bluuebunny/crossref_metadata_2025 huggingface dataset:
Case report: Rare novel MIPEP compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant
Authors: Wang Ling , Lu Pengtao , Yin Jie , Xu Kangkang , Xiang Dandan , Zhang Zhongman , Zhang Han , Zheng Bixia , Zhou Wei , Wang Chunli , Yang Shiwei
Published: January 2023

Background

Mitochondrial intermediate peptidase, encoded by the MIPEP gene, is involved in the processing of precursor mitochondrial proteins related to oxidative phosphorylation. Only a few studies have shown that mutations in MIPEP can cause combined oxidative phosphorylation deficiency-31 (COXPD31), an autosomal recessive multisystem disorder associated with mitochondrial dysfunction. We report herein a rare case of an 8-month-old boy in China with hypertrophic cardiomyopathy (HCM), severe lactic acidosis, and hypotonia caused by novel MIPEP compound heterozygous variants.

Methods

Trio-whole-exome sequencing and copy number variation sequencing were performed to identify mutated genetic loci. Sanger sequencing and quantitative real-time PCR were used to validate the candidate single nucleotide variants and copy number variants, respectively.

Results

The proband was an 8-month-old boy with HCM, severe lactic acidosis, and hypotonia who died 2 months after his first admission. Two novel compound heterozygous variants, c.1081T > A (p. Tyr361Asn) and a whole deletion (Ex1-19 del), were found in the MIPEP gene, which were inherited from his healthy parents respectively. Additionally, his mitochondria DNA copy number was significantly reduced.

Conclusion

We are the first to report a patient with rare MIPEP variants in China. Our findings expand the mutation spectrum of MIPEP, and provide insights into the genotype-phenotype relationship in COXPD31.
A new method for identifying micro fractures and characterizing fractures of different scales
Authors: Fu Zheng , Lu Shuangfang , Wang Huijun
Published: January 2023

Oil and gas exploration professionals have begun to focus more on unconventional oil and gas reserves in recent years as a result of their increased efforts. Fractures have a significant impact on the permeability and connectivity of reservoirs as a crucial component of rock mechanics and hydraulics, which directly affects the production of oil and gas. The identification of fracture development zones or micro faults, as well as how to adequately define the fracturing model, have thus become crucial and pressing issues in the forecast of oil and gas reservoirs. In this study, we decompose the three-dimensional seismic data volume in a site in order to obtain the single frequency data volume that can be calculated using the ant tracking technique. We do this by taking advantage of the synchronous extrusion improvement of short time Fourier transform in time-frequency focusing. Coupled with the advanced DFN model, the extracted data are calibrated in various rock attributes to restore the morphology and characteristics of fractures. The findings demonstrate that this method is capable of providing not only a precise outline of micro fractures but also a reflection of the characteristics of fractures at various scales, including structure and associated properties. The precision and applicability of this method are confirmed in this paper, which is significant as a reference for the oil and gas exploration industry.
In situ stress distribution law of fault zone in tunnel site area based on the inversion method with optimized fitting conditions
Authors: Li Tiansheng , Chen Ziquan , Zhou Zihan , Bao Yeming
Published: January 2023

Tunnel construction in high geo-stress strata faces the risk of extreme natural disasters such as large squeezing deformation and rockburst. Therefore, it is of great significance to adopt a high-precision inversion method to investigate the distribution law of in situ stress in the tunnel site area. In this paper, the in situ stress inversion research was carried out based on a plateau tunnel with a buried depth of more than 1000 m. The idea of improving the inversion accuracy by unifying displacement constraints was proposed by aiming at the defects of the traditional method on the boundary conditions. Furthermore, the impact of the constant term in the regression model on the fitting accuracy was discussed. According to the inversion method with optimized fitting conditions, the in situ stress distribution characteristics in the tunnel site area were obtained, and the variation law of the in situ stress near the fault zone was discussed. The results showed that after unifying displacement constraints, the comprehensive inversion accuracy comprehensive indicator reflecting the inversion accuracy decreased from 15.291 to 12.895, indicating that the inversion error was effectively controlled. Whether the constant term should be retained had a random effect on the inversion accuracy, so it was recommended that this issue be independently verified when fitting the data. When approaching the inner side of the fault from the outer side, the in situ stress first increased slightly and then decreased significantly. Moreover, the wider the fault impact zone and the farther the fault distribution distance, the more significant the amplitude of stress change, e.g., the maximum amplitude of stress change reached 9.0 MPa. In addition, the in situ stress orientation near the fault can be significantly deflected. And the wider the fault impact zone, the more pronounced the deflection.
Elemental data for Gonghai Lake sediments show significant effects of human activities on weathering processes after 1550 CE
Authors: Jiang Hong , Han Yongming , Tang Yalan , Fan Huimin , Liu Bo , Arimoto Richard
Published: January 2023

