8 research outputs found

    Interchromosomal insertions; identification of five cases and a review

    No full text

    SMART SEARCH IN NEWSPAPER ARCHIVES USING TOPIC MAPS

    No full text
    The OmniPaper project has implemented three information retrieval prototypes in the area of electronic news publishing. One prototype uses SOAP as communication protocol between the central system and a number of distributed news archives. The second prototype uses an RDF metadata database, enabling direct metadata queries to the central system. Finally the Topic Map prototype uses query expansion and semantic linking for smart metadata search. The Topic Map prototype enhances the search experience by implementing a knowledge layer that combines the semantic content of a lexical database, consisting of concepts and keywords, with a metadata-set of newspaper articles. The linking between both is currently implemented at the level of keywords but will be developed at the level of concepts in the final prototype. The knowledge layer has been designed from a Topic Map point of view, although the XTM syntax has not been used to avoid performance issues. The consortium’s adopted view on information publishing and retrieval considers querying and navigation as two very related actions that can both be captured under the name “search for relevant information”. Navigation forces the user to follow predefined paths whereas querying enables the user to look freely for a suitable starting point. The query and navigation functionality is provided through a web engine and is build on top of the information structure of the knowledge layer

    SCC Antigen Concentrations in Fine-Needle Aspiration Samples to Detect Cervical Lymph Node Metastases: A Prospective Analysis

    Get PDF
    OBJECTIVE: To determine the diagnostic value of measuring squamous cell carcinoma antigen (SCC-Ag) and cancer antigen 15-3 (CA15-3) concentrations in fine-needle aspiration (FNA) samples for the detection of squamous cell carcinoma (SCC) metastases in cervical lymph nodes. STUDY DESIGN: A prospective study with patients consecutively included between November 2018 and May 2021. SETTING: A tertiary head and neck oncologic center. METHODS: Out of 138 patients, SCC-Ag concentrations were analyzed in 168 FNA cervical lymph node samples and CA15-3 in 152 samples. Results were compared with FNA cytology (FNAC) or definitive histology to establish sensitivity and specificity rates. RESULTS: For the detection of cervical SCC lymph node metastases, SCC-Ag measurement had an 89.4% sensitivity and 79.3% specificity at a cutoff concentration of 0.1 µg/L. Measurement of CA15-3 concentration in addition to SCC-Ag concentration did not lead to improved accuracy for the detection of SCC. In histology-confirmed cases, FNAC had an 80.0% sensitivity and 100% specificity, as opposed to 93.3% and 57.1%, respectively, for SCC-Ag. CONCLUSION: Measurement of SCC-Ag concentration for detection of SCC lymph node metastases has a sensitivity at least comparable to FNAC and could be used as a relatively cheap screening tool in samples with nondiagnostic or indeterminate FNAC results or when multiple lymph nodes are sampled. However, SCC-Ag in FNA samples has a lower specificity than FNAC assessed by pathologists experienced in head and neck oncology. Addition of CA15-3 measurement did not lead to improved accuracy

    Squamous cell carcinoma antigen concentration in fine needle aspiration samples: A new method to detect cervical lymph node metastases of head and neck squamous cell carcinoma

    Get PDF
    BACKGROUND: The purpose of this study was to determine the additional diagnostic value of squamous cell carcinoma antigen (SCC-Ag) in cervical lymph node fine needle aspiration (FNA) samples for the detection of regional metastases of head and neck squamous cell carcinoma (HNSCC). METHODS: In 149 FNA samples of 114 patients, SCC-Ag concentration was retrospectively analyzed and associated with diagnosis to establish a cutoff concentration in relation to sensitivity and specificity of HNSCC detection. RESULTS: SCC-Ag was elevated in lymph nodes from patients with HNSCC compared to lymph nodes from other patients (P < 0.01). With 0.3 μg/L as the cutoff concentration, SCC-Ag has 96% sensitivity for detecting HNSCC. CONCLUSIONS: SCC-Ag in FNA is a reliable test for detecting HNSCC in cervical lymph nodes

    DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

    No full text
    The cloning of the FMR-1 gene and the identification of an expanded CGG repeat in DNA of fragile X patients has made reliable DNA diagnosis feasible. Southern blotting and PCR assays of the CGG repeat in an unselected series of 236 mentally retarded subjects resulted in the identification of 10 new fragile X families. Reevaluation of previously assessed fragile X families resulted in the first observation of the presence of a reversal of mutation in the FMR-1 gene. © 1994 Wiley-Liss, Inc

    Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere

    Get PDF
    Neocentromeres are fully functional centromeres that have arisen in previously noncentromeric chromosomal locations on rearranged chromosomes. The formation of neocentromeres results in the mitotic stability of chromosomal fragments that do not contain endogenous centromeres and that would normally be lost. Here we describe a unique collection of eight independent patient-derived cell lines, each of which contains a neocentromere on a supernumerary inversion duplication of a portion of human chromosome 13q. Findings in these patients reveal insight into the clinical manifestations associated with polysomy for portions of chromosome 13q. The results of FISH and immunofluorescent analysis of the neocentromeres in these chromosomes confirm the lack of alpha-satellite DNA and the presence of CENtromere proteins (CENP)-C, -E, and hMAD2. The positions of the inversion breakpoints in these chromosomes have been placed onto the physical map of chromosome 13, by means of FISH mapping with cosmid probes. These cell lines define, within chromosome 13q, at least three distinct locations where neocentromeres have formed, with five independent neocentromeres in band 13q32, two in band 13q21, and one in band 13q31. The results of examination of the set of 40 neocentromere-containing chromosomes that have thus far been described, including the 8 neocentromere-containing chromosomes from chromosome 13q that are described in the present study, suggest that chromosome 13q has an increased propensity for neocentromere formation, relative to some other human chromosomes. These neocentromeres will provide the means for testing hypotheses about sequence requirements for human centromere formation
    corecore