Objective To identify the gene locus and the mutation of DSRAD (double-stranded RNA adenosine deaminase) in a Chinese dyschromatosis symmetrica hereditaria(DSH) family. Methods After confirming the diagnosis of the DSH proband, the genomic DNA was extracted from the whole blood samples of every members of the pedigree. The DSRAD gene intervals were localized by linkage analysis and haplotype reconstruction. The mutation of DSRAD was detected by direct sequencing. Results The candidate gene was localized at the 1q region, consistent with the reported region. The direct sequencing results showed that there was a CAA→TAA transition at exon 2 of DSRAD in all affected family members, which consequently led to a nonsense mutation of Gln517Ter. Conclusion A nonsense mutation is found in the Chinese DSH family.

Objective:To assess the application value of reflectance confocal microscopy (RCM) in evaluating clinical efficacy of hemoporfin-mediated photodynamic therapy for purple-type port-wine stain.Methods:From April 2018 to January 2020, a total of 39 patients with centrofacial purple-type port-wine stains were enrolled from Department of Dermatology, Wuhan No.1 Hospital, and received 3 sessions of hemoporfin-mediated photodynamic therapy. Before the first treatment, and 3- 6 months after 3 sessions of hemoporfin-mediated photodynamic therapy, skin lesions were photographed, and RCM was conducted to measure the diameter and density of blood vessels at a depth of 100 μm in the lesions. Clinical efficacy was evaluated based on the clinical photos, and the average diameter of blood vessels and density of blood vessels per square millimeter of lesion area were calculated. Measurement data were compared among different groups by using one-way analysis of variance, multiple comparisons were performed using least significant difference test, and comparisons of parameters before and after treatment were conducted by using paired t test. Results:After 3 sessions of hemoporfin-mediated photodynamic therapy, 1 (2.56%) patient was nearly completely cured, 16 (41.03%) received marked improvement, 20 (51.28%) received improvement, and 2 (5.13%) showed no response to the treatment. In the patients receiving marked improvement or improvement, the average diameter and density of blood vessels significantly decreased after treatment compared with those before treatment (all P < 0.05) , while no significant difference was observed before and after treatment in the patients with no response (both P > 0.05) . The average difference in the blood vessel diameter before and after treatment was significantly higher in the patients receiving marked improvement (48.56 ± 17.87 μm) than in those receiving improvement (31.15 ± 21.09 μm, P < 0.05) and those with no response (12.00 ± 2.83 μm, P < 0.05) . The average difference in the blood vessel density before and after treatment was 7.13 ± 3.44, 5.00 ± 2.22 and -0.50 ± 3.54 vessels/mm 2, respectively, in the patients receiving marked improvement, improvement and those with no response, and pairwise comparisons between the 3 groups all showed significant differences (all P < 0.05) . Conclusion:RCM can be used to assess the average diameter and density of blood vessels in the port-wine stain lesions before and after hemoporfin-mediated photodynamic therapy, and is helpful in quantitatively evaluating the therapeutic effect of hemoporfin-mediated photodynamic therapy.

Objective To investigate the function of major histocompatibility complex (MHC)class Ⅰ-related gene (MIC) in ulcerative colitis (UC) pathogenesis. Methods The difference of MICA, M ICB and their ligand NKG2D genes expression in colonic mucosa tissue of 34 UC patients and 12 healthy people were determined by fluorescent real-time reverse-transcriptase polymerase chain reaction (RT-PCR) and the expression location of M ICA in colonic mucosa tissue was obtained by laser scanning confocal microscope. Results The mRNA level of MICA, MICB and NKG2D expression in UC groups (3. 5408±2. 6658, 8. 9879±3. 2893 and 2. 4395±0. 8147 accordingly) was significantly higher than that in the healthy controls ( 1. 0477 ± 0. 7201, 4. 6293 ± 1. 2616 and 1. 1624±0. 3954 accordingly) (P = 0.0053, 0.0039 and 0. 0078 accordingly). It suggested that MICA was expressed in colonic epithelia cell membranes by laser scanning confocal microscopy.Conclusion The mRNA level of MICA, M ICB, and their ligand, NKG2D expression were all up regulated in the colonic mucosa of UC patients, which indicated MIC gene might perform important local function in UC.

