Objectives To investigate the association between HLA-DQB1 alleles and Han Chinese with generalized pustular psoriasis (GPP) from Shandong. Methods The distributing frequencies of HLA-DQB1 alleles were detected with polymerase chain reaction-sequence specific primers (PCR-SSP) in 38 GPP patients and 94 healthy subjects from Shandong. Results ①The frequencies of HLA-DQB1*0201 and *0603 alleles increased significantly in GPP patients compared with those of the healthy controls(Pc = 0.005 and Pc = 0.013 , respectively), and the frequency of HLA- DQB1*0604 alleles decreased (OR = 0.08, Pc = 0.039). ②There were significant association between the GPP patients with a previous history of psoriasis vulgaris and HLA-DQB1*0201 and *0603 alleles (OR = 32.31, Pc = 0.005; OR = 12.42, Pc = 0.005, respectively), and between the GPP patients without the history and HLA-DQB1*0602 alleles (OR = 5.60, Pc = 0.039). Conclusions HLA-DQB1*0201 and *0603 alleles are significantly associated with the Chinese patients with GPP in Han population from Shandong. There is a significant heterogeneity in the GPP patients with and without the history of psoriasis vulgaris.

Objective To evaluate the accuracy of multi-slice spiral computed tomography (MSCT) in preoperative TN staging and in judging surrounding mesenteric invasion.Methods 96 cases of patients with colon carcinoma which was historically confirmed were collected.Common practice scanning with inflation and dynamic contrast-enhancement scan were performed preoperatively and the images of plain scan,venous phase and arterial phase of contrast enhancement including multi-planar and curved planar reconstruction were obtained.TN staging and evaluation of surrounding mesenteric infiltration were made by MSCT.Surgical findings and pathological results were compared with MSCT diagnosis.The accuracy,sensitivity,specificity,false negative rate,false positive rate and consistency analysis between them were compared.Results The accuracy,sensitivity,speciality rate,false negative rate and false positive rate of TN staging of colon cancer,as well as mesenteric infiltration determined with MSCT were consistent with the clinical and historical results (Kappa ＞ 0.69,P ＜ 0.01),meaning good consistency.Conclusion MSCT for colon inflation is a useful method for revealing T staging (≤T2-T4),N staging and mesenteric infiltration of colon carcinoma preoperatively.It is also an important noninvasive method to provide surgeons with valuable information for making treatment plan of the tumor.

with PsA in Chinese Han population from Shandong Province.

Objective To investigate the clinical and radiological features of psoriatic arthritis,and to offer a basis to the formulation of diagnostic and classification criteria for psoriatic arthritis with high sensitivity and specificity.Methods A cross-sectionaI and retrospective study was performed to analyze the clinical and radiological features of 61 patients with confirmed diagnosis of psoriatic arthritis,along with the clinical onset features and evolution rules of the disease.These features were compared with the traditional criteria for psoriatic arthritis.Results These patients exhibited divelse clinical and radiological features.Of the five types of arthritis involved in the traditional criteria,distal interphalangeal arthritis was diagnosed in 38 patients,asymmetric pauciarthritis in 5 padents,symmetric polyarthritis in 33 patients,arthritis mutilans in 4 patients,ankylosing spondylitis in 12 patients,and they symptomatically overlapped each other.Other types of arthropathy,which were not included in the traditional criteria,were also observed in these patients.For example,undifferentiated spondyloarthropathy was diagnosed in 17(28%)patients,peripheral enthesitis in 19(31%)patients,and arthritis in privileged sites in 6(10%)patients(5 in temporomandibular joint and 1 in sternoclavicular joint).In the case of radiological profiles in the traditional criteria,pen cap-like abnormality due to bone absorption was noticed in 6 cases,sharpening of finger tips in 6 cases,bamboo-like syndesmophyte in 5 cases,sacroiliitis grade 3-4 in 8 cases.Other radiological manifestations which were beyond the traditional criteria but found in the patients included fluffy periostitis(n=19),hyperostosis with ill-defined edge(n=12),bone erosion(n=25),local and assymmetry syndesmophyte(n=8),sacroiliitis grade 2-3(n=8),etc.The clinical findings hinted that psoriatic arthritis had diverse onset features,and took on a progressive course.Conclusions Psoriatic arthritis displays a diverse clinical,radiological and onset feature as well as a complicated evolution.The traditional criteria only cover partial characters,and could not satisfy the need for early diagnosis and accurate classification of psoriatic arthritis,and there is an urgent demand for the formulation of a new diagnostic and classification criteria for this disease.

