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F Porta

Publications and source records attributed to F Porta.

At least 19 recordsLinked to original sources

Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation.

The treatment of Wiskott-Aldrich syndrome (WAS), a once uniformly fatal disorder, has evolved considerably as the use of hematopoietic stem cell transplant has become more widespread. For the majority of patients who lack an human leukocyte antigen-identical sibling, closely matched unrelated donor bone marrow transplant (MUD BMT) at an early age is an excellent option that nevertheless is not uniformly chosen. We retrospectively analyzed our experience with transplantation in 23 patients with WAS from 1990 to 2005 at the University of Brescia, Italy, of whom 16 received MUD BMT. Myeloablative chemotherapy was well tolerated with median neutrophil engraftment at day 18, and no cases of grade III or IV graft-vs-host disease. Overall survival was very good with 78.2% (18/23) of the whole cohort and 81.2% (13/16) of MUD BMT recipients surviving. Among 18 survivors, full donor engraftment was detected in 12 patients, and stable mixed chimerism in all blood lineages in four patients. Deaths were limited to patients who had received mismatched related BMT or who had severe clinical symptomatology at the time of transplantation, further emphasizing the safety and efficacy of MUD BMT when performed early in the clinical course of WAS.

Child, Preschool↗

Mortality from second tumour among long-term survivors of retinoblastoma: a retrospective analysis of the Italian retinoblastoma registry.

Survivors of retinoblastoma (Rb) are at high risk of dying from second malignant tumour. The occurrence of second malignant neoplasm (SMN) and related mortality in a cohort of 1111 cases from the Italian Retinoblastoma Registry was analysed, considering the possible role of both genetic and iatrogenic causes. Rb patients had a greater than 10-fold excess in overall mortality compared with the general population (standardized mortality ratio (SMR) 10.73, 95% CI 9.00-12.80). Their excess risk attributable to cancers other than Rb was 14.93 95% CI 10.38-21.49). Survivors of hereditary Rb had an SMR for all causes of 16.25 (95% CI 13.20-20.00), whereas their SMR for all cancers was 25.72 (95% CI 17.38-38.07). Survivors of unilateral sporadic Rb had an SMR of 4.12 from all cancers (95% CI 1.55-10.98) and a much higher excess for overall mortality (SMR 13.34, 95% CI 10.74-16.56). As expected, survivors of hereditary Rb had higher mortality from cancers of the bone (SMR 391.90, 95% CI 203.90-753.20) and soft tissue (SMR 453.00, 95% CI 203.50-1008.40), small intestine (SMR 1375.50, 95% CI 344.00-5499.70), nasal cavity (SMR 13.71, 95% CI 1.93-97.35) and cancers of the brain and central nervous system (SMR 41.14, 95% CI 13.2-127.55).

Cohort Studies↗

Indications on suitable scaffold as carrier of stem cells in the alveoloplasty of cleft palate.

Autologous iliac crest bone is used to close the residual alveolar bone defect in cleft palate patients during late mixed dentition. Surgery involves physical and anaesthesiologic risks, long-time hospitalization, high costs and not always good results (15% failure rate). Alternatives to iliac crest bone grafting are going to be evaluated: synthetic, xenograft and allograft matrices combined with platelet-rich plasma or recombined bone morphogenic proteins for osteoinductivity are commercially available. These alternatives have not yet been determined to be equivalent to the previous treatment. A new field of research is represented by stem cells, which have been also used to regenerate ischaemic cardiac tissue after heart attack, to treat hypophosphatasia and osteoporosis. Our aim was to use osteoblasts from stem cells to close the residual palate cleft in association with a suitable carrier. Stem cells are expanded in the Aastrom bioreactor, differentiated into osteoblasts and positioned in the bone defect by means of a Spongostan scaffold. This scaffold has the best characteristics as commercial availability, low cost, good manageability, absence of allergic reactions or other side effects on patient, biocompatibility, imbibition, radiotransparency, reabsorbability and osteoinductivity. Previous studies encourage Spongostan scaffold application.

Alveoloplasty↗

[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up].

