantation were analyzed (mean age: 71.9 ± 10.8 years; 55.1% men [n = 271]). Data showed that after a mean follow-up period of 67.2 ± 17.5 months, 24 (4.9%) patients had experienced cardiovascular death and 71 (14.4%) were cases of all-cause mortality. The men in the third quartile of WC had a hazard ratio (HR) of 10.67 (Model 4, 95% CI: 1.00–115.21, P-trend = 0.04) for cardiovascular death. However, the association disappeared in the women patients (Model 4, HR = 3.99, 95% CI: 0.37–42.87, P-trend = 0.25). No association was found between BMI and cardiovascular death or all-cause mortality in both men and women patients.
Conclusions
Abdominal obesity was associated with an increased risk of cardiovascular death in patients with PPMs and this association is gender dependence where only men patients show this association.
A national survey of sedation practice and clinicians’ attitudes regarding sedation-related research in United Kingdom paediatric intensive care units
Authors: Mitting Rebecca , Tume Lyvonne M , Ramnarayan Padmanabhan 
Published: June 2022

Abstract
PurposeResearch involving analgo-sedation is a priority for both parents and professionals in paediatric intensive care, and guidelines are based on low quality evidence. Previous attempts at large-scale trials have faced recruitment challenges. Future research will require an understanding of current practice, research priorities of healthcare professionals and acceptability to parents. This survey aimed to describe current United Kingdom analgo-sedation practice, assess priorities for future research and identify perceived barriers to trials. MethodsA 26-question web-based survey was emailed to all Paediatric Critical Care Society members (n=1000) in April/May 2021. Responses were analysed both by ‘unit’ or at individual respondent level. Questions related to 4 patient categories: ‘neonatal (< 3 months of age) ‘paediatric’ > 3 months of age, ‘cardiac’ and ‘non-cardiac’.ResultsTwo hundred and sixteen healthcare professionals answered at least one question and responses were available from 100% of UK paediatric intensive care units (n=29) for all questions. Most units (96%, 28/29) routinely use scoring systems for sedation adequacy and presence of withdrawal (72%, 21/29), but few routinely screen for delirium (24%, 7/29). The most highly prioritised outcome measure for future trials was duration of mechanical ventilation. Respondents were most likely to agree to randomise paediatric general intensive care patients to trials comparing two different alpha agonists, and least likely to randomise neonatal cardiac patients to trials comparing benzodiazepines with alpha agonists. The most common perceived barrier to research was unit preference or familiarity with a particular regimen, followed by the perception that parents would not provide consent.ConclusionsThis study provides a snapshot of current United Kingdom analgo-sedation practice, and highlights the importance of parent/patient involvement in planning future trials.
In-vitro NLRP3 functional test assists the diagnosis and therapeutic choice of cryopyrin-associated periodic syndrome (CAPS) patients: a Brazilian cooperation
Authors: Mendonca Leonardo Oliveira , Toledo-Barros Myrthes Anna Maragna , Leal Vinicius Nunes Cordeiro , Roa Mariela Estefany Gislene Vera , Cambuí Raylane C , Toledo Eliana , Barros Samar Freschi , Melato Amanda de Oliveira , Rivitti-Machado Maria Cecília , Francescantonio Isadora Carvalho Medeiros , Grumach Anete Sevciovic , Cunha Ana Luiza , Penido Norma de Oliveira , Castro Fabio Fernandes Morato , Kalil Jorge , Pontillo Alessandra 
Published: June 2022

