BACKGROUND: Generalized pustular psoriasis (GPP), a rare and recurrent autoinflammatory disease, imposes a substantial burden on patients and society. Awareness of GPP in China remains limited. METHODS: This cross-sectional survey, conducted between September 2021 and May 2023 across 14 hospitals in China, included GPP patients of all ages and disease phases. Data collected encompassed demographics, clinical characteristics, economic impact, disease severity, quality of life, and treatment-related complications. Risk factors for GPP recurrence were analyzed. RESULTS: Among 127 patients (female/male ratio = 1.35:1), the mean age of disease onset was 25 years (1st quartile [Q1]-3rd quartile [Q3]: 11-44 years); 29.2% had experienced GPP for more than 10 years. Recurrence occurred in 75.6% of patients, and nearly half reported no identifiable triggers. Younger age at disease onset ( P  = 0.021) and transitioning to plaque psoriasis ( P  = 0.022) were associated with higher recurrence rates. The median diagnostic delay was 8 months (Q1-Q3: 2-41 months), and 32.3% of patients reported misdiagnoses. Comorbidities were present in 53.5% of patients, whereas 51.1% experienced systemic complications during treatment. Depression and anxiety affected 84.5% and 95.6% of patients, respectively. During GPP flares, the median Dermatology Life Quality Index score was 19.0 (Q1-Q3: 13.0-23.5). This score showed significant differences between patients with and without systemic symptoms; it demonstrated correlations with both depression and anxiety scores. Treatment costs caused financial hardship in 55.9% of patients, underscoring the burden associated with GPP. CONCLUSIONS The substantial disease and economic burdens among Chinese GPP patients warrant increased attention. Patients with early onset disease and those transitioning to plaque psoriasis require targeted interventions to mitigate the high recurrence risk.
Humans ; Male ; Female ; Psoriasis/pathology* ; Adult ; Cross-Sectional Studies ; Adolescent ; Child ; Young Adult ; Quality of Life ; Middle Aged ; China/epidemiology* ; Recurrence ; Risk Factors ; Surveys and Questionnaires ; East Asian People

Objective:To investigate the clinical features and characteristics of gene mutation of patients with Hereditary spherocytosis(HS) and report novel mutations found in this work.Method:We reviewed the literatures for the clinical and genetic features of the 35 patients (24 boys and 11 girls, median age 7.8 years) with HS admitted to Wuhan Children′s Hospital from June 2017 to January 2023. Analyze clinical manifestations the blood routine, and biochemical laboratory results, and use Next-generation sequencing (NGS) to detect pathogenic mutation. Mann-Whitney U testing method was used to analyze the hematological parameters between different genotypes. Results:All of the patients showed clinical manifestations of anemia; 33 children had jaundice, 28 children had splenomegaly, and 11 children had gallstones. Gene mutations were detected in all 35 patients. 17 patients carried ANK1 variants, 14 patients harbored SPTB variants, 1 patient carried SPTA1variants, 1 patient carried SLC4A1 variants, and 2 patients harbored both ANK1 and SPTB variants. A total of 39 heterozygous mutations were found, among which 27 were pathogenic, 6 was likely pathogenic and 6 were of unknown significance according to the ACMG guideline; Among 39 mutations identified, 31 were novel. There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the ANK1 mutant group and the SPTB group (all P>0.05). Conclusion:SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hubei, China, and there was no significant difference in phenotype between ANK1 and SPTB genotype. We found 31 unreported novel variants and expanded the spectrum of variation in this type of disease .

Objective:To investigate the mechanism of Candida albicans Int1 in regulating septin organization. Methods:A series of full-length and truncated fragments of Int1 were constructed and fused with green fluorescent protein (GFP). The intracellular localization of the fusion proteins was observed under a fluorescence microscope. The region in Int1 that was required for bud neck localization was identified. Full-length and fragments of Int1 were overexpressed in the yeast Saccharomyces cerevisiae and the changes in cell growth, cell morphology and septin organization were investigated to determine the functional region in Int1 that mediated the interaction with septin. Moreover, the co-localization of the region and septin was analyzed. Results:The full-length Int1 consisted of 1 661 amino acid residues. A middle region of 209 amino acid residues, Int1-M4 (739-947 aa), that could be localized at the bud neck during both small and large bud periods was identified. Overexpression of Int1-M4 led to significant growth defects, elongated bud and disorganized septin. In the cells with elongated bud, Int1-M4 and septin with abnormal structures could be co-localized.Conclusions:Int1-M4 (739-947 aa), the middle region of Int1 containing 209 amino acid residues, mediated the bud neck localization and the interaction with septin, playing an important role in regulating septin organization.

