Identification of potential genetic Loci and polygenic risk model for Budd-Chiari syndrome in Chinese population.

Budd-Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction, posing life-threatening risks in severe cases. Reported risk factors include inherited and acquired hypercoagulable states or other predisposing factors. However, many patients have no identifiable etiology, and causes of BCS differ between the West and East. This study recruited 500 BCS patients and 696 normal individuals for whole-exome sequencing and developed a polygenic risk scoring (PRS) model using PLINK, LASSOSUM, BLUP, and BayesA methods. Risk factors for venous thromboembolism and vascular malformations were also assessed for BCS risk prediction. Ultimately, we discovered potential BCS risk mutations, such as rs1042331, and the optimal BayesA-generated PRS model presented an AUC >0.9 in the external replication cohort. This model provides particular insights into genetic risk differences between China and the West and suggests shared genetic risks among BCS, venous thromboembolism, and vascular malformations, offering different perspectives on BCS pathogenesis.

Relationship between carbon pool changes and environmental changes in arid and semi-arid steppe-A two decades study in Inner Mongolia, China.

As the arid and semi-arid grassland with the most extensive distribution area in northern China, the carbon stored in Inner Mongolia (IM) grassland is highly susceptible to environmental changes. With the global warming and drastic climate changes, exploring the relationship between carbon pool changes and environmental changes and their spatiotemporal heterogeneity is necessary. This study estimates the carbon pool distribution of IM grassland during 2003-2020 by combining the measured below ground biomass (BGB) dataset, measured soil organic carbon (SOC) dataset, multi-source satellite remote sensing data products, and random forest regression modeling method. It also discusses the variation trend of BGB/SOC and its correlation with critical environmental factors, vegetation condition factors and drought index. The results show that the BGB/SOC in IM grassland was stable during 2003-2020, with a weak upward trend. The correlation analysis reveals that high temperature and drought environment were unfavorable for developing vegetation roots and would lead to a decrease in BGB. Furthermore, temperature rise, soil moisture decrease, and drought adversely effected grassland biomass and SOC in areas with low altitude, high SOC density, suitable temperature and humidity. However, in areas with relatively poor natural environments and relatively low SOC content, SOC was not significantly affected by environmental deterioration and even showed an accumulation trend. These conclusions provide directions for SOC treatment and protection. In areas where SOC is abundant, it is important to reduce carbon loss caused by environmental changes. However, in areas with poor SOC, due to the high carbon storage potential of grasslands, carbon storage can be improved through scientifically managing grazing and protecting vulnerable grasslands.

Nanoalloy libraries from laser-induced thermionic emission reduction.

Nanoalloys, especially high-entropy nanoalloys (HENAs) that contain equal stoichiometric metallic elements in each nanoparticle, are widely used in vast applications. Currently, the synthesis of HENAs is challenged by slow reaction kinetics that leads to phase segregation, sophisticated pretreatment of precursors, and inert conditions that preclude scalable fabrication of HENAs. Here, we report direct conversion of metal salts to ultrafine HENAs on carbonaceous support by nanosecond pulsed laser under atmospheric conditions. Because of the unique laser-induced thermionic emission and etch on carbon, the reduced metal elements were gathered to ultrafine HENAs and stabilized by defective carbon support. This scalable, facile, and low-cost method overcomes the immiscible issue and can produce various HENAs uniformly with a size of 1 to 3 nanometers and metal elements up to 11 with productivity up to 7 grams per hour. One of the senary HENAs exhibited excellent catalytic performance in oxygen reduction reaction, manifesting great potential in practical applications.

Bionic Optical Leaf for Photoreduction of CO2 from Noble Metal Atom Mediated Graphene Nanobubble Arrays.

