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Monogenic inherited skin diseases are a group of clinically rare diseases that include nearly 1000 phenotypically distinct disorders. Through the concerted efforts of researchers in dermatological sciences and related disciplines worldwide, many advances have been made in the etiology and pathogenesis of these diseases in the last 30 years. However, it is important to note that the treatment of the majority of monogenic inherited skin diseases remains a challenge for clinicians. Dupilumab is a fully human monoclonal IgG4 antibody that specifically binds to the α subunit of the IL-4 receptor, thereby inhibiting the IL-4 and IL-13 signaling pathway. It was first approved for the treatment of moderate-to-severe atopic dermatitis (AD) and has been used worldwide. In recent years, the drug has been successfully used to treat some monogenic inherited skin diseases with AD-like clinical manifestations, such as hyper-IgE syndrome and Netherton syndrome, with good efficacy. The drug was later tried for the treatment of other monogenic inherited skin diseases, such as Hailey-Hailey syndrome and epidermolysis bullosa pruriginosa, where it was also proven to be effective. In this paper, we review literature reports related to dupilumab for the treatment of monogenic inherited skin diseases in recent years, focusing on its efficacy, safety and possible therapeutic mechanisms. We aim to provide a possible scientific basis for the future application of this drug in the field of rare monogenic inherited skin diseases.
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Objective:To investigate clinicopathological features of 4 cases of intravascular large B-cell lymphoma (IVLBCL) .Methods:Clinical and pathological data were collected from 4 patients with histopathologically confirmed IVLBCL in Department of Dermatology, Peking Union Medical College Hospital from January 2020 to November 2020, and retrospectively analyzed.Results:The 4 patients were aged 57 - 76 years, including 2 males and 2 females. Of the 4 patients, all had neurological symptoms, 3 had fever, 3 exhibited impaired exercise tolerance and suffocation, and 3 exhibited pitting edema of the body. Case 1 presented with a cherry hemangioma-like papule measuring 0.2 cm in diameter on the back, and case 2 with telangiectasia on the left breast and upper abdomen. Six skin samples were taken from the 4 patients for histopathological and immunohistochemical studies, and tumor cells were found in 1 cherry hemangioma-like lesion and 1 lesion of telangiectasia, as well as in 2 of 4 normal skin samples. Histopathological findings mainly were dilated dermal blood vessels filled with large atypical mononuclear cells, and the atypical mononuclear cells were positive for CD20 immunohistochemically.Conclusion:For those patients with suspected IVLBCL, hemangioma-like and telangiectasia lesions tend to show characteristic histopathological and immunohistochemical findings, and a biopsy of normal skin can facilitate early diagnosis of IVLBCL.
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Objective:To analyze the impact of COVID-19 on the number of hospitalization and the disease spectrum of children′s hospitals in China, so as to provide scientific basis for improving the epidemic response policy of children′s hospitals and restoring hospital operations.Methods:Discharged patients from 27 children′s hospitals from January 1, 2019, to December 31, 2020, were selected from the FUTang Updating medical Records(FUTURE) Database. The ratio of discharge number in 2020 to that in 2019 was calculated. Age groups, disease types, and discharge months were further divided to calculate the ratio of discharge numbers under different conditions.Results:The total number of discharged patients in 2020 was 76.76% of the total number in 2019. In terms of discharge time, the ratio rose slowly from the lowest values in February and March, and reached about 90% of the same period of 2019 at the end of 2020. In terms of age, the biggest change in the discharge number was among children aged 1-3 years, which was 71.87% in 2019. In terms of disease classifications, respiratory diseases changed the most in the number of discharged patients in 2020, accounting for 56.03% of that in 2019. The top five hospitalized diseases of children did not change, while the other ranks changed slightly.Conclusions:COVID-19 has a huge and lasting impact on the number of hospitalizations in children′s hospitals, and the hospitals should develop multiple approaches such as online medical care to cope with the long-term negative impact of the pandemic.