Abstract
Objective To report our five-years experience on the use of NLRP3 inflammasome functional assays in the differential diagnosis of Brazilian patients with a clinical suspicion of CAPS. Patients and methods: The study included 9 patients belonging to 2 families (I, II) and 7 unrelated patients with a clinical suspicion of AID according to Eurofever/PRINTO classification, recruited between 2017 and 2022. The control group for the NLRP3 functional assay consisted of 10 healthy donors and for the CBA cytokines measurement of 19 healthy controls. Patients underwent clinical evaluation, genetic and functional analysis. Results: All members of the family I received the diagnosis of Muckle-Wells Syndrome (MWS), carried the NLRP3 Thr348Met variant and resulted positive for the functional assay. The 2 patients of the family II resulted negative for the mutational screening but positive for the functional assay compatible with a MWS clinical phenotype. In 2 unrelated patients with NLRP3 mutations, including a novel mutation (​​Gly309Val, Asp303His), a positive functional test confirmed the clinical diagnosis of NOMID. 3 unrelated MWS and 1 FCAS patients resulted negative to the genetic screening and positive for the functional test. One patient with a FCAS-like phenotype harbored the NLRP12 His304Tyr variant confirming the diagnosis of FCAS2. Conclusion: The NLRP3 inflammasome functional assay can assist the clinical diagnosis of CAPS even in patients with unknown genetic defects.
Effects of Substrate Bias on the Sputtering of High Density (111)- Nanotwinned Cu films on SiC Chips
Authors: Yang Zi-Hong , Lee Pei-Ing , Chuang Tung-Han 
Published: June 2022

Abstract
This article presents a study of the influence of the substrate bias on the microstructure, preferred orientation, and mechanical and electrical properties of nanotwinned Cu film. The formation of a nanotwinned structure and (111) surface orientation can be properly controlled by applied substrate bias. High density nanotwinned structures were introduced into Cu films sputtered on SiC substrates with over 90% of (111)-orientation at -150 V. Densely packed Cu nanotwins were observed within the columnar grains stacked up on each other along the film growth direction, with an average twin spacing of 19.4 nm. The Cu films deposited on SiC substrate via bias sputtering had surface roughness of 8.6 to 15.8 nm. The sheet resistivity of the copper nanotwinned film increased with nanotwin density. The optimal indentation, 2.3 GPa, was found in the nanotwinned Cu film sputtered with a bias voltage of -150 V. The effects of Ar ion bombardment on microstructure, surface morphology and properties are further discussed.
Geotechnical Assessment Using Kinematic Analysis for an Unstable Road Cut, Along Haibat Sultan Mountain, Iraqi Kurdistan Region
Authors: Sissakian Varoujan K. , Vanarelli Mark J. , Jassim Hamed M. , Omer Hassan O. 
Published: June 2022

Abstract
There are many hazardous roads in the Iraqi Kurdistan Region (IKR) which traverse through mountainous terrains. One of these roads was selected for a geotechnical assessment in this paper. The road crosses the Haibat Sultan Mountain, north of Koya town in IKR; it is one of the most dangerous roads in this region. Annually, traffic is blocked by various types of slope failures along this road. There are numerous observed examples where bedding planes in the slope face daylight next to the road. To assess the road geotechnically, several stations of the Haibat Sultan Crossing road were studied to determine their stability using the Kinematic Analysis Method. A total of 11 stations were identified with the highest potential for slope failure. It was determined that only four stations (Nos. 4, 5, 7 and 9) could be evaluated using kinematic analyses. The kinematic analyses for the four stations were performed using DipAnalyst 2.0 software. The analyses identified the potential failure areas and their factors of safety (F.S.). The factors of safety at these four stations were calculated and ranged between 0.66 – 0.85 indicating unstable slopes. Based on this information, remedial measures were recommended at these locations and along associated sections of the road.
Hollow Spherical Hierarchical MoO 3 /SiO 2 –TiO 2 Structures for Photocatalytic Decomposition of Organic Pollutant in Water
Authors: Kuznetsova Svetlana A. , Khalipova Olga S. , Lisitsa Konstantin V. , Selunina Liliya A. , Khasanov Victor V. , Malchik Alexandra G. , Chen Yu-Wen 
Published: June 2022

