Objective To study the pathological characteristics of skeletal muscle in patients with polymyalgia rheumatica(PMR).Methods Thirteen patients were diagnosed PMR according to the diagnostic criteria described by Bird in 1979.The onset of disease was between 49-78 years of age (median 60.3 years).All of them showed continuous symmetric myalgia with markedly elevated erythrocyte sedimentation rate(ESR).Five patients had mild fever and 8 patients had elevated C-reactive protein(CRP).Electromyogram(EMG)showed myogenic pattern in 2 patients.Only 1 patient showed anemia and 2 patients had mild elevated creatinine phosphokinase.None of them showed evidence of temporal arteritis.Biceps brachii muscle biopsies were performed in all patients before corticosteroid therapy.Results The typeⅡmuscle fiber atrophy was observed in all patients.Moth-eaten changes appeared in 8 cases,increased intramuscular lipid drops in 8 cases and ragged red fibers(RRF)in 3 cases of them.After steroid therapy,all patients showed improvement of myalgia and normal ESR as well as CRP.Conclusions The main symptoms of the patients are myalgia and abnormal ESR.Some patients have high level of CRP and abnormal EMG.Anemia and temporal arteritis are less frequent.The main myopathological changes were typeⅡmuscle fiber atrophy.Some patients have moth-eaten changes.More lipid drops and RRF indicate abnormal metabolism of skeletal muscle.

Objective To report the development of clinical symptoms in a Chinese family with autosomal dominant progressive external ophthalmoplegia(adPEO).Methods Electromyologram and muscle biopsy were performed in the proband and 4 family members with the disease.Results The proband was a 57 year-old woman,who developed bilateral ptosis after the age of 30,external ophthalmoplegia after the age of 35 years old,weakness of extremities at the age of 37 years old and bulb palsy with palmus at the age of 47 years old.In the family there were 20 male and female members from five generations.All of them complained about bilateral ptosis between 26—33 years old,external ophthalmoplegia(12/15)and weakness of all extremities(14/15)between 35—45,facial and masticatory weakness(9/9)as well as dysphagia(8/9)between 44—60,accompanied with heart lesions(4/7)after 50 years old.Some patients died due to cardiac impairment.Electromyologram showed myopathic abnormalities in the examined patients. The main myopathological changes were ragged red fibers,cytochrome c oxidase negative fibers and ragged blue fibers in succinate dehydrogenase staining.Conclusions The adPEO started from extra-ocular muscles to limbs,finally facial and bulbar muscles.Heart lesions were presented in late stage and lead to death in some members.The developing process of symptoms suggested that we should pay more attention to cardiac manifestations in this disease.

Objective To analysis the clinical manifestations of mtDNA A3243G mutation in adulthood.Methods The clinical features were investigated in 36 cases (28 patients from 5 families with the mutation and 8 sporadic cases),in whom mtDNA A3243G mutation was confirmed genetically in 23 cases (15 cases from 5 mutation families and 8 sporadic cases).Cranium radiology was performed in 14 cases.Muscal biopsies were performed in l0 cases.Results Among 28 cases in the 5 family,there were 9 cases (32.1%) with stroke like episodes,17 cases (60.7%) with diabetic mellitus and 16 cases (57.1%) with deafness.Such symptoms usually combined with each other and rarely existed alone. Cardiomyopathy and renal failure were uncommon.In the 23 cases with mtDNA A3243G mutation,14 cases (61.0%) had mitochondria] myopathy,encephalopathy,lactic acidosis,and stroke-like episodes (MELAS),mostly presenting cognitive abnormalities,dysarthria or aphasia and headache,3 cases (13.0%) were asymptomatic carriers,2 cases (8.7%) had autonomic dysfunction,2 cases (8.7%) had diabetic mellitus with or without nerve deafness,1 case (4.3%) had diabetic mellitus with infertilitas and cardiomyopathy,respectively.Cranial radiological images revealed the changes more commonly in the temporal and occipital lobes and less frequently in the frontal lobes.Ragged red fibers were confirmed in 9 of 10 cases with muscle biopsies.The proportion of mutant mtDNA A3243C was not significantly different between MEALS (28.75%?13.69%) and non-MELAS (25.08%?11.54%).Conclusions mtDNA A3243G mutation mainly results in the lesions in the central nerve system,pancreatic island and acoustic nerve in adulthood.Heart and kidney are less frequently involved.Cognitive abnormalities,aphasia and headache are the major symptoms of adult MELAS.Families have with more than 1 patient with diabetic mellitus and deafness,indicating that the mutation is other than MELAS mutation.We should pay more attention to the non-MELAS symptoms in the families with mtDNA A3243G mutation.

