A5001066877- Platelet Disorders and Treatments
- Blood groups and transfusion
- Immunodeficiency and Autoimmune Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Renal Diseases and Glomerulopathies
- Central Venous Catheters and Hemodialysis
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Hematopoietic Stem Cell Transplantation
- Cystic Fibrosis Research Advances
- Genomics and Rare Diseases
- Ethics and Legal Issues in Pediatric Healthcare
- Venous Thromboembolism Diagnosis and Management
- Blood properties and coagulation
- Metabolism and Genetic Disorders
- Chronic Lymphocytic Leukemia Research
- Erythrocyte Function and Pathophysiology
- Immune Cell Function and Interaction
- Viral-associated cancers and disorders
- Histiocytic Disorders and Treatments
- Inflammasome and immune disorders
- Neutropenia and Cancer Infections
- Vascular Tumors and Angiosarcomas
- Drug Transport and Resistance Mechanisms
- Liver Disease Diagnosis and Treatment
Great Ormond Street Hospital for Children NHS Foundation Trust
2016-2022
University College London
2011-2022
Great Ormond Street Hospital
2011-2022
National Health Service
2019
Newcastle upon Tyne Hospitals NHS Foundation Trust
2016
Royal Hospital for Children
2016
Royal Manchester Children's Hospital
2016
Royal Victoria Infirmary
2016
University College Hospital
2009
ABSTRACT Nuclear‐encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects aminoacyl‐tRNA synthetases, factors required for initiation, elongation termination protein synthesis as well ribosome recycling. We report on a new case myopathy, lactic acidosis sideroblastic anemia (MLASA) syndrome caused by defective tyrosyl aminoacylation. The patient presented at 1 year with initially attributed to iron deficiency. Bone marrow...
Summary Clofarabine is a second‐generation purine nucleoside analogue, which has shown promising activity in relapsed and refractory paediatric acute lymphoblastic leukaemia (ALL). This report summarizes the early United Kingdom experience of clofarabine for treatment ALL 23 patients, outside context clinical trial. Our results demonstrated that clofarabine‐based chemotherapy regimes were effective well‐tolerated this heavily pre‐treated group, with an overall response rate 67% when used...
Summary The safety and efficacy of rituximab with CODOX‐M/IVAC (cyclophosphamide, doxorubicin, vincristine, methotrexate/ifosfamide, etoposide, high dose cytarabine) was retrospectively analysed in 23 patients non‐human immunodeficiency virus‐related B‐cell non‐Hodgkin lymphoma proliferation index >95% [14 classical Burkitt (BL), five unclassifiable, features intermediate between diffuse large B cell (DLBCL) BL, four DLBCL]. Six (26%) low‐risk (LR) received three cycles CODOX‐M 17 (74%)...
The guideline was compiled according to the British Society for Haematology (BSH) process at www.b-s-h.org.uk/guidelines. scope of agreed by Writing Group, which consisted UK-based consultant paediatric haematologists with a special interest in haemostasis and thrombosis or haematological malignancy. A literature search performed covering relevant articles published up until July 2016 (details Appendix S1) Group reviewed drafted manuscript, subsequently revised, consensus, members...
Wilms tumour (WT) is the commonest primary malignant renal of childhood. Acquired von Willebrand syndrome (avWS) a well-described paraneoplastic phenomenon, but it uncommon and may not be detected until clinically significant bleeding encountered during interventional procedures. Previous studies on small cohorts patients have determined an incidence between 4 8%. We performed retrospective study cases WT presenting over 11.5-year period to paediatric haematology/oncology unit in tertiary...
Juvenile xanthogranulomatosis (JXG) is a rare benign condition, which usually presents with characteristic skin lesions and can be diagnosed clinically. However, systemic JXG may involve wide range of extracutaneous sites pose diagnostic dilemma for the clinician, radiologist, pathologist. In particular it simulate malignancy. Here, we report case within abdominal wall musculature lungs, imitated sarcoma pulmonary metastases on computerized tomography. To best our knowledge, this first such...
Summary Childhood ITP is often considered to be a relatively mild haematological disorder, with only minority of patients requiring treatment for troublesome bleeding. Over recent years, wider effects the condition have been identified in some adults, particularly relating fatigue and cognitive impairment. In this study, we sought investigate such group children further our understanding their psychological profile. Children attending routine haematology outpatient clinics parents were asked...
The United Kingdom (UK) immune thrombocytopenia (ITP) forum is a working group of health professionals with an interest in the care patients ITP (http://itpsupport.org.uk/itpforum/about.htm). We were aware differences use thrombopoietin receptor agonists (TPO-RAs) throughout UK and 12-question survey was designed to assess several aspects prescribing practice. In April 2015, this circulated all 16 paediatric 20 adult haematology consultants providing clinical centre service. All responses...
This Good Practice Paper was compiled according to the British Society for Haematology (BSH) process available at: https://b-s-h.org.uk/media/16732/bsh-guidance-development-process-dec-5-18.pdf. The BSH produces Papers recommend good practice in areas where there is a limited evidence base but which degree of consensus or uniformity likely be beneficial patient care. Due paucity high-quality evidence, Grading Recommendations Assessment, Development and Evaluation (GRADE) nomenclature...
There is a lack of evidence-based guidance for the prevention and management thrombosis in children young people treated acute lymphoblastic leukemia. To determine current UK practice, survey was sent to 28 centers participating Medical Research Council UKALL 2011 trial. Marked variation practice noted. In total, 43% defer central venous access device insertion until end induction treatment low-risk disease. Central devices are removed at intensive blocks 38% 42%. Duration anticoagulation...
Abstract Healthy, term neonates rarely encounter problems with bleeding, despite physiological differences in their levels of clotting factors, reflected prolongation the prothrombin time (PT), activated partial thromboplastin (APTT) and thrombin (TT). Their risk however, is significantly increased by presence a severe congenital bleeding disorder. Establishing such diagnosis can present particular challenge, given rarity these conditions difficulty performing interpreting laboratory assays...