Comparison of metals and essential trace elements levels between Autistic Spectrum Disorders cases and their sibs in Sicily (southern Italy)

Introduction: A role of metals exposure and essential trace element deficiency in Autistic Spectrum Disorders (ASD) etiology has been suggested by epidemiologic studies, but conclusive evidence on this topic is still lacking and controversial. We compared metals and essential trace element levels between cases both with their brothers and healthy children. Methods: The diagnosis of ASD were performed by ADOS and ADI-R according to DSM IV (Diagnostic and Statistical Manual of Mental Disorders) criteria. Hair samples were collected from cases and sibs by single cutting from the occipital region. The samples were cut to lengths of about 1.5–2 cm using clean stainless steel scissors. Approximat…

Hematopoietic Stem Cell Mobilization for Gene Therapy: The Combination of G-CSF+Plerixafor in Patients with Beta-Thalassemia Major Provides High Yields of CD34+ Cells with Primitive Signatures

Abstract Hematopoietic stem cell engineering is a promising therapy to cure b-thalassemia, in particular for patients who lack a suitable BM donor for allogeneic transplantation. Since the engrafted gene-corrected stem cells will not have any selective advantage over the unmodified ones, the effectiveness of the therapy in this setting largely depends on the infusion of high numbers of gene-modified cells and on the conditioning regimen. The quality of the infused cells is also crucial for the clinical outcome and the duration of the therapeutic effect. HSPCs mobilization, particularly when G-CSF and plerixafor are used in combination, has been proved to be the optimal approach to harvest a…

Correlation between leukocytosis and thrombosis in Philadelphia-negative chronic myeloproliferative neoplasms

The evidence that leukocytes may contribute to the pathogenesis of thrombosis in Chronic Myeloproliferative Neoplasms is increasing but not definitive. To further enforces whether an increased leukocyte count is associated with thrombosis and whether this effect can be modulated by cytoreductive therapy, we analyzed the clinical course of 187 patients with Polycythemia Vera (PV) and Essential Thrombocythemia (ET) followed at two Italian Institutions over a period of 7 years. The association was measured at diagnosis or before thrombotic events: a multivariable analysis was carried out using data at baseline and time-dependent covariates. We found that white blood cells (WBC) count above 9.5…

Carbohydrate-deficient glycoprotein syndromes: The Italian experience

EFFECTIVENESS OF G-CSF+PLERIXAFOR MOBILIZATION IN β- THALASSEMIA PATIENTS AND WHOLE GENE EXPRESSION ANALYSIS OF THE HARVESTED CD34+ CELLS

Trattamento di mobilizzazione ed aferesi di cellule staminali ematopoietiche nei pazienti affetti da beta-talassemia per la terapia genica. Studio clinico di fase 1

Three Distinct Groups of Phenotype Severity in Beta-Thalassemia

Background Thalassemia Syndromes (TS) are commonly classified as transfusion-dependent-thalassemia (TDT) or non-transfusion-dependent thalassemia (NTDT) at diagnosis on the basis of requirement for lifelong regular transfusion therapy for survival. However, data from observational studies and expert opinion suggest that these categories may reflect a wide spectrum rather than a dichotomy, and may actually be interchangeable at many parts of the disease journey. Thus, an evaluation of alternate clusters to classify TS patients remains of merit. Aims The aim of this study was to cluster TS patients on the basis of possible clinical indicators of phenotype severity (IPhS) using suitable algori…

Ileus Following Spontaneous Jejunum Intramural Hematoma: Case Report and Review of the Literature

Anticoagulant therapy may cause the onset of a spontaneous intramural hematoma of the small bowel, in the jejunum, ileum or duodenum. A 53-year-old woman on therapy with heparin for previous pulmonary embolism was admitted for abdominal pain and vomit. Computed tomography scan visualized an intramural hematoma of the jejunum causing subtotal obstruction of the intestinal lumen. The patient underwent resection of a part of the jejunum, securing intestinal continuity by a mechanical side-to-side anastomosis. The postoperative course was regular, but the initial anticoagulant therapy was reduced to prevent recurrence. In conclusion, spontaneous hematoma of small bowel can occur as a complicati…

SUCCESFULLY TREATED HEMOLITIC UREMIC SYNDROME (HUS) BY PLASMA APHERESIS AFTER KIDNEY TRANSPLANTATION

Objectives: The HUS is a rare disease; it exists a kind related to acute toxicity by Cyclosporine on the short time following kidney transplantation. Although the causes of this syndrome are still unclear, data from the literature show that patients with high levels of Reactive Antibodies (PRA test), Alport syndrome (as primitive renal disease), or which have history of HUS present a higher risk of HUS after renal transplantation. Materials and Methods: We report a case of a 58 yr old woman whose cause of uremia we did not know dependent on an episode of HUS. The patients underwent renal transplantation from deceased donor and treated with Cyclosporine, Mycophenolate Mofetil and steroids as…