Pseudo-CT synthesis in adaptive radiotherapy based on a stacked coarse-to-fine model: Combing diffusion process and spatial-frequency convolutions.

BACKGROUND: Cone beam computed tomography (CBCT) provides critical anatomical information for adaptive radiotherapy (ART), especially for tumors in the pelvic region that undergo significant deformation. However, CBCT suffers from inaccurate Hounsfield Unit (HU) values and lower soft tissue contrast. These issues affect the accuracy of pelvic treatment plans and implementation of the treatment, hence requiring correction. PURPOSE: A novel stacked coarse-to-fine model combining Denoising Diffusion Probabilistic Model (DDPM) and spatial-frequency domain convolution modules is proposed to enhance the imaging quality of CBCT images. METHODS: The enhancement of low-quality CBCT images is divided into two stages. In the coarse stage, the improved DDPM with U-ConvNeXt architecture is used to complete the denoising task of CBCT images. In the fine stage, the deep convolutional network model jointly constructed by fast Fourier and dilated convolution modules is used to further enhance the image quality in local details and global imaging. Finally, the accurate pseudo-CT (pCT) images consistent with the size of the original data are obtained. Two hundred fifty paired CBCT-CT images from cervical and rectal cancer, combined with 200 public dataset cases, were used collectively for training, validation, and testing. RESULTS: To evaluate the anatomical consistency between pCT and real CT, we have used the mean(std) of structure similarity index measure (SSIM), peak signal to noise ratio (PSNR), and normalized cross-correlation (NCC). The numerical results for the above three metrics comparing the pCT synthesized by the proposed model against real CT for cervical cancer cases were 87.14% (2.91%), 34.02 dB (1.35 dB), and 88.01% (1.82%), respectively. For rectal cancer cases, the corresponding results were 86.06% (2.70%), 33.50 dB (1.41 dB), and 87.44% (1.95%). The paired t-test analysis between the proposed model and the comparative models (ResUnet, CycleGAN, DDPM, and DDIM) for these metrics revealed statistically significant differences (p < 0.05). The visual results also showed that the anatomical structures between the real CT and the pCT synthesized by the proposed model were closer. For the dosimetric verification, mean absolute error of dosimetry (MAEdoes) values for the maximum dose (Dmax), the minimum dose (Dmin), and the mean dose (Dmean) in the planning target volume (PTV) were analyzed, with results presented as mean (lower quartile, upper quartile). The experimental results show that the values of the above three dosimetry indexes (Dmin, Dmax, and Dmean) for the pCT images synthesized by the proposed model were 0.90% (0.48%, 1.29%), 0.82% (0.47%, 1.17%), and 0.57% (0.44%, 0.67%). Compared with 10 cases of the original CBCT image by Mann-Whitney test (p < 0.05), it also proved that pCT can significantly improve the accuracy of HU values for the dose calculation. CONCLUSION: The pCT synthesized by the proposed model outperforms the comparative models in numerical accuracy and visualization, promising for ART of pelvic cancers.

Unraveling the Potential Dependence of Active Structures and Reaction Mechanism of Ni-based MOFs Electrocatalysts for Alkaline OER.

Nickel-based metal-organic frameworks (MOFs) with flexible structure units provide a broad platform for designing highly efficient electrocatalysts, especially for alkaline oxygen evolution reaction (OER). However, the stability of MOFs under harsh and dynamic reaction conditions poses significant challenges, resulting in ambiguous structure-activity relationships in MOFs-based OER research. Herein, Ni-benzenedicarboxylic acid-based MOF (NiBDC) is selected as prototypical catalyst to elucidate  its real active sites for OER and reaction pathway under different reaction states. Electrochemical measurements combined with X-ray absorption spectroscopy (XAS) and Raman spectroscopy reveal that the complete reconstruction of NiBDC to ß-NiOOH in the chronoamperometry activation process is responsible for significantly increased OER performance. In situ XAS and Raman results further demonstrate the electro-oxidation of ß-NiOOH into γ-NiOOH at high-potential state (above 1.6 V vs RHE). Furthermore, the collective evidences from key reaction intermediates and isotope-labeled products definitely unravel the potential dependence of OER mechanism: OER process at low-potential state proceeds mainly through the lattice oxygen-mediated mechanism, while adsorbate evolution mechanism emerges as the predominant pathway at high-potential state. Interestingly, the dynamically changing OER mechanism can not only reduce the required overpotential at the low-potential state but also improve the electrochemical stability of catalysts at high-potential state.

