[Clinical research of multisystem inflammatory syndrome in children].

Objective: To analyze the clinical characteristics of children with multisystem inflammatory syndrome (MIS-C) associated with SARS-CoV-2 in China, and to improve the understanding of MIS-C among pediatricians. Methods: Case series study.Collect the clinical characteristics, auxiliary examinations, treatment decisions, and prognosis of 64 patients with MIS-C from 9 hospitals in China from December 2022 to June 2023. Results: Among the 64 MIS-C patients, 36 were boys and 28 were girls, with an onset age being 2.8 (0.3, 14.0) years. All patients suffered from fever, elevated inflammatory indicators, and multiple system involvement. Forty-three patients (67%) were involved in more than 3 systems simultaneously, including skin mucosa 60 cases (94%), blood system 52 cases (89%), circulatory system 54 cases (84%), digestive system 48 cases (75%), and nervous system 24 cases (37%). Common mucocutaneous lesions included rash 54 cases (84%) and conjunctival congestion and (or) lip flushing 45 cases (70%). Hematological abnormalities consisted of coagulation dysfunction 48 cases (75%), thrombocytopenia 9 cases (14%), and lymphopenia 8 cases (13%). Cardiovascular lesions mainly affected cardiac function, of which 11 patients (17%) were accompanied by hypotension or shock, and 7 patients (12%) had coronary artery dilatation.Thirty-six patients (56%) had gastrointestinal symptoms, 23 patients (36%) had neurological symptoms. Forty-five patients (70%) received the initial treatment of intravenous immunoglobulin in combination with glucocorticoids, 5 patients (8%) received the methylprednisolone pulse therapy and 2 patients (3%) treated with biological agents, 7 patients with coronary artery dilation all returned to normal within 6 months. Conclusions: MIS-C patients are mainly characterized by fever, high inflammatory response, and multiple organ damage. The preferred initial treatment is intravenous immunoglobulin combined with glucocorticoids. All patients have a good prognosis.

[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency].

Objective: To explore the clinical phenotype, immunological features, pathogenesis and gene variation of a case with A20 haploinsufficiency (HA20). Methods: A patient diagnosed with tumor necrosis factor α-induced protein 3 (TNFAIP3) mutated HA20 was admitted into Shenzhen Children's Hospital in May,2019.The clinical data was analyzed. Flow cytometry was used to detect the patient's peripheral blood lymphocyte subsets, and also, the percentage of follicular helper T cell (TFH) cells in the patient and thirteen healthy controls. After the construction of empty vector, wild-type and mutant plasmid vectors, a wild-type or mutant overexpression system of the TNFAIP3 gene was established in 293T cells and Hela cells. Then, the expression level of A20 in 293T cells and the expression of inhibitor K binding α (IKBα) in green fluorescent protein (GFP)+Hela cells before and after tumor necrosis factor α (TNF-α) stimulation were measured, to verify the pathogenicity of this variation. Results: A 5 years and 11 months old boy, presented with recurrent oral ulcer, abdominal pain, joint swelling and arthralgia. Oral ulcer, chronic skin rashes, knee joint swelling were observed. The levels of inflammatory markers were increased. Colonoscopy showed congestion of mucosa and multiple ulcers in terminal ileum and ileocecus. The absolute number of naive B cells was 124×10(6) cells/L (reference range 147×10(6)-431×10(6) cells/L), accounting for 0.430 of the total B cells (reference range 0.484-0.758). Compared to healthy controls (0.016-0.071), the percentage of TFH cells in CD4(+)T cells was much lower (0.008).A heterozygous mutation of TNFAIP3 gene (c.909_913 del, p.L303fs) was identified by genetic analysis. In vitro study showed that truncated A20 protein was expressed in TNFAIP3 mutant overexpressed 293T cells, which verified the pathogenicity of this variation. Besides, after TNF-α stimulation, the degradation rate of IkBα protein in mutant overexpressed Hela cells (35%) was between the other two groups (15% in the wild-type group and 57% in the non-loaded group). Conclusions: This case with HA20 due to a de novo TNFAIP3 gene mutation presents with early onset Behcet-like autoinflammatory syndrome. This variation leads to expression of truncated A20 protein, enhanced degradation of IkBα, and further activation of nuclear factor κB signaling pathway.

Urinalysis in patients with neuromyelitis optica spectrum disorder.

