bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China
Authors: Tong Fan , Zhang Yuchen , Chen Chi , Zhu Ling , Lu Yijun , Zhang Zhanming , Chen Ting , Yan Jiaxuan , Zheng Jing , Zhao Xiaoxu , Zhou Duo , Yang Xin , Yang Rulai , Cang Xiaohui , Jiang Pingping , Shu Qiang 
Published: January 2023

Methionine adenosyltransferase deficiency (MATD) is a rare metabolic disorder caused by mono- or biallelic MAT1A mutations that are not yet well understood. Of the 4,065,644 neonates screened between November 2010 and December 2021, 35 individuals have been diagnosed with an estimated incidence of 1: 116,161 by a cutoff value of methionine 82.7 μmol/L and follow-up over 11 years. MATD patients with autosomal recessive (AR) type had higher clinical and genetic heterogeneity than those with autosomal dominant (AD) type. Fifteen unrelated AD patients harbored one well-known dominant variant, c.791 G&gt;A or c.776 C&gt;T, and were clinically unaffected with a mean plasma methionine (Met) value &lt;300 μmol/L. Twenty AR cases have unique genotypes and presented a wide range of clinical abnormalities from asymptomatic to white matter lesions. Of them, 10 AR patients displayed severe manifestations, such as verbal difficulty, motor delay, development delay, and white matter lesions, with mean Met &gt;500 μmol/L and thereby were treated with a methionine-restricted diet alone or in combination with betaine, folate, or vitamin B6, and were healthy finally. Neurological abnormalities were evidenced in two patients (P16 and P27) with Met values &gt;800 μmol/L by MRI scan. Neurological abnormalities were reversed here by liver transplantation or by the determination of S-adenosylmethionine supplementation. Additionally, 38 variants of MAT1A were distributed within patients and carriers, of which 24 were novel and mostly predicted to be damaged. Our findings with an extensive clinical and genetic dataset provided new insights into its diagnosis and treatment and will be helpful for its optimal management in the future.
Pre-pubertal oocytes harbor altered histone modifications and chromatin configuration
Authors: Wasserzug Pash Pe’era , Karavani Gilad , Reich Eli , Zecharyahu Lital , Kay Zehava , Bauman Dvora , Mordechai-Daniel Talya , Imbar Tal , Klutstein Michael 
Published: January 2023

Pre-pubertal oocytes are still dormant. They are arrested in a GV state and do not undergo meiotic divisions naturally. A multitude of molecular pathways are changed and triggered upon initiation of puberty. It is not yet clear which epigenetic events occur in oocytes upon pubertal transition, and how significant these epigenetic events may be. We evaluated epigenetic marker levels in mouse pre-pubertal and post-pubertal female oocytes. In addition, we evaluated H3K9me2 levels in human oocytes collected from fertility preservation patients, comparing the levels between pre-pubertal patients and post-pubertal patients. The chromatin structure shows a lower number of chromocenters in mouse post-pubertal oocytes in comparison to pre-pubertal oocytes. All heterochromatin marker levels checked (H3K9me2, H3K27me3, H4K20me1) significantly rise across the pubertal transition. Euchromatin markers vary in their behavior. While H3K4me3 levels rise with the pubertal transition, H3K27Ac levels decrease with the pubertal transition. Treatment with SRT1720 [histone deacetylase (HDAC) activator] or overexpression of heterochromatin factors does not lead to increased heterochromatin in pre-pubertal oocytes. However, treatment of pre-pubertal oocytes with follicle-stimulating hormone (FSH) for 24 h - changes their chromatin structure to a post-pubertal configuration, lowers the number of chromocenters and elevates their histone methylation levels, showing that hormones play a key role in chromatin regulation of pubertal transition. Our work shows that pubertal transition leads to reorganization of oocyte chromatin and elevation of histone methylation levels, thus advancing oocyte developmental phenotype. These results provide the basis for finding conditions for in-vitro maturation of pre-pubertal oocytes, mainly needed to artificially mature oocytes of young cancer survivors for fertility preservation purposes.
Single ring isolation of pulmonary veins combined with electrical isolation of the superior vena cava in patients with paroxysmal atrial fibrillation
Authors: Li Xi , Chen Yanhong , Chen Guanghui , Deng Chengang , Tang Chen , Zhang Jinlin 
Published: January 2023

