Development of interactive algorithm for clinical management of acute events related to sickle cell disease in emergency department

Sickle cell disease (SCD ORPHA232; OMIM 603903) is a rare hereditary red cell disorder, which global distribution is changed in the last decade due to immigration-fluxes from endemic areas to Western-countries. One of the main clinical manifestations of SCD are the acute painful vaso-occlusive crisis, which cause frequent accesses of SCD patients to the emergency departments (EDs). This has generated the requirement of feasible tools for emergency givers. In the context of the scientific-Italian-Society for the study of Thalassemias and Hemoglobinopathies (SITE), we developed an algorithm with interactive windows to guide physicians in managing SCD patients in EDs

Development of Algorithm for Clinical Management of Sickle Cell Bone Disease: Evidence for a Role of Vertebral Fractures in Patient Follow-up

Sickle-cell disease (SCD) is a worldwide distributed hemoglobinopathy, characterized by hemolytic anemia associated with vaso-occlusive events. These result in acute and chronic multiorgan damage. Bone is early involved, leading to long-term disability, chronic pain and fractures. Here, we carried out a retrospective study to evaluate sickle bone disease (SBD) in a cohort of adults with SCD. We assessed bone density, metabolism and turnover. We also evaluated the presence of fractures and the correlation between SCD severity and skeletal manifestations. A total of 71 patients with SCD were analyzed. The mean age of population was 39 \ub1 10 years, 56% of which were females. We found osteoporosis in a range between 7% and 18% with a high incidence of vertebral fractures. LDH and AST were predictive for the severity of vertebral fractures, while bone density was not. Noteworthy, we identified -1.4 Standard Deviations T-score as the cutoff for detecting the presence of fractures in patients with SCD. Collectively our data allowed us to develop an algorithm for the management of SBD, which may be useful in daily clinical practice to early intersect and treat SBD

SARS-CoV-2 infection in beta thalassemia: Preliminary data from the Italian experience

Patients with pre\u2010existent chronic morbidities are likely to be more severely affected by SARS\u2010Cov2 infection, but no data are available regarding Thalassemic Syndromes (TS). Note, TS and hemoglobin variants represent, according to WHO, one of the most frequent causes of anemia, affecting more than 7% of the world population.1 Thalassemic Syndromes are classified in either transfusion\u2010dependent thalassemia (TDT) or non\u2010transfusion\u2010dependent thalassemia (NTDT). Infectious complications, mainly from bacteria, constitute a common cause of mortality and morbidity in TS. Stress erythropoiesis, iron overload, splenectomy and adrenal insufficiency among others may contribute to increase susceptibility to infection.2 To verify the impact of SARS\u2010CoV\u20102 infection on TS, we set\u2010up a specific survey by electronic Case Report Form (eCRF).3 Inclusion criteria require at least 15\u2009days of follow\u2010up from either the onset of symptoms or SARS\u2010CoV2 positivity. The survey was approved by Ethics Committee and eCRF was shared with the Centers of Italian Hemoglobinopathies Network. The \u201cSociet\ue0 Italiana Talassemie ed Emoglobinopatie\u201d (SITE), has estimated the presence in Italy of approximately 5000 TDT and 1900 NTDT patients.3 As of 10 April 2020, 11 cases of TS and COVID\u201019 have been collected (see supplementary information). All the reported patients are in Northern Italy, where the rate of infection is higher, reflecting the national epidemiology. The mean age is 44\u2009\ub1\u200911\u2009years (range 31\u201061\u2009years) and 55% (6/11) are females. Ten patients are TDT, and one is NTDT. All the patients have thalassemia associated comorbidities, eight are splenectomized, and one patient (#9 in the supplementary table) has pulmonary hypertension treated with sildenafil. The likely source of infection has been detected in 55% (6/11) of cases: two had contacts with COVID\u201019 positive subjects, and four had occupational exposure (three are nurses working in hospital or assisted living facilities). Three patients were asymptomatic. One patient (#3 in supplementary information) was admitted for high fever and bone marrow hypoplasia, lymphopenia, and agranulocytosis (on treatment with deferiprone) and tested positive at the third swab. Six out of 11 were hospitalized, but no one required mechanical ventilation. The patient with more severe symptoms who required more intensive ventilation support with continuous positive airway pressure (CPAP) has a history of diffuse large B\u2010cell lymphoma, treated with chemotherapy in the previous year, currently in complete remission. Of the six people admitted to the hospital, only three received supposedly specific treatment for COVID\u201019: one hydroxychloroquine (HCQ), one HCQ plus ritonavir/darunavir, and one HCQ plus anakinra. Patient #3 did not receive HCQ due to concomitant therapy with amiodarone and an increased risk of life\u2010threatening arrhythmia. The clinical course ranged from 10 to 29\u2009days. Ten patients have clinically recovered and are on a daily remote phone call follow\u2010up. Splenectomy which was present in 8/11 patients did not seem to affect the clinical course. Of note, except for the patient with myelosuppression, no increase in blood requirement was observed. When luspatercept treatment was halted in the NTDT patient, hemoglobin fell from 110 to 82 g/L, a value similar to the pre\u2010luspatercept period. Neither death nor severe SARS or signs of cytokines storm were observed in these 11 subjects, which may be surprising, taking into account the mean age and the presence of severe comorbidities. Our data, although preliminary, do not indicate increased severity of COVID\u201019 in TS. A larger number of cases needs to be collected to define the impact of this new infection and its outcome in these fragile patients