We report a case of an infant admitted to our division at 50 days of age, who presented acute abdomen, respiratory insufficiency, skeletal abnormalities, craniofacial dismorphism, low gain of weight. Despite negative at neonatal screening for hypothyroidism, laboratory analyses showed marked decrease of all pituitary hormones but ACTH, and low levels of cortisol. Magnetic resonance was indicative of adenohypophysis agenesis with maintained neurohypophysis. Results of substitutive therapy are reported.

Follow-Up Studies↗

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.

We retrospectively analyzed the outcome of hematopoietic stem cell transplantations (HSCT) performed at our Center between 1991 and 2002 in 11 unselected patients with Omenn syndrome, a variant of severe combined immunodeficiency. The patients' mean age at the time of the first HSCT was 8.4 months. Two patients received two, and one patient three, HSCT procedures. The resulting 15 HSCT derived in seven cases from HLA-haploidentical parents, in four patients from matched unrelated donors, in three cases from an HLA phenotypically identical related donor, and in one case from an HLA genotypically identical family donor. Nine out of 11 patients are alive and immunoreconstituted 30-146 months after transplantation. At the time of the most recent evaluation, all of the nine survivors had normal T-cell function, and eight of them had developed normal antibody production. This study demonstrates an overall mortality of 18.2%, which is substantially lower than previously reported. Early recognition of OS, rapid initiation of adequate supportive treatment and HSCT lead to improved outcome for this otherwise fatal disease, regardless of the origin and matching of hematopoietic stem cells.

Adult↗

Oxygen extraction in pigs subjected to low-dose infusion of endotoxin after major abdominal surgery.

BACKGROUND: Sepsis may impair O(2) extraction due to blood flow redistribution or decreased utilization of the available oxygen. METHODS: We assessed the effect of endotoxemia on systemic and regional O(2) extraction and lactate handling in pigs, randomized to receive either endotoxin (0.4 microg kg(-1) h(-1); n = 10) or saline infusion (controls; n = 9) for 12 h. RESULTS: High baseline regional and systemic O(2) extraction in the endotoxin group (median 56%, range 45-77%) and in the controls (67%, 49-72%) was maintained until the end of the experiment (endotoxin group: 60%, 50-71%; controls: 60%, 50-74%) despite hypotension and a decrease in stroke volume in endotoxic animals. Hepatic lactate exchange decreased during endotoxemia from 14 micromol kg(-1) min(-1) (range 10-28 micromol kg(-1) min(-1)) to 10 (range 3-15) micromol kg(-1) min(-1); P < 0.01), but remained stable in the controls, with 13 micromol min(-1) (4-18 micromol min(-1)) at baseline and 7 micromol min(-1) (3-17 micromol min(-1)) after 12 h of saline infusion. CONCLUSIONS: The high and sustained oxygen consumption and oxygen extraction in this endotoxemic model speak against any major impairment of hepatosplanchnic or systemic oxygen extraction and oxidative metabolism. The reduced hepatic lactate exchange despite an unchanged hepatic lactate influx suggests altered metabolic activities independent of oxygen consumption.

Abdomen↗

Evaluating daily nursing use and needs in the intensive care unit: a method to assess the rate and appropriateness of ICU resource use.

BACKGROUND: We designed a tool to measure the rate and appropriateness of intensive care unit (ICU) nursing coverage as a proxy for the use of resources. METHODS: We tested the tool in 32 Italian ICUs during a cross-sectional study (4 days/week, October 2001 and April 2002). The level of care was classified as high or low. The appropriate patient-to-nurse ratio for both levels (2/1 and 3/1 in this ICU mix) was defined. The provided and theoretical nurse assistance was computed, the difference between the two quantifying the ICU use of personnel: a positive difference means over-utilization, a negative one under-utilization. We calculated the maximum number of high-level and low-level care days available for ICU and the relative utilization rates. These two rates quantify the appropriateness of resource use in relation to the planned use. RESULTS: Analysing 5783 treatment-days, the tool identified units using almost all available resources (five), overcrowded (14: too small units) or empty (16: too big). Units were overcrowded on account of the high-level of care required (five: utilization rate >100%) or reallocated too much of their residual high-care nursing capacity to low-level care (six). In empty units both utilization rates were lower than expected. CONCLUSIONS: The method quantifies the rate and appropriateness of resource usage and suggests the best management in units with fixed human resources or a fixed number of beds.