BackgroundSingle-ring isolation (SRI) of the pulmonary veins and the left atrial post wall (LAPW) is an accepted strategy in atrial fibrillation ablation. Whether SRI combined with superior vena cava isolation (SVCI) could further increase the success rate of paroxysmal atrial fibrillation (PAF) has not been reported.ObjectiveThis study aimed to investigate whether SRI combined with SVCI was feasible and whether it could improve the success rate of PAF ablation.Methods and resultsIn our study, sixty patients with PAF from May 2019 to March 2021 were included. SRI plus SVCI was completed with ablation index (AI)-guided high-power ablation. The success rates of SRI and SVCI were 100% and 97%, respectively. One-pass SRI was achieved in 41 out of 60 patients, with 19 out of 60 patients requiring additional ablation to complete the SRI. SVC was not isolated in 2 out of the 60 cases due to concerns about the phrenic nerve (PN) injury. Among the enrolled patients, 2 patients had anomalous pulmonary veins (PVs) (common ostium of inferior PVs). SRI was applied to achieve the PV and PW isolation. After ablation, one patient had an ischemic stroke but recovered without severe morbidity. The average follow-up period was (20 ± 7) months, and single-procedure freedom from atrial arrhythmia was 91.7%. AT/AF recurred in five patients, and 2 out of 5 patients underwent redo ablation. The multi-procedure freedom from atrial arrhythmia was 95%.ConclusionOur novel ablation strategy, SRI combined with SVCI, in patients with PAF was feasible and safe, with a relatively high success rate.
Quantitative late gadolinium enhancement cardiac magnetic resonance analysis of the relationship between ablation parameter and left atrial tissue lesion following pulmonary vein isolation
Authors: Wang Qian , Huang Bingyu , Huo Shengqi , Guo Junyi , Li Haojie , Jiang Tao , Peng Dewei , Men Lintong , Tang Dazhong , Xiang Chunlin , Luo Yi , Pi Xiu , Peng Lulu , Jiang Yue , Zhu Mengying , Shi Wei , Li Sheng , Lv Jiagao , Lin Li 
Published: January 2023

BackgroundThe impact of ablation parameters on acute tissue lesion formation after pulmonary vein isolation (PVI) has not been sufficiently evaluated in patients with atrial fibrillation. Radiofrequency ablation lesion can be visualized by late gadolinium enhancement cardiac magnetic resonance (LGE-CMR). We sought to quantitatively analyze the relationship between ablation parameter and tissue lesion following PVI at different segments of pulmonary vein (PV) using LGE-CMR.MethodsTwenty-one patients with atrial fibrillation who underwent PVI procedure were retrospectively enrolled. All patients underwent LGE-CMR examination within 3 days after radiofrequency ablation. Ablation parameters during PVI were documented, including lesion size index (LSI), force–time integral (FTI), power, contact force, temperature, and time of duration. The ablation point was projected onto 3-dimensional (3D) left atrial shell constructed base on LGE-CMR and corresponding image intensity ratio (IIR) was calculated on the same shell. A tissue lesion point was defined when the LGE-CMR IIR was &gt; 1.2.ResultsIn total, 1,759 ablation points were analyzed. The ablation parameters and IIRs for each PV segment were significantly different (P &lt; 0.0001). IIRs corresponding to ablation points at posterior of PV tended to be higher than those at non-posterior of PV when similar ablation parameters were applied during ablation. LSI was a better predictor of tissue lesion existence following PVI than FTI, contact force, power, temperature, and duration time at non-posterior wall of PV. The IIR showed positive correlation with LSI at non-posterior wall of PV (non-posterior of right PV, r = 0.13, P = 0.001, non-posterior of left PV, r = 0.26, P &lt; 0.0001).ConclusionWhen similar ablation parameters were applied during PVI, the posterior wall of PV had more severe tissue lesion than non-posterior wall of PV. Therefore, it was reasonable to decrease ablation energy at posterior wall of PV. Moreover, LSI was a better index to reflect tissue lesion quality following PVI at non-posterior of PV.
To what extent horizontal resolution improves the simulation of precipitation in CMIP6 HighResMIP models over Southwest China?
Authors: Jin Zhengrui , Ge Fei , Chen Quanliang , Lin Zhiye 
Published: January 2023