Non-contrasted computed tomography (NCCT) based chronic thromboembolic pulmonary hypertension (CTEPH) automatic diagnosis using cascaded network with multiple instance learning.

Objective.The diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH) is challenging due to nonspecific early symptoms, complex diagnostic processes, and small lesion sizes. This study aims to develop an automatic diagnosis method for CTEPH using non-contrasted computed tomography (NCCT) scans, enabling automated diagnosis without precise lesion annotation.Approach.A novel cascade network (CN) with multiple instance learning (CNMIL) framework was developed to improve the diagnosis of CTEPH. This method uses a CN architecture combining two Resnet-18 CNN networks to progressively distinguish between normal and CTEPH cases. Multiple instance learning (MIL) is employed to treat each 3D CT case as a 'bag' of image slices, using attention scoring to identify the most important slices. An attention module helps the model focus on diagnostically relevant regions within each slice. The dataset comprised NCCT scans from 300 subjects, including 117 males and 183 females, with an average age of 52.5 ± 20.9 years, consisting of 132 normal cases and 168 cases of lung diseases, including 88 cases of CTEPH. The CNMIL framework was evaluated using sensitivity, specificity, and the area under the curve (AUC) metrics, and compared with common 3D supervised classification networks and existing CTEPH automatic diagnosis networks.Main results. The CNMIL framework demonstrated high diagnostic performance, achieving an AUC of 0.807, accuracy of 0.833, sensitivity of 0.795, and specificity of 0.849 in distinguishing CTEPH cases. Ablation studies revealed that integrating MIL and the CN significantly enhanced performance, with the model achieving an AUC of 0.978 and perfect sensitivity (1.000) in normal classification. Comparisons with other 3D network architectures confirmed that the integrated model outperformed others, achieving the highest AUC of 0.8419.Significance. The CNMIL network requires no additional scans or annotations, relying solely on NCCT. This approach can improve timely and accurate CTEPH detection, resulting in better patient outcomes.

Deciphering the Dynamic Assembling-Disassembling of Small Molecules on Solid/Liquid Interfaces within Microchannels by Pulsed Streaming Potential Measurement.

Assembling small molecules at liquid/solid interfaces is relatively common and contributes to many unique properties of the interface. However, such an assembling process can be dynamic depending on the concentration of the molecule and the properties of the solid and liquid themselves, which poses serious challenges on the accurate evaluation of the assembling processes. Herein, we report a convenient way for in situ and real-time monitoring of assembling-disassembling of small-molecule surfactants on the surface of microchannels using pulsed streaming potential (SP) measurement based on the variation of surface charge. With this technique, five distinctive kinetic regimes, each responsible for a characteristic molecular behavior, can be differentiated during a typical assembling-disassembling cycle. Significant difference of the assembling-disassembling process was clearly reflected for surfactants with hydrophobic tails of only a two -CH2- difference (C16TAB/C18TAB and D10DAB/D12DAB). The relative SP (Er) value is positively correlated with the molecular weight at a concentration of 0.1 mM for the same kinds of surfactants. Moreover, the assembling kinetics of D10DAB exhibits an "overshoot effect" at high concentration, which means morphology adjustment. The consequences of such assembling/disassembling of these molecules for electrophoretic separation, protein immobilization, and photocatalysis in a microchannel were investigated through dynamic characterization, which proves its potential as a tool for dynamic solid/liquid interface characterization.

Sulfur-Tuned Main-Group Sb-N-C Catalysts for Selective 2-Electron and 4-Electron Oxygen Reduction.

