bluuebunny/crossref_metadata_2025_split huggingface dataset:
Get to the heart of pediatric kidney transplant recipients: Evaluation of left- and right ventricular mechanics by three-dimensional echocardiography
Authors: Ladányi Zsuzsanna , Bárczi Adrienn , Fábián Alexandra , Ujvári Adrienn , Cseprekál Orsolya , Kis Éva , Reusz György Sándor , Kovács Attila , Merkely Béla , Lakatos Bálint Károly 
Published: March 2023

BackgroundKidney transplantation (KTX) markedly improves prognosis in pediatric patients with end-stage kidney failure. Still, these patients have an increased risk of developing cardiovascular disease due to multiple risk factors. Three-dimensional (3D) echocardiography allows detailed assessment of the heart and may unveil distinct functional and morphological changes in this patient population that would be undetectable by conventional methods. Accordingly, our aim was to examine left- (LV) and right ventricular (RV) morphology and mechanics in pediatric KTX patients using 3D echocardiography.Materials and methodsPediatric KTX recipients (n = 74) with median age 20 (14–26) years at study enrollment (43% female), were compared to 74 age and gender-matched controls. Detailed patient history was obtained. After conventional echocardiographic protocol, 3D loops were acquired and measured using commercially available software and the ReVISION Method. We measured LV and RV end-diastolic volumes indexed to body surface area (EDVi), ejection fraction (EF), and 3D LV and RV global longitudinal (GLS) and circumferential strains (GCS).ResultsBoth LVEDVi (67 ± 17 vs. 61 ± 9 ml/m2; p &lt; 0.01) and RVEDVi (68 ± 18 vs. 61 ± 11 ml/m2; p &lt; 0.01) were significantly higher in KTX patients. LVEF was comparable between the two groups (60 ± 6 vs. 61 ± 4%; p = NS), however, LVGLS was significantly lower (−20.5 ± 3.0 vs. −22.0 ± 1.7%; p &lt; 0.001), while LVGCS did not differ (−29.7 ± 4.3 vs. −28.6 ± 10.0%; p = NS). RVEF (59 ± 6 vs. 61 ± 4%; p &lt; 0.05) and RVGLS (−22.8 ± 3.7 vs. −24.1 ± 3.3%; p &lt; 0.05) were significantly lower, however, RVGCS was comparable between the two groups (−23.7 ± 4.5 vs. −24.8 ± 4.4%; p = NS). In patients requiring dialysis prior to KTX (n = 64, 86%) RVGCS showed correlation with the length of dialysis (r = 0.32, p &lt; 0.05).ConclusionPediatric KTX patients demonstrate changes in both LV and RV morphology and mechanics. Moreover, the length of dialysis correlated with the contraction pattern of the right ventricle.
Physical property response of peri-well sediments during cementing of gas hydrate-bearing sediments in conventional oil-gas wells in the South China Sea
Authors: Wang Xiaoyu , Zheng Mingming , Zhou Kerui , Qi Qiaomu , Wu Zurui , Yan Shichun , Zeng Guoao , Ma Ting 
Published: March 2023

In order to investigate the effect of cement slurry penetration during cementing in gas hydrate-bearing sediments. In this study, gas hydrate bearing sediments in Shenhu Area of the South China Sea is taken as the research object, numerical simulation software TOUGH+HYDRATE is used to realistically reproduce the process of cement slurry exothermic and penetration by “continuous segmental simulation.” The physical properties response of sediments near the well wall during cementing under different cementing process parameters and sediment geological parameters are well studied. Results show that the hydration exothermic rate of cement slurry has significant influence on the decomposition degree of hydrate in the penetration area, when it is higher than 0.21 J·(g·s)−1, the hydrate in the penetration range is completely decomposed. The cementing pressure difference affects the cement slurry penetration depth, the extent of sediment pressurization and heat-up, which in turn affects the range of the decomposition zones. In addition, it is helpful to increase pore pressure and hydrate phase equilibrium, but it should be strictly controlled within the window of sediment fracture pressure. Extending the holding time of cementing pressure difference expands the heat-up and decomposition zones, but also delays the onset of hydrate decomposition. Higher saturation prevents the penetration of cement slurry and weakens the diffusion of pore pressure, which causes the shrinkage of the heat-up and decomposition zones, and makes higher pressure in the decomposition zone. The hydrate phase equilibrium environment directly determines the resistance of hydrate sediments to perturbation, with insignificant changes in physical properties in stable sediments. The permeability affects the transport efficiency of pore fluid and expands the heat-up zone and decomposition zone, but also weakens the pore pressure peak of sediment, the increase of permeability from 1 to 100 mD expands the decomposition zone from 1 to 10 cm. The porosity has a less significant effects on the extent of sediment physical properties. This study is a valuable guide and reference for hydrate sediment cementing operations.
Distribution of ancient landslides and landslide hazard assessment in the Western Himalayan Syntaxis area
Authors: Cui Yulong , Yang Wenhao , Xu Chong , Wu Shuai 
Published: March 2023

