Objective To study the prognosis of polymyositis(PM) and dermatomyositis(DM) patients and its influence factors.Methods Sixty DM and 30 PM patients diagnosed according to the diagnostic criteria of Bohan and Peter in our hospital during 2000-2008 were used as study subjects.The patients were followed up till their death or to August 2009.Gender,age of disease onset,disease course,serum creatine kinase,interstitial lung disease,heart involvement,connective tissue disease(CTD),malignancies,and treatment with corticosteroids,immunoglobulin and immunosuppressive agents were assessed as predictive factors for the prognosis of patients.Characteristics of muscular biopsy from 20 cases were analyzed.Results The median age of the 90 patients(29 males and 61 females) was 51 years(range 6-74 years).The male and female ratio was 1∶2.The most commonly involved muscles were the proximal muscles of limbs(83.3%),followed by neck muscles(25.6%),laryngea pharyngeal muscles(12.2%) and masticatory muscles(2.2%).Among the 42 patients(46.7%)with lung disease,interstitial lung disease and hear involvement were found in 29(32.2%)and 13(14.4%)patients,respectively.Of the 13 patients complicated by connective tissue disease,DM and PM accompanying connective tissue disease were diagnosed in 9 and 4,respectively,and DM and PM accompanying malignancies were observed in 2 patients.Muscular or skin biopsy was performed for 23 patients,which showed typical inflammatory infiltration in 13,dermatomyositis in 3,and no significant lesion in 2 patients,respectively.Of the 18 patients who died during the follow-up,5(16.67%) and 13(21.67%) died of PM and DM,respectively.Seventy-two patients survived.Their 1-,5-,and 9-year survival rate was 90%,84.4%,and 80%,respectively.The complete and partial remission rate was 22.2% and 36.7%,respectively,with a relapse rate of 20%.Advanced age of disease onset(P=0.003 8),interstitial lung disease(P=0.011 3) and malignancies(P=0.004 9) were main causes of death.Malignancy(RR=6.34,P=0.001 2)was the factor for poor prognosis and long-term treatment with hormones and immunosuppressive agents is the protective factor for PM and DM.Conclusion Complete and partial remission can be achieved in 58.9% patients with DM and PM.Advanced age of disease onset,interstitial lung disease and malignancy are the factors for poor prognosis of such patients.Long-term treatment with corticosteroids and immunosuppressive agents are the protective factors.

Objective: To study the etiology, clinical manifestation, diagnosis, treatment and precaution of pulmonary embolism following major surgery of gastrointestinal malignant tumors. Methods: Thirty-two cases of pulmonary embolism following major surgery of gastrointestinal malignant tumors were analyzed retrospectively. Results: The most common clinical manifestations were dyspnea, thoracodynia and palpitation. The D-dimer of all cases was positive. The examination of pulmonary arteriography by spiral computed tomography might assist the diagnosis of the disease. Twenty-two patients were discharged through the treatment of oxygen therapy and anticoagulation. Six patients recovered through the treatment of assisted respiration by respirator, thrombolysis and anticoagulation. Four patients died of respiratory failure. Conclusion: The operation of gastrointestinal malignant tumors can increase the incidence of pulmonary embolism. Arteriography by spiral computed tomography and D-dimer can assist the diagnosis and thrombolysis and anticoagulation were effectivel for the treatment.

Objective Wegener's granulomatosis is a rare multisystem vasculitis of unknown aetiology. The clinical features of the disease,the treatment and long-term follow-up is observed in this study.Methods Eleven WG patients were from Rheumatology Department of Guangdong Province People's Hospital between 1999—2005.Data were obtained retrospectively.The patients' clinical manifestation and laboratory results were studied.Results All patients had upper and lower respiratory tracts involvement.The upper respiratory tract(nose,sinus,throat,trachea,and middle ear)-(E)lung(L),and kidneys(K)were the most commonly in- volved organs.The majority of patient received i.v.puls methylprednisolone 0.5 g/d?3 d,followed by oral pred- nisone 1 mg.kg~(-1).d~(-1)and i.v.pulses of cyclophosphamide 750 mg/m~2.The long-term outcome was good. Conclusion Wegner's granulomatosis is a systemic vasculitis occurring in patients with histopathologic mani- festation of necrotizing vasculitis with granuloma formation.Corticosteroid and immunosuppressive treatment may achieve good outcome.