Objective:To validate the accuracy of physical model of in-vivo 3D dose verification based on electronic portal imaging device (EPID) using the phantom and preliminarily analyze the clinical application.Methods:Two phantoms (uniform and non-uniform phantoms) were involved in this study. The system of in-vivo 3D dose verification based on EPID was employed to acquire the images of square fields (SF) and combined fields of intensity-modulated radiotherapy (CFIMRT). The physical model of different media was constructed using the system. The factor of γ passing rate under different dose/distance criteria was statistically compared. For clinical cases, the dose-volume histograms were adopted to analyze the dose distribution of target volume and organs at risk (OARs).Results:For the SF in the uniform phantom, the average γ passing rate (3%/3 mm) was (97.49±1.11)%, and (94.06±5.11)% for the SF in the non-uniform phantom ( P>0.05). No statistical significance was noted in IMRT using different delivery methods (all P>0.05). For clinical cases, the average γ passing rate (3%/2 mm) was (97.96±1.84)% in the pre-treatment dose verification, and (90.51±6.96)%(3%/3 mm) for the in-vivo 3D dose verification. For clinical cases, significant dose deviation was observed in OARs with small size and large volume changes. Conclusion:The in-vivo 3D dose verification model based on EPID can be effectively applied in inter-fraction dose verification, providing technical support for adaptive radiotherapy in clinical practice.

Objective:This study retrospectively analyzed an outbreak of dengue fever in Puyang of Henan province in 2019, in order to find the sources of infection.Methods:Dengue virus IgM/IgG and NS1 antigen were tested by colloidal gold method. E gene was amplified by PCR. MegaX was used for sequences alignment to construct evolutionary distance trees.Results:After clinical and laboratory confirmation, there were 81 cases of dengue fever, 17 of which were imported case who were local farmers and worked in Combadia and Thailand, and 64 of which were indigenous cases. The E gene alignment results showed that the pathogen of this epidemic was Vietnamese 1 and highly homologous with the Vietnamese strain. After the local outbreak, dengue virus E gene developed a nucleotide site mutation which can be steadily transmission.Conclusion:The dengue fever outbreak in Puyang was a local outbreak caused by dengue virus type 1, which was associated with imported cases. Gene sequencing showed that the imported pathogen had a relatively stable and transmissible nucleotide mutation after the local epidemic.

Objective:This study retrospectively analyzed an outbreak of dengue fever in Puyang of Henan province in 2019, in order to find the sources of infection.Methods:Dengue virus IgM/IgG and NS1 antigen were tested by colloidal gold method. E gene was amplified by PCR. MegaX was used for sequences alignment to construct evolutionary distance trees.Results:After clinical and laboratory confirmation, there were 81 cases of dengue fever, 17 of which were imported case who were local farmers and worked in Combadia and Thailand, and 64 of which were indigenous cases. The E gene alignment results showed that the pathogen of this epidemic was Vietnamese 1 and highly homologous with the Vietnamese strain. After the local outbreak, dengue virus E gene developed a nucleotide site mutation which can be steadily transmission.Conclusion:The dengue fever outbreak in Puyang was a local outbreak caused by dengue virus type 1, which was associated with imported cases. Gene sequencing showed that the imported pathogen had a relatively stable and transmissible nucleotide mutation after the local epidemic.