The reduction of CO2 to useful chemicals by solar irradiation has been of great interest in recent years to tackle the greenhouse effect. Compared with inorganic metal oxide particles, carbonaceous materials, such as graphene, are excellent in light absorption; however, they lack in activity and selectivity because of the challenge to manipulate the band gap and optimize the electron-hole separation, which drives the photoreduction process. In this work, inspired by the delicate natural plant leaf structure, we fabricated orderly stacked graphene nanobubble arrays with nitrogen dopant for the coordination of noble metal atoms to mimic the natural photoreduction process in plant leaves. This graphene metamaterial not only mimics the optical structure of leaf cells, which scatter and absorb light efficiently, but also drives the CO2 reduction via nitrogen coordinated metal atoms as the chlorophyll does in plants. Our characterizations show that the band gap of nitrogen-doped graphene could be precisely tailored via substitution with different noble metal atoms on the doped site. The noble atoms coordinated on the doped site of graphene metamaterial not only enlarge the light absorption volume but also maximize the utilization of noble metals. The bionic optical leaf metamaterial coordinated with Au atoms exhibits high CO productivity up to 11.14 mmol gcat-1 h-1 and selectivity to 95%, standing as one of the best catalysts among the carbonaceous and metal-based catalysts reported to date. This catalyst also maintained a high performance at low temperatures, manifesting potential applications of this bionic catalyst at polar regions to reduce greenhouse gases.

3D MOF Nanoarchitecture Membrane via Ultrafast Laser Nanoforging.

Metal-organic framework (MOF) crystals are useful in a vast area of applications because of their unique chemical and physical properties. Manufacturing of an integrated MOF membrane with 3D nanoarchitectures on the surface is especially important for their applications. However, as MOF crystals usually exist as powdery crystals, fabrication of their large area, monolithic, and high-resolution patterns is challenging. Here, it is found that isolated MOF nanocrystals could be directly converted to a monolithic MOF film with designed 3D nanoarchitectures/patterns via an ultrafast laser induced nanoforging without binders. During the nanosecond laser shock, the voids among MOF nanocrystals are eliminated due to the surface amorphization effect, which allows the fusing of the MOF nanocrystals on the grain boundaries, leading to the formation of a dense film while preserving the nature of the pristine MOF. The high strain rate by laser enhances formability of MOFs and overcomes their brittleness to generate arbitrary 3D nanoarchitectures with feature sizes down to 100 nm and high productivity up to 80 cm2 min-1 . These 3D MOF nanoarchitectures also exhibit boosted mechanical strength up to 100% compared with their powdery particles. This method is facile and low-cost and could potentially be used in various fields, such as devices, separation, and biochemical applications.

Magnetically Aligned Ultrafine Cobalt Embedded 3D Porous Carbon Metamaterial by One-Step Ultrafast Laser Direct Writing.

Spatial manipulation of nanoparticles (NPs) in a controlled manner is critical for the fabrication of 3D hybrid materials with unique functions. However, traditional fabrication methods such as electron-beam lithography and stereolithography are usually costly and time-consuming, precluding their production on a large scale. Herein, for the first time the ultrafast laser direct writing is combined with external magnetic field (MF) to massively produce graphene-coated ultrafine cobalt nanoparticles supported on 3D porous carbon using metal-organic framework crystals as precursors (5 × 5 cm2 with 10 s). The MF-confined picosecond laser scribing not only reduces the metal ions rapidly but also aligns the NPs in ultrafine and evenly distributed order (from 7.82 ± 2.37 to 3.80 ± 0.84 nm). ≈400% increment of N-Q species within N compositionis also found as the result of the special MF-induced laser plasma plume. (). The importance of MF is further exmined by electrochemical water-splitting tests. Significant overpotential improvements of 90 and 150 mV for oxygen evolution reaction and hydrogen evolution reaction are observed, respectively, owing to the MF-induced alignment of the NPs and controlled elemental compositions. This work provides a general bottom-up approach for the synthesis of metamaterials with high outputs yet a simple setup.

[Temporal and Spatial Distribution Characteristics of Aerosol Optical Properties in Urban Agglomerations on the North Slope of the Tianshan Mountains].