OBJECTIVETo investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).

METHODSFive patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also examined for GNE gene mutations.

RESULTSAll the patients were identified to have different GNE gene mutations: Cases 1-4 had complex heterozygous mutations and case 5 had homozygous mutation. Six reported mutations had been identified, including 1 nonsense mutation (p.R8X) and 5 missense mutations (p.D176V, p.I298T, p.A591T, P.A631V, and p.V696M). A novel mutation (c.317T>C, p.I106T) was identified in case 2.

CONCLUSIONThis is the first report of p.R8X, p.I298T, p.A591T and p.V696M mutations in GNE gene in Chinese population, and a novel mutation p.I106T was identified. These findings further expand the clinical and genetic spectrum of DMRV in China.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; DNA Mutational Analysis ; Distal Myopathies ; enzymology ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Multienzyme Complexes ; genetics ; Mutation ; genetics ; Mutation, Missense ; genetics ; Young Adult

The purpose of this study was to evaluate the effect and safety of Jinlong capsule combined with chemotherapy or radio-therapy for non-small cell lung cancer (NSCLS) using Meta-analysis. PubMed, Embase, CNKI and Wanfang databases were all searched without language restriction, and searching time was from January 1990 to July 2015. All eligible published studies were included in this study for quality assessment and data extraction. All the data were analyzed using Revman 5.3. A total of ten studies including 736 subjects (370 in Jinlong capsule plus chemoradiotherapy and 366 in chemoradiotherapy only) were finally included in this Meta-analysis. The result of Meta analysis showed that compared with pure chemoradiotherapy group, Jinlong capsule combined with chemoradiotherapy for NSCLC could improve the patients' curative effect (OR = 1.77, 95% CI: 1.29-2.43, P < 0.05), clinical benefit rate (OR = 1.89, 95% CI: 1.22-2.91, P < 0.05), life quality improvement rate (OR = 2. 56, 95% CI: 1.61-4.05, P < 0.05), and decrease leucopenia incidence rate (OR = 0.35, 95% CI: 0. 22-0.56, P < 0.05) and gastrointestinal reaction rate (OR = 0.67, 95% CI: 0.40-1.11, P < 0.05). The pooled results showed that Jinlong capsule combined with chemoradiotherapy for NSCLC could improve the curative effect and life quality, and decrease the adverse reaction of patients.
Antineoplastic Combined Chemotherapy Protocols ; administration & dosage ; Capsules ; administration & dosage ; Carcinoma, Non-Small-Cell Lung ; drug therapy ; radiotherapy ; Chemoradiotherapy ; Combined Modality Therapy ; Drugs, Chinese Herbal ; administration & dosage ; Humans ; Lung Neoplasms ; drug therapy ; radiotherapy

Objective:The major aim of this study is to analyze the point mutation at the codon 54th of MBL in healthy North Huis,and to measure the plasma levels of MBL, and to analyze the association between the mutation frequency and plasma MBL concentrations.Methods:PCR-RFLP was used to detect MBL point mutation.MBL plasma concentrations were measured using MBL Oliger ELISA kit.Results:Frequency of point mutation at the codon 54th of MBL in healthy Huis was 0.15. The plasma MBL concentration was (3.40?2.55)mg/L. There was negative correlation between MBL concentrations and gene mutation frequency in huis(r=-0.67).Conclusion:The relationship between frequency of mutation at codon 54 of MBL gene and the plasma MBL concentrations in healthy Huis is negative correlation.

