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1.
Br J Haematol ; 204(2): 534-547, 2024 02.
Article in English | MEDLINE | ID: mdl-37953489

ABSTRACT

BACKGROUND: Castleman disease (CD) comprises a group of rare and heterogeneous haematological disorders, including unicentric (UCD) and multicentric (MCD) forms, the latter further subdivided into HHV8-MCD, POEMS-MCD and idiopathic-MCD (iMCD). However, according to the Castleman Disease Collaborative Network guidelines, the diagnosis of CD can only be achieved through collaboration between clinicians and pathologists. METHODS: We applied these clinical and pathological criteria and implement with clonality testing to a retrospective cohort of 48 adult and paediatric Italian patients diagnosed with reactive lymphadenitis with CD-like histological features. RESULTS: We confirmed the diagnosis of CD in 60% (29/48) of the cases, including 12 (41%) UCD and 17 (59%; five HHV8-MCD, three POEMS-MCD and nine iMCD) MCD. Of the remaining 19 cases (40%) with multiple lymphadenopathy, 5 (26%) were classified as autoimmune diseases, 1 (5%) as autoimmune lymphoproliferative disorder, 1 (5%) as IgG4-related disease, 11 (83%) as reactive lymphadenitis and 1 (5%) as nodal marginal zone lymphoma. CONCLUSIONS: Our study emphasizes the importance of the multidisciplinary approach to reactive lymphadenitis with CD-like features in order to achieve a definitive diagnosis and choose the appropriate treatment.


Subject(s)
Castleman Disease , Lymphadenitis , Lymphadenopathy , Lymphoma, B-Cell, Marginal Zone , Adult , Humans , Child , Castleman Disease/diagnosis , Retrospective Studies
2.
Am J Hematol ; 99(4): 751-754, 2024 04.
Article in English | MEDLINE | ID: mdl-38247313

ABSTRACT

Hematological toxicity following Chimeric Antigen Receptor-T therapy in a patient with a prior allogeneic stem cell transplantation was resolved by the infusion of unselected donor-derived stem cell boost. Due to the donor's lymphocytes, the patient experienced a well-controlled flare-up of acute graft versus host disease.


Subject(s)
Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Receptors, Chimeric Antigen , Humans , Transplantation, Homologous , Graft vs Host Disease/etiology , T-Lymphocytes , Hematopoietic Stem Cells
3.
Eur J Clin Invest ; 53(8): e13999, 2023 Aug.
Article in English | MEDLINE | ID: mdl-36994808

ABSTRACT

BACKGROUND: High-density lipoprotein (HDL) presents atheroprotective functions not readily reflected by plasma HDL-cholesterol levels. The aim of this study was to investigate HDL antioxidant function in patients with rheumatoid arthritis (RA). METHODS: This pilot and cross-sectional study included 50 RA patients and 50 controls matched by age, gender, cardiovascular risk factors and drug therapy. The antioxidant capacity of HDL was assessed by the total radical-trapping antioxidative potential test (TRAP-assay) and the susceptibility of low-density lipoprotein (LDL) to oxidation by the Conjugated Dienes Assay (Dmax ). A carotid ultrasound was performed in all participants to detect subclinical atherosclerosis. RESULTS: High-density lipoprotein from RA patients showed lower antioxidant capacity than those from controls [oxidized-LDL%: 35.8 (27-42) vs. 24.4 (20-32), p < .001] when analysed with the TRAP-assay. In addition, the time to achieve 50% of maximal LDL oxidation (Lag-time) was shorter in RA-patients than in matched controls [57.2 (42-71) vs. 69.5 (55-75) minutes, (p = .003)]. RA patients showed a higher atherosclerotic burden than controls. The pro-oxidant pattern in RA was irrespective of the presence of carotid atherosclerosis. On the contrary, there was a positive correlation between inflammatory parameters (erythrocyte sedimentation rate, ultrasensitive C-reactive protein and fibrinogen) and the loss of HDL-anti-oxidant capacity measured by the TRAP-assay (rho = .211, p = .035; rho = .231, p = .021 and rho = .206, p = .041, respectively). Furthermore, the glucocorticoid dose at recruitment was negatively associated with the Lag-time in RA patients (rho = -.387, p = .026). CONCLUSION: Rheumatoid arthritis patients present reduced HDL antioxidant capacity and a lower resistance of LDL particles to oxidation, mainly related to the degree of inflammation.