The Western Himalayan Syntaxis area is located near the Pamir Plateau. The geological structure is active and geological disasters occur frequently in this area. In this study, we employed the Google Earth platform and visual interpretation to identify ancient landslides in the region and to establish a regional ancient landslide database. Then, nine landslide-influencing factors (elevation, slope, aspect, curvature, distance to the river, distance to a glacier, lithology, distance to fault and distance to the epicenter of earthquakes above magnitude 5) were examined using ArcGIS software. The spatial distribution of landslides were analyzed statistically. Finally, an IV model and WoE model were used to evaluate the regional landslide hazard and the evaluation results were verified via a confusion matrix and a receiver operating characteristic (ROC) curve. The landslide database contained 7,947 landslides in this area with a total area of 3747.27 km2. Landslides were mostly developed at an elevation of 4,000–5,000 m, a slope of 15–25°, a north aspect, curvature of −0.33 to 0.33, distance to the water system of 1,000–2000 m, distance to a glacier of 2000–5,000 m, Permian sandstone, siltstone, argillaceous sandstone and Triassic siltstone, conglomerate and fine conglomerate, and distance to a fault of 20,000–50,000 m. The accuracy of the IV and WoE models was relatively high. The comprehensive accuracy of the confusion matrix of the two models was above 70% and the AUC value of the ROC curve was above 75%. The landslide database of the Western Himalayan Syntaxis was established and the landslide distribution and hazard assessment results can be used as a reference for landslide disaster prevention and mitigation and engineering construction planning in this area.
Investigating the association between fasting insulin, erythrocytosis and HbA1c through Mendelian randomization and observational analyses
Authors: Nguyen Anthony , Khafagy Rana , Hashemy Habiba , Kuo Kevin H. M. , Roshandel Delnaz , Paterson Andrew D. , Dash Satya 
Published: March 2023

BackgroundInsulin resistance (IR) with associated compensatory hyperinsulinemia (HI) are early abnormalities in the etiology of prediabetes (preT2D) and type 2 diabetes (T2D). IR and HI also associate with increased erythrocytosis. Hemoglobin A1c (HbA1c) is commonly used to diagnose and monitor preT2D and T2D, but can be influenced by erythrocytosis independent of glycemia.MethodsWe undertook bidirectional Mendelian randomization (MR) in individuals of European ancestry to investigate potential causal associations between increased fasting insulin adjusted for BMI (FI), erythrocytosis and its non-glycemic impact on HbA1c. We investigated the association between the triglyceride-glucose index (TGI), a surrogate measure of IR and HI, and glycation gap (difference between measured HbA1c and predicted HbA1c derived from linear regression of fasting glucose) in people with normoglycemia and preT2D.ResultsInverse variance weighted MR (IVWMR) suggested that increased FI increases hemoglobin (Hb, b=0.54 ± 0.09, p=2.7 x 10-10), red cell count (RCC, b=0.54 ± 0.12, p=5.38x10-6) and reticulocyte (RETIC, b=0.70 ± 0.15, p=2.18x10-6). Multivariable MR indicated that increased FI did not impact HbA1c (b=0.23 ± 0.16, p=0.162) but reduced HbA1c after adjustment for T2D (b=0.31 ± 0.13, p=0.016). Increased Hb (b=0.03 ± 0.01, p=0.02), RCC (b=0.02 ± 0.01, p=0.04) and RETIC (b=0.03 ± 0.01, p=0.002) might modestly increase FI. In the observational cohort, increased TGI associated with decreased glycation gap, (i.e., measured HbA1c was lower than expected based on fasting glucose, (b=-0.09 ± 0.009, p&lt;0.0001)) in people with preT2D but not in those with normoglycemia (b=0.02 ± 0.007, p&lt;0.0001).ConclusionsMR suggests increased FI increases erythrocytosis and might potentially decrease HbA1c by non-glycemic effects. Increased TGI, a surrogate measure of increased FI, associates with lower-than-expected HbA1c in people with preT2D. These findings merit confirmatory studies to evaluate their clinical significance.
Identification of LTBP2 gene polymorphisms and their association with thoracolumbar vertebrae number, body size, and carcass traits in Dezhou donkeys
Authors: Liu Ziwen , Wang Tianqi , Shi Xiaoyuan , Wang Xinrui , Ren Wei , Huang Bingjian , Wang Changfa 
Published: March 2023

