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  • 1
    Electronic Resource
    Electronic Resource
    238 Main Street, Cambridge, Massachusetts 02142, USA : Blackwell Scientific Publications
    ISSN: 1525-1438
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Between 1982 and 1992, 32 patients with squamous cell vaginal cancer were treated. Fourteen patients had stage I, 11 stage II, two stage III and five stage IV disease. The mean age of stage I and II patients was 64, of stage III and IV patients 73. Six patients were pessary-bearing, two had a total procidentia, eight had been treated for cervical intraepithelial neoplasia (CIN), one for cervical cancer and one for vulvar cancer 5–21 years before diagnosis. One patient had had external irradiation for endometrial cancer 15 years before. Nine patients had no follow-up examinations after treatment for CIN, for vulvar cancer or after insertion of a pessary. In 14 patients doctors’ or patients’ delays were considerable. Most patients presented with vaginal discharge or bleeding, and urinary symptoms. Various treatment modalities were used. The selected patients who could be treated by surgery did best. Only patients with a stage I tumor or a stage II tumor with a diameter of at most 30 mm survived. Tumor stage and tumor diameter were the important prognostic factors. No patient died of disease after 33 months. Failure in obtaining local control was the usual cause of death. Recommendations for prevention or early diagnosis are formulated.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-4373
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with endocarditis caused byCorynebacterium CDC Group A-4 is described. This is the first case in the literature of endocarditis caused by this bacteria, and is unique in that the patient was immune competent and the infection occurred on a native valve. This case illustrates that corynebacteria cannot be considered a contaminant and that the exact pathogen should be identified.
    Type of Medium: Electronic Resource
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  • 3
    Publication Date: 2018-02-23
    Description: Background Mutations in the NCF1 gene that encodes p47 phox , a subunit of the NADPH oxidase complex, cause chronic granulomatous disease (CGD). In Kavkazi Jews, a c.579G〉A (p.Trp193Ter) mutation in NCF1 is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. Methods We used Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), gene scan analysis and Ion Torrent Next Generation Sequencing for genetic analysis, and measured NADPH oxidase activity and p47 phox expression. Results In an Ashkenazi couple expecting a baby, both parents were found to be heterozygotes for this mutation, as was the fetus. However, segregation analysis in the extended family was consistent with the fetus inheriting both carrier alleles from the parents. MLPA indicated four complete NCF1 genes in the fetus and three in each parent. Gene sequencing confirmed these results. Analysis of fetal leucocytes obtained by cordocentesis revealed substantial oxidase activity with three different assays, which was confirmed after birth. In six additional Ashkenazi carriers of the NCF1 c.579G〉A mutation, we found five individuals with three complete NCF1 genes of which one was mutated (like the parents), and one individual with in addition a fusion gene of NCF1 with a pseudogene. Conclusion These results point to the existence of a ‘false-carrier’ state in Ashkenazi Jews and have wide implications regarding pre-pregnancy screening in this and other population groups.
    Print ISSN: 0022-2593
    Electronic ISSN: 1468-6244
    Topics: Medicine
    Published by BMJ Publishing Group
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