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  • 1
    Keywords: ASSOCIATION ; STEM-CELLS ; SKIN-CANCER ; CELL CARCINOMA ; CANCER-RISK ; SEQUENCE VARIANTS ; GENOTYPE IMPUTATION ; MEAN TELOMERE LENGTH ; PHENOTYPIC CHARACTERISTICS ; FIELD SYNOPSIS
    Abstract: Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P 〈 5 x 10(-8)), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.
    Type of Publication: Journal article published
    PubMed ID: 26237428
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  • 2
    Abstract: Importance: The causal direction and magnitude of the association between telomere length and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility of observational studies to confounding and reverse causation. Objective: To conduct a Mendelian randomization study, using germline genetic variants as instrumental variables, to appraise the causal relevance of telomere length for risk of cancer and non-neoplastic diseases. Data Sources: Genomewide association studies (GWAS) published up to January 15, 2015. Study Selection: GWAS of noncommunicable diseases that assayed germline genetic variation and did not select cohort or control participants on the basis of preexisting diseases. Of 163 GWAS of noncommunicable diseases identified, summary data from 103 were available. Data Extraction and Synthesis: Summary association statistics for single nucleotide polymorphisms (SNPs) that are strongly associated with telomere length in the general population. Main Outcomes and Measures: Odds ratios (ORs) and 95% confidence intervals (CIs) for disease per standard deviation (SD) higher telomere length due to germline genetic variation. Results: Summary data were available for 35 cancers and 48 non-neoplastic diseases, corresponding to 420081 cases (median cases, 2526 per disease) and 1093105 controls (median, 6789 per disease). Increased telomere length due to germline genetic variation was generally associated with increased risk for site-specific cancers. The strongest associations (ORs [95% CIs] per 1-SD change in genetically increased telomere length) were observed for glioma, 5.27 (3.15-8.81); serous low-malignant-potential ovarian cancer, 4.35 (2.39-7.94); lung adenocarcinoma, 3.19 (2.40-4.22); neuroblastoma, 2.98 (1.92-4.62); bladder cancer, 2.19 (1.32-3.66); melanoma, 1.87 (1.55-2.26); testicular cancer, 1.76 (1.02-3.04); kidney cancer, 1.55 (1.08-2.23); and endometrial cancer, 1.31 (1.07-1.61). Associations were stronger for rarer cancers and at tissue sites with lower rates of stem cell division. There was generally little evidence of association between genetically increased telomere length and risk of psychiatric, autoimmune, inflammatory, diabetic, and other non-neoplastic diseases, except for coronary heart disease (OR, 0.78 [95% CI, 0.67-0.90]), abdominal aortic aneurysm (OR, 0.63 [95% CI, 0.49-0.81]), celiac disease (OR, 0.42 [95% CI, 0.28-0.61]) and interstitial lung disease (OR, 0.09 [95% CI, 0.05-0.15]). Conclusions and Relevance: It is likely that longer telomeres increase risk for several cancers but reduce risk for some non-neoplastic diseases, including cardiovascular diseases.
    Type of Publication: Journal article published
    PubMed ID: 28241208
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  • 3
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  126. Kongress der Deutschen Gesellschaft für Chirurgie; 20090428-20090501; München; DOC09dgch11588 /20090423/
    Publication Date: 2009-05-06
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 4
    ISSN: 1433-0350
    Keywords: Key words Infant ; Spinal epidural abscess ; Anterior approach
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Spinal epidural abscess (SEA) is rare in children, especially in newborns and infants, groups in which only very few cases have been reported. Because of the nonspecificity of presenting symptoms in children the diagnosis may be delayed, resulting in major permanent neurological deficits. In this paper, we report a case of cervical SEA in a 6-week-old infant who initially presented with fever and developed quadriparesis 19 days prior to admission. After emergency anterior decompression of the abscess the neurological function was improved immediately. Five months after surgery the neurological status was normal, an MR study showing disappearance of the epidural abscess and spinal cord indentation, and progressive fusion of the C3, C4 and C5 vertebral bodies. Anterior decompression without bone graft can provide an excellent prognosis in case of an anterior cervical SEA in infants.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1574-6968
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: Among the 443 clinical isolates of Escherichia coli and Klebsiella spp. collected between June and November 2003 from 3 university hospitals in Korea, 62 isolates were confirmed as extended-spectrum β-lactamase (ESBL)- or plasmid-mediated AmpC β-lactamase-producers by double disk synergy test, PCR and sequencing for β-lactamase genes. The most frequently identified ESBL gene among E. coli and K. pneumoniae isolates was blaSHV-12 and blaCTX-M (blaCTX-M-9, blaCTX-M-14, blaCTX-M-3, and blaCTX-M-15). Four kinds of plasmid-mediated AmpC β-lactamases, ACT-1, CMY-1, CMY-2, and DHA-1, were detected. ESBL production was associated with high levels of resistance to tetracycline, sulfisoxazole, streptomycin, kanamycin, gentamicin and tobramycin when compared to non-ESBL producing isolates. Conclusively, this study suggests that the CTX-M β-lactamases are prevalent and various kinds of plasmid-mediated AmpC enzymes are distributed in clinical isolates of E. coli and Klebsiella spp. in Korea.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1573-7330