Objective To investigate the analgesic efficacy and safety of parecoxib-sodium in patients undergoing laparoscopic cholecystectomy. Methods Ninety patients received laparoscopic cholecystectomy were divided into parecoxib-sodium group,flurbiprofen group and control group by random digits table, 30 cases in each group, all patients received the drug by vein 30 minutes before surgery. The postoperative pain intensity (VAS score), satisfaction of patients, changes of blood coagulation function and maximum agglutination rate (MAR) of platelet agglutination test before and after treatment and the incidence of postoperative adverse reaction were observed and compared. Results Pestoperative VAS scores and psychiatric symptoms at different time in parecoxib-sodium group and flurbiprofen group were significantly lower than those in control group (P ＜ 0.05), analgesic satisfaction rate were 93.3% (28/30) in parecoxibsodium group and 90.0% (27/30) in flurbiprofen group, which were significantly higher than that in control group [20.0%(6/30)] (P＜0.05). There were no significant difference in blood coagulation function and MAR before and after treatment among three groups (P ＞ 0.05). Conclusion Parecoxib-sodium displays significant analgesic effects and low rate of adverse events for the patients undergoing laparoscopic cholecystectomy, it is worthy of clinical application.

The histological and immunohistological features of two cases of cutaneous lymphadenoma was studied. A single, erythematous nodule with smooth surface developed on the face of both patients. The lesion slowly progressed. Histology revealed irregular epithelial lobules in the dermis which showed a peripheral palisaded border of basaioid-like cells as well as a center composed of clear cells. Some epithelial lobules and surrounding stroma were infiltrated by numerous small lymphocytes. Immunohistological study showed that the lymphocytic infiltration was predominantly composed of T cells (CD3 positive) along with a small number of B cells (CD20 positive). Within epithelial lobules and surrounded stroma, there were numerous dendritic cells that were positive for S-100 and CDia but negative for cytokeratin 7, cytokeratin 20 or carcino-embryonic antigen. In the center of epithelial lobules in one case, a few cells positive for epithe-lial membrane antigen and CD30 was observed. The diagnosis of cutaneous lymphadenoma was made according to the pathological and immunohistochemical findings, and the infiltration was predominated by CD3-positive lymphocytes in this uncommon epithelial neoplasm.

Objecfive To investigate the association between the exon 2,3,4 of MHC class Ⅰ chain-related gene-B(MICB)and ulcerative colitis(UC)in Chinese Han.Methods Using polymerase chain reaction single-stranded conformation polymorphism,allele frequency of MICB exon 2,3 and 4 in 105 patients with UC and 213 age and sex matched healthy controls were genotyped.All of the studied individuals were Chinese Han.Results Allele frequency of MICB 0106 was increased in patients with UC as compared with normal controls(19.0%vs 8.9%,P=0.000,Pc＜0.001,OR=2.402,95%CI:1.488-3.879).The frequency of MICB 0106 was increased significantly in patients with extensive colitis (24.4%vs 8.9%,P=0.000,Pc＜0.001,OR=3.294,95%CI:1.800-6.027),moderate and severe disease(24.1%vs 8.9%,P=0.000.Pc＜0.001,OR=3.294 95%CI:1.893-5.576)and in those with extra intestinal manifestations(20.5%vs 8.9%,P=0.002,Pc=0.012,OR=2.626,95%CI:1.418-4.861).Furthermore,MICB 0106 allele was higher in frequency in the male patients with UC (22.1%vs 8.0%,P=0.001,Pc=0.006,OR=3.276,95%CI:1.737-6.178)and the patients more than 40 years old(28.8%vs 8.3%,P=0.000,Pc＜0.001,OR=4.500,95%CI:2.381-8.504)as compared with healthy controls.Conclusion MICB 0106 allele is positively associated with UC,especially with extensive colitis,moderate and severe disease,presence of extra intestinal manifestations,male gender and age of more than 40 years in Chinese Han in Hubei province.

Objective To analyze clinical characteristics of pemphigoid nodularis. Methods Seven cases of pemphigoid nodularis were included in this retrospective study. The clinicopathological features of pemphigoid nodularis were retrospectively analyzed, including patients′gender, age at onset, clinical manifestations, treatment and follow?up. Results Of the 7 patients, 4 were female and 3 were male, with the median age at onset being 59 years. Clinical manifestations mainly included markedly pruritic prurigo?like lesions and nodular lesions with or without blisters. The most common misdiagnoses were nodular prurigo and eczema. Pathology showed epidermal hyperplasia and subepidermal clefts, collagen hyperplasia in the papillary dermis, and perivascular infiltration of lymphocytes and eosinophils in the superficial dermis in all the patients. Direct immunofluorescence assay showed linear deposition of IgG and C3 in the basement membrane zone, and indirect immunofluorescence was positive in 2 patients. Glucocorticoids combined with immunosuppressants were effective in all the patients. Conclusions Pemphigoid nodularis is easy to be misdiagnosed, and immunopathology is helpful for its diagnosis. Glucocorticoids combined with immunosuppressants appear to be effective for its treatment.

