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.

Background and purpose:Urothelial carcinoma of the bladder (UCB) is the most common cancer in urinary system. Yes associated protein (YAP) gene is closely associated with urothelial carcinoma of the bladder. The study was aimed to explore the effect of siRNA targeting the YAP gene on cell proliferation and migration of T24 cells. Methods:Small interfering RNA (siRNA) was transfected together with LipofectamineTM2000 in T24 human bladder cancer cells to block the YAP signal pathway. The effect of siRNA on cell proliferation and invasiveness was assessed by cell counting kit-8 (CCK-8) assay, Transwell migration assay and wound healing assay. Quantitative real time-Polymerase chain reaction (qRT-PCR) and Western blot analysis were used to conifrm the successful suppression of YAP gene and protein by siRNA. Results:Expression of YAP gene and protein was successfully suppressed after transfected with siRNA which verified by qRT-PCR and Western blot(RNA:F=93.91, P<0.000 1; Protein: F=4.62, P<0.05). As CCK-8 test showed, the proliferation of T24 bladder cancer cells was successfully restrained by inhibition of YAP gene compared with blank control and negative control(12 h: F=6.00, P=0.037;24 h: F=41.72, P=0.000 3;36 h:F=462.8, P<0.000 1;48 h:F=236.6, P<0.000 1;72 h:F=140.5, P<0.000 1). Transwell and wound healing test were performed after YAP gene was interfered by siRNA. The result demonstrated that migration of T24 bladder cancer cells was signiifcantly inhibited (Transwell: F=43.55, P<0.05;Wound healing: F=43.55, P<0.05). Conclusion:This study suggested that YAP gene was an important enhancer for the proliferation and migration of bladder cancer cells.

Objective To observe effect of scalp acupuncture combined with cognitive rehabilitation training in ameliorating cognitive dysfunction in stroke patients. Methods Eighty-four stroke patients with cognitive dysfunction were randomly divided into a treatment group ( n = 42) and a control group (n = 42 ) . All of the patients in both groups received routine therapy including cognitive rehabilitation training by professional therapists aimed at improving their orientation, perception, attention and thinking. The patients in the treatment group also received prolonged scalp acupuncture, in which the acupuncture needle remained in the scalp for 6 hours. All cases were evaluated using Loewenstein's occupational therapy cognition assessment (LOTCA) before and 10 weeks after treatment. Results The LOTCA scores were significantly different before and after treatment in both groups. The effect in the treatment group was significantly better than in the control group. Conclusions Prolonged scalp acupuncture combined with cognitive rehabilitation training can significantly improve the cognitive ability of stroke patients.

OBJECTIVETo investigate how network education can improve college students' knowledge on sexual and reproductive health in Ningbo city.

METHODSFrom December 2012 to June 2013, we conducted a questionnaire investigation among college students in Ningbo city about the effects of network education on their knowledge about sexual psychology, sexual physiology, sexual ethics, and reproductive health.

RESULTSA total of 7 362 college students accomplished the investigation, of whom 2 483 (42.1% males and 57.9% females) received network education, while the other 4 879 (24.1% males and 75.9% females) did not. Approximately 47.1% of the male and 28.0% of the female students acquired sexual and reproductive knowledge via network education. Reproductive health-related network education significantly enriched the students' knowledge about the reproductive system and sex, pubertal development, sexual physiology, conception and embryonic development, methods of contraception, sexual psychology, sexually transmitted diseases and their prevention, pregnancy care and eugenics, and environment- and occupation-related reproductive health (P < 0.01). It also remarkably improved their cognitive attitude towards reproductive health knowledge (P < 0.01). Those who received reproductive health-related network education showed a significantly higher rate of masturbation (P < 0.01) but markedly later time of the first masturbation (P < 0.01) than those who did not.

CONCLUSIONNetwork education can enhance the effect of reproductive health education among college students and improve their sexual experience and health.

China ; Contraception ; Female ; Health Education ; Health Knowledge, Attitudes, Practice ; Humans ; Male ; Masturbation ; Pregnancy ; Reproduction ; Reproductive Health ; Sexual Behavior ; physiology ; psychology ; Sexually Transmitted Diseases ; Students ; Surveys and Questionnaires ; Universities

OBJECTIVETo extract two kinds of phenols 4-hydroxy-3, 5-dimethoxy-4-(2-oxopropyl) cyclohexa-2, 5-dien-l-one and 6-methoxy-5,7-dihydroxy coumarin (named as I and H compounds respectively) from Ajania salicifolia and to investigate their antioxidation and cytotoxicity to tumors and explore their pro-apoptosis mechanism.

