A5017205760- DNA Repair Mechanisms
- Hematopoietic Stem Cell Transplantation
- Platelet Disorders and Treatments
- Blood disorders and treatments
- Acute Myeloid Leukemia Research
- Immune Cell Function and Interaction
- Hemophilia Treatment and Research
- Blood Coagulation and Thrombosis Mechanisms
- Erythrocyte Function and Pathophysiology
- Acute Lymphoblastic Leukemia research
- Blood groups and transfusion
- Immunodeficiency and Autoimmune Disorders
- Microtubule and mitosis dynamics
- Protist diversity and phylogeny
- Mesenchymal stem cell research
- Neonatal Health and Biochemistry
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Immune Response and Inflammation
- T-cell and B-cell Immunology
- Polyomavirus and related diseases
- RNA modifications and cancer
- Cell death mechanisms and regulation
- Venous Thromboembolism Diagnosis and Management
- Hemostasis and retained surgical items
- Neutropenia and Cancer Infections
Istituto Giannina Gaslini
2011-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2024
Haukeland University Hospital
2021
University of Bergen
2021
Nordic Institute of Dental Materials
2021
NORCE Norwegian Research Centre
2021
Boston Children's Hospital
2005-2014
Hôpital Necker-Enfants Malades
2013
Children's Hospital
2004-2013
University of Naples Federico II
2013
Summary Immunosuppressive therapy (IST) with antithymocyte globulin and cyclosporin A (CyA) is the standard treatment for children acquired aplastic anaemia (AAA) lacking a matched donor. Survival rates of more than 80% at 5 years are achieved, but response drug‐dependent in 15–25% cases. This study, 42 consecutive AAA treated IST, assessed incidence CyA‐dependence, CyA granulocyte colony‐stimulating factor (G‐CSF) tapering schedules impact drug accumulation on progression to...
The management of refractory autoimmune cytopenias in childhood is challenging due to the lack established evidence on escalating treatments. long-term efficacy immunosuppressive drugs was evaluated children with referred Haematology Unit Gaslini Children's Hospital between 2001 and 2014. Patients were grouped into three categories: lymphoproliferative syndrome (ALPS), ALPS-related (at least one absolute/primary additional criterion for ALPS) primary cytopenia (PAC, no other immunological...
Twelve paediatric patients with aplastic anaemia and two groups of normal control subjects underwent flow cytometric analysis for intracytoplasmic expression γ interferon (γ‐IFN) tumour necrosis factor α (TNF‐α) in bone marrow peripheral blood CD4+ CD8+ cells. The same cytokines were tested, by immunoassay, culture supernatants from unstimulated mononuclear cells (MNCs). Marrow expressing γ‐IFN TNF‐α significantly increased the comparison ( P < 0·05 to 0·0001 different cellular subsets)....
Diamond-Blackfan anemia is an autosomal dominant disease due to mutations in nine ribosomal protein encoding genes. Because most are loss of function and detected by direct sequencing coding exons, we reasoned that part the approximately 50% mutation negative patients may have carried a copy number variant As proof concept, designed multiplex ligation-dependent probe amplification assay targeted screen six genes frequently mutated patients: RPS17, RPS19, RPS26, RPL5, RPL11, RPL35A. Using...
Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the identified 100 unrelated probands enrolled into National Network Italian Association Pediatric Hematoly Oncology. approximately half these cases, mutational...
In this study, the immunological status of 61 patients with Fanconi anemia (FA) advanced marrow failure before hematopoietic stem cell transplantation was analyzed by assessing phenotype peripheral blood lymphocytes, serum immunoglobulin (Ig) levels, and inflammatory cytokines. FA, total absolute lymphocytes (P < 0.0001), B cells NK = 0.003) were reduced when compared normal controls. T (CD3), that is, cytotoxic cells, naïve regulatory showed a relative increase Serum levels IgG 0.0001) IgM...
A multicentre study evaluating the presence of glycosil phosphatidyl-inositol (GPI)-negative populations was performed in 85 children with acquired aplastic anemia (AA). GPI-negative population observed 41% patients at diagnosis, 48% during immune-suppressive therapy (IST), and 45% off-therapy. No association found between a diagnosis response to IST. In addition, rate IST did not differ who were GPI-positive later developed 11 remained GPI-positive. Two >10%, laboratory signs hemolysis...
We analyzed 97 Fanconi anemia patients from a clinic/biological database for genotype, somatic, and hematologic phenotype, adverse hematological events, solid tumors, treatment. Seventy‐two belonged to complementation group A. Eighty percent of presented with mild/moderate somatic phenotype most cytopenia. No correlation was seen between somatic/hematologic number missense mutations FANCA alleles. Over follow‐up, 33% improved or maintained cytopenia normal blood count, whereas remaining...
Summary Interferon‐ γ (IFN‐ ) mediates the final damage of stem cell compartment in Aplastic Anaemia (AA). Normal subjects homozygous for 12 (CA) repeats polymorphism variable number dinucleotide repeat (VNDR) position 1349 IFN‐ gene ( IFNG were shown to overproduce vitro . We studied distribution VNDR 67 Caucasian AA patients and normal controls. Genotype (CA)12‐12, (homozygosis allele 2) single significantly more frequent P = 0·005 0·004 respectively) versus The was equally distributed...
An 11-month-old girl with B-cell leukemia/lymphoma developed profound lethargy due to severe lactic acidosis during chemotherapy and total parenteral nutrition (TPN). Initial treatment NaHCO3 was ineffective. Treatment a vitamin cocktail (OH-cobalamin, pyridoxine, thiamine, riboflavine, biotin, carnitine) at pharmacologic doses rapidly improved the child's clinical laboratory status. Lactic caused by an impairment of pyruvate dehydrogenase complex, which lack its necessary cofactor thiamine...
Cytokine expression assessed by flow cytometry in 53 acquired aplastic anemia patients before and after combined immunosuppression (EBMT WPSAA protocols) showed that CD3(+) marrow cells containing TNF-alpha, IFN-gamma IL4 were similar subjects with disease at onset (DO) responsive to treatment who had more CD3(+)/TNF-alpha(+) CD 3(+)/IFN-gamma(+) than normal controls. In vitro block of TNF-alpha and/or significantly increased BFU-e over baseline 28 patients. only incremented colonies...
We report a case series of four infants with severe autoimmune haemolytic anaemia (AIHA) who responded to treatment rituximab and cyclosporine after having failed first line therapy high-dose steroid (prednisolone 4-8 mg/kg/d). Rituximab was started at 11-90 d from onset due continued haemolysis; three also received A. Three reached complete response, defined as normal haemoglobin, reticulocytes negative indices haemolysis, 7-21 months diagnosis. In long-term follow-up two remained...
Abstract About 10–15% of patients with acquired aplastic anemia (AAA) have resistant/recurrent disease not eligible for standard treatment like hematopoietic stem cell transplantation and/or combined immunosuppression. We report a 17‐year‐old male an 11 years history AAA who, after two courses immunosuppression, was red transfusion‐dependent, severely thrombocytopenic, refractory to platelet transfusion, had iron overload and post‐transfusion HCV infection. This patient achieved transfusion...
Fanconi Anemia (FA) is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure cancer proneness, however there wide clinical heterogeneity. The symptom most frequently early associated morbidity mortality pancytopenia in first decade life although acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) can appear before...