bluuebunny/crossref_metadata_2025_split huggingface dataset:
Optimization criteria for ordering myeloid neoplasm next‐generation sequencing
Authors: Gisriel Savanah D. , Howe John G. , Tormey Christopher A. , Torres Richard , Hager Karl M. , Rinder Henry M. , Siddon Alexa J. 
Published: October 2024

AbstractIntroductionMyeloid neoplasms (MNs) frequently harbor pathogenic mutations not detected by karyotyping and fluorescence in situ hybridization; hence, next‐generation sequencing (NGS) is necessary for diagnosis, risk stratification, and therapy. If, however, NGS is not clinically indicated but still performed, the results may promote futile avenues of investigation, heighten patient distress, and increase cost.MethodsWe created criteria to approve NGS testing for MN (MN‐NGS) with the goal of maximizing actionable results. These actionable results include making a new MN diagnosis, characterizing a MN with baseline mutational status, and altering treatment plans. Approval criteria included clinical suspicion of new, relapsed, or worsening disease and end‐of‐induction chemotherapy. Cancellation criteria included the suspicion of non‐myeloid disease only, no suspicion of progression of a known MN, no evidence for recurrence post‐transplant, a diagnosis of chronic myeloid leukemia, and cases using blood when a concurrent bone marrow NGS is being performed. We applied these criteria to NGS tests ordered at our institution between August and December 2018 and determined whether any tests meeting our cancelation criteria yielded actionable results.ResultsConsecutive MN‐NGS orders (n = 174) were retrospectively categorized as appropriate (Group A, n = 115), inappropriate (Group B, n = 29), and appropriately canceled (group C, n = 30). Seventy‐five of the 115 (65%) Group A tests and none of the 29 (0%) Group B tests yielded actionable results (p < 0.0001).ConclusionApproximately one third (59/174) of MN‐NGS test orders can be safely canceled using these criteria, which would result in $150,370 of Centers for Medicare and Medicaid Services‐reimbursed savings annually.
Natural course and outcomes of children with ubiquitin‐specific protease 53 (USP53)‐related genetic chronic cholestasis
Authors: Alam Seema , Lal Bikrant Bihari , Ravindranath Aathira , Bavdekar Ashish , Dheivamani Nirmala , Snehavardhan Pandey , Shah Aashay , Tripathi Parijat Ram , Nagral Aabha , Srikanth K. P. , Shah Ira , Ramakrishna Somashekara Hosaagrahara , Suchismita Arya , Waikar Yogesh , Shah Vaibhav , Nalwalla Zahabiya , Kumar Karunesh , Maria Arjun , Sibal Anupam , Sivaramakrishnan Viswanathan M. , Wadhwa Nishant , Ashritha A. , Sood Vikrant , Khanna Rajeev ,   Indian PFIC Registry
Published: October 2024

AbstractUbiquitin‐specific protease 53 (USP53) is essential for formation of cellular tight junctions and variations in this gene disrupt the tight junctions, resulting in cholestasis. We describe the clinical manifestations and outcomes of patients with USP53 mutations from the Indian progressive familial intrahepatic cholestasis registry. All 29 patients who harbored mutations in the USP53 gene either in the homozygous, compound heterozygous, or heterozygous state and presented with cholestasis were included. USP53 variants related to cholestasis had good outcomes, with native liver survival in 82.7%, whereas 17.3% required liver transplantation. Jaundice developed in 93% and within 3 months of age in 48.8%. Jaundice resolved in 21 (72.4%). Pruritus 76% at a median age of 7 months (severe in 10/22, 45% and refractory to medical therapy in 4, 18.1%). Majority of them (82.7%) had biallelic mutations. Protein‐truncating mutations were present in 20 (69%) and missense mutations in 9 (31%). No correlation was found between the genotype and the outcome.
Effects of arabinoxylan extracted from vinegar residue on physicochemical and structural properties of gluten proteins obtained from freeze–thaw wheat dough
Authors: Zhu Yuanyuan , Yan Qian , Yu Yongjian , Wang Ke , Yu Zhen , Wang Yuqin , Liu Peng , Han Dong 
Published: October 2024

