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Biomedical subjects

G Martinelli

Publications and source records attributed to G Martinelli.

At least 109 records · Page 6Linked to original sources
PubMed2000

Organ donation and transplantation as health programs in Italy.

Organ and tissue donation and transplantation have a role in public health programs as organizational projects designed by public health departments to increase the quality and number of donations and transplantations. These programs serve as communication projects to inform public opinion on cerebral death, organ and tissue shortages, procurement and allocation rules, and the quality of life of transplanted patients. The health department of Emilia-Romagna created a regional law and a multimedia communication program for these purposes, resulting in a 95% increase of cadaver donor in 4 years. In 1995, regional activity reached the European mean level and afterwards surpassed it. In 1997, the bone bank was activated, followed in 1998 by the heart valve and vascular segment bank. The regional health department now considers transplant activities a primary goal; human and professional relations between intensive care units and the transplant reference center are considered crucial; cooperation among health departments, medical teams involved in organ procurement and transplant activities has been fostered, and the local coordination network has been active and efficient. The public information campaign has proven important in providing information both to professionals and citizens.

Health Care Rationing↗
PubMed2000

Reliability of ultrasound screening of liver and kidney donors: a retrospective study.

The reliability of abdominal ultrasound in screening liver and kidney donors was assessed by correlating ultrasound findings with the suitability of organs for transplantation as determined by direct examination of the organs. We evaluated 100 multiorgan donors (100 livers, 200 kidneys) during a 15-month period. Abdominal ultrasound showed the following results for liver and kidney, respectively: specificity, 95.6% and 98.9%; sensitivity, 62.5% and 66.6%; and accuracy, 93% and 97%. These results show that abdominal ultrasound is a valuable tool for determining suitability of organs for transplantation when the ultrasound findings are normal. When ultrasound findings are abnormal, further studies are necessary to determine the suitability of the organs for transplantation.

Adolescent↗
PubMed2000

Molecular remission after allogeneic or autologous transplantation of hematopoietic stem cells for multiple myeloma.

PURPOSE: To assess the clinical relevance of minimal residual disease (MRD) in patients with multiple myeloma (MM), 50 patients were monitored while they were in complete clinical remission (CCR) after autologous or allogeneic stem-cell transplantation. PATIENTS AND METHODS: Stringent molecular monitoring using clonal markers based on rearranged immunoglobulin heavy-chain genes was performed in 44 of 50 MM patients in CCR. Molecular clinical remission (MCR) was defined as more than one consecutive negative polymerase chain reaction (PCR) test result. RESULTS: Twelve (27%) of 44 molecularly monitored patients achieved MCR; four of the 12 became PCR-positive, and one of these four relapsed. In comparison with patients who did not achieve MCR, patients who achieved MCR had a significantly lower relapse rate (41% v 16%; P <.05) and longer relapse-free survival (35 v 110 months; P <.005). Fourteen of 26 patients in CCR who had received allografts were evaluated on a molecular basis: seven (50%) of the 14 achieved MCR and did not relapse; one of the seven remaining patients relapsed. Thirty of 47 patients in CCR who received autografts were evaluated on a molecular basis: five (16%) of the 30 achieved MCR; two of these five became PCR-negative, and one of these two relapsed. Ten of the 25 remaining patients later relapsed. For these nonrandomized groups, the higher MCR rate after allograft procedures was statistically significant (P <.01; Fisher's exact test). CONCLUSION: MCR can be obtained in a relatively high proportion of MM patients who have achieved CCR after undergoing allograft procedures and in a smaller fraction of patients after undergoing autograft procedures. In approximately one fourth of MM patients who achieve CCR after transplantation, it may be possible to keep the disease burden constantly below the PCR threshold. Because MCR was associated with prolonged relapse-free survival, these patients could have a relatively favorable clinical outcome.

Adult↗
PubMed2000

Quantitative evaluation of BCR-ABL amount of transcript post mobilization with G-CSF of peripheral blood stem cells from chronic myeloid leukemia patients in cytogenetic response.

We studied nine patients affected by chronic myeloid leukemia (CML Ph+ and bcr-abl positive) and treated with alpha-interferon (alpha-INF) in order to: first, to evaluate the feasibility of a mobilization of peripheral blood stem cells induced by granulocyte-colony-stimulating factor (G-CSF) and the contamination by Ph+ cells and second, to quantify the amount of bcr-abl leukemia associated transcript by a quantitative assay during mobilization procedures, and post mobilization follow-up. Eight achieved a complete karyotypic remission before mobilization obtained with discontinuation of alpha-INF for few days and G-CSF at a dosage of 15 microg/kg/day for 5-7 consecutive days. By quantitative-competitive polymerase chain reaction (QC-PCR) assay, all the leukaphereses and bone marrow samples during post mobilization follow up were studied to determine the amount of bcr-abl transcript. Karyotypic and molecular analysis on evaluable leukapheresis showed that all the harvests were Ph negative and bcr-abl positive: in seven cases the levels of bcr-abl transcript were higher or equal to the pre-apheresis status. In three out of four patients, who underwent more than one leukapheresis procedure, we noticed a decreasing amount of bcr-abl contamination from the first to the last apheresis. Our results suggest that in patients who achieved a complete or major cytogenetic conversion with alpha-INF, it is possible to obtain a sufficient amount of PBSC for autografting by leukapheresis following priming G-CSF therapy and that the amount of neoplastic transcript does not seem to increase.

