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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. Source

Klusmann M.,University College London | Van'T Hoff W.,Great Ormond Street Hospital for Children | Monsell F.,Royal Hospital for Children | Offiah A.C.,Academic Unit of Child Health
Skeletal Radiology | Year: 2014

Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder in which intracellular cystine accumulates. It is caused by mutations in the CTNS gene. Clinical manifestations include renal tubular Fanconi syndrome in the first year of life, rickets, hypokalaemia, polyuria, dehydration and acidosis, growth retardation, hypothyroidism, photophobia and renal glomerular deterioration. Late complications include myopathy, pancreatic insufficiency and retinal blindness. Skeletal manifestations described in these patients include failure to thrive, osteomalacia, rickets and short stature. This paper describes progressive bony abnormalities in three unrelated patients with nephropathic cystinosis that have not been reported previously. © 2013 ISS. Source

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. Source

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. Source

Roberts A.E.,Boston Childrens Hospital | Nixon C.,University of Florida | Steward C.G.,Royal Hospital for Children | Gauvreau K.,Boston Childrens Hospital | And 5 more authors.
American Journal of Medical Genetics, Part A | Year: 2012

Barth syndrome (BTHS); MIM accession # 302060) is a rare X-linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities. The objectives of this study were to further elucidate the natural history, clinical disease presentation, and course, and describe growth characteristics for males with BTHS. Patients with a confirmed genetic diagnosis of BTHS are referred to the BTHS Registry through the Barth Syndrome Foundation, self-referral, or physician referral. This study is based on data obtained from 73 subjects alive at the time of enrollment that provided self-reported and/or medical record abstracted data. The mean age at diagnosis of BTHS was 4.04±5.45 years. While the vast majority of subjects reported a history of cardiac dysfunction, nearly 6% denied any history of cardiomyopathy. Although most subjects had only mildly abnormal cardiac function by echocardiography reports, 70% were recognized as having cardiomyopathy in the first year of life and 12% have required cardiac transplantation. Of the 73 enrolled subjects, there have been five deaths. Growth curves were generated demonstrating a shift down for weight, length, and height versus the normative population with late catch up in height for a significant percentage of cases. This data also confirms a significant number of patients with low birth weight, complications in the newborn period, failure to thrive, neutropenia, developmental delay of motor milestones, and mild learning difficulties. However, it is apparent that the disease manifestations are variable, both over time for an individual patient and across the BTHS population. © 2012 Wiley Periodicals, Inc. Source

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