Objective To investigate the clinical effect of anterior controllable antedisplacement and fusion (ACAF) for the treatment of ossification of the posterior longitudinal ligament (OPLL) of the cervical spine.Methods The data of 45 cases with cervical posterior longitudinal ligament ossification treated by ACAF from March 2017 to October 2017 were retrospectively analyzed,including 25 males and 20 females,age 45-68 years,average 57.5 years.There were 18 cases involving C3 vertebral body,30 cases involving C4 vertebral body,40 cases involving C5 vertebral body,34 cases involving C6 vertebral body,and 7 cases involving C7 vertebral body.The function of the neural function was evaluated by the Japanese Orthopaedic Association (JOA) scoring system at preoperation and latest follow-up.The curvature of the cervical spine was measured on the lateral X-ray film of the cervical spine,the maximum occupying ratio of the spinal canal was measured on the cross section of the CT scan,and compression of the cervical spinal cord was evaluated by the cervical MRI.Results Patients were followed up for 3 to 6 months (average,3.9 months).The improvement of neurological function was obtained in all the patients.The JOA score improvement rate at the latest follow-up was 71.3％±9.6％.The cervical lordosis was improved from preoperative 4.5°±3.8° to 10.3°±4.8° at the latest follow-up.The canal stenosis ratio was decreased from preoperative 54.3％±8.2％ to 12.5％±5.3％ at the latest follow-up.MRI showed that the cervical spinal cord was adequately decompressed in situ.No specific complications were identified that were associated with this technique.Conclusion The present study elaborates the surgical tips and demonstrates the satisfactory outcome of ACAF for the treatment of OPLL.This novel technique has the potential to serve as an alternative surgical technique for the treatment of cervical OPLL.

Objective To synthesize a series of 13-acylmatrine derivatives and evaluate their in vitro antitumor activity . Methods Using sophocarpine as the starting material ,a series of new compounds were synthesized through Michael addition , Staudinger reduction and acylation .The structure of target compounds were confirmed by 1 H NMR and MS techniques .Their antitumoractivityagainsthumanhepatomacells(BEL-7404)andmicemelanomacells(K111)wereevaluated invitrobyMTT assay .Results We synthesized 9 compounds and all the compounds exhibited inhibitory activities against BEL-7404 and K111 . Conclusion Compound 4b and compound 4e exhibit good in vitro antitumor activity to human hepatoma cells (BEL-7404) .

Objective To use three different methods in attempt to estimate the biological dose of the patient partially exposed to 192Ir source at5.7 accident in Nanjing,so as to provide dosimetric information for clinical remedy of exposed patients in the emergency of a nuclear accident.Methods Peripheral blood samples were collected on days 5 after exposure.The biological dose was estimated by the yields of dicentrics plus rings ( dic + r),cytokinesis-block micronuclei (CBMN) assay and nucleoplasmic bridge plus FHC (NPB + FHC).The homogeneity of radiation exposure was examined by Poisson distribution of dicentrics.Results By using three different methods,the whole body equivalent dose was dic + r estimated to be 1.51 Gy (95％ CI 1.40-1.61),1.47 Gy (95％ CI 1.36-1.60) by CBMN and 1.30 Gy (95％ CI 1.00-1.60) by NPB + FHC,respectively.A non-poisson distribution was also detected,suggesting partial body radiation exposure.Conclusions The estimated whole body equivalent dose ot a non-uniform radiation exposure was consistent with clinical diagnosis,suggesting that the yields ofdic + r,CBMN,as well as NPB + FHC,are efficient approaches to the estimation of biological doses.

Objective To explore the natural attenuation pattern of three biological dose estimation indexes in vivo by investigating the effect on biological dosimetry of peripheral blood sampling at different time points from the victim partially exposed to 192Ir radiation source at5.7 accident in Nanjing.Methods Peripheral blood of the patient was collected on days 5,40 and 280 after exposure,respectively.The yields of dicentrics plus rings chromosomes (dic + r),cytokinesis-block micronuclei (CBMN) and nucleoplasmic bridge + fusion + horse shoe + circular(NPB + FHC) were analyzed.The dynamic reduction and dose estimation were both observed using the biomarkers mentioned above after exposure.Results Compared to the estimates on days 5 after exposure,the dose values estimated on days 40 and 280 decreased by 34％ and 49％ fordic + r method,48％ and 79％ for the CBMN assay,and 48％ and 75％ for NPN + FHC method,respectively.Conclusions Three biological dose estimation indexes show a progressive decrease in vivo,with the half-life of dic + r/cell being 40 days.The doses estimated using these three indexes on days 40 after exposure showed a relative deviation more than 20％ compared with those on days 5 after exposure.