Stark D.,Leeds Teaching Hospital NHS Trust |
Lewis I.,Alderhey Childrens Hospital
Klinische Padiatrie | Year: 2013
The management of TYA with cancer is characterized by biological features in comparison to children. Therefore specialized treatment units have been established within professional structures of care for this group, and a European multidisciplinary framework for the treatment of TYA with cancer was founded. Objectives are to promote interdisciplinary collaboration and provide strategic concepts to improve patient care centered to the special needs of this age group. Access to clinical trials for all TYA in the EU will be improved and research initiated, examining biology, epidemiology and health services. Special goals of the interprofessional cooperation are: Improvement in survival and the quality of survival, where TYA are disadvantaged by existing structures of care. Provision of all the required expertise in dedicated and effective multiprofessional teams, sometimes across traditional healthcare boundaries. Provision of an environment for care that meets the specific needs of TYA. Different measurements are discussed improving outcomes for TYA is proceeding at different speeds in different parts of the world. In some there are established teams, bringing together paediatric and adult specialists from many healthcare professions, reviewing and contributing to the optimal care of all TYA with cancer as part of national health policy. © Georg Thieme Verlag KG Stuttgart, New York.
Eckhardt C.L.,Emma Childrens Hospital |
Van Velzen A.S.,Emma Childrens Hospital |
Peters M.,Emma Childrens Hospital |
Astermark J.,Skåne University Hospital |
And 42 more authors.
Blood | Year: 2013
Neutralizing antibodies (inhibitors) toward factor VIII form a severe complication in nonsevere hemophilia A, profoundly aggravating the bleeding pattern. Identification of high-risk patients is hampered by lack of data that take exposure days to therapeutic factor VIII concentrates into account. In the INSIGHT study, we analyzed the association between F8 mutation and inhibitor development in patients with nonsevere hemophilia A (factor VIII 2-40 IU/dL). This analysis included 1112 non-severe hemophilia A patients from 14 centers in Europe and Australia that had genotyped at least 70% of their patients. Inhibitor risk was calculated as Kaplan-Meier incidence with cumulative number of exposure days as the time variable. During 44 800 exposure days (median, 24 exposure days per patient; interquartile range [IQR], 7-90), 59 of the 1112 patients developed an inhibitor; cumulative incidence of 5.3% (95% confidence interval [CI], 4.0-6.6) after a median of 28 exposure days (IQR, 12-71). The inhibitor risk at 50 exposure days was 6.7% (95% CI, 4.5-8.9) and at 100 exposure days the risk further increased to 13.3% (95% CI, 9.6-17.0). Among a total of 214 different F8 missense mutations 19 were associated with inhibitor development. These results emphasize the importance of F8 genotyping in nonsevere hemophilia A. ( Blood . 2013; 122(11):1954-1962) © 2013 by The American Society of Hematology.
PubMed | Northern General Hospital, Alderhey Childrens Hospital, Semmelweis University, Klinikum am Steinenberg and 56 more.
Type: Journal Article | Journal: Molecular genetics and metabolism | Year: 2015
There appears little consensus concerning protein requirements in phenylketonuria (PKU).A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics.The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n=24 centres) (infants <1 year, >2-3g/kg/day; 1-3 years of age, >2-3 g/kg/day; 4-10 years of age, >1.5-2.5 g/kg/day) and Southern Europe (n=10 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, 2 g/kg/day; 4-10 years of age, 1.5-2 g/kg/day), than by Eastern Europe (n=4 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, >2-2.5 g/kg/day; 4-10 years of age, >1.5-2 g/kg/day) and with Western Europe (n=25 centres) giving the least (infants <1 year, >2-2.5 g/kg/day, 1-3 years of age, 1.5-2 g/kg/day; 4-10 years of age, 1-1.5 g/kg/day). Total protein prescription was similar in patients aged >10 years (1-1.5 g/kg/day) and maternal patients (1-1.5 g/kg/day).The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.
PubMed | Radboud UMC, UniversitatsSpital Zurich, Alderhey Childrens Hospital, Childrens Hospital and 38 more.