Subject(s)
Arthritis, Rheumatoid , Atherosclerosis , Humans , Lipoproteins, HDL , Antioxidants/therapeutic use , Cross-Sectional Studies , Arthritis, Rheumatoid/complications , Lipoproteins, LDL , Inflammation/complications , Atherosclerosis/complications
4.
Qual Life Res ; 32(4): 1199-1208, 2023 Apr.
Article in English | MEDLINE | ID: mdl-36495384

ABSTRACT

INTRODUCTION: EQ-5D-3L preference-based value sets are predominately based on hypothetical health states and derived in cross-sectional settings. Therefore, we derived an experience-based value set from a prospective observational study. METHODS: The International Costs and Utilities Related to Osteoporotic fractures Study (ICUROS) was a multinational study on fragility fractures, prospectively collecting EQ-5D-3L and Time trade-off (TTO) within two weeks after fracture (including pre-fracture recall), and at 4, 12, and 18 months thereafter. We derived an EQ-5D-3L value set by regressing the TTO values on the ten impairment levels in the EQ-5D-3L. We explored the potential for response shift and whether preferences for domains vary systematically with prior impairment in that domain. Finally, we compared the value set to 25 other EQ-5D-3L preference-based value sets. RESULTS: TTO data were available for 12,954 EQ-5D-3L health states in 4683 patients. All coefficients in the value set had the expected sign, were statistically significant, and increased monotonically with severity of impairment. We found evidence for response shift in mobility, self-care, and usual activities. The value set had good agreement with the only other experience- and preference-based value set, but poor agreement with all hypothetical value sets. CONCLUSIONS: We present an experience- and preference-based value set with high face validity. The study indicates that response shift may be important to account for when deriving value sets. Furthermore, the study suggests that perspective (experienced versus hypothetical) is more important than country setting or demographics for valuation of EQ-5D-3L health states.


Subject(s)
Health Status , Osteoporotic Fractures , Humans , Quality of Life/psychology , Cross-Sectional Studies , Surveys and Questionnaires
5.
Sensors (Basel) ; 23(6)2023 Mar 14.
Article in English | MEDLINE | ID: mdl-36991808

ABSTRACT

Here, an avant-garde study of three ancient Doric columns of the precious, ancient Romanesque church of Saints Lorenzo and Pancrazio in the historical town center of Cagliari (Italy) is presented based on the integrated application of different non-destructive testing methods. The limitations of each methodology are overcome by the synergistic application of these methods, affording an accurate, complete 3D image of the studied elements. Our procedure begins with a macroscopic in situ analysis to provide a preliminary diagnosis of the conditions of the building materials. The next step is laboratory tests, in which the porosity and other textural characteristics of the carbonate building materials are studied by optical and scanning electron microscopy. After this, a survey with a terrestrial laser scanner and close-range photogrammetry is planned and executed to produce accurate high-resolution 3D digital models of the entire church and the ancient columns inside. This was the main objective of this study. The high-resolution 3D models allowed us to identify architectural complications occurring in historical buildings. The 3D reconstruction with the above metric techniques was indispensable for planning and carrying out the 3D ultrasonic tomography, which played an important role in detecting defects, voids, and flaws within the body of the studied columns by analyzing the propagation of the ultrasonic waves. The high-resolution 3D multiparametric models allowed us to obtain an extremely accurate picture of the conservation state of the studied columns in order to locate and characterize both shallow and internal defects in the building materials. This integrated procedure can aid in the control of the spatial and temporal variations in the materials' properties and provides information on the process of deterioration in order to allow adequate restoration solutions to be developed and the structural health of the artefact to be monitored.