The number of thoracolumbar vertebrae in Dezhou donkeys varies from 22 to 24 and is associated with body size and carcass traits. In mammals, the latent transforming growth factor beta binding protein 2 (LTBP2) has been found to have some functions in the development of thoracolumbar vertebrae. The relationship between LTBP2 and TLN (the number of thoracolumbar vertebrae) of Dezhou donkeys is yet to be reported. The purposes of this study are as follows: 1) to quantify the effect of thoracolumbar vertebrae number variation of Dezhou donkeys on body size and carcass trait; 2) to study the distribution of single nucleotide variants (SNVs) in the LTBP2 gene of Dezhou donkeys; and 3) to explore whether these SNVs can be used as candidate sites to study the mechanism of Dezhou donkey muti-thoracolumbar vertebrae development. The TLN, body size, and carcass traits of 392 individuals from a Dezhou donkey breed were recorded. All animals were sequenced for LTBP2 using GBTS liquid chip and 16 SNVs were used for further analysis. We then analyzed the relationship between these SNVs with TLN, body size, and carcass traits. The results showed that: 1) c.5547 + 860 C &gt; T, c.5251 + 281 A &gt; C, c.3769 + 40 C &gt; T, and c.2782 + 3975 A &gt; G were complete genetic linkages and significantly associated with thoracic vertebrae number (TN) (p &lt; 0.05) (wild-type homozygotes had more TN than heterozygotes); 2) c.1381 + 768 T &gt; G and c.1381 + 763 G &gt; T were significantly associated with lumber vertebrae number (LN) (p &lt; 0.05); 3) c.1003 + 704 C &gt; T, c.1003 + 651 C &gt; T, c.1003 + 626 A &gt; G, and c.812 + 22526 T &gt; G were significantly associated with chest circumference (CHC), front carcass weight (CWF), after carcass weight (CWA), and carcass weight (CW) (p &lt; 0.05) (wild-type homozygotes were larger than other genotypes in CHC, CWF, CWA, and CW); and 4) the effect of variation is not consistent in c.565 + 11921 A &gt; G, c.565 + 6840 A &gt; G, c.565 + 3453 C &gt; T, and c.494 + 5808 C &gt; T. These results provide useful information that the polymorphism of LTBP2 is significantly associated with TLN, body size, and carcass traits in Dezhou donkeys, which can serve as a molecule marker to improve donkey production performance.
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families
Authors: Fang Yuying , Li Shuo , Yu Dongyi 
Published: March 2023

Background: To describe the genetic variation of dynein cytoplasmic 2 heavy chain 1 (DYNC2H1) gene in four Chinese families affected with short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3), and to provide evidence for accurate prenatal diagnosis and genetic counseling.Methods: The detailed clinical prenatal sonographic features of four fetuses with SRTD3 were carried out. Trio-whole exome sequencing (WES) and proband-WES sequencing was applied to filtrated causative variants in four families. The causative variants of each family were validated in by Sanger sequencing. Bioinformation analysis was applied to predict the harmfulness of these mutations and perform the protein-protein interaction network and Gene Ontology (GO) analysis. A vitro minigene splicing assay was conducted to assess the influence of the splice site variant.Results: Typical characterization of the four fetuses included short long bones, short ribs, narrow chest, hand and foot posture abnormalities, femur short in diameter and slightly bowing, cardiac abnormalities, and so on. Moreover, eight compound heterozygous variants of DYNC2H1 (NM_001080463.2): c.3842A&gt;C (p.Tyr1281Ser) and c.8833-1G&gt;A, c.8617A&gt;G (p.Met2873Val) and c.7053_7054del (p.Cys2351Ter), c.5984C&gt;T (p.Ala1995Val) and c.10219C&gt;T (p.Arg3407Ter), c.5256del (p.Ala1753GlnfsTer13) and c.9737C&gt;T (p.Thr3246Ile), were identified. Among which, c.10219C&gt;T (p.Arg3407Terp), c.5984C&gt;T (p.Ala1995Val) and c.9737C&gt;T (p.Thr3246Ile) were reported in ClinVar databases, and c.8617A&gt;G (p.Met2873Val), c.10219C&gt;T (p.Arg3407Ter), c.5984C&gt;T (p.Ala1995Val) were found in HGMD databases. Four variants (c.3842A&gt;C (p.Tyr1281Ser), c.8833-1G&gt;A, c.7053_7054del (p.Cys2351Ter) and c.5256del (p.Ala1753GlnfsTer13) were first reported as novel mutations. According to the ACMG guidelines, c.8617A&gt;G (p.Met2873Val), c.7053_7054del (p.Cys2351Ter), c.5984C&gt;T (p.Ala1995Val), c.10219C&gt;T (p.Arg3407Ter) and c.5256del (p.Ala1753GlnfsTer13) were rated as pathogenic or likely pathogenic variants, others variants were predicted to be variants of uncertain significance mutations. The minigene assay results indicated that c.8833-1G&gt;A caused the skipping over exon 56, resulting in exon 56 loss.Conclusion: In our study, we analyzed the genetic mutations in four fetuses with SRTD3 by whole exome sequencing and identified pathogenic variants causing SRTD3. Our results expand the mutation spectrum of DYNC2H1 in SRTD3, which is helpful for the accurate prenatal diagnosis of SRTD3 fetuses and provide useful strategies for genetic counseling.
Histone acetylation-related IncRNA: Potential biomarkers for predicting prognosis and immune response in lung adenocarcinoma, and distinguishing hot and cold tumours
Authors: Li Rumeng , Qiu Tingting , Zhou Qiangqiang , He Fajian , Jie Chen , Zheng Xinyu , Lu Zeguang , Wu Qiuji , Xie Conghua 
Published: March 2023