Abstract
MoO3/TiO2–SiO2 layered spherical composites with hierarchical structures have been synthesized via a template and sol-gel methods in which TOKEM-320Y anion exchanger was used as template. The properties of MoO3/TiO2–SiO2 spherical composites were characterized by X-ray diffraction, Scanning electron microscopy, Energy-dispersive X-ray spectroscopy, 3D X-ray microtomography, N2 sorption, Infrared and Raman spectroscopies and ultraviolet spectrophotometry. The photocatalytic activity of MoO3/TiO2–SiO2 composites was evaluated by photocatalytic degradation of methylene blue (MB) aqueous solution under irradiated with an I2 excilamp (λmax = 312 nm) and its photoabsorption energy properties are related to the interaction between TiO2–SiO2 and MoO3 which occurs through oxygen in Ti-O-Mo and Si-O-Mo. The layered hierarchical structure results in lower oxygen vacancy concentrations in composites (0.0425) and a reduced bandgap width (2.58 eV in compare to 3.18 eV for MoO3 spheres), which increases the composite's absorption of light in the visible light regime (λ absorption edge is 480.5 nm). Photocatalytic degradation of the MB dye followed the pseudo-first-order-kinetics. Degradation product analysis was done using the HPLC-MS technique. The dye degradation is initiated by demethylation of the molecule and lead to formation of azure A, B and C and thionin. The results showed that MoO3/TiO2–SiO2 composites exhibited a much higher photocatalytic activity (rate constant is 0.0645 min‒1) than that of MoO3 spheres and other MoO3 samples in the literature. This investigation demonstrates that MoO3/TiO2–SiO2 layered spherical composites is a promising candidate material for photocatalytic decomposition of organic dyes in textile waste water which are considered as one of the greatest threats to the environment.
CLIC1 mediated autophagy confers resistance to DDP in gastric cancer
Authors: Nong Zhen-liang , Zhao Kun , Wang Ye , Yu Zhu , Wang Chong-jun , Huang Wei-jia , Chen Jun-qiang 
Published: June 2022

Abstract
As one of the most ordinary malignant tumors worldwide, gastric cancer has been concerned by researchers all the year round. The treatment of gastric cancer includes surgery, chemotherapy, and traditional Chinese medicine. Chemotherapy is an effective treatment for patients with advanced gastric cancer. As a critical chemotherapeutic drug, DDP has been approved to treat many kinds of solid tumors. Although DDP is an effective chemotherapeutic agent, many patients develop drug resistance in treatment, which has become a severe problem in clinical chemotherapy. This study aimed to research the mechanism of DDP resistance in gastric cancer. The results showed that compared to the parental cells, CLIC1 expression was increased in AGS/DDP and MKN28/DDP, and autophagy was activated. In addition, the sensitiveness of gastric cancer cells to DDP was decreased compared to the control group, and the autophagy was enhanced after overexpression of CLIC1. Conversely, gastric cancer cells were more sensitive to cisplatin after transfection of CLIC1siRNA or treatment with autophagy inhibitors. These experiments suggested that CLIC1 could alter the sensitiveness of gastric cancer cells to DDP by activating autophagy. Overall, the results of this study recommend a novel mechanism of DDP resistance in gastric cancer.
Bifrontal-parietal Ratio: A Novel Risk Factor for Cerebrospinal Fluid Overdrainage After Ventriculoperitoneal Shunting
Authors: Chaisawasthomrong Chonnawee , Saetia Kriangsak 
Published: June 2022

Abstract
Objective: This study aimed to examine potential risk factors associated with cerebrospinal fluid overdrainage after ventriculoperitoneal (VP) shunting. Methods: We retrospectively examined the medical records of hydrocephalus patients who underwent VP shunting at a single institution between January 2011 and December 2017 and had a minimum 3-year follow-up. Variables studied included age, gender, hydrocephalus etiology, symptoms, shunt valve, ventricular catheter entry point, and neurosurgical history, including history of external ventricular drainage. Radiographic variables included Evans index, bicaudate index, callosal angle, measurements of frontal lobe thickness, and bifrontal-parietal ratio. Results: Among the 182 study patients, 11 experienced overdrainage. Age, gender, etiology, symptoms, and surgical history did not significantly differ between patients who experienced overdrainage and those who did not. Evans index, bicaudate index, and callosal angle did not significantly differ between the groups. Measurements of frontal lobe thickness and bifrontal-parietal ratio were significantly lower in the overdrainage group. Conclusion: Bifrontal-parietal ratio may be useful to predict overdrainage after VP shunt surgery.
First Record of Two Egyptian Fungal Genera; The Myxomycete: Lepidoderma carestianum and the Ascomycete: Arthrinium bambusicola
Authors: El-Debaiky Samah A. , Mahmoud Yehia A.G. 
Published: June 2022

