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Purpose Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic loss-of-function variant of tRNA nucleotidyl transferase 1 (TRNT1). Efficacious methods to treat SIFD are lacking. We identified two novel mutations in TRNT1 and an efficacious and novel therapy for SIFD. Methods We retrospectively summarized the clinical records of two patients with SIFD from different families and reviewed all published cases of SIFD. Results Both patients had periodic fever, developmental delay, rash, microcytic anemia, and B cell lymphopenia with infections. Whole-exome sequencing of patient 1 identified a previously unreported homozygous mutation of TRNT1 (c.706G > A/p.Glu236Lys). He received intravenous immunoglobulin (IVIG) replacement and antibiotics, but died at 1 year of age. Gene testing in patient 2 revealed compound heterozygous mutations (c.907C > G/p.Gln303Glu and c.88A > G/p.Met30Val) in TRNT1, the former of which is a novel mutation. Periodic fever was controlled in the first month after adalimumab therapy and IVIG replacement, but recurred in the second month. Adalimumab was discontinued and replaced with thalidomide, which controlled the periodic fever and normalized inflammatory markers effectively. A retrospective analysis of reported cases revealed 69 patients with SIFD carrying 46 mutations. The male: female ratio was 1: 1, and the mean age of onset was 3.0 months. The most common clinical manifestations in patients with SIFD were microcytic anemia (82.6%), hypogammaglobulinemia/B cell lymphopenia (75.4%), periodic fever (66.7%), and developmental delay (60.0%). In addition to the typical tetralogy, SIFD features several heterogeneous symptoms involving multiple systems. Corticosteroids, immunosuppressants, and anakinra have low efficacy, whereas etanercept suppressed fever and improved anemia in reports. Bone-marrow transplantation can be used to treat severe SIFD, but carries a high risk. In total, 28.2% (20/71) of reported patients died, mainly because of multi-organ failure. Biallelic mutations located in exon1-intron5 lead to more severe phenotypes and higher mortality. Furthermore, 15.5% (11/71) patients survived to adulthood. The symptoms could be resolved spontaneously in five patients. Conclusions Thalidomide can control the inflammation of SIFD and represents a new treatment for SIFD.

Cerebral venous sinus thrombosis (CVST) is a rare complication of childhood-onset SLE (cSLE) and is potentially fatal to the patient. In order to better define the characteristics of CVST in cSLE, we analysed a single-centre study of cSLE presenting with CVST.Clinical characteristics and laboratory findings of cSLE patients complicated with CVST from January 2006 to December 2019 were analysed through this retrospective, single-centre study.A total of 1395 records of cSLE patients were reviewed. Five patients (0.36%) had CVST. Headache (80%) was the most frequent symptom. The transverse sinus (45%) was the most frequent location of thrombus, followed by the sigmoid sinus (27%). The SLE disease activity index (SLEDAI) at the time of CVST was 11±3. The D-dimer was elevated in all 5 cases, only one patient was positive for ACL and anti-β2GP-I IgM. All the patients underwent MRV screen to confirm the diagnosis. All the patients had a favourable outcome after receiving glucocorticoid and immunosuppressant treatment, as well as anticoagulant therapy.CVST is relatively rare in cSLE and tends to occur in active lupus patients. Severe and persistent headache is an index of CVST. Early diagnosis and more intensive therapy for SLE, combined with anticoagulation therapy, could significantly improve the prognosis of CVST in cSLE.

The effect of gases on the surface composition of Cu–Pt bimetallic catalysts has been tested by in situ infrared (IR) and x-ray absorption spectroscopies. Diffusion of Pt atoms within the Cu–Pt nanoparticles was observed both in vacuum and under gaseous atmospheres. Vacuum IR spectra of CO adsorbed on CuPtx/SBA-15 catalysts (x = 0–∞) at 125 K showed no bonding on Pt regardless of Pt content, but reversible Pt segregation to the surface was seen with the high-Pt-content (x ≥ 0.2) samples upon heating to 225 K. In situ IR spectra in CO atmospheres also highlighted the reversible segregation of Pt to the surface and its diffusion back into the bulk when cycling the temperature from 295 to 495 K and back, most evidently for diluted single-atom alloy catalysts (x ≤ 0.01). Similar behavior was possibly observed under H2 using small amounts of CO as a probe molecule. In situ x-ray absorption near-edge structure data obtained for CuPt0.2/SBA-15 under both CO and He pointed to the metallic nature of the Pt atoms irrespective of gas or temperature, but analysis of the extended x-ray absorption fine structure identified a change in coordination environment around the Pt atoms, from a (Pt–Cu):(Pt–Pt) coordination number ratio of ∼6:6 at or below 445 K to 8:4 at 495 K. The main conclusion is that Cu–Pt bimetallic catalysts are dynamic, with the composition of their surfaces being dependent on temperature in gaseous environments.