The international Anthropocene Working Group has recognized the mid-20th centrury (ca. 1950 CE) as the onset of the Anthropocene, but human activities in China altered the land cover and influenced weathering processes much earlier. Changes in the elemental composition of sediment since 1000 CE from Gonghai Lake were studied, using X-ray Fluorescence element scanning (average time-resolution 3 years), to investigate the human impacts on weathering over time. We found that aluminum (Al) and calcium (Ca) containing minerals vary in the resistance to chemical weathering, and the concentrations of Al and Ca provide insights into the intensities of mechanical and chemical weathering respectively. The correlations between Al and Ca concentrations in these two periods, 1000–1550 CE and 1550–1950 CE changed from negative to positive, owing to that agricultural activities evidently enhanced both mechanical and chemical weathering during the latter stage. In addition, the Al and Ca concentrations recorded a border reclamation project in the 16th century and two catastrophic population decreases from 1630s to 1640s and 1850s–1870s. After 1950 CE, the concentrations of Al and Ca became uncorrelated, because weathering processes around Gonghai Lake were impacted by the enhanced anthropogenic perturbations in the Anthropocene.
Fluorine speciation and origin of Early-Middle Triassic bentonite deposits in Sichuan Basin, South China
Authors: Lin Yongjie , Zheng Mianping , Zhang Yongsheng , Xing Enyuan
Published: January 2023

Fluorine (F) is one of the most important environmentally harmful elements released by volcanic activity, and the bentonite deposits that formed from volcanic ashes are potentially harmful to the environment. However, the mechanisms governing F-rich bentonite formation and its F speciation composition remain enigmatic. The F-rich bentonite deposits are widely distributed in the Early-Middle Strata of the Sichuan Basin, South China. Detailed mineralogical and geochemical studies were conducted on the bentonite deposits from five sections of the Sichuan Basin. X-ray diffraction (XRD) analyses indicate that the F-rich bentonites mainly contain quartz, carbonates (calcite and dolomite) or gypsum, and clay minerals, while the clay minerals are dominated by illite and illite/smectite (I/S). Clay mineralogical studies suggest that bentonites were transformed from volcanic ashes during diagenesis by smectite illitization. The major and trace element distribution in F-rich bentonite deposits altered from volcanic ashes is most likely derived from felsic magmas, and alteration of the parent rocks (e.g., rhyolites) to bentonite is associated with leaching and subsequent removal of F. The total fluorine content (FTOT) of the bentonite samples ranged from 1,162 mg/kg to 2,604 mg/kg (average = 1773 mg/kg), well above the average FTOT contents of soils in the world. The results of the sequential extraction experiments show that the highest content is residual-fluorine (Fres), followed by carbonate-fluorine (Fcar) with a mean value of 1,556 mg/kg and 186 mg/kg, indicating carbonate is an important F sink in bentonite deposits. The average fluorine value of organic fluorine (For), Fe/Mn oxide-fluorine (Ffm) and exchangeable fluorine (Fex) are relatively low with an average value of 17.5 mg/kg, 6.8 mg/kg and 4.1 mg/kg, respectively. However, water-soluble fluorine (Fws) has a mean value of 4.0 mg/kg, which is higher than the corresponding average value in soils in an area susceptible to endemic fluorosis in China. Based on the characteristic of fluorine speciation, the fluorine in bentonite deposits may pose a risk to the environment. This study makes an important contribution to a better understanding of the characteristic of fluorine speciation in bentonites and the formation mechanism that governs fluorine enrichment in bentonites.
Investigation of cleat and micro-fracture and its aperture distribution in the coals of different ranks in North China: Relative to reservoir permeability
Authors: Huang Qiang , Du Zhigang , Liu Hewu , Niu Qinghe , Fang Huihuang , Yang Jinyang , Lou Minghang
Published: January 2023

The apertures of cleats and micro-fractures in coal play an important role in the permeability of the coal bed. In this study, optical microscopy and scanning electron microscopy were used to investigate the morphology of cleats and micro-fractures and their apertures, distribution of minerals, and matrix/fracture interactions. The neighboring mineralized and unmineralized cleats suggest the possibility of multi-stage evolutionary processes of cleat formation during the coalification process. The micro-fracture distribution of coals is closely related to their components, including organic macerals and inorganic minerals. Micro-fractures are prone to developing at the junction surface of organic macerals or the surface of organic and inorganic minerals. A mineral-genetic micro-fracture can be classified as an intra-crystal micro-fracture, an extra-crystal micro-scale fracture, or a grain-edge micro-scale fracture. Compared with the low- and middle-ranking coals, cleat and micro-scale fractures in high-ranking coal are usually filled with carbonate minerals and clay minerals. Statistical analysis reveals that the aperture distribution of cleat and micro-fracture in coal shows a log-normal distribution. The aperture of cleat and micro-fracture shows a decreasing trend with increase in coal rank. For low-ranking coal, cleats contribute more to the permeability than micro-fractures. However, for the middle- and high-ranking coals, the contribution of cleats and micro-fractures to the coal reservoir permeability will be close. As the rank of coal increases, the degree of cleat contribution to reservoir permeability decreases, while the degree of micro-fracture contributing to the reservoir permeability increases. Possible reasons for the extremely low reservoir permeability in China may be the following: 1) subsurface cleats and micro-fractures close their apertures significantly due to the in situ geo-stress or 2) cleats and micro-fractures have better permeability in the geological history, which makes the precipitation of minerals decrease the coal reservoir permeability. Therefore, the acid solvent (e.g., HAc, HCl, and HF) added to the drilling or hydraulic fracturing fluid or the geo-stress relief technologies may be an effective way of enlarging the cleat or micro-fracture aperture and enhance the reservoir permeability for coalbed methane production.
Middle Jurassic ooidal ironstones (southern Tibet): Formation processes and implications for the paleoceanography of eastern Neo-Tethys
Authors: Han Kaibo , Han Zhongpeng , Garzanti Eduardo , Zhu Shuaipeng , Yao Hanwei , Guo Huifang , Liu Xuan , Wang Chengshan
Published: January 2023

