Search

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.

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.

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.

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.