Southwest China (SWC) is located in the eastern part of Tibetan Plateau (TP) with large elevation differences and complex topography, which has always been a challenge to the simulation of precipitation in climate modeling community. In this study, the differences in the simulation of precipitation over the SWC are evaluated using the lower and higher resolution models (LR and HR) from the High–Resolution Model Intercomparison Project (HighResMIP) protocol in Coupled Model Intercomparison Project Phase 6 (CMIP6). Our results indicate that the spatial patterns of annual precipitation over the SWC for the period 1985–2014 are well reproduced in most of the HR and LR models, with an increasing tendency from the northwest to southeast. Compared with LR models, the wet biases over the eastern TP and the dry biases over the Sichuan Basin are significantly reduced in HR models. The bias for annual precipitation of the multi–model ensemble mean (MME) has been reduced from 0.97 mm/day (LR) to 0.72 mm/day (HR). In addition, the simulation of extreme precipitation is significantly improved in the finer horizontal resolution models, showing effectively reduced simulation biases in the Sichuan Basin compared with the LR models. The frequency and intensity of extremes are represented by heavy precipitation days (R10 mm) and maximum consecutive 5 days precipitation (Rx5day), which the relative changes have been decreased from 66% (LR) to 47% (HR) in R10 mm and decreased from 23% (LR) to 19% (HR) in Rx5day. We further examine the possible reasons for the difference between LR and HR models in precipitation simulation, showing that the HR models could generate “additional” cyclonic circulation and promote more upward motion with the water vapor convergence, thus correcting the dry biases of precipitation simulation over the Sichuan Basin. This indicates that atmospheric circulation and moisture conditions could be simulated more realistically in climate model with a finer resolution, further improving precipitation simulation performance.
The impacts of roughness length on the simulation of land-atmosphere water and heat exchanges over the Yarlung Zangbo Grand canyon region
Authors: Zhang Qiang , Wen Jun , Zhang Tangtang , Yang Yiting , Wu Yueyue , Zhang Ge , Liu Wenhui , Chen Yaling , Yan Zhitao 
Published: January 2023

Precipitation has a significant influence on the topsoil moisture and further impacts the land-atmospheric water and heat exchange process over the Yarlung Zangbo Grand Canyon region (YGC) where exhibits one of the highest frequencies of convective activity in China. The simulated performance of the Community Land Model version 5.0 (CLM5.0) on turbulent fluxes under seven roughness heights for heat transfer (Z0h) schemes at Motuo and Pailong stations over the YGC was evaluated. The results indicate that the CLM5.0 significantly overestimates the surface sensible heat flux (H) while the simulation performance of surface latent heat flux (LE) is better than H. By comparing and analyzing the simulation results, the Z0h schemes suitable for the YGC are selected optimally. The Zeng et al. (J. Hydrometeorol., 2012, 13, 1359–1370) scheme (Z12) is more suitable for the simulations of H, with the simulated RMSE of H at Motuo and Pailong stations on typical sunny days being only 21.63 and 15.13 W m−2, respectively, 81.51% and 76.96% lower than the original Z0h scheme of CLM5.0. The Garratt, J., R and Francey, R., J (Boundary. Layer. Meteorol., 1978, 15, 399–421) scheme (G78) is more suitable for simulating LE in the YGC. The simulated BIAS and RMSE of LE at Motuo station were 9.80% and 21.90% lower than that under the default scheme of CLM5.0 on typical cloudy days. In addition, except for the G78 and CLM5.0 default scheme, the Z0h under the other schemes showed obvious diurnal variation characteristics, and H was positively sensitive to Z0h, while LE was the opposite. Consequently, the optimal Z0h schemes are of great application value for further comparative analysis of the water and heat exchange process between the Grand Canyon land surface and the atmosphere, to better reveal the mechanism of land-atmosphere interactions in the YGC.
Physical property differences of source rocks in the Lucaogou Formation and adsorption ability variation under their influence
Authors: Ge Dongfeng , Lv Dawei , Yao Peng , Wen Shupeng , Li Jiahui , Lei Guoming 
Published: January 2023

Shale gas exploration is very important for the China in the further. There are many findings of shale gas in Northwest China, especially in Junggar Basin Permian Lucaogou Formation of the Xinjiang Uygur Autonomous Region. However the basic geological characteristics of Lucaogou Formation is not still clear. In order to solve this problems, Quanzijie shale gas collected from the southern margin of the Junggar Basin is taken as the study area, and shale gas resources are investigated and evaluated using the organic-rich shale section. On this basis, the investigation and evaluation of shale gas resources in the Lucaogou Formation is performed. The reservoir performance, preservation conditions, compressibility, and gas-bearing properties of gas-bearing shale intervals are identified. The results are as follows: The vertical and horizontal lithological and lithofacies variations of the source rocks of the Lucaogou Formation are clarified. This layer is characterized by the upward thinning of grain size and the upward darkening of color in the vertical direction. The layer can be divided into upper and middle-lower sections, with organic shale being most developed in the upper section, and sandstone and dolomite being more developed in the middle and lower area. The main hydrocarbon source rocks are developed in the upper area of the Lucaogou Formation. The total thickness of the hydrocarbon source rocks is 78.12–513.73 m. The lithology is mainly gray-black shale, silty mudstone, and oil shale. The average organic carbon content is 4.86%. The maturity of the organic matter is mainly 0.7–0.8%. The shale reservoirs have a high content of brittle minerals, but the physical properties both of the shale and sandstone reservoirs are poor. These are generally ultra-low porosity and ultra-low permeability reservoirs, in which the oil and gas reservoir space is mainly fractures.
Differential relations among expectancy, task value, engagement, and academic performance: The role of generation status
Authors: Edwards Ordene V. , Dai Ting 
Published: January 2023