The major facies changes documented in shallow-marine sediments of the northern Indian passive margin of Neo-Tethys throughout the Jurassic, from widespread platform carbonates in the Early Jurassic to organic-rich black shales in the Late Jurassic, imply a substantial turnover in oceanic conditions. All along the Tethys (Tibetan) Himalaya, from the Zanskar Range to southern Tibet, a peculiar interval characterized by ooidal ironstones of Dingjie Formation (Ferruginous Oolite Formation, FOF) marks the base of the organic-rich Spiti Shale. This laterally-extensive ooidal ironstone interval is a fundamental testimony of the mechanisms that led to major paleoceanographic changes that occurred in the eastern Neo-Tethys during the Middle Jurassic. In this article, we illustrate in detail the petrology, mineralogy, and geochemistry of ooidal ironstones and the major element contents of the entire Lanongla section. The FOF is characterized by significantly high contents of Fe2O3 (56.80% ± 9.07%, n = 7) and P2O5 (1.72% ± 1.19%, n = 7). In contrast, the Fe2O3 and P2O5 contents average 3.58% and 0.15% in the overlain carbonates of Lanongla Fm., and 5.55% and 0.16% in the overlying Spiti Shale. The ooidal ironstones are mainly composed of iron ooids with a few quartz grains and bioclasts cemented by sparry calcite. The iron ooids consist of concentric dark layers of francolite (carbonate fluorapatite), hence enriched in Ca, P, and F, and bright layers of chamosite, enriched in Fe, Si, Al, and Mg. Precipitation of francolite ensued from oversaturation of phosphorous ascribed to intensified upwelling, high biogenous productivity, and degradation of organic matter, whereas the formation of chamosite reflects enhanced continental weathering and erosion leading to increased Fe input to the ocean during transgressive stages characterized by low sedimentation rate and scarce oxygenation at the seafloor. Modern upwelling zones in outer shelf or slope areas perform similar geochemical characteristics to those as observed in this study. Under the Mesozoic greenhouse background, fluctuating redox conditions induced the alternate growth of francolite under anoxic conditions and of chamosite under suboxic conditions. Ooids were thus formed on the seafloor during continued resuspension and vertical oscillations of the chemocline rather than from interstitial waters after burial. The mineralogy of iron ooids indicates mainly reducing conditions in the water column, suggesting that extensive upwelling along the continental margin of eastern Neo-Tethys contributed significantly to the transition from carbonate deposits to organic-rich black shales during the Jurassic, as testified by the transition from well-oxygenated in Lanongla Fm. To a reduceing condition in Spiti Shale indicated by the Mn/Al ratios compared to PAAS.
Numerical modelling of an alpine debris flow by considering bed entrainment
Authors: Qiao Zhitian , Li Tonglu , Simoni Alessandro , Gregoretti Carlo , Bernard Martino , Wu Shuangshuang , Shen Wei , Berti Matteo
Published: January 2023

Numerical models have become a useful tool for predicting the potential risk caused by debris flows. Although a variety of numerical models have been proposed for the runout simulation of debris flows, the performances of these models in simulating specific events generally vary due to the difference in solving methods and the simulation of the entrainment/deposition processes. In this paper, two typical depth-averaged models have been used to analyze a well-documented debris-flow event that occurred in the Cancia basin on 23 July 2015. The simulations with and without bed entrainment are conducted to investigate the influence of this process on the runout behavior of the debris flow. Results show that the actual runout can be reproduced only by considering bed entrainment. If basal erosion is not taken into account, part of the debris mass deviates from the main path and both models predict unrealistic bank overflows not observed in the field. Moreover, the comparison between measured and simulated inundated areas shows that both models perform generally well in the terms of simulating the erosion-deposition pattern, although the DAN3D model predicts a greater lateral spreading and a thinner depositional thickness compared to Shen’s model. A simple numerical experiment obtains similar consequences and further illustrates the possible reasons that cause these differences.
Coalbed methane accumulation, in-situ stress, and permeability of coal reservoirs in a complex structural region (Fukang area) of the southern Junggar Basin, China
Authors: Li Meng , Li Mingjie , Pan Jienan , Gao Di , Cao Yunxing
Published: January 2023