Adolescent↗
PubMed2000

Screening of Bcr-Abl transcripts in Philadelphia negative essential thrombocythemia.

Essential thrombocythemia (ET) is a chronic myeloproliferative disorder characterised by the absence of the Philadelphia (Ph+) chromosome. Recent studies have reported controversial results relating to BCR-ABL rearrangements in ET patients. We studied 44 Ph-negative ET patients with the RT-PCR technique at diagnosis or during the follow-up. None of them showed any of the BCR-ABL transcript actually described by others in ET; neither the "classical" P210 nor the P190 or P230 variants. Our results confirm the absence of BCR-ABL abnormalities in Ph-negative ET patients.

Adult↗
PubMed2000

Alu and translisin recognition site sequences flanking translocation sites in a novel type of chimeric bcr-abl transcript suggest a possible general mechanism for bcr-abl breakpoints.

BACKGROUND AND OBJECTIVE: We further characterized a novel type of chimeric BCR-ABL mRNA transcript detected in a patient with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML). DESIGN AND METHODS: We used reverse-transcription polymerase chain reaction (RT-PCR) and sequence analysis of the fusion region of the amplified cDNA fragment. Western analysis was performed on total protein. RESULTS: Part of exon e8 of the BCR gene was joined to an intronic sequence of ABL intron Ib spliced on exon a2 of the ABL gene, giving rise to an in-frame e8-int-a2 BCR-ABL transcript. Only part of exon 8 of the BCR gene (e8) (intra-exonic break) was retained. The consequent BCR-int-ABL transcript was translated into a BCR-ABL protein of 1804 amino acid residues with a molecular mass of 197.5 kilodaltons (kDa) called p200 BCR-ABL. The 3' part of bcr exon 8 recombined within or alongside Alu elements at the additional sites. Sequence motifs similar to consensus binding sites of the lymphoid-associated TRAX and translisin proteins were present on both participating strands at 22q11 and 9q34 recombination sites, respectively. No differences in clinical or laboratory findings at diagnosis were found between this patient and CML patients with bcr-abl fusion. INTERPRETATION AND CONCLUSIONS: The presence of Alu sequences and of the translisin binding motif on both sides of the breaks in this novel translocation suggests a possible general mechanism of molecular recombination in CML patients.

Alu Elements↗
PubMed2000

[Vegetative state. Practice guideline for its diagnosis and treatment].

Vegetative state (VS) is a clinical condition in which patients have lost both their consciousness content and alertness. So defined, it seems a simple diagnosis to achieve. However, facts disprove this idea, and indeed a striking evidence exists that doctors are unable to satisfactorily diagnose VS. In this series of 3 articles, a multi-disciplinary Italian working group proposes solutions in order to properly diagnose VS (Part I) and to differentiate it from other apparently similar situations (part II). Consciousness, coma and VS state are clearly defined and the reader is provided with easy-to-use methods to achieve the goal. Differential diagnosis includes the locked-in syndrome, the akinetic mutism, and the minimally conscious state, this latter being a challenging situation, which deserves great reader's attention. In the last part the authors afford the delicate argument on when and how a VS can be defined as permanent. Modern research on the use of magnetic resonance imaging in trauma patients and evoked potentials in anoxic patients are presented, and a flow-chart rationalizes the process of outcome prediction. Rehabilitation programs are also indicated to facilitate the continuum of care from the acute to post-acute phase. Lastly, the authors propose the problem of whether interventions are worth doing in such an extremely disabled population. No definite answers are given, and question remains open to discussion. It could not have been that so: doctors cannot be the only judge when a life worth living or not is to be sentenced.

Humans↗
PubMed2000

Clinical value of quantitative long-term assessment of bcr-abl chimeric transcript in chronic myelogenous leukemia patients after allogeneic bone marrow transplantation.