In order to explore the temporal and spatial distribution characteristics of atmospheric aerosol optical depth (AOD) in the urban agglomeration on the northern slope of the Tianshan Mountains, the temporal and spatial distribution characteristics and trends of changes in the AOD in the study area from 2000 to 2019 were analyzed by MODIS aerosol products(MCD19-A2). For 2016-2019, when the AOD was relatively stable, the parameters such as the AOD and Ångström wavelength index (α) were analyzed using multi-band sun photometer ground-based remote sensing technology. The results showed that ① the spatial distribution of AOD in the study area was consistent with the topography, and high values were mainly distributed in the low altitude area. The spatial distribution of AOD in the four seasons showed a strong seasonal change from spring (0.15±0.03) > autumn (0.14±0.03) > summer (0.14±0.02). ② In terms of time, the annual average AOD value of the study area was 0.12 from 2000 to 2019 with an annual growth rate of 1.03%, thereby showing an overall increasing trend. The annual variation in the monthly mean value of AOD was bimodal; the first and second peaks were in May and November. The main reason for the increase in AOD was the release and transmission of dust from natural sources and heating. ③ Under the influence of dust weather, the AOD changed sharply in spring, and the size and change range of aerosol particles were larger than those in summer. The high value of AOD in the study area was mainly affected by coarse mode particles. The moisture absorption growth of fine mode particles caused a fluctuation in the AOD, but it was not the cause of the high value of AOD.

Nanoscale Laser Metallurgy and Patterning in Air Using MOFs.

We report metallurgy on the nanoscale to generate metal nanoparticles and their simultaneous patterning in a single step. This is achieved by the self-reduction of porous metal-organic framework crystals using nanosecond pulsed laser irradiation. Metal nanoparticles of Fe, Co, Ni, Cu, Zn, Cd, In, Bi, and Pb with uniform sizes (controllable between 3 to 200 nm) and gaps (as narrow as 2 nm) are produced by nine different metal-organic frameworks, where atomically dispersed non-noble metal ions are reduced and gathered across the pores. The instant light absorption and cooling at local positions by a laser allows for precise and efficient patterning of metal nanoparticles. This new method is suitable for device fabrication at a speed of 15 mm2 s-1 on glass, consuming only 1.5 W of power. A large variety of metal nanoparticle three-dimensional architectures are demonstrated, among which one architecture exhibits an enhanced plasmonic effect homogeneously across the entire pattern for the detection of molecules at an extremely low concentration (10-12 M). These architectures are extremely stable under air and humidity during production, use, and storage, without altering the oxidation state, for 6 months.

Kaposiform hemangioendothelioma without cutaneous involvement.

PURPOSE: We sought to characterize the clinical features and management of patients diagnosed as Kaposiform hemangioendothelioma (KHE) without cutaneous involvement. METHODS: The electronic patient chats at six Triple A hospitals in China were searched to find all patient diagnoses with KHE without cutaneous involvement. RESULTS: Of 30 patients (mean age at diagnosis, 55.6 months), 17 (56.7%) were male. Fourteen (46.7%) patients were associated with Kasabach-Merritt phenomenon (KMP). Patients with KMP were significantly more likely to have lesions involving truck compared to patients without KMP (odds ratio 10.000; 95% confidence interval 1.641-60.921; P = 0.011). Other common complication included severe anemia and decreased range of motion. In the majority of cases (93.3%), the lesions were highly infiltrative and locally invasive with ill-defined margins. Histological examination was required in all patients without KMP for precise diagnosis. In all, 16 (53.3%) patients received corticosteroid treatment, 19 (63.3%) received oral sirolimus treatment, 7 (23.3%) received intravenous vincristine, and 5 (16.7%) patients used propranolol. Patients had varied responses to conventional drugs, whereas all patients receiving sirolimus treatment had better response. In all, three patients (10%) died of disease, all presented with KMP. Feature of these recalcitrant cases (death) included young age, visceral location, extensive involvement, and lack of improvement with high-dose corticosteroids. CONCLUSIONS: Our study clearly demonstrated that KHE without cutaneous involvement could be associated with important complication, which might result in death or severe morbidity. Increased awareness of KHE without cutaneous involvement is required for early diagnosis and aggressive therapy in an attempt to prevent complication.