BackgroundHistone acetylation-related lncRNAs (HARlncRNAs) play significant roles in various cancers, but their impact on lung adenocarcinoma (LUAD) remains unclear. This study aimed to develop a new HARlncRNA-based prognostic model for LUAD and to explore its potential biological mechanisms.MethodsWe identified 77 histone acetylation genes based on previous studies. HARlncRNAs related to prognosis were screened by co-expression, univariate and multivariate analyses, and least absolute shrinkage selection operator regression (LASSO). Afterward, a prognostic model was established based on the screened HARlncRNAs. We analysed the relationship between the model and immune cell infiltration characteristics, immune checkpoint molecule expression, drug sensitivity, and tumour mutational burden (TMB). Finally, the entire sample was divided into three clusters to further distinguish between hot and cold tumours.ResultsA seven-HARlncRNA-based prognostic model was established for LUAD. The area under the curve (AUC) of the risk score was the highest among all the analysed prognostic factors, indicating the accuracy and robustness of the model. The patients in the high-risk group were predicted to be more sensitive to chemotherapeutic, targeted, and immunotherapeutic drugs. It was worth noting that clusters could effectively identify hot and cold tumours. In our study, clusters 1 and 3 were considered hot tumours that were more sensitive to immunotherapy drugs.ConclusionWe developed a risk-scoring model based on seven prognostic HARlncRNAs that promises to be a new tool for evaluating the prognosis and efficacy of immunotherapy in patients with LUAD.
Impact of chronic alcohol exposure on conventional and regulatory murine T cell subsets
Authors: Paterson Cameron W. , Gutierrez Melissa B. , Coopersmith Craig M. , Ford Mandy L. 
Published: March 2023

IntroductionChronic alcohol use poses significant negative consequences to public health and, among its many biologic effects, is associated with significant T cell dysregulation within the adaptive immune system that has yet to be fully characterized. Novel, automated strategies for high dimensional flow cytometric analysis of the immune system are rapidly improving researchers’ ability to detect and characterize rare cell types.MethodsUsing a murine model of chronic alcohol ingestion in conjunction with viSNE and CITRUS analysis tools, we performed a machine-driven, exploratory analysis comparing rare splenic subpopulations within the conventional CD4+, regulatory CD4+ and CD8+ T cell compartments between alcohol- and water-fed animals.ResultsWhile there were no differences in the absolute numbers of bulk CD3+ T cells, bulk CD4+ T cells, bulk CD8+ T cells, Foxp3- CD4+ conventional T cells (Tconv) or Foxp3+ CD4+ regulatory T cells (Treg), we identified populations of naïve Helios+ CD4+Tconv and naïve CD103+ CD8+ splenic T cells that were decreased in chronically alcohol exposed mice versus water-fed controls. In addition, we identified increased CD69+ Treg and decreased CD103+ effector regulatory T cell (eTreg) subsets in conjunction with increased frequency of a population that may represent a transitional phenotype between central regulatory T cell (cTreg) and eTreg.DiscussionThese data provide further resolution into the character of decreased naïve T cell populations known to be present in alcohol exposed mice, as well as describe alterations in effector regulatory T cell phenotypes associated with the pathogenesis of chronic alcohol-induced immune dysfunction.
Co-regulation of Sox9 and TGFβ1 transcription factors in mesenchymal stem cells regenerated the intervertebral disc degeneration
Authors: Khalid Shumaila , Ekram Sobia , Ramzan Faiza , Salim Asmat , Khan Irfan 
Published: March 2023