Cross-Sectional Studies↗

Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report.

A retrospective analysis was made of 122 children who had received an allogeneic haematopoietic stem cell transplantation (HSCT) for autosomal recessive osteopetrosis between 1980 and 2001. The actuarial probabilities of 5 years disease free survival were 73% for recipients of a genotype HLA-identical HSCT (n=40), 43% for recipients of a phenotype HLA-identical or one HLA-antigen mismatch graft from a related donor (n=21), 40% for recipients of a graft from a matched unrelated donor (n=20) and 24% for patients who received a graft from an HLA-haplotype-mismatch related donor (n=41). In the latter group, a trend towards improvement was achieved at the end of the study period (17% before 1994, 45% after 1994, P=0.11). Causes of death after HSCT were graft failure and early transplant-related complications. Severe visual impairment was present in 42% of the children before HSCT. Conservation of vision was better in children transplanted before the age of 3 months. Final height was related to height at the time of HSCT and better preserved in children transplanted early. Most children attended regular school or education for the visually handicapped. At present, HSCT is the only curative treatment for autosomal recessive osteopetrosis and should be offered as early as possible.

Body Height↗

Description of trends in the course of illness of critically ill patients. Markers of intensive care organization and performance.

OBJECTIVE: To identify objective trends of the course of illness that might be used as benchmarks in the auditing of the organization/performance of Intensive Care Units (ICU). DESIGN: Retrospective analysis. PATIENTS AND SETTING: A group of 12,615 patients and 55,464 patient-days prospectively collected in 89 ICUs of 12 European countries. METHODS: The complexity of daily care in the ICU was classified as high (HT) or low (LT), according to six activities registered in NEMS,a daily therapeutic index for ICUs. RESULTS: Six trends of clinical course were identified: LT during the whole ICU stay (5,424 patients, mortality 1.8%); HT (3,480 patients, mortality 30.4%); HT followed by LT (2,781 patients, mortality 2.8%); LT followed by HT (197 patients, mortality 39.1%); finally, LT/HT/LT in 298 patients (mortality 10.5%); and HT/LT/HT (mortality 20.1%) in 438 patients. A group of 930 patients had the complexity of treatment increased (mortality 21.1%) and 3,711 patients received both treatments. Low-care before high-care periods had a mean duration of 2.2 +/- 3.5 days, low-care after high-care 2.7 +/- 3.1 days, and between two high-care periods 2.1 +/- 2.2 days. A group of 1,538 'surgical scheduled' patients only received LT, whereas 2,231 received HT (whether or not exclusively). Overall ICU mortality rate was low (3%) and the length of stay short, regardless of diagnosis and complexity of care received. CONCLUSIONS: The use of therapeutic indexes help to classify the daily complexity of ICU care. The classification can be used as an indicator of clinical performance and resource utilization.

Adult↗

Transplant-related toxicity and mortality: an AIEOP prospective study in 636 pediatric patients transplanted for acute leukemia.

Hematopoietic stem cell transplantation can cure high-risk acute leukemia (AL), but the occurrence of non-leukemic death is still high. The AIEOP conducted a prospective study in order to assess incidence and relationships of early toxicity and transplant-related mortality (TRM) in a pediatric population. Between 1990 and 1997 toxicities reported in eight organs (central nervous system, heart, lungs, liver, gut, kidneys, bladder, mucosa) were classified into three grades (mild, moderate, severe) and prospectively registered for 636 consecutive children who underwent autologous (216) or allogeneic (420) transplantation, either from an HLA compatible related (294), or alternative (126) donor in 13 AIEOP transplant centers. Overall, 47% of the patients are alive in CR (3-year EFS: 45.2%, s.e.: 2.1), 19% died in CR at a median of 60 days (90-day TRM: 14.3%, s.e.: 1.4), 34% relapsed. Toxicity of any organ, but mucosa and gut, was positively correlated with early death; moderate and severe toxicity to heart, lungs, liver and kidneys significantly increased early TRM, with estimated relative risks of 9.1, 5.5, 2.7 and 2.8, respectively, as compared to absent or mild toxicity. Patients with grade III-IV aGVHD experienced more than double (56% vs. 19%) TRM than patients with grade 0-II aGVHD. A higher cumulative toxicity score, estimating the impact of toxicity on TRM, was significantly associated with transplantation from an alternative donor. Quantitative assessment allowed us to describe the extent to which 'grade' of toxicity and 'type' of involved organs were related to mortality and pre-transplant characteristics and yielded a prognostic score potentially useful to compare different conditioning regimens and predict probability of early death.

