A5042469434- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Blood Coagulation and Thrombosis Mechanisms
- Hemophilia Treatment and Research
- Platelet Disorders and Treatments
- Childhood Cancer Survivors' Quality of Life
- Blood disorders and treatments
- Immunodeficiency and Autoimmune Disorders
- Blood groups and transfusion
- Hematopoietic Stem Cell Transplantation
- Hemoglobinopathies and Related Disorders
- Chronic Myeloid Leukemia Treatments
- Lymphoma Diagnosis and Treatment
- Neutropenia and Cancer Infections
- Venous Thromboembolism Diagnosis and Management
- Sepsis Diagnosis and Treatment
- Heparin-Induced Thrombocytopenia and Thrombosis
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Hematological disorders and diagnostics
- RNA modifications and cancer
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Eosinophilic Disorders and Syndromes
- Cystic Fibrosis Research Advances
- Histone Deacetylase Inhibitors Research
- Hemostasis and retained surgical items
Children's Health Ireland at Crumlin
2014-2024
University College Dublin
2012-2024
Trinity College Dublin
2010-2024
Our Lady's Hospital
2013-2023
National Children’s Research Centre
1998-2022
University College London
1990-2021
Institute of Entomology
2021
Plant (United States)
2021
The Royal Free Hospital
1990-2021
University of Veterinary Science
2021
Natural killer (NK) cells are circulating cytotoxic lymphocytes that exert potent and nonredundant antiviral activity antitumoral in the mouse; however, their function host defense humans remains unclear. Here, we investigated 6 related patients with autosomal recessive growth retardation, adrenal insufficiency, a selective NK cell deficiency characterized by lack of CD56dim subset. Using linkage analysis fine mapping, identified disease-causing gene, MCM4, which encodes component MCM2-7...
In pediatric relapsed acute myeloid leukemia (AML), optimal reinduction therapy is unknown. Studies suggest that liposomal daunorubicin (DNX; DaunoXome; Galen, Craigavon, United Kingdom) effective and less cardiotoxic, which important in this setting. These considerations led to a randomized phase III study by the International Berlin-Frankfurt-Münster Study Group.Patients with or primary refractory non-French-American-British type M3 AML who were younger than 21 years of age eligible....
Activated protein C (APC) protects against sepsis in animal models and inhibits the lipopolysacharide (LPS)-induced elaboration of proinflammatory cytokines from monocytes. The molecular mechanism responsible for this property is unknown. We assessed effect APC on LPS-induced tumour necrosis factor alpha (TNF-alpha) production activation central transcription nuclear factor-kappaB (NF-kappaB) a THP-1 cell line. Cells were preincubated with varying concentrations (200 microg/ml, 100 microg/ml...
We have analysed the haematological parameters in 21 patients with Shwachman‐Diamond syndrome (SDS) seen over a 25‐year period at our institution. Neutropenia, although present all patients, was intermittent two‐thirds, constant rest and associated impaired chemotaxis of those tested. Fetal haemoglobin (HbF) elevated 80% some stage, anaemia thrombocytopenia documented 66% 24% respectively. Bone marrow samples were taken half patients. Myelodysplastic (MDS) developed seven (33%) five whom had...
Over 13 years, we have seen 16 cases of proven invasive aspergillosis in 446 bone marrow transplant recipients, an incidence 3.6%. The infection is low patients with uncomplicated allogeneic or autologous bone-marrow transplants (< 2% and 0, respectively). Of the episodes following transplantation, 10 occurred late complications who were no longer protective isolation. In had focal pulmonary lesions (as diagnosed by computed tomographic scanning), culture bronchoalveolar lavage (BAL) fluid...
Abstract Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative disorder of early childhood characterized by mutations activating RAS signaling. Established clinical and genetic markers fail to fully recapitulate the biological heterogeneity this disease. Here we report DNA methylome analysis mutation profiling 167 JMML samples. We identify three subgroups with unique molecular characteristics. The high methylation group (HM) somatic PTPN11 poor outcome. low enriched for...
To determine whether functional cytokine gene polymorphisms influence disease susceptibility and phenotype in patients with psoriatic arthritis (PsA).DNA was obtained from 147 PsA 389 controls. Seven proinflammatory (interleukin-1beta [IL-1beta] +3953, IL-6 -174, tumor necrosis factor alpha [TNFalpha] -308, TNFbeta +252) antiinflammatory (IL-10 -1082, IL-10 -592, IL-1 receptor antagonist [intron 2, 86 bp, variable-number tandem repeat]) were detected by polymerase chain reaction restriction...
Unfractionated heparin (UFH) and low-molecular weight (LMWH) are well defined anticoagulant agents. Recent data suggest that both LMWH UFH may also have potent anti-inflammatory properties; however, their mechanism of action responsible for the effect is not yet fully elucidated. This study was designed to assess on human monocytes production inflammatory markers nuclear translocation factor (NF)-kappaB. Cultured were pretreated 15 min with or (10 microg 1 microg/million cells) before...
X-linked neutropenia (XLN, OMIM #300299) is a rare form of severe congenital neutropenia. It was originally described in three-generation family with five affected members that had an L270P mutation the GTP-ase binding domain (GBD) Wiskott-Aldrich syndrome protein (WASP) [Devriendt et al (2001) Nature Genetics, Vol. 27, 313-317]. Here, we report and describe large XLN, 10 males eight female carriers. A c.882T>C identified WAS gene, resulting I294T mutation. The infectious course variable...