Base de dados : MEDLINE Pesquisa : B01.150.900.649.801.400.112.400.400 [Categoria DeCS] Referências encontradas : 4838602 [refinar] Mostrando: 1 .. 10   no formato [Longo]

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PMID: 19703308 Autor: Koontz DA; Huckins JJ; Spencer A; Gallagher ML Endereço: Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. duk5@cdc.gov Título: Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing technology. Fonte: BMC Med Genet; 10:80, 2009. ISSN: 1471-2350 País de publicação: England Idioma: eng Resumo: BACKGROUND: Identification of CYP2A6 alleles associated with reduced enzyme activity is important in the study of inter-individual differences in drug metabolism. CYP2A6*12 is a hybrid allele that results from unequal crossover between CYP2A6 and CYP2A7 genes. The 5' regulatory region and exons 1-2 are derived from CYP2A7, and exons 3-9 are derived from CYP2A6. Conventional methods for detection of CYP2A6*12 consist of two-step PCR protocols that are laborious and unsuitable for high-throughput genotyping. We developed a rapid and accurate method to detect the CYP2A6*12 allele by Pyrosequencing technology. METHODS: A single set of PCR primers was designed to specifically amplify both the CYP2A6*1 wild-type allele and the CYP2A6*12 hybrid allele. An internal Pyrosequencing primer was used to generate allele-specific sequence information, which detected homozygous wild-type, heterozygous hybrid, and homozygous hybrid alleles. We first validated the assay on 104 DNA samples that were also genotyped by conventional two-step PCR and by cycle sequencing. CYP2A6*12 allele frequencies were then determined using the Pyrosequencing assay on 181 multi-ethnic DNA samples from subjects of African American, European Caucasian, Pacific Rim, and Hispanic descent. Finally, we streamlined the Pyrosequencing assay by integrating liquid handling robotics into the workflow. RESULTS: Pyrosequencing results demonstrated 100% concordance with conventional two-step PCR and cycle sequencing methods. Allele frequency data showed slightly higher prevalence of the CYP2A6*12 allele in European Caucasians and Hispanics. CONCLUSION: This Pyrosequencing assay proved to be a simple, rapid, and accurate alternative to conventional methods, which can be easily adapted to the needs of higher-throughput studies. Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, U.S. GOV'T, P.H.S.; VALIDATION STUDIES Nome de substância: EC 1.14.14.1 (Aryl Hydrocarbon Hydroxylases); EC 1.14.14.1 (Cytochrome P450 CYP2A7 (baboon)); EC 1.14.14.1 (coumarin 7-hydroxylase)

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PMID: 19691832 Autor: Nagy G; Kovacs-Nagy R; Kereszturi E; Somogyi A; Szekely A; Nemeth N; Hosszufalusi N; Panczel P; Ronai Z; Sasvari-Szekely M Endereço: 2nd Department of Internal Medicine, Semmelweis University, Budapest, Hungary. ngeza@bel2.sote.hu Título: Association of hypoxia inducible factor-1 alpha gene polymorphism with both type 1 and type 2 diabetes in a Caucasian (Hungarian) sample. Fonte: BMC Med Genet; 10:79, 2009. ISSN: 1471-2350 País de publicação: England Idioma: eng Resumo: BACKGROUND: Hypoxia inducible factor-1 alpha (HIF-1alpha) is a transcription factor that plays an important role in neo-vascularisation, embryonic pancreas beta-cell mass development, and beta cell protection. Recently a non synonymous single nucleotide polymorphism (g.C45035T SNP, rs11549465) of HIF-1alpha gene, resulting in the p.P582S amino acid change has been shown to be associated with type 2 diabetes (T2DM) in a Japanese population. Our aim was to replicate these findings on a Caucasian (Hungarian) population, as well as to study whether this genetic effect is restricted to T2DM or can be expanded to diabetes in general. METHODS: A large Caucasian sample (N = 890) was recruited including 370 T2DM, 166 T1DM and 354 healthy subjects. Genotyping was validated by two independent methods: a restriction fragment analysis (RFLP) and a real time PCR using TaqMan probes. An overestimation of heterozygotes by RFLP was observed as a consequence of a nearby SNP (rs34005929). Therefore genotyping results of the justified TaqMan system were accepted. The measured genotype distribution corresponded to Hardy-Weinberg equilibrium (P = 0.740) RESULTS: As the TT genotype was extremely rare in the population (0.6% in clinical sample and 2.5% in controls), the genotypes were grouped as T absent (CC) and T present (CT and TT). Genotype-wise analysis showed a significant increase of T present group in controls (24.0%) as compared to patients (16.8%, P = 0.008). This genetic effect was demonstrated in the separated samples of type 1 (15.1%, P = 0.020), and also in type 2 (17.6%, P = 0.032) diabetes. Allele-wise analysis gave identical results showing a higher frequency of the T allele in the control sample (13.3%) than in the clinical sample (8.7%, P = 0.002) with similar results in type 1 (7.8%, P = 0.010) and type 2 (9.1%, P = 0.011) diabetes. The odds ratio for diabetes (either type 1 or 2) was 1.56 in the presence of the C allele. CONCLUSION: We confirmed the protective effect of a rare genetic variant of HIF-1alpha gene against type 2 diabetes in a Caucasian sample. Moreover we demonstrated a genetic contribution of the same polymorphism in type 1 diabetes as well, supporting a possible overlap in pathomechanism for T2DM and a T1DM. Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T Nome de substância: 0 (HIF1A protein, human); 0 (Hypoxia-Inducible Factor 1, alpha Subunit)

