A5082065589- Acute Lymphoblastic Leukemia research
- Hemoglobinopathies and Related Disorders
- Hemophilia Treatment and Research
- Acute Myeloid Leukemia Research
- Hematopoietic Stem Cell Transplantation
- Neonatal Health and Biochemistry
- DNA Repair Mechanisms
- Blood groups and transfusion
- Blood Coagulation and Thrombosis Mechanisms
- Platelet Disorders and Treatments
- Blood disorders and treatments
- Immunodeficiency and Autoimmune Disorders
- Iron Metabolism and Disorders
- Erythrocyte Function and Pathophysiology
- Chronic Myeloid Leukemia Treatments
- BRCA gene mutations in cancer
- Cytomegalovirus and herpesvirus research
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Folate and B Vitamins Research
- Neurogenetic and Muscular Disorders Research
- Bone health and treatments
- Methemoglobinemia and Tumor Lysis Syndrome
- Lysosomal Storage Disorders Research
- Blood properties and coagulation
Royal Manchester Children's Hospital
2010-2021
Manchester Academic Health Science Centre
2011-2021
University Hospitals Birmingham NHS Foundation Trust
2021
Manchester University NHS Foundation Trust
2018
Boston Children's Hospital
2002-2015
University of Manchester
2006-2013
Children’s Foundation
2012
St Mary's Hospital
2011
St. Mary's Hospital
2011
Novem (Netherlands)
2006
The guideline group was selected to be representative of UK-based medical experts. Recommendations are based on review the literature using MEDLINE and PUBMED up December 2013 under heading: 'tumour lysis syndrome'. writing produced draft guideline. Review manuscript performed by British Committee for Standards in Haematology, BCSH Haemato-oncology Task Force, Executive haemato-oncology sounding board Society Haematology (BSH). This comprises over 50 members BSH who have reviewed guidance...
Bone marrow transplantation was carried out on 38 patients with mucopolysaccharidosis type I over a period of 15 years. The donor an HLA identical relative in 10 cases, non-identical 16 and unrelated volunteer 12 cases. Ten received second transplant. One patient three transplants. Thirteen engrafted have survived five years or more. Most shown arrest slowing down psychomotor regression. However, dysostosis multiplex has progressed. Careful selection may be necessary to ensure optimum results.
Summary. With the advent of modern factor replacement therapy most important remaining obstacle to successful treatment in haemophilia A is development inhibitory antibodies against Facto VIII (FVIII). This retrospective case control study examined genetic variables and early patterns severe patients who subsequently developed clinically significant inhibitors FVIII compared with matched controls did not. Seventy eight inhibitor were identified from 13 UK centers over 25 years (1982-2007)....
Background There is increasing recognition that sport important for individuals with haemophilia; however, there remains a paucity of data the importance this in adults, many whom already have joint pathology related to childhood bleeds and treatment access. This multicentre, cross‐sectional study presents impact on health‐related quality life ( HRQ oL), physical performance clinical outcomes adults haemophilia. Results Fifty aged 35.12±14.7 mild n = 12), moderate 10), or severe 28)...
Adult survivors of childhood acute lymphoblastic leukemia (ALL) whose treatment included cranial irradiation (XRT) have reduced bone mineral density (BMD). Fifty-three ALL (aged 6–17 yr; 22 males and 31 females), who had completed their without XRT, at least 1 yr previously, 187 (5–19 86 101 females) healthy controls were examined with dual energy x-ray absorptiometry the total body L1–L4 vertebrae peripheral quantitative computer tomography distal midradial sites. The lumbar spine BMDs did...
Summary Sport is nowadays perceived as beneficial for children with haemophilia, good muscle strength supports joints and may reduce bleed frequency; by contrast psychological benefits are less known. This study introduces the impact of sport on health‐related quality life ( HRQ oL) physical performance in haemophilia. A cross‐sectional, multi‐site, boys aged 6–17 years haemophilia or B any severity, current past inhibitor, which assessed performance, sporting activity oL using age...
Bone marrow transplantation was performed in a patient with alpha-mannosidosis. To our knowledge this is the first time such treatment has been attempted. The died 18 weeks after successful grafting and specimens of tissues were obtained at necropsy. Alpha-mannosidase activity spleen liver just below normal (spleen 102 mumol/g/hour, control 113-330; 29 30-131). Splenic alpha-mannosidase indistinguishable from enzyme respect to Michaelis constant, heat stability, inhibition by cobalt ions, as...
Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define MRI appearances brain in patients FA correlation their genetic clinical features.A review 20 was performed. Pituitary size frequencies radiological findings individuals age-matched controls were determined.Abnormalities identified 18 (90%) FA, commonest being small pituitary (68%, p < 0.01...
At the commencement of UKALL XI, a national MRC trial for childhood lymphoblastic leukaemia (ALL), therapy included bolus daunorubicin (DR) on first 2 d protocol. This component treatment was subsequently withdrawn because concern about long‐term cardiotoxicity. All children both before and after this change policy had their marrow status at end week assessed by central review as part to examine clinical importance rate disease clearance. also afforded an opportunity observe effect DR gross...
Abstract Background Epstein–Barr virus (EBV) associated lymphoproliferative disease is a complication of haemopoietic stem cell transplantation (HSCT). In certain groups (unrelated and mismatched donor transplants, T‐cell depleted) the risk may be as high 25% with significant morbidity mortality. Strategies to predict impending development this disorder allow early intervention have therefore assumed importance. We routinely screen peripheral blood all recipients allogeneic HSCT detect EBV...
Abstract Fanconi anemia (FA) is an inherited disease with congenital abnormalities and extreme risk of acute myeloid leukemia (AML). Genetic events occurring during malignant transformation in FA the biology FA‐associated AML are poorly understood, but often preceded by development chromosomal aberrations involving 3q26‐29 bone marrow patients. We report here molecular cytogenetic characterization FA‐derived cell lines SB1685CB SB1690CB conventional array comparative genomic hybridization,...