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Biomedical subjects

A Neri

Publications and source records attributed to A Neri.

At least 55 records · Page 3Linked to original sources
PubMed1999

Variability of polymerase chain reaction detection of the bcl-2-IgH translocation in an international multicentre study.

BACKGROUND: The capacity of the polymerase chain reaction (PCR) to detect very low numbers of cells bearing a t(14;18) translocation has led to its application in assessment of the results of treatment for follicular lymphoma, and suggestions that therapy might be guided by molecular studies. To test the reliability of PCR a collaborative study was undertaken to compare results from different laboratories in Europe and North America. METHODS: Twenty laboratories with records of publication in molecular diagnostics were sent blood from normal donors with varying numbers of t(14;18)-bearing cells added from a cell line with a translocation in the major breakpoint region (MBR) of the bcl-2 gene. Samples contained 1000, 100, 10, 1 or 0 cells per ml of whole blood and were sent blinded in duplicate. PCR methodology varied widely, with the total number of amplification cycles between 30 and 70, and 13 different primers used for the MBR region. Twelve laboratories used nested PCR and eight single round amplification. RESULTS: The sensitivity of nested and single round PCR was similar at 100 cells/ml but below this the nested method proved significantly more sensitive. The false positive rate was 28%, with 11 samples from 9 laboratories reported as positive when no t(14;18) cells were added. PCR product size and sequence analysis showed that false positives were due to contamination from cell-line DNA rather than background translocations in the donors. There was no significant difference in false positive rates between nested and single round techniques. CONCLUSION: The polymerase chain reaction to detect bcl-2-IgH rearrangements is presently carried out with widely disparate results. Further effort is required to bring forward a standard PCR protocol which can be re-tested in different laboratories to improve accuracy and reproducibility. The application of quantitative techniques such as real-time PCR may resolve many of the problems presently encountered.

Adult↗
PubMed1999

Clinical relevance of expression of the CIP/KIP cell-cycle inhibitors p21 and p27 in laryngeal cancer.

PURPOSE: To investigate the prognostic relevance of p21 and p27 protein expression in laryngeal squamous cell carcinoma (LSCC). PATIENTS AND METHODS: We have analyzed by immunohistochemistry p21 and p27 expression in a series of 132 patients who underwent surgical resection of their LSCC and who had previously been investigated for p53 gene mutations and cyclin D1 expression. The tumors were considered low expressors when they had </= 10% of p21 and </= 50% of p27 immunoreactive neoplastic cells. RESULTS: In 41 cases (31.1%), p21 was expressed in </= 10% of neoplastic cells; in 91 cases (68.9%), it was expressed in more than 10% of neoplastic cells. In 11 cases (8.3%), p27 was expressed in less than 5% of neoplastic cells; in 39 cases (29.6%), it was expressed in 5% to 50% of neoplastic cells; and in 82 cases (62.1%), it was expressed in more than 50% of the neoplastic cells. Low levels of p21 expression were associated with poor histologic differentiation and lymph node metastases. Low levels of p27 expression were associated with tumor extension and advanced clinical stage. Expression of p21 and p27 was not correlated with p53 gene status, and low p27 expression was more frequently detected in the cyclin D1-positive cases, with a borderline level of statistical significance. At univariate analysis, anatomic site, tumor extension, clinical stage, high cyclin D1 expression, and low p27 expression were significantly associated with reduced disease-free and overall survival rates. At multivariate analysis, high cyclin D1 expression and low p27 expression were the only significant covariates. The patients with a cyclin D1(+)/p27(-) phenotype had the poorest disease-free and overall survival rates. CONCLUSION: Our study provides evidence that the immunohistochemical evaluation of p27 expression is a significant independent predictor of prognosis in laryngeal carcinoma.

Adult↗
PubMed1999

Endometrial polyps during menopause: characterization and significance.

BACKGROUND: To characterize postmenopausal women with endometrial polyps and to evaluate their significance. METHODS: The study population included all consecutive postmenopausal patients with a diagnosis of endometrial polyp, treated at our center over a two-year period. Demographic, medical and gynecological data were assessed with regard to the endometrial histologic findings. RESULTS: Of the 146 eligible patients, 15 had endometrial hyperplasia (four with atypia); there were no cases of endometrial carcinoma. The 20 patients (13.7%) using hormone replacement therapy had a significantly higher rate of endometrial hyperplasia than non-hormone users (p<0.006). No differences were observed among the endometrial histological categories for any of the presenting symptoms and signs, ultrasonographic findings, or medical histories. CONCLUSIONS: Postmenopausal endometrial polyp is a common, mostly benign entity. However, the relatively high rate of concomitant endometrial hyperplasia, especially in patients receiving hormone replacement therapy, dictates a thorough histological evaluation in all cases.

