Andersen Syndrome/genetics* ; Humans ; Syncope ; Tachycardia, Ventricular

ObjectiveTo observe the hong-huang antioxidant on oxidative stress in patients with breast cancer during chemotherapy, including their related blood indexes, blood rheology changes, and the effects on TCM clinical symptoms and symptoms of stress.MethodsA total of 60 cases of breast cancer patients during chemotherapy from Jiangsu Province Hospital of TCM was randomly divided into treatment group and control group, 30 cases in each group. On the basis of conventional therapy, patients in treatment group were given hong-huang antioxidant (100 mL per bag) from the 1st day to the 14th day of chemotherapy, 2 bags for each day (morning and evening). Patients in control group were given foundation treatment the same as the treatment group. Patients in the two groups had their serum NO, the content of SOD, and blood rheology tested on the day before chemotherapy, and the 4th, 7th, 14th days during chemotherapy. Meanwhile, their symptom score and the integral of stress reaction and TCM symptoms were also assessed. ResultsOn the 4th day, serum NO of treatment group decreased, while SOD content increased,without statistical significance between the two groups (P>0.05). Serum NO on the 7th, 14th days was significantly lower than that in the control group, but the content of SOD was higher than that in the control group, with statistical significance between the two groups (P<0.05). Hemorheology on the 4th day significantly decreased after treatment (P<0.05), and was significantly better than that in the control group (P<0.05); Clinical symptoms and stress symptoms integral in the treatment group were significantly lower than those in the control group on the 4th, 7th, 14th days of chemotherapy, with statistical significance (P<0.05).Conclusion Hong-huang antioxidant can significantly improve the oxidative stress status, serological indexes, related blood rheology indexes, and clinical symptoms in patients with breast cancer.

Data were gathered from epidemiological survey of Xinjiang Hetian area in 2008 and 2 228 subjects were included.Waist-height ratio (WHtR),body mass index (BMI),Waist-hip ratio (WHpR) were calculated.Kappa test was applied to determine the concordance among different methods.The results showed that according to International Diabetes Federation 2005 diagnostic criteria for metabolic syndrome,it was better to apply WHtR in predicting metabolic syndrome by the receiver operating characteristic (ROC) curve than BMI,abdominal circumference,and WHpR.When the cutoff of WHtR was 0.53,the sensitivity and specificity in diagnosing MS were 91.2％ and 71.8 ％,with its area under ROC curve 0.878.Kappa test showed an intensive concordance between WHtR and waist circumference (WC).The specificity and sensitivity of diagnosing MS would be significantly raised by using both WHtR and WC.

Objective To screen the cardiac troponin T (TNNT2) mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the potential link between the genotype and the phenotype.Methods Clinical features of 100 probands with HCM and some family members were evaluated,200 unrelated normal subjects served as control.The exons and flanking introns of TNNT2 were amplified with PCR and direct sequencing was used to screen TNNT2 mutations/ polymorphisms.Results Two novel missense mutations were detected in 2 HCM patients:R92W and R286H.These 2 mutations were not found in 200 non-HCM controls.A five-basepair insertion/deletion polymorphism in intron 3 of TNNT2 was identified in this HCM cohort but was not related to the phenotype.Conclusions Two missense mutations,R92W and R286H,were found in 2/100 patients with HCM,TNNT 2 mutation is relatively low in Chinese patients with HCM.

Objective To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy ( HCM ). Methods Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. Results Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18. 7mm; a Asp463stop mutation in exonl7 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exonl8 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutatons occurred in 4. 5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. Conclusion MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.

Objective To construct recombinant eukaryotic expression plasmid encoding Swedish and Flemish mutations of amyloid precursor protein (APP) fused with fluorescent protein and to investigate the APP cleavage progress. Methods The last 300 bases of APP (named as C99 containing Flemish mutation), together with cyan and yellow fluorescence sequence (named as CFP and YFP,respectively) were obtained by polymerase chain reaction (PCR). The 54 bases in the middle of APP sequence were synthesized (named as 54 bp containing Swedish mutation). The 4 fragments mentioned above (CFP, YFP, C99 as well as 54 bp) were inserted into the vector pcDNA3.0. By genetic engineering, the recombinant plasmid pcDNA3.0-CFP-54bp-YFP-C99 was constructed and identified by enzyme digestion, PCR and sequencing. Then the plasmid was transfected into SH-SY5Y cells. Its expression was examined by fluorescence confocal microscopy and the fluorescence resonance energy transfer (FRET) signal was collected. The amyloid beta (A) deposition was detected by immunocytochemistry. Results (1) DNA sequencing showed the sequence of the constructed recombinant plasmid was correct. (2) FRET and two types of fluorescence could be seen by the spectrum confocal fluorescence microscopy. (3) The expression product of fusion gene was correct and cleaved by and secretases. (4) The A deposition was detected in the cell membrane, cytoplasma and intercellular space. Conclusion (1) The fusion protein can generate A by and γproteolytic processing. (2) It is for the first time to observe the APP cleavage by FRET. (3) It is also the first time to find that APP may be cleaved during its transportation from cell plasma to cell membrane. (4) C99 is very important for the correct cleavage of APP. Our test data strongly suggest that C99 may function as the signal peptide. It might guide and direct the APP to the right location for the cleavage.

