Abstract:
OBJECTIVES:Silver-Russell syndrome (SRS) is an imprinted disorder characterised by intrauterine growth retardation, relative macrocephaly, failure to thrive, typical facial phenotype and frequent body asymmetry. Feeding difficulties are frequently noted, but no study described evolution of gastrointestinal signs during infancy and their management in SRS. The aim of this study was to describe these abnormalities in a large cohort of children with SRS. DESIGN:We included 75 patients (median age 24.3 months (5.1-135.2)) in the study. We retrospectively analysed nutritional status before growth hormone therapy, the frequency of gastrointestinal signs, such as gastroesophageal reflux (GER), vomiting, constipation and feeding difficulties, and nutritional management. RESULTS:Maternal uniparental disomy for chromosome 7 was found in 10 patients and 11p15 hypomethylation in 65 patients. Malnutrition (defined as a weight/expected weight for height ratio <80%) was detected in 70% of the children. Gastrointestinal signs were found in 77%, including severe vomiting before the age of 1 year in 50% of cases, persistent vomiting from the age of 1 year in 29% of cases and constipation in 20% of cases. Severe GER was diagnosed in 55% of children by 24 h oesophageal pH-metry. Feeding difficulties were described in 65% of cases, with indications for dietary enrichment in 49%. Enteral nutrition by gastrostomy was indicated in 22% of cases. CONCLUSIONS:Digestive signs (GER, constipation) and malnutrition are frequent in children with SRS. The systematic exploration and management of these signs are crucial to improve the nutritional status of these children before initiating growth hormone therapy.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Marsaud C,Rossignol S,Tounian P,Netchine I,Dubern Bdoi
10.1136/archdischild-2013-305864subject
Has Abstractpub_date
2015-04-01 00:00:00pages
353-8issue
4eissn
0003-9888issn
1468-2044pii
archdischild-2013-305864journal_volume
100pub_type
杂志文章abstract:OBJECTIVE:To examine the risk of disability from unintentional injury in teenagers and young adults. METHODS:Analyses of data from the National Child Development Study, a follow up study of 98% of all children born in England, Scotland, and Wales in one week in March, 1958. In 1981, 12,537 study participants, 76% of t...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.75.2.156
更新日期:1996-08-01 00:00:00
abstract::Retrospective analysis of glycosylated haemoglobin concentrations in a diabetic outpatient clinic over three and a half years showed a small seasonal variation in the mean value with a peak in mid February and a nadir in mid August. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.9.959
更新日期:1987-09-01 00:00:00
abstract:OBJECTIVES:To develop and validate a new allergy-specific patient-reported experience measure (PREM) for children and their parents, and to collect feedback in an integrated care setting. DESIGN:Two allergy-specific PREMs were produced using focus groups, cognitive testing, two prospective validation studies (collabor...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2015-309598
更新日期:2016-10-01 00:00:00
abstract::A special conditions register (SCR) linked to the child health system's register of all children has been in use in West Sussex since 1977. This paper describes the aims, organisation, and use of the SCR and gives examples of the aggregated data that may be obtained. Of the 155,000 children aged 0-17 resident in West ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.8.927
更新日期:1991-08-01 00:00:00
abstract::Lymphocytes bearing the T cell receptor gamma delta (TCR-gamma delta) were searched for in human early milk lymphocyte suspensions by two colour cytofluorimetric analysis. It was found that the proportion of TCR-gamma delta+ cells was twofold greater in colostrum than in either autologous or heterologous blood samples...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.11.1274-a
更新日期:1990-11-01 00:00:00
abstract::The age at which retinopathy of prematurity was first seen was determined in 143 infants. In all, the initial ophthalmological examination was normal. Birth weights varied from 630 to 2700 g and gestational ages from 24.5 to 40.0 weeks. The median postnatal age at which acute retinopathy of prematurity was first seen ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.8.774
更新日期:1986-08-01 00:00:00
abstract::In a family in which the father carried a balanced translocation between chromosomes 15 and 22 two of his children had Prader-Willi syndrome and an unbalanced chromosome complement, having lost the proximal bands from the long arm of chromosome 15. His four other surviving children were normal but carried a balanced t...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.8.841
更新日期:1987-08-01 00:00:00
abstract::Serial recording in 45 low risk fetuses throughout the second and third trimesters showed that hiccups were the predominant diaphragmatic movement before 26 weeks' gestational age and that there was a significant negative correlation with gestational age. There was a pronounced reduction between 24 and 26 weeks, which...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.10_spec_no.1072
更新日期:1990-10-01 00:00:00
abstract:BACKGROUND:Intensive care patients are susceptible to developing painful corneal epithelial deficits. Provision of eye care to prevent deficits was limited in our paediatric intensive care unit (PICU) population. INTERVENTIONS:A new eye care bundle was introduced, comprising a guideline for eye care, the addition of e...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2015-310410
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVE:To determine whether the presence of in vitro penicillin-resistant Streptococcus pneumoniae increases the risk of clinical failure in children hospitalised with severe pneumonia and treated with penicillin/ampicillin. DESIGN:Multicentre, prospective, observational study. SETTING:12 tertiary-care centres in ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2006.111625