In this study, we reported a patient who presents with multicentric reticulohistiocytosis (MRH)-like clinical feature, but the histology is not compatible with it. Like our patient, a couple of patients described previously also had the dilemma that they could not be classified appropriately into any current histiocytosis entity. Considering the clinical and pathological features together, all these patients had a similar clinical profile: xanthomatous rash, erosive arthritis and histopathological findings showing xanthomized histiocytes. Therefore, we propose a new disease entity - xanthomatous erosive arthritis (XEA), to accommodate these patients that cannot be classified appropriately into the current system.

Based on a set of hindcast experiments from 2011 to 2020, the prediction skills of the Chinese Academy of Meteorological Science Climate System Model (CAMS-CSM) climate forecast system on the features of abrupt change, characteristic process around the South China Sea (SCS) Summer Monsoon (SCSSM) establishment and the interannual variations are evaluated by using the ERA5 reanalysis and NOAA OLR data. The predictions are classified into three categories according to the length of lead time, that is, 1-30-, 31-60- and 61-90-day. Skillful prediction on the SCSSM onset pentad (pentads 27–28) are found at three lead times. The prediction skills decrease with the increasing lead times. Further investigation suggests that the transitions of the large-scale circulation around the SCSSM establishment at 200-hPa and 850-hPa can be well captured at three lead times. In the SCS, the transition times of the meridional temperature difference and zonal wind shear at 1-30-day lead time coincide with those of observation. The prediction skills on the characteristic process of the SCSSM onset, including the transition from easterly to westerly, the burst of convection, and the occurrence of rainfall over the SCS, are the best at 1-30-day lead time. The interannual variations of the SCSSM onset can only be reasonably reproduced at 1-30-day lead time. In addition, accurate predictions of the eastward retreat of the West Pacific subtropical high, the establishment of the trough in the Bay of Bengal, and the cyclone in the equatorial western Pacific are critical to the predictability of SCSSM onset.

Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling heritable connective tissue disease that is difficult to treat. This study seeks to explore the clinical characteristics, clinical manifestations, treatment and prognosis of FOP to provide a clinical basis for its early diagnosis and treatment. Twenty-six children with FOP were retrospectively analyzed in terms of their onset, clinical manifestations, auxiliary examinations and treatment. Among the 26 cases, the youngest age of manifestation of mass was 8 days after birth, and the average age was 3 years and 2 months. The peak age was 2–5 years old. Inflammatory mass and toe-finger deformity are the main early clinical manifestations of the disease. These inflammatory masses often lead to hard osteogenic deposits that initially mainly involve the central axis, such as the neck (22/26, 84.6%), back (20/26, 76.9%), and head (13/26, 50%). Toe-finger deformity mainly manifests as symmetrical great toe deformity, or short and deformed thumb and little finger. The diagnosis of FOP requires typical clinical manifestations or ACVR1 gene detection. The main therapeutic drugs for FOP include glucocorticoids and non-steroidal anti-inflammatory drugs. Although not compliant with the recommended medical management of FOP, in our clinical practice children with uncontrollable illness could be treated using a variety of immunosuppressive agents in combination. FOP is a rare autosomal dominant heritable disease. The main clinical manifestations observed in this study were recurrent inflammatory mass and toe-finger deformity. If the diagnosis and treatment are not performed in a timely manner, serious complications are likely to affect the prognosis. Therefore, early diagnosis and active treatment should be performed.

In this work, high quality two-dimension (2D) SnS2 nanoflakes as visible-light responsive photocatalysts were prepared by a facile solvothermal method. And Au/SnS2 composites were fabricated by a rapid microwave-assisted process. The Au/SnS2 heterojunction showed excellent photocatalytic activities in comparison with the bare SnS2. The optimal sample named Au/SnS2-4 can degrade 92.9% MB after 1 h under visible light irradiation. The enhanced photocatalytic activities are due to the LSPR effect of Au NPs and the special structure of SnS2. The theoretical investigations showed that electrons can transfer from the SnS2 to the Au across the interface. Finally, a synergetic photocatalytic mechanism was proposed.