The enrichment of coalbed methane (CBM), in-situ stress field, and permeability are three key factors that are decisive to effective CBM exploration. The southern Junggar Basin is the third large CBM basin in China but is also known for the occurrence of complex geological structures. In this study, we take the Fukang area of the southern Junggar Basin as an example, coalbed methane accumulation and permeability, and their geological controls were analyzed based on the determination of geological structures, in-situ stress, gas content, permeability, hydrology and coal properties. The results indicate that gas contents of the Fukang coal reservoirs are controlled by structural framework and burial depth, and high-to-ultra-high thickness of coals has a slightly positive effect on gas contents. Perennial water flow (e.g., the Baiyanghe River) favors gas accumulation by forming a hydraulic stagnant zone in deep reservoirs, but can also draw down gas contents by persistent transportation of dissolved gases to ground surfaces. Widely developed burnt rocks and sufficient groundwater recharge make microbial gases an important gas source in addition to thermogenic gases. The in-situ stress field of the Fukang area (700–1,500 m) is dominated by a normal stress regime, characterized by vertical stress > maximum horizontal stress > minor horizontal stress. Stress ratios, including lateral stress coefficient, natural stress ratios, and horizontal principal stress ratio are all included in the stress envelopes of China. Permeability in the Fukang area is prominently partitioned into two distinct groups, one group of low permeability (0.001–0.350 mD) and the other group of high permeability (0.988–16.640 mD). The low group of permeability is significantly formulated by depth-dependent stress variations, and the high group of permeability is controlled by the relatively high structural curvatures in the core parts of synclines and the distance to the syncline core. Meanwhile, coal deformation and varying dip angles intensify the heterogeneity and anisotropy of permeability in the Fukang area. These findings will promote the CBM recovery process in China and improve our understanding of the interaction between geological conditions and reservoir parameters and in complex structural regions.
Automatic velocity picking with restricted weighted k-means clustering using prior information
Authors: Xie Junfa , Xu Xingrong , Lan Yang , Shi Xiaoqian , Yong Yundong , Wu Dunshi
Published: January 2023

Automatic picking of seismic velocity can be performed using k-means clustering. In simple k-means clustering, the number of clusters needs to be predetermined, while the picking result is affected by the initial value of each cluster center. In this study, we present an unsupervised weighted k-means clustering velocity-picking method that picks the centers of the energy clusters instead of the geometric centers of the clusters. This method works on the semblance velocity spectrum and requires an initial velocity function and three user-defined thresholds to limit the search area. The number of cluster centers and their initial times are obtained according to a rectangular signal resulting from the three thresholds, while the initial velocities of the cluster centers can be subsequently obtained using their initial times and the initial velocity function. Inaccurate selection of thresholds may merge two clusters wrongly, in which case only a stronger event is selected. In the weighted k-means clustering algorithm, weights are calculated by using the amplitudes of the velocity points. Meanwhile, points far from the center are gradually removed to ensure that each cluster center coincides with the respective energy cluster center. We also propose a method for ignoring non-primary velocities, such as multiples, by removing points that create sudden changes in the slope of the reference velocity beyond a user-defined limit. The processing of the model and real data show that the proposed seismic velocity-picking method has high efficiency and picking accuracy.
Late-Quaternary paleoearthquakes along the Liulengshan Fault on the northern Shanxi Rift system
Authors: Sun Wen , He Honglin , Shi Feng , Wei Zhanyu , Sun Haoyue , Su Peng
Published: January 2023

The Liulengshan Fault (LLSF), which lies on the northeastern edge of the Ordos Plateau, is a controlling boundary fault in the northern part of the Shanxi Rift system (SRS). The displaced landforms show that the fault has undergone strong and frequent late-Quaternary seismic activities. In 1989 and 1991, two moderate–strong earthquake swarms (Ms=6.1 and Ms=5.8) successively occurred in the LLSF, and GPS velocity shows that the areas are extending at around 1–2 mm/a. However, there is no surface-rupturing earthquake reported on the LLSF in historical records. Thus, the study of paleoseismic history and rupture behavior of paleoearthquakes in late-Quaternary on the LLSF is of fundamental importance for understanding the future seismic risk of this fault. To solve these problems, we conducted paleoseismological trench excavations at two sites on the LLSF to establish its paleoearthquake history. On the basis of the field geological survey and interpretation of high-precision topographic data, we carried out large-scale fault mapping and excavated two trenches in Xujiabao and Luofengwa across the LLSF. Then, four events in the Xujiabao trench and three events in the Luofengwa trench are identified. Finally, combined with radiocarbon dating (C14), optically stimulated luminescence (OSL) and OxCal modeling, we constrained the ages of these events. Together with the previous results of paleoseismology inYin et al. (1997), we consider that different segments of the LLSF may rupture together at the same time. Therefore, a total of six paleoearthquake events since late-Quaternary have been finally confirmed at 44,151–30881a, 40,163-28045a, 28,233-19215a, 16,742-12915a, 12,788-8252a, and 8203–2300a BP. According to the empirical relationships between moment magnitude and rupture length, the best estimated magnitude is inferred to be in the range between Mw 6.9 and Mw 7.7. Considering the strong late-Quaternary activity and a long earthquake elapsed time, we propose that the LLSF might have a high seismic hazard potential in the near future.
Experimental study on shear performance of saw-tooth rock joint with weak interlayer under different moisture contents and filling degrees
Authors: Luo Zhanyou , Zhang Yufan , Du Shigui , Huang Man , Lyu Yuanjun
Published: January 2023

