Objective To detect NRAS gene mutations in patients with acral melanoma, and to analyze their relationship with the prognosis of acral melanoma. Methods Clinical and pathological data were collected from 55 patients with pathologically diagnosed acral melanoma. DNA was extracted from paraffin?embedded specimens from lesions of the 55 patients and 15 patients with nevus. PCR and direct DNA sequencing were performed to detect NRAS gene mutations. Univariate and multivariate analyses were performed using the Cox′s proportional hazards regression model. Results Of the 55 patients, 6(10.9%)carried the Q61R mutation in codon 61 of the NRAS gene. No mutations were found in exon 1 or 2 of the NRAS gene in any of these paraffin?embedded specimens, and none of the pigmented nevus specimens harbored NRAS gene mutations. Of the 6 patients carrying NRAS gene mutations, 4 had lymph node metastasis. Multivariate Cox regression analysis showed that independent factors of poor prognosis included advanced clinical stage(RR = 2.54, 95% CI: 1.062- 6.066, P < 0.05), not receiving surgical resection(RR = 2.98, 95% CI:1.316- 3.525, P < 0.05), and carrying NRAS gene mutations (RR = 2.73, 95% CI: 0.932- 3.257, P < 0.05). Conclusions NRAS gene mutations may be associated with lymph node metastasis in patients with acral melanoma. The prognosis of acral melanoma may be associated with clinical staging, treatment strategies and NRAS gene mutations. Additionally, NRAS gene mutations may serve as a new index for predicting prognosis of acral melanoma.

Objective To investigate the clinical features and genetic mutations of spinocerebellar ataxia type 17 (SCA17).Methods The pathological CAG triplet repeat expansions of the SCA3,SCA1,SCA2,SCA6,SCA7,SCA8,SCA12,SCA17 and dentatorubral pallidoluysian atrophy genes were analyzed in 708 probands of autosomal dominant familial SCA and 1 19 sporadic SCA cases.The CAG repeats of TATA-binding protein (TBP) gene were amplified by means of polymerase chain reaction and agarose gel electrophoresis.For the samples with two alleles,fragment analysis based on CEQ8000 sequencer was applied to analyze the CAG repeat numbers.Furthermore,the correlation between clinical features and CAG repeat in the TBP gene was studied carefully.Results The expanded CAG repeats in the TBP gene was detected in 5 cases with 37/50,36/45,38/52,38/53,36/54 separately.And the main clinical manifestations were ataxia and memory impairment.Conclusion These findings indicate that SCA17 might be a rare subtype of SCA in the Chinese population and the clinical features of SCA17 cover a wider spectrum than previously reviewed.

Objective To investigate the relationship of c-myc protein expression in skin hemangioma of infant with different stage,cell proliferative activity and apoptos is.Methods Proliferating cell nudear antigen(PCNA) and c-myc were detected by immunohistoc hemical staining,and apoptosis was detected using in situ cell death detection( TUNEL method) in 58 skin hemangioma specimens of infant.Results Among the 58 hemangiomas,the positive rate of c-myc protein was significantly higher in involuting hemangiomas than that in proliferative hemangiomas(P

Endoscopic activity has been used as an endpoint in treatment of Crohn's disease (CD).Simplified Endoscopic Score for Crohn's Disease (SES-CD) is a simple and easy-to-use endoscopic scoring system for CD, however, studies evaluating the correlation between SES-CD and noninvasive inflammatory markers are scarce.Aims: To investigate the correlation between SES-CD and clinical and laboratory inflammatory markers for identifying a noninvasive surrogate marker for endoscopic activity of CD.Methods: Forty-two patients with CD were enrolled for detecting laboratory inflammatory markers including leukocyte and platelet count, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), hemoglobin (Hb), albumin (Alb) and fecal calprotectin (FC);SES-CD and Crohn' disease activity index (CDAI) were assessed.Predictive performance of these markers for endoscopic activity of CD was analyzed by ROC curve, and the correlation of SES-CD with all these markers was evaluated.Results: The platelet count, CRP, ESR, FC and SES-CD were significantly higher in active CD than in inactive CD, while Hb and Alb were significantly lower in active CD (P all <0.05).In all the noninvasive markers, only CDAI and FC had an area under the curve (AUC) greater than 0.9 for predicting CD endoscopic activity.Taken 150 as the cut-off value of CDAI and 50 μg/g (the upper limit of normal, ULN) as the cut-off value of FC, the sensitivity of CDAI and FC were 58.8% and 100%, and the specificity were 100% and 60.0%, respectively.SES-CD had moderate correlation with CDAI, platelet count, CRP, ESR, Alb and FC, respectively (P all <0.05).Conclusions: SES-CD is correlated moderately with the clinical and laboratory inflammatory markers, however, when taken the ULN as cut-off value the conventional inflammatory markers such as CDAI, CRP and ESR are hard to predict sensitively and accurately the endoscopic activity of CD;while FC has fairly high accuracy and sensitivity and can be used as a noninvasive surrogate marker for evaluating endoscopic activity of CD.