6.
Cytotherapy ; 24(3): 356-364, 2022 03.
Article in English | MEDLINE | ID: mdl-34865960

ABSTRACT

BACKGROUND AIMS: Bone marrow (BM) is commonly used in the pediatric and adult setting as a source of hematopoietic stem cells (HSCs). The standards of the Joint Accreditation Committee of the International Society for Cell & Gene Therapy & European Society for Blood and Marrow Transplantation (JACIE) include specific requirements regarding BM collection, processing and distribution. To run this process, each transplant team develops a series of JACIE-compliant procedures, customizing them with regard to local settings and paths. Moreover, JACIE standards require that transplant teams validate and periodically revise their procedures to keep the entire process under control. In this article, the authors describe the methodology adopted in our center to fulfill the aforementioned JACIE requirements. METHODS: The authors developed a validation plan based on the failure mode and effect analysis (FMEA) methodology. According to the FMEA approach, the authors carefully revised activities and procedures connected to BM collection, processing and distribution at our institution. The entire process was initially divided into five main phases (assessment of donor eligibility, perioperative autologous blood donation, preparation of BM collection kit, BM harvesting and BM processing and distribution), comprising 17 subphases and 22 activities. RESULTS: For each activity, one or more failure modes were identified, for a total of 28 failure modes, and a risk priority number (RPN) was then assigned to each failure mode. Although many procedures were validated, others were subjected to substantial changes according to the RPN rating. Moreover, specific indicators were identified for subsequent monitoring to contain the risk of failure of steps emerging as critical at FMEA. CONCLUSIONS: This is the first study describing use of the FMEA methodology within an HSC transplant program. Shaping the risk analysis based on local experience may be a trustworthy tool for identifying critical issues, directing strict monitoring of critical steps or even amending connected procedures. Overall, the FMEA approach enabled the authors to improve our process, checking its consistency over time.


Subject(s)
Healthcare Failure Mode and Effect Analysis , Bone Marrow , Child , Humans , Risk Assessment , Tissue Donors , Tissue and Organ Harvesting
7.
Rheumatol Int ; 42(8): 1331-1339, 2022 08.
Article in English | MEDLINE | ID: mdl-34420067

ABSTRACT

Rheumatoid arthritis (RA) was significantly associated with increased overall risk of periodontitis, both chronic, inflammatory pathologies leading to connective tissue breakdown and bone destruction. To identify clinical and/or serological variables routinely evaluated during follow-up of people with RA which are associated with the severity of their periodontal disease. An observational, cross-sectional study was carried out, which included RA patients according to ACR/EULAR 2010 criteria having chronic periodontal disease. RA clinical parameters (disease duration, erythrocyte sedimentation rate, serum C-reactive protein, disease activity (DAS28) and rheumatoid factor, presence of bone erosions and rheumatic nodules) and also corticosteroid therapy were considered. Periodontitis was evaluated according to the American Academy of Periodontology (1999) and chronic periodontitis was assessed by full mouth periapical radiographic examination, periodontal probing depth, clinical attachment level and bleeding index. A total of 110 subjects with RA and chronic periodontitis were included. The female/male relation was 5.1, and no significant differences between genres were found in rheumatic or oral variables. RA patients with longer disease duration, higher disease activity and with rheumatic nodules had significantly greater periodontitis severity. Multivariate analysis confirmed that severe periodontitis was associated with DAS283 4.1 (OR 51.4, CI 95% 9.4-281.5) and the presence of rheumatic nodules (OR 6.4, CI 95% 1.3-31.6). Disease activity and rheumatic nodules were strongly associated with severe periodontitis. Based on these findings it would be desirable to include interdisciplinary management at an early stage of RA to ensure comprehensive treatment of both pathologies.


