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Summary: Antinuclear antibody (ANA) can be positive in children with primary immune thrombocytopenia (ITP), but the effect of ANA titre and its variation on outcomes of children with primary ITP remains unclear. Here, we conducted a single‐centre retrospective cohort study of children with primary ITP at the Peking Union Medical College Hospital in China. A total of 324 children with primary ITP included in this study were followed for a median time of 25 months. In this cohort, 39.2% had an ANA titre of 1:160 or higher. Results from a generalized estimating equation model revealed that patients with higher ANA titres had lower platelet counts at onset but a higher recovery rate of subsequent platelet counts. Results from Cox regression models adjusted for potential confounders revealed that patients with ANA titres of 1:160 or more were more likely to develop to autoimmune disease (AID) than those without, and the risk of AID development increased with the rise of ANA titres (p value for trend less than 0.001). These data highlight the predictive value of ANA titre for platelet counts and the risk of AID development in children with primary ITP. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-Goutières syndrome (AGS), and spondyloenchondrodysplasia with immune dysregulation (SPENCD). Methods: A total of 6 patients were considered in this study: 2 patients with SAVI, 1 patient with AGS1, 1 patient with AGS7, and 2 patients with SPENCD. Clinical manifestations, laboratory investigations, radiology examinations, treatment, and outcomes were collected between November 2017 and November 2021 in Peking Union Medical College Hospital. The disease score for patients with SAVI and AGS scale for patients with AGS were documented. The expression of 6 interferon-stimulated genes (ISGs) was assessed by real-time PCR. Results: Three patients (1 patient with SAVI, 2 patients with AGS) were treated with ruxolitinib and 3 patients (1 patient with SAVI, 2 patients with SPENCD) were treated with tofacitinib. The mean duration of the treatment was 2.5 years (1.25–4 years). Upon treatment, cutaneous lesions and febrile attacks subsided in all affected patients. Two patients discontinued the corticoid treatment. Two patients with SAVI showed an improvement in the disease scores (p < 0.05). The erythrocyte sedimentation rate normalized in 2 patients with AGS. The interferon score (IS) was remarkably decreased in 2 patients with SPENCD (p < 0.01). Catch-ups with growth and weight gain were observed in 3 and 2 patients, respectively. Lung lesions improved in 1 patient with SAVI and remained stable in 3 patients. Lymphopenia was found in 3 patients during the treatment without severe infections. Conclusion: The JAK inhibitors baricitinib and tofacitinib are promising therapeutic agents for patients with SAVI, AGS, and SPENCD, especially for the improvement of cutaneous lesions and febrile attacks. However, further cohort studies are needed to assess the efficacy and safety. [ABSTRACT FROM AUTHOR]

Background: Systemic juvenile idiopathic arthritis (sJIA) has many clinical features overlapping with familial Mediterranean fever (FMF), which is caused by mutations in MEFV gene. And FMF patients were easily misdiagnosed as sJIA in China. So we speculate that MEFV is critical genetic background for sJIA and influences patients' severity. In this study, we aim to figure out whether MEFV mutations are risk factor for the occurrence of sJIA and to study the association of MEFV mutations with disease severity of sJIA patients. Methods: The present study includes 57 sJIA children and 2573 healthy controls. Odd ratio with 95% confidence interval based on allelic frequency of MEFV mutations or variants was used to evaluate their contribution to sJIA susceptibility. Meta-analysis was then performed to reach comprehensive conclusion. All included sJIA patients were grouped by presence and number of MEFV mutations. Clinical data and indicators of disease severity were compared among different groups. Multiple linear regression method was used to find out whether the number of MEFV variants is associated with the severity of sJIA. Kaplan-Meier curves and log rank test were used to estimate the probability of the first relapse. Results: The MEFV mutations of our subjects predominantly existed in exons 2 and 3. No significant difference was found in allelic frequency between sJIA children and healthy controls. Meta-analysis demonstrated that p.M694V/I was a risk factor for sJIA (pooled OR: 7.13, 95% CI: 3.01–16.89). The relative period of activity was significantly lower in the one mutation group than those with more than one mutation (p = 0.0194). However, no relevance was found in multiple linear regression models. Conclusions: The mutation p.M694V/I in MEFV might be a risk factor for sJIA. SJIA patients carrying more than one heterozygous mutation in MEFV tend to be more severe than those containing only one, but studies in other cohort of patients need to be performed to validate it. [ABSTRACT FROM AUTHOR]