The aim of our study is to explore the features of clinical manifestations and genetic mutations in Chinese CAPS patients. Fifteen confirmed patients with CAPS were enrolled. The onset time ranges from 2 days after birth to 6 years and 1 month. Recurrent urticaria rash (93.3%) with fever (100%) were two dominant characteristics of these patients that were presented as either acute or chronic process. Systemic involvements were found in all patients except for one with only rash and fever. The top three symptoms were fever (100%), rash (93.3%) and myalgia (76%). Other clinical manifestations include arthritis (11 cases), lung involvement (seven cases), optical dysfunction (seven cases), nerve deafness (six cases), nervous system involvement (five cases), hepatomegaly, splenomegaly and lymphadenectasis (five cases). Also, four patients had heart involvement and one patient suffered kidney involvement. The laboratory inflammation index such as leukocyte counts, platelet counts, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), serum amyloid A (SAA) and fibrinogen (FIB) increased significantly at initial stage, but decreased after therapy. As for gene mutation detection, Twelve out of 15 patients were confirmed with mutation in NLRP3, including 11 mutant site: c1789A

Adjusting the structure of g-C3N4 to significantly enhance its photocatalytic activity has attracted considerable attention. Herein, a novel, sponge-like g-C3N4 with a porous structure is prepared from the annealing of protonated melamine under N2/H2 atmosphere (PH-CN). Compared to bulk g-C3N4 via calcination of melamine under ambient atmosphere (B-CN), PH-CN displays thinner nanosheets and a higher surface area (150.1 m2/g), which is a benefit for shortening the diffusion distance of photoinduced carriers, providing more active sites, and finally favoring the enhancement of the photocatalytic activity. Moreover, it can be clearly observed from the UV-vis spectrum that PH-CN displays better performance for harvesting light compared to B-CN. Additionally, the PH-CN is prepared with a larger band gap of 2.88 eV with the Fermi level and conduction band potential increased and valence band potential decreased, which could promote the water redox reaction. The application experiment results show that the hydrogen evolution rate on PH-CN was nearly 10 times higher than that of B-CN, which was roughly 4104 μmol h−1 g−1. The method shown in this work provides an effective approach to adjust the structure of g-C3N4 with considerable photocatalytic hydrogen evolution activity.

The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis. Cardiac involvement was also found in Blau syndrome. In addition to nerve deafness, renal involvement, osteochondroma and central nervous system involvement were also found in our patients. Therefore, Chinese children with Blau syndrome have unique gene mutations and complicated clinical phenotypes. Pathologic examination and CARD15 mutation testing should be considered for diagnosis as early as possible for suspected patients.

Hexagonal SnS2 nanosheets and Al2O3/SnS2 composites were fabricated via a one-step hydrothermal synthesis method. The investigation indicates that hexagonal SnS2 with diameters of 100–200 nm are well dispersed on the surface of Al2O3. The band gap of SnS2 after coupling with 11 wt%-Al2O3 is reduced by 0.042 eV compared with the pure SnS2. The composite with 11 wt%-Al2O3 shows the highest photocurrent density of 37 μA/cm2 at 0.49 V (vs. Ag/AgCl) under visible light (λ>420 nm), which is approximately 1.2 times that of the pure SnS2 nanosheets. Photoelectrocatalytic measurements demonstrate that an appropriate amount of Al2O3 can enhance the photoelectrocatalytic efficiency of SnS2. The 11 wt%-Al2O3/SnS2 composite (AOSS-11) can degrade 85.9% MB after 3 h under visible light illumination at an applied potential of 0.49 V (vs. Ag/AgCl). The highly effective photoelectrocatalytic activity of the Al2O3/SnS2 composite is attributed to the efficient separation of photoinduced electron-hole pairs based on the defect levels. This work may provide a new design idea for constructing the effective SnS2-based photocatalysts with other defective semiconductors.