Subject(s)
Arthritis, Rheumatoid , Chronic Periodontitis , Rheumatic Nodule , Arthritis, Rheumatoid/complications , Arthritis, Rheumatoid/drug therapy , Chronic Periodontitis/complications , Chronic Periodontitis/therapy , Cross-Sectional Studies , Female , Humans , Male , Rheumatic Nodule/complications , Rheumatoid Factor
8.
Cytotherapy ; 23(7): 635-640, 2021 07.
Article in English | MEDLINE | ID: mdl-33423867

ABSTRACT

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has deeply modified the complex logistical process underlying allogeneic hematopoietic stem cell transplant practices. AIM: In light of these changes, the authors compared data relative to allogeneic transplants carried out from 2018 at their center before (n = 167) and during the pandemic (n = 45). METHODS: The authors examined patient characteristics, donor and graft types, cell doses and main transplant outcomes. Moreover, the authors evaluated the rise of costs attributable to additional COVID-19-related procedures as well as the risk of adverse events these procedures conveyed to grafts or recipients. RESULTS: Overall, the number of transplants did not decrease during the pandemic, whereas patients at high relapse risk were prioritized. Transplants were mainly from matched unrelated donors, with a significant decrease in haploidentical related donors. Moreover, the use of bone marrow as a graft for haploidentical transplant was almost abandoned. Cryopreservation was introduced for all related and unrelated apheresis products, with a median storage time of 20 days. Notably, transplant outcomes (engraftment, acute graft-versus-host disease and non-relapse mortality) with cryopreserved products were comparable to those with fresh products. CONCLUSIONS: Considering that the emergency situation may persist for months, cryopreserving allogeneic grafts can offer a lifesaving opportunity for patients whose allogeneic transplant cannot be postponed until after the end of the COVID-19 pandemic.


Subject(s)
COVID-19/epidemiology , Hematopoietic Stem Cell Transplantation , Pandemics , COVID-19/virology , Cryopreservation , Female , Hematopoietic Stem Cell Transplantation/adverse effects , Humans , Male , Middle Aged , SARS-CoV-2/physiology , Tissue Donors , Transplantation, Homologous , Treatment Outcome
9.
Eur J Public Health ; 31(4): 688-694, 2021 10 11.
Article in English | MEDLINE | ID: mdl-33993239

ABSTRACT

BACKGROUND: The cardiovascular risk increases in a multiplicative way when patients present more risk factors simultaneously. Moreover, the General Practitioners (GPs) play a crucial role in risk factors prevention and reduction. This work aimed to evaluate a multicomponent intervention in the Primary Care Department in an Italian Local Health Unit. METHODS: A pre-post study was conducted in Northern Italy (2018). Patients were eligible if: aged between 30 and 60 years, not chronic patients, not affected by hypertension or hypercholesterolaemia. The GPs assessed body mass index, hypertension, abdominal obesity, low-density lipoprotein (LDL) values, glycaemic values, smoking and exercise habit (T0). A counselling by GPs to at-risk patients and a multicomponent health education intervention were performed. Reassessment occurred after at least 3 months (T1). Main analyses were chi-squared tests for gender differences, McNemar or marginal homogeneity tests for changes in paired data (P < 0.05 as significant). RESULTS: Participants were 5828 at T0 (54.0% females) and 4953 at T1 (53.4% females). At T0, 99.1% presented at least one risk factor. Significant changes in paired data were reported for each risk factor. The greatest improvement frequencies occurred in glycaemia values (51.0%) and hypertension (45.6%), the lowest in abdominal obesity (3.7%). Some differences were recorded between genders, e.g. females reported higher improvement frequencies in hypertension (P = 0.001) and abdominal obesity (P < 0.001), whereas males in physical activity (P = 0.011) and LDL values (P = 0.032). CONCLUSION: The results showed significant changes for each risk factor, both for men and women. GPs and multicomponent educational interventions could play a key role in reducing cardiovascular risk factors.


