A5044988484- Acute Lymphoblastic Leukemia research
- Hemophilia Treatment and Research
- Acute Myeloid Leukemia Research
- Blood Coagulation and Thrombosis Mechanisms
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Immunodeficiency and Autoimmune Disorders
- Platelet Disorders and Treatments
- RNA modifications and cancer
- Venous Thromboembolism Diagnosis and Management
- Hemostasis and retained surgical items
- Childhood Cancer Survivors' Quality of Life
- Vascular anomalies and interventions
- Gestational Trophoblastic Disease Studies
- Chronic Myeloid Leukemia Treatments
- Porphyrin Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- RNA Research and Splicing
- Advanced biosensing and bioanalysis techniques
- Metabolism and Genetic Disorders
- Abdominal vascular conditions and treatments
- Pregnancy and preeclampsia studies
- Genetic Syndromes and Imprinting
- Systemic Lupus Erythematosus Research
- Chronic Lymphocytic Leukemia Research
Bristol Royal Hospital for Children
2010-2021
University Hospitals Bristol NHS Foundation Trust
2014-2021
Imperial College London
2010
The 40-fold increase in childhood megakaryocyte-erythroid and B-cell leukemia Down syndrome implicates trisomy 21 (T21) perturbing fetal hematopoiesis. Here, we show that compared with primary disomic controls, T21 liver (FL) hematopoietic stem cells (HSC) progenitors are markedly increased, whereas granulocyte-macrophage reduced. Commensurately, HSC higher clonogenicity, increased megakaryocyte, megakaryocyte-erythroid, replatable blast colonies. Biased megakaryocyte-erythroid–primed gene...
The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. also features annotations, reviews, short reports, images haematology Letters to the Editor.
Introduction Intracranial haemorrhage in children with inherited bleeding disorders is a potentially life‐threatening complication and presents significant therapeutic challenge. Aim To define the characteristics, management outcomes of intracranial presenting UK ≤16 years age from 2003 to 2015. Method Retrospective analysis treated at haemophilia centres. Results Of 66 (ICH), 82% had A or B, 3% VWD 15% rare IBD . The was severe phenotype 91%. rates ICH were 6.4 4.2 per 1000 patient for...
In good risk patients (historic inhibitor peak < 200BU), the International Immune Tolerance Study demonstrated equal efficacy to induce tolerance between high (200iu/kg/day) and low dose (50iu/kg ×3 times/week) immune induction (ITI) regimens. However, trial stopped early on account of excessive bleed rate in ITI arm.United Kingdom Haemophilia Centre Doctors' Organization (UKHCDO) Paediatric Inhibitor working parties considered available data alongside bi-phenotypic antibody emicizumab...
Risk assessment for venous thromboembolism (VTE) and thromboprophylaxis in those with risk factors is established adult practice. Evidence to support efficacy safety of this approach adolescents lacking. We aimed describe thrombotic determine the proportion potentially preventable events a retrospective cohort study VTE.Data were collected between 2008 2014 from eight tertiary UK centres. Qualifying radiologically confirmed VTE subjects aged 12-17 years. Central line-related upper system...
Summary Homozygous severe factor V ( FV ) deficiency has a prevalence of around one per million. Even in patients with levels <0.01 IU mL −1 there appears to be variation bleeding phenotype that is subgroup affected individuals who present later childhood and have relatively mild phenotype, but are children as neonates intracerebral events much more phenotype. The only available current replacement the form fresh frozen plasma FFP or solvent detergent . We here our experience surgical...
We report a previously well 9-year-old boy who presented with an acutely swollen left arm after horse riding. Left subclavian vein thrombosis was demonstrated by MR venography but there no evidence of underlying anatomical abnormality. The child successfully treated catheter directed thrombolysis and anticoagulation intravenous unfractionated heparin warfarin. have identified 75 published case reports effort-induced upper extremity deep (UEDVT) surveyed patient characteristics precipitating...
<h3></h3> We present the case of a 13 year old girl who presented with spontaneous, recurrent and painful soft tissue swellings affecting her extremities. On several occasions degree swelling pain was enough to consider compartment syndrome. To date she has required ten fasciotomies. two also had haematuria. Baseline biochemical, haematological radiological investigations were normal no cause for symptoms identified. Skin biopsy showed evidence vasculitis. She underwent further extensive...
We present the case of a 12-month-old boy presenting in February 2014 with widespread soft tissue nodules that had progressed over 5 months. They were not painful or itchy and there no associated symptoms. He continued to gain weight remained systemically well. subcutaneous firm his scalp, forehead, trunk, back, abdominal wall scrotum. non-tender overlying skin changes. was pale but systemic examination otherwise normal. There significant lymphadenopathy hepatosplenomegaly. Blood tests...
An 11-year-old girl presented to the hospital with vomiting, left upper-quadrant pain and blood in stool. ultrasound scan showed no flow coeliac axis or splenic artery. A contrast-enhanced CT then demonstrated beyond origin, a large clot distal superior mesenteric artery (SMA), infarct bilateral renal infarcts. Investigations revealed positive lupus anticoagulant she was given presumptive diagnosis of catastrophic antiphospholipid syndrome (CAPS). She anticoagulated started on combination...
A 6 month old girl was referred to the paediatric out-patient clinic by her GP as she noted have frontal skull bossing and an increase in head circumference from 50<sup>th</sup> 98<sup>th</sup> centile. She developing normally neurologically intact; however did appear very pale. x-ray performed which showed abnormally thickened bones over occipital regions with apparent 'hair on end' appearance. This has previously been seen haemolytic anaemias, but not reported sideroblastic anaemia. full...