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PURPOSEWe aimed to differentiate tuberculous peritonitis (TBP) from peritoneal carcinomatosis (PC) using a visual positron-emission tomography/computed tomography (PET/CT) scoring system based on mesenteric fluorodeoxyglucose (FDG) uptake.METHODSPET/CT scans from 31 patients with TBP and 92 patients with PC were retrospectively reviewed. A visual PET/CT scoring system for mesenteric FDG uptake was used according to the following characteristics: FDG uptake intensity (low = 0, moderate = 1, high = 2), FDG uptake deposits (uniform = 0, irregular = 1, ascitic = 2), FDG uptake focality (diffuse = 0, segmental = 1, focal = 2), nodularity on the corresponding CT (nonnodular = 0, micronodular = 1, macronodular = 2) and mesenteric lymphadenopathy (absent = 0, lymphadenopathy without FDG uptake = 1, lymphadenopathy with FDG uptake = 2). The FDG uptake intensity, deposits, focality, nodularity and mesenteric lymphadenopathy scores between TBP and PC were compared using chi-square tests. The diagnostic performance of this scoring system for differentiating TBP from PC was analyzed using a receiver operating characteristic (ROC) curve. P < 0.05 was considered statistically significant.RESULTSTwenty-four patients with TBP (77.4%) and 56 patients with PC (60.9%) had mesenteric FDG uptake (P = 0.095) and were included for evaluation with the visual PET/CT scoring system. PC lesions scored higher than TBP lesions in FDG uptake deposits (P < 0.001), focality (P < 0.001) and nodularity (P < 0.001). No significant differences were observed between PC and TBP lesions in FDG uptake intensity (P = 0.396) and lymphadenopathy (P = 0.074). The total score that combined deposits, focality and nodularity had significant value for differentiating TBP from PC (area under the curve (AUC) = 0.869, P < 0.001), and a cutoff > 1 had a sensitivity (the accuracy for diagnosis of PC) of 80.4% and a specificity (the accuracy for diagnosis of TBP) of 75.0%.CONCLUSIONA visual PET/CT scoring system based on mesenteric FDG uptake performed well in differentiating between TBP and PC.

The backfill construction of a utility tunnel is as important as its main structure construction. While the existing research on utility tunnels focuses on the construction of the main structure, rare attention has been paid to the backfill construction. In this paper, with a practical comprehensive utility tunnel project as the background, a variety of different backfill construction schemes were designed, and the corresponding numerical simulations were performed with the finite element analysis software Midas. The influence of different backfill construction schemes on the side wall, roof, and floor of the utility tunnel was systematically studied and analyzed, and the displacement and stress variation curves in the process of utility tunnel backfill were obtained. Based on the simulation results and the actual engineering situation, the optimal schemes for utility tunnel backfill construction were determined. The results show that the displacement of the side wall of the utility tunnel increased first and then decreased with increasing backfill soil in the unilateral backfill mode, and there was little displacement in the bilateral backfill mode. The shear stress of the side wall of the utility tunnel in both the unilateral and bilateral backfill modes gradually increased with the backfill process. Within the region 1 m above the roof of the utility tunnel, backfill modes had no effect on the final stress and displacement values, but the layering method made a difference. Accordingly, bilateral backfill mode is suggested for the region below the roof of the utility tunnel, while in the case of region 1 m above the roof, backfilling is recommended to be layered according to height rather than position.

This study explores the water consumption and greenhouse gas (GHG) emissions in the Yarkand River Basin, focusing on their dynamic interactions across industrial sectors. Utilizing environmental input–output analysis (IOA), the CROPWAT model, and life cycle assessment (LCA), we quantified the historical evolution of physical and virtual water cycles in relation to the water–carbon nexus. Our findings reveal that the planting industry, particularly the production of export-oriented, water-intensive crops like cotton, significantly contributes to both blue and green water consumption, exacerbating regional water scarcity. The persistent external market demand drives this over-extraction, further strained by the basin's limited water retention capabilities. Although advancements have been made in reducing the per-unit water footprint of crops, total water consumption continues to rise due to agricultural expansion, intensifying pressure on blue water resources. Additionally, agricultural GHG emissions have surged, driven by increased electricity consumption, heavy fertilizer use, and escalating soil N2O emissions. In light of these challenges, our research underscores the critical need for integrated resource management strategies that align with sustainable development goals. By promoting efficient water allocation within the agricultural sector and diversifying crop structures downstream, we can enhance ecosystem resilience and reduce environmental degradation. Furthermore, the advancement of value-added agricultural processing and the implementation of innovative water conservation technologies are essential for fostering economic sustainability. These strategies not only mitigate the environmental impacts associated with agricultural practices but also strengthen the region's adaptive capacity in the face of climate change and fluctuating market demands. Our findings contribute to the broader discourse on sustainable agricultural practices, emphasizing the interconnectedness of water management, climate resilience, and economic viability in arid regions. [ABSTRACT FROM AUTHOR]