Adolescent↗

B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency.

An in utero paternal CD34(+) cell transplant was performed in a T-B+NK+ SCID fetus. We report here the results of the 3-year humoral immune reconstitution study. The methods used were ApoB VNTR typing, flow cytometry, nephelometry, hemagglutination, ELISA, ELISPOT and lymphoproliferative assays. The T cells were of donor origin whereas monocytes, B and NK cells were of host origin. Peripheral B cell counts and IgM levels were normal since birth. IVIG therapy was required at 5 months of age until 2 years old. IgA levels > or =20 mg/dl were detected from month 17 post transplantation. Isohemagglutinins were present since month 8 post transplantation, the highest titers (anti-A:1/128, anti-B:1/32) were obtained at month 33 post-transplantation. After immunization with rHBsAg, circulating anti-HBsAg IgG secreting cells and a 7.8-fold increase in serum anti-HBsAg Ab were detected. We conclude that split chimerism following in utero haploidentical BMT allows complete humoral immune reconstitution in a T-B+NK+ SCID patient.

Antibody Formation↗

Improvement over time in outcome for children with acute lymphoblastic leukemia in second remission given hematopoietic stem cell transplantation from unrelated donors.

Aims of this study were to verify whether reduction in transplant-related mortality (TRM) of children with acute lymphoblastic leukemia (ALL) in second complete remission (CR) given allogeneic hematopoietic stem cell transplantation (HSCT) from unrelated volunteers has occurred over time and to investigate the role of other variables on the probabilities of relapse, TRM and event-free survival (EFS). We compared results obtained in 26 children given HSCT before January 1998 with those of 37 patients transplanted beyond that date. In all donor-recipient pairs, histocompatibility was determined by serology for HLA-A and -B antigens and by high-resolution DNA typing for DRB1 antigen. High-resolution molecular typing of HLA class I antigens was employed in 20 of the 37 children transplanted more recently. Probability of both acute and chronic GVHD was comparable in the two groups of patients. In multivariate analysis, children transplanted before January 1998, those with T-lineage ALL and those experiencing grade II-IV acute GVHD had a higher relative risk of TRM at 6 months after transplantation. Relapse rate was unfavorably affected by a time interval between diagnosis and relapse <30 months. The 2-year probability of EFS for children transplanted before and after 1 January 1998 was 27% (10-44) and 58% (42-75), respectively (P = 0.02), this difference remaining significant in multivariate analysis. EFS of unrelated donor HSCT in children with ALL in second CR has improved in the last few years, mainly due to a decreased TRM. This information is of value for counseling of patients with relapsed ALL.

Adolescent↗

Daily classification of the level of care. A method to describe clinical course of illness, use of resources and quality of intensive care assistance.

OBJECTIVE: To develop a simple and comparable clinical method able to distinguish between higher and lower complexities of care in the ICU. DESIGN: Retrospective analysis. SETTING: Database of European ICUs Study I (Euricus-I: including 12,615 patients and 55,464 patient/days), prospectively collected in 89 ICUs of 12 European countries. METHODS AND RESULTS: A panel of experts developed the classification of the complexity of care. Six (in addition to monitoring, two levels of respiratory support--R and r--two levels of circulatory support--C and c--and dialysis) out of the nine items of Nine Equivalents of Nursing Manpower use Score (NEMS), a therapeutic index, were utilised. Two levels of care (LOCs) were defined according to a more (HT) and a less complex (LT) combination of common activities of care. The two LOCs were significantly related to mortality: higher in HT and they rose with increasing cumulative number of HT days. HT accounted for 31,976 NEMS days (57.7%) while 23,488 (42.3 %) were LT. Major respiratory and cardiovascular support accounted for about 80 % of the HT days. Respiratory assistance and monitoring were responsible for an equivalent percentage of LT days. The distribution of the clinical classification of LOCs coincided with that of the managerial scores of LOCs in the literature. CONCLUSIONS: The managerial instrument described uses simple and reliable clinical data. It is able to distinguish between patients with different severity and outcome, and shows that every additional consecutive day spent in ICU as HT increases the probability of death. Moreover, (1) it suggests the possibility of describing the clinical course of illness by relating the complexity/level of medical care to the available technology and staff; (2) using relevant markers of clinical activity, it might be useful to include in quality control programmes.