Herein, 2D g-C3N4 nanosheets was successfully prepared by two processes: acid treatment and liquid exfoliation. The thickness of the nanosheets was nearly 4.545 nm containing ∼13 C-N layers. The acid treatment process before liquid exfoliation for bulk g-C3N4 could effectively destroy the in-plane periodicity of the aromatic systems and made the bulk easily exfoliated. This work carefully discussed the acid treatment effect for bulk by XRD patterns, nitrogen adsorption-desorption isotherm, FT-IR spectra, and UV–vis–NIR absorption spectra. Moreover, the nanosheets was fabricated and transferred onto FTO substrates by vacuum filtration self-assembled method to carefully investigate their optical, electrical, and photoelectrochemical properties. The thin film filtrated by 2 ml g-C3N4 nanosheets supernatant showed the best photocurrent response nearly 0.5 μA/cm2 and the lowest resistance of charge transfer (Rct) at the interface between FTO and electrolyte. The photocurrent response could be further effectively improved from nearly 0.5 to 1.8 μA/cm2 by the integration of CNTs to promote charge separation and transfer. Thus, the easy, safe, and indirect synthesis of 2D g-C3N4-based nanosheets thin films opens new possibilities for the fabrication of many energy-related devices.

Highly uniform and well dispersed CaF2 hollow spheres codoped with rare-earth (RE) ions Ce3+ and Yb3+ were synthesized by a facile and effective hydrothermal approach based on Ostwald ripening mechanism. The chosen phosphors were added in the SiO2 sols so as to get the anti-reflection (AR) coatings with wavelength conversion property, further to availably enhance the photovoltaic performance of solar cells. The ultraviolet (UV) light excitation induced the transition from 5D to 4F energy levels of Ce3+ with two emission bands centering at 317 nm and 336 nm. Through an efficient energy transfer process, the intense characteristic near-infrared (NIR) emission of Yb3+ peaking at 965 nm and 1026 nm attributed to the transition of 2F5/2 to 2F7/2, which is just matched the spectral response of Si band gap. In addition, all of the AR coating films containing phosphors showed an incredible transmittance performance in visible and NIR region as well as a preferable photo-electricity response. CaF2:Ce3+–Yb3+ AR coating film could effectively improve the photoelectric conversion efficiency by 0.16%, 0.50% and 1.20% compared to CaF2:Ce3+ AR coating film, SiO2 AR coating film and pure glass respectively. This work may promote a new platform and wider application of the wavelength conversion materials for silicon solar cells.

Recently, it was reported that circular RNAs (circRNAs) play the crucial role in many physiological and biological processes and can be used as biomarkers. However, the information about circRNAs in children with systemic lupus erythematosus (SLE) is limited. The aim of this study is to determine the expression of circRNAs in children with SLE and investigate the significance of circRNA for diagnosing SLE. Microarray profile of circRNAs and mRNAs was performed for identifying the changes in expression of circRNAs and mRNAs between children with SLE and healthy children. Quantitative polymerase chain reaction (qPCR) was used to confirm the results. Spearman correlation test was performed to assess the correlation between circRNAs and clinical variables. The receiver operating characteristic (ROC) curve was calculated for evaluating the diagnostic value. A comparison between the children with SLE and healthy children revealed that 348 circRNAs and 1162 mRNAs were expressed differentially. The authors constructed a complex circRNA target network consisting of 307 matched circRNA-mRNA pairs for 124 differentially expressed circRNAs (74 circRNAs were upregulated, and 50 circRNAs were downregulated) and 142 differentially expressed mRNAs (83 mRNAs were upregulated, and 59 mRNAs were downregulated) by using gene co-expression network analysis. The competing for endogenous RNA (ceRNA) network includes 42 differentially expressed circRNAs, 41 differentially expressed mRNAs, and 71 predicted miRNAs. Among these SLE patients, we detected that the hsa_circ_0021372 and hsa_circ_0075699 levels are associated with C3 and C4 levels in children with SLE. The hsa_circ_0057762 level is positively associated with the SLEDAI-2K score. The ROC curves of circRNAs showed that the levels of hsa_circ_0057762 (AUC 0.804, 95% CI 0.607–1.0, P = 0.02) and hsa_circ_0003090 (AUC 0.848, 95% CI 0.688–1.0, P = 0.008) could differentiate the patients with SLE from the healthy controls. We firstly characterized the expression profiles of circRNA and mRNA in children with SLE and propose herein their possible roles in the pathogenesis of SLE. These results provide novel insight into the mechanisms of SLE pathogenesis, and circRNAs may serve as useful biomarkers for SLE.