The selective oxygen reduction reaction (ORR) is important for various energy conversion processes such as the fuel cells and metal-air batteries for the 4e- pathway and hydrogen peroxide (H2O2) electrosynthesis for the 2e- pathway. However, it remains a challenge to tune the ORR selectivity of a catalyst in a controllable manner. Herein, an efficient strategy for introducing sulfur dopants to regulate the ORR selectivity of main-group Sb-N-C single-atom catalysts  is reported. Significantly, Sb-N-C with the highest sulfur content follows a 2e- pathway with high H2O2 selectivity (96.8%) and remarkable mass activity (96.1 A g-1 at 0.65 V), while the sister catalyst with the lowest sulfur content directs a 4e- pathway with a half-wave potential (E1/2 = 0.89 V) that is more positive than commercial Pt/C. In addition, practical applications for these two 2e-/4e- ORR catalysts are demonstrated by bulk H2O2 electrosynthesis for the degradation of organic pollutants and a high-power zinc-air battery, respectively. Combined experimental and theoretical studies reveal that the excellent selectivity for the sulfurized Sb-N-Cs is attributed to the optimal adsorption-desorption of the ORR intermediates realized through the electronic structure modulation by the sulfur dopants.

Neutrophil extracellular traps induce pyroptosis of pulmonary microvascular endothelial cells by activating the NLRP3 inflammasome.

Excessive formation of neutrophil extracellular traps (NETs) may lead to myositis-related interstitial lung disease (ILD). There is evidence that NETs can directly injure vascular endothelial cells and play a pathogenic role in the inflammatory exudation of ILD. However, the specific mechanism is unclear. This study aimed to investigate the specific mechanism underlying NET-induced injury to human pulmonary microvascular endothelial cells (HPMECs). HPMECs were stimulated with NETs (200 ng/ml) in vitro. Cell death was detected by propidium iodide staining. The morphological changes of the cells were observed by transmission electron microscopy (TEM). Pyroptosis markers were detected by western blot, immunofluorescence, and quantitative real-time polymerase chain reaction, and the related inflammatory factor Interleukin-1ß (IL-1ß) was verified by enzyme-linked immunosorbent assay (ELISA). Compared with the control group, HPMECs mortality increased after NET stimulation, and the number of pyroptosis vacuoles in HPMECs was further observed by TEM. The pulmonary microvascular endothelial cells (PMECs) of the experimental autoimmune myositis mouse model also showed a trend of pyroptosis in vivo. Cell experiment further confirmed the significantly high expression of the NLRP3 inflammasome and pyroptosis-related markers, including GSDMD and inflammatory factor IL-1ß. Pretreated with the NLRP3 inhibitor MCC950, the activation of NLRP3 inflammasome and pyroptosis of HPMECs were effectively inhibited. Our study confirmed that NETs promote pulmonary microvascular endothelial pyroptosis by activating the NLRP3 inflammasome, suggesting that NETs-induced pyroptosis of PMECs may be a potential pathogenic mechanism of inflammatory exudation in ILD.

Engineering Yarrowia lipolytica as a Cellulolytic Cell Factory for Production of p-Coumaric Acid from Cellulose and Hemicellulose.

De novo biosynthesis of high-value added food additive p-coumaric acid (p-CA) direct from cellulose/hemicellulose is a more sustainable route compared to the chemical route, considering the abundant cellulose/hemicellulose resources. In this study, a novel factory was constructed for the production of p-CA in Yarrowia lipolytica using cellulose/hemicellulose as the sole carbon source. Based on multicopy integration of the TAL gene and reprogramming the shikimic acid pathway, the engineered strain produced 1035.5 ± 67.8 mg/L p-CA using glucose as a carbon source. The strains with overexpression of cellulases and hemicellulases produced 84.3 ± 2.4 and 65.3 ± 4.6 mg/L p-CA, using cellulose (carboxymethyl-cellulose) or hemicellulose (xylan from bagasse) as the carbon source, respectively. This research demonstrated the feasibility of conversion of cost-effective cellulose/hemicellulose into a value-added product and provided a sustainable cellulolytic cell factory for the utilization of cellulose/hemicellulose.