Subject(s)
Cardiovascular Diseases , General Practitioners , Hypertension , Adult , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/prevention & control , Exercise , Female , Humans , Hypertension/epidemiology , Hypertension/prevention & control , Italy/epidemiology , Male , Middle Aged , Risk Factors
10.
Article in English | MEDLINE | ID: mdl-34747687

ABSTRACT

This study aimed to reuse different agro-industrial by-products (poultry litter, pig manure, sewage sludge and coffee husk) for biochar production and to evaluate their Cr(VI) removal capacities in aqueous medium. The biochars showed different morphologies with porous structures. The percentages of Cr(VI) removal from solution were higher in acid medium (pH = 2), reaching values up to 87%. For all biochars, Cr(VI) removal occurs via both adsorption and reduction, being a rapid (30 min) process, which fits best to the pseudo-second order kinetic model. The biochars, especially from coffee husk, were able to reduce up to 20% of Cr(VI) to Cr(III). The maximum Cr(VI) removal capacities ranged from 10.86 mg g-1 (sewage sludge biochar) to 18.52 mg g-1 (coffee husk biochar). Therefore, the production of biochars from the agro-industrial by-products using the same experimental conditions in one single study is important to compare the Cr(VI) removal capacities from different biomasses. Thus, this study explored the corresponding raw material without the need of further treatment. Biochars showed potential for environmental applications considering Cr(VI)-polluted environments. It is hoped to provide basis to future studies using real wastewater samples.


Subject(s)
Water Pollutants, Chemical , Adsorption , Animals , Charcoal/chemistry , Chromium/analysis , Swine , Water Pollutants, Chemical/analysis
11.
Br J Haematol ; 191(2): 263-268, 2020 10.
Article in English | MEDLINE | ID: mdl-32510635

ABSTRACT

Repeated red blood cell (RBC) transfusions in preterm neonates are associated with poor outcome and increased risk for prematurity-associated diseases. RBC transfusions cause the progressive replacement of fetal haemoglobin (HbF) by adult haemoglobin (HbA). We monitored HbF levels in 25 preterm neonates until 36 weeks of post-menstrual age (PMA); patients received RBC units from allogeneic cord blood (cord-RBCs) or from adult donors (adult-RBCs), depending on whether cord-RBCs were available. Primary outcome was HbF level at PMA of 32 weeks. Twenty-three neonates survived until this age: 14 received no transfusions, two only cord-RBCs, three only adult-RBCs and four both RBC types. HbF levels in neonates transfused with cord-RBCs were significantly higher than in neonates receiving adult-RBCs (P < 0·0001) or both RBC types (P < 0·0001). Superimposable results were obtained at PMA of 36 weeks. Every adult-RBCs transfusion increased the risk for an HbF in the lowest quartile by about 10-fold, whereas this effect was not evident if combined adult- and cord-RBCs were evaluated. Overall, these data show that transfusing cord-RBCs can limit the HbF depletion caused by conventional RBC transfusions. Transfusing cord blood warrants investigation in randomised trials as a strategy to mitigate the severity of retinopathy of prematurity (NCT03764813).


Subject(s)
Anemia, Neonatal , Erythrocyte Transfusion , Fetal Blood , Fetal Hemoglobin/metabolism , Infant, Premature , Anemia, Neonatal/blood , Anemia, Neonatal/therapy , Female , Humans , Infant, Newborn , Male
12.
Cytotherapy ; 22(3): 158-165, 2020 03.
Article in English | MEDLINE | ID: mdl-32057614

