Royal Hospital for Children

Bristol, United Kingdom

Royal Hospital for Children

Bristol, United Kingdom
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Orbach D.,University Pierre and Marie Curie | McDowell H.,Alder Hey NHS Foundation Trust | Rey A.,Institute Gustave Roussy | Bouvet N.,Institute Gustave Roussy | And 2 more authors.
Pediatric Blood and Cancer | Year: 2011

Background: The aim of this analysis was to identify if the modified indications of radiotherapy (RT) or radical surgery compromised survival in pediatric synovial sarcoma (SS). Procedure: Children with non-metastatic SS, prospectively enrolled in three trials, were analyzed. After primary surgery or biopsy, they received chemotherapy. RT was planned after chemotherapy in patients who had not achieved a complete response (CR). The considered outcome was 5-year overall survival (OS) and event-free survival (EFS). Results: Eighty-eight patients were identified. Primary tumors were mainly located in limbs (66%). The first-line therapy for 65 patients was primary resection. Of the 49 patients who had gross tumor resection, 43 received adjuvant chemotherapy, and 8 had RT. All of the 39 patients with macroscopic residual disease received chemotherapy, then only surgery (n=12)±RT (n=22). The 5-year EFS and OS rates were 68% and 85%, respectively. The TNM stage was a prognostic factor for relapse, whereas primary site of the tumor and TNM stage were prognostic factors for death. Conclusions: Only 32% of survivors received RT. OS was similar to published data. Omission of RT may be considered in younger children, to limit the potential sequelae in patients with tumors less than 5cm in size initially submitted to marginal resection. This strategy may also be considered in initially unresected cases, when the tumor is resected at delayed surgery with microscopically free margins, and in patients in complete remission after primary chemotherapy. © 2011 Wiley Periodicals, Inc.

Ostergaard P.,St George's, University of London | Simpson M.A.,King's College London | Connell F.C.,Guys Hospital | Steward C.G.,Royal Hospital for Children | And 16 more authors.
Nature Genetics | Year: 2011

We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome. © 2011 Nature America, Inc. All rights reserved.

De Bie C.I.,Sophia Childrens Hospital | Buderus S.,St Marien Hospital | Sandhu B.K.,Royal Hospital for Children | De Ridder L.,Sophia Childrens Hospital | And 4 more authors.
Journal of Pediatric Gastroenterology and Nutrition | Year: 2012

Objective: In 2005, the Inflammatory Bowel Disease (IBD) Working Group of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition published consensus guidelines on the diagnostic workup of paediatric IBD, the Porto criteria. According to these guidelines, children suspected of having IBD should undergo an oesophagogastroduodenoscopy (OGD), ileocolonoscopy, and (except in cases of definitive ulcerative colitis) adequate imaging of the small bowel. To audit and evaluate the diagnostic workup of paediatric patients with IBD in Europe, the Working Group created EUROKIDS, a prospective, Web-based registry of newly diagnosed paediatric patients with IBD. Methods: Patients with IBD (ages 0-18 years) were registered in 44 centres in 18 countries. Data on diagnostic workup were analysed according to the year of diagnosis, type of IBD, and centre size. Diagnostic yield of OGD and ileal intubation were evaluated. Results: Between 2004 and 2009, 2087 newly diagnosed patients were correctly registered. Both OGD and ileocolonoscopy had been performed in 64% of all of the patients and increased significantly from year 1 (52 %) to 5 (71%, P<0.001). Small-bowel follow-through use decreased during the years (year 1 n=213, year 5 n=108; P<0.001), whereas magnetic resonance imaging use increased (year 1 n=25, year 5 n=171; P<0.001). Patients diagnosed as having Crohn disease (CD, 59%) and ulcerative colitis (58%) were more likely to have had a complete diagnostic workup than patients diagnosed as having IBD unclassified (45%). In CD, the diagnostic yield of OGD was 7.5% and the yield of ileal intubation was 13%. Conclusions: The quality of diagnostic workup in paediatric patients with IBD increased steadily between 2004 and 2009. Small-bowel imaging by magnetic resonance imaging superseded the use of small-bowel follow-through. OGD and ileal intubation contributed to a definitive diagnosis of CD. .

Stoddart M.T.,Imperial College London | Connor P.,Childrens Hospital for Wales | Germeshausen M.,Hannover Medical School | Ballmaier M.,Hannover Medical School | Steward C.G.,Royal Hospital for Children
Pediatric Blood and Cancer | Year: 2013

Congenital amegakaryocytic thrombocytopenia (CAMT) is characterised by neonatal thrombocytopenia, with reduced or absent bone marrow megakaryocytes, leading eventually to pancytopenia. The mean age for progression to bone marrow failure is four years, with the earliest reported being six months. We describe a CAMT patient with compound heterozygous mutations of the causative MPL gene (one being a previously unreported splice site mutation in intron 11) who developed pancytopenia within the first month of life. This report emphasises the importance of considering CAMT in the differential diagnosis of congenital aplastic anaemia or idiopathic aplastic anaemia in babies. © 2013 Wiley Periodicals, Inc.