Rock joints are important factors affecting natural disasters such as landslides, and weak interlayer is the decisive factor for rock joint stability. Therefore, it is necessary to carry out shear test research on rock joints with weak interlayer. In this paper, the red sandstone was used as rock joint material, and consistent saw-tooth rock joints were produced by the 3D carving technology. According to the on-site composition analysis, the weak interlayer used in the test was obtained through remodeling. Weak interlayer with different moisture contents and filling degrees were produced by the Constant Dry Mass Method (CDMM). Shear strength test of rock joint with weak interlayer of different filling degree and moisture content under multi-level normal stress was carried out by the self-developed direct shear apparatus. The test results show that peak shear strength of rock joint with weak interlayer increases firstly and then decreases with the raise of moisture content. Peak shear strength of rock joint with weak interlayer decreases firstly and then tends to a stable value with the raise of filling degree. As the filling degree of weak interlayer changes from small (less than 1.0) to large (more than 1.0), dilatancy mode of saw-tooth rock joint changes from dilatation to contraction during shearing. Peak shear strength of rock joint with weak interlayer increases with the raise of normal stress.
Associations of age, BMI, and renal function to cortisol after dexamethasone suppression in patients with adrenal incidentalomas
Authors: Olsen Henrik , Olsen Martin
Published: January 2023

Introduction

The specificity of cortisol after 1 mg dexamethasone (cortisolDST) ≥50 nmol/L as a criterion for mild autonomous cortisol secretion (MACS) is approximately 85% in patients with adrenal incidentalomas (AI). The aim was to study the associations of cortisolDST to age, BMI, and renal function.

Methods

We studied 1,129 patients with AI examined from 2005 to 2015 at Skåne University Hospital and Helsingborg Hospital. The covariates studied were gender, age, BMI, estimated glomerular filtration rate (eGFR), treatment with inhalation steroids, size of the AI, and size of the smallest AI in patients with bilateral AI (set to 0 in unilateral AI). We used machine learning models to uncover potential nonlinear associations. They were trained to fit the data and examined using feature importance analysis and partial dependence plots. Partial dependence plots show the marginal effect on cortisolDST of a covariate averaging over other covariates.

Results

CortisolDST was strongly associated with the size of the AI and weakly associated with age, BMI, and eGFR according to the feature importance analysis. The partial dependence plots indicated relatively linear relationships for cortisolDST to age (positively) and eGFR (negatively). The association between cortisolDST and BMI was nonlinear. At BMI below 30 kg/m2, cortisolDST was negatively associated with BMI, but it was unchanged at higher BMI levels. Using linear regression, we found that cortisolDST increased by 11% (95% CI, 7%–14%) for each 10-year increase in age. In patients with a BMI below 30 kg/m2, cortisolDST increased by 23% (95% CI, 16%–31%) for each 5 kg/m2 decrease in BMI. We found no association at BMI levels above 30 kg/m2. CortisolDST increased by 9% (95% CI, 6%–11%) for each 10 ml/min/1.73m2 decrease in eGFR.

Conclusions

CortisolDST is positively associated with age, negatively with BMI if below 30 kg/m2, and negatively with eGFR. These associations should be considered before diagnosing MACS.
Genome-wide characterization of mitochondrial DNA methylation in human brain
Authors: Devall Matthew , Soanes Darren M. , Smith Adam R. , Dempster Emma L. , Smith Rebecca G. , Burrage Joe , Iatrou Artemis , Hannon Eilis , Troakes Claire , Moore Karen , O’Neill Paul , Al-Sarraj Safa , Schalkwyk Leonard , Mill Jonathan , Weedon Michael , Lunnon Katie
Published: January 2023

Background

There is growing interest in the role of DNA methylation in regulating the transcription of mitochondrial genes, particularly in brain disorders characterized by mitochondrial dysfunction. Here, we present a novel approach to interrogate the mitochondrial DNA methylome at single base resolution using targeted bisulfite sequencing. We applied this method to investigate mitochondrial DNA methylation patterns in post-mortem superior temporal gyrus and cerebellum brain tissue from seven human donors.

Results

We show that mitochondrial DNA methylation patterns are relatively low but conserved, with peaks in DNA methylation at several sites, such as within the D-LOOP and the genes MT-ND2, MT-ATP6, MT-ND4, MT-ND5 and MT-ND6, predominantly in a non-CpG context. The elevated DNA methylation we observe in the D-LOOP we validate using pyrosequencing. We identify loci that show differential DNA methylation patterns associated with age, sex and brain region. Finally, we replicate previously reported differentially methylated regions between brain regions from a methylated DNA immunoprecipitation sequencing study.

Conclusions

We have annotated patterns of DNA methylation at single base resolution across the mitochondrial genome in human brain samples. Looking to the future this approach could be utilized to investigate the role of mitochondrial epigenetic mechanisms in disorders that display mitochondrial dysfunction.
Investigate the genetic mechanisms of diabetic kidney disease complicated with inflammatory bowel disease through data mining and bioinformatic analysis
Authors: Zhang Xiaoyu , Xiao Huijie , Fu Shaojie , Yu Jinyu , Cheng Yanli , Jiang Yang
Published: January 2023

Background

Patients with diabetic kidney disease (DKD) often have gastrointestinal dysfunction such as inflammatory bowel disease (IBD). This study aims to investigate the genetic mechanism leading to IBD in DKD patients through data mining and bioinformatics analysis.

