bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations
Authors: Jeong Dajeong , Kim Sung-Min , Min Byung Joo , Kim Ju Han , Ju Young Seok , Ahn Yong-Oon , Yun Jiwon , Lee Young Eun , Kwon Seok Ryun , Park Jae Hyeon , Yoon Jong Hyun , Lee Dong Soon 
Published: May 2022

AbstractCongenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients in the context of bone marrow (BM) histology and clinical phenotype. Whole-exome sequencing (WES) or targeted sequencing was performed on the BM or peripheral blood specimens of 16 patients diagnosed with CN based on BM exam from 2009 to 2018. Absolute count of myeloperoxidase (MPO)-positive cells was calculated using ImageJ software. Semi-quantitation of MPO-positive cells in BM sections was performed by MPO grading (grades 0–3). Comprehensive retrospective review on real-world data of 345 pediatric patients with neutropenia including 16 patients in this study during the same period was performed. Seven disease-causing variants were identified in ELANE, G6PC3 and CXCR4 in 7 patients. A novel homozygous G6PC3 variant (K72fs) of which the mechanism was copy-neutral loss of heterozygosity was detected in two brothers. A low myeloid-to-erythroid ratio (0.5–1.5) was consistently observed in patients with ELANE mutations, while MPO-positive cells (40%–50%) with MPO grade 1 or 2 were detected in myelokathexis caused by G6PC3 and CXCR4 mutations. Meanwhile, disease-causing variants were detected in ELANE, TAZ and SLC37A4 in 5 patients by retrospective review of medical records. Our results suggest that following the immunological study and BM exam, WES or an expanded next generation sequencing panel that covers genes related to immunodeficiency and other inherited bone marrow failures as well as CN is recommended for neutropenia patient diagnosis.
Bioinformatic analyses to uncover genes involved in trehalose metabolism in the polyploid sugarcane
Authors: de Oliveira Lauana Pereira , Navarro Bruno Viana , de Jesus Pereira João Pedro , Lopes Adriana Rios , Martins Marina C. M. , Riaño-Pachón Diego Mauricio , Buckeridge Marcos Silveira 
Published: May 2022

AbstractTrehalose-6-phosphate (T6P) is an intermediate of trehalose biosynthesis that plays an essential role in plant metabolism and development. Here, we comprehensively analyzed sequences from enzymes of trehalose metabolism in sugarcane, one of the main crops used for bioenergy production. We identified protein domains, phylogeny, and in silico expression levels for all classes of enzymes. However, post-translational modifications and residues involved in catalysis and substrate binding were analyzed only in trehalose-6-phosphate synthase (TPS) sequences. We retrieved 71 putative full-length TPS, 93 trehalose-6-phosphate phosphatase (TPP), and 3 trehalase (TRE) of sugarcane, showing all their conserved domains, respectively. Putative TPS (Classes I and II) and TPP sugarcane sequences were categorized into well-known groups reported in the literature. We measured the expression levels of the sequences from one sugarcane leaf transcriptomic dataset. Furthermore, TPS Class I has specific N-glycosylation sites inserted in conserved motifs and carries catalytic and binding residues in its TPS domain. Some of these residues are mutated in TPS Class II members, which implies loss of enzyme activity. Our approach retrieved many homo(eo)logous sequences for genes involved in trehalose metabolism, paving the way to discover the role of T6P signaling in sugarcane.
Oxime derivative TFOBO promotes cell death by modulating reactive oxygen species and regulating NADPH oxidase activity in myeloid leukemia
Authors: Jo Ahyoung , Kwak Jae-Hwan , Woo Soo-Yeon , Kim Bo-Young , Son Yonghae , Choi Hee-Seon , Kim Jayoung , Kwon Munju , Cho Hyok-Rae , Eo Seong-Kug , Nam Ji Ho , Kim Hyung-Sik , Baryawno Ninib , Lee Dongjun , Kim Koanhoi 
Published: May 2022