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Objective:To analyze the gastroscopy treatment technology in a Children′s Medical Center based on the diagnosis-related groups(DRG) and put forward suggestions for resource optimization.Methods:The data of the front pages of medical records of 22 medical institutions in a Children′s Medical Center in 2018 were divided into DRG groups. The patients in gastroscope treatment operation group(GK3)were selected, and the disease diagnosis, operation and payment methods of the patients in this group were analyzed.Results:Of the 22 medical institutions, 16 had GK3 group cases, and the number of cases was significantly different, ranging from 2 to 917. Among them, the institution with code M was characterized by multiple endoscopic treatment of esophageal stricture, but most other institutions rarely carried out the treatment of esophageal stricture. In GK3 group, the main payment method of children in Institution M with the highest constituent ratio was at one′s own expense, followed by non-local medical insurance. The main payment type of O and P institutions with the second and third constituent ratio was local medical insurance.Conclusions:The gap of the technology of gastroscopy in the treatment of esophageal stricture is large in all institutions. The high-quality medical resources can be sunk through the construction of pediatric medical alliance, and the gap between the regional medical technology can be continuously leveled.
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Objective To analyze the disease constitution,accuracy of clinical and pathological diagnoses of skin biopsy samples in Peking Union Medical College Hospital.Methods A total of 29987 patients subjected to skin biopsy were collected from Department of Dermatology,Peking Union Medical College Hospital from June 2010 to November 2018,and clinical and histopathological diagnoses of these skin biopsy samples were analyzed retrospectively.Results According to the results of histopathological diagnosis,confirmed diagnoses of these patients could be classified into 33 categories and 242 kinds.Common disease categories included epidermal tumors (2931 cases,9.77％),connective tissue diseases (2809 cases,9.37％),melanocytic tumors (2078 cases,6.93％),erythematous scaly pustular dermatoses (1376 cases,4.59％),lichenoid dermatoses (1291cases,4.31％),allergic or eczematous skin diseases (1282 cases,4.28％)and infectious skin diseases (1156 cases,3.86％).Common skin diseases included scleroderma (1887 cases,6.29％),pigmented nevus (1755 cases,5.85％),seborrheic keratosis (1136 cases,3.79％),eczema (1089 cases,3.63％),psoriasis (881 cases,2.94％),lichen planus (867 cases,2.89％),lupus erythematosus (638 cases,2.13％),pemphigus (549 cases,1.83％),and basal cell carcinoma (501 cases,1.67％).Poor consistency was observed between clinical diagnosis and histopathological diagnosis of lichen planus,bullous pemphigoid,granuloma annulare and hypereosinophilic dermatitis.Conclusions Common disease categories of the skin biopsy samples in Peking Union Medical College Hospital were epidermal tumors,connective tissue diseases,melanocytic tumors,erythematous scaly pustular dermatoses,lichenoid dermatoses,and allergic or eczematous skin diseases.Poor consistency was observed between clinical and pathological diagnosis in some skin diseases,and understanding of these diseases should be improved.