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PMID: 19674475 Autor: Naeem M; Sheikh S; Ahmad W Endereço: Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan. mnaeem@qau.edu.pk Título: A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. Fonte: BMC Med Genet; 10:76, 2009. ISSN: 1471-2350 País de publicação: England Idioma: eng Resumo: BACKGROUND: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Mutations in the gene encoding cathepsin K (CTSK), a lysosomal cysteine protease, have been found to be responsible for this disease. OBJECTIVES: To identify pathogenic mutation in a consanguineous Pakistani family with 3 affected individuals demonstrating autosomal recessive pycnodysostosis. METHODS: Genotyping of 10 members of the family, including three affected and seven unaffected individuals was carried out by using polymorphic markers D1S442, D1S498, and D1S305, which are closely linked to the CTSK gene on chromosome 1q21. To screen for mutations in the CTSK gene, all of its exons and splice junctions were PCR amplified from genomic DNA and sequenced directly in an ABI Prism 310 automated sequencer. RESULTS: Genotyping results showed linkage of the pycnodysostosis Pakistani family to the CTSK locus. Sequence analysis of the CTSK gene revealed homozygosity for a missense mutation (A277V) in the affected individuals. CONCLUSION: We describe a missense mutation in the CTSK gene in a Pakistani family affected with autosomal recessive pycnodysostosis. Our study strengthens the role of this particular mutation in the pathogenesis of pycnodysostosis and suggests its prevalence in Pakistani patients. Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T Nome de substância: EC 3.4.- (Cathepsins); EC 3.4.22.- (cathepsin K)

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PMID: 19686598 Autor: Stekrova J; Reiterova J; Svobodova S; Kebrdlova V; Lnenicka P; Merta M; Viklicky O; Kohoutova M Endereço: Institute of Biology and Medical Genetics of the 1st Faculty of Medicine and General Teaching Hospital, Charles University, Prague, Czech Republic. jstek@lf1.cuni.cz Título: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease. Fonte: BMC Med Genet; 10:78, 2009. ISSN: 1471-2350 País de publicação: England Idioma: eng Resumo: BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. The disease is caused by mutations of the PKD1 (affecting roughly 85% of ADPKD patients) and PKD2 (affecting roughly 14% of ADPKD patients) genes, although in several ADPKD families, the PKD1 and/or PKD2 linkage was not found. Mutation analysis of the PKD1 gene is complicated by the presence of highly homologous genomic duplications of the first two thirds of the gene. METHODS: The direct detection of mutations in the non-duplicated region of the PKD1 gene was performed in 90 unrelated individuals, consisting of 58 patients with end-stage renal failure (manifesting before their 50th year of life) and 32 individuals from families where the disease was clearly linked to the PKD1 gene. Mutation screening was performed using denaturing gradient gel electrophoresis (DGGE). DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. RESULTS: In the non-duplicated region of the PKD1 gene, 19 different likely pathogenic germline sequence changes were identified in 19 unrelated families/individuals. Fifteen likely pathogenic sequence changes are unique for the Czech population. The following probable mutations were identified: 9 nonsense mutations, 6 likely pathogenic missense mutations, 2 frameshifting mutations, one in-frame deletion and probable splice site mutation. In the non-duplicated region of the PKD1 gene, 16 different polymorphisms or unclassified variants were detected. CONCLUSION: Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations) were detected. The establishment of localization and the type of causal mutations and their genotype phenotype correlation in ADPKD families will improve DNA diagnosis and could help in the assessment of the clinical prognosis of ADPKD patients. Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T Nome de substância: 0 (TRPP Cation Channels); 0 (polycystic kidney disease 1 protein)