AbstractSeveral derivatives derived from the oxime structure have been reported as potential anticancer agents in various cancers. Here, we first tested a novel oxime-containing derivative of 2-((2,4,5-trifluorobenzyl)oxy)benzaldehyde oxime (TFOBO) to evaluate its anticancer effect in myeloid leukemic cells. Compared to (2-((2,4,5-trifluorobenzyl)oxy)phenyl)methanol (TFOPM), the oxime derivative TFOBO suppresses leukemic cell growth by significantly increasing reactive oxygen species (ROS) levels and cell death. Leukemic cells treated with TFOBO displayed apoptotic cell death, as indicated by nuclear condensation, DNA fragmentation, and annexin V staining. TFOBO increases Bax/Bcl2 levels, caspase9, and caspase3/7 activity and decreases mitochondrial membrane potential. ROS production was reduced by N-acetyl-l-cysteine, a ROS scavenger, diphenyleneiodonium chloride, a nicotinamide adenine dinucleotide phosphate (NADPH) oxidase inhibitor, after exogenous TFOBO treatment. ROS inhibitors protect leukemic cells from TFOBO-induced cell death. Thus, our study findings suggest that TFOBO promotes apoptosis by modulating ROS and regulating NADPH oxidase activity. Collectively, the oxime-containing derivative TFOBO is a novel therapeutic drug for myeloid leukemia.
Cu and Ni Co-sputtered heteroatomic thin film for enhanced nonenzymatic glucose detection
Authors: Barbee Brianna , Muchharla Baleeswaraiah , Adedeji Adetayo , Karoui Abdennaceur , Kumar Sadasivuni Kishor , Sha Mizaj Shabil , Abdullah Aboubakr M. , Slaughter Gymama , Kumar Bijandra 
Published: May 2022

AbstractIn this work, we report a wafer-scale and chemical-free fabrication of nickel (Ni) and copper (Cu) heteroatomic Cu–Ni thin films using RF magnetron sputtering technique for non-enzymatic glucose sensing application. The as-prepared wafer-scale Cu–Ni thin films exhibits excellent electrocatalytic activity toward glucose oxidation with a 1.86 μM detection limit in the range of 0.01 mM to 20 mM range. The Cu–Ni film shows 1.3- and 5.4-times higher glucose oxidation activity in comparison to the Cu and Ni electrodes, respectively. The improved electrocatalytic activity is attributed to the synergistic effect of the bimetallic catalyst and high density of grain boundaries. The Cu–Ni electrodes also possessed excellent anti-interference characteristics. These results indicate that Cu–Ni heteroatomic thin film can be a potential candidate for the development of non-enzymatic glucose biosensor because of its chemical free synthesis, excellent reproducibility, reusability, and long-term stability.
A randomized controlled trial of the effects of whole grains versus refined grains diets on the microbiome in pregnancy
Authors: Sun Haipeng , Yamada Pamella , Paetow Alexandra , Chan Michael , Arslan Alan , Landberg Rikard , Dominguez-Bello Maria Gloria , Young Bruce K. 
Published: May 2022

AbstractDietary whole grain consumption has been postulated to have metabolic benefits. The purpose of this study was to compare a pregnancy diet containing 75% of total carbohydrates as refined grains with a diet of 75% of total carbohydrates as whole grains for pregnancy outcomes and effects on the microbiome. Gestational weight gain, glucose tolerance and newborn outcomes were measured on 248 enrolled compliant women from whom a subset of 103 women consented to give 108 vaginal and 109 anal swabs. The data presented here are limited to the patients from whom the vaginal and anal swabs were obtained in order to study the microbiome. A microbiome—16SrRNA survey—was characterized in these samples. Samples and measurements were obtained at the first obstetrical visit, before beginning a prescribed diet (T1—baseline) and after 17–32 weeks on the prescribed diet (T3). Food frequency questionnaires and total plasma alkylresorcinols were used as a measure of whole grain consumption. There were no dietary differences in maternal weight gain, birth weight, or glucose tolerance test. Mothers consuming the whole grains diet showed a trend of gestational decrease in vaginal bacterial alpha diversity, with increasing Lactobacillus-dominance. No significant difference was observed for the anal microbiome. The results suggest that diet modulations of the vaginal microbiome during gestation may have important implications for maternal and neonatal health and in the intergenerational transfer of maternal microbiome. Trial registration: ClinicalTrials.gov Identifier: NCT03232762.
The footprint of ship anchoring on the seafloor
Authors: Watson Sally J. , Ribó Marta , Seabrook Sarah , Strachan Lorna J. , Hale Rachel , Lamarche Geoffroy 
Published: May 2022