OBJECTIVETo investigate the effects of interferon-gamma (IFN-gamma) and tumor necrosis factor alpha (TNF-gamma) on the sperm acrosin activity and the rate of acrosome reaction and to probe into their mechanisms.

METHODSThirty-six nearly normal semen samples were treated with IFN-gamma and/or TNF-alpha after isolated by 75% Percoll. The sperm acrosin activity was tested by the method of BAEE/ADH Unity, the rate of acrosome reaction observed by Triple-stain technique, the NO concentration measured by HPLC and the activities of Na+ -K+ -ATPase, Ca2+ -ATPase and SOD assayed by kit method.

RESULTSBoth IFN-gamma and TNF-gamma could decrease sperm acrosin activity and acrosome reaction (P < 0.05 or P < 0.01). TNF-alpha showed stronger inhibiting effect, IFN-gamma markedly reduced the activities of Na+ -K+ -ATPase, Ca2+ -ATPase and SOD in sperm (P < 0.01), and their synergistic action was weaker. However TNF-alpha produced hardly any effect on Na+ -K+ -ATPase and Ca2+ -ATPase. The NO concentration in sperm was significantly increased by IFN-gamma and/or TNF-alpha (P < 0.01).

CONCLUSIONIFN-gamma and TNF-alpha have some inhibiting effect on sperm acrosin activity and the rate of acrosome reaction, which could be attributed to their influence on the activities of Na+ -K+ -ATPase, Ca2+ -ATPase and SOD, the NO concentration and so on.

Acrosome Reaction ; drug effects ; Adult ; Calcium-Transporting ATPases ; metabolism ; Chromatography, High Pressure Liquid ; Humans ; Interferon-gamma ; pharmacology ; Male ; Middle Aged ; Nitric Oxide ; metabolism ; Sodium-Potassium-Exchanging ATPase ; metabolism ; Spermatozoa ; drug effects ; enzymology ; metabolism ; Superoxide Dismutase ; metabolism ; Tumor Necrosis Factor-alpha ; pharmacology

OBJECTIVEThe aim of this study was to screen the disease-causing gene mutations and investigate the genotype-phenotype correlation in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy (HCM).

METHODSThere are 91 family members from these 10 pedigrees and 5 members were normal mutated carriers, 23 members were HCM patients (14 male) aged from 1.5 to 73 years old. The functional regions of myosin heavy chain gene (MYH7), cardiac myosin-binding protein C (MYBPC3) and cardiac troponin T gene (TNNT2) were screened with PCR and direct sequencing technique. Clinical information from all patients was also evaluated in regard to the genotype.

RESULTSMutations were found in 5 out of 10 pedigrees. Mutations in MYH7 (Arg663His, Glu924Lys and Ile736Thr) were found in 3 pedigrees and 3 patients from these pedigrees suffered sudden death at age 20-48 years old during sport. Mutations in MYBPC3 were found in 2 pedigrees, 1 with complex mutation (Arg502Trp and splicing mutation IVS27 + 12C > T) and 1 with novel frame shift mutation (Gly347fs) and the latter pedigree has sudden death history. No mutation was identified in TNNT2.

CONCLUSIONSAlthough the Han Chinese is a relatively homogeneous ethnic group, different HCM gene mutations were responsible for familiar HCM suggesting the heterogeneity nature of the disease-causing genes and HCM MYH7 mutations are associated with a higher risk of sudden death in this cohort. Furthermore, identical mutation might result in different phenotypes suggesting that multiple factors might be involved in the pathogenesis of familiar HCM.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Cardiac Myosins ; genetics ; Cardiomyopathy, Hypertrophic, Familial ; ethnology ; genetics ; Carrier Proteins ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Myosin Heavy Chains ; genetics ; Pedigree ; Phenotype ; Troponin T ; genetics ; Young Adult

OBJECTIVETo study genetic feature, clinical and histopathological characteristic of two Chinese kindreds with cherubism (CBM).

METHODSTwo Chinese kindreds with CBM were investigated. The affected individuals of two families were analyzed with medical history, clinical manifestations, classified grading system, radiographic assessment, histopathological findings, and hereditary nature.

RESULTSThere were 2 individuals affected with CBM in family A and 3 patients involving three generations in family B. Two probands were diagnosed aggressive form cherubism and classified as grade IV. In histopathological findings, besides varying numbers of multinucleated giant cells in a stroma of fibroblasts and the eosinophilic cuffing surrounding some vessels, actively proliferating areas with clear mitoschisis and relative dormant areas with loose fibrous tissue and bone were also presented in microscopic fields of the lesion.

CONCLUSIONSCherubism is caused by autosomal dominant inheritance. The diagnosis should be based on the genetic, clinical, radiological, and pathological aspects of the disease.

Adult ; Cherubism ; diagnostic imaging ; genetics ; pathology ; Child ; Female ; Follow-Up Studies ; Humans ; Male ; Pedigree ; Radiography