Musculoskeletal complication in kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon: clinical characteristics and management.

PURPOSE: Musculoskeletal complications have been associated with kaposiform hemangioendothelioma (KHE) and can lead to disability and reduced quality of life. We aimed to determine the clinical characteristics of musculoskeletal complication in patients with KHE without Kasabach-Merritt phenomenon (KMP) in order to identify features that may aid clinicians in KHE treatment. PATIENTS AND METHODS: We conducted a cohort study of KHE without KMP associated with musculoskeletal complication between January 2006 and February 2017 at three tertiary medical centers in China. The study included 29 nonthrombocytopenic patients with KHE and musculoskeletal complication. RESULTS: The mean age at diagnosis of KHE was 4.5 years (range, 0.3-50.0 years). The mean follow-up was 4.1 years (range, 0.5-9.0 years). In most cases (72.4%), decreased range of motion (ROM) appeared within 2 years of KHE onset. Associated chronic pain was reported in 12 patients. Bone-joint changes were common in patients with decreased ROM (75.9%). All the patients received at least one medical therapy including corticosteroids, vincristine, propranolol, and sirolimus. Sirolimus demonstrated the highest efficacy rate, with 94.7% of patients showing improvements in ROM and chronic pain. CONCLUSION: Musculoskeletal complication can occur early in the disease course of KHE without KMP. Although no uniformly effective treatment modality was found, sirolimus demonstrated the best response in patients with KHE with decreased ROM and chronic pain.

Sirolimus for the treatment of progressive kaposiform hemangioendothelioma: A multicenter retrospective study.

Kaposiform hemangioendothelioma (KHE) is an aggressive disease with high morbidity and mortality. The aim of this study was to retrospectively evaluate the efficacy and safety of sirolimus for the treatment of progressive KHE. A multicenter, retrospective cohort study was conducted in patients with progressive KHE treated with sirolimus. A total of 52 patients were analyzed. Thirty-seven (71%) patients exhibited Kasabach-Merritt phenomenon (KMP) and were significantly younger than the patients without KMP [95% confidence interval (CI), 14.39-41.61; p < 0.001]. Patients without KMP were all treated with sirolimus alone, whereas 21 KMP patients with severe symptoms received short-term combination therapy with prednisolone. Overall, 96% and 98% of patients showed improved relief of notable symptoms and/or improved complications at 6 and 12 months after treatment, respectively. After sirolimus treatment, significant decreases in mean severity scores occurred at 6 months (95% CI, 2.23-2.54, p < 0.001) and 12 months (95% CI, 1.53-1.90, p < 0.001). Compared to KMP patients, patients without KMP showed a response that was similar to but less pronounced during the 12 months of treatment (95% CI, 40.87-53.80; p < 0.001). For subgroup analysis of KMP patients, there were no significant differences in tumor shrinkage between those treated with combination therapy and those receiving sirolimus alone (95% CI, 18.11-25.02; p > 0.05). No patients permanently discontinued treatment due to toxicity-related events, and no drug-related deaths occurred. Sirolimus was effective and safe for the treatment of progressive KHE. Sirolimus may be considered as a first-line therapy or as part of a multidisciplinary approach for the treatment of KHE.

Clinical features and management of multifocal hepatic hemangiomas in children: a retrospective study.

