60 research outputs found

    Studio citochimico sul metabolismo degli spermatozoi umani nel corso della capacitazione in vitro anche dopo crioconservazione

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    To study the effects of deep freezing on the energy metabolism of human spermatozoa, we investigated, by cytochemical quantitative methods, cytochrome oxidase and lactate dehydrogenase activities of fresh and frozen human spermatozoa during in vitro capacitation. Fresh and frozen human spermatozoa were incubated in Biggers, Whitten and Wittingham's medium supplemented with 15% heat-inactivated human serum. Both histoenzymological reactions can be quantitated and have been evaluated by microdensitometric method. The results indicate that human spermatozoa depend almost entirely on anaerobic glycolysis during in vitro capacitation and suggest that both aerobic and anaerobic metabolism in spermatozoa are only slightly impaired by freezing-thawing and storage

    Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans

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    Literature on the cytogenetics of dermatofibrosarcoma protuberans (DFSP) is limited; only I0 cases with chromosome aberrations have been reported. They are karyotypically characterized by the presence of supernumerary ring(s), either as the sole cytogenetic abnormality or together with a few additional structural or numerical changes. We report the cytogenetic and fluorescence in situ hybridization (FISH) analysis of three new DFSP, one primary and two recurrent tumors. In two cases we found a supernumerary ring as the sole change, whereas the third had two copies of a marker chromosome and monosomy of chromosome 22. Sequences of chromosomes I7 and 22 were identified by FISH in the supernumerary rings and in the markers. The fluorescence pattern suggested that additional sequences were present in the two rings, but showed that the marker chromosomes were entirely painted by chromosome 17 and 22 probes. The findings indicate that juxtaposition and/or amplification of chromosome 17 and 22 sequences could be crucial in the pathogenesis of DFSP

    Relevance of cytogenetic and fluorescent in situ hybridization analyses in the clinical assessment of soft tissue sarcoma

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    Soft tissue sarcomas are a heterogeneous group of malignant tumors displaying a wide range of clinical presentations, morphological features, and biological behaviors. These characteristics and the recent development of differentiated treatment regimens for the different types of soft tissue sarcomas call for refined histological classification using additional ancillary approaches such as cytogenetic and molecular genetic analyses. We coupled classical cytogenetics and fluorescent in situ hybridization (FISH) on both metaphases and interphase nuclei to show the feasibility of this approach to characterize tumor type-specific chromosome rearrangements in soft tissue sarcomas of different histotype. In 35 cases analyzed, we detected the presence of specific chromosome rearrangements such as t(X; 18) in synovial sarcoma (SS), t(12;16) in myxoid liposarcoma (MLS), t(11;22) in peripheral primitive neuroectodermal tumors (pPNET), t(2;13) in alveolar rhabdomyosarcoma (ARMS) and ring chromosomes in dermatofibrosarcoma protuberans (DFSP). In several cases, the presence of these cytogenetic rearrangements was of help for a differential diagnosis. The FISH analysis using painting probes not only confirmed the cytogenetic results but also allowed the identification of tumor-specific chromosome changes in those cases presenting low mitotic index or with poor quality chromosomes. Moreover, in the absence of analysable metaphases, FISH was successfully performed on interphase nuclei. Taken together, these results indicate both the diagnostic and clinical relevance of a molecular cytogenetic analysis in the study of soft tissue sarcomas

    The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2

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    PCR analysis of DNA from a selected panel of human‐rodent somatic cell hybrids and fluorescent in situ hybridization (FISH) analysis allowed us to localize the human ELEI gene. This previously uncharacterized gene is fused with the tyrosine kinase (tk) domain of the RET proto‐oncogene to generate the oncogenic sequence RET/PTC3, thus providing a third example of RET oncogenic activation in papillary thyroid carcinomas. ELEI was localized to band 10q11.2, the subband where RET also maps, at a minimum distance of more than 500 kb from the proto‐oncogene. The fusion event corresponding to the rearrangement reciprocal to that leading to the formation of RET/PTC3 was also identified and characterized. The karyotype of two RET/PTC3 positive tumors did not show any evidence of chromosome 10 abnormalities. The data indicate that a cytogenetically undetectable paracentric inversion within 10q11.2 generates RET/PTC3

    Milano verde. Un'idea per l'architettura e la città

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    Il libro presenta la lettura e il ridisegno del piano urbano per la zona Sempione Fiera detto “Milano verde” progettato da Franco Albini, Ignazio Gardella, Giulio Minoletti, Giuseppe Pagano, Giancarlo Palanti, Giacomo Predaval, Giovanni Romano. Si tratta di uno studio condotto attraverso documenti scritti e elaborati grafici originali che affronta un piano urbano così significativo per la cultura architettonica e urbana del nostro Paese, ma non solo. Il libro vuole anche essere l’occasione per una riflessione sulla possibilità dell’architettura di formulare ipotesi e soluzioni per costruire la città contemporanea, nonché un riconoscimento alla nostra storia urbana e agli architetti che ne costituiscono i capisaldi

    Mapping of a putative tumor suppressor locus to proximal 7p in Wilms tumors

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    Different findings suggest that alterations of chromosome 7 genes play a role in the development of Wilms tumors. To define the positions of these genes, we have accomplished a combined cytogenetic and molecular study on 11 sporadic Wilms tumors. In one case, where both chromosomes 7 were rearranged, the karyotypic picture was consistent with the presence of a tumor suppressor gene at 7p15. To test this hypothesis, a loss of heterozygosity analysis was performed using microsatellite markers. This revealed a common region of allele losses mapped to the proximal short arm of chromosome 7 and defined the position of the gene(s) involved in Wilms tumors within an interval of approximately 25 cM

    Genetic Evidence for an Independent Origin of Multiple Preneoplastic and Neoplastic Lung Lesions

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    Patients with a primary cancer in the lung or in the upper aerodigestive tract have an increased risk of developing synchronous or metachronous second primary lung tumors. This phenomenon has been related to the chronic exposure of the bronchial tree to carcinogens through a so-called “field cancerization” process. This study was designed to investigate at the somatic level the genetic basis of the field cancerization effect in patients having multiple simultaneous neoplastic and preneoplastic lesions of the lung. The pattern of specific genetic changes occurring with high frequency and in early stages of lung carcinogenesis including p53 mutations, deletions of chromosome 3p, and K-ras mutations, was investigated by immunocytochem-ical, cytogenetic, and molecular approaches in 11 synchronous lesions of five patients with multiple lung cancers. Different genetic lesions were observed in all of the pathological specimens analyzed from each patient The pattern of these changes was different both in topographically distant or adjacent lesions and in tumors with the same histopathological diagnosis supporting their independent origin. The present data provide further evidence of the clinical relevance of the field cancerization process, and support the use of genetic markers in the differential diagnosis of recurrence or metastasis versus second primaries of the lung
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