Objective To investigate the clinical and pathological characteristics of normotensive pheochromocytomas ( NP) . Methods This retrospective study included 97 patients with a pathological diagnosis of pheochromocytoma at the Drum Tower Hospital Affiliated to Nanjing University Medical School during January 2004 to December 2013. All available clinical, biochemical, and radiological records were reviewed in these patients who were then categorized into hypertensive pheochromocytomas (HP) (n=64) and NP (n=33) groups. 97 cases of Adrenal Gland Scale Score of pheochromocytoma were examined, including tissue microscopic pathology assessment, ki67 and phenylethanolamine-N-methyltransferase ( PNMT ) immunohistochemistry and catecholamine type. Biochemical examinations of 95 subjects with primary hypertension ( PH) were recorded for comparative study. Results The patients with NP showed lower proportion of clinical triad than HP, inapparent metabolic disorders, and lower urinary catecholamine levels than HP, but showed higher results than primary hypertension. The weight of tumor was positively correlated with 24 hour urinary norepinephrine level in patients with HP(Y=1. 376+0. 653X,R2=0. 118, P=0. 028), but not in patients with NP;and the size or diameter of the tumor was negatively correlated with PNMT immunohistochemistry in patients with NP(Y=0. 940-0. 356X, R2=0. 494, P=0. 005), but not in patients with HP, indicating that NP may be misdiagnosed clinically. Conclusion Patients with NP have distinct clinical, biochemical, and pathological phenotypes; the phenotypic changes are closely related with the expression levels of catecholamine pathway products during the occurrence and development of the tumors.

ADP Ribose Transferases ; chemistry ; pharmacology ; Animals ; Antineoplastic Agents ; pharmacology ; Bacterial Toxins ; chemistry ; pharmacology ; Exotoxins ; chemistry ; pharmacology ; Female ; HMGN2 Protein ; chemistry ; pharmacology ; HeLa Cells ; Humans ; Immunotoxins ; pharmacology ; Mice ; Mice, Inbred BALB C ; Protein Structure, Tertiary ; Recombinant Fusion Proteins ; biosynthesis ; pharmacology ; Virulence Factors ; chemistry ; pharmacology

Objective:To investigate the expression of Fas、FasL and the apoptosis of liver cancer cell line HepG2 transfected with LIGHT and IFN-? gene mediated by Cationic liposome.Methods:HepG2 cells were divided into two groups(the solo transfection of LIGHT gene and the combined transfection of LIGHT and IFN-? genes) and the control groups(no transfection).HepG2 cells were cellected at 12h,24h and 48h after transfection.The apoptosis of HepG2 cells and the expression of Fas and FasL of the HepG2 cells were investigated with flow cytometry.Results:After transfection,the apoptosis of HepG2 cells increased,and the apoptosis of combined transfection group was higher than the solo transfection of LIGHT(P

OBJECTIVETo assess the association of polymorphisms of PR domain containing 16 gene (PRDM16) with essential hypertension in ethnic Uygur population from Xinjiang, China.

METHODSFunctional regions of the PRDM16 gene were sequenced in 48 Uygur subjects with essential hypertension selected from 480 hypertensive patients and 819 normotensive controls. Representative variations were genotyped with TaqMan-PCR method. Association of variations of PRDM16 gene with hypertension was analyzed.

RESULTSFor the 4 genotyped representative variations (rs2236518, rs2282198, rs2493292 and rs870171), no significant difference in genotype distribution and allele frequencies has been found between the patient and control groups (P>0.05). By ANOVA analysis, none of the polymorphisms was significantly associated with systolic or diastolic blood pressure (P>0.05). Nor was significant difference in haplotypic frequencies between the two groups detected (P>0.05).