Aged↗
PubMed1998

BCL-6 mutations in normal germinal center B cells: evidence of somatic hypermutation acting outside Ig loci.

The molecular mechanism involved in the process of antigen-driven somatic hypermutation of Ig genes is unknown, but it is commonly believed that this mechanism is restricted to the Ig loci. B cell lymphomas commonly display multiple somatic mutations clustering in the 5'-regulatory region of BCL-6, a proto-oncogene encoding for a POZ/Zinc finger transcriptional repressor expressed in germinal center (GC) B cells and required for GC formation. To determine whether BCL-6 mutations represent a tumor-associated phenomenon or reflect a physiologic mechanism, we screened single human tonsillar GC B cells for mutations occurring in the BCL-6 5'-noncoding region and in the Ig variable heavy chain sequences. Thirty percent of GC B cells, but not naive B cells, displayed mutations in the 742 bp region analyzed within the first intron of BCL-6 (overall frequency: 5 x 10(-4)/bp). Accordingly, an expanded survey in lymphoid malignancies showed that BCL-6 mutations are restricted to B cell tumors displaying GC or post-GC phenotype and carrying mutated Ig variable heavy chain sequences. These results indicate that the somatic hypermutation mechanism active in GC B cells physiologically targets non-Ig sequences.

B-Lymphocytes↗
PubMed1998

Clinical relevance of p53 and bcl-2 protein over-expression in laryngeal squamous-cell carcinoma.

We investigated immunohistochemically the clinical relevance of the over-expression of the apoptosis-regulating proteins p53 and bcl-2 in a homogeneous series of 149 laryngeal squamous-cell carcinomas. p53 was over-expressed in 75 cases and bcl-2 in 39 cases. p53 and bcl-2 co-expression was found in 21 cases. p53 and bcl-2 immunoreactivity was significantly associated with poor histological differentiation and lymph-node metastases. Moreover, a significant statistical correlation was found between bcl-2 expression, supraglottic tumor site and advanced disease stage. p53/bcl-2 co-expression was significantly associated with poor differentiation, tumor extension, the presence of lymph-node metastases and advanced clinical stage. Univariate analysis showed that a lower probability of survival was significantly associated with supraglottic site, tumor extension, advanced clinical stage and p53/bcl-2 co-expression, but not with p53 or bcl-2 considered separately. In multivariate analysis, only tumor extension and supraglottic site retained their prognostic value. Our data suggest that clinical staging remains the most reliable predictive indicator of survival in patients with laryngeal carcinoma.

Adult↗
PubMed1998

Low-grade MALT lymphoma involving multiple mucosal sites and bone marrow.

Mucosa-associated lymphoid tissue (MALT) lymphomas are indolent neoplasms which tend to remain localized for a long time before spreading. We describe here the case of a 36-year-old woman with a low-grade MALT lymphoma involving the lung, stomach, lingual tonsil, and bone marrow at the time of diagnosis. The clonal origin of the pulmonary and bone marrow neoplastic infiltrates was assessed by means of gene rearrangement analysis. All of the involved sites were infiltrated by centrocyte- and monocytoid-like cells expressing the B-cell-associated antigens CD19 and CD20 and showed IgM lambda chain restriction; no CD5, CD10, or CD43 expression was detectable. As the patient had a history of recurrent bronchitis, and computed tomography performed 3 years before the lymphoma diagnosis had already revealed a lesion of the left lung, we conclude that the present case probably represents a pulmonary low-grade MALT lymphoma characterized by an early and unusual involvement of different mucosal sites and bone marrow.

Adult↗
PubMed1998

Transcutaneous electrical nerve stimulation (TENS) for adjuvant pain-relief during labor and delivery.

OBJECTIVE: We examined the efficacy of transcutaneous electrical nerve stimulation (TENS) in general and the new Freemom TENS device (LifeCare, Israel) in particular, for pain relief during labor and delivery. METHODS: The study group consisted of 104 women. Forty-six nulliparas (44.2%) and 58 multiparas (55.8%), all of whom used the TENS device for pain relief during labor. All participants completed a questionnaire on the degree of pain relief afforded them by TENS during the delivery and related questions. The objective evaluation was based on the documented labor and delivery parameters including medical interventions during delivery. RESULTS: The majority of subjects (72% of the nulliparas and 69% of the multiparas) considered TENS effective for the relief of pain during labor. Most of them (67% of the nulliparas and 60% of the multiparas) responded positively to the use of TENS in future deliveries. Sixty-five percent of the multiparas considered TENS at least as effective as the other pain relief methods they had used before. TENS significantly reduced the duration of the first stage of labor P < 0.001 for nulliparas, P < 0.005 for multiparas and it significantly decreased the amount of analgesics administered to individual patients. No significant difference was found in fetal heart rate tracings, Apgar scores and cord blood pH between the study group and an equal number of matched controls who used other forms of pain management. CONCLUSIONS: TENS is an effective non-pharmacological, non-invasive adjuvant pain relief modality for use in labor and delivery. TENS application reduced the duration of the first stage of labor and the amount of analgesic drug administered. There were no adverse effects on mothers or newborns.