Analysis of Variance↗

Stem cell transplantation from HLA-matched related donor for Fanconi's anaemia: a retrospective review of the multicentric Italian experience on behalf of AIEOP-GITMO.

Twenty-seven consecutive Italian patients with Fanconi's anaemia (FA) underwent stem cell transplantation (SCT) from an HLA-matched related donor in 10 Italian centres of the Associazione Italiana Ematologia ed Oncologia Pediatrica (AIEOP), Gruppo Italiano di Trapianto di Midollo Osseo (GITMO). Twenty-two patients (81.5%) were conditioned with low-dose (median 20 mg/kg) cyclophosphamide (Cy) and thoraco-abdominal or total body irradiation (median dose 500 cGy), five patients (18.5%) with high-dose Cy (median 120 mg/kg). Graft-vs.-host disease (GVHD) prophylaxis was carried out with cyclosporin A in 26 cases; methotrexate (MTX) was added in eight cases. One patient received MTX alone. The median follow-up was 36 months. Ninety-two percent of patients (25 out of 27) engrafted, grade II and III acute GVHD occurred in 28% and 8% of patients, respectively, with chronic GVHD in 12.5%. Conditioning-related toxicity was mild: 4% of patients had grade III mucositis, 7.4% had grade II haemorrhagic cystitis, 14.8% had grade III liver toxicity and 11.1% had grade III renal toxicity. Transplant-related mortality at 12 months was 19.2%, survival at 36 months was 81.5%, with a median Karnofsky score of 100%. No late tumours occurred after a mean follow-up of the survivors of 5 years. None of the studied variables significantly affected the survival, including conditioning regimen, acute GVHD and clinical non-haematological phenotype. Among the studied variables, only conditioning regimens containing high-dose Cy and the presence of genital abnormalities were significantly (P < 0.05) associated with an increased rate of acute GVHD. Our study demonstrates that the Italian FA patients undergoing SCT from an HLA-matched related donor have a very good outcome. These patients, when compared with others of different ethnic origin who underwent allogeneic bone marrow transplantation, showed a less severe non-haematological phenotype, raising the possibility that this milder phenotype may have, at least in part, contributed to the outcome. Our data may provide a useful tool for further studies aiming to correlate genotype with phenotype.

Adolescent↗

Rapid urease test: effect of preimmersion of biopsy forceps in formalin.

OBJECTIVE: The rapid urease test is widely used at endoscopy to determine the presence of Helicobacter pylori. The effect of immersion of the biopsy forceps in formalin before performance of a rapid urease test is uncertain. The aim of this prospective study was to determine whether previous immersion of the biopsy forceps in formalin influences rapid urease test results. METHODS: Two hundred fifty-three consecutive patients undergoing upper GI endoscopy with a clinical indication for rapid urease test had two tests with two different antral mucosa biopsies. The former was performed with a sterile biopsy forceps, the latter with a sterile biopsy forceps that was previously immersed in 10% buffered formalin. In 132 patients the CLOtest was used and in 121 patients the Jatrox-H.P. test was used. The kappa concordance test was used for comparisons. RESULTS: In the 132 patients in which the CLOtest was used, both were positive in 76 cases, both negative in 27, and discordant results were seen in 3 cases (2.27%), kappa 0.953 (range 0.901-1.000, p < 0.001). In the 121 patients in which the Jatrox test was used, both were positive in 89, both negative in 27 and there were 5 (4.13%) discordant cases, kappa 0.880 (0.793-0.984, p < 0.001). There were no differences in positivity rates at 30 minutes, 1 hour, and 3 hours between the two rapid urease test kits. CONCLUSION: Preimmersion of the biopsy forceps in formalin does not adversely affect the rapid urease test.