Objective To detect the expression of BRAF V600E mutant protein in cutaneous malignant melanoma (CMM),and to evaluate the sensitivity and specificity of immunohistochemistry (IHC) in detecting BRAF V600E mutation.Methods IHC with an anti-BRAF V600E monoclonal antibody was performed to detect the expression of BRAF V600E mutant protein in paraffin-embedded tissue sections from 103 patients with CMM and 40 patients with nevus.Statistical analysis was carried out with SPSS software version 17.0,and the expression rate of BRAF V600E mutant protein was compared by chi-square test.Results The expression rate of BRAF V600E mutant protein in the CMM patients was 20.4％ (21/103),significantly higher than that in the nevus patients (5.0％ (2/40),x2 =5.06,P ＜ 0.05).Significant differences were observed in the expression rate of BRAF V600E mutant protein between CMM patients of different age groups (29.8％ (14/47) in patients aged ＜ 60 years vs.12.5％ (7/56) in those aged ≥ 60 years,P ＜ 0.05) and nationality (30.2％ (13/43) for Uygur nationality vs.13.3％ (8/60) for Han nationality,P ＜ 0.05),as well as among CMM lesions from different anatomical sites (13.6％ (6/42) in acral sites vs.11.8％ (4/29) in mucous membrane vs.45.8％ (11/32) in non-acral sites,P ＜ 0.05) and of different Clark levels (8.6％ (4/42) for grade Ⅰ-Ⅲ vs.12.4％ (17/61) for grade Ⅳ-Ⅴ,P＜ 0.05),but not between male and female CMM patients or between CMM patients with lymph node metastasis and those without (both P ＞ 0.05).IHC with the anti-BRAF V600E antibody showed a sensitivity of 100％ (15/15) and a specificity of 98.5％ (65/66) in detecting BRAF V600E mutation.Conclusions The expression of BRAF V600E mutant protein is up-regulated in CMM lesions,and CMM patients of Uygur nationality seems to have a higher expression rate than those of Han nationality.IHC appears to be an accurate and rapid method to detect V600E BRAF mutation.

Objective Magnetic resonance diffusion tensor imaging (DTI) was applied to study the cantral auditong pathway in patients with .Methods A total of 30 cases of acquired hearing loss patients were divided into 2 groups ,group 1 (15 ,sudden deafness) and group 2 (15 ,with duration up to 2 years SNHL group from the time of onset) .A total of 15 cases of normal-hearing patients on MRI examination were selected as the control group for the same period .All subjects received DTI of whole brain .The values of the whole brain DTI were obtained from the inferior colliculus and lateral lemniscus ,consisting of the fractional anisotropy (FA) ,radial diffusion (RD) ,axi‐al dispersion (AD) and mean diffusivity .Results There were significant differences(P<0 .05) in FA of bilateral in‐ferior colliculus among sudden deafness group ,SNHL of 2 -year -history group and the control group by ANO‐VA .FA of inferior colliculus in the control group was higher than that of in the SNHL group ,but lower than that of in the sudden deafness group .RD of lateral lemniscus in the SNHL group was higher than that of in the sudden deafness group(P<0 .05) ,MD of lateral lemniscus in the sudden deafness group was higher among the other 2 groups ,and there were signigicant(P<0 .05) .For AD of the inferior colliculug and lateral lemniscus ,there were no differ‐ences among the 3 groups (P>0 .05) .Conclusion There was no obviously abnormal change on the central auditory processing in sudden deafness group ,but significant destruction was found on 2 years SNHL group .It indicated that central auditory processing of the history of sensorineural deafness affected the structural changes of the central au‐ditory pathway .