Methods

The disease-related genes of DKD and IBD were searched from the five databases of OMIM, GeneCards, PharmGkb, TTD, and DrugBank, and the intersection part of the two diseases were taken to obtain the risk genes of DKD complicated with IBD. A protein–protein interaction (PPI) network analysis was performed on risk genes, and three topological parameters of degree, betweenness, and closeness of nodes in the network were used to identify key risk genes. Finally, Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis were performed on the risk genes to explore the related mechanism of DKD merging IBD.

Results

This study identified 495 risk genes for DKD complicated with IBD. After constructing a protein–protein interaction network and screening for three times, six key risk genes were obtained, including matrix metalloproteinase 2 (MMP2), hepatocyte growth factor (HGF), fibroblast growth factor 2 (FGF2), interleukin (IL)-18, IL-13, and C–C motif chemokine ligand 5 (CCL5). Based on GO enrichment analysis, we found that DKD genes complicated with IBD were associated with 3,646 biological processes such as inflammatory response regulation, 121 cellular components such as cytoplasmic vesicles, and 276 molecular functions such as G-protein-coupled receptor binding. Based on KEGG enrichment analysis, we found that the risk genes of DKD combined with IBD were associated with 181 pathways, such as the PI3K-Akt signaling pathway, advanced glycation end product–receptor for AGE (AGE-RAGE) signaling pathway and hypoxia-inducible factor (HIF)-1 signaling pathway.

Conclusion

There is a genetic mechanism for the complication of IBD in patients with CKD. Oxidative stress, chronic inflammatory response, and immune dysfunction were possible mechanisms for DKD complicated with IBD.
Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
Authors: Chen Congli , Sang Yanmei
Published: January 2023

Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes. Phosphomannomutase 2 hyperinsulinemia (PMM2-HI) is an extremely rare subtype which is first reported in 2017, with only 18 families reported so far. This review provides a structured description of the genetic pathogenesis, and current diagnostic and therapeutic advances of PMM2-HI to increase clinicians’ awareness of PMM2-HI.
Combined effect of diabetes and frailty on mortality among Chinese older adults: A follow-up study
Authors: Shi Jing , Tao Yongkang , Wang Lixiang , Chen Shuqiang , Zhou Ziyi , Meng Li , Zhou Baiyu , Duan Chunbo , Xi Huan , Yu Pulin
Published: January 2023

Background

Frailty and diabetes are two important health problems associated with aging in older individuals. This paper seeks to analyze the frailty in older adults suffering from diabetes and the combined effect of diabetes and frailty on mortality risk.

Methods

The frailty index (FI) model was employed when evaluating frailty among the older adults based on the baseline data conducted in 2009; and death as outcome variables collected in 2020 were analyzed. The influence of diabetes on age-related changes in frailty in the older adults and resulting mortality rates was analyzed. Cox regression and Kaplan-Meier curves were applied to evaluate the influence on the risk of death and the 11-year survival of the older adults with varying diabetes and frailty statuses.

Results

Ultimately, 1,213 older people aged between 60 and 101, with an average age of (74.79 ± 8.58) at baseline, were included in the analysis. By 2020, there had been 447 deaths with mortality at 36.9% (447/1,213); there were 271 cases of diabetes, with a prevalence of 22.3% (271/1,213). The mean FI value for older adults with diabetes was higher than that of those without regardless of age, and the average annual relative growth rate of the FI value for older adults with diabetes was higher than that of those without diabetes (β = 0.039 vs. β = 0.035, t = 8.367, P < 0.001). For all FI value levels, the mortality rate among older adults with diabetes was higher than that of those without. The Cox Regression analysis showed that, compared with those suffering from neither diabetes nor frailty, older adults with both had the higher mortality risk (HR = 1.760. P < 0.001), followed by older adults suffering from frailty alone (HR = 1.594, P = 0.006), and then by older adults suffering from only diabetes (HR = 1.475, P = 0.033). The survival analysis showed that the median survival of those suffering from diabetes and frailty to be the shortest at just 57.23 (95% CI: 54.05 to 60.41) months, lower than the 83.78 (95% CI: 79.33 to 88.23) months in those suffering from frailty alone, and 119.93 (95% CI: 113.84 to 126.02) months in those with only diabetes, and 124.39 (95% CI: 119.76 to 129.02) months in older adults with neither diabetes nor frailty (P < 0.001).

Conclusion

Frailty is common among older adults suffering from diabetes, and there is an increased risk of poor health outcomes, such as death, among older adults suffering from diabetes and frailty. When diagnosing, treating, and dealing with older adults with diabetes, attention should be paid to screening and assessing frailty in hopes of identifying it early so that appropriate measures of intervention can be taken to avoid or delay the resulting adverse effects.
Combined model of radiomics and clinical features for differentiating pneumonic-type mucinous adenocarcinoma from lobar pneumonia: An exploratory study
Authors: Ji Huijun , Liu Qianqian , Chen Yingxiu , Gu Mengyao , Chen Qi , Guo Shaolan , Ning Shangkun , Zhang Juntao , Li Wan-Hu
Published: January 2023

Purpose

The purpose of this study was to distinguish pneumonic-type mucinous adenocarcinoma (PTMA) from lobar pneumonia (LP) by pre-treatment CT radiological and clinical or radiological parameters.