Type: Comparative Study | Journal: Molecular genetics and metabolism | Year: 2015
Dietary management of 418 adult patients with galactosaemia (from 39 centres/12 countries) was compared. All centres advised lactose restriction, 6 restricted galactose from galactosides fruits and vegetables and 12 offal. 38% (n=15) relaxed diet by: 1) allowing traces of lactose in manufactured foods (n=13) or 2) giving fruits, vegetables and galactosides (n=2). Only 15% (n=6) calculated dietary galactose. 32% of patients were lost to dietetic follow-up. In adult galactosaemia, there is limited diet relaxation.
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.
Renji E.,Alderhey Childrens Hospital |
Nathan A.K.,Arrowe Park Hospital |
Dalzell M.A.,Alderhey Childrens Hospital
BMJ Case Reports | Year: 2013
A 12-year-old girl with Smith-Lemli-Opitz syndrome and gastrostomy dependency presented with multiple episodes of coffee ground vomits. An upper gastrointestinal endoscopy revealed a trichobezoar in the lower oesophagus, with a 'hidden treasure'-a retained end of a G tube at the core. Endoscopic retrieval led to resolution of symptoms. Literature is scant with only one previous report of an oesophageal trichobezoar. Techniques of removal of percutaneous endoscopic gastrostomy in children are reviewed. The pathogenesis, preventative measures and management for oesophageal trichobezoars are discussed. Copyright 2013 BMJ Publishing Group.
Renji E.,Alderhey Childrens Hospital
BMJ case reports | Year: 2013
A 12-year-old girl with Smith-Lemli-Opitz syndrome and gastrostomy dependency presented with multiple episodes of coffee ground vomits. An upper gastrointestinal endoscopy revealed a trichobezoar in the lower oesophagus, with a 'hidden treasure'-a retained end of a G tube at the core. Endoscopic retrieval led to resolution of symptoms. Literature is scant with only one previous report of an oesophageal trichobezoar. Techniques of removal of percutaneous endoscopic gastrostomy in children are reviewed. The pathogenesis, preventative measures and management for oesophageal trichobezoars are discussed.
George H.L.,AlderHey Childrens Hospital |
Unnikrishnan P.N.,AlderHey Childrens Hospital |
Garg N.K.,AlderHey Childrens Hospital |
Sampath J.,AlderHey Childrens Hospital |
Bruce C.E.,AlderHey Childrens Hospital
Journal of Pediatric Orthopaedics Part B | Year: 2011
The use of foot abduction orthosis [Denis Browne boot (DBB)] is vital for maintaining correction after the Ponseti technique for treating idiopathic clubfoot. Lack of adherence to DBB regimen is reported to be a potent cause for recurrence. Adherence to the boots and bars programme is difficult and patients sometimes resist their use. The evaluation of alternatives that may facilitate adherence is therefore necessary and reasonable. There are less data published regarding the outcome after the use of alternative splints. In patients who showed poor adherence to DBB, we introduced a novel unilateral foot abduction orthosis (UFAO) as an alternative. The aim of this study was to determine whether the recurrence rates were increased by exchanging DBB with UFAO in nonadherent patients and to find out whether UFAO was more acceptable to families who had refused to use DBB. We reviewed 27 children with 35 idiopathic clubfeet. Twenty-three patients used the boots and bars programme for the first 3 months after completion of serial casting, before UFAO was introduced into the treatment plan for resistance to DBB usage. In four cases, UFAO was commenced immediately after the serial casting. The mean follow-up was 25 months (16-36 months). Most families reported that UFAO was easier for their child to use and facilitated adherence was observed. Recurrence (the need for further casting or operation) was observed in 11 feet. Six of these 11 recurrences responded favourably to a further period of serial casting with or without repeated tendoachilles tenotomy. Three of these 11 patients responded favourably to tibialis anterior transfer and two required a traditional posteromedial release. The recurrence rates in patients using UFAO were higher compared with those reported by others using DBB after Ponseti serial casting. Our results indicated that although a unilateral orthosis is preferred and accepted by families who do not adhere to a DBB regimen, recurrence with UFAO use is higher. This study therefore questions the effectiveness of UFAO as an alternative to DBB. The importance of following the original method described by Ponseti should be stressed. © 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.