Biopsy↗

Salivary and lacrimal gland dysfunction (sicca syndrome) after radioiodine therapy.

UNLABELLED: Salivary gland dysfunction has been described in patients undergoing radioiodine therapy but associated lacrimal gland dysfunction (sicca syndrome) has never been reported. We conducted a prospective cohort study with follow-up for up to 3 y in a tertiary care university center to determine the prevalence of sicca syndrome in patients after high-dose radioiodine treatment. METHODS: From January 1990 to December 1995, all patients undergoing radioiodine therapy (n = 79) with a standard dose of 925 MBq to 18.5 GBq (25-500 mCi) were interviewed using a standardized questionnaire to determine subjective ocular and oral dryness and were examined for objective lacrimal and salivary gland dysfunction. RESULTS: After radioiodine treatment, 32.9% of the patients reported subjective xerostomia and 25.3% reported subjective xerophthalmia in the first year of follow-up. Xerostomia persisted to the second year of follow-up in 20.3% of cases and was still present >3 y after the last dose of radioiodine in 15.2% of cases. Xerophthalmia persisted to the second year of follow-up in 17.7% of cases and was still present in the third year of follow-up in 13.9% of cases. Severe xerostomia occurred in 4 patients. Reduced salivary and lacrimal gland function was documented in 40 (50.6%) and 14 (17.7%) of the 79 cases, respectively, in the first year of follow-up. Objective xerostomia persisted in 13.9% of cases to the second year of follow-up and was still present in all patients >3 y after the last radioiodine application. Keratoconjunctivitis sicca persisted in 11 patients (13.9%) to the second year of follow-up but was only present in 6 patients (7.6%) >3 y after the last radioiodine application. Additionally, 28/79 patients (35.4%) who had a normal salivary gland scintigraphy previously showed reduced salivary gland function in the third year of follow-up. No significant dependence on cumulative treatment was found for objective xerostomia or xerophthalmia, but doses >11.1 GBq (300 mCi) were related to stage 3 dysfunction on salivary gland scintigraphy. CONCLUSION: Salivary and lacrimal gland dysfunction (sicca syndrome) is relatively frequent after radioiodine therapy. In most cases this is a transient side effect, but in some patients it may persist for a long period or appear late.

Adult↗

Unrelated donor marrow transplantation: an update of the experience of the Italian Bone Marrow Group (GITMO).

BACKGROUND AND OBJECTIVES: Unrelated donor bone marrow transplant (UD-BMT) has become an attractive alternative source of hematopoietic cells for patients lacking a matched sibling. The aim of this paper was to report on results of the 696 UD BMTs performed in 31 Italian institutions during the first 10 years of activity of the Italian Bone Marrow Donor Registry (IBMDR). EVIDENCE AND INFORMATION SOURCES: In 1989 the Italian Bone Marrow Transplant Group (GITMO) established the IBMDR to facilitate donor search and marrow procurement for patients lacking an HLA identical sibling. By end of December 1999, 260,000 HLA-A, B typed volunteer donors had been cumulatively registered and 2,620 searches had been activated for Italian patients. At least one HLA-A, B, DRB1 matched donor was found for 54% of the patients and 696 UD BMTs were performed. In 50% of cases the donor was found in the IBMDR and in 50% in 15 other Registries. The average time from search activation to transplant was 6 months for disease other than CML. For CML it was 14 months. Actuarial 12-month transplant-related mortality (TRM) was 68% in patients grafted between 1979 and 1992 and 44% for patients grafted after 1993. Twenty-eight per cent of patients developed grade III or IV acute GvHD and 24% developed extensive chronic GvHD. The rate of disease free survival at three years was 57% for patients with 1st chronic phase CML, 37% for patients with 1st or 2nd CR ALL, 31% for AML or MDS patients 18 years of age and 54% for patients with inborn errors. PERSPECTIVES: We conclude that the IBMDR has benefited a substantial number of patients lacking a matched sibling and has facilitated the recruitment of UDs into the international donor pool. The long time required for the search is the major obstacle to the success of this programme. This suggests that early transplant and a decrease in TRM could further improve these encouraging results.

Adolescent↗