Methods

A total of 199 patients (patients diagnosed with LP = 138, patients diagnosed with PTMA = 61) were retrospectively evaluated and assigned to either the training cohort (n = 140) or the validation cohort (n = 59). Radiomics features were extracted from chest CT plain images. Multivariate logistic regression analysis was conducted to develop a radiomics model and a nomogram model, and their clinical utility was assessed. The performance of the constructed models was assessed with the receiver operating characteristic (ROC) curve and the area under the curve (AUC). The clinical application value of the models was comprehensively evaluated using decision curve analysis (DCA).

Results

The radiomics signature, consisting of 14 selected radiomics features, showed excellent performance in distinguishing between PTMA and LP, with an AUC of 0.90 (95% CI, 0.83–0.96) in the training cohort and 0.88 (95% CI, 0.79–0.97) in the validation cohort. A nomogram model was developed based on the radiomics signature and clinical features. It had a powerful discriminative ability, with the highest AUC values of 0.94 (95% CI, 0.90–0.98) and 0.91 (95% CI, 0.84–0.99) in the training cohort and validation cohort, respectively, which were significantly superior to the clinical model alone. There were no significant differences in calibration curves from Hosmer–Lemeshow tests between training and validation cohorts (p = 0.183 and p = 0.218), which indicated the good performance of the nomogram model. DCA indicated that the nomogram model exhibited better performance than the clinical model.

Conclusions

The nomogram model based on radiomics signatures of CT images and clinical risk factors could help to differentiate PTMA from LP, which can provide appropriate therapy decision support for clinicians, especially in situations where differential diagnosis is difficult.
A deep reinforcement learning-based bidding strategy for participants in a peer-to-peer energy trading scenario
Authors: Zhang Feiye , Yang Qingyu , Li Donghe
Published: January 2023

An efficient energy trading strategy is proven to have a vital role in reducing participants’ payment in the energy trading process of the power grid, which can greatly improve the operation efficiency of the power grid and the willingness of participants to take part in the energy trading. Nevertheless, with the increasing number of participants taking part in the energy trading, the stability and efficiency of the energy trading system are exposed to an extreme challenge. To address this issue, an actor-critic-based bidding strategy for energy trading participants is proposed in this paper. Specifically, we model the bidding strategy with sequential decision-making characteristics as a Markov decision process, which treats three elements, namely, total supply, total demand, and participants’ individual supply or demand, as the state and regards bidding price and volume as the action. In order to address the problem that the existing value-based reinforcement learning bidding strategy cannot be applied to the continuous action space environment, we propose an actor–critic architecture, which endows the actor the ability of learning the action execution and utilizes the critic to evaluate the long-term rewards conditioned by the current state–action pairs. Simulation results in energy trading scenarios with different numbers of participants indicate that the proposed method will obtain a higher cumulative reward than the traditional greedy method.
The distribution, magnitude, and endemic species of US springs
Authors: Work Kirsten
Published: January 2023

Freshwater springs and other groundwater-dependent ecosystems represent important natural resources in landscapes, providing consistent, high-quality water to both freshwater and terrestrial organisms. However, spring and GDE conservation does not appear to be a prominent feature on the US conservation radar. Therefore, this study evaluated the distribution and size of springs in the US with the national water dataset: the US Geological Survey National Water Information System. Using all available measurements of spring discharge and the sampling dates for all springs with data in the dataset (10,279 springs), I compared the number and sizes of springs between states and, where time series were available, determined whether the springs were maintaining historic discharges. I evaluated data quality using the date of the last sampling, number of times sampled, and the length of time sampled for each spring. Finally, I searched the literature for spring endemic species and recorded the states in which they occurred. Within the database, springs were most abundant in western states, but average discharges were largest for states in the southeast and for Idaho and Alaska. Very large springs occurred in some western states, but the multitudes of tiny springs reduced the average discharges. The data were poorly resolved as many of the springs had been sampled only once, often 40–50 years ago. Time series were available only for 126 springs and half of these springs exhibited declines in discharge. Endemic species were mentioned in the literature for 24 states, particularly those in the lower half of the country, and so loss of spring integrity would threaten biodiversity in many states. Due to the poor resolution of the data, broad conclusions about the integrity of these important freshwater systems are difficult to impossible to make for most states using the national dataset. Therefore, I call for a concerted national effort to more broadly evaluate spring and GDE resources. Springs and GDEs are likely to become even more important in the future as climate changes and their roles as freshwater refuges, temperature buffers, and bellwethers become even more important.
RETRACTED: Health risks and respiratory intake of submicron particles in the working environment: A case study
Authors: Gao Xiangjing , Zou Hua , Chen Rui , Fang Huanghong , Cao Yiyao , Hu Yong , Luan Yuqing , Yuan Weiming , Quan Changjian , Zhou Zanrong , Lou Xiaoming , Zhou Xingfan
Published: January 2023

Background: Powder-coating processes have been extensively used in various industries. The submicron particles generated during the powder-coating process in the workplace have complex compositions and can cause serious diseases. The purpose of this study was to better understand the health risks and respiratory intake of submicron particles during the powder coating process.

Methods: The concentrations of and variations in submicron particles were measured using real-time instruments. The health risks of submicron particles were analyzed using the Stoffenmanager Nano model. A new computational fluid dynamics model was used to assess the respiratory intake of ultrafine particles (UFPs), which was indicated by the deposited dosage of UFPs in the olfactory area, nasal cavity, and lungs. The deposited doses of UFPs were used to calculate the average daily doses (ADDs) of workers, according to the method described by the Environmental Protection Agency.