BackgroundIntervertebral disc (IVD) shows aging and degenerative changes earlier than any other body connective tissue. Its repair and regeneration provide a considerable challenge in regenerative medicine due to its high degree of infrastructure and mechanical complexity. Mesenchymal stem cells, due to their tissue resurfacing potential, represent many explanatory pathways to regenerate a tissue breakdown.MethodsThis study was undertaken to evaluate the co-regulation of Sox9 and TGFβ1 in differentiating human umbilical cord mesenchymal stem cells (hUC-MSC) into chondrocytes. The combinatorial impact of Sox9 and TGFβ1 on hUC-MSCs was examined in vitro by gene expression and immunocytochemical staining. In in vivo, an animal model of IVD degeneration was established under a fluoroscopic guided system through needle puncture of the caudal disc. Normal and transfected MSCs were transplanted. Oxidative stress, pain, and inflammatory markers were evaluated by qPCR. Disc height index (DHI), water content, and gag content were analyzed. Histological examinations were performed to evaluate the degree of regeneration.ResultshUC-MSC transfected with Sox9+TGFβ1 showed a noticeable morphological appearance of a chondrocyte, and highly expressed chondrogenic markers (aggrecan, Sox9, TGFβ1, TGFβ2, and type II collagens) after transfection. Histological observation demonstrated that cartilage regeneration, extracellular matrix synthesis, and collagen remodeling were significant upon staining with H&amp;E, Alcian blue, and Masson's trichrome stain on day 14. Additionally, oxidative stress, pain, and inflammatory markers were positively downregulated in the animals transplanted with Sox9 and TGFβ1 transfected MSCs.ConclusionThese findings indicate that the combinatorial effect of Sox9 and TGFβ1 substantially accelerates the chondrogenesis in hUC-MSCs. Cartilage regeneration and matrix synthesis were significantly enhanced. Therefore, a synergistic effect of Sox9 and TGFβ1 could be an immense therapeutic combination in the tissue engineering of cartilaginous joint bio-prostheses and a novel candidate for cartilage stabilization.
Conserved longitudinal alterations of anti-S-protein IgG subclasses in disease progression in initial ancestral Wuhan and vaccine breakthrough Delta infections
Authors: Goh Yun Shan , Fong Siew-Wai , Hor Pei Xiang , Amrun Siti Naqiah , Lee Cheryl Yi-Pin , Young Barnaby Edward , Chia Po Ying , Tambyah Paul A. , Kalimuddin Shirin , Pada Surinder , Tan Seow-Yen , Sun Louisa Jin , Chen Mark I-Cheng , Leo Yee-Sin , Lye David C. , Ng Lisa F. P. , Renia Laurent 
Published: March 2023

IntroductionCOVID-19 has a wide disease spectrum ranging from asymptomatic to severe. While humoral immune responses are critical in preventing infection, the immune mechanisms leading to severe disease, and the identification of biomarkers of disease progression and/or resolution of the infection remains to be determined.MethodsPlasma samples were obtained from infections during the initial wave of ancestral wildtype SARS-CoV-2 and from vaccine breakthrough infections during the wave of Delta variant, up to six months post infection. The spike-specific antibody profiles were compared across different severity groups and timepoints.ResultsWe found an association between spike-specific IgM, IgA and IgG and disease severity in unvaccinated infected individuals. In addition to strong IgG1 and IgG3 response, patients with severe disease develop a robust IgG2 and IgG4 response. A comparison of the ratio of IgG1 and IgG3 to IgG2 and IgG4 showed that disease progression is associated with a smaller ratio in both the initial wave of WT and the vaccine breakthrough Delta infections. Time-course analysis revealed that smaller (IgG1 and IgG3)/(IgG2 and IgG4) ratio is associated with disease progression, while the reverse associates with clinical recovery.DiscussionWhile each IgG subclass is associated with disease severity, the balance within the four IgG subclasses may affect disease outcome. Acute disease progression or infection resolution is associated with a specific immunological phenotype that is conserved in both the initial wave of WT and the vaccine breakthrough Delta infections.