AbstractWith the COVID-19 pandemic came what media has deemed the “port congestion pandemic”. Intensified by the pandemic, the commonplace anchoring of high-tonnage ships causes a substantial geomorphologial footprint on the seabed outside marine ports globally, but isn’t yet quantified. We present the first characterisation of the footprint and extent of anchoring in a low congestion port in New Zealand-Aotearoa, demonstrating that high-tonnage ship anchors excavate the seabed by up to 80 cm, with the impacts preserved for at least 4 years. The calcuated volume of sediment displaced by one high-tonnage ship (> 9000 Gross Tonnage) on anchor can reach 2800 m3. Scaled-up globally, this provides the first estimates of the footprint of anchoring to the coastal seabed, worldwide. Seafloor damage due to anchoring has far-reaching implications for already stressed marine ecosystems and carbon cycling. As seaborne trade is projected to quadruple by 2050, the poorly constrained impacts of anchoring must be considered to avoid irreversible damage to marine habitats.
Proteins in human body fluids contain in vivo antigen analog of the melibiose-derived glycation product: MAGE
Authors: Gostomska-Pampuch Kinga , Gamian Andrzej , Rawicz-Pruszyński Karol , Gęca Katarzyna , Tkaczuk-Włach Joanna , Jonik Ilona , Ożga Kinga , Staniszewska Magdalena 
Published: May 2022

AbstractMelibiose-derived AGE (MAGE) is an advanced glycation end-product formed in vitro in anhydrous conditions on proteins and protein-free amino acids during glycation with melibiose. Our previous studies revealed the presence of MAGE antigen in the human body and tissues of several other species, including muscles, fat, extracellular matrix, and blood. MAGE is also antigenic and induces generation of anti-MAGE antibody. The aim of this paper was to identify the proteins modified by MAGE present in human body fluids, such as serum, plasma, and peritoneal fluids. The protein-bound MAGE formed in vivo has been isolated from human blood using affinity chromatography on the resin with an immobilized anti-MAGE monoclonal antibody. Using mass spectrometry and immunochemistry it has been established that MAGE epitope is present on several human blood proteins including serum albumin, IgG, and IgA. In serum of diabetic patients, mainly the albumin and IgG were modified by MAGE, while in healthy subjects IgG and IgA carried this modification, suggesting the novel AGE can impact protein structure, contribute to auto-immunogenicity, and affect function of immunoglobulins. Some proteins in peritoneal fluid from cancer patients modified with MAGE were also observed and it indicates a potential role of MAGE in cancer.
Persistence of C-reactive protein increased levels and high disease activity are predictors of cardiovascular disease in patients with axial spondyloarthritis
Authors: Navarini Luca , Currado Damiano , Marino Annalisa , Di Donato Stefano , Biaggi Alice , Caso Francesco , Costa Luisa , Tasso Marco , Ruscitti Piero , Pavlych Viktoriya , Berardicurti Onorina , Ciancio Antonio , Pantano Ilenia , Camarda Federica , Chimenti Maria Sole , D’Antonio Arianna , Ursini Francesco , Corrado Addolorata , Cantatore Francesco Paolo , Perricone Roberto , Guggino Giuliana , Ciccia Francesco , Cipriani Paola , Scarpa Raffaele , Afeltra Antonella , Giacomelli Roberto 
Published: May 2022

AbstractAn accurate prediction of cardiovascular (CV) risk in patients with Axial Spondyloarthritis (axSpA) is a strong unmet need, as CV risk algorithms poorly perform in these subjects. The aim of this study was to establish whether the persistence of high C-reactive protein (CRP) and high disease activity may be considered predictive factors of CVD in axSpA. 295 patients without personal history of CVD, were consecutively enrolled in this study. To evaluate the relationship between CV events occurrence (fatal and non-fatal) and the persistence of increased CRP levels, ASDAS (Ankylosing Spondylitis Disease Activity Score) > 2.1, and BASDAI (Bath Ankylosing Spondylitis Disease Activity) > 4 during the follow-up, univariable and multivariable Cox Proportional Hazard Models have been performed. During follow-up (we analyzed 10-years retrospective data), 23 patients had a CV event. Multivariable Cox Proportional Hazard Models showed a strong association between CV event and the persistency of increased CRP levels (namely, percentage of visits in which CRP levels were increased) (HR = 1.03; 95%CI 1.015–1.045; p < 0.001), of ASDAS > 2.1 (HR = 1.014, 95%CI 1.000–1.028, p = 0.047), and of BASDAI > 4 (HR 1.019, 95%CI 1.006–1.033, p = 0.006) during follow-up, after adjustment for age, sex, and diabetes. This study suggests that persistence of increased CRP levels and high disease activity may be considered biomarkers to identify those axSpA patients at higher risk of CVD. Innovative axSpA-specific CV risk score, including these variables, have to be developed.
RETRACTED ARTICLE: The numerical study of pressure and temperature effects on mechanical properties of baghdadite-based nanostructure: molecular dynamics simulation
Authors: Liu Qun , Bykanova Olga , Akhmadeev Ravil , Baghaie Shaghaiegh , Hekmatifar Maboud , Arefpour Ahmadreza , Sabetvand Roozbeh , Borisov Vitaliy 
Published: May 2022