METHODSThe antioxidant activities of two compounds were assessed by ABTS and DPPH radical-scavenging assays. Two compounds were evaluated for their cytotoxicity against human chronic myelogenous leukemia (K562) cells using the MIT assay. The expression of NF-kappaB P65 mRNA in K562 apoptotic cells was measured by reverse transcription-polymerase chain reaction (RT-PCR), real-time quantitative PCR. In addition, protein expression levels of the NF-ICB P65, p-Akt, Fas, P-catenina and E-cadherin were also measured by Western blot.

RESULTS(1) We found that compound I displayed significant inoxidizability, while compound II had no obvious antioxidizability. (2) In cytotoxicity experiments, compound I didn't display cytotoxicity while compound H displayed obvious cytotoxicity. (3) Compared with the blank group, the expression of NF-kappaB P65 mRNA in K562 cell after treatment with compound II was obviously up-regulated. (4) Compared with the blank group, the expression levels of NF-kappaB P65, Fas, beta-catenina and E-cadherin were significantly increased in compound II treated groups and it appeared obvious dose-effect relationship between the expression of protein and drug concentration.

CONCLUSIONTwo phenols have obvious antioxidizability and cytotoxicity respectively. On the one hand, the tumor-suppressing mechanism of compound II maybe act by up-regulation the expression of NF-kappaB P65 and Fas protein; thereby, affecting the classical Fas apoptosis signaling pathways. On the other hand, it can also up-regulate the expression of protein beta-catenin and E-cadherin, which participate in the adhesion between cells, and accordingly, playing an important role in preventing the proliferation and metastasis of cancer cells.

Apoptosis ; Asteraceae ; chemistry ; Cadherins ; metabolism ; Humans ; K562 Cells ; Oncogene Protein v-akt ; metabolism ; Phenols ; chemistry ; Signal Transduction ; Transcription Factor RelA ; metabolism ; Up-Regulation ; beta Catenin ; metabolism ; fas Receptor ; metabolism

Objective To investigate selcnium(Se) levels of environment and human body in Gaomi City and Zichuan District of Shandong. Methods Lijiaying Township in Gaomi City of Weifang City, Zhaili Township and Longquan Township in Zichuan District of Zibo City were selected. Two farming soil samples at different spot, local wheat and corn, residents nail samples from 3 to 4 families were collected in each natural village in the investigated towns. The contents of Se were detected by 2,3-diamino naphthalene fluorescence method. Results Se level of the soil, wheat, corn, and nails in Lijiaying [(0.054 ± 0.019), (0.022 ± 0.009), (0.018 ± 0.007), (0.365 ± 0.108)mg/kg] was significantly lower than that in Zhaili [(0.425 ± 0.080), (0.130 ± 0.043), (0.098 ± 0.026), (0.751 ± 0.134)mg/kg] and Longquan[(0.487 ± 0.153), (0.112 ± 0.030), (0.097 ± 0.029), (0.735 ± 0.145)mg/kg;P < 0.01]. In Lijiaying, Se was deficient in soil, wheat, corn(< 0.200, < 0.025 mg/kg), above Se deficiency diagnosis and below Se-adequate level in the nail, while in Zhaili and Longquan, the Se level in the soil (0.425, 0.487 mg/kg), wheat(0.130, 0.112 mg/kg), corn (0.098, 0.097 mg/kg), nails (0.751, 0.735 mg/kg) was adequate (≥0.400 mg/kg). Conclusions The external environment is Se-deficient in Lijiaying, Se-adequate in Longquan and Zhaili. The selenium level in human body is consistent with the external environment.

OBJECTIVETo explore the association between genetic polymorphisms of TGF-beta (TGF-beta) and susceptibility to pneumoconiosis.

METHODSOne hundred and seventeen patients with pneumoconiosis were selected as case. The control group was workers exposed to dust but without pneumoconiosis who had the same sex, nationality, and workshop or work site as case. The differences in the age and cumulative exposure time between the case and control group were not move than five years and two years, respectively. The case matched with the control according to 1:1. Polymerase chains reaction-restriction fragment length polymorphism was used to determine the frequencies of TGF-beta genes in the two groups.

RESULTSThe frequencies of this TGF-beta (-509) genotypes were CC (22.2%), CT (43.6%) and TT (34.2%) in cases, which was significantly different from the control group, respectively (OR = 1.390, P < 0.05). There was no significant difference for frequency of TGF-beta+869 genotypes and allelic between case and control (P > 0.05). The frequencies of the TGF-beta (+915) genotypes in case [GG (70.9%), GC (29.1%)] were significantly different from the control group (OR = 1.455, P < 0.05). The frequency of TGF-beta (+915) * C allele in the case and control was 14.5% and 8.5%, respectively (P < 0.05). The frequencies of carrying TGF-beta (-509) CC and (+915) GG genotypes were 12.8% and 29.9% in case and control. The frequencies of carrying TGF-beta (-509) * T and (+915) * C alleles were 9.8% and 5.1% in pneumoconiosis and control (P < 0.05).