Two springs (Cuihua Spring, Shuiqiuchi Spring) in Cuihua Mountain of the Qinling Mountains were observed and sampled monthly during 2004 and 2005 to trace their physical properties and chemical compositions with seasons. Although both pH values and cation (Ca2+, Mg2+, K+, and Na+) contents of Cuihua Spring are higher than those of Shuiqiuchi Spring, seasonal variations in both springs are obvious. The pH values of both spring waters are between 5.69 and 6.98, lower than that of rainwater during summer and autumn. From January to November, the pH values of both springs similarly vary from high to low and then to high again. Variations in electric conductivities of two spring waters are contrary, although their electric conductivities are positively correlative with the cation content respectively. This can be attributed to different water sources of the two springs or different acidic rocks they passed. The contents of HCO3 –, Ca2+, Mg2+, K+ are low, indicating a low silicate weathering that the strata in this district are mainly composed of granite and schist of quartz and mica. Differing from change in spring water in karst regions of South China where abundant precipitation and dilution of rainwater cause low pH and electric conductivity in summer and autumn, the seasonal variations in the pH values and the electric conductivities of two springs in Qinling Mountains are attributed to seasonal changes in CO+ are low, indicating a low silicate weathering that the strata in this district are mainly composed of granite and schist of quartz and mica. Differing from change in spring water in karst regions of South China where abundant precipitation and dilution of rainwater cause low pH and electric conductivity in summer and autumn, the seasonal variations in the pH values and the electric conductivities of two springs in Qinling Mountains are attributed to seasonal changes in CO2 produced by microorganisms' activity in soil within respective year, rather than rainfall. The microorganisms' activity in soil produces more CO2 during summer and autumn. Therefore, the water nature of springs in silicate regions chiefly reflects the seasonal changes of CO2 produced by the microorganisms in soil. [ABSTRACT FROM AUTHOR]

Abstract: This article systematically investigated permeability, porosity, carbonate mass percentage, and magnetic susceptibility of representative loess–palaeosol layers (from L1 to S4) on the Chinese Loess Plateau, based on analysing a sequence on the Luochuan Yuan (tableland) as a case study. The results of in situ permeability measurements illustrate that average infiltration rate of loess layers is higher than that of palaeosol layers, and that average time for the loess layers to reach quasi-steady infiltration is longer than that of palaeosol layers. In addition, loess layers have higher porosity than palaeosols on average, and it is suggested as a major reason why the loess layers have a higher permeability on average, despite complex nature of different types of the interspaces. Higher porosity (i.e. more interspaces for storing moisture/water) of the loess layers is largely determined by lower intensity of pedogenesis of loess, which is in turn ascribed to the colder/drier palaeoclimatic conditions. The difference of permeability between loess and palaeosol layers facilitates the loess units more likely to be aquifers. In this regard, the Quaternary climatic change theory can make a contribution to hydrogeology of the Chinese Loess Plateau, and the regional climatostratigraphy can be regarded as a baseline for local water resource positioning and revegetation in such a semi-arid area. [Copyright &y& Elsevier]

Objective: Monogenic autoinflammatory diseases (AIDs) are inborn disorders caused by innate immunity dysregulation and characterized by robust autoinflammation. We aimed to present the phenotypes and genotypes of Chinese pediatric monogenic AID patients. Methods: A total of 288 pediatric patients clinically suspected to have monogenic AIDs at the Department of Pediatrics of Peking Union Medical College Hospital between November 2008 and May 2019 were genotyped by Sanger sequencing, and/or gene panel sequencing and/or whole exome sequencing. Final definite diagnoses were made when the phenotypes and genotypes were mutually verified. Results: Of the 288 patients, 79 (27.4%) were diagnosed with 18 kinds of monogenic AIDs, including 33 patients with inflammasomopathies, 38 patients with non-inflammasome related conditions, and eight patients with type 1 interferonopathies. Main clinical features were skin disorders (76%), musculoskeletal problems (66%), fever (62%), growth retardation (33%), gastrointestinal tract abnormalities (25%), central nervous system abnormalities (15%), eye disorders (16%), ear problems (9%), and cardiopulmonary disorders (8%). The causative genes were ACP5, ADA2, ADAR1, IFIH1, LPIN2, MEFV, MVK, NLRC4, NLRP3, NLRP12, NOD2, PLCG2, PSMB8, PSTPIP1, TMEM173, TNFAIP3, TNFRSF1A , and TREX1 . Conclusions: The present study summarized both clinical and genetic characteristics of 18 kinds of monogenic AIDs found in the largest pediatric AID center over the past decade, with fever, skin problems, and musculoskeletal system disorders being the most prevalent clinical features. Many of the mutations were newly discovered. This is by far the first and largest monogenic AID report in Chinese pediatric population and also a catalog of the phenotypic and genotypic features among these patients., (Copyright © 2020 Wang, Yu, Gou, Zhong, Li, Ma, Wang, Zhou, Ru, Sun, Wei, Dong and Song.)