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Objective To evaluate the effect ofmicroRNA-143 (miR-143) on interleukin (IL)-13-induced expression of kallikrein 7 (KLK7) in primary normal human epidermal keratinocytes (NHEKs).Methods Some NHEKs at exponential growth phase were divided into 4 groups to be treated with recombinant human IL-13 at different concentrations of 0,2,10 and 50 μg/L respectively for 24 hours,and some NHEKs were treated with 50 μg/L IL-13 for 0,6,12,24 and 48 hours separately.After the treatment,NHEKs were collected,and total RNA was extracted.Real-time fluorescence-based quantitative PCR was performed to determine the mRNA expression of KLK7.Some other NHEKs were divided into another 4 groups:NHEK group (blank control group) receiving no treatment,IL-13 group treated with 50 μg/L IL-13,miR-NC group transfected with miRNA mimics negative control followed by the treatment with 50 μg/L IL-13,and miR-143 group transfected with miR-143 mimics followed by the treatment with 50 μg/L IL-13.After 24-hour treatment with IL-13,real-time fluorescence-based quantitative PCR and Western blot analysis were conducted to determine the mRNA and protein expression of KLK7 respectively in the above groups.Results After 24-hour treatment with IL-13 at concentrations of 0,2,10 and 50 μg/L,the mRNA expression of KLK7 in NHEKs was 1.00 ± 0.12,0.89 ± 0.04,1.15 ± 0.09 and 1.70 ± 0.10 respectively,and significantly increased along with the increase of IL-13 concentrations (F =92.48,P ＜ 0.05).After 0-,6-,12-,24-and 48-hour treatment with 50 μg/L IL-13,the mRNA expression of KLK7 in NHEKs was 1.00 ± 0.05,1.05 ± 0.12,1.71 ± 0.20,1.97 ± 0.19 and 2.48 ± 0.13 respectively,and significantly increased over time (F =206.44,P ＜ 0.05).Compared with the miR-NC group,the miR-143 group showed significantly decreased mRNA and protein expression of KLK7 (t =6.76,4.23 respectively,both P ＜ 0.05).Conclusion In NHEKs,IL-13 can up-regulate the expression of KLK7,likely by the regulation of miR-143.
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Objective To evaluate the sensitivity and specificity of BP180NC16a-ELISA in the diagnosis of bullous pemphigoid (BP). Methods A multi-center, randomized, double-blind, parallel-controlled study was conducted. Sera were collected from 106 patients with clinically confirmed active BP and 106 control subjects including patients with non-BP bullous diseases, scleroderma, psoriasis or systemic lupus erythematosus,late pregnant women and healthy blood donors. BP180NC16a-ELISA was performed on these sera. The IgG antibody levels measured by ELISA kit were compared with those measured by indirect immunofluorescence (IIF) test. Results Of the 106 BP sera, 81 were positive for BP180NC16a-ELISA with a sensitivity of 76.4%,83 for ⅡF test with a sensitivity of 78.3%. Among the 106 control serum samples, 95 were negative for BP180NC16A-ELISA with a specificity of 89.6%, and 102 for ⅡF test with a specificity of 96.2%. There was no significant difference between the two tests in dignostic sensitivity and specificity for BP (both P ＞ 0.05).Conclusion BP180NC16A-ELISA may serve as an adjuvant tool for the diagnosis of BP.
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Objective To evaluate the performance of desmoglein (Dsg)1 enzyme-linked immunosorbent assay (ELISA) in the detection of serum antibodies in patients with pemphigus foliaceus (PF). Methods Sera were obtained from 80 patients with PF and 132 human controls including 33 patients with bullous pemphigoid, 3 patients with linear IgA bullous dermatosis, 2 patients with acquired bullous epidermolysis, 20 patients with systemic lupus erythematosus (SLE), etc, and subjected to a random and blind test by Dsg1 ELISA and indirect immunofluorescence (IIF) on monkey oesophagus. Results The Dsg1 ELISA was positive in 75 (93.8%) patients with PF and 5 (3.8%) human controls (including 1 case of bullous pemphigoid, 1 case of SLE, 1 case of dermatomyositis, 1 case of eczema and 1 normal human control with indeterminate value), and IIF was positive in 71 (88.8%) patients with PF, but in none of the controls. The sensitivity and specificity was 93.8% (95% CI: 0.85 - 0.98) and 96.2% (95% CI: 0.91 - 0.99) respectively for Dsg1 ELISA in the serodiagnosis of PF, 88.8% (95% CI: 0.82 - 0.96) and 100% (95% CI: 0.96 - 1.00) respectively for IIF. There was no statistical difference in the sensitivities (P= 0.289) or specificities (P= 1.000) between the two test methods.Conclusions Dsg1 ELISA is a simple, sensitive and specific serological detection method, and can serve as an adjunct in the diagnosis of PF.