Steward C.G.,University of Bristol | Steward C.G.,Royal Hospital for Children
Pediatric Clinics of North America | Year: 2010

Osteopetrosis is the generic name for a group of diseases caused by deficient formation or function of osteoclasts, inherited in either autosomal recessive or dominant fashion. Osteopetrosis varies in severity from a disease that may kill infants to an incidental radiological finding in adults. It is increasingly clear that prognosis is governed by which gene is affected, making detailed elucidation of the cause of the disease a critical component of optimal care, including the decision on whether hematopoietic stem cell transplantation is appropriate. This article reviews the characteristics and management of osteopetrosis. © 2010 Elsevier Inc.

Fell J.M.,Chelsea and Westminster Hospital NHS Foundation Trust | Muhammed R.,Birmingham Childrens Hospital NHS Foundation Trust | Spray C.,Bristol Royal Hospital for Children | Crook K.,Northwick Park Hospital | Russell R.K.,Royal Hospital for Children
Archives of Disease in Childhood | Year: 2016

Ulcerative colitis (UC) in children is increasing. The range of treatments available has also increased too but around 1 in 4 children still require surgery to control their disease. An up-to-date understanding of treatments is essential for all clinicians involved in the care of UC patients to ensure appropriate and timely treatment while minimising the risk of complications and side effects.

Objectives: To estimate the prevalence of ANSD in the NICU population in Avon. To characterise initial test results and eventual outcomes in terms of behavioural responses and treatment received for children with ANSD. Methods: Data was collected from the Newborn Hearing Screening Programme database to determine the number of babies with bilateral sensorineural hearing loss. eSP and audiological paper records were reviewed to determine the number of babies diagnosed with ANSD, their behavioural hearing thresholds and how the babies were managed. Results: The average incidence of congenital bilateral sensori-neural loss in Avon was 1.53 per 1000 births (range 1.03 to 1.94 per 1000 births); the average incidence of ANSD was 0.24 per 1000 births (range 0 to 0.52 per 1000 births). Over a period of 8 years, 21 out of 134 (15.7%) children identified with abnormal air and bone conduction ABR thresholds were diagnosed with ANSD. It is not possible to predict the eventual audiogram from the initial test results when ANSD is diagnosed. Discussion: ANSD is an uncommon condition in newborn babies. These children with ANSD are highly likely to have a hearing loss of some degree. © W. S. Maney & Son Ltd 2013.

Midgley E.,Royal Hospital for Children
Cochlear Implants International | Year: 2013

More children with complex needs are being referred for cochlear implant assessment. Part of the assessment to determine whether the child is suitable for a cochlear implant and when tuning the implant itself is to try to obtain accurate threshold responses to acoustic or electrical stimuli. The behavioural and objective tests of hearing used to do this are outlined along with some of the issues when performing these tests on children with complex needs. Just because a child has complex needs as well as deafness should not mean they are ruled out for consideration for cochlear implantation. However there are issues which need to be addressed with the family prior to a decision. There is a lack of pre-operative candidature criteria and post-operative outcome measures specific for children with complex needs. A greater evidence base is needed to allow informed decisions to be made. © W. S. Maney & Son Ltd 2013.

Danton M.H.D.,Royal Hospital for Children
Seminars in Thoracic and Cardiovascular Surgery: Pediatric Cardiac Surgery Annual | Year: 2016

Regionalization, in the context of congenital heart surgery, describes a process where smaller units close and patients are redistributed to larger centers. Proponents argue this will produce superior patient outcome based primarily on a volume-outcome effect. The potential disadvantage is that, as distance to center increases, access to service is compromised. In this article the volume-outcome effect is appraised and the effect of risk-stratification and threshold volumes explored. Access to service, and how certain congenital lesions and demographics might be disadvantaged, is reviewed. Alternative models are considered including collaborative programing and a standardizing approach of agreed parameters in personnel and infrastructure. Finally the influence of newer developments and quality metrics, including outcome databases, digital technologies and team-cognitive performance, needs to be factored in as the future unfolds. Ultimately, the design of a national congenital cardiac program should aspire to deliver care that is optimal, equitable and economic for the whole population. The solution lies in the distillation of competing variables cognizant of regional demographics and geography. © 2016 Elsevier Inc.

Jenkins I.A.,Bristol Royal Hospital for Children | Jenkins I.A.,Royal Hospital for Children
Paediatric Anaesthesia | Year: 2011

Tolerance has been recognized for some time where chronic exposure to certain drugs, particularly benzodiazepines and opioids, is associated with apparent tachyphylaxis. When these drugs are stopped or progressively reduced as in 'tapering', withdrawal symptoms may result. Tolerance and the flip side of the coin, withdrawal, are the determinants of addiction. It is increasingly apparent that tolerance can occur acutely, even within the time span of a single anesthetic for a surgical procedure. Addiction is caused by agents, foreign to the body, that provoke adaptation by homeostatic biological processes. When these agents are withdrawn, the adaptive mechanisms, devoid of substrate, take time to diminish and produce symptoms recognizable under the term of 'withdrawal'. Children may be exposed to these agents in different ways; in utero, as a result of substances that the mother ingests by enteral, parenteral or inhalational means that are transmitted to the infant via the placenta; as a result of an anesthetic for surgery; or as a result of sedation and analgesia administered to offset the stresses and trauma inherent from intensive care treatment in the neonatal intensive care unit or pediatric intensive care unit. Additionally, anesthetic and intensive care staff are exposed to powerful and addictive drugs as part of everyday practice, not simply by overt access, but also by subliminal environmental exposure. © 2010 Blackwell Publishing Ltd.

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