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Samarasinghe S.,Royal Infirmary | Webb D.K.H.,Great Ormond Street Hospital
British Journal of Haematology | Year: 2012

Aplastic anaemia (AA) is a rare heterogeneous condition in children. 15-20% of cases are constitutional and correct diagnosis of these inherited causes of AA is important for appropriate management. For idiopathic severe aplastic anaemia, a matched sibling donor (MSD) haematopoietic stem cell transplant (HSCT) is the treatment of choice. If a MSD is not available, the options include immunosuppressive therapy (IST) or unrelated donor HSCT. IST with horse anti-thymocyte globulin (ATG) is superior to rabbit ATG and has good long-term results. In contrast, IST with rabbit ATG has an overall response of only 30-40%. Due to improvements in outcome over the last two decades in matched unrelated donor (MUD) HSCT, results are now similar to that of MSD HSCT. The decision to proceed with IST with ATG or MUD HSCT will depend on the likelihood of finding a MUD and the differing risks and benefits that each therapy provides. © 2012 Blackwell Publishing Ltd.

Rees L.,Great Ormond Street Hospital
Pediatric Nephrology | Year: 2013

European guidelines for the assessment and management of atypical HUS were written in 2009. Since then our understanding of this group of diseases has advanced. Evidence is emerging that eculizumab, a monoclonal antibody inhibiting C5 activation, is effective, and potentially superior to current treatment with plasmapheresis. The evidence base for the benefits of plasmapheresis consists of case series and small reports. Before we embark on a change of management policy it is vital that we set up a system for genetic diagnosis, standardised protocols and a means to collect predetermined outcome measures, so that we do not make the same mistakes with assessment of the effectiveness of eculizumab as we did for plasmapheresis. © 2013 IPNA.

Bryant-Waugh R.,Great Ormond Street Hospital
International Journal of Eating Disorders | Year: 2013

Avoidant/restrictive food intake disorder (ARFID) is a new diagnostic category in DSM-5. Although replacing Feeding Disorder of Infancy or Early Childhood, it is not restricted to childhood presentations. In keeping with the broader aim of revising and updating criteria and text to better reflect lifespan issues and clinical expression across the age range, ARFID is a diagnosis relevant to children, adolescents, and adults. This case example of a 13-year old boy with ARFID illustrates key issues in diagnosis and treatment planning. The issues discussed are not exhaustive, but serve as a guide for central diagnostic and treatment issues to be considered by the clinician. It is anticipated that the inclusion of specific criteria for ARFID as a category within Feeding and Eating Disorders in DSM-5 will stimulate research into its typology, prevalence, and incidence in different populations and facilitate the development of effective, evidence-based interventions for this patient group. Copyright © 2013 Wiley Periodicals, Inc.

Larcher V.,Great Ormond Street Hospital
Seminars in Fetal and Neonatal Medicine | Year: 2013

Decisions regarding the end-of-life care of neonates, especially those at the limits of viability, cannot be made on the basis of clinical facts alone. They should take into account the values and beliefs of all concerned. Application of classical moral theories may take insufficient account of the interests of small babies. Due consideration needs to be given to the value and quality of babies' lives, their best interests, and the interests of their parents in practical decision-making. Life-sustaining treatments can be withheld or withdrawn if they no longer serve the baby's best interests, but active euthanasia (though an acceptable practice in The Netherlands) remains illegal in the UK. Withdrawal of clinically assisted nutrition and hydration can be ethical but remains controversial. If organ donation in UK neonates is to become established it will need to respond to the changing characteristics of neonatal deaths in ways that are ethically and socially sensitive. © 2012 Elsevier Ltd.

Burns A.J.,University College London | Thapar N.,Great Ormond Street Hospital
Nature Reviews Gastroenterology and Hepatology | Year: 2014

The enteric nervous system is vulnerable to a range of congenital and acquired disorders that disrupt the function of its neurons or lead to their loss. The resulting enteric neuropathies are some of the most challenging clinical conditions to manage. Neural stem cells offer the prospect of a cure given their potential ability to replenish missing or dysfunctional neurons. This article discusses diseases that might be targets for stem cell therapies and the barriers that could limit treatment application. We explore various sources of stem cells and the proof of concept for their use. The critical steps that remain to be addressed before these therapies can be used in patients are also discussed. Key milestones include the harvesting of neural stem cells from the human gut and the latest in vivo transplantation studies in animals. The tremendous progress in the field has brought experimental studies exploring the potential of stem cell therapies for the management of enteric neuropathies to the cusp of clinical application. © 2014 Macmillan Publishers Limited. All rights reserved.

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