IntroductionWe investigated differences in domain-general expectancy, value, and engagement in school by generation status and how the relationship among these constructs and academic performance differ by generation status.MethodsA total of 573 college students enrolled in introductory psychology courses participated in the study. We collected data on generation status, expectancy-value beliefs, school engagement, and official GPA data from participants, tested measurement invariance of expectancy-value beliefs and engagement between first-generation college students (FGCS) and continuing generation college students (CGCS), and conducted multigroup modeling to understand the differential relations of expectancy-value, engagement, and GPA between the two groups.ResultsWe discovered that the latent mean of expectancy beliefs differed significantly by generation status, with FGCS reporting higher expectancy than CGCS. There were no differences in the latent mean of task value. Multigroup structural equation modeling revealed that the effect of expectancy-value motivation on behavioral engagement was similar across groups, but its effect on cognitive engagement was greater for the FGCS than for the CGCS. For both groups, expectancy impacted academic performance via behavioral engagement. Finally, neither expectancy-value motivation nor cognitive engagement directly predicted academic performance for either group.DiscussionThe findings have important theoretical implications for understanding motivation and achievement of FGCS and CGCS and critical practical implications regarding undergraduate education.
The relationship between sugar-sweetened beverages, sleep disorders, and diabesity
Authors: Zhang Yi , Liu Chao , Xu Yijing , Wang Yanlei , Zhang Yulin , Jiang Tian , Zhang Qiu ,   the China National Diabetic Chronic Complications Study Group
Published: January 2023

BackgroundDiabetes and obesity in adults are global issues. Obesity and type 2 diabetes mellitus (T2DM) are increasingly categorized under the umbrella term “diabesity.” Health risk factors (HRFs), which include altering sleep habits and reducing sugar-sweetened beverages (SSBs) consumption, have emerged as relatively novel and crucial strategies for preventing and treating diabetes.ObjectiveWe aimed to explore: 1) whether SSBs could affect diabesity in China’s community; 2) whether HRFs could moderate this relationship; and 3) whether a three-way interaction exists between HRFs, SSBs, and diabesity.MethodsOn December 10, 2018, we investigated diabetes complications in four cities in Anhui Province and obtained basic and lifestyle information using a detailed questionnaire. The primary exposure was SSBs and outcomes were body mass index (BMI) and waist circumference (WC), while glycated hemoglobin (HbA1c) and sleep patterns (including duration and disorders) were considered moderators.ResultsOverall, 1920 participants were enrolled, and those who did not complete the questionnaire were excluded. Finally, this study included 1765 participants, with a response rate of 92.0%. The mean age was (57.10 ± 10.0) years. Patients with lower educational levels were more likely to have a lower prevalence of WC (χ2 = 2.73) and BMI (χ2 = 3.47), and some HRFs were positively correlated with WC and BMI. Additionally, SSBs were significantly associated with BMI (β = 1.29) and WC (β = 2.97), and there was also differences based on sex, some HRFs, such as HbA1c, FBG and TG, showed higher levels in male participants, whereas TC level was higher in female participants. In the moderation analysis, sleep patterns were also associated with total cholesterol, triglyceride, and BMI. Furthermore, there were three-way interaction effects among HbA1c, sleep patterns, and SSBs on total cholesterol, triglyceride, BMI, and WC. Moreover, sensitivity analysis demonstrated that our results were robust.ConclusionSSBs positively correlated with patterns dose-dependently. Moreover, SSBs could also be associated with sleep patterns, and blood glucose levels were correlated with diabesity. A three-way interaction effect was discovered between SSBs, sleep patterns, blood glucose levels, and patterns. Therefore, understanding the diabesity caused by SSBs and other HRFs can help prevent its occurrence.
Neck-to-height ratio is positively associated with diabetic kidney disease in Chinese patients with type 2 diabetes mellitus
Authors: He Zhi-Ying , Gu Xiao , Du Lin-Jia , Hu Xiang , Zhang Xing-Xing , Yang Li-Juan , Li Ying-Qian , Li Jing , Pan Lin-Yu , Yang Bo , Gu Xue-Jiang , Lin Xiu-Li 
Published: January 2023