An integrated approach to the preventive conservation of cultural heritage: indoor biological environmental monitoring

In cultural-heritage-related indoor environments, biological particles represent a hazard not only to artefacts, but also to operators and visitors. Biological environmental monitoring is essential to assess any potential risk to the integrity of cultural objects and human health. We propose an integrated approach to the study of biological pollution in indoor environments, such as museums, libraries and archives, based on a methodological model for measuring microbial air and surface contamination, as well as allergens. The proposed approach relies on the analysis of 1) airborne microorganisms with active and passive methods; 2) surfaces of artefacts with non-destructive and non-invasive techniques based on nitrocellulose membrane filters; 3) fungal spores with a spore trap (Hirst type) and microscope; 4) surface and airborne allergens with immunoenzymatic assays; 5) airborne particles, with a laser particle counter; and 6) indoor microclimatic conditions, with a data logger monitoring air temperature, relative humidity, air velocity and mean radiant temperature, all combined with infrared measurements of surface temperatures. The Computational Fluid Dynamics (CFD) application for transient simulations, integrated with experimental data and applied to three dimensional models of the studied environment, is used to assess the indoor microclimate conditions. CFD plays an important role in the prediction of damage and risk, as it helps evaluate the efficiency, adequacy and reliability of ventilation systems. The CFD application can also provide critical indications for air quality control and energy saving, and can help establish maintenance criteria. Thanks to a grant by Cariparma Foundation, the proposed approach has been applied at the Palatina Library in Parma. For air microbial monitoring, a DUO-SAS 360 was used to measure the concentration of microorganisms in the air, expressed as CFU/m3 (colony forming units per cubic metre), while settle plates were used to measure the rate at which airborne microorganisms settle on surfaces (Index of Microbial Air contamination, IMA). For surface contamination, two parameters were measured using nitrocellulose membranes: the Microbial Buildup (MB, the total number of microorganisms accumulated on a surface in an unknown period of time prior to the sampling) and the Hourly Microbial Fallout (HMF, the number of microorganisms that settle on a specific surface during one hour). A spore trap sampler (VPPS 1000) was also used for direct detection at the microscope of fungal spores, both viable and nonviable, and to measure the temporal distribution of the particulate. The results obtained represent a contribution towards the definition of standardized biological environmental contamination assessment methods that will help researchers define levels and environmental classes of biological contamination. This integrated biological (air and surfaces) and microclimatic approach represents a starting point to study the environment-artefact-man system and can lead to a better understanding and prevention of biological risks both to cultural materials and to the health of operators and visitors

Musculoskeletal manifestations of chronic anemias.

none6This article provides an overview of the current use of diagnostic imaging modalities in the evaluation of a heterogeneous group of disorders causing chronic anemias by impaired blood cell production (inherited bone marrow failure syndromes of childhood, aplastic anemia and myelodysplastic syndromes, β-thalassemia) or increased blood cell destruction (sickle cell disease). During the course of these disorders, various musculoskeletal abnormalities can be encountered, including marrow hyperplasia, reversion of yellow marrow to red marrow, growth disturbances, and, occasionally, extramedullary hematopoiesis. Diagnostic imaging may help the clinician to identify specific complications related to either the disease (e.g., bone infarction and acute osteomyelitis in sickle cell disease) or transfusion (e.g., iron overload due to increased hemolysis) and iron chelation (e.g., desferrioxamine-related dysplastic bone changes and deferiprone-related degenerative arthritis) treatments. In this field, magnetic resonance imaging plays a pivotal role because of its high tissue contrast that enables early assessment of bone marrow changes before they become apparent on plain films or computed tomography or metabolic changes occur on bone scintigraphy or positron emission tomography scan. Overall, familiarity with the range of radiological appearances in chronic anemias is important to diagnose complications and establish appropriate therapy.noneC. Martinoli;L. Bacigalupo;G. L. Forni;M. Balocco;G. Garlaschi;A. TagliaficoMartinoli, Carlo; L., Bacigalupo; G. L., Forni; M., Balocco; Garlaschi, Giacomo; Tagliafico, Albert

Lack of correlation between heart, liver and pancreas MRI-R2*: Results from long term follow-up in a cohort of adult \u3b2-thalassemia major patients

No available; Lette

Daily alternating deferasirox and deferiprone therapy successfully controls iron accumulation in untreatable transfusion dependent thalassemia patients

No abstract is available for this article. This article is protected by copyright. All rights reserved

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

Deferiprone was shown to reverse iron deposition in Friedreich’s ataxia. This multi-center, unblinded, single-arm pilot study evaluated safety and efficacy of deferiprone for reducing cerebral iron accumulation in neurodegeneration with brain iron accumulation. Four patients with genetically-confirmed pantothenate kinase-associated neurodegeneration, and 2 with parkinsonism and focal dystonia, but inconclusive genetic tests, received 15 mg/kg deferiprone bid. Magnetic resonance imaging and neurological examinations were conducted at baseline, six and 12 months. Chelation treatment caused no apparent hematologic or neurological side effects. Magnetic resonance imaging revealed decreased iron accumulation in the globus pallidus of 2 patients (one with pantothenate kinase-associated neurodegeneration). Clinical rating scales and blinded video rating evaluations documented mild-to-moderate motor improvement in 3 patients (2 with pantothenate kinase-associated neurodegeneration). These results underline the safety and tolerability of deferiprone, and suggest that chelating treatment might be effective in improving neurological manifestations associated with iron accumulation