BACKGROUND AND PURPOSE: Increasing evidence has demonstrated that aquaporin-4 (AQP4) immunoglobulin G causes damage to the kidney in neuromyelitis optica spectrum disorder (NMOSD). However, changes in urinalysis in NMOSD have not been investigated thus far. Our objective was to evaluate the changes in urinalysis in NMOSD patients. METHODS: Case data were collected from 44 patients with AQP4 antibody-positive NMOSD, 53 patients with multiple sclerosis (MS) and 79 age- and sex-matched healthy controls. Analyses of early morning urine and 24-h urine samples comparing NMOSD with MS patients were conducted. RESULTS: In the acute phase, urine pH levels (P < 0.001) and urine specific gravity levels (P < 0.001) from NMOSD patients were significantly higher and lower, respectively, than for MS patients. 24-h urine sodium and 24-h urine volume from NMOSD patients were significantly higher than for MS patients (both P = 0.001). A 24-h urine volume higher than 2500 ml (odds ratio 11.7, 95% confidence interval 1.863-73.066) and a 24-h urine sodium higher than 200 mmol (odds ratio 16.0, 95% confidence interval 2.122-120.648) are more likely to occur in NMOSD patients in the acute phase than in MS patients. CONCLUSIONS: The urinalysis results were significantly different between NMOSD patients and MS patients. The pathophysiological changes in AQP4 antibody-positive NMOSD patients were not limited to the central nervous system.

Outcomes of Controlled Donation After Cardiac Death Compared With Donation After Brain Death in Liver Transplantation: A Systematic Review and Meta-analysis.

BACKGROUND: Controlled donation after cardiac death (CDCD) is increasingly common for liver transplantation due to donor shortage. However, the outcomes, in terms of grafts and recipients, remain unclear. The current study is a systematic review and meta-analysis that compared CDCD with donation after brain death (DBD). METHODS: We conducted an electronic search of MEDLINE, EMBASE, and the Cochrane Database (from January 2007 to May 2017). Studies reporting Maastricht category III or IV CDCD liver transplantation were screened for inclusion. We appraised studies using the Newcastle-Ottawa scale and meta-analyzed using a fixed or random effects model. RESULTS: A total of 21 studies, with 12,035 patients, were included in data analysis. CDCD did not differ from DBD in patient survival (hazard ration: 1.20; 95% confidence interval [CI]: 0.98 to 1.47; P = .07), graft survival (hazard ratio: 1.24; 95% CI: 0.99 to 1.56; P = .06), primary nonfunction (odds ratio [OR]: 1.74; 95% CI: 1.00 to 3.03; P = .05), hepatic artery thrombosis (OR: 1.17; 95% CI: 0.78 to 1.74; P = .45). However, CDCD was associated with biliary complications (OR: 2.48; 95% CI: 2.05 to 3.00), retransplantation (OR: 2.54; 95% CI: 1.99 to 3.26), and peak alanine aminotransferase (weighted mean difference: 330.88; 95% CI: 259.88 to 401.87). A subgroup analysis that included only hepatitis C virus (HCV)-positive recipients showed no significant difference between CDCD and DBD in biliary complications (P = .16), retransplantion (P = .15), HCV recurrence (P = .20), and peak alanine aminotransferase (P = .06). CONCLUSIONS: CDCD transplantation is the most viable alternative to DBD transplantation in the current critical shortage of liver organs. HCV infection may not be the inferior factor of postoperative outcomes and survival.

[Research Progress of MALDI-TOF-IMS in Biomedicine and Its Application Prospect in Forensic Sciences].

Matrix-assisted laser desorption/ionization time-of-flight imaging mass spectrometry （MALDI-TOF-IMS） can analysis unknown compounds in sections and obtain molecule imaging by scanning biological tissue sections, which has become a powerful tool for the research of biomarker, lipid distribution and drug metabolism, etc. This article reviews the application of this technique in protein identification, clinical application, drug discovery, lipid research and brain injury.

[Analysis of Differentially Expressed Proteins Distribution in the Rat Brains with DAI by MALDI-TOF-IMS].

OBJECTIVES: To establish the imaging mass spectrometry for analysis of differentially expressed proteins distribution in the rat brains with diffuse axonal injury （DAI） based on matrix assisted laser desorption/ionization-time of flight imaging mass spectrometry （MALDI-TOF-IMS）. METHODS: MALDI-TOF-IMS scanning were conducted on the brains of DAI group and control group in the m/z range of 1 000 to 20 000 using AutoflexⅢ MALDI-TOF spectrometer. ClinProTool 2.2 software was used for statistical analysis on the data of two groups, and then the differentially expressed proteins were picked out to conduct imaging. The distribution of the proteins with different m/z in the rat brains was observed. RESULTS: Five proteins with different m/z, including 4 963, 5 634, 6 253, 6 714 and 7 532, differentially expressed in the rat brains with DAI. CONCLUSIONS: MALDI-TOF-IMS can be used for studying the differentially expressed proteins in rat brains with DAI and the analysis method is established for exploring the distribution of differentially expressed proteins in the rat brains with DAI using imaging mass spectrometry.