Objectives To study the molecular genetics of Niemann-Pick's disease (NPD), and its implication in the diagnosis of NPD. Methods The clinical data and blood samples of three unrelated families were collected. The genomic DNA was extracted from peripheral blood. The six coding exons and their lfanking intronic sequences of SMPD1 gene in all members of three pedigrees were ampliifed by polymerase chain reaction (PCR). The SMPD1 gene sequencing results were compared with the normal sequence from Genbank to identify possible causative mutations. The ampliifcation products of exons where mutations were located were cloned into TA vector for further conifrmation. Results Family 1 proband had homozygous T107C mutation and the parents had heterozygous T107C mutation. The homozygous delete mutation (c.108-113delGCTGGC) was detected and conifrmed by TA cloning in all members of family 2 and 3. The 20 normal control members did not have this delete mutation. Conclusions The genetic basis of NPD in the proband of family 1 is the homozygous T107C mutation in SMPD1 gene, while parents in family 1 are carriers of recessive T107C mutation. The homozygous mutation c.108-113delGCTGGC exists in SMPD1 gene in all members of the family 2 and 3. This delete mutation is considered to be genetic polymorphism.

Objective To evaluate the frequency of mutations that occur in PHEX,FGF - 23 and DMP - I genes associated with familial hypophosphatemic vitamin D resistant rickets among 6 patients from 4 families in China. Methods The peripheral blood samples from 4 families were collected and other 10 persons from different families were selected as normal controls,and then the total gene DNA was extracted from the whole blood. Using polymerase chain reaction(PCR)amplication,sequences of the exons and flanking zones in PHEX,FGF - 23 and DMP - I genes were sequenced by direct DNA sequencing and TA cloning,and then the mutations found were analyzed. Results In exon 6 of DMP - I gene,c1218 C ﹥ T and c1230 G ﹥ A mutations were detected in lineage 1,as same sense mutation (propositus and its sister:homozygous mutation;mother:heterozygous mutation);c1333 - 1334 GC ﹥ TT mutation,as missense mutation,was found in exon 12 of PHEX gene on the propositus of lineage 2,determined as heterozygous muta-tion,but the same mutation was not found from their parents. In exon 3 of FGF - 23 gene,c716 C ﹥ T,p. T239M hetero-zygous mutation was found on the propositus and its mother. In exon 6 of the DMP - I gene,c205 A ﹥ T homozygous mutation was detected in lineage 3. In lineage 3,c716 C ﹥ T mutation of the FGF - 23 gene was detected,and the pro-positus and their father had the same mutation. No disease causing mutations of the PHEX,FGF - 23 and DMP - I genes were detected in the family members of lineage 1,3 and 4. Conclusions The mutation c1333 - 1334 GC ﹥ TT detected in exon 12 of PHEX gene might be the cause of disease for the propositus of lineage 2,as missense mutation, which needs further verification;c716 C ﹥ T,p. T239M mutation of the FGF - 23 gene detected in lineage 2 and 3 might not be the causes of the hypophosphatemic rickets and abnormal phenotype.

Objective To explore the effects of overexpression of hypoxia inducible factor 1? (HIF 1?) mRNA on vascular endothelial growth factor (VEGF) and novoendotheliasis in venous autografts Methods Wistar rats were randomly divided into two groups with 28 rats in each group A rat experimental model of autogenous vein graft was established by transplanting the right external jugular vein into between the interrupted right common carotid artery The transplanted vein in the experimental group was first immersed into a solution containing recombinant adeno associated virus (rAAV) HIF 1? for 45 minutes Vein grafts and blood simples were taken at 7 or 14 days after transplantation RT PCR, ELISA, immunohistochemistry were used to detected HIF 1? mRNA and VEGF expression Results HIF 1? mRNA and VEGF protein remarkably increased in experimental group, and serum level of E selectin significantly decraesed at day 14 The novoendotheliasis and myo endothelium junction in vein grafts were remodeled at day 14 in the experimental group Conclusion Re establishment of the structure and function of the autograft vein graft endothelium was accelerated by overexpressed HIF 1? mRNA