更新日期:2008-03-01 00:00:00
abstract::An outbreak of adenovirus type 8 conjunctivitis occurred in seven premature infants who had undergone ophthalmological examination four to seven days previously. Three of the affected infants, treated with steroids because of bronchopulmonary dysplasia, showed systemic manifestations and deterioration of their respira...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.68.5_spec_no.610
更新日期:1993-05-01 00:00:00
abstract::Chest physiotherapy still remains one of the most important aspects in the treatment of chest complications of cystic fibrosis. A mechanical device that allows the patient with cystic fibrosis to do his own chest physiotherapy will be of great benefit if it is as effective as manual percussion. 14 patients with cystic...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.54.7.542
更新日期:1979-07-01 00:00:00
abstract:BACKGROUND:The isolated finding of an unexplained chronic subdural haematoma in an infant may suggest non-accidental head injury (NAHI). The authors report a previously undescribed cause of multifocal chronic subdural haematoma in infancy which could result in a misdiagnosis of previous NAHI. METHODS:Two infants, aged...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2010.194746
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVE:To study the effect of modified polyunsaturated fatty acid (PUFA) profiles of complementary food on long-chain (LC) PUFA composition in healthy infants. DESIGN:Double blinded, randomised, controlled intervention trial. SETTING:Dortmund, Germany. PATIENTS:Free-living sample of healthy term infants. METHODS...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/adc.2008.146027
更新日期:2009-11-01 00:00:00
abstract::Thirty-eight infants with severe hyperosmolar dehydration and hypernatraemia were treated, using three regimens of intravenous fluids: A. 1/2 normal saline, given fast; B.1/2 normal saline given slowly; C. 1/5 normal saline. 28 of the infants were studied in a treatment trial, and it is concluded tha 0-18% saline in 4...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.50.3.179
更新日期:1975-03-01 00:00:00
abstract::Sixteen blind babies who were considered to be showing the characteristics of delayed visual maturation were studied prospectively. The diagnosis was made on clinical grounds, and the criteria for this are discussed. All of these infants developed visual responses between 4 and 6 months of age and had normal or near n...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.2.107
更新日期:1984-02-01 00:00:00
abstract::An adult woman with pseudopseudohypoparathyroidism had a child with normal calcium and parathyroid hormone concentrations and cyclic AMP response to injected parathyroid hormone in infancy. By 2.5 years he had features of pseudohypoparathyroidism with raised parathyroid hormone and 'flat' cyclic AMP response. This is ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.70.4.337
更新日期:1994-04-01 00:00:00
abstract::Diseases causing high mortality in children under 5 years of age in resource limited settings (RLS) could be treated if children in these countries had access to existing medicines. It took 30 years before the WHO Essential Medicines List (EML) considered the issue of medicines for children, with the first EML for chi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2009.180000
更新日期:2011-08-01 00:00:00
abstract::This study compared the availability and the licensing status of analgesic drugs marketed in three European countries (Italy, France and the UK) and evaluated the evidence on safety and efficacy in the paediatric population of the drugs reported in the European Medicines Evaluation (EMA) document "Assessment of Pediat...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2009.179549
更新日期:2010-09-01 00:00:00
abstract::Samples of saliva (4 in 24 hours), collected at monthly intervals for the first 6 months of life in 8 term infants by their mothers, were analysed for cortisol by radioimmunoassay. Values in the first month were more variable, daily mean values were greater, and amplitudes of variation were greater than in subsequent ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.6.454
更新日期:1983-06-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305147
更新日期:2014-08-01 00:00:00
abstract::We describe a non-progressive choreo-athetoid disorder of early onset, present in three families. There were no appreciable abnormalities in pregnancy, during the perinatal period, or in infancy. In each case the family history suggested transmission as an autosomal dominant trait, the gene showing diminished penetran...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.8.616
更新日期:1981-08-01 00:00:00
abstract::The metabolism and excretion of paracetamol was studied in an infant of 29 weeks' gestation who was exposed to the drug when his mother ingested 32.5 g 16 hours before delivery. We have confirmed that sulphation is the major pathway and that the mixed function oxidase system is sufficiently active at this gestational ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.8.631
更新日期:1983-08-01 00:00:00
abstract:AIMS:To describe the epidemiology of intussusception and its relation to rotavirus associated hospitalisation in New Zealand. METHODS:National hospital discharge data between January 1998 and June 2003 for all children younger than 3 years of age with intussusception were reviewed. Independently, children from the sam...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2005.074104
更新日期:2005-10-01 00:00:00
abstract::A significant proportion of children with anorectal malformations have long term problems with faecal continence. The psychological consequences of this chronic disability was assessed in 160 children and adolescents. The prevalence of clinically significant emotional problems among the sample overall, as assessed by ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.3.194
更新日期:1994-09-01 00:00:00