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 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 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 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 detect gene mutations in a patient with dystrophic epidermolysis bullosa and his family.Methods:Clinical data were collected from a child with dystrophic epidermolysis bullosa, and DNA was extracted from peripheral blood of the patient and his parents for whole-exome sequencing. The sequencing result was compared with previously reported sequences of genes related to dystrophic epidermolysis bullosa, the comparison results were verified by Sanger sequencing, and biological information was predicted. The mutations were also verified in 100 healthy controls.Results:Compound heterozygous mutations were identified in the patient, including 3 pathogenic mutations, namely c.3625_3635 del11 and c.6270delT mutations in the COL7A1 gene and c.12772G>A mutation in the PLEC gene. The c.6270delT mutation in the COL7A1 gene and c.12772G>A mutation in the PLEC gene were novel mutations. The c.3625_3635 del11 and c.6270delT mutations in the COL7A1 gene were inherited from the patient′s father, which led to premature peptide chain termination, producing a truncated protein; the c.12772G>A mutation in the PLEC gene was inherited from the patient′s mother, resulting in substitution of glutamic acid by lysine at amino acid position 4258 of plectin (p.Glu4258Lys) .Conclusion:Digenic mutations in the COL7A1 and PLEC genes were responsible for autosomal recessive dystrophic epidermolysis bullosa in the patient.

Objective:To summarize characteristics of dermatitis herpetiformis (DH) patients in China.Methods:Published literature on DH in Chinese patients was searched in China National Knowledge Infrastructure database, Wanfang data and PubMed database from establishment of these databases to December 2020. Patients were screened according to the inclusion and exclusion criteria, and characteristics of patients meeting the diagnostic criteria were analyzed.Results:A total of 55 patients with DH were involved in this study. Among these patients, the average age of onset was 44.9 ± 18.5 years, the ratio of males to females was about 2.5∶1, and the average period of delayed diagnosis was 4.1 years. Skin lesions mainly manifested as tense blisters on an erythematous base, and were distributed on the buttocks, elbows, back, knees, etc. Histopathological examination of 39 cases showed subepidermal blisters in 37, and neutrophil infiltration in 17. Direct immunofluorescence study of perilesional skin tissues of 33 cases showed granular IgA deposition in 31, and IgA deposits limited to the dermal papilla in 23. Among 39 cases with available data on treatment, 25 were treated with dapsone alone or in combination with a gluten-free diet, most of whom achieved marked therapeutic outcomes with subsidence of skin lesions within 1 month.Conclusions:DH in China mainly clinically manifests as tense blisters on an erythematous base, and is mainly characterized by granular IgA deposition under a direct immunofluorescence microscope. Genetic factors are involved in its etiology, and dapsone is effective for its treatment.

Objective:To investigate epidemiological characteristics of Mycobacterium marinum infection cases in the Dermatology Hospital of Shandong First Medical University from January 2019 to December 2021. Methods:Data were collected from patients with Mycobacterium marinum infection in the Dermatology Hospital of Shandong First Medical University from January 2019 to December 2021. Demographic characteristics, clinical features and prognosis of patients were retrospectively analyzed. Differences between groups were analyzed using t test, Chi-square test and Fisher′s exact test; factors influencing the time to diagnosis (the time from the first appearance of skin manifestations to the diagnosis of Mycobacterium marinum infection in the hospital) longer than 12 months were analyzed using Chi-square test and multivariate logistic regression model, and the odds ratio ( OR) and 95% confidence interval (95% CI) were calculated. Results:From 2019 to 2021, a total of 373 cases of Mycobacterium marinum infection were diagnosed in the hospital, and the number of cases in 2021 was 4.06 times that in 2019; the male-to-female ratio was 1∶1.49, and their age was 54.24 ± 14.04 years. Among the 373 patients, 211 (56.57%) had a history of trauma caused by aquatic products (e.g., fishes, shrimps), of which 51 (24.17%) were stung by sea perch. Skin lesions involved unilateral limbs in 327 (87.67%) patients, only involved the hands or wrists in 188 (50.40%) patients, and 258 (69.17%) had multiple skin lesions. Among the 341 patients with treatment information, 105 (30.79%) were given one antibiotic, 214 (62.76%) received combination treatment with two antibiotics, and 15 (4.40%) were treated with three antibiotics. The response rate was 98.77% (321/325), and the time to diagnosis [ M ( Q1, Q3) ] was 5.03 (3.00, 8.37) months. Multivariate logistic regression analysis indicated higher proportions of males ( OR [95% CI]: 1.95[1.11 - 3.41], P = 0.02), patients aged > 55 years ( OR [95% CI]: 1.82[1.04 - 3.18], P = 0.04), patients with skin lesions only involving hands, arms or lower limbs ( OR [95% CI]: 3.48[1.83 - 6.61], P<0.001) among the patients whose time to diagnosis was longer than 12 months. Conclusions:The number of patients with Mycobacterium marinum infection was increased in the Dermatology Hospital of Shandong First Medical University year by year from 2019 to 2021, and fish sting wounds were the main cause of infection. The most common treatment regimen was the combination of two antibiotics, with a high efficacy profile.