    Keywords: Bovine oocyte ; electric stimulation ; embryo development ; intracytoplasmic sperm injection ; pregnant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: This study was carried out to investigate the efficacyof electric stimulation before and/or after intracytoplasmicsperm injection (ICSI) on bovine oocyte activation andembryo development. Methods: The oocytes were treated with electric shock before(B), before and after (B&A), and after (A) sperm injection.In each group, sham ICSI (ICSI-s) was performed to excludethe effect of parthenogenesis (B ICSI-s, B&A ICSI-s, and AICSI-s). An electric pulse was applied with a single directcurrent (DC) pulse (0.8 kV/cm, 70 μsec). Results: One pronucleus (PN) formation in the B&A ICSI-sgroup was slightly higher than that found in B and B&AICSI group; however, the difference was not significant. TwoPN formation in B&A ICSI group was higher than that foundin sham ICSI groups (P 〈 0.05). There were no differencesamong treatment groups in the cleavage rate; however, morulaeand blastocyst formation in the B&A embryos wassignificantly higher than that of other groups (P 〈 0.05)and got pregnant. Conclusions: Electric stimulation before and after injectionwas an effective method in inducing bovine oocyte activationand in sustaining embryo development to the morulae andblastocyst stage.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1573-7373
    Keywords: loss of heterozygosity (LOH) ; chromosome 22q ; chromosome 17p ; aggressiveness ; invasive meningioma ; malignant meningioma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract According to reported cytogenetic studies, there is a significant association between chromosomal aberrations and aggressiveness in meningiomas. With the method of restriction fragment length polymorphism analysis (RFLP), we examined tumor specific LOH on chromosome 17p and 22q in 30 cases of intracranial meningiomas. There were eight cases of meningiomas with aggressive characteristics, such as invasive meningioma, malignant meningioma, hemangiopericytic meningioma, and multiple meningiomas with central neurofibromatosis. Twenty-five of 30 cases (83%) were constitutionally heterozygous for at least one of the chromosome 22q DNA markers and sixteen of 25 informative cases (64%) displayed loss of heterozygosity (LOH). All of the 8 informative cases (100%) of meningiomas with aggressive characteristics, showed LOH on chromosome 22q whereas non-aggressive cases revealed LOH in eight of 17 informative cases (47%). At the loci on chromosome 17p, only two cases of malignant meningionas showed LOH. Our results suggest that the inactivations of putative tumor suppressor genes on chromosome 22q and 17p may correlate with aggressiveness and malignant transformation of meningiomas.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1573-7330
    Keywords: cyclin D2 mRNA ; human luteinized granulosa cell ; clinical parameters
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: The aim was to evaluate whether the expression of cyclin D2 mRNA in human luteinized granulosa cells correlates with the clinical parameters of women undergoing in vitro fertilization–embryo transfer (IVF-ET) programs. Methods: Using reverse transcriptase–polymerase chain reaction (RT-PCR) techniques, the cyclin D2 mRNA in human luteinized granulosa cells of large follicles was measured. Correlation analysis between cyclin D2 mRNA expression and clinical parameters [age; day3 follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol (E2); E2 and P4 at the day of human chorionic gonadotropin (hCG); total amount of gonadotropin and the number of days of gonadotropin administration; pregnancy outcome] were performed. Result(s): Cyclin D2 mRNA expression showed negative correlation with patient's age (R = −0.60, P 〈 0.005) and total amount of gonadotropins (R = −0.45, P 〈 0.03), and also showed positive correlation with serum E2 levels at the day of hCG administration (R = 0.55, P 〈 0.02). Other clinical parameters showed no statistical significance. Cyclin D2 mRNA expression of pregnant group was higher than that of nonpregnant group (P 〈 0.03). Conclusions: Cyclin D2 mRNA expression in human luteinized granulosa cells positively correlates with clinical parameters of ovarian function and may be a novel marker for the health of human ovarian follicle.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1551-2916
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: In a Pb(Mg1/3Nb2/3)O3-35 mol% PbTiO3 (PMN-35PT) specimen with 5 mol% excess PbO, the pores trapped inside grains by heat treatment in a double cycle at 1150°3C have revealed the coarsening pattern of the grains. Using this technique, the coarsening process of abnormal large grains with typical characteristics of penetration twins could be determined. The results suggest that two-dimensional nucleation and lateral growth enhanced at the reentrant edges are the cause of zigzag-shaped σ3 incoherent twin boundaries.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1551-2916
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: Alumina specimens with various amounts of CaO and SiO2 (1:2 ratio) were prepared, and their abnormal grain growth (AGG) kinetics were investigated. A plot of the area fraction covered by abnormal grains versus log (sintering time) had a sigmoidal shape with an apparent incubation period before the onset of AGG. The overall kinetics of AGG was similar to that of a phase transformation controlled by nucleation and growth. The incubation time and the end point of AGG were strongly dependent on the amount of liquid-forming additives. Correspondingly, the final microstructure was affected by the liquid content: a large grain size and a high aspect ratio at low liquid content and a small grain size and a low aspect ratio at high liquid content.
    Type of Medium: Electronic Resource
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