Using the large scale sequencing, a novel human cDNA of 1,645 bp was screened from the cDNA library of human fetal brain. The cDNA contains an ORF encoding a 296-aa protein with a calculated molecular weight of 34.0 KD. Compared with that of current sequence databases, the putative protein was found to have 36% homology with protein-disulfide isomerase (PDI). So this cDNA was named PDI like (PDI-L) gene. Multiple tissue Northern blot analysis shows that PDI-L cDNA is expressed in heart, brain, liver, kidneys and so on. The ORF fragment of PDI-L cDNA was inserted into reconstructed pBV220 expression vehicle and its predicted expressive protein was obtained.
Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; DNA, Complementary ; genetics ; Gene Library ; Humans ; Protein Disulfide-Isomerases ; biosynthesis ; genetics

Objective To assess the relationship between BRAF gene mutations and clinical phenotype of malignant melanoma.Methods Tissue specimens were collected from the lesions of 80 patients with malignant melanoma,and from the normal skin of 30 patients with trauma in the Department of Plastic Surgery or General Surgery,and subjected to paraffin embedding and DNA extraction.PCR was performed to amplify the exon 11 and 15 of BRAF gene followed by DNA sequencing.Chi-square test and Fisher's exact test were carried out to assess the relationship between BRAF gene mutations and clinical phenotypes of malignant melanoma.Results BRAF gene mutations were found in 19 (23.8％) of the 80 malignant melanoma specimens.Among the 19 mutationpositive specimens,17 (88.2％) carried mutations in exon 15 of BRAF gene with V600E as the most frequent (88.2％,15/17) mutation type,and 2 (10.5％) carried mutations in exon 11.No mutation was found in any of the normal skin tissue specimens.The average age at onset was 57.5 years in these patients.The frequency of BRAF gene mutation was significantly higher in patients younger than 60 years than in those older than 60 years (37.1％ vs.13.3％,x2=6.613,P ＜ 0.05).A significant difference was observed in the frequency of BRAF gene mutation among tissue specimens of mueosal,acral and non-aeral malignant melanoma (18.2％ (4/21) vs.14.7％(5/34) vs.41.7％ (10/24),x2=6.167,P ＜ 0.05).There was no significant association between BRAF gene mutation and gender,race or lymph node metastasis (all P ＞ 0.05).Conclusions BRAF gene is a hot spot for mutations in patients with malignant melanoma in Xinjiang Uygur Autonomous Region,with V600E point mutation in exon 15 as the most frequent mutation type.BRAF gene mutations appear to be closely correlated with the age at onset of and lesional sites in,but uncorrelated with gender and race of or lymph node metastasis in,patients with malignant melanoma.

Objective To establish a method for comprehensive quality evaluation of Tongjing ointment by multi-component quantification combined with chemometrics and grey correlation analysis(GRA).Methods With curcumin as the internal reference substance,HPLC-QAMS method was used to simultaneously determine the contents of limonin,evodiamine,rutaecarpine,bisdemethoxycurcumin,demethoxycurcumin,curcumin,6-gingerol,8-gingerol,10-gingerol,tetrahydropalmatine,dehydrocorydalin,dorydaline in Tongjing ointment.The quality of Tongjing ointment was evaluated by cluster analysis,principal component analysis,orthogonal partial least square discriminant analysis and GRA.Results The determination of 12 components manifested a good linear relationship in the range of mass concentration(r≥0.999 1).The average recovery was between 96.58％and 100.19％(RSD＜2.0％,n=9).There were no significant difference between the measured value of external standard method and the calculated value of HPLC-QAMS(P＞0.05).Tongjing ointment samples were classified into three eategories by chemometrics and it showed that curcumin,6-gingerol,bisdemethoxycurcumin,demethoxycurcumin,limonin and tetrahydropalmatine were the main potential markers affecting the quality of Tongjing ointment.GRA showed that the relative correlation degree was in the range of 0.317 3-0.624 8,and there were some differences in the quality of Tongjing ointment.Conclusion The established method can comprehensively evaluate the quality of Tongjing ointment.

Since the outbreak of Novel Coronavirus Pneumonia(NCP), hospitals have taken the fight against the virus as its own responsibility, and keep standing in the front line of epidemic prevention and control. The continuous input of anti-epidemic forces in hospitals also brings challenges to the medical supplies support, including the management of protective supplies and the maintenance of medical equipment. In the face of increasing security pressure, the medical materials support team broke the game on multiple fronts. Firstly, the team implements active material procurement strategy, sets material distribution priority according to risk level, releases materials uniformly based on stock and use, and implements traceability management of donated materials to ensure material supply. Secondly, centralized allocation management of equipment, emergency installation, advanced maintenance and emergency maintenance work is effectively completed. Thirdly, disinfection strategies for items and equipment are developed safely and effectively with the aid of disinfection equipment functions. At last, personnel management and training have been strengthened. These measures have provided strong support for the orderly prevention and control of the epidemic.