A5054638346- RNA modifications and cancer
- Cancer-related gene regulation
- Hematopoietic Stem Cell Transplantation
- Epigenetics and DNA Methylation
- Hemoglobinopathies and Related Disorders
- Blood disorders and treatments
- Erythrocyte Function and Pathophysiology
- RNA and protein synthesis mechanisms
- DNA Repair Mechanisms
- Acute Myeloid Leukemia Research
- Transplantation: Methods and Outcomes
- Polyomavirus and related diseases
- Hematological disorders and diagnostics
- Blood groups and transfusion
- Parvovirus B19 Infection Studies
- Peptidase Inhibition and Analysis
- Immune Response and Inflammation
- Cytomegalovirus and herpesvirus research
- Wildlife Ecology and Conservation
- Mesenchymal stem cell research
- Immunodeficiency and Autoimmune Disorders
- Neutropenia and Cancer Infections
- Neonatal Respiratory Health Research
- Plant and animal studies
- Glycosylation and Glycoproteins Research
Zoological Society of London
1976-2023
St George's, University of London
2002-2011
St George's Hospital
1998-2010
St George's Hospital
2004-2010
Birmingham Children's Hospital
2010
Imperial College London
2008
Dana-Farber Cancer Institute
2006
University College London
1984-2004
Great Ormond Street Hospital
2004
Hammersmith Hospital
2004
Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described adults well children. In caring for these patients it often difficult to clear understanding treatment options their outcomes because lack complete information...
The purpose of this guideline is to provide a rational approach the investigation and management patients with acquired aplastic anaemia. These guidelines have been produced by both specialists in field anaemia experienced district general hospital haematologists, reviewed members British Committee for Standards Haematology (BCSH) General Task Force. Because rare disease, many statements comments first part manuscript are based on review literature expert or consensus opinion rather than...
The U.K. Diamond-Blackfan Anaemia (DBA) Registry was established with the aim of providing a representative database for studies on aetiology, pathophysiology and treatment DBA. We have analysed retrospective data from 80 cases (33 male, 47 female) born in 20-year period (1975-94), representing an annual incidence 5 per million live births. Ten children seven families had apparently familial disorder. 13% were anaemic at birth, 72.5% presented by age 3 months. 67% macrocytosis presentation....
Summary A detailed family study was undertaken of patients notified to the UK Diamond Blackfan Anaemia (DBA) Registry. RPS19 mutations were detected in 16 104 families, including two with deletions by intragenic loss heterozygosity tightly linked polymorphisms. In further cases, polymorphisms used determine parental allele origin point mutations. review clinical details and literature having identical or equivalent revealed evidence for a genotype:phenotype correlation respect prevalence...
Summary We investigated the frequencies of early populations progenitors in aplastic anaemia (AA) bone marrow, from patients with a range disease severity, compared normal. Double‐colour immunofluorescent staining for CD34 and CD33 was carried out on marrow mononuclear cells (BMMC) analysed using fluorescence activated cell sorting (FACS), AA + were reduced by 68% to In addition, three progenitor subsets (CD34 /CD33 – , ) 44–80%. Our data lend further support an stem deficiency AA.
<h3>Background</h3> Adults with sickle cell disease (SCD) and pulmonary hypertension have high mortality but death in SCD children is rare. The authors hypothesised that may be secondary to anaemia-induced cardiac output rather than vascular disease. <h3>Methods</h3> Two independent, validated techniques were used estimate resistance (PVR) 50 matched controls. Tricuspid regurgitant jet velocity (TRV) right ventricular outflow tract time integral measured using Doppler echocardiography; PVR...
In a pilot study recombinant human granulocyte colony-stimulating factor (rhG-CSF) was administered to 12 neutropenic preterm infants determine if neonatal neutropenia is secondary decreased endogenous G-CSF production. Respiratory variables were monitored because of the possible link between inflammatory cells and hyaline membrane disease. All showed increased neutrophil counts. The only side effect observed an exacerbation thrombocytopenia.