Water scarcity and ecological degradation in arid zones present significant challenges to regional ecological health. Despite this, integrating the water supply–demand balance and water supply security (SEC) into ecological health assessments—particularly through composite indicators—remains underexplored in arid regions. In this study, we assessed the ecological health changes in Xinjiang by utilizing multivariate remote sensing data, focusing on the balance between water supply and demand, the degree of SEC, and ecosystem resilience (ER). Our results indicate that while water supply and demand remained relatively stable in northern Xinjiang between 2000 and 2020, the conflict between supply and demand intensified in the southern and eastern agricultural regions. SEC evaluations revealed that 73.3% of the region experienced varying degrees of decline over the 20-year period. Additionally, ER assessments showed that 7.12% of the region exhibited a significant decline, with 78.6% experiencing overall reductions in ecological health. The indicators' response to drought demonstrated that improvements in ecological health during wet conditions were less pronounced than declines during droughts. This study underscores the necessity of prioritizing areas with lower ecological health in future water allocation strategies to optimize water resource utilization. [ABSTRACT FROM AUTHOR]

Objectives: To summarize the clinical characteristics and investigate the efficacy of ethanol embolotherapy in the treatment of chest well arteriovenous malformation (AVM). Treatment-associated complications were also explored. Materials and Methods: Between March 2017 and August 2021, 32 consecutive patients (mean age, 23.7 years; age range, 5–54 years) who underwent ethanol embolotherapy for chest well AVMs under general anesthesia were included in this study. Embolization was performed through a direct puncture, transarterial catheterization, or a combination of the 2 procedures. The mean follow-up duration after the last treatment was 18.0 months (range, 3–42 months). The degree of devascularization on follow-up (assessed using angiography or computed tomography), and the clinical signs and symptoms of AVMs were evaluated as the therapeutic outcomes. The major and minor complications associated with the procedures were recorded. Results: A total of 103 embolization procedures (mean, 3.2; range, 2–7) comprising 101 ethanol embolization and 2 coil embolizations were performed on 32 patients with chest wall AVMs. The AVM nidus was accessed through the transarterial approach alone in 4 patients, by direct puncture in 11, and a combined procedure in 17 patients. Overall, more than 80% of the procedures were performed using the combined approach. Complete AVM devascularization was achieved in 12 (37.5%) patients. Moreover, 76% to 99% AVM was achieved in 18 patients (56.3%), and 50% to 75% in 2 patients (6.3%). Bleeding, pain, heart failure, and cosmetic deformities were the indications for treatment. For 3 patients (3/32, 9.4%) who had bleeding, the treatment stopped the hemorrhage. Complete pain relief was reported in 8 patients (8/32, 25.0%), whereas complete relief from congestive heart failure post-embolization was observed in 5 of the 6 patients with congestive heart failure (5/6, 83.3%). Complete correction of cosmesis deformities after embolization was achieved in 10 patients (10/32, 31.3%). Two patients who underwent surgery to correct persistent deformity after embolization only showed insignificant improvement. In addition, 6 (18.8%) patients developed 13 complications including blister, necrosis, hemothorax, transient hemoglobinuria, and transient pulmonary artery hypertension. Conclusions: Ethanol embolotherapy is a safe and effective procedure for chest well AVMs. Surgery is required for some patients with residual cosmesis deformity. Clinical Impact: Currently, there is no standard treatment for chest well AVMs due to their rarity and high heterogeneity. The present study shows that thanol embolotherapy is a safe and clinically effective treatment procedure for the chest well AVMs. Transarterial embolization in combination with direct puncture embolization can reach the AVM nidus. Ethanol embolotherapy can achieve complete obliteration of the AVM nidus in the majority of patients. Surgery may still be needed to correct cosmetic deformity after embolization. The present study provides valuable evidence to inform clinical decision-making. [ABSTRACT FROM AUTHOR]