Long noncoding RNAs (lncRNAs) are reported to play crucial roles in several physiological and biological processes. However, knowledge of lncRNAs in children with systemic lupus erythematosus (cSLE) remains limited. We investigate lncRNA expression profiling of cSLE and explore the potential function of lncRNAs.LncRNA and mRNA microarrays were performed to identify changes in lncRNA and mRNA expression between children with SLE and paired healthy children. Quantitative polymerase chain reaction (qPCR) validated these results. A Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed to explore the potential lncRNA function.A comparison between children with SLE and paired healthy children revealed that 1042 lncRNAs and 1162 mRNAs were differentially expressed. By using gene co-expression network analysis, we constructed a complex lncRNA target network consisting of 817 matched lncRNA-mRNA pairs for 309 differentially expressed lncRNAs and 210 differentially expressed mRNAs. The results of further GO and KEGG pathway analyses indicated that lncRNAs were involved mainly in pathways with crucial pathobiological relevance in SLE.We firstly characterised the expression profiles of lncRNA and mRNA in children with SLE and propose herein their possible roles in the pathogenesis of SLE. These results provide novel insights into the mechanisms of SLE pathogenesis and may serve as diagnostic biomarkers for SLE therapy.

This paper expounds the principle and conditions of ferromagnetic resonance generation, and analyzes the ferromagnetic resonance accident of Hetan substation. The article explains the concept of “illusive grounding” caused by ferromagnetic resonance, combined with the Peterson curve. The conditions for the generation of ferromagnetic resonance are analyzed, and the common measures to eliminate ferromagnetic resonance are given.

In this article, we report a facile solvothermal route, via using green and nontoxic absolute ethyl alcohol as the solvent and surfactant. Hydrazine hydrate is a reductant. A thin flake-like InSe nanocrystals successfully synthesized by a two-step solvothermal-annealing process. In addition, we have optimized the experimental conditions, included solvothermal time, annealing temperature and annealing time to explore the change in photoelectric response and analyzes the reason of enhancement of photocurrent densities from mechanism of photocurrent generation in detail. The InSe powders have shown a high absorption coefficient in the visible range (λ > 420 nm). By optimizing preparation conditions, the as-synthesized film of 180 °C, 12 h–250 °C, 2 h shows the highest photocurrent density of 15.9 µA cm−2 at 0.5 V (versus SCE) under visible light. Photocurrent densities of thin film samples increased by approximately 2.8 times that of unoptimized nanosheets. It was shown that InSe nanosheets have superior photoelectric response characteristics under visible light illumination.

In this paper, anatase TiO2 nanotube (NT) film photoelectrodes are successfully fabricated by a simple and effective hydrothermal method. Subsequently, an aqueous-phase processing technique is adopted to construct highly dispersed ZnSe quantum dots (QDs) on Au/TiO2 NT films prepared by microwave-assisted chemical reduction, which formed composite ZnSe/Au/TiO2 NT film systems (ZATs) with excellent performance in photoelectrocatalytic (PEC) applications. The morphology and performance of as-obtained ZATs were investigated based on various characterizations. The investigation revealed that as-obtained ZATs not only greatly extend spatial separation of charges and restrain the recombination rate of photogenerated electron–hole pairs, but also improve the efficiency to use visible light and display a wide and strong absorption in the visible light region ranging from 400 nm to 800 nm. Moreover, we observe a larger fluorescence quenching of ZATs compared with that of pure TiO2 NT films and binary composites. Experimental results indicate that the photocurrent densities of pure TiO2, 0.8 Au/TiO2, 60 min ZnSe/TiO2, and ZATs are 0.020 mA cm−2, 0.032 mA cm−2, 0.037 mA cm−2 and 0.070 mA cm−2, respectively, which is approximately 2–3.5 times higher than that of pure TiO2 NT films and binary compound photoelectrodes. Additionally, experimental results suggest that the as-prepared ZATs photoelectrode has exhibited considerable stability and significantly increased PEC activity for the degradation of methylene blue (MB) in distilled water under 100 mW cm−2 xenon lamp irradiation. The degradation efficiency on MB of 45 min ZnSe/0.8 Au/TiO2 NT films approaches 91%; however, the counterpart of TiO2 NT films is less than 10%. Eventually, the mechanism for the improvement of the PEC performance of ZATs is discussed to point out that ZATs display prominent charges transport performance, and a stepwise band alignment structure is built up in its photoelectrode, which indicates that charge separation and migration across the interfaces should favor vectorial electron transfer according to the scheme of ZnSe → TiO2 → Au → Ti substrates.