AbstractBioceramics have been commonly implemented to replace and restore hard tissues such as teeth and bones in recent years. Among different bioceramics, Baghdadite (BAG) has high bioactivity due to its ability to form apatite and stimulate cell proliferation. So, this structure is used widely for medical applications to treat bone-based diseases. Physically, we expect changes in temperature and pressure to affect the Baghdadite-based nanostructure’s mechanical behaviour. So, in this computational study, we report the pressure/temperature effect on Baghdadite matrix with nanoscale size by using Molecular Dynamics (MD) approach. To this end, physical values like the total energy, temperature, final strength (FS), stress–strain curve, potential energy, and Young’s modulus (YM) are reported. Simulation results indicated the mechanical properties of Baghdadite (BAG) nanostructure weakened by temperature and pressure increase. Numerically, the FS and YM of the defined structure reach 131.40 MPa/159.43 MPa, and 115.15 MPa/139.72 MPa with temperature/pressure increasing. Therefore, the increase in initial pressure and temperature leads to a decrease in the mechanical properties of nanostructures. These results indicate the importance of the initial condition in the Baghdadite-based nanostructures’ mechanical behaviour that must be considered in clinical applications.
Patterns of sexual and HIV-related stigma among men who have sex with men and women living with HIV in Haiti
Authors: Dévieux Jessy G. , Vertovec John , Jean-Gilles Michèle , Rosenberg Rhonda , René Cassandra , Cyrus Elena , Jean Samuel Emieux , Dunbar Willy 
Published: May 2022

AbstractVulnerability to contracting HIV among Men who have Sex with Men and Women (MSMW) was recognized early in the epidemic. However, while global HIV efforts have made tremendous progress for the heterosexually-identified population, the specific needs of MSMW were not directly addressed with tailored and context-adapted interventions. The purpose of this study was to inform this area of research by exploring patterns of stigma through sexual identity developmental history as well as coping mechanisms among MSMW living with HIV in Haiti. A qualitative descriptive study comprised of in-depth interviews with 32 MSMW living with HIV was carried out. Participants were recruited using snowball techniques. An inductive thematic analysis was conducted in NVivo, contextualized by the socio-ecological context of Haiti. MSMW reported struggling with their sexuality since their adolescence, often because of enacted stigma from family members, the community, and cultural conflicts. Most participants described experiencing anxiety, psychological distress, depression, social isolation, suicidal ideation and suicide attempts. Mechanisms for coping with stigma included self-acceptance, social support, hiding their sexual orientation, and tolerance of the voodoo religion. To combat stigma, and improve HIV treatment adherence and retention among MSMW, culturally-tailored multilevel initiatives should be implemented.
Sourcing Herod the Great's calcite-alabaster bathtubs by a multi-analytic approach
Authors: Amir Ayala , Frumkin Amos , Zissu Boaz , Maeir Aren M. , Goobes Gil , Albeck Amnon 
Published: May 2022

AbstractHerod “the Great”, king of Judea in the second half of the first century BC, was known for his building projects, wealth, and political power. Two of his personal calcite-alabaster bathtubs, found in the Kypros fortress and the palace of Herodium, are among the very limited archaeological evidence of his private life. It seemed plausible that they were imported from Egypt, the main source of calcite-alabaster in ancient periods. Yet, the recent identification of a calcite quarry in the Te’omim cave, Israel, challenges this hypothesis. Here, we developed an approach for identification of the source of calcite-alabaster, by combination of four analytical methods: ICP, FTIR, ssNMR and isotope ratio. These methods were then applied to Herod’s bathtubs demonstrating that they were indeed quarried in Israel rather than in Egypt.
A Tool for Differential Diagnosis of Childhood Apraxia of Speech and Dysarthria in Children: A Tutorial
Authors: Iuzzini-Seigel Jenya , Allison Kristen M. , Stoeckel Ruth 
Published: May 2022

Purpose:
While there has been mounting research centered on the diagnosis of childhood apraxia of speech (CAS), little has focused on differentiating CAS from pediatric dysarthria. Because CAS and dysarthria share overlapping speech symptoms and some children have both motor speech disorders, differential diagnosis can be challenging. There is a need for clinical tools that facilitate assessment of both CAS and dysarthria symptoms in children. The goals of this tutorial are to (a) determine confidence levels of clinicians in differentially diagnosing dysarthria and CAS and (b) provide a systematic procedure for differentiating CAS and pediatric dysarthria in children.

