Percutaneous vertebroplasty in the treatment of malignant vertebral compression fractures with epidural involvement

Purpose: To evaluate the safety and the clinical efficacy of percutaneous vertebroplasty(PVP) in treating malignant spinal tumors and malignant vertebral compression fractures with epidural involvement. Materials and methods: 43 patients with spinal metastatic tumors and malignant vertebral compression fractures with epidural involvement were treated using PVP. American Spinal Injury Association(ASIA) impairment scale results at presentation were used to divide patients into 2 groups. Patients in group A had no symptoms of neurological compression(n = 25); and patients in group B had symptoms of neurological compression(n = 28). A 13 G bone puncture needle was placed across the pedicle of the fractured vertebra, and polymethyl methacrylate(PMMA) was injected into the fractured vertebral body under fluoroscopic control. Patients were seen in follow-up at 1, 3, and 6 months after the procedure and every six months thereafter. Results: PVP was technically successful and well-tolerated in all patients. Clinical assessment at the final follow-up found complete pain relief(n = 19) or good pain relief(n = 14) in 33 patients(62.3%, 95% CI: 49%, 76%). ASIA impairment scale assessment at the final follow-up demonstrated symptoms of neurologic compression in 31 patients and no symptoms of neurologic compression in 22 patients. Symptoms of neurologic compression were found in five group A patients and eight group B patients. Conclusions: PVP was a safe and moderately effective procedure in the treatment of malignant vertebral compression fractures with epidural involvement.

Characterization of microbiota in systemic-onset juvenile idiopathic arthritis with different disease severities

BACKGROUND Systemic-onset juvenile idiopathic arthritis (SoJIA) is one of most serious subtypes of juvenile idiopathic arthritis. Although the pathogenesis of SoJIA remains unclear, several studies have suggested a correlation between gut dysbiosis and JIA. Further understanding of the intestinal microbiome may help to establish alternative ways to treat, or even prevent, the disease. AIM To explore alterations in fecal microbiota profiles in SoJIA patients and to evaluate the correlations between microbiota and clinical parameters. METHODS We conducted an observational single-center study at the Pediatric Department of Peking Union Medical College Hospital. Children who were diagnosed with SoJIA at our institution and followed for a minimum period of six months after diagnosis were recruited for the study. Healthy children were recruited as a control group (HS group) during the same period. Clinical data and stool samples were collected from SoJIA patients when they visited the hospital. RESULTS The SoJIA group included 17 active and 15 inactive consecutively recruited children;the control group consisted of 32 children. Firmicutes and Bacteroidetes were the two most abundant phyla among the total sample of SoJIA children and controls. There was a significant difference among the three groups in observed species, which was the highest in the Active-SoJIA group, followed by the Inactive-SoJIA group and then HS group (Active-SoJIA vs HS: P = 0.000;and Inactive-SoJIA vs HS: P = 0.005). We observed a lower Firmicutes/Bacteroidetes ratio in SoJIA patients (3.28 ± 4.47 in Active-SoJIA, 5.36 ± 8.39 in Inactive-SoJIA,and 5.67 ± 3.92 in HS). We also observed decreased abundances of Ruminococcaceae (14.9% in Active-SoJIA, 17.3% in Inactive-SoJIA, and 22.8% in HS;Active-SoJIA vs HS: P = 0.005) and Faecalibacterium (5.1% in Active-SoJIA, 9.9% in Inactive-SoJIA, and 13.0% in HS;Active-SoJIA vs HS: P = 0.000) in SoJIA compared with HS. By contrast, the abundance of Bacteroidaceae was the highest in the Active-SoJIA group, followed by the Inactive-SoJIA and HS groups (16.5% in Active-SoJIA, 12.8% in Inactive-SoJIA, and 9.7% in HS;Active-SoJIA vs HS: P = 0.03). The Spearman correlation analysis revealed a negative correlation between Proteobacteria or Enterobacteriaceae and juvenile arthritis disease activity score on 27 joints (JADAS-27). CONCLUSION The composition of the intestinal microbiota is different in SoJIA patients compared with healthy children. The dysbiosis presents partial restoration in inactive status patients.