ABSTRACT

We analyzed data relative to cell content in 88 consecutive patients receiving HLA haploidentical bone marrow (BM) transplants with post-transplantation cyclophosphamide (PT-CY). Median age was 54.5 (range, 17-72); diagnoses were acute leukemia (n = 46), lymphoproliferative disorders (n = 24), myelofibrosis (n = 11) and myelodysplastic syndromes (n = 5). Total nucleated cell (TNC) and CD34+, CD3+, CD4+ and CD8+ cell doses were stratified as higher than first, second and third quartile and the dose effect on various clinical outcomes was assessed. Median time to engraftment was 17 days for neutrophils and 24 days for platelets. To receive a dose of TNC ≥3.2 x 106/kg or CD34+ cells ≥2.7 x 106/kg significantly shortened the time to neutrophil and platelet engraftment and reduced the blood product requirements in the 30-day period after transplantation. Overall, TNC and CD34+ cell doses had no effect on acute graft-versus-host disease (GVHD) incidence, whereas patients receiving higher CD3+ and CD8+ cell doses seemed to have less chronic GVHD. No effect on non-relapse mortality, progression-free survival and overall survival was observed at different cell dose thresholds. These data suggest that in HLA haploidentical BM transplant with PT-CY, appropriate cell doses are relevant to the engraftment. The association between low CD3+/CD8+ cells and chronic GVHD deserves further investigation.


Subject(s)
Bone Marrow Transplantation , Cyclophosphamide/pharmacology , Transplantation, Haploidentical , Adolescent , Adult , Aged , Bone Marrow Transplantation/adverse effects , Child , Child, Preschool , Chimerism , Disease-Free Survival , Female , Graft vs Host Disease/etiology , Humans , Leukemia, Myeloid, Acute/mortality , Leukemia, Myeloid, Acute/therapy , Male , Middle Aged , Multivariate Analysis , Neoplasm Recurrence, Local/pathology , Neutrophils/transplantation , Platelet Transfusion , Proportional Hazards Models , Tissue Donors , Transplantation, Haploidentical/adverse effects , Treatment Outcome , Young Adult
13.
Clin Nephrol ; 93(1): 31-35, 2020.
Article in English | MEDLINE | ID: mdl-31448721

ABSTRACT

INTRODUCTION: Little information is available regarding the evaluation of renal volume in healthy Latin-American children of different ages. The objective of this work was to establish a predictive model of renal size (volume and length) and develop a web-based calculator. MATERIALS AND METHODS: A selective and representative sample was obtained randomly from the database of healthy children living in Resistencia city, Chaco, Argentina: a) the National Health Program for children under 6 years old; b) school children until 18 years old (primary and middle education). Renal dimensions were obtained by ultrasonography via a single experienced operator at the indicated site (schools or primary health care centers). Renal volume was calculated using Dinkel's formula. A multiple linear regression model was applied using potential predictors. The final model was implemented in a free web-based application. RESULTS: Random selection was made from the database to include 882 subjects with ages between 0.03 and 230.63 months. The data was divided into two sets (one for training and the other for model testing). The training set (423) included 212 (50%) females. Significant predictors included age, height, current weight and birth weight, and the interaction between age and present weight. Using the test dataset, both renal volume and length root mean square errors were 5.06 cm3 and 0.59 cm. CONCLUSION: The prediction model was accurate and allowed for the development a freely-available web app: Renal size prediction (https://porbm28.shinyapps.io/RenalVolume/). Once the models are validated by additional studies, the app could be a useful tool to predict renal volume and length in pediatric clinical practice.


Subject(s)
Kidney/anatomy & histology , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Infant, Newborn , Kidney/diagnostic imaging , Linear Models , Male , Organ Size , Ultrasonography
14.
Transfus Apher Sci ; 59(5): 102951, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32972859

ABSTRACT

Neonates and prematures are among the most transfused categories of patients. Adverse reactions due to transfusions, such as transfusion-transmitted infections, can affect the rest of their lives. In this systematic review, we revised the literature concerning transfusion-transmitted infection in neonates. We reported case-reports and case-series previously published and we integrated these data with our experience at local neonatal intensive care unit. Moreover, we illustrated strategies for mitigating transfusion-transmitted infections, including donor selection and testing, pathogen inactivation technologies and combined approaches, as for Cytomegalovirus infection, integrating leukoreduction and identification of seronegative donors.