AbstractBACKGROUNDArabinoxylan is commonly used as a hydrocolloid in frozen dough to improve the texture and the sensory qualities of the products. The effects of vinegar residue arabinoxylan (VRAX) on the secondary structures and microstructures of gluten proteins during freeze–thaw storage were studied, and the underlying mechanism governing these effects was clarified.RESULTSThe results revealed that VRAX improved the textural properties of gluten proteins, but had a negative impact on their viscoelasticity. Additionally, the addition of VRAX increased the number of disulfide bonds and also improved the freezing tolerance of the gluten proteins. It was found that the enthalpy of the gluten proteins decreased by 19.78% following VRAX addition. As a result of the use of VRAX, the freezing procedure resulted in reduced formation of ice crystals, protecting the gluten network structure and preserving the dough's elasticity. The network structure of gluten proteins after VRAX treatment was more ordered and integrated relative to that of frozen blank control gluten proteins.CONCLUSIONOverall, the freeze–thaw stability of the gluten proteins was enhanced by VRAX. These results suggest that VRAX has potential as an effective cryoprotectant in frozen dough. © 2024 Society of Chemical Industry.
Preventive treatment effects on brain structures and functions in patients with chronic migraine: A multimodel magnetic resonance imaging study
Authors: Chen Tai‐Yuan , Ko Ching‐Chung , Yeh Poh‐Shiow , Wu Te‐Chang , Shih Yun‐Ju , Yang Chun‐Ming , Lee Ju‐Chi , Chou Ming‐Chung , Lin Kao‐Chang 
Published: October 2024

AbstractPatients with chronic migraine (CM) often exhibit structural and functional alterations in pain‐matrix regions, but it remains unclear how preventive treatment affects these changes. Therefore, this study aimed to investigate the structural and functional changes in pain‐matrix regions in CM patients after 6‐month treatment. A total of 24 patients with CM and 15 healthy controls were recruited for this study. Patients were divided into responder group (N = 9) and non‐responder group (N = 15). After completing the Migraine Disability Assessment (MIDAS) questionnaire, all patients underwent whole‐brain high‐resolution T1‐weighted images, diffusion‐weighted imaging, and resting‐state functional magnetic resonance imaging at baseline and 6‐month follow‐up. Whole brain gray matter volume and white matter diffusion indices were analyzed using voxel‐based analysis. Structural and functional connectivity analyses were performed to understand brain changes in patients after 6‐month preventive treatment. The responder group exhibited significantly higher MIDAS scores than the non‐responder group at baseline, but no significant difference between the two groups at follow‐up. No significant interval change was noted in gray matter volume, white matter diffusion indices, and structural connectivity in CM patients after 6‐month treatment. Nonetheless, the functional connectivity was significantly increased between occipital, temporal lobes and cerebellum, and was significantly decreased between parietal and temporal lobes after 6‐month preventive treatment. We concluded that resting‐state functional connectivity was suitable for investigating the preventive treatment effect on CM patients.
Improving Diagnostic Yield in Patients with Pulsatile Tinnitus: A Ten‐Year Analysis
Authors: Sismanis Aristides , Coelho Daniel 
Published: October 2024

ObjectivesTo determine the yield of a comprehensive diagnostic algorithm for patients with pulsatile tinnitus (PT) and to review the common etiologies and present clinical pears for their diagnosis.MethodsRetrospective chart review of patients with PT from 2013 to 2023. Charts were reviewed for demographic data (age, sex, BMI), side of PT (or bilateral), specialty clinic of initial evaluation, coexistent symptoms in addition to PT, and final diagnosis (or non‐diagnosis). Clinical, audiometric, laboratory, and radiographic data were collected. Putative chart diagnoses were reviewed by the authors and deemed likely or unlikely to be the source of the patient's PT. Those with “unlikely” were grouped in the “idiopathic” cohort. The diagnostic algorithm is presented in detail.ResultsTwo hundred and 90 patients were included for analysis. The overall diagnostic yield was 90.7% for all patients and 95.6% for those patients who completed the recommended workup – a substantial improvement over published rates. Twenty‐nine etiologies were identified with the most common etiology was idiopathic intracranial hypertension (IIH). Twenty‐one diagnoses comprised no more than 5% of patients. Seventy‐three patients (25.2%) had more than one pathology as a potential source for their PT.ConclusionsPT can present a diagnostic challenge to the clinician. The findings of this study, however, reveal that proper evaluation based on obtaining a thorough history, performing a physical examination, coupled with properly directed imaging studies and blood testing can accomplish a high diagnostic yield of at least one potential etiology.Level of Evidence4 Laryngoscope, 135:1148–1154, 2025
Bilateral Fluctuating Sensorineural Hearing Loss as a Paraneoplastic Manifestation for Lymphoma
Authors: Young Ting‐Chia , Wang Wen‐Hsiu , Chu Chia‐Huei , Lin Hung‐Ching , Chen Pey‐Yu 
Published: October 2024