IntroductionThe aim of this study was to investigate the associations of neck circumference (NC) and neck-to-height (NHR) with diabetic kidney disease (DKD) in Chinese patients with type 2 diabetes mellitus (T2DM).Materials and methodsA total of 2,615 patients with prevalent T2DM were enrolled. NHR was calculated through NC (cm) divided by height (cm), and prevalent DKD was defined as the urinary albumin-to-creatinine ratio (UACR) ≥ 30 mg/g or the estimated glomerular filtration rate (eGFR) &lt; 60 ml/min per 1.73 m2 in the absence of other primary kidney diseases.ResultsThe levels of NC and NHR were higher in DKD patients compared with non-DKD patients (38.22 vs. 37.71, P = 0.003; 0.232 vs. 0.227, P &lt; 0.001, respectively). After full adjustments, individuals at the highest tertile of NHR had higher odds of DKD than those at the lowest tertile (multivariate-adjusted OR = 1.63, 95% CI: 1.22, 2.18), but this association was not pronounced with NC (multivariate-adjusted OR = 1.24, 95% CI: 0.87, 1.76). Individuals at the highest tertile of NHR had lower eGFR (β = -4.64, 95% CI: -6.55, -2.74) and higher UACR levels (β = 0.27, 95% CI: 0.10, 0.45) than those at the lowest tertile. The adverse association between NHR and prevalent DKD remained statistically significant among most of the subgroups analyzed and no interaction effects were observed.ConclusionThe increase in NHR was adversely and independently associated with DKD in this Chinese T2DM population.
The frequency of differentiated CD3+CD27-CD28- T cells predicts response to CART cell therapy in diffuse large B-cell lymphoma
Authors: Worel Nina , Grabmeier-Pfistershammer Katharina , Kratzer Bernhard , Schlager Martina , Tanzmann Andreas , Rottal Arno , Körmöczi Ulrike , Porpaczy Edit , Staber Philipp B. , Skrabs Cathrin , Herkner Harald , Gudipati Venugopal , Huppa Johannes B. , Salzer Benjamin , Lehner Manfred , Saxenhuber Nora , Friedberg Eleonora , Wohlfarth Philipp , Hopfinger Georg , Rabitsch Werner , Simonitsch-Klupp Ingrid , Jäger Ulrich , Pickl Winfried F. 
Published: January 2023

BackgroundChimeric antigen receptor T (CART) cell therapy targeting the B cell specific differentiation antigen CD19 has shown clinical efficacy in a subset of relapsed/refractory (r/r) diffuse large B cell lymphoma (DLBCL) patients. Despite this heterogeneous response, blood pre-infusion biomarkers predicting responsiveness to CART cell therapy are currently understudied.MethodsBlood cell and serum markers, along with clinical data of DLBCL patients who were scheduled for CART cell therapy were evaluated to search for biomarkers predicting CART cell responsiveness.FindingsCompared to healthy controls (n=24), DLBCL patients (n=33) showed significant lymphopenia, due to low CD3+CD4+ T helper and CD3-CD56+ NK cell counts, while cytotoxic CD3+CD8+ T cell counts were similar. Although lymphopenic, DLBCL patients had significantly more activated HLA-DR+ (P=0.005) blood T cells and a higher frequency of differentiated CD3+CD27-CD28- (28.7 ± 19.0% versus 6.6 ± 5.8%; P&lt;0.001) T cells. Twenty-six patients were infused with CART cells (median 81 days after leukapheresis) and were analyzed for the overall response (OR) 3 months later. Univariate and multivariate regression analyses showed that low levels of differentiated CD3+CD27-CD28- T cells (23.3 ± 19.3% versus 35.1 ± 18.0%) were independently associated with OR. This association was even more pronounced when patients were stratified for complete remission (CR versus non-CR: 13.7 ± 11.7% versus 37.7 ± 17.4%, P=0.001). A cut-off value of ≤ 18% of CD3+CD27-CD28- T cells predicted CR at 12 months with high accuracy (P&lt;0.001). In vitro, CD3+CD8+CD27-CD28- compared to CD3+CD8+CD27+CD28+ CART cells displayed similar CD19+ target cell-specific cytotoxicity, but were hypoproliferative and produced less cytotoxic cytokines (IFN-γ and TNF-α). CD3+CD8+ T cells outperformed CD3+CD4+ T cells 3- to 6-fold in terms of their ability to kill CD19+ target cells.InterpretationLow frequency of differentiated CD3+CD27-CD28- T cells at leukapheresis represents a novel pre-infusion blood biomarker predicting a favorable response to CART cell treatment in r/r DLBCL patients.