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population:a retrospective genotype-phenotype analysis of 105 patients

Background Progressive pseudorheumatoid dysplasia(PPRD)is a rare genetic disease with autosomal recessive inherit-ance.There was a lack of genotype-phenotype correlation data from the Chinese population.This study aimed to identify the genotype and phenotype characteristics of Chinese PPRD patients and to conduct a genotype-phenotype analysis of Chinese PPRD patients.Methods Genetic analysis was performed for suspected PPRD patients from Peking Union Medical College Hospital.Medi-cal records were collected from the electronic medical record system and patient-held portable health records.Published Chinese PPRD cases were gathered from both international and Chinese local databases.We collected demographic infor-mation,genetic variants,clinical manifestations,and imaging characteristics for further analysis.Results We included 105 Chinese PPRD patients in the current study.Thirty-three variants,including nine novels and five hotspot variants,were identified,with 26/33(79%)variants exclusively seen in the Chinese population.Chinese PPRD patients share a phenotype similar to that in international reports.Joint involvement may progress with age(R2=0.2541).Long bone shortening and severe deformities occur in three patients with biallelic null variants,of which at least one vari-ant is located in exon 2.Among hotspot variants,c.624dupA(p.C209Mfs*21)were associated with later onset and more involved joints.Elbow joints were more likely to be affected in patients carrying c.624dupA(p.C209Mfs*21)and c.866dupA(p.S209Efs*13).Shoulder joints are more likely to be involved in patients with biallelic null variants(P=0.027).Conclusions Chinese PPRD patients share a unique mutation spectrum.Among the five hotspot variants,c.624dupA is associated with later onset of disease,more extensive joint involvement,and a tendency to affect elbow joints.Biallelic null variants with at least one variant in exon 2 could be a likely cause of long bone shortening and severe deformities.

Toward a better understanding of typeⅠinterferonopathies:a brief summary,update and beyond

Backgrounds TypeⅠinterferonopathy is a group of autoinflammatory disorders associated with prominent enhanced typeⅠinterferon signaling.The mechanisms are complex,and the clinical phenotypes are diverse.This review briefly summarized the recent progresses of typeⅠinterferonopathy focusing on the clinical and molecular features,pathogeneses,diagnoses and potential therapies.Data sources Original research articles and literature reviews published in PubMed-indexed journals.Results TypeⅠinterferonopathies include Aicardi-Goutières syndrome,spondyloenchondro-dysplasia with immune dysregulation,stimulator of interferon genes-associated vasculopathy with onset in infancy,X-linked reticulate pigmentary disorder,ubiquitin-specific peptidase 18 deficiency,chronic atypical neutrophilic dermatitis with lipodystrophy,and Singleton-Merten syndrome originally.Other disorders including interferon-stimulated gene 15 deficiency and DNAseⅡdeficiency are believed to be interferonopathies as well.Intracranial calcification,skin vasculopathy,interstitial lung disease,failure to thrive,skeletal development problems and autoimmune features are common.Abnormal responses to nucleic acid stimuli and defective regulation of protein degradation are main mechanisms in disease pathogenesis.First generation Janus kinase inhibitors including baricitinib,tofacitinib and ruxolitinib are useful for disease control.Reverse transcriptase inhibitors seem to be another option for Aicardi-Goutières syndrome.Conclusions Tremendous progress has been made for the discovery of typeⅠinterferonopathies and responsible genes.Janus kinase inhibitors and other agents have potential therapeutic roles.Future basic,translational and clinical studies towards disease monitoring and powerful therapies are warranted.