Autoimmune inner ear disease (AIED) is an uncommon cause of fluctuating sensorineural hearing loss (SNHL), which is diagnosed by exclusion and required a high index of suspicion. Secondary AIED, which accompanies other autoimmune diseases, occurs in up to 30% of AIED cases. Secondary AIED is a rare manifestation of paraneoplastic syndrome, and the causal malignancy may be occult initially. Detecting and treating associated diseases, along with the use of immunosuppressants, are the mainstay for the management of AIED.Herein, we presented a woman with bilateral fluctuating and progressive SNHL, partially responding to steroid or immunosuppressant treatment. Her hearing eventually stabilized after completing the treatment for diffuse large B cell lymphoma, which was diagnosed 6 months after the onset of hearing loss. This case serves as a reminder to physicians to be aware of AIED in cases of fluctuating SNHL and the possibility of associated malignancy alongside autoimmune disturbance. Laryngoscope, 2024
Hepatocyte‐Specific Knockout of Na+/H+ Exchanger‐1 Does Not Ameliorate NASH‐Associated Liver Damage in Mice
Authors: Sjøgaard‐Frich Lise M. , Egeskov Cecilie M. , Halling Jens F. , Ponniah Muthulakshmi , Dmytriyeva Oksana , Pilegaard Henriette , Pedersen Stine Falsig 
Published: October 2024

ABSTRACTNon‐alcoholic fatty liver disease (NAFLD) is the fastest‐growing liver‐related cause of mortality, affecting about 25% of the adult world population. Despite this, fundamental questions regarding the underlying mechanisms remain incompletely answered. In mice, whole‐body knockout (KO) of Na+/H+ exchanger NHE1 (SLC9A1) was suggested to be protective against NASH. However, the translatability of this finding is confounded by the fact that global NHE1 KO affects ubiquitous processes in tissues outside of the liver. Here, we aimed to determine the role of hepatocyte NHE1 in NAFLD. We generated a hepatocyte‐specific NHE1 KO (NHE1 HKO) mouse and determined the impact of NHE1 loss on liver metabolism and NAFLD characteristics following methionine–choline‐deficient (MCD) diet. Loss of hepatocyte NHE1 does not protect against NAFLD development, but rather seems to impair basal ROS balance in the mouse liver.
Assessing the Nexus Between Landscape Degradation and Flooding in the Niger River Catchment, Southeastern Nigeria: A 40‐Year Geospatial Dynamics (1992–2022)
Authors: Charles Osuagwu C. , Chinedu Ani D. 
Published: October 2024

ABSTRACTThis paper examines the relationship between landscape degradation and flooding in the Niger River catchment of Onitsha, Nigeria, over a 40‐year period (1992–2022), focusing on changes in land use and land cover characteristics. Satellite images were preprocessed and classified using Anderson's classification technique. Erdas Imagine GIS software was adopted to carry out change analysis for each of the classes generated. The Landsat images for all the years (1992, 2002, 2012, and 2022) were acquired for the months of July (wet season) and December (dry season) and analyzed. The trends in seasonal changes in land use and land cover characteristics were prominent in the wet season. This was significantly seen in changes for water body and vegetative area. Built‐up areas and open spaces indicated a decrease during the wet season compared to the dry season. The notable changes occurred in water bodies and vegetation across the studied years, peaking in 1992 with 1628.82 ha for water bodies and 8993.79 ha for vegetation. In 2012, these values were 2040.93 and 8977.5 ha. The largest seasonal shifts were in vegetative areas in 2012 and built‐up in 2022. After analyzing the geospatial data according to the classifications, the study uncovers a notable link between landscape degradation and increased flood susceptibility. Notably, the findings highlight that shifts in these landscape features during the wet season significantly impact flood occurrence, emphasizing the critical role of landscape degradation in exacerbating flood risks in the region.
Assessing the Effectiveness of Different Kinetic Models in Simulating the Soil Nitrification Process of Ammonium Fertilizers
Authors: Tao Jianyu , Liu Xiaoyuan 
Published: October 2024