Method:
Evidence related to differential diagnosis of CAS and dysarthria is reviewed. Next, a web-based survey of 359 pediatric speech-language pathologists is used to determine clinical confidence levels in diagnosing CAS and dysarthria. Finally, a checklist of pediatric auditory–perceptual motor speech features is presented along with a procedure to identify CAS and dysarthria in children with suspected motor speech impairments. Case studies illustrate application of this protocol, and treatment implications for complex cases are discussed.

Results:
The majority (60%) of clinician respondents reported low or no confidence in diagnosing dysarthria in children, and 40% reported they tend not to make this diagnosis as a result. Going forward, clinicians can use the feature checklist and protocol in this tutorial to support the differential diagnosis of CAS and dysarthria in clinical practice.

Conclusions:
Incorporating this diagnostic protocol into clinical practice should help increase confidence and accuracy in diagnosing motor speech disorders in children. Future research should test the sensitivity and specificity of this protocol in a large sample of children with varying speech sound disorders. Graduate programs and continuing education trainings should provide opportunities to practice rating speech features for children with dysarthria and CAS.

Supplemental Material:

https://doi.org/10.23641/asha.19709146
Performance analysis of one‐source‐with‐one‐helper transmission over shadowed κ$\kappa$‐μ$\mu$ fading multiple access channels
Authors: Qian Shen , He Jiguang , Zhou Xiaobo , Imai Takamasa , Matrumoto Tad 
Published: May 2022

AbstractThe performance of correlated sources transmission over multiple access shadowed ‐ fading channels is investigated, in which one of the correlated sources needs to be recovered at the destination, whereas the other serves as a helper. The sufficient condition for lossless coding is determined by the intersection of the modified Slepian–Wolf region and the multiple access channel region. The outage probability upper bounds are derived based on the sufficient condition, with the Gaussian codebook capacity and the constellation constrained capacity, respectively. The difference between the outage probabilities derived with the two kinds of capacities is found to be very minor, when the spectrum efficiency or source rate is low; however, with high spectrum efficiency or high source rate, such difference becomes significant. A closed‐form outage approximation is also obtained at the high signal‐to‐noise ratio region. The accuracy of the analytical results is verified by the Monte‐Carlo simulations. It is found that shadowing significantly affects the outage performance, however, it has no effect on the diversity gain. Furthermore, the power allocation between the source and the helper is studied to minimize the outage probability and it is found that generally more power should be allocated to the helper in the case with higher source‐helper correlation.
Effective capacity optimization for UDN
Authors: Xie Shaoguo , Ai Liefu , Xu Wenquan 
Published: May 2022

AbstractFor the ultra‐dense distributed network (UDN), the intensive deployment leads to the collision problem of the unlicensed spectrum access due to the random contention access mechanism of the unlicensed spectrum, which is difficult to improve the user quality of service (QoS). Here, the wireless access process of the licensed assisted access (LAA) network is modelled as a four‐state semi‐Markov model. Then, the effective capacity (EC) of the UDN based on the random access is derived, and the network capacity limit under the QoS requirements in the unlicensed spectrum is given. Based on the obtained EC, two power control algorithms are proposed to maximize the EC and effective energy efficiency (EEE) respectively under the user QoS requirements. Finally, numerical results verify the accuracy of the proposed theory, and the capacity‐delay domain of the UDN is given. The simulation results show that the proposed algorithms improve the EC and the EEE compared with existing classical schemes.
Senti‐eXLM: Uyghur enhanced sentiment analysis model based on XLM
Authors: Li Siyu , Zhao Kui , Yang Jin , Jiang Xinyun , Li Zhengji , Ma Zicheng 
Published: May 2022

AbstractIn the field of public opinion analysis, sentiment analysis is an important basic research branch. Previous studies have successfully proved that the advanced transformer pre‐training model can be applied to this scenario in Uyghur and other low‐resource language scenarios. However, the majority of these studies are based on the traditional language anchor point and rely on the pre‐training model's cross‐lingual understanding ability. The Senti‐eXLM model proposed in this paper employs a method that allows for adaptively expanding the model's knowledge domain and dynamically adjusting the model for Uyghur language in order to improve the language's understanding and representation capability, thereby increasing the accuracy of text emotion analysis. Experiments on publicly available data sets demonstrate that when compared to the original model, the model's emotion classification accuracy is improved by 6.17%, the training convergence speed is increased by 27%, and the average reasoning time is increased by only 11%.