Abstract
Background: Slime molds (Myxomycetes) considered a separate group of protozoal organisms, related to rhizopoda and primitive fungi. They are characterized by forming large multinuclear plasmodia devoid of cell walls and their complex life cycles. On the other hand, ascomycetous fungi are considered large group which includes diversity of fungal genera ranged between pathogenic and saprophytic habitat. Results: The tested fungi, Lepidoderma carestianum which belongs to (Myxogastria, Amoebozoa) and the ascomycetous fungus; Arthrinium bambusicola were recorded for the first time in Egypt. Detailed morphological description and microscopic examination for these fungi were exhibited in this study. Conclusions: Sporocarp of L. carestianum was appeared at cold climate at November 2021 on the surface of cultivated soil while, A. bambusicola was isolated from dead branch of Melia azedarach tree on PDA medium as a saprobe. The most obvious feature of the isolate colony was the presence of the black colour regions due to conidiomata embedded in the white mycelia. The fungal conidia are distinguished by dark brown colour, oval shaped with tapered ends. The definition of the tested Lepidoderma and Arthrinium species was confirmed by molecular characterization using COIF1/COIR1 primers for Lepidoderma and ITS1 and ITS4 primers for Arthrinium.
Climate Change and Its Impact on Agricultural GDP Growth in Ethiopia: a Time Series Analysis
Authors: Mammo Behailu 
Published: June 2022

Abstract
Climate change is now a global phenomenon with growth, poverty, food security, and stability implications, and is one of the greatest challenges the world is facing today. The economic impact of climate change mainly depends on the sectoral composition of the economy. That is certain sectors like agriculture are more sensitive to climate change and the associated variability. The main objective of this paper is to investigate the impact of climate change on agricultural gross domestic product growth in Ethiopia. This study uses time-series annual data from 1992/93to 2017/18 and, an effort is made to identify the long run and short-run impact of climate change in Ethiopia using an autoregressive distributed lag (ARDL) and error correction methods. The results of the study provide evidence that climate change and variability affect real agricultural gross domestic product growth negatively in the long run. The coefficient of the error term that captures the speed of adjustment toward the long-run equilibrium is found with the correct sign and magnitude. The overall findings of the study underlined the importance of building resilience to climate change and minimizing the adverse impacts of climate change to promote agricultural output and hence economic growth in Ethiopia.
Addressing the Uncertainty in Urban Traffic Prediction via Bayesian Graph Neural Network
Authors: Guo Ziyu , Liu Shijun , Pan Li , Li Qian 
Published: June 2022

Abstract
With the growth of intelligent transportation, reliable urban traffic prediction has become increasingly important in people’s lives. It does, however, confront the following challenges: First, the structure of traffic networks is usually constructed by researchers using domain knowledge , which is thus frequently uncertain. Second, the spatio-temporal dependence is complex, which is embodied in that the influence weights of various nearby roads section are uncertain and the status of roads section changes over time. Thus, even though the network structure is fully known, the spatio-temporal dependencies between roads’ sections are uncertain. However, to the best of our knowledge, few existing works have been able to address all challenges, and the performance of existing methods can be further improved. In this paper, the motivation is to address the uncertainty of traffic network in terms of connectivity and the dependency among nodes. Thus, we propose a Bayesian Spatio-Temporal Graph Attention Neural Networks (BST-GAT), which uses Bayesian theorem and a random block model of mixed membership to reconstruct the network during the neighborhood aggregation process to address the uncertainty of the network structure. In addition, BSTGAT uses the attention mechanism and RNN to address the uncertainty of the spatio-temporal dependence. Extensive experiments on two benchmark datasets demonstrate that BSTGAT is capable of effectively solving the uncertainty of the network structure and spatio-temporal dependencies, and it significantly outper-forms state-of-the-art model due to its higher effect and robustness.