Results: The number concentration (NC), mass concentration, surface area concentration, personal NC, and lung-deposited surface area concentration of submicron particles were >105 pt/cm3, 0.2–0.4 mg/m3, 600–1,200 μm2/cm3, 0.7–1.4 pt/cm3, and 100–700 μm2/cm3, respectively. The size distribution showed that the submicron particles mainly gathered between 30 and 200 nm. The health risk of submicron particles was high. Upon respiratory intake, most UFPs (111.5 mg) were inhaled into the lungs, a few UFPs (0.272 mg) were trapped in the nasal cavity, and a small minority of UFPs (0.292 mg) were deposited in the olfactory area. The ADD of male workers with 10 years of exposure in the olfactory area, nasal cavity, and lung were 1.192 × 10–3 mg/kg·d−1, 1.11 × 10–3 mg/kg·d−1, and 0.455 mg/kg·d−1, respectively.

Conclusion: Owing to the high concentrations of submicron particles, the workers involved in the powder-coating process are at a high health risk. Moreover, the respiratory intake of UFPs by workers is high, which is suggested by the highly deposited dosage of UFPs in the lungs and the corresponding high ADD in workers. Control measures, including engineering control, management control, and personal protective equipment, must be improved for the protection of workers.
Knowledge domain of greenhouse gas emissions from hydropower reservoirs: Hotspots, frontiers and future perspectives
Authors: Ai Yadi , Huang Tao , Duan Cuncun , Huang Di , Gong Yiwei , Cheng Hongguang
Published: January 2023

Research on greenhouse gas (GHG; CO2, CH4, N2O) emissions from hydropower reservoirs has attracted widespread attention due to the potential effect on global climate change. However, few attempts have been made to conduct the research progress in this field from a global perspective. In this study, knowledge mapping research was conducted by applying scientometric analysis to explore research hotspots, frontiers and emerging trends of this field from 1993 to 2021, and five research priorities were recommended for the further study. The results showed that the research on GHG emissions from hydropower reservoirs was interdisciplinary, and there was an exponential increase in yearly publication outputs. Additionally, China, Brazil, Canada, America, and France were the leading contributors with high publication outputs, and the Chinese Academy of Science was the most productive and influential institution. Furthermore, the research hotspots in the field mainly focused on CO2, CH4, and N2O emissions and their spatiotemporal characteristics due to great contributions to greenhouse effect and heterogeneities of the GHG emissions from hydropower reservoirs. Research frontiers mainly concentrated on the Three Gorges Reservoir, bubble-mediated gas exchange, GHG emissions across different interfaces and gas transfer velocity. Meanwhile, the first three research frontiers were regarded as emerging trends in recent years. Although great progress has been made in the field, there were still some research challenges. Future research priorities were recommended to strengthen: 1) Application of remote sensing in the research on GHG emissions from hydropower reservoirs, 2) improvement of life cycle assessment research, 3) standardization research on the measurement methods, 4) anthropogenic impacts on carbon dynamics, and 5) international cooperation and database construction. Finally, several mitigation measures were suggested to provide useful insights into the management and control of GHG emissions. In contrast to previous reviews, this paper provides an insight for the visual study of the research on GHG emissions from hydropower reservoirs, helping researchers understand the current research status and future perspectives from a global perspective.
Spatiotemporal distribution and prediction of chlorophyll-a in Ulansuhai lake from an arid area of China
Authors: Liu Xuhua , Liu Huamin , Chen Han , Liu Yang , Xu Zhichao , Cao Xiaoai , Ma Linqian , Pan Baozhu , Wang Lixin
Published: January 2023

Lake Ulansuhai, a typical shallow lake in an arid area that is economically and ecologically important along the Yellow River, is currently eutrophic. Long-term (2010–2020) data on chlorophyll-a, nutrient, and environmental factors were obtained from three Lake Ulansuhai monitoring stations. The temporal and spatial distribution characteristics of Chl-a were analyzed. Additionally, a hybrid evolutionary algorithm was established to simulate and predict Chl-a, and sensitivity analysis revealed the interaction between environmental factors and eutrophication. The results indicated that (1) the seasonal variation of eutrophication showed an obvious trend of spring > summer > autumn > winter, and the concentration of Chl-a in the inlet was significantly higher than that in the outlet; (2) The inlet, center, and outlet of Ulansuhai Lake are satisfactorily affected by HEA in the best suited method. The fitting coefficients (R2) of the optimal models were 0.58, 0.59, and 0.62 for the three monitoring stations, and the root mean square errors (RMSE) were 3.89, 3.21, and 3.56, respectively; (3) under certain range and threshold conditions, Chl-a increased with the increase of permanganate index, water temperature, dissolved oxygen concentration, and ammonia nitrogen concentration, but decreased with the increase of water depth, Secchi disk depth, pH, and fluoride concentration. The results indicate that the HEA can simulate and predict the dynamics of Chl-a, and identify and quantify the relationships between eutrophication and the threshold data. The research results provide theoretical basis and technical support for the prediction and have great significance for the improvement of water quality and environmental protection in arid and semi-arid inland lakes.