A5102915469- Blood Coagulation and Thrombosis Mechanisms
- Acute Lymphoblastic Leukemia research
- Venous Thromboembolism Diagnosis and Management
- Hemophilia Treatment and Research
- Acute Myeloid Leukemia Research
- Childhood Cancer Survivors' Quality of Life
- Cerebral Venous Sinus Thrombosis
- Cardiac Arrhythmias and Treatments
- Chronic Lymphocytic Leukemia Research
- Platelet Disorders and Treatments
- Lymphoma Diagnosis and Treatment
- Hematopoietic Stem Cell Transplantation
- Chronic Myeloid Leukemia Treatments
- Erythrocyte Function and Pathophysiology
- Bone Metabolism and Diseases
- Immunodeficiency and Autoimmune Disorders
- Congenital Heart Disease Studies
- Atrial Fibrillation Management and Outcomes
- Folate and B Vitamins Research
- Neonatal Respiratory Health Research
- Cardiovascular Issues in Pregnancy
- Central Venous Catheters and Hemodialysis
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related gene regulation
- Advanced Breast Cancer Therapies
Bambino Gesù Children's Hospital
2015-2024
Foundation University
2024
Università Cattolica del Sacro Cuore
2024
University of the Sacred Heart
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2007-2023
Azienda ospedaliera "Bianchi-Melacrino-Morelli"
2020
Boston Children's Hospital
1997-2014
Sapienza University of Rome
1985-2014
Istituto Giannina Gaslini
2013
GTx (United States)
2013
<b>Background:</b> Osteopetrosis, a genetic disease characterised by osteoclast failure, is classified into three forms: infantile malignant autosomal recessive osteopetrosis (ARO), intermediate (IRO), and dominant (ADO). <b>Methods:</b> We studied 49 patients, 21 with ARO, one IRO, 27 type II ADO (ADO II). <b>Results:</b> Most ARO patients bore known or novel (one case) ATP6i (TCIRG1) gene mutations. Six had no mutations in ClCN7, the only so far recognised implicated, suggesting...
Pentostatin was used to treat 26 patients with advanced B-cell chronic lymphocytic leukemia resistant conventional treatment. Twenty had progressive disease on previous regimens and six partial remission then relapsed 3-34 months after chemotherapy. Eleven previously been treated three different regimens. 10 two regimens, five one regimen. administered at a dosage of 4 mg/m2 weekly for 3 weeks, every other week 6 weeks once month months. Seven assessable (27%) achieved (19%) clinical...
Between May 1995 and August 2000 the Associazione Italiana di Ematologia Oncologia Pediatrica conducted ALL-95 study for risk-directed, Berlin-Frankfurt-Muenster (BFM) -oriented therapy of childhood acute lymphoblastic leukemia, aimed at exploring treatment reduction in standard-risk patients (SR) intensification during continuation intermediate-risk (IR) as randomized questions high-risk (HR). The prognostic value DNA index was explored this setting.A total 1,744 were enrolled (115, SR;...
Abstract Background Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients. Results We characterize six patients expanding the clinical phenotype of syndrome and mutational repertoire gene. detect two novel mutations, c.232C>T c.265+2T>G, as well already reported c.179delC, c.531delA c.693+1G>T cDNA analysis evidences presence aberrant transcripts, bioinformatic...
CTLA-4 is a key factor in regulating and maintaining self tolerance, providing negative signal to the T cell thus limiting immune responses. Several polymorphisms within gene have been associated with an increased risk of developing autoimmune diseases and, very recently, susceptibility human cancer. Acute lymphoblastic leukemia clonal disorder lymphoid progenitors representing most frequent malignancy childhood. Here, we show presence at significantly elevated levels circulating soluble...
Clofarabine is a promising new chemotherapeutic agent that active in the treatment of pediatric acute leukemia. Forty children (16 with myeloid leukemia [AML], 24 lymphoblastic [ALL]), aged 1-20 years (median 7.6 years) relapsed or refractory ALL AML were treated because resistance to first-line (n =5), for first =22), second =11) third relapse =2). They received clofarabine (40 mg/m(2)/day) associated etoposide (100 and cyclophosphamide (440 administered as one two induction cycles (5 days...
Essentials Dabigatran etexilate may provide a new treatment option for pediatric venous thromboembolism. Children aged 1 to < 12 years were given dabigatran in an open-label, single-arm study. The pharmacokinetic-pharmacodynamic relationship was similar that seen adult patients. There no serious adverse events, bleeding events or recurrent thromboembolism.Background current standard-of-care treatments thromboembolism (VTE) have limitations. (DE), direct thrombin inhibitor, offer alternative...
Summary Diamond–Blackfan anaemia (DBA) is a rare and heterogeneous disease characterised by hypoplastic anaemia, congenital anomalies predisposition for malignancies. The aim of this paper to report the findings from Italian DBA Registry, discuss Registry’s future challenges in tackling disease. Our 20‐year long work allowed connection 50 Association Paediatric Haematology Oncology (AIEOP) centres recruitment 283 cases. Almost all patients have been at molecular level (96%, 271/283), finding...
Background: Intracranial hemorrhage (ICH) is a highly serious event in patients with haemophilia (PWH) which leads to disability and some cases death. ICH occurs among all ages but particularly frequent newborns. Aim: The primary aim was assess the incidence mortality due an Italian population of PWH. Secondary aims were evaluate risk factors for ICH, role prophylaxis, clinical management presenting ICH. Methods: A retrospective-prospective registry established network Association...
Background Congenital heart disease (CHD) is common in children and associated with greater risk of thrombotic complications. Management these complications standard‐of‐care treatment suboptimal for children. Methods Results The effectiveness safety dabigatran were demonstrated pivotal pediatric studies the acute venous thromboembolism (VTE; NCT01895777) secondary VTE prevention (NCT02197416). We report efficacy outcomes from subgroup analyses CHD (diagnosed according to local practice)...
Central venous catheters (CVCs) represent one of the main risk factors for thrombotic events (VTEs) in children.We studied Italian Registry Pediatric Thrombosis (RITI) with regard to systemic radiologically confirmed CVC-related VTEs (CVC-VTEs) occurred during 6.5 years children aged 29 days 18 years.A total 78 CVC-VTEs were included, which 76 patients (40/76, 53% males). comprised 67 non-cardiac (86%) and 11 intracardiac (ICTEs) (14%); median age at onset was 19 17 months, respectively. The...
A possible consequence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is the development an exacerbated thrombophilic status, and cerebral venous thrombosis (CVT) a rare but complication SARS-CoV-2 reported both in adults children. The present case report describes clinical course term neonate showing extended CVT unclear origin, whose mother had developed during third trimester pregnancy. We speculate that prothrombotic status induced by maternal may have played...
Summary Data from large case series of children with cerebral thrombotic events are pivotal to improve prevention, early recognition and treatment these conditions. The Italian Registry Pediatric Thrombosis (R. I. T. I.) was established in 2007 by a multidisciplinary team, aiming for better understanding neonatal paediatric Italy providing preliminary source data the future development specific clinical trials diagnostic-therapeutic protocols. We analysed relative R. which occurred between...