Objective To study the role of calcitonin gene-related peptide(CGRP)and vasoactive intestinal peptide(VIP)in the pathogenesis of alopecia areata(AA).Methods Radioimmunoassay(RIA)was used to measure the levels of CGRP and VIP in plasma from30patients with AA and20normal controls.Immunohistochemistry was employed to detect the expression of CGRP and VIP in lesions of21patients with AA and16normal scalps.Results①The plasma levels of CGRP in progressing stage of AA(142.63?67.95pg/mL)were significantly lower than those in stable stage of AA(197.33?67.15pg/mL)and in normal controls(188.40?72.95pg/mL).②The plasma levels of VIP in progressing stage of AA(105.94?55.42pg/mL)were significantly lower than those in stable stage of AA(156.86?47.37pg/mL)and in normal controls(176.44?84.70pg/mL).③The expression of CGRP and VIP was significanly decreased in lesions of AA than that in normal scalps.Conclusion These findings indicate that CGRP and VIP may play a role in the pathogenesis of alopecia areata.

Objective To compare the efficacies of 4 risk models (THRIVE[Totaled Health Risks in Vascular Events],MSS[Multicenter Stroke Survey],HIAT[Houston Intra-Arterial Therapy],and GRASPS[Glucose at presentation,Race,Age,Sex,Systolic blood pressure,Severity of stroke at presentation]) in predicting intracranial hemorrhage and poor outcomes in acute anterior circulation ischemic stroke after mechanical thrombectomy.Methods From May 2013 to March 2016,153 consecutive patients with acute anterior circulation vascular occlusion conducted mechanical thrombectomy within 6 hours after onset and admitted to the Departments of Neurology,Jinling Hospital,Nanjing University School of Medicine and Zhongshan Hospital,Xiamen University were enrolled prospectively.Logistic regression analysis and the area under the receiver operating characteristic (ROC) curve (AUC) were used to investigate the efficacies of 4 risk models (the THRIVE,MSS,HIAT,and GRASPS scores) for predicting intracerebral hemorrhage (including any intracranial hemorrhage events and symptomatic intracranial hemorrhage) and poor outcomes (including 90 d all-cause death and modified Rankin Scale[mRS] score≥3) in acute anterior circulation ischemic stroke after mechanical thrombectomy.Results The MSS score (AUC 0.639,95%CI 0.548-0.730,P=0.004) and GRASPS score (AUC 0.616,95%CI 0.525-0.706,P=0.017) could predict any intracranial hemorrhage events,but the predictive accuracy was low.They had the predictive value for death within 90 d after mechanical thrombectomy,and the GRASPS score (AUC 0.783,95%CI 0.706-0.860,P<0.001) had the moderate predictive accuracy,and the AUC of the other 3 models was all<0.7,the predictive accuracy was low.The models could predict the poor prognosis at 90 d (90 d mRS≥3).The AUCs of both the GRASPS score and THRIVE score were >0.7.The AUC of GRASPS score was the largest (AUC 0.782,95%CI 0.708-0.885,P<0.01).Both had moderate predictive accuracy.Conclusion The GRASPS score had a better clinical predictive value for all-cause death and poor prognosis within 90 d after mechanical thrombectomy.The THRIVE score had a better clinical predictive value for poor prognosis at 90 d.The 4 models predictive value for intracranial hemorrhage events after mechanical thrombectomy should be further examined.

Aim To investigate the effect of sphingo-sine kinase 1 (SphK1 )on unilateral ureteral obstruc-tion(UUO)-induced tubulointerstitial fibrosis and ex-plore the possible mechanism.Methods The CD-1 mice were randomly divided into four groups:sham-op-eration group(Sham),PF-543 treatment control group (Sham +PF-543),model group(UUO)and PF-543 treatment group(UUO +PF-543).On 1 ,3,7 and 1 4 d after operation,eight mice were selected randomly from each group and sacrificed.The protein expressions of SphK1 ,mature TGF-β1 ,FN,ColⅠ,LC3,Beclin1 ,Atg5 and Atg1 2 were observed by Western blot.The histo-logical changes were examined by Masson′s trichrome stain.Immunhistochemistry was performed to measure the levels of expression of SphK1 ,FN and Col Ⅰ. Transmission electron microscope was used to observe the autophagic body.Results SphK1 expression and autophagy were both upregulated in a mouse model of kidney fibrosis induced by UUO. Meanwhile, in-creased mature TGF-β1 and deposition of extracellular matrix(ECM)were observed in tubulointerstitial areas compared with sham-operated mice.After intraperito-neal injection with the SphK1 specific inhibitor PF-543 in UUO mice,enhanced expression of SphK1 and acti-vated autophagy were significantly abrogated.Howev-er,aggravation of renal fibrosis was detected when SphK1 inhibitor PF-543 was applied to suppress SphK1 expression in UUO mice.Conclusion SphK1 activa-tion is renoprotective through the induction of autoph-agy in the pathogenesis of kidney fibrosis.

