Objective To summarize the clinical characteristics of patients with connective tissue diseases (CTD) and autonomic neuropathy. Methods The medical records of inpatients with CTD and autonomic neuropathy from 2005 to 2015 were retrospectively analyzed including clinical manifestations, laboratory examinations, treatment and outcome. Categorical data were expressed in percentages. Kolmogorov-Smirnov test was used to examine normal distribution. Continuous data of normal distribution were expressed as x ±s deviation, while data without a normal distribution were described as median and interquartile range (P25, P75). Results Among the nine patients included in this study, all were female, and the median age was 42 years (32~50 years old). Four patients (4/9) were systemic lupus erythematosus (SLE), three patients (3/9) were primary Sj?gren's syndrome (pSS), two patients (2/9) were rheumatic arthritis (RA), and four patients were secondary Sj?gren's syndrome (SS) (two with SLE and two with RA). Five patients (5/9) had autonomic nervous dysfunction before they were diagnosed of CTD, while four patients (4/9) developed autonomic nervous dysfunction after diagnosis of CTD. The most common symptom of autonomic nervous dysfunction was postural hypotension (9 patients, 9/9), followed by hypohidrosis (4 patients, 4/9), urinary retention (2 patients, 2/9), gastrointestinal dysmotility (2 patients, 2/9) and tonic pupil (1 patient, 11%). After treatment of CTD, autonomic symptoms of three patients improved, while the others didn't. Four of the remaining 6 patients improved after receiving other assistant treatments including vasoconstrictor, pyri-dostigmine bromide, and plasma exchange. Conclusion Patients with CTD could present with autonomic neuropathy, which is mainly characterized with postural hypotension. If patients had related symptoms, clinicians should pay more attention to whether CTD exists. If treatment for CTD couldn't improve patients' condition, other assistant treatment might be considered.

Objective To evaluate clinical application value of polymerase chain reaction (PCR) detection for bacteria in peritoneal dialysis associated peritonitis (PDAP).Methods Peritoneal dialysis fluid specimens were collected from January 2014 to December 2014 in The First Affiliated Hospital of Anhui Medical University.Conventional bacterial culture and PCR detection were used respectively.According to the bacterial 16S rRNA gene, universal primers were devised and designed, based on reference, the specific primers of 17 kinds of experimental bacteria.Real-time fluorescent PCR (Real-time PCR, qPCR) amplification was implemented.The establishment of standard strain DNA extract was used as positive control;sterile double distilled water was used as negative control.Results (1) The traditional bacterial culture results showed that positive proportion was 26/40 in specimen of 40 cases, gram-positive strains accounting for 18/26.Main species were epidermis staphylococcus (5/26), hemolysis staphylococcus (4/26), escherichia coli (4/26), and streptococcus viridans (3/26).(2) The PCR detection results showed that total positive rate was 33/40 in 40 patients specimens, among which 2 cases of positive samples ended up with no specific strains being detected;the main bacteria strains in PCR were not different from ordinary culture results.(3) With bacterial culture as the gold standard, the detection sensitivity of PCR technology for PDAP pathogenic bacteria was 96.15％ and specificity was 42.86％;the detection positive rate was significantly higher than ordinary culture method.(4) PCR technology for detecting pathogenic bacteria could produce results within 4-6 hours, while reported positive results in the traditional bacterial culture would take (77.88±15.53) hours, which was significantly longer than PCR.Conclusion Compared with traditional bacteria culture method, PCR method is more sensitive, simple, and quick.Bacteria detection using PCR technique is of clinic applied value in PDRP.

Objective To investigate the changes of major causes of death in patient with dermatomyositis/polymyositis (DM/PM) and the factors affecting the mortality of DM/PM in the past 28 years.Methods Death cases with DM/PM from 1985 to 2013 were retrospectively analyzed.x2 test and Fisher exact test was used for count data analysis;independent samples t-test measurement was used for data analysis;P＜0.05 was consi-dered statistically significant.Results Out of 1 443 patients with DM/PM, 74 died, in whom 48 were female and 26 were male.The mortality rate was 4.7％ among female and 6.3％ among male cases and the total in-hospital mortality of DM/PM was 5.1％.The two most common causes of death in patients with DM/PM were infection and respiratory involvement, accounting for 62.2％ (46/74) and 14.9％ (11/74) respectively.Death occurred most commonly in the first year after disease onset, accounting for 79.7％(59/74).The leading causes of death in the first year were infection and respiratory involvement.The mortality of DM/PM patients was peaked 12.3％(18/146) from 1996 to 2000;infection was the most frequent cause of death.Conclusion Infection and respiratory involvement are the main causes of death in DM/PM.Death occurrs most commonly in the first year after disease onset.