CONCLUSIONSTGF-beta (-509)CC genotype may be the protective factor for the pneumoconiosis. TGF-beta (+915)GC genotype may be a susceptible factor for the pneumoconiosis. The workers of carrying TGF-beta (-509) * T and (+915) * C alleles are more susceptible to pneumoconiosis.

Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Pneumoconiosis ; genetics ; Polymorphism, Single Nucleotide ; Transforming Growth Factor beta1 ; genetics

OBJECTIVETo investigate the effects of peroral endoscopic myotomy(POEM) on esophageal dynamics in patients with esophageal achalasia.

METHODSFrom September 2011 to November 2011, 20 cases with esophageal achalasia received POEM at the Endoscopic Center in the Zhongshan Hospital of Fudan University. Pre-operation esophageal dynamics of all the patients were evaluated by high resolution manometry(HRM) system and 3 days after operation the test was repeated. Lower esophagus sphincter resting pressure(LESP), 4-second integrated relaxation pressure(4sIRP), lower esophagus sphincter relax rate(LESRR), lower esophagus sphincter length(LESL), and esophageal manometry were analyzed.

RESULTSAfter POEM, LESP decreased from(29.1±17.0) mm Hg to(14.6±4.9) mm Hg, and decrease rate was 49.8%(P<0.01). However, the decreases in LESRR and LESL were not statistically significant(P>0.05). Esophageal peristaltic contraction was absent in all the 20 patients preoperatively. After POEM, changes in the esophageal contraction were seen in 7 patients, and peristalsis was noticed but was below normal level. There were no significant changes in peristalsis in the remaining 13 patients.

CONCLUSIONPOEM can significantly reduce LESP and 4sIRP in patients with achalasia, but can not affect the contraction of the esophagus.

Adolescent ; Adult ; Aged ; Esophageal Achalasia ; physiopathology ; surgery ; Esophagoscopy ; methods ; Esophagus ; physiopathology ; surgery ; Female ; Humans ; Male ; Middle Aged ; Young Adult

OBJECTIVETo explore the effect and mechanism of tagalsin on hepatoma cells.

METHODSThe animal models were established by transplanting H(22) mouse hepatoma cells to mouse liver, and ten days later the mice were randomly divided into five groups: blank group, carmofur positive group and tagalsin groups, including low-dose, middle-dose and high-dose groups. Then medicine or oil was given to the mice by gastric gavage in consecutive 5 days with a 2-days interval as a course of treatment, two courses in all. All mice were killed at 24 hours after medication, and the survival period, ascites conditions, aggressive conditions intra- or extra-liver, weight changes, tumor volume and spleen index of the tumor-bearing mice were observed. Pathological changes of the tumors were examined. Apoptotic factors p53 and Bcl-2 protien and mRNA were detected by immunohistochemistry and reverse transcription polymerase chain reaction (RT-PCR).

RESULTStagalsin inhibited the hepatoma growth effectively without influencing spleen index to some extent. The tumor inhibition rate of tagalsin low, middle and high dose groups were 17.9%, 63.1% and 71.8%, respectively. Immunohistochemical results showed that the p53 and Bcl-2 protein positive cell counts of the positive control and experimental groups were significantly lower than those of the blank group (P < 0.01). RT-PCR results showed that the p53 mRNA expression was significantly enhanced and Bcl-2 mRNA expression was decreased in the positive control groups and tagalsin treatment groups, especially in the high dose group, compared with those of the blank group (P < 0.05).

CONCLUSIONStagalsin can inhibit the growth of mouse hepatoma cells significantly. The mechanism of its anti-tumor effect may work via up-regulating the wild type p53 gene expression and down-regulating Bcl-2 gene expression and thus regulating tumor cell apoptosis.

Animals ; Body Weight ; drug effects ; Carcinoma, Hepatocellular ; metabolism ; pathology ; Cell Line, Tumor ; Diterpenes ; pharmacology ; Dose-Response Relationship, Drug ; Drugs, Chinese Herbal ; pharmacology ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Liver Neoplasms ; metabolism ; pathology ; Mice ; Neoplasm Transplantation ; Plants, Medicinal ; chemistry ; Proto-Oncogene Proteins c-bcl-2 ; genetics ; metabolism ; RNA, Messenger ; metabolism ; Random Allocation ; Rhizophoraceae ; chemistry ; Tumor Suppressor Protein p53 ; genetics ; metabolism