ABSTRACTPrecise estimation of the soil nitrification process of ammonium fertilizers is crucial to improving soil fertility and reducing environmental pollution since nitrification is closely related to ammonia volatilization and nitrate leaching. However, the applicability and effectiveness of different kinetic models in simulating the soil nitrification process have not been systematically evaluated in previous studies. Here, we compared the effectiveness of one self‐established model (T‐function) and three commonly‐used kinetic models (L‐function, zero‐order kinetic model, and first‐order kinetic model) using data extracted from peer‐reviewed publications. Results showed that the average determination coefficients (R
2) of the T‐function and L‐function were 3% higher than that of the first‐order kinetic model, while the average root mean square errors (RMSE) of the T‐function and L‐function were 30% lower than that of the first‐order kinetic model. In addition, first‐order kinetic model could not function properly when it was applied to simulate linear data. Zero‐order kinetic model was not suitable for predicting soil nitrification process because its mathematical nature was inconsistent with the actual soil nitrification process. Further investigations of the parameters of the T‐function and L‐function revealed that p1 (parameter 1) represented the soil net nitrate production of the applied N fertilizer, while p1 × p3 represented the soil nitrification rate. The response of the parameters of the T‐function was more sensitive to soil pH, TN, and C/N ratio changes than those of the L‐function. Therefore, the T‐function is slightly more accurate than the L‐function, but it requires more data points to achieve the best performance. In general, T‐function and L‐function are the most suitable models for simulating the soil nitrification process of N fertilizers and have the potential to be incorporated into soil N cycling models.
Biogenic silica dynamics in coastal wetland sediments: A key driver of silicon and carbon biogeochemical cycling
Authors: Zhao Xiangwei , Song Zhaoliang , Wu Yuntao , Van Zwieten Lukas , Guo Laodong , Yu Changxun , Li Zimin , Wu Lele , Yang Xiaomin , Ran Xiangbin , Sun Jun , Wei Yuqiu , Wang Yidong , Yuan Peng , Zhang Jianping , Sun Xiaole , Zuo Xinxin , Vancov Tony , Liu Cong‐Qiang , Wang Hailong 
Published: October 2024

AbstractBiogenic silica (biogenic Si) is a bioactive component crucial for the biogeochemical cycling of Si in terrestrial and aquatic ecosystems. Its formation and dissolution dynamics are intricately linked to carbon (C) cycling. However, knowledge about the source, composition, and factors controlling the distribution of biogenic Si in coastal wetland sedimentary environments is still limited. To address this lack of knowledge, we introduced a suite of geometric models for biogenic Si biovolume calculation and investigated biogenic Si assemblages, along with biogenic Si and biogenic Si‐occluded C contents, in sediments from representative coastal wetlands along the west coast of Bohai Bay. Our analysis showed that sedimentary biogenic Si predominantly derived from phytoliths (78.1% ± 5.8%), diatoms (18.2% ± 4.8%), and sponge spicules (3.7% ± 2.9%). Notably, phytolith assemblages were primarily composed of forms derived from the Poaceae family. The biogenic Si‐occluded C content (0.035–1.870 g kg−1) within these wetland sediments was consistent across both sites, accounting for 0.97–5.71% of the total organic C pool. Structural equation modeling indicated that total organic C, pH, and amorphous aluminum oxides either directly or indirectly influenced the biogenic Si content in coastal wetlands sediments. These results demonstrate the critical role that biogenic Si plays in the Si biogeochemical cycle and provide valuable information that advances our understanding of the biogeochemical interactions between Si and C in coastal wetland ecosystems.
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding
Authors: Abdelrazek Ibrahim M. , Knaus Alexej , Javanmardi Behnam , Krawitz Peter M. , Horn Denise , Abdalla Ebtesam M. , Kumar Sheetal 
Published: October 2024

ABSTRACTBackgroundAcromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2‐year‐old boy, offspring of consanguineous parents, with acromesomelic dysplasia and postaxial polydactyly in which exome sequencing identified a novel homozygous missense variant in BMPR1B. The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula.MethodsWhole trio exome sequencing was conducted to identify potential genetic variants in the patient.ResultsThe analysis identified the biallelic variant NM_001203.3:c.821A > G;p.(Gln274Arg) in BMPR1B, a gene encoding bone morphogenetic protein receptor 1B.ConclusionThe skeletal phenotype can be brought in line with the phenotypes of previously reported cases of BMPR1B‐associated chondrodysplasias. However, the postaxial polydactyly described here is a novel clinical finding in a BMPR1B‐related case; notably, it has previously been reported in other acromesomelic dysplasia cases caused by homozygous pathogenic variants in GDF5—a gene which encodes for growth differentiation factor 5, a high‐affinity ligand to BMPR1B.
Dynamics and stability analysis of unbalance responses in mid‐positioned electrically assisted turbocharger rotor
Authors: Hu Mingyue , Cao Shuqian , Cao Xiaolin , Zhang Zhiyong , Men Rixiu , You Zhenzhen , Wang Tianyou 
Published: October 2024

AbstractElectrically assisted turbochargers (EAT) improve intake efficiency by motor‐assisted compressor impeller rotation, enhancing the system's transient response. However, the addition of motor rotor components has increased the number of unbalanced positions in the shaft system, leading to problems such as excessive compressor end vibration and complex changes in oil film stability. To evaluate the effects of unbalance in the motor rotor, along with the parameters of floating ring bearings (FRB), on the dynamic response of EAT, a finite element model of an EAT rotor supported by nonlinear FRB is developed, and the vibration response of the compressor end bearing is obtained by numerical integration. The results indicate: (1) In contrast to the effect of compressor and turbine unbalance, proper motor rotor unbalance is more effective in suppressing oil whirl instability in the high‐speed operating range. However, a new inner oil film whirl “instability interval” is also induced in the low‐speed operating range, leading to an increase in the Y1 compressor‐end amplitude at low and medium speeds, and this “instability interval” increases with the amount of unbalance. (2) When an oil whirl occurs in the oil film, the maximum eccentricity of the bearing surges and is greater than 0.3, which can be used as an effective threshold for determining whether the oil film is unstable in engineering applications. (3) A suitable outer oil‐film clearance range should be , otherwise, a wide range of outer oil‐film whirl instability occurs. Controlling the amount of unbalance and oil‐film clearance to suppress the sub‐synchronous vibration of the EAT, provides a theoretical basis for the design of the dynamics of the nonlinear rotor bearing system and improves the stability of the turbocharger's operation.
A method for dynamic parameter identification of an industrial robot based on frequency response function
Authors: Li Bo , Zhao Wei , Miao Yunfei , Tian Wei , Liao Wenhe 
Published: October 2024

AbstractHaving accurate values of the dynamic parameters is necessary to characterize the dynamic behaviors of mechanical systems and for the prediction of their responses. To accurately describe the dynamic characteristics of industrial robots (IRs), a new method for dynamic parameter identification is proposed in this study with the goal of developing a real IR dynamics model that combines the multibody system transfer matrix method (MSTMM) and the nondominated sorting genetic algorithm‐II (NSGA‐II). First, the multibody dynamics model of an IR is developed using the MSTMM, by which its frequency response function (FRF) is calculated numerically. Then, the experimental modal analysis is conducted to measure the IR's actual FRF. Finally, the objective function of the minimum errors between the calculated and measured eigenfrequencies and FRFs are constructed to identify the dynamic parameters of the IR by the NSGA‐II algorithm. The simulated and experimental results illustrate the effectiveness of the methodology presented in this paper, which provides an alternative to the identification of IR dynamic parameters.