Adolescent↗
PubMed1998

The predictive value of p53, MDM-2, cyclin D1 and Ki67 in the progression from low-grade dysplasia towards carcinoma of the larynx.

To evaluate the predictive role of the oncogenes p53, MDM-2 and cyclin D1, and the proliferative marker Ki67, in the progression from low-grade dysplasia to carcinoma of the larynx. We studied immunohistochemically a series of 32 low-grade pre-neoplastic laryngeal lesions, 10 of which progressed to invasive carcinoma. Immunoreactivity in more than 10 per cent of the dysplastic cells was detected in five cases immunostained with anti-p53 (approximately 15 per cent), in two with anti-MDM-2 (approximately six per cent), and 11 with anti-Ki67 antibodies (approximately 34 per cent), whereas none of the cases showed cyclin D1 overexpression. No significant association was found between p53 and MDM-2 immunoreactivity and the evolution to carcinoma; on the contrary, Ki67 expression was detectable in all but one of the 10 cases developing an infiltrative tumour (90 per cent), and in two of the 22 cases that did not progress (approximately nine per cent) (p = 0.01). These findings indicate that immunohistochemical assessment of the proliferative index in bioptic samples of dysplastic laryngeal mucosa may be useful in selecting patients who should undergo a more specific follow-up evaluation.

Adult↗
PubMed1998

Treatment and prognosis in a series of primary extranodal lymphomas of the ocular adnexa.

BACKGROUND: The aim of this study was to assess clinicopathological characteristics and outcome in a series of primary ocular adnexal lymphomas (POALs). PATIENTS AND METHODS: Nineteen patients with localised (stage IE) POAL were followed for a median of 96 months (24-156). The diagnosis was based on surgical biopsies followed by immunohistochemistry in 16 cases or fine-needle aspiration followed by immunocytophenotypic analysis in three cases. Twelve patients were treated with local radiotherapy (RT), five with chemotherapy (CT), and two refused further therapy after apparently radical tumour removal achieved by the diagnostic excisional biopsy. RESULTS: The histological and immunological pattern was consistent with a diagnosis of MALT-type lymphoma (11 cases), follicular center non-Hodgkin's lymphoma (three cases). a large-cell variant of Burkitt's lymphoma (one case), and large-cell transformed MALT lymphoma (one case). Low-grade lymphoma was diagnosed in the three cases which underwent fine-needle aspiration biopsy. All of the patients achieved and maintained complete remission except for those treated with surgical excision alone (two MALT conjunctival lymphoma cases): one of these relapsed locally, the other experienced the systemic spread of a transformed diffuse large-cell lymphoma and died 72 months after diagnosis. The side effects consisted of two cases of RT-related cataract after 52 and 72 months. CONCLUSIONS: Regardless of histology, prognosis was excellent when surgery plus RT was adopted, and CT seems to be a valid alternative to RT. Surgery alone may be sub-optimal.

Adult↗
PubMed1998

Clinical relevance of cyclin D1 protein overexpression in laryngeal squamous cell carcinoma.

PURPOSE: To investigate the prognostic relevance of cyclin D1 gene overexpression in laryngeal squamous cell carcinomas (LSCCs). PATIENTS AND METHODS: The overexpression of cyclin D1 was analyzed in 149 LSCC patients with a median follow-up duration of 60 months using the DCS6 monoclonal antibody; only cases that overexpressed cyclin D1 in more than 5% of neoplastic cells were considered positive. RESULTS: Forty-eight cases (32.2%) were immunoreactive to the DCS6 antibody. Cyclin D1 overexpression was significantly associated with tobacco smoking and alcohol consumption, tumor extension, advanced clinical stage, and the presence of lymph node metastases. Univariate analysis showed that a shorter disease-free and overall survival were significantly associated with supraglottic site, tumor extension, advanced clinical stage, and cyclin D1 overexpression. At multivariate analysis, tumor extension and cyclin D1 overexpression were significantly associated with tumor recurrence, whereas tumor extension, supraglottic site and, at a borderline level of statistical significance, cyclin D1 overexpression, were associated with reduced overall survival. CONCLUSION: The overexpression of cyclin D1 in LSCC is associated with unfavorable clinicopathologic features and represents an independent significant predictor of laryngeal carcinoma prognosis, particularly for disease-free survival. This indicates that cyclin D1 evaluation may be a further useful element for selecting subgroups of patients who should be treated with more aggressive therapies.