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PMID: 19716939 Autor: Temin S; American Society of Clinical Oncology Endereço: American Society of Clinical Oncology, Cancer Policy and Clinical Affairs Department, 2318 Mill Road, Suite 800, Alexandria, VA 22314, USA. Título: American Society of Clinical Oncology clinical practice guideline update on the use of pharmacologic interventions including tamoxifen, raloxifene, and aromatase inhibition for breast cancer risk reduction. Fonte: Gynecol Oncol; 115(1):132-4, 2009 Oct. ISSN: 1095-6859 País de publicação: United States Idioma: eng Tipo de publicação: JOURNAL ARTICLE; PRACTICE GUIDELINE Nome de substância: 0 (Aromatase Inhibitors); 10540-29-1 (Tamoxifen); 65646-68-6 (Fenretinide); 84449-90-1 (Raloxifene)

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PMID: 19716938 Autor: Russell AH Título: Forwards through the rear-view mirror. Fonte: Gynecol Oncol; 115(1):1-3, 2009 Oct. ISSN: 1095-6859 País de publicação: United States Idioma: eng Tipo de publicação: EDITORIAL

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PMID: 19654070 Autor: Pristauz G; Bader AA; Regitnig P; Haas J; Winter R; Tamussino K Endereço: Department of Obstetrics and Gynecology, Medical University of Graz, 8036 Graz, Austria. gunda.pristauz@klinikum-graz.at Título: How accurate is frozen section histology of pelvic lymph nodes in patients with endometrial cancer? Fonte: Gynecol Oncol; 115(1):12-7, 2009 Oct. ISSN: 1095-6859 País de publicação: United States Idioma: eng Resumo: OBJECTIVE: Recent prospective data support the trend towards systematic retroperitoneal lymphadenectomy in patients with high-risk endometrial cancer. Because para-aortic node involvement in the absence of pelvic node involvement is uncommon, a reliable finding of negative pelvic lymph nodes (PLN) at intraoperative frozen section examination might allow omitting para-aortic dissection. We analyzed the diagnostic accuracy of frozen section examination of PLN in patients with endometrial cancer. METHODS: We reviewed 131 patients with endometrial cancer who underwent surgery including systematic pelvic lymphadenectomy (n=101) or pelvic and para-aortic lymphadenectomy (n=27). Intraoperative frozen section examination of PLN was performed in 72 (55%) patients. Results of frozen section examination were compared with those of final histopathology and the diagnostic accuracy of frozen section examination of PLN was calculated. One pathologist measured the diameters of PLN metastases retrospectively. RESULTS: A total of 1063 and 2666 PLN were analyzed by frozen section examination and by final histopathology, respectively. PLN metastases were found in 7 cases (10%) at frozen section examination, and in 17 cases (24%) at final histopathology (false negative rate, 59%). No false positive cases were noted. The mean diameter of all PLN metastases at final histopathology was 4.3 mm, as compared to 9.0 mm for the metastases detected at frozen section analyses. The mean diameter of PLN metastases missed at frozen section examination was 2.0 mm. CONCLUSION: In this review at a single institution, intraoperative frozen section histology missed nearly two of three endometrial cancer patients with positive nodes. These results do not support tailoring the extent of lymphadenectomy according to the results of frozen section examination. Tipo de publicação: JOURNAL ARTICLE

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PMID: 19647859 Autor: Van Pachterbeke C; Bucella D; Rozenberg S; Manigart Y; Gilles C; Larsimont D; Vanden Houte K; Reynders M; Snoeck R; Bossens M Endereço: Department of Obstetrics and Gynecology, Universitary Hospital Brugmann, Brussels, Belgium. catherine.vanpachterbeke@chu-brugmann.be Título: Topical treatment of CIN 2+ by cidofovir: results of a phase II, double-blind, prospective, placebo-controlled study. Fonte: Gynecol Oncol; 115(1):69-74, 2009 Oct. ISSN: 1095-6859 País de publicação: United States Idioma: eng Resumo: OBJECTIVE: Randomized controlled trial evaluating a topical treatment for cervical intraepithelial neoplasia 2 and 3 (CIN 2+) using cidofovir. METHODS: Fifty-three women with a biopsy-proven CIN 2+ were randomly assigned, 6 weeks before their planned conisation, either 3 applications of 3 ml 2% cidofovir in Intrasite gel in a cervical cap or a placebo (the same volume of Intrasite alone). A cervical sample for high-risk types of human papillomaviruses (HPV) (Hybrid Capture 2 or HC2) was taken before treatment and before conisation. The cone was submitted for pathological examination, and subsequently, along with the initial biopsy, to in situ hybridization (ISH) for high-risk HPV. RESULTS: Forty-eight patients were treated and followed according to the protocol, (23 cidofovir, and 25 placebo). Fourteen of the 23 cones were free of any CIN (60.8%) in the cidofovir group. Only 5 of 25 cones were free of any CIN (20%) in the placebo group (p<0.01). The difference remained significant in the ITT group (p<0.05). In the per-protocol and ITT populations, we observed more frequent viral clearance in the cidofovir group, but the difference was significant only when evaluated by ISH and not by HC2. No systemic toxicity was observed. Cervico-vaginal side effects of cidofovir were limited, and not statistically different from placebo. CONCLUSION: The medical topical treatment with cidofovir, at this point, cannot replace conisation, but it is a promising candidate for topical chemotherapy of CIN 2+ lesions; a larger prospective randomized study is needed to confirm our results. Tipo de publicação: CLINICAL TRIAL, PHASE II; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL Nome de substância: 0 (Antineoplastic Agents); 0 (Gels); 0 (Phosphonic Acids); 0 (Placebos); 113852-37-2 (cidofovir); 71-30-7 (Cytosine)

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PMID: 19647308 Autor: Taylor DD; Gercel-Taylor C; Parker LP Endereço: Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Women's Health, University of Louisville School of Medicine, Louisville, KY 40292, USA. ddtaylor@louisville.edu Título: Patient-derived tumor-reactive antibodies as diagnostic markers for ovarian cancer. Fonte: Gynecol Oncol; 115(1):112-20, 2009 Oct. ISSN: 1095-6859 País de publicação: United States Idioma: eng Resumo: OBJECTIVE: Most ovarian cancers are diagnosed at advanced stage (67%) and prospects for significant improvement in survival reside in early diagnosis. Our objective was to validate our array assay for the identification of ovarian cancer based on quantitation of tumor-reactive IgG. METHODS: The diagnostic array utilizes specific exosome-derived antigens to detect reactive IgG in patients' sera. Specific protein targets were isolated by immunoaffinity from exosomes derived from ovarian tumor cell lines. Sera were obtained from age-matched female volunteers, women with benign ovarian disease and with ovarian cancer. Immunoreactivity was also compared between exosomal proteins and their recombinant counterparts. RESULTS: Sera from ovarian cancer patients exhibited significantly greater immunoreactivities than either normal controls or women with benign disease (both considered negative to all antigens tested). Reactivities with nucleophosmin, cathepsin D, p53, and SSX common antigen for patients with all stages of ovarian cancer were significantly higher than for controls and women with benign ovarian disease. Reactivity with placental type alkaline phosphatase, TAG 72, survivin, NY-ESO-1, GRP78, and Muc16 (CA125) allowed the differentiation between Stage III/IV and early stage ovarian cancer. CONCLUSIONS: The quantitation of circulating tumor-reactive IgG can be used to identify the presence of ovarian cancer. The analyses of IgG recognition of specific exosomal antigens allows for the differentiation of women with benign ovarian masses from ovarian cancer, as well as distinguishing early and late stage ovarian cancers. Thus, the quantitative assessment of IgG reactive with specific tumor-derived exosomal proteins can be used as diagnostic markers for ovarian cancer. Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL Nome de substância: 0 (Antigens, Neoplasm); 0 (Autoantibodies); 0 (Epitopes); 0 (Immunoglobulin G); 0 (Tumor Markers, Biological)

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PMID: 19647307 Autor: Kobayashi E; Iwamiya T; Isobe M; Miyake T; Shiki Y; Yamasaki M Endereço: Department of Obstetrics and Gynecology, Osaka Rosai Hospital, Sakai City, Osaka 591-8025, Japan. e_kobayashi@fkmc.or.jp Título: A novel technique for the management of the vesicouterine ligament during radical hysterectomy. Fonte: Gynecol Oncol; 115(1):56-9, 2009 Oct. ISSN: 1095-6859 País de publicação: United States Idioma: eng Resumo: OBJECTIVE: To introduce a simple and safe method for the management of the vesicouterine ligament (VUL) during radical hysterectomy. METHOD: From 2004 to 2006, 35 patients with the International Federation of Gynecology and Obstetrics (FIGO) stage IB1 (n=32) and IB2 (n=3) invasive cervical cancer underwent radical hysterectomy. Epinephrine, which was diluted 1:1,000,000 times with saline solution, was injected into the VUL. We investigated whether this hydrodissection technique is safe and simple to apply in the management of the VUL during radical hysterectomy. RESULT: The hydrodissection technique enabled us to easily identify cervicovesical vessels. As a result, none of the patients suffered ureteral injury during radical hysterectomy. CONCLUSION: The injection of diluted epinephrine into the VUL is safe and simple to apply in the management of the VUL during radical hysterectomy. Tipo de publicação: JOURNAL ARTICLE Nome de substância: 51-43-4 (Epinephrine)

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