Subject(s)
Blood Transfusion/methods , Transfusion Medicine/methods , Female , Humans , Infant, Newborn , Male
15.
Transfus Apher Sci ; 59(5): 102952, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32972860

ABSTRACT

The past 20 years of experience with umbilical cord blood transplantation have demonstrated that cord blood is effective in the treatment of a spectrum of diseases, including hematological malignancies, bone marrow failure, hemoglobinopathies, and inborn errors of metabolism. However, only a few number of umbilical cord blood units collected have a cell content adequate for an allogenic hematopoietic stem cell transplantation. In the meanwhile, there is an increasing interest in exploiting cord blood derivatives in different fields. In this review, we will summarize the most recent updates on clinical applications of umbilical cord blood platelet derivatives for regenerative medicine, and we will revise the literature concerning the use of umbilical cord blood for autologous or allogeneic transfusion purposes. The methodological aspect and the biological characteristics of these products also will be discussed.


Subject(s)
Blood Transfusion/methods , Fetal Blood/transplantation , Humans , Regenerative Medicine
16.
BMC Cancer ; 19(1): 50, 2019 Jan 10.
Article in English | MEDLINE | ID: mdl-30630459

ABSTRACT

BACKGROUND: Philadelphia (Ph) chromosome results from the reciprocal translocation t(9;22)(q34.1;q11.2) and is diagnostic for chronic myeloid leukemia (CML). However, this translocation is also found in acute lymphoid leukemia (ALL), as well as in rare cases of acute myeloid leukemias (AML). Most patients with CML harbor either the e13a2 or the e14a2 BCR-ABL fusion product, while a small subset of the cases expresses e1a2 or e19a2 transcripts. Moreover, several atypical BCR-ABL1 transcripts, beside the most common e1a2, e13a2 and e14a2, have been described, mainly in patients with CML. However, ALL and de novo AML may also carry BCR-ABL1 atypical transcripts which will confer a poor prognosis. CASE PRESENTATION: A 78-years old male was admitted at our hospital with clinical and laboratory features allowing to make the diagnosis of AML. No evidence of a preceding CML (splenomegaly or basophilia) was found. The karyotype on G-banded metaphases was 46,XY, t(9;22)(q34;q11). While the molecular analysis was ongoing, the patient started treatment based on hydroxyurea followed by 5-aza-2'-deoxycytidine. The molecular biology analysis revealed the simultaneous presence of the common p190 e1a2 and the rare e6a2 isoforms. Because of persistent pancytopenia and presence of blasts, according to the molecular data, he was then switched to tyrosine kinase inhibitors (TKIs) treatment. Nevertheless, after 2 months, the patient was still refractory to second line treatment dying because of a pulmonary infection. CONCLUSION: The atypical p190 e6a2 transcript seems to be associated in AML with aggressive disease. TKI therapy alone does not seem to control the disease. Prompt observations on these patients carrying rare BCR-ABL1 transcripts may help to establish optimal treatment approaches on these aggressive BCR-ABL1 phenotypes in different setting of patients.


Subject(s)
Fusion Proteins, bcr-abl/genetics , Leukemia, Myeloid, Acute/genetics , Philadelphia Chromosome , Adult , Aged , Bone Marrow/pathology , Female , Follow-Up Studies , Humans , Karyotype , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/therapy , Male , Middle Aged , Translocation, Genetic
18.
Vox Sang ; 114(7): 762-768, 2019 Oct.
Article in English | MEDLINE | ID: mdl-31402471