Objective To explore the prevalence and independent influencing factors of arthritis in Chinese patients with systemic sclerosis(SSc).Methods A total of 248 SSc patients were enrolled in this prospective cross-sectional study in Peking Union Medical College Hospital.Demographic,clinical and laboratory data were compared in arthritis group and non-arthritis group.Results Of 248 Chinese SSc patients,mean age of onset was (37.1 ± 13.7) years old and disease duration was (7.4 ± 5.2) years.Overall prevalence of arthritis was 41.1％ (102/248).The presence of arthralgia(95.1％ vs 15.1％),muscle weakness(38.2％ vs 24.7％),short of breath (60.8％ vs 45.2％),and intestinal lung disease (64.7％ vs 49.3％) occurred more frequently in patients with arthritis than those without arthritis (P ＜0.05).The elevation of C reactive protein,anti-Sm and anti-cyclic citrullinated peptide were more common in arthritis group than in non-arthritis group(61.4％ vs 43.9％,11.4％ vs 2.5％ and 28.1％ vs 2/16,respectively).There were no obvious differences in the Rodnan score,digital ulcers,pulmonary arterial hypertension,and six-minute walk test between two groups(P ＞ 0.05).Conclusion This study reveals the significant prevalence of arthritis in a large cohort of SSc patients in China.Compared to non-arthritis patients,the SSc patients with arthritis have a more severe inflammation reaction and a higher rate of intestinal lung disease.

Objective:To investigate the effects of Rad50-targeted inhibition on the radiosensitivity of head and neck squamous cell carcinoma cells.Methods:Rad50 in Tca8113 and OSCC-15 cells was down-regulated by siRNA.Then the cells were treated by a small dose of radiation(2 Gy),Western blot was used to detect the expression of Rad50 protein.Comet assay was used to evaluate the DNA double strand breaks(DSBs).Colony survival assay was performed to detect the survival rate of the cells.Telomere FISH was performed to assess the telomere length in the cells.Results:Target siRNA inhibited Rad50 protein expression in Tca8113 and OSCC-15 cells. siRNA combined with the radiation of 2 Gy produced more DSBs,decreased the proliferation and shortened the nucleus telomere length of the cells more than radiation treatment alone.Conclusion:The targeted inhibition of Rad50 may increase the radiosensitivity of Tca8113 and OSCC-15 cells.

OBJECTIVETo investigate the association of mutations and expression of MUS81 gene with the tumorigenesis and progression of laryngeal squamous cell carcinoma (LSCC).

METHODSPCR-SSCP and DNA sequencing were carried out to examine mutations at exons 9 and 10 of MUS81 gene in 42 LSCC samples, with paired adjacent normal laryngeal tissues (PANLs) as control. Semi-quantitative RT-PCR and Western blot were used to detect the expression of MUS81 gene in the specimens.

RESULTSNo mutation was detected in the control group. Among the 42 LSCC specimens, nineteen (45.2%) were found to harbor mutations, including 11(26.2%) occurring within exon 9, and 8 (19%) within exon 10. Seventeen (40.48%) samples showed lower mRNA level of the MUS81 gene (P<0.01), and same proportion of samples had lower protein level (P<0.01), suggesting that MUS81 gene was similarly down-regulated at both mRNA and protein levels in the LSCC samples. Furthermore, mutations of MUS81 gene did not significantly correlate with TNM stages, age and lymphoid node metastasis (P>0.05). Nor did the expression of MUS81 gene with the TNM stages, age and lymphoid node metastasis in LSCC (P>0.05).

CONCLUSIONMutations and abnormal expression of MUS81 gene in the LSCC tissues were observed, which suggested that abnormalities of MUS81 gene may play an important role in the tumorigenesis of LSCC.

Age Factors ; Base Sequence ; Carcinoma, Squamous Cell ; genetics ; pathology ; DNA-Binding Proteins ; genetics ; Endonucleases ; genetics ; Exons ; genetics ; Gene Expression Regulation, Neoplastic ; Humans ; Laryngeal Neoplasms ; genetics ; pathology ; Lymphatic Metastasis ; genetics ; Molecular Sequence Data ; Mutation ; Neoplasm Staging ; RNA, Messenger ; genetics ; metabolism

Objective:To evaluate the clinical value of surfactant protein-A (SP-A) in exudate pleural effusion (EPE).Methods:This clinical study was prospective,observational and cross-sectional.Two hundred and fifteen patients with pleural effusion were divided into the transudate pleural effusions (TPE) group and the EPE group.TPE patients served as the control group.The concentrations of pleural effusions SP-A (SP-Apl) and serum SP-A (SP-Ase) were measured by ELISA,and receiver operator characteristic (ROC) curve and multivarate Cox analysis of SP-A was analysed for its clinical value.Results:SP-Apl concentrations in the EPE group were significantly higher than that in the TPE group [(189.8±43.4) ng/mLvs (22.3±5.1) ng/mL,P＜0.01];SP-Ase concentrations in the EPE group were higher than that in the TPE group [(78.9±11.3) ng/mL vs (25.8±12.4) ng/mL,P＜0.05];SP-Apl concentrations were significantly higher than the concentrations of SP-Ase in the EPE group (P＜0.01).In EPE group,SP-Apl and SP-Ase concentration in the patients with primary lung adenocarcinomas were the highest.The cut off value of SP-Apl concentrations was more than 484.5 ng/mL,yielding a 85.4％ sensitivity and 95.2％ specificity for diagnosing primary lung adenocarcinomas,with an area under the curve (AUC) of 0.943 (95％ CI 0.852 to 0.934,P＜0.01);when SP-Ase concentration was more than 84.2 ng/mL,it yielded a 76.4％ sensitivity and 94.3％ specificity for diagnosing primary lung adenocarcinomas,with an AUC of 0.910 (95％ CI 0.921 to 0.953,P＜0.01).Conclusion:While SP-Apl concentration is more than 484.5 ng/mL and/or SP-Ase concentration is more than 84.2 ng/mL,it may be helpful for the diagnosis of primary lung adenocarcinomas with the usage ofpleural effusion.