ObjectiveTo investigate the difference in the outcomes in patients with acute anterior circulation stroke having achieved the Thrombolysis in Cerebral Infarction (TICI) 2b and TICI 3 recanalization after mechanical thrombectomy.MethodsThe patients with acute anterior circulation stroke having achieved successful recanalization after mechanical thrombectomy were enrolled retrospectively.They were divided into TICI 2b (almost complete recanalization) group and TICI 3 (complete recanalization) group.The good outcome was defined as the modified Rankin Scale score 0-2 at 3 months after onset.ResultsA total of 83 patients were enrolled in the study, including 38 patients (45.8%) with TICI 2b and 45 (54.2%) with TICI 3;49 (59.0%) had good outcome, and 34 (40.9%) had poor outcome.The good outcome rate in the TICI 3 group was significantly higher than that in the TICI 2b group (68.9% vs.47.4%;χ2=3.946, P=0.047).After adjusting for age, hypertension, diabetes, baseline systolic blood pressure, triglyceride, intravenous thrombolysis, and ASITN/SIR collateral grades, TICI 3 was an independent predictor for good outcome at 3 months after onset (odds ratio [OR] 3.759, 95% confidence interval [CI] 1.098-12.871;P=0.035), while the higher baseline National Institutes of Health Stroke Scale score (OR 0.820, 95% CI 0.715-0.941;P=0.005) and higher fasting glucose (OR 0.610, 95% CI 0.410-0.906;P=0.014) were the independent predictors for poor outcome at 3 months after onset.ConclusionsThere are difference in the outcomes in patients with successful recanalization in anterior circulation stroke treated with mechanical thrombectomy.The outcome is substantially better in TICI 3 than TICI 2b patients.

OBJECTIVE: To explore the genetic basis for a child with café-au-lait macules and juvenile xanthogranuloma. METHODS: Clinical data and peripheral blood samples of the patient and her family members were collected and subjected to targeted capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: A deletional variant in exon 23 of the NF1 gene was detected in the proband. Sanger sequencing has verified it as a de novo variant, which was highly correlated with the clinical manifestations of the patient and her mother. The diagnosis of neurofibromatosis 1 (NF1) was established. The variant was unreported previously. CONCLUSION Targeted capture and next-generation sequencing combined with Sanger sequencing can facilitate early diagnosis of NF1 and provide a basis for the clinical treatment, genetic counseling and prenatal diagnosis.
Child ; Female ; Humans ; Cafe-au-Lait Spots/genetics* ; Genes, Neurofibromatosis 1 ; Neurofibromatosis 1/genetics* ; Xanthogranuloma, Juvenile/genetics*

Objective: To investigate factors influencing disease severity in children of Han nationality with atopic dermatitis (AD) in China, and to provide scientific evidences for prevention and treatment of AD in children. Methods: From November 2005 to May 2015, data were collected from AD children aged 0-12 years in Department of Dermatology, The First Affiliated Hospital of Anhui Medical University and AD sample collection collaboration network in China. Statistical analysis was carried out with SPSS16.0 software by using univariate and multivariate ordinal logistic regression analysis to investigate factors influencing the severity of AD. Results: A total of 2 620 children with AD were enrolled into the study, including 230 (8.8%) with mild AD, 1 379 (52.6%) with moderate AD and 1 011 (38.6%) with severe AD. As univariate analysis showed, factors influencing the severity of AD included region, early onset, itching during sweating, xeroderma, ichthyosis, palmar hyperlinearity, lichen pilaris, orbital darkening, scalp dermatitis and infra-auricular fissure (all P<0.01) . There were no significant differences in the severity of AD between different genders, patients with and without personal or family atopic history, or between patients with and without a high serum IgE level (all P > 0.05) . Multivariate ordinal logistic regression analysis showed that southern region (OR = 2.10, 95% CI: 1.76 - 2.51) , early onset (OR = 1.32, 95% CI: 1.01 - 1.71) , itching during sweating (OR = 1.70, 95% CI: 1.42 - 2.02) , xeroderma (OR = 2.57, 95% CI: 2.10 - 3.15) , ichthyosis (OR = 1.49, 95% CI: 1.19 - 1.87) , palmar hyperlinearity (OR = 2.03, 95% CI: 1.61 - 2.57) , lichen pilaris (OR = 1.44, 95% CI: 1.17 - 1.78) , orbital darkening (OR = 1.53, 95% CI: 1.24 - 1.89) , scalp dermatitis (OR = 2.38, 95% CI: 2.01 - 2.82) and infra-auricular fissure (OR = 1.55, 95% CI: 1.31 - 1.85) were positively correlated with the severity of AD (all P<0.05) . Conclusion The severity of AD is associated with patients′ region, early onset, itching during sweating, xeroderma, and other concomitant symptoms.