Objective To investigate the relationship between the clinical manifestations,prognosis and histopathological findings of mucormycosis.Methods The clinical data on and pathological findings from 7 cases of mucormycosis confirmed by fungal culture in the institute from 1989 to 2006 were analyzed retrospectively.Results There was 1 case of hinocerebral mucormycosis and 6 cases of cutaneous mucormycosis,among them,2 were mucormycotic necrotizing fasciitis (MNF).The condition of patients with rhinocerebral mucormycosis or MNF aggravated rapidly and all the 3 patients died from mucormycosis. Histopathological examination showed mixed infiltrates of inflammatory cells as well as necrosis and angioin vasion.On the contrary,the condition of the remaining 4 patients with cutanesus mucormycosis,who presented mainly with indurated erythematous patch,progressed slowly,and 2 patients were cured.Histologically,the lesions were characterized by granulbmatous infiltration with a few hyphae;no typical angioinva sion phenomenon was noted.There was no evidence of perineural invasion with hyphae in any of the 7 cases.ConclusionIn patients with mucormycosis,histopathological findings characterized by mixed infiltrates of inflammatory cells,numerous hyphae and typical angioinvasion phenomenon may herald a poor prognosis.

High dose grid radiotherapy ( GRID ) refers to a single fraction of high-dose radiation ( 10-25 Gy) in which, beams are divided into multiple small beam lets through a grid collimator or MLC, resulting in non-uniform dose distribution of high and low dose area ("peak-to-valley" effect) in the target volume. Recently, as 3D radiotherapy ( 3DRT) technology emerged, the 2D GRID has been reconfigured into 3D dose LATTICE whereby high doses are concentrated at each lattice vertex within the radiation target volume with drastically lower dose between vertices through multiple focused non-coplanar beams with different radiation techniques. Compared with 2D GRID therapy, 3D LATTICE shows significant effect on"peak-to-valley" and minimizes radiation to surrounding tissues. Experimental and clinical data have shown that LATTICE therapies can reduce toxicity to normal tissue while stimulating bystander effects, endothelial cell death and immunogenic abscopal effects leading to enhanced killing of tumor cells and further improve the control of the local and distant disease. The clinic experience with LATTICE, although limited, has demonstrated favorable outcomes, especially for treating bulky tumors and palliative intend. The exact mechanism of the clinical advantages by LATTICE is not explicitly known and a more comprehensive biological study and clinical trials are called should be carried out.

Objective To investigate dermoscopic and reflectance confocal microscopic (RCM)features of sebaceous nevus in patients of different ages.Methods A total of 83 patients histopathologically diagnosed with sebaceous nevus were enrolled from Department of Dermatology of Wuhan No.1 Hospital between January 2016 and December 2016,and divided into 4 age groups (＜ 10 years,10-20 years,21-59 years,≥ 60 years) according to the age.The dermoscopic and RCM features were collected and analyzed.Results Among the age group of ＜ 10 years (21 cases),dermoscopic images of skin lesions showed that uniform,globular or plaque-shaped yellowish-red structures arranged in a cobblestone-like pattern were independently distributed in an orange background,with vascular proliferation and dilatation,while RCM images showed sebaceous gland hypoplasia and juvenile hair follicles.Among the age group of 10-20 years (28 cases),dermoscopy showed aggregated,non-hair follicle,round or oval yellow structures of varying sizes with telangiectases,while RCM showed botryoidal sebaceous glands at the dermal-epidermal junction and superficial dermis,which were characterized by tube-like or handle-like structure in the center,aggregated fish roe-like or frogspawn-like sebaceous gland lobules in the surrounding area and verrucous or papillomatous hyperplasia in the epidermis.The age groups of 21-59 years (30 cases) and 10-20 years showed the similar imaging manifestations.The main imaging manifestation of the age group of ≥ 60 years (4cases) was papillomatous hyperplasia.Conclusions Sebaceous nevus is a dynamic developmental disease,and its imaging characteristics obviously differ among different age stages.Sebaceous nevus has characteristic structures under dermoscopy and RCM,which can serve as efficient noninvasive diagnostic methods for sebaceous nevus.