The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review

Background The nucleotide-binding oligomerization domain-like receptor protein 12(NLRP12)-autoinflammatory disorder(NLRP12-AD)is a rare autoinflammatory disease characterized by recurrent fever,rash as well as musculoskeletal symptoms,which is rarely reported in Asian populations.Methods Three cases of NLRP12-AD presented to our hospital were studied after parental consents were obtained.Clinical presentations were recorded on a standardized case report form.Mutations of NLRP12 were detected by primary immunodeficiency disease panels and further examined by Sanger sequencing.PubMed literature search for relevant studies of systemic autoinflammatory disorders,especially NLRP12-AD between January,2000 and January,2019 was carried and the clinical data were summarized.Comparisons were made between groups in terms of onset age and of ethnicity.Results All our patients presented with fever,rash and arthritis/arthralgia,and sensorineural as well as sensorineural deafness(1/3),uveitis(1/3),abdominal pain(1/3),and myalgia(1/3).Two novel mutation variations,p.W581X and p.L558R,are reported here.In addition,we also found that two patients inherited the mutated alleles from their healthy parents,and this may be evidence of haploinsutficiency.Conclusions Although the genotypes are similar,the clinical manifestations between Chinese patients and Western patients vary thus highlighting the possible influence of ethnic and environmental factors.On the other hand,some genetic mutations may lead to specific phenotype,as we have found a high prevalence of sensorineural hearing loss among p.R284X patients.

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China

Background Aicardi-Goutieres syndrome(AGS)is an inflammatory disorder belonging to the type I interferonopathy group.The clinical diagnosis of AGS is difficult,which can lead to a high mortality rate.Overall,there is a lack of large-sample research data on AGS in China.We aim to summarize the clinical characteristics of Chinese patients with AGS and provide clues for clinical diagnostic.Methods The genetic and clinical features of Chinese patients with AGS were collected.Real-time polymerase chain reac-tion was used to detect expression of interferon-stimulated genes(ISGs).Results A total of 23 cases were included,consisting of 7 cases of AGS1 with three prime repair exonuclease 1 mutations,3 of AGS2 with ribonuclease H2 subunit B(RNASEH2B)mutations,3 of ASG3 with RNASEH2C,1 of AGS4 with RNASEH2A mutations,2 of AGS6 with adenosine deaminase acting on RNA 1 mutations,and 7 of AGS7 with interferon induced with helicase C domain 1 mutations.Onset before the age of 3 years occurred in 82.6%.Neurologic involvement was most common(100%),including signs of intracranial calcification which mainly distributed in the bilateral basal ganglia,leukodystrophy,dystonia,epilepsy,brain atrophy and dysphagia.Intellectual disability,language disability and motor skill impairment were also observed.Skin manifestations(60.87%)were dominated by a chilblain-like rash.Features such as microcephaly(47.62%),short stature(52.38%),liver dysfunction(42.11%),thyroid dysfunction(46.15%),positive autoimmune antibod-ies(66.67%),and elevated erythrocyte sedimentation rate(53.85%)were also found.The phenotypes of 2 cases fulfilled the diagnostic criteria for systemic lupus erythaematosus(SLE).One death was recorded.ISGs expression were elevated.Conclusions AGS is a systemic disease that causes sequelae and mortality.A diagnosis of AGS should be considered for patients who have an early onset of chilblain-like rash,intracranial calcification,leukodystrophy,dystonia,developmental delay,positive autoimmune antibodies,and elevated ISGs,and for those diagnosed with SLE with atypical presentation who are nonresponsive to conventional treatments.Comprehensive assessment of vital organ function and symptomatic treatment are important.

Keeping up with the progress in the diagnosis and management of pediatric rheumatic diseases

Rheumatic diseases are a group of challenging but fascinating disorders affecting multiple organ systems,and can be trickier in the pediatric population.Much have progressed in this field overtime,as such,the latest knowledge was summarized and presented in this issue,including the basic disease pathogeneses,diagnostic and evaluation tools,and management experiences.