Objective: The study aimed to investigate the diurnal variation in cervical disc hydration and its relationship with cervical degeneration. Materials and Methods: C3–C7 discs of 86 prospectively enrolled participants (37 males, 49 females; mean age ± standard deviation, 23.5 ± 2.5 years) were assessed using T2 mapping in the morning and evening. All discs were stratified by Miyazaki grade or C2–C7 Cobb angle and T2 values (T2). The degree of diurnal T2 variation (T2-DDV), defined as (morning T2 – evening T2)/morning T2 x 100%, was measured for the entire disc, annulus fibrosus (AF), nucleus pulposus (NP), and endplate zones. Results: T2 of the entire disc decreased significantly after the daytime load (p < 0.001), with a T2-DDV of 13.3% for all discs and 16.0%, 12.2%, and 13.0% for healthy (grade I), mild degenerative (grade II), and advanced degenerative (grade III/IV) discs, respectively. T2 of regional NPs and AFs decreased significantly from morning to evening (p ≤ 0.049) except in the healthy anterior inner AF (p = 0.092). Compared with healthy discs, mild degenerative discs displayed lower T2 and T2-DDV in regional NPs (p < 0.001). Advanced degenerative discs showed higher T2-DDV in the anterior inner AF compared with healthy discs (p = 0.050). Significant diurnal T2 changes in the endplate zones were observed only in healthy discs (p = 0.013). Cervical discs in the low Cobb angle group showed higher T2-DDV in the anterior AFs and anterior NP and lower T2-DDV in the posterior AF than those in the high Cobb angle group (p ≤ 0.041). Conclusion This study characterized the diurnal variation in hydration of the cervical discs as assessed using T2 mapping and revealed early chemo-mechanical coupling dysfunction in degenerating discs. Cervical sagittal alignment on MRI can affect the diurnal stress patterns of the cervical discs. T2 mapping is sensitive to disc biomechanical dysfunction and offers translational potential from biomechanical research to clinical application.

Objective: This study is to repair nostril sill deformity in the cleft lip patients by reconstructing the first auxiliary muscle tension line group and to assess the therapeutic outcome. Methods: 437 cleft lip patients with nostril sill deformity underwent the surgery from January 1, 2012 to November 1, 2016.They were treated using the technique of first auxiliary muscle tension line group reconstruction to repair the deformity. Aesthetic correction evaluations were rated by the GAIS. Random digit was used to randomly select 24 patients during the follow-up for three-dimensional measurement and analysis. The preoperative and postoperative symmetry of the nostril sills were evaluated by paired t test. Results: Mucosal ischemia or wound infection occurred in 11 cases, left obvious scar on the nostril floor. Surgical incisions of the other patients were primary healing. After 6 months to 3 years follow up, GAIS questionnaires of 378 patients demonstrated that 84% patients reported great or moderate improvement of nostril sills. Three-dimensional measurements of 24 patients suggested that there were no significant differences of the nostril sill and the nasal ala between the cleft side and the normal side. Conclusions First auxiliary tension line group reconstruction, which is to restore biomechanical balance rather than merely increase muscle volume, is an effective method of nostril sill repair in the cleft lip patients. Post-operatively, the patients achieved a stable and natural nostril sill, a middle columella, as well as a narrowed nasal ala.

Objective To investigate the value of texture analysis based on MR ADC map of prostate in differentiating between low?grade and high?grade prostate cancer (PCa). Methods PCa confirmed by pathology after radical prostatectomy were analyzed retrospectively, all patients underwent multiparametric MRI before radical prostatectomy, including T1WI,T2WI and DWI. On the ADC map, ROI was drawn manually to encompass the whole tumor by ITK?SNAP software. The python?based pyradiomics package was used to extract 105 texture features. The intraclass correlation coefficient was used to evaluate the repeatability of the texture features. The independent sample t test or Mann?Whitney U test was used to exclude features that had no significant difference between low grade and high grade PCa. Lasso regression model and 5 fold cross validation method were used to obtain texture feature combination of the highest performance and develop a classification modelfor discriminating low from high grade PCa. ROC curve was used to evaluate the diagnostic efficiency of the model. Result Ninety patients with PCa confirmed by pathology after radical prostatectomywere analyzed retrospectively,including 36 patients with low?level PCa (GS≤3+4) and 54 patients with high?level PCa (GS≥4+3). The area under curve of the model was 0.841, with sensitivity 69.6% and specificity 91.2%, which was significantly higher than single texture feature or traditional mean ADC value. Conclusion Texture analysis based on MRI?ADC map of prostate could be used to discriminate low grade PCa from high grade PCa.