BACKGROUND AND OBJECTIVE: For purposes of therapeutic decision making, we used quantitative polymerase chain reaction (PCR) for molecular follow-up of 55 patients with chronic myeloid leukemia (CML) in complete remission (CR) after allogeneic bone marrow transplantation (BMT) from HLA compatible donors. DESIGN AND METHODS: A total of 402 bone marrow samples from 40 patients transplanted in chronic phase (group 1) and 15 in accelerated/blastic phase (group 2) were analyzed by qualitative and quantitative PCR. RESULTS: Regarding clinical outcome, 34/40 (85%) group 1 vs. 8/15 (54%) group 2 patients are alive. Only 1/40 (2.5%) group 1 patient relapsed, as against 6/15 (40%) in group 2 (p = 0. 0002). At qualitative PCR, 8/40 (19%) group 1 vs. 9/15 (60%) group 2 patients were positive, with a significantly greater total number of positive samples in group 2 (33/129, 27% vs. 16/273, 5%; p<0.001). The probability of qualitative PCR positivity >1 year after BMT was significantly lower in group 1 patients (4/40 pts, 10% vs. 9/15 pts, 60%; p = 0.01). At quantitative PCR, 4/8 (50%) group 1 patients were positive only once (< 400 transcripts/microg RNA). In group 2, 9/15 (60%) patients had 3 or more positive samples (always with >4,000 copies/mg RNA); therapeutic interventions (cyclosporin A discontinuation, temporary a-interferon or donor lymphocyte infusion) restored molecular remission in 4/9 (44%) cases. INTERPRETATION AND CONCLUSIONS: This study indicates that quantitative PCR could provide practical indications capable of directing therapeutic interventions for transplanted CML patients, especially those transplanted in accelerated/blastic phase, for whom intensive monitoring is required.

Adolescent↗
PubMed2000

Polymerase chain reaction-based detection of minimal residual disease in multiple myeloma patients receiving allogeneic stem cell transplantation.

BACKGROUND AND OBJECTIVES: Recent advances in the treatment of multiple myeloma (MM) include use of high-dose chemoradiotherapy followed by allografting. Although allografting with bone marrow (BM) or peripheral blood stem cells (PBSC) seems to improve clinical outcome and lengthen survival, only about 50% of patients reach stringently defined complete remission (CR), and most subsequently relapse. We assessed the clinical relevance of minimal residual disease (MRD) in 14 MM patients in CR after allografting with PBSC (6 patients) or BM (8 patients). DESIGN AND METHODS: Among the 30 out of 72 MM patients in our Institute who achieved CR after allografting, 14 had a molecular marker suitable for allo-specific polymerase chain reaction (PCR) analysis. Stringent molecular monitoring was done using clonal markers based upon rearranged immunoglobulin heavy-chain genes. Molecular remission (MCR) was defined as two consecutive negative PCR results. RESULTS: Seven of 14 (50%) molecularly monitored patients, achieved MCR and did not relapse after a median molecular follow-up of 60 months (range 36-120). Median time to obtain first PCR negativity was 12 (BM group) and 6 months (PBSC group), respectively. Of the seven patients (50%) who never achieved MCR, one relapsed. INTERPRETATION AND CONCLUSIONS: In conclusion, 50% of the MM patients in CR studied by us also achieved stringently-defined MCR. MCR was associated with a very low rate of clinical relapse.

Adult↗
PubMed2000

[The transplant coordinator].

Spain was the first European country adopting a strategy of organ procurement based on a specific health professional named transplant coordinator, who was first established in Catalunya in the middle eighties. In principle, the transplant coordinator is a doctor with hospital experience who is involved full time in organ procurement. The transplant coordination activity is available without interruption, due to a team work. Transplant coordination is based on four main functions: clinical, research, training and communication, management. The principles of transplant coordination according to the Spanish model are reported in the recently approved Italian law on transplantation (law 91/1999), indicating the coordinator's specific functions: a) communication to the regional reference centre of the data concerning the possible organ donors, b) preparation of the documents needed, c) relationship with the donors' family, d) information and education of the population on transplantation issues.

Humans↗
PubMed1999

Presenilin-1 forms complexes with the cadherin/catenin cell-cell adhesion system and is recruited to intercellular and synaptic contacts.

In MDCK cells, presenilin-1 (PS1) accumulates at intercellular contacts where it colocalizes with components of the cadherin-based adherens junctions. PS1 fragments form complexes with E-cadherin, beta-catenin, and alpha-catenin, all components of adherens junctions. In confluent MDCK cells, PS1 forms complexes with cell surface E-cadherin; disruption of Ca(2+)-dependent cell-cell contacts reduces surface PS1 and the levels of PS1-E-cadherin complexes. PS1 overexpression in human kidney cells enhances cell-cell adhesion. Together, these data show that PS1 incorporates into the cadherin/catenin adhesion system and regulates cell-cell adhesion. PS1 concentrates at intercellular contacts in epithelial tissue; in brain, it forms complexes with both E- and N-cadherin and concentrates at synaptic adhesions. That PS1 is a constituent of the cadherin/catenin complex makes that complex a potential target for PS1 FAD mutations.

Animals↗