Multifocal hepatic hemangioma (MHH) is a benign hepatic tumor that is commonly diagnosed in children with multiple cutaneous infantile hemangiomas (IHs). We present a review of all children with MHH at our institutions. Of the 42 patients, the median age at presentation of MHH was 2.5 months. Thirty-six (85.7%) patients had cutaneous IHs. Twelve (28.6%) patients were symptomatic at presentation. There was no significant association between the number of hepatic hemangiomas and the number of cutaneous IHs. Fourteen (33.3%) patients received some form of treatment for hepatic hemangiomas. The most common type of treatment was oral prednisone in 8 patients, followed by oral propranolol in 6 patients. Two patients were totally resistant to prednisone treatment. They died from congestive heart failure or respiratory distress and coagulopathy. Two patients with problematic facial IH were treated with intralesional triamcinolone injection. The remaining 26 patients were managed with imaging surveillance. On follow-up, all of the survivors had a favorable outcome. Our study suggests that the clinical features of MHH are variable. Our data emphasize the treatment strategy that aggressive treatment is indicated in symptomatic or progressive MHHs, whereas observation management of asymptomatic patients with a few small lesions is safe and appropriate.

[Accuracy evaluation of mammography in the breast cancer screening in Asian women: a community-based follow-up study and meta analysis].

OBJECTIVE: To evaluate the accuracy of mammography in breast cancer screening in Asian women. METHODS: 8718 community women in Chengdu were examined by mammography during the routine physical examination from Mar. 2002 to Sep. 2007. Pathological diagnosis and following up results were used as the gold standards for X-ray-positive and -negative findings. The sensitivity, specificity and diagnosis odds ratio were calculated as accuracy indexes. Large scale follow-up studies of breast cancer screening in community in Asian women were collected to evaluate the pooled accuracy of mammography. Diagnosis meta-analysis was conducted with Meta-Disc software to estimate the pooled sensitivity, specificity and DOR, and draw the summary receiver operating characteristic (SROC). RESULTS: The data of seven studies were included with a total of 223 619 women received mammography for screening breast cancer. The sensitivity (95%CI) and specificity (95%CI) of mammography of community-based follow-up study in Chengdu were 0.889 (0.741 - 0.970) and 0.991 (0.987 - 0.993), respectively. Referring to meta-analysis, random effects models were adopted due to existed heterogeneity among studies. The pooled sensitivity, specificity, DOR with their 95% confidence intervals were 0.845 (0.821 - 0.870), 0.930 (0.929 - 0.931) and 117.271 (65.060 - 211.412), respectively. The Area Under the Curve (AUC) of SROC was 0.9144. CONCLUSION: Due to its high accuracy, mammography deserves to be recommend in breast cancer screening in Asian women.

[Effects of Astragalus Membranaceus Injection on TNF-alpha-induced release of inflammatory factors from HUVECs and the molecular mechanisms].

OBJECTIVE: To investigate the protective effect of Astragalus Membranaceus Injection on human umbilical vein endothelial cells (HUVECs) against tumor necrosis factor alpha (TNF-alpha). METHODS: Cultured passage 2 HUVECs were stimulated with TNF-alpha with or without a 2-h Astragalus Membranaceus Injection treatment. The expression of nuclear factor-kappaB (NF-kappaB) subunit p65 were evaluated by immuncytochemistical method, and the levels of p65 in the nuclei and the protein Ikappabetaalpha in the cytoplasm were evaluated by Western blotting. The levels of interleukin-6 (IL-6) and soluble intracellular adhesion molecule-1 (sICAM-1) in the cell culture were determined with ELISA. RESULTS: TNF-alpha induced the activation of NF-kappaB and increased the expressions of IL-6 and sICAM-1 in HUVECs. The activation of NF-kappabeta by TNF-alpha was suppressed by Astragalus Membranaceus Injection in a dose-dependent manner. CONCLUSION: Astragalus Membranaceus Injection can inhibit the TNF-alpha-induced expression of IL-6 and sICAM-1 by suppressing NF-kappabeta activation, suggesting its protective effect on the endothelial function.