Reproductive growth is one of the most important stages in the life history of plants and is regulated by photoperiod. However, the effect of different photoperiods after flowering on the reproductive growth stages of different plants and their roles is still unclear. For this reason, this study took the short-day plant strawberry (Fragaria × ananassa Duch. cv. Akihime) as the research object, performed different photoperiod treatments (ND: natural daylight; SD: short daylight; LD: long daylight) after flowering, and studied the effects of photoperiod on fruit growth period, fruit quality, flower opening, and plant height in different inflorescence of fruits. The results showed that different photoperiods had significantly different effects on the growth and development of strawberries after flowering, and LD and SD had opposite effects: (1) Under the condition of SD, the fruit matured after 17 days of treatment, while the LD and ND advanced this by 6 and 5 days. LD could significantly delay the development of the first inflorescence of fruits, resulting in longer ripening period and fruit appearance, and the quality traits were better. (2) The number of flowers in the secondary inflorescence and the development process was effectively accelerated by LD, and the total number of flowers under the long-day treatment was significantly more than that under the short-day treatment and the natural condition from 12 to 25 days after the end of the flowering period. Under the condition of LD, the fruits matured after 53 days of treatment, which was 5 days earlier than the other two treatments, and the period from flowering to maturity was shortened. (3) The effect of different photoperiods on the final plant height of strawberries after flowering had no significant difference (p < 0.05). In conclusion, this study found that photoperiod could effectively regulate the reproductive growth stage of strawberry after flowering, which enriched the experimental material and theoretical basis for studying the photoperiod as a mechanism for regulating plant growth and development, providing technical guidance for artificial regulation of strawberry growth period and fruit quality. [ABSTRACT FROM AUTHOR]

Abstract PIK3CA-related overgrowth spectrum (PROS) is a series of congenital, sporadic disorders that are associated with segmental overgrowth phenotypes and postzygotic, somatic gene mutations in the PIK3CA-ATK-mTOR pathway. The variability and overlapping phenotypes between PROS and other complex vascular malformations make the differential diagnosis confusing and challenging. PROS should be considered for the differential diagnosis with other complex vascular malformations and syndromes with a tissue overgrowth phenotype, such as Parkes-Weber syndrome (PWS). Herein, we diagnosed one unique clinically challenging case manifested as capillary malformation (CM), limb overgrowth, as well as increased skin temperature and peripheral venous dilatation of lower limb that indicated a potential fast-flow lesion. The patient was initially diagnosed with PWS. Contrary to the previous diagnosis, based on further MR imaging and digital subtraction angiography (DSA), which ruled out the existence of AVMs and AVFs, and molecular analysis with targeted next-generation sequencing (NGS) revealing a somatic PIK3CA mutation, we ultimately diagnosed that the patient had a unique form of PROS simulating PWS phenotypes. We suggest that it is important to propose the differential diagnosis of PWS and PROS, two diseases that share a common overgrowth phenotype. We recommended radiological diagnosis such as MRI, CT and DSA as well as further molecular diagnosis to provide more information for the assessment of vascular lesions and to further guide clinical treatment strategies.

Abstract Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas. Complications of MS, such as bone deformities and dysfunction caused by enchondromas, usually increase during childhood and adolescence. Malignant transformation of enchondromas and other malignancies are the most severe complications. MS is caused by somatic mosaic IDH1/2 mutations, 65% of which are the IDH1 p.Arg132Cys variant. Due to its rarity, there is no international consensus for the most appropriate treatment option of MS. Here, we report a case of a female patient presenting with multiple enchondromas and spindle cell hemangiomas (SCHs) on bilateral hand and feet diagnosed as MS. A detailed clinical, pathological and genetic diagnosis of MS was rendered. Integrative Genomics Viewer (IGV) visualization of next-generation sequencing (NGS) data revealed the consistent detection of the low-frequency somatic IDH1 p.Arg132Cys mutation between SCH tissue and cystic blood-derived cfDNA. This is the first successful molecular diagnosis of MS complicated with SCH utilizing minimally invasive cfDNA techniques. We suggest that cfDNA sequencing could potentially be used as an alternative, reliable and sensitive method to identify molecular information for genetic diagnosis and for future targeted therapies of MS.