With the development of transcriptomic technologies such as gene chip technology and RNA sequencing technology, important related factors in the pathogenesis of atopic dermatitis (AD) have been gradually identified, such as different T helper (Th) cell subtypes and other immune-related cells (macrophages and Langerhans cells) ; abnormal changes in active substances such as interleukin-4, interleukin-13, fillagrin and loricrin released by immune-related cells such as Th2 cells and keratinocytes have been found to play major roles in pruritus and skin barrier damage in AD. In recent years, transcriptomic technologies have been applied to the analysis of changes in transcriptomic profiles of patients before and after treatment to evaluate patients′ condition and therapeutic effect. This review summarizes research progress in transcriptomics in AD in recent years.

Epidermal barrier defects and immune abnormalities are the main pathophysiological changes in the development of atopic dermatitis (AD) . Skin keratinocytes can release a variety of inflammatory factors and mediators under the treatment with various harmful factors. Three epithelium-derived cytokines interleukin (IL) -33, IL-25 and thymic stromal lymphopoietin are considered to be effective inducers of Th2 immune response in skin or mucosal barrier, which can activate immune cells, cause the secretion of Th2 cytokines, enhance the Th2 immune response, and participate in the occurrence and development of AD. This review focuses on the role of the above 3 epithelium-derived cytokines in the pathogenesis of AD.

Objective To investigate the prevalence of skin diseases in pre-school children aged 0-7 years in cities of China.Methods From November 2014 to April 2015,12 cities were chosen as survey spots,and pre-school children aged 0-7 years served as respondents.A population-based study was conducted,and 40 vaccination clinics and 80 kindergartens were selected by stratified random sampling.A questionnaire survey and dermatological examination were performed by trained dermatologists.Results A total of 20 033 pre-school children received questionnaires,whose age was 2.41 ± 1.82 years (range,0.08-6.83 years).Among these respondents,7 823 children were found to have skin diseases,with the total prevalence of skin diseases being 39.05％ (7 823/20 033).Additionally,the prevalence of skin diseases reported in the 12 cities from high to low was as follows:66.96％ (612/914,Dalian),56.73％ (2 310/4 072,Shanghai),55.49％ (556/1 002,Wuhan),49.18％ (390/793,Taiyuan),47.16％ (316/670,Chengdu),41.93 ％ (566/1 350,Nanjing),41.03％ (318/775,Chongqing),35.98％ (240/667,Hefei),33.87％ (677/1999,Shenzhen),31.37％ (554/1 766,Changsha),23.52％ (1 107/4 706,Beijing),13.42％ (177/1 319,Shenyang).Totally,40 kinds of skin diseases were investigated,and the 10 most common skin diseases were eczema/infantile eczema/atopic dermatitis (18.71％,3 749/20 033),ichthyosis vulgaris(6.25％,1 253/20 033),lichen pilaris (5.73％,1 148/20 033),diaper dermatitis (5.29％,1 059/20 033),papular urticaria(5.25％,1 052/20 033),hemangioma/vascular malformation (3.86％,774/20 033),pityriasis alba (3.45％,691/20 033),infectious skin diseases (2.59％,519/20 033),urticaria(1.71％,344/20 033)and contact dermatitis (0.5％,100/20 033).Conclusion The total prevalence of skin diseases among pre-school children in cities of China is 39.05％,and eczema/atopic dermatitis is the most common skin disease.

Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling pathway plays an important role in immune pathways in atopic dermatitis (AD) . Drugs that block the JAK-STAT signaling pathway, such as classic JAK inhibitors tofacitinib, ruxolitinib, etc., have been gradually applied to the treatment of AD in clinical trials, and good clinical efficacy has been achieved. In addition, other inhibitors of the JAK-STAT signaling pathway, such as apamin and dupilumab, also show some efficacy in the treatment of AD. This review summarizes recent studies on the JAK-STAT signaling pathway and its inhibitors.