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2.
Recent developments in neurofibromatoses and RASopathies: Management,diagnosis and current and future therapeutic avenues 下载免费PDF全文
Katherine A. Rauen Susan M. Huson Emma Burkitt‐Wright D. Gareth Evans Said Farschtschi Rosalie E. Ferner David H. Gutmann C. Oliver Hanemann Bronwyn Kerr Eric Legius Luis F. Parada Michael Patton Juha Peltonen Nancy Ratner Vincent M. Riccardi Thijs van der Vaart Miikka Vikkula David H. Viskochil Martin Zenker Meena Upadhyaya 《American journal of medical genetics. Part A》2015,167(1):1-10
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CDKN2A, CDKN2B and p14ARF are frequently and differentially methylated in ependymal tumours 总被引:1,自引:0,他引:1
Rousseau E Ruchoux MM Scaravilli F Chapon F Vinchon M De Smet C Godfraind C Vikkula M 《Neuropathology and applied neurobiology》2003,29(6):574-583
Ependymal tumours are histologically and clinically varied lesions. Numerical abnormalities of chromosome 9 are frequently associated with these tumours. Nevertheless, the three important tumour suppressor genes located in this chromosome, CDKN2A, CDKN2B and p14 ARF, have not been reported to be commonly altered in them. We studied promoter methylation of these genes, an important mechanism associated with gene silencing in a series of 152 ependymal tumours of WHO grades I to III. Methylation status of the CDKN2A, CDKN2B and p14 ARF promoters was assessed by methylation-specific polymerase chain reaction and the genetic results were correlated to clinicopathological features. We observed promoter methylation for CDKN2A in 21% (26/123) of tumours, for CDKN2B in 32% (23/71) and p14 ARF in 21% (23/108). For all three genes, posterior fossa ependymomas were less frequently methylated in paediatric patients than in adults. For CDKN2B, extracranial tumours were more frequently methylated than intracranial ones. For CDKN2B and p14 ARF, methylation was more frequent in low-grade tumours; the reverse was observed for CDKN2A. CDKN2A, CDKN2B and p14 ARF promoters were methylated in 21-32% of the tumours. Frequencies of methylation varied according to clinicopathological features. This suggests a role for these genes in ependymoma tumorigenesis. 相似文献
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Vascular malformations are localized errors of vascular development. They are often identified on the skin as "birthmarks" of various sizes shapes.…… 《中国口腔颌面外科杂志》2008,6(Z1):12
Vascular malformations are localized errors of vascular development. They are often identified on the skin as "birthmarks" of various sizes and shapes. 相似文献
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G Hampf J Vikkula P Ylipaavalniemi V Aalberg 《International journal of oral and maxillofacial surgery》1987,16(4):402-407
70 patients with orofacial dysaesthesia were clinically examined at the Department of Oral and Maxillofacial Surgery of the University of Helsinki. All the patients were referred for a psychiatric consultation. Later 16 refused to attend. 12 of the 54 patients (22.2%) who took part in the psychiatric interview were psychotic, 27 patients (50.0%) had a moderate mental disorder and 11 patients (20.4%) a mild psychiatric disorder. 4 of the patients had no psychic diagnosis (psychically healthy). The control group, which comprised 44 patients referred to the Department for surgical extraction of an impacted tooth, filled in the Cornell Medical Index questionnaire. 3 of the controls (6.8%) had a severe mental disturbance, 5 (11.4%) a moderate psychic disorder and 4 (9.1%) a mild psychiatric disorder, whereas 32 patients (72.7%) were mentally healthy. The results show that there is a psychic background in most patients with chronic orofacial pain who have no clinical findings corresponding to the sensation of somatic pain. 相似文献
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Sillanpää H Lahdenne P Sarvas H Arnez M Steere A Peltomaa M Seppälä I 《International journal of medical microbiology : IJMM》2007,297(1):45-52
Laboratory confirmation of Lyme borreliosis (LB) relies mainly on the demonstration of anti-borrelial antibodies. In recent studies, a novel VlsE protein IR6 peptide-based assay has been introduced. Our aim was to evaluate the IR6 peptides from three Borrelia burgdorferi sensu lato genospecies in the serodiagnosis of European and North American patients. Five VlsE protein IR6 peptide variants representing sequences from B. burgdorferi sensu stricto, B. garinii, and B. afzelii were used as antigens in both IgG and IgM enzyme-linked immunosorbent assays (ELISA). Serum antibodies of 187 patients at different stages of LB from Europe and the United States were evaluated for serodiagnosis. For comparison samples were tested with one of the commercial IR6 ELISAs. Three B. afzelii IR6 variant peptides revealed antibodies that were concordant with each other. B. burgdorferi sensu stricto peptide antibodies mostly paralleled B. afzelii peptide antibodies, and positive values were also obtained in the majority of European sera. For several sera, B. garinii IR6 peptide antibodies were discordant to B. afzelii peptide antibodies. The commercial IR6 peptide antibody assay (C6 ELISA) results correlated better with B. burgdorferi sensu stricto IR6 than with B. garinii IR6 peptide IgG results, especially in sera from patients with facial palsy. Thus, antibody specificity to IR6 peptides may vary according to the infecting Borrelia species. In some manifestations of the disease, C6 ELISA may not cover all LB cases. Evidently, the methodological aspects in ELISA design for peptide antibody measurements are important as well as the amino acids sequence of the antigen. 相似文献