502 research outputs found

    Evaluation of the hydro-meteorological chain in Piemonte Region, north western Italy - analysis of two HYDROPTIMET test cases

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    International audienceThe HYDROPTIMET Project, Interreg IIIB EU program, is developed in the framework of the prediction and prevention of natural hazards related to severe hydro-meteorological events and aims to the optimisation of Hydro-Meteorological warning systems by the experimentation of new tools (such as numerical models) to be used operationally for risk assessment. The object of the research are the Mesoscale weather phenomena and the response of watersheds with size ranging from 102 to 103 km2. Non-hydrostatic meteorological models are used to catch such phenomena at a regional level focusing on the Quantitative Precipitation Forecast (QPF). Furthermore hydrological Quantitative Discharge Forecast (QDF) are performed by the simulation of run-off generation and flood propagation in the main rivers of the interested territory. In this way observed data and QPF are used, in a real-time configuration, for one-way forcing of the hydrological model that works operationally connected to the Piemonte Region Alert System. The main hydro-meteorological events that interested Piemonte Region in the last years are studied, these are the HYDROPTIMET selected test cases of 14-18 November 2002 and 23-26 November 2002. The results obtained in terms of QPF and QDF offer a sound basis to evaluate the sensitivity of the whole hydro-meteorological chain to the uncertainties in the numerical simulations. Different configurations of non-hydrostatic meteorological models are also analysed

    The tailor-made treatment in a particular case of pulmonary hypertension in thalassaemia intermedia: A case report

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    Background: Pulmonary hypertension (PH) is a haemodynamic condition, secondary to different causes. Thalassaemia may lead to PH of different origin and needs a comprehensive analysis to be correctly characterized and possibly treated. Case summary: We present a case study of a patient with a non-transfusion-dependent thalassaemia and a previous diagnosis of group 5 PH. A complete diagnostic assessment led to a specific diagnosis of chronic thromboembolic PH. Thus, we were able to start a specific therapy with riociguat that provided an improvement in terms of haemodynamic, imaging, and functional status. Discussion: A correct characterization and treatment of PH are essential in order to change the patient's prognosis. Chronic thromboembolic PH is a treatable cause of PH in thalassemic patients and should be investigated

    Selecting b-thalassemia patients for gene therapy: a decision-making algorithm

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    The Societ\ue0 Italiana Talassemie ed Emoglobinopatie (Italian Society of Thalassemias and Hemoglobinopathies, SITE) has developed this document based on multidisciplinary discussions of a panel of experts to provide guidance on the identification and selection of patients with transfusion-dependent beta-thalassemia (\u3b2-TDT) who could benefit from gene therapy. Currently, allogeneic transplantation of hematopoietic stem cells is the only curative and most widely used therapy treatment for \u3b2-TDT. However, recent trials of gene therapy have reported very promising results in terms of overall survival and thalassemia-free survival and are opening a new landscape of treatment. This algorithm for the selection of patients suitable for gene therapy and the supporting notes were formulated by consensus review after an evaluation of currently available scientific evidence using validated criteria. The evidence was interpreted with caution because clinical trial experience of gene therapy is currently limited, a conventional treatment is available for patients with \u3b2-TDT and the availability of gene therapy will, at least initially, be quite limited. Clinical experience of allogeneic transplantation in \u3b2-TDT, which began in 1981, immediately showed the importance of patient risk stratification in order to achieve the best results (see the Pesaro experience and their classification of patients according to risk). Published data in the literature and the recent analysis of clinical evidence by the European Registry of Hemoglobinopathies of a large number of patients (2011 and 2018 analyses) confirm that young patient age (<14 years) and the availability of a human leukocyte antigen (HLA)-identical family donor are factors that offer the best outcome from allogeneic transplantation. Current knowledge of, and experience with, non-conventional treatments, such as allogeneic transplantation and gene therapy, are discussed in order to identify the best available treatment and indication for these patients according to their characteristics. At this point in time, when we can see the emergence of \u2018the age of gene therapy\u2019, it is essential to establish the optimal patient setting in which gene therapy can be applied, or better, to define the setting that represents the most suitable indication for gene therapy, identify the patients who should have clinical priority for access to the procedure, and set out requirements and recommendations for the identification of qualified treatment centers for gene therapy. When considering changes to the treatment of patients with \u3b2-TDT, including gene therapy, it is essential that a detailed consultation is held with the patient and their caregiver/family to discuss all possible risks and potential benefits from the treatment. Discussion of this aspect of care is outside of the scope of this document but remains an important element of patient care

    Beta-Thalassaemia Intermedia: Evaluation of Endocrine and Bone Complications

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    Objective. Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications in -TI adult patients. Methods. We studied retrospectively 70 -TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) from 2 * , transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry. Results. Thirty-seven (53%) males and 33 (47%) females were studied, with mean age 41±12 years, mean haemoglobin 9.2 ± 1.5 g/dL, median ferritin 537 (range 14-4893), and mean LIC 7.6 ± 6.4 mg Fe/g dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/5
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