ABSTRACT

To avoid risk for allogeneic transfusions in healthy bone marrow (BM) donors, 1-2 preoperative autologous blood donations (PAD) are usually collected before the BM harvest. We analysed the haematological parameters in BM donors before and after the harvest, to assess the efficacy of this practice in limiting the postharvest anaemia. Overall, 102 consecutive donors underwent BM harvest preceded by one (26 cases) or two PAD (76 cases), which were infused during BM collection. We analysed the parameters related to donors, PAD timing and BM graft characteristics. PAD induced a significant decrease in Hb (from 14·6 g/dl, IQ range 13·3-15·5 to12·9 g/dl, IQ range 11·8-13·9; P < 0·0001) in all donors, with a median Hb loss at day -1 of 10·9% (IQ range 6·8-14·2). The PAD-related Hb decrease was independent of sex or number of PAD, and was inversely related to the time elapsed from first or last PAD. In comparison with values recorded at day-1, BM harvest produced an additional Hb decrease, accounting for a median Hb loss of 18·9% (IQ range 14·9-24·4). Overall, in comparison with pre-PAD values, Hb levels at day +1 were reduced of 28·9% (IQ range 23·6-32·2), independently if donors had 1 or 2 PAD reinfused. In conclusion, these data show that two PAD do not carry any advantage over one PAD. An eventual benefit of PAD can be achieved only if an adequate interval between PAD and BM harvest elapses. Prospective randomized studies could be worth to establish if any role for PAD does exist in BM donors.


Subject(s)
Anemia/etiology , Blood Donors , Blood Transfusion/methods , Bone Marrow Transplantation/methods , Tissue and Organ Harvesting/methods , Adult , Anemia/prevention & control , Bone Marrow/surgery , Bone Marrow Transplantation/adverse effects , Female , Humans , Male , Middle Aged , Tissue and Organ Harvesting/adverse effects
19.
J Inherit Metab Dis ; 42(6): 1105-1117, 2019 11.
Article in English | MEDLINE | ID: mdl-31056765

ABSTRACT

No data are available on the specific energy needs of patients affected with Urea Cycle disorders (UCD) and especially argininosuccinic aciduria (ASA). In our experience, ASA patients tend to develop central adiposity and hypertriglyceridemia when treated with apparently adequate energy intake, while the other UCD do not. The aim of this study was to evaluate anthropometric parameters, body composition, risk of metabolic syndrome (MS) and resting energy expenditure (REE), both by indirect calorimetry (IC) and predictive equations, in UCD patients. Hypertension (5/13), pathological waist circumference-to-height ratio (WtHr) (6/13), hypertriglyceridemia (12/13), reduced HDL cholesterol (12/13), and MS (5/13) were found in ASA group. In the ASA cohort, the mean and median IC-REE were 88% of what was predicted by Food and Agriculture Organization of the United Nations and Harris-Benedict equations. The "other UCD" cohort did not show hypertension, dyslipidaemia nor MS; IC-REE was similar to the REE predicted by equations. A significant difference was seen for the presence of hypertension, dyslipidaemia, pathological WtHr, MS and IC-REE/predictive equations-REE in the two cohorts. ASA patients have a risk of overfeeding if their energy requirement is not assessed individually with IC. Excessive energy intake might increase the cardiovascular risk of ASA patients. We suggest to test ASA individuals with IC every year if the patient is sufficiently collaborative. We speculate that most of the features seen in ASA patients might depend on an imbalance of Krebs cycle. Further studies are needed to verify this hypothesis.


Subject(s)
Argininosuccinic Aciduria/metabolism , Energy Metabolism/physiology , Rest/physiology , Urea Cycle Disorders, Inborn/metabolism , Adolescent , Adult , Body Composition , Calorimetry, Indirect , Child , Child, Preschool , Cohort Studies , Female , Humans , Male , Middle Aged , Young Adult
20.
Neurol Sci ; 40(2): 281, 2019 Feb.
Article in English | MEDLINE | ID: mdl-30523546

ABSTRACT

The original version of this article contains an error in Table 2. The Authors realized that they submitted the previous version of Table 2. The correct version of Table 2 is shown here.

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