CONCLUSIONWe have found no association between the four polymorphisms (rs2236518, rs2282198, rs2493292 and rs870171) of the PRDM16 gene with essential hypertension in ethnic Uygur population from Xinjiang.

Asian Continental Ancestry Group ; genetics ; Blood Pressure ; genetics ; DNA-Binding Proteins ; genetics ; Essential Hypertension ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Hypertension ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Transcription Factors ; genetics

OBJECTIVETo obtain recombinant human interleukin 12 by genetic engineering, and to explore possibility of its clinical application in treatment of tumor and chronic hepatitis.

METHODSBicistronic expression vector P35-IRES-P40 was constructed for the simultaneous translation of IL-12 p35 and p40 cDNA subunit through internal ribosomal entry sites (IRES). pCI-dhfr-P35-IRES-P40 vector was constructed for expression in CHO-DHFR- cells. Positively cloned cells were screened by means of ELISA. Pools of clones with increased expression of IL-12 could be generated by selection in methotrexate. To determine the biological activities of rhIL-12, PHA-activated lymphoblasts proliferation assay and IFN-gamma induction assay were used in this study.

RESULTSGenetically engineered cells expressing hIl-12 were obtained and all the cell lines showed the stabile expression of rhIL-12 in high efficiency and good growth properties.

CONCLUSIONrhIL-12 have good biological activities, it can stimulate activation and proliferation of T cells and induce production of IFN-gamma.

Animals ; Blotting, Western ; CHO Cells ; Cell Proliferation ; drug effects ; Cricetinae ; Cricetulus ; Dose-Response Relationship, Drug ; Genetic Vectors ; genetics ; Humans ; Interleukin-12 ; biosynthesis ; genetics ; pharmacology ; Polymerase Chain Reaction ; Recombinant Proteins ; biosynthesis ; metabolism ; pharmacology ; T-Lymphocytes ; cytology ; drug effects ; Transfection

OBJECTIVETo detect the common mutations (D816V and N822K) of c-kit gene in acute myeloid leukemia (AML) using high-resolution melting analysis (HRM).

METHODSHRM analysis was established to screen c-kit mutations in PCR products of c-kit exon 17 in 21 AML patients with t(8;21). PCR products were sequenced to confirm the mutation.

RESULTSHRM analysis identified an aberrant melting curve in 6 cases (28.6%), which were confirmed by direct DNA sequencing as one D816V mutation and five N822K mutation.

CONCLUSIONHRM analysis is a convenient, rapid, specific and high-throughput technique for scanning c-kit gene mutation in AML.

Adolescent ; Adult ; Aged ; Child ; DNA Mutational Analysis ; methods ; Exons ; Female ; Humans ; Leukemia, Myeloid, Acute ; genetics ; Male ; Middle Aged ; Mutation ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; Proto-Oncogene Proteins c-kit ; genetics ; Young Adult

OBJECTIVETo investigate the relationship between the genetic polymorphisms of the six transmembrane protein of prostate 2 gene (STAMP2) and essential hypertension in Xinjiang Uygur population.

METHODSThe sequences of STAMP2 gene functional region were sequenced in Xinjiang Uygur population with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 2047 Uygur individuals, including 810 patients with hypertension and 1237 healthy subjects. The association of the genetic variations of the STAMP2 gene with hypertension in Uygur was analyzed.

RESULTSIn the three representative variations (rs8122, rs1981529 and rs34741656) genotyped, there were no significant differences in genotype distribution and allele frequencies between the essential hypertension and control groups (P > 0.05). In ANCOVA analysis, none of the polymorphisms was significantly associated with systolic blood pressure and diastolic blood pressure (P > 0.05). There were no significant differences in haplotype frequencies between the two groups either(P > 0.05).

CONCLUSIONThere was no association of the three polymorphisms (rs8122, rs1981529 and rs34741656) in the STAMP2 gene with essential hypertension in Xinjiang Uygur population.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Ethnic Groups ; genetics ; Female ; Humans ; Hypertension ; genetics ; Logistic Models ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Oxidoreductases ; genetics ; Polymorphism, Genetic