Objective To study mutations in the extracellular matrix protein 1 (ECM1) gene in a family with lipoid proteinosis (LP). Methods Bi-directional DNA sequencing was used to detect the ECM1 gene in patients with LP as well as among their parents, siblings and children. Results Sequencing from the affected individuals revealed a new compound heterozygote of missense/nonsense mutations, C220G/R476X, which were not found in the control group. The father was a carrier of the missense mutation C220G and the mother was a carrier of the nonsense mutation R476X, both on one allele. The other siblings, the patients' children and their siblings' children were carriers of either C220G or R476X mutations. Conclusion A new compound heterozygous mutation of ECM1 gene was identified in this LP family.

Objective To investigate the effect of total hip arthroplasty in treatment of patients with ankylosing spondylitis and bilateral hip bony ankylosis. Methods 43 patients with ankylosing spondylitis and bilateral hip bony ankylosis were randomly divided into observation group (23 cases) and control group (20 cases) in accordance with the principle of informed consent, individually treated by total hip arthroplasty and conservative treatment, the effect of two groups were compared and analyzed. Results In the observation group, the postoperative Harris hip score and the VAS pain score of patients were significantly better than the control group,the differences were all statistically significant between two groups( all P ＜ 0.05 ). Excellent rate of the two groups were 91.3% and 60.0% respectively, and the difference was statistically significant ( x2 = 4.328, P ＜ 0.05 ). Conclusion Total hip arthroplasty in treatment of patients with ankylosing spondylitis and bilateral hip bony ankylosis has better clinical effect, and could improve the quality of life of patients, so it was worthy of clinical application.

Objective To detect the mutations in ATP2C1 gene of 5 sporadic patients with Hailey-Hailey disease (HHD).Methods Five sporadic patients with HHD collected from the outpatient clinic setting were recruited into this study with informed consent.Blood samples were taken from all patients and 100 unrelated human controls.and DNA was extracted from these samples.Mutation scanning was carried out for ATP2C1 gene by polymerase chain reaction (PCR) and direct sequencing.Results The diagnosis of all cases was confirmed by typical clinical manifestation,cutaneous pathology and immunofluorescence pathology.Five novel mutations.including a deletion mutation (2025delG),three missence mutations (L269R,C348R,A651D) and a non-sense mutation (Q259X) were identified in these cases.No mutations were detected in any of the 100 controls.Conclusion Five novel mutations in ATP2C1 gene have been identified for Hailey-Hailey disease.

Objective:To establish a rapid quantitative PCR (qPCR) technique for Mycobacterium marinum skin infections, and to analyze its clinical diagnostic efficiency. Methods:DNA was extracted from Mycobacterium marinum colonies and serially diluted (10 -1 to 10 -8). Twelve pairs of previously reported primers and probes, as well as 6 pairs of newly designed primers and probes in this study, were used for qPCR amplification to identify the most sensitive primers and probes for the detection of Mycobacterium marinum. Skin lesion tissues were collected from 72 patients with confirmed Mycobacterium marinum infections (experimental group) and 68 with other mycobacterial infections (control group) at Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences in 2021. These skin tissues were subjected to qPCR amplification, interferon-gamma release assay (IGRA), acid-fast staining, and tissue culture to evaluate the diagnostic efficacy. Results:The newly designed primers and probes targeting the mycobacterial enhanced infection locus 2 (Mel2) demonstrated the highest sensitivity, with a detection limit of 0.86 copies/μl (cycle threshold value = 37) ; the qPCR amplification with the Mel2 primers/probes did not yield positive results when used for the detection of other mycobacteria (including Mycobacterium leprae and Staphylococcus spp) . Among the 72 patients in the experimental group, 44 were positive for qPCR with a sensitivity of 61.1% (95% CI: 49.6% - 71.5%), and 47 were positive for culture with a sensitivity of 65.2% (95% CI: 53.8% - 75.3%) ; all the 68 controls were negative for both qPCR and culture, with their specificities both being 100%. Among 65 patients subjected to IGRA, 31 were positive with a sensitivity of 47.7% (95% CI: 36.0% - 59.6%), while 16 out of 25 controls were negative for IGRA with a specificity of 64.0% (95% CI: 44.5% - 79.8%). Among 58 patients subjected to acid-fast staining, 37 were positive with a sensitivity of 63.8% (95% CI: 50.9% - 74.9%), and 52 out of 66 controls were negative for acid-fast staining with a specificity of 78.8% (95% CI: 67.5% - 86.9%). The combination of qPCR and culture resulted in a sensitivity of 93% and a specificity of 100% for the detection of Mycobacterium marinum. Conclusion:In this study, a highly sensitive qPCR assay was developed for the detection of Mycobacterium marinum, and its combination with culture could further improve the detection sensitivity.