Pseudo-medical image-guided technology based on 'CBCT-only' mode in esophageal cancer radiotherapy.

Purpose To minimize the various errors introduced by image-guided radiotherapy (IGRT) in the application of esophageal cancer treatment, this study proposes a novel technique based on the 'CBCT-only' mode of pseudo-medical image guidance. Methods The framework of this technology consists of two pseudo-medical image synthesis models in the CBCT→CT and the CT→PET direction. The former utilizes a dual-domain parallel deep learning model called AWM-PNet, which incorporates attention waning mechanisms. This model effectively suppresses artifacts in CBCT images in both the sinogram and spatial domains while efficiently capturing important image features and contextual information. The latter leverages tumor location and shape information provided by clinical experts. It introduces a PRAM-GAN model based on a prior region aware mechanism to establish a non-linear mapping relationship between CT and PET image domains.  As a result, it enables the generation of pseudo-PET images that meet the clinical requirements for radiotherapy. Results The NRMSE and multi-scale SSIM (MS-SSIM) were utilized to evaluate the test set, and the results were presented as median values with lower quartile and upper quartile ranges. For the AWM-PNet model, the NRMSE and MS-SSIM values were 0.0218 (0.0143, 0.0255) and 0.9325 (0.9141, 0.9410), respectively. The PRAM-GAN model produced NRMSE and MS-SSIM values of 0.0404 (0.0356, 0.0476) and 0.9154 (0.8971, 0.9294), respectively. Statistical analysis revealed significant differences (p < 0.05) between these models and others. The numerical results of dose metrics, including D98 %, Dmean, and D2 %, validated the accuracy of HU values in the pseudo-CT images synthesized by the AWM-PNet. Furthermore, the Dice coefficient results confirmed statistically significant differences (p < 0.05) in GTV delineation between the pseudo-PET images synthesized using the PRAM-GAN model and other compared methods. Conclusion The AWM-PNet and PRAM-GAN models have the capability to generate accurate pseudo-CT and pseudo-PET images, respectively. The pseudo-image-guided technique based on the 'CBCT-only' mode shows promising prospects for application in esophageal cancer radiotherapy.

Neutrophil extracellular traps are involved in the occurrence of interstitial lung disease in a murine experimental autoimmune myositis model.

The excessive formation of neutrophil extracellular traps (NETs) has been demonstrated to be a pathogenic mechanism of idiopathic inflammatory myopathy (IIM)-associated interstitial lung disease (ILD). This study aimed to answer whether an experimental autoimmune myositis (EAM) model can be used to study IIM-ILD and whether NETs participate in the development of EAM-ILD. An EAM mouse model was established using skeletal muscle homogenate and pertussis toxin (PTX). The relationship between NETs and the ILD phenotype was determined via histopathological analysis. As NETs markers, serum cell-free DNA (cfDNA) and serum citrullinated histone 3 (Cit-H3)-DNA were tested. The healthy mouse was injected with PTX intraperitoneally to determine whether PTX intervention could induce NETs formation in vivo. Neutrophils isolated from the peripheral blood of healthy individuals were given different interventions to determine whether PTX and skeletal muscle homogenate can induce neutrophils to form NETs in vitro. EAM-ILD had three pathological phenotypes similar to IIM-ILD. Cit-H3, neutrophil myeloperoxidase, and neutrophil elastase were overexpressed in the lungs of EAM model mice. The serum cfDNA level and Cit-H3-DNA complex level were significantly increased in EAM model mice. Serum cfDNA levels were increased significantly in vivo intervention with PTX in mice. Both PTX and skeletal muscle homogenate-induced neutrophils to form NETs in vitro. EAM-ILD pathological phenotypes are similar to IIM-ILD, and NETs are involved in the development of ILD in a murine model of EAM. Thus, the EAM mouse model can be used as an ideal model targeting NETs to prevent and treat IIM-ILD.

CBCT-to-CT Synthesis for Cervical Cancer Adaptive Radiotherapy via U-Net-Based Model Hierarchically Trained with Hybrid Dataset.

PURPOSE: To develop a deep learning framework based on a hybrid dataset to enhance the quality of CBCT images and obtain accurate HU values. MATERIALS AND METHODS: A total of 228 cervical cancer patients treated in different LINACs were enrolled. We developed an encoder-decoder architecture with residual learning and skip connections. The model was hierarchically trained and validated on 5279 paired CBCT/planning CT images and tested on 1302 paired images. The mean absolute error (MAE), peak signal to noise ratio (PSNR), and structural similarity index (SSIM) were utilized to access the quality of the synthetic CT images generated by our model. RESULTS: The MAE between synthetic CT images generated by our model and planning CT was 10.93 HU, compared to 50.02 HU for the CBCT images. The PSNR increased from 27.79 dB to 33.91 dB, and the SSIM increased from 0.76 to 0.90. Compared with synthetic CT images generated by the convolution neural networks with residual blocks, our model had superior performance both in qualitative and quantitative aspects. CONCLUSIONS: Our model could synthesize CT images with enhanced image quality and accurate HU values. The synthetic CT images preserved the edges of tissues well, which is important for downstream tasks in adaptive radiotherapy.

A bioinspired synthetic fused protein adhesive from barnacle cement and spider dragline for potential biomedical materials.

Biomaterials with excellent biocompatibility, mechanical performance, and self-recovery properties are urgently needed for tissue regeneration. Inspired by barnacle cement and spider silk, we genetically designed and overexpressed a fused protein (cp19k-MaSp1) composed of Megabalanus rosa (cp19k) and Nephila clavata dragline silk protein (MaSp1) in Pichia pastoris. The recombinant cp19k-MaSp1 exhibited enhanced adhesion capability beyond those of the individual proteins in both aqueous and non-aqueous conditions. cp19k-MaSp1 protein fiber scaffolds prepared through electrospinning have adequate hydrophilicity compared to cp19k and MaSp1 protein fiber scaffolds, and offer improved overall porosity compared to MaSp1 protein fiber scaffolds. The cp19k-MaSp1 protein fiber scaffolds showed excellent proteolytically stable properties because of only 9.6 % depletion after incubation in a biodegradation solution for 56 d. The cp19k-MaSp1 protein fiber scaffolds present remarkably high extreme tensile strength (112.7 ± 11.6 MPa) and superior ductility (438.4 ± 43.9 %) compared with cp19k (34.4 ± 8.1 MPa, 115.4 ± 32.7 %) and MaSp1 protein fiber scaffolds (65.8 ± 9.3 MPa, 409.6 ± 23.1 %), also 68.4 % of tensile strength was recovered by incubation in K+ buffer after multiple stretches, which create a favorable cell adhesion, growth, and proliferation environment for human umbilical vein endothelial cells (HUVECs). The improved biocompatibility, extensive adhesion, mechanical strength, and self-recovery properties make the bioinspired synthetic cp19k-MaSp1 a potential candidate for biomedical tissue reconstruction.

Case report: Miliary tuberculosis complicated by pediatric acute respiratory distress syndrome in a 12-year-old girl.

Acute respiratory distress syndrome (ARDS) is a rare complication of miliary tuberculosis, particularly in pediatric patients. Comorbidities and delayed diagnosis can worsen the prognosis of patients with miliary tuberculosis. A 12-year-old girl presented with fever for 20 days, and cough and tachypnea for 4 days. She was diagnosed with miliary tuberculosis complicated by pediatric ARDS. She had atypical clinical manifestations and imaging findings, a negative contact history, and negative results of a tuberculin skin test (TST) and T-SPOT.TB. Diagnostic bronchoscopy and bronchoalveolar lavage helped make the diagnosis of tuberculosis. Effective treatment was promptly initiated after confirmation of the diagnosis, and the patient's condition improved. This case illustrates that a negative contact history and laboratory results cannot rule out tuberculosis. False-negative TST and T-SPOT.TB results should be evaluated carefully. Bronchoscopy may be useful for identifying pathogens in patients with pneumonia of unknown etiology, and corticosteroids should be administered with caution.

Visible light irradiated photocatalytic C(sp3)-H phosphorylation of xanthenes and 9,10-dihydroacridines with P(O)-H compounds.

Photocatalytic C(sp3)-H phosphorylation of xanthenes and 9,10-dihydroacridines with P(O)-H compounds under the irradiation of 18 W blue LEDs at room temperature using fluorescein as the photocatalyst and molecular oxygen (O2) as the sole oxidant has been achieved. The newly developed reaction provides direct access to 9-phosphorylated xanthene derivatives with good functional group compatibility.

The role of neutrophil extracellular traps and proinflammatory damage-associated molecular patterns in idiopathic inflammatory myopathies.

Idiopathic inflammatory myopathies (IIMs) are a group of systemic autoimmune diseases characterized by immune-mediated muscle injury. Abnormal neutrophil extracellular traps (NETs) can be used as a biomarker of IIM disease activity, but the mechanism of NET involvement in IIMs needs to be elucidated. Important components of NETs, including high-mobility group box 1, DNA, histones, extracellular matrix, serum amyloid A, and S100A8/A9, act as damage-associated molecular patterns (DAMPs) to promote inflammation in IIMs. NETs can act on different cells to release large amounts of cytokines and activate the inflammasome, which can subsequently aggravate the inflammatory response. Based on the idea that NETs may be proinflammatory DAMPs of IIMs, we describe the role of NETs, DAMPs, and their interaction in the pathogenesis of IIMs and discuss the possible targeted treatment strategies in IIMs.

Mechanisms and applications of ferroptosis-associated regulators in cancer therapy and drug resistance.

Iron is an essential element for almost all living things. Both iron excess and iron deficiency can damage the body's health, but the body has developed complex mechanisms to regulate iron balance. The imbalance of iron homeostasis and lipid peroxidation are important features of ferroptosis. In this review, we summarize the latest regulatory mechanisms of ferroptosis, the roles of relevant regulators that target ferroptosis for cancer therapy, and their relationship to drug resistance. In conclusion, targeting ferroptosis is an important strategy for cancer therapy.

Coronary CT angiography and serum biomarkers are potential biomarkers for predicting MACE at three-months and one-year follow-up.

AIMS: To assess the prognostic value of coronary computed tomography angiography (CTA) and serum biomarkers for the prediction of major adverse cardiac events (MACE) at three-month and one-year follow-ups. METHODS AND RESULTS: A total of 720 patients with acute chest pain and normal electrocardiography (ECG) were included in the prospective cohort study. These patients received both coronary CTA screening and serum biomarkers testing, followed by three-month and one-year follow-ups for the occurrence of major adverse cardiac events (MACE). The primary outcome was the occurrence of MACE, which is defined as acute coronary syndrome (ACS), nonfatal MI, and all-cause mortality. The MACE rate was 17.8% (128 cases) and 25.2% (182 cases) at three-months and one-year follow-up. ApoB/apoA1(OR = 7.45, P < 0.001) and the number of atherosclerotic vessels (OR = 2.86, P < 0.001) were independent predictors for MACE at the three-month follow-up, so were apoB/apoA1 (OR = 5.23, P = 0.003), Serum amyloid protein A (SAA, OR = 1.04, P < 0.001) and the number of atherosclerotic vessels (OR = 2.54, P < 0.001) at the one-year follow-up. While apoB/apoA1 suggested its sensitivities of 84% for predicting MACE at three-month follow-ups, the number of atherosclerotic vessels had 81% specificity at one-year follow-up. CONCLUSIONS: Among patients with acute chest pain and normal ECG, apoB/apoA1, SAA and the number of atherosclerotic vessels are the most powerful predictors of MACE at three-month and one-year follow-ups.

Thermal Conductance of Copper-Graphene Interface: A Molecular Simulation.

Copper is often used as a heat-dissipating material due to its high thermal conductivity. In order to improve its heat dissipation performance, one of the feasible methods is to compound copper with appropriate reinforcing phases. With excellent thermal properties, graphene has become an ideal reinforcing phase and displays great application prospects in metal matrix composites. However, systematic theoretical research is lacking on the thermal conductivity of the copper-graphene interface and associated affecting factors. Molecular dynamics simulation was used to simulate the interfacial thermal conductivity of copper/graphene composites, and the effects of graphene layer number, atomic structure, matrix length, and graphene vacancy rate on thermal boundary conductance (TBC) were investigated. The results show that TBC decreases with an increase in graphene layers and converges when the number of graphene layers is above five. The atomic structure of the copper matrix affects the TBC, which achieves the highest value with the (011) plane at the interface. The length of the copper matrix has little effect on the TBC. As the vacancy rate is between 0 and 4%, TBC increases with the vacancy rate. Our results present insights for future thermal management optimization based on copper matrix composites.

Genome-wide identification and characterization of the C2 domain family in Sorghum bicolor (L.) and expression profiles in response to saline-alkali stress.

The C2 domain family proteins in plants has been recently shown to be involved in the response to abiotic stress such as salt and drought stress. However, less information on C2 domain family members has been reported in Sorghum bicolor (L.), which is a tolerant cereal crop. To elaborate the mechanism of C2 domain family members in response to abiotic stress, bioinformatic methods were used to analyze this family. The results indicated that 69 C2 domain genes belonging to 5 different groups were first identified within the sorghum genome, and each group possessed various gene structures and conserved functional domains. Second, those C2 family genes were localized on 10 chromosomes 3 tandem repeat genes and 1 pair of repeat gene fragments were detected. The family members further presented a variety of stress responsive cis-elements. Third, in addition to being the major integral component of the membrane, sorghum C2 domain family proteins mainly played roles in response to abiotic and biotic stress with their organic transport and catalytic activity by specific location in the cell on the basis of gene ontology analysis. C2 family genes were differentially expressed in root, shoot or leaf, and shown different expression profiling after saline-alkali stress, which indicated that C2 family members played an important role in response to saline-alkali stress based on the transcription profiles of RNA-seq data and expression analysis by quantitative real-time polymerase chain reaction. Besides, most C2 family members were mainly located in cytoplasmi and nucleus. Weighted gene co-expression network analysis revealed three modules (turquoise, dark magenta and pink) that were associated with stress resistance, respectively. Therefore, the present research provides comprehensive information for further analysis of the molecular function of C2 domain family genes in sorghum. Supplementary Information: The online version contains supplementary material available at 10.1007/s12298-022-01222-3.

Correction to: Genome-wide identifcation and characterization of the C2 domain family in Sorghum bicolor (L.) and expression profles in response to saline-alkali stress.

[This corrects the article DOI: 10.1007/s12298-022-01222-3.].

A Chinese boy with familial Duchenne muscular dystrophy owing to a novel hemizygous nonsense mutation (c.6283C>T) in an exon of the DMD gene.

Duchenne muscular dystrophy is a severe, X-linked, progressive neuromuscular disorder clinically characterised by muscle weakening and extremely high serum creatine kinase levels. A 1-year-old Chinese patient was diagnosed with early-onset Duchenne muscular dystrophy. Next-generation gene sequencing was conducted and the Sanger method was used to validate sequencing. We identified a novel nonsense mutation (c.6283C>T) in DMD that caused the replacement of native arginine at codon 2095 with a premature termination codon (p.R2095X), which may have had a pathogenic effect against dystrophin in our patient's muscle cell membranes. We discovered a novel nonsense mutation in DMD that will expand the pathogenic mutation spectrum for Duchenne muscular dystrophy.