Abstract Background Anterior cruciate ligament transection surgery (ACLT)-induced OA model was often used to investigate the molecular mechanism of knee osteoarthritis (KOA). Researches have shown that vascular endothelial growth factor (VEGF) played an important role in OA. The present study aimed to investigate the pathological changes after ACLT surgery and reveal the expression characteristics of the VEGF-A/VEGFR2 signaling pathway in this model. Methods Moderate KOA model was established by ACLT, and 1, 2, 4, 8, and 12 weeks after surgery, hematoxylin-eosin (HE) and Safranin-O(S-O) staining were used to detect the pathological changes in mouse knee cartilage, and the matrix biomarkers A Disintegrin and Metalloproteinase with Thrombospondin Motifs 5(ADAMTS5), Collagen II (COL-II) were detected using immunohistochemistry (IHC), CD31 was detected by immunofluorescence (IF) to show the vascular invasion in cartilage, and proteins expression of VEGF-A pathway were detected by Western blot (WB). Meanwhile, the inflammatory biomarkers cyclooxygenase-2 (COX-2) and inducible nitric oxide synthase (iNOS) in cartilage were detected by WB. Results ACLT surgery can lead to degeneration of cartilage in mice, and the characteristics of the lesion were time-dependent. The ADAMTS5-positive cells increased while COL-II decreased in OA cartilage with time, and new blood vessels labeled by CD31 can be seen from 1 week in OA cartilage, and increased in 8 and 12 weeks. The expression of VEGF-A, VEGFR2, COX-2, and iNOS were higher than control groups, which were basically consistent with the degree of osteoarthritis. Conclusions The degenerative degree of articular cartilage was time-dependent; angiogenesis and inflammation were important pathological changes of cartilage in KOA. The expression of the VEGF-A/VEGFR2 signaling pathway was basically correlated with the degree of KOA.

The high safety, compatible device size, superior energy density, and cost efficiency make in-plane aqueous zinc-ion microbatteries (AZIMBs) one of the most promising candidates for miniaturized energy storage. However, the inherent stacking structure within in-plane AZIMBs poses a hindrance to improving their energy density. Herein, this work presents a one-step approach for fabricating 3D cross-linked structures in V2CTx@rGO microelectrodes by laser processing technology, aiming to enhance the electrochemical performance of AZIMBs within a limited area by exploiting the vertical dimension of 3D architectures. The laser heat generated during laser processing induces the conversion of a 2D V2CTx@GO stacked structure into a 3D V2CTx@rGO skeleton structure, enabling the microelectrode to possess an optimal 3D conductive network, efficient charge transport pathway, and complete exposure of active sites. Moreover, the utilization of vanadium-based oxides derived from V2CTx MXene nanosheets on the surface during charging enhances the electrochemical performance of 3D AZIMBs. The obtained 3D VOx-V2CTx@rGO microelectrodes exhibit excellent rate performance, demonstrating an average reversible capacity ranging from 459 to 342 mA h g−1 at current densities varying from 0.8 to 2.5 A g−1, respectively. Additionally, the fabricated 3D VOx-V2CTx@rGO AZIMBs demonstrate exceptional flexibility and integrability, thus showing significant potential in microsized energy storage devices. [ABSTRACT FROM AUTHOR]