Background::Atopic dermatitis (AD) affects approximately 10% of adults worldwide. CM310 is a humanized monoclonal antibody targeting interleukin-4 receptor alpha that blocks interleukin-4 and interleukin-13 signaling. This trial aimed to evaluate the efficacy and safety of CM310 in Chinese adults with moderate-to-severe AD.Methods::This multicenter, randomized, double-blind, placebo-controlled, phase 2b trial was conducted in 21 medical institutions in China from February to November 2021. Totally 120 eligible patients were enrolled and randomized (1:1:1) to receive subcutaneous injections of 300 mg CM310, 150 mg CM310, or placebo every 2 weeks for 16 weeks, followed by an 8-week follow-up period. The primary endpoint was the proportion of patients achieving ≥75% improvement in the Eczema Area and Severity Index (EASI-75) score from baseline at week 16. Safety and pharmacodynamics were also studied.Results::At week 16, the proportion of EASI-75 responders from baseline was significantly higher in the CM310 groups (70% [28/40] for high-dose and 65% [26/40] for low-dose) than that in the placebo group (20%[8/40]). The differences in EASI-75 response rate were 50% (high vs. placebo, 95% CI 31%–69%) and 45% (low vs. placebo, 95% CI 26%–64%), with both P values <0.0001. CM310 at both doses also significantly improved the EASI score, Investigator’s Global Assessment score, daily peak pruritus Numerical Rating Scale, AD-affected body surface area, and Dermatology Life Quality Index compared with placebo. CM310 treatment reduced levels of thymus and activation-regulated chemokine, total immunoglobulin E, lactate dehydrogenase, and blood eosinophils. The incidence of treatment-emergent adverse events (TEAEs) was similar among all three groups, with the most common TEAEs reported being upper respiratory tract infection, atopic dermatitis, hyperlipidemia, and hyperuricemia. No severe adverse events were deemed to be attributed to CM310. Conclusion::CM310 at 150 mg and 300 mg every 2 weeks demonstrated significant efficacy and was well-tolerated in adults with moderate-to-severe AD.Trial Registration::ClinicalTrials.gov, NCT04805411.

Objective:To investigate the clinical characteristics of psoriasis and status quo of medical care for patients in county areas of China.Methods:This study was a cross-sectional investigation. Based on the “Qianxian Wuyin” Project (a national project for upgrating ability for psoriasis care at county level), an online questionnaire survey was conducted in the dermatology departments of 459 county hospitals in 404 pilot administrative counties across China from February to June 2023. The questionnaire included demographic information of patients (gender, ethnicity, age, place of residence, education, marital status), and clinical characteristics of psoriasis (disease course, type, comorbidities, body surface area (BSA) and previous treatment. The Dermatology Life Quality Index (DLQI) and Psoriasis Area and Severity Index (PASI) were applied for assessing the quality of life and disease severity, and completed by patients or guardian and doctors, respectively.Results:A total of 16 935 patients completed the questionnaire. The age of patients was 1-102(44.17±11.58)years, and 71.0% (12 036/16 935) were 30-59 years old. The ratio of male to female was 2.21∶1; 24.3%(4 117/16 935) of patients had high school education; there were 9 940 patients(58.7%) with previous or current smoking and/or alcohol use; 42.8%(7 218/16 855) of patients had a disease course of 1-5 years. There were 15 630 patients(92.3%) with DLQI≥10, 8 346 patients(49.7%) with PASI≥10, 15 017 patients(89.2%) with BSA≥10%. The plaque type was the most common disease type ( n=14 965, 88.7%), and spotting type ranked the second ( n=1 141, 6.8%). The most common initial site was the trunk ( n=12 309, 72.9%). Among the comorbidities, hypertension was the most common one ( n=1 681, 10.0%). There were 7 650 reports of treatment response to conventional topical drug therapy and 3 112 reports of treatment response to systemic drug therapy, with 6 269 (81.9%) and 2 493 (80.1%) reporting poor or no response, respectively. Conclusions:The survey shows that in the county areas of China, the majority of psoriasis patients are severe patients with short course of disease, plaque type is the most common type, and hypertension is the most common comorbidity; and the conventional treatment is less effective for most patients.