Adult↗
PubMed1998

Sonographic characteristics of various types of intrauterine contraceptive devices.

OBJECTIVE: We sought to demonstrate the usefulness of ultrasonography for the in utero identification of different types of intrauterine contraceptive devices. METHODS: We used sonography to differentiate among types of intrauterine contraceptive devices. RESULTS: Each type of intrauterine contraceptive device had typical sonographic characteristics, in most cases, best demonstrated in the axial plane. Photographs of each type are shown and their sonographic appearance is discussed. CONCLUSION: Sonographic identification of intrauterine contraceptive devices is accurate and specific. Sonography may serve as a useful method for determining the time to change the device and to identify those types that are more prone to complications.

Equipment Design↗
PubMed1998

Plasmablastic lymphoma of the stomach. A case report.

We report the case of a 53 year-old woman with a gastric tumor showing morphological, phenotypical and molecular features of a plasmablastic lymphoma, a recently recognized subtype of diffuse large B-cell lymphoma. The tumor was composed of plasmablast-like cells, lacked CD45 and B-cell associated antigens, expressed the plasma cell-associated antigen CD38, and showed clonally rearranged IgH genes in the absence of bcl-2 and bcl-6 genes rearrangement.

Female↗
PubMed1997

Identification of a novel gene, PSD, adjacent to NFKB2/lyt-10, which contains Sec7 and pleckstrin-homology domains.

We have identified a novel human gene on chromosome 10q24 located contiguously to the 3' end of the NFKB2/lyt-10 gene in a tail to tail arrangement. We describe here a cDNA of 4307 bp, isolated from an adult human brain cDNA library, which contains an open reading frame encoding a putative protein of 645 amino acids with a predicted molecular weight of 71 kDa. Database homology searches indicate that this is a novel gene coding for a putative protein containing two discrete domains with significant homology to the Sec7 and pleckstrin-homology (PH) domains, respectively. We named this gene PSD (plekstrin-Sec7 domains gene). Northern blot analysis of a panel of RNAs from normal human tissues using the PSD cDNA as probe revealed the presence of three different tissue-specific transcripts of approximately 4.3, 2.3, and 1.8 kb, the longest of which is expressed only in brain. Our data suggest that the PSD gene may code for a protein related to a recently identified protein family containing both the Sec7 and the PH domains thought to be involved in signaling transduction processes.

Amino Acid Sequence↗
PubMed1997

A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene.

Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus at chromosome 14q32 represent a common mechanism of oncogene activation in lymphoid malignancies. In multiple myeloma (MM), the most consistent chromosomal abnormality is the 14q+ marker, which originates in one third of cases through a t(11; 14)(q13; q32) chromosomal translocation; in the remaining cases, the identity of the partner chromosomes has not been well established. We used a Southern blot approach based on the linkage analysis of the joining (J) and the constant (C) mu, alpha, and gamma regions to detect cases bearing IGH switch-mediated chromosomal translocations. We evaluated DNA of 88 nonkaryotyped patients with MM (78 cases) or plasma cell leukemia (PCL) (10 cases) and found the presence of "illegitimate" rearranged IGH fragments (no comigration between the J and C regions) in 21 cases. To confirm this analysis, we cloned the illegitimate rearranged fragments from three samples, and the molecular and fluorescent in situ hybridization (FISH) analyses indicated the presence of chromosomal translocations juxtaposing a switch IGH region to sequences from chromosomes 11q13 (one PCL case) or 4p16.3 (two MM cases). Interestingly, the breakpoints on 4p16.3 occurred about 14 kb apart in a genomic region located approximately 50 kb centromeric to the fibroblast growth-factor receptor 3 (FGFR3) gene. Moreover, Southern blot analysis using 4p16.3 genomic probes detected a rearrangement in an additional MM tumor. FISH analysis of the MM-derived KMS-11 cell line, reported to be associated with a t(4; 14)(p16.3; q32), showed that the FGFR3 gene was translocated on 14q32. High levels of FGFR3 mRNA expression were observed in the cloned MM tumors and KMS-11 cell line, but not in the cases that were apparently negative for this lesion. Furthermore, a point mutation at codon 373 in the transmembrane domain of the FGFR3 gene resulting in an amino acid substitution (Tyr --> Cys) was detected in the KMS-11 cell line. These findings indicate that the t(4; 14)(p16.3; q32) represents a novel, recurrent chromosomal translocation in MM, and suggest that the FGFR3 gene may be the target of this abnormality and thus contribute to tumorigenesis in MM.

Base Sequence↗