Human activities and climate change have profound impacts on the ecological environment of oases in Xinjiang, and it is of great significance to explore the spatial and temporal evolution patterns of ecological environment quality in this region for the sustainable development of Xinjiang. The remote sensing ecological index (RSEI) was extracted from the Google Earth Engine (GEE) platform from 2000 to 2020, and the coefficient of variation and Hurst index were used to reveal the spatial and temporal characteristics and stability of the ecological environment quality of the artificial oasis and natural oasis in Xinjiang. The key factors affecting the ecological environment quality are explored through correlation analysis and geoprobes. The results show that the distribution of the ecological environment in Xinjiang oases is high in the north and low in the south, and the overall quality shows a fluctuating downward trend from 0.210 to 0.189. Artificial oases have higher RSEI values, stability, and sustainability than natural oases. The RSEI in the study area was mainly influenced by humidity, followed by greenness and heat, and dryness had the least influence on the RSEI model. Based on the geodetector, the top three highest contributors were found to be precipitation (PRE) (0.83) > relative humidity (RHU) (0.82) > evapotranspiration (ET) (0.57). Climate is the main factor affecting the ecological quality of oases, and the RSEI can be improved by increasing the proportion of artificial oases. The study aims to provide a scientific basis for the sustainable development of oases in arid zones. [ABSTRACT FROM AUTHOR]

Abstract Congenital melanocytic nevus (CMN) represent a benign proliferative skin disease in the epidermis and dermis. CMN are historically known to be associated with activating NRAS or BRAF mutations. Melanoma frequently harbors the BRAF p.Val600Glu mutation, which is also commonly found in benign nevi. A recent study reported mutation of MAP2K1, a downstream effector of the RAS-RAF-MEK pathway, in melanoma with an overall frequency of 8%. Later, in 2019, Jansen P detected one activating MAP2K1 mutation in acral nevi. However, it is unknown whether MAP2K1 mutations are common in CMN, and how MAP2K1 contributes to the pathogenesis of CMN remains to be determined. In this study, we report one patient clinically and histologically diagnosed with CMN, with the MAP2K1 germline mutation and a BRAF p.Val600Glu somatic hit in the lesion. To the best of our knowledge, this is the first report of the coexistence of mutated BRAF and MAP2K1 in CMN, which may suggest that MAP2K1 mutations contribute to the occurrence and development of nevus expanding our knowledge of the genetics of CMN.

Abstract Capillary malformation-arteriovenous malformations (CM-AVMs) caused by a RASA-1 or EPHB4 mutation are characterized as hereditary sporadic or multifocal capillary malformations (CMs), associated with potential fast-flow vascular anomalies underlying erythema lesions. Because of the similar phenotype, CM-AVMs should be considered in the differential diagnosis of isolated CMs as well as other disorders with an erythema phenotype, such as hereditary hemorrhagic telangiectasia (HHT). Herein, we report a male patient with facial erythema. Red lesions were located in the V1 region of his left face, the V2 and V3 regions on his right side, and the nasal back. The patient was initially thought to have PWSs because of the unilateral and segmental distribution of his red facial lesions. In contrast to a previous diagnosis, we diagnosed the child with capillary malformation-arteriovenous malformation type 2 (CM-AVM2) based on a family history of erythema, the results of physical examination and ultrasound raising potential fast-flow lesions, and a genetic study revealing a germline EPHB4 mutation. This study emphasizes the importance of differential diagnosis for PWS and CM-AVM. A single clinical diagnosis can be limited, and molecular diagnosis is recommended to provide more information for the evaluation of the potential risk of fast-flow lesions underlying erythema lesions if necessary.

Abstract Congenital melanocytic nevus (CMN) is a benign proliferative skin disease in the epidermis and dermis. Large to giant CMNs are estimated to be associated with an increased lifetime risk of malignancy. It is necessary to estimate and monitor the risk of malignant transformation for giant CMNs. To date, the clinical “ABCD” criteria and immunohistochemistry studies can be confusing and, to some extent, subjective. Accordingly, the elucidation of genomic analyses of nevi is required to better understand the malignant transformation of CMNs. Here, we describe two large to giant CMNs of the scalp with opposite clinical-histological and molecular evaluations of potential malignancy risk. To our knowledge, this is the first description of a genetic study of large to giant CMNs of the scalp in East Asia. We recommend reviewing the molecular diagnosis together with careful medical history and histological information to facilitate the evaluation of the potential malignancy risk.

A prerequisite for the rational development and utilization of regional water resources is the measurement of water stress. In this study, from the perspective of water footprints, we took the proportion of the agricultural water footprint within the total water resource usage of Xinjiang (hereafter referred to as XJ) as an example to measure its water stress index and explore the state of water stress in the region and its corresponding driving factors. The ESDA method was applied to characterize the spatial patterns of and correlations with water stress. The effects of different factors on the spatial differentiation between the water footprint and water stress were quantified using the LMDI and geoprobes, respectively. The results showed that (1) both the agricultural water footprint and the water stress index in XJ showed an upward trend, the spatial distribution of water stress was uneven, and the regional pressure difference between the east and the west was greater than that between the north and the south; (2) the water stress index has an obvious negative spatial correlation, fluctuations in its discrete nature have been enhanced, and the number of spatially correlated prefectures is decreasing; (3) water consumption of CNY 10,000 GDP, GDP per capita, and total CO2 emissions have the most significant impact on the evolution of the agricultural water footprint in XJ. Meanwhile, spatial variations in water stress are mainly determined by the area of cultivation, the area of natural oasis, and the proportion of water used in agriculture. Analysis of the characteristics of and factors influencing water stress in XJ from the perspective of its agricultural water footprint provides a new perspective for further analyzing the actual state of the water footprint and water stress in XJ and supplies a reference basis for the decision-makers of the XJ government. [ABSTRACT FROM AUTHOR]

Network traffic prediction is an important tool for the management and control of IoT, and timely and accurate traffic prediction models play a crucial role in improving the IoT service quality. The degree of burstiness in intelligent network traffic is high, which creates problems for prediction. To address the problem faced by traditional statistical models, which cannot effectively extract traffic features when dealing with inadequate sample data, in addition to the poor interpretability of deep models, this paper proposes a prediction model (fusion prior knowledge network) that incorporates prior knowledge into the neural network training process. The model takes the self-similarity of network traffic as a priori knowledge, incorporates it into the gating mechanism of the long short-term memory neural network, and combines a one-dimensional convolutional neural network with an attention mechanism to extract the temporal features of the traffic sequence. The experiments show that the model can better recover the characteristics of the original data. Compared with the traditional prediction model, the proposed model can better describe the trend of network traffic. In addition, the model produces an interpretable prediction result with an absolute correction factor of 76.4%, which is at least 10% better than the traditional statistical model.

Abstract Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RASA-1 gene causing loss of function (LOF) of the RasGAP domain. To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia. This report may extend our understanding and support further studies of CM-AVM in East Asia.

An efficient and durable free-standing electrocatalyst is the key to achieving pH-universal hydrogen evolution reaction under ultra-high current density. Herein, the free-standing three-stage concentric shaft structure of MoC@C shell-supported MoC nanoparticles anchored Ni@N-doped carbon nanotube vertical nanoarrays (P-MoC/Ni@NCNTs-MoC@C) are fabricated through a simple spraying and pyrolysis process. The formation of a MoC@C shell facilitates Ni nanoparticles' anchoring, resulting in Ni@N-doped carbon nanotube vertical arrays (Ni@NCNTs). Additionally, the Ni@NCNTs effectively capture the escaped molybdenum vapor, leading to the generation of MoC nanoparticles. The unique structure provides increased catalytic active sites and larger specific surface area, improving charge transfer and the release of bubbles. As such, the free-standing P-MoC/Ni@NCNTs-MoC@C catalyst exhibits lower overpotentials compared to previously reported articles, with values of 238.1 mV in 1.0 M KOH (1800 mA cm−2), 250.2 mV in 0.5 M H2SO4 (1800 mA cm−2), and 567.9 mV in 1.0 M PBS (1000 mA cm−2). Additionally, it represents low Tafel slopes of 71.1 mV dec−1, 67.4 mV dec−1, and 130.3 mV dec−1 in alkaline, acidic, and neutral condition, respectively. The current work may provide insight into the rational design of free-standing catalysts for practical applications. [ABSTRACT FROM AUTHOR]

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 β-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis. In the molecular screening analysis of the 10,111 couples, we detected 4180 individuals in total who carried 4840 mutant alleles, and identified 186 couples at risk of having affected offspring. 12.1% of the pathogenic or likely pathogenic variants identified by our NGS assay, which were undetectable by traditional methods. Compared with the traditional methods, our assay identified an additional at-risk 35 couples. We describe a comprehensive NGS-based test that offers advantages over the traditional screening/molecular testing methods. To our knowledge, this is among the first large-scale population study to systematically evaluate the application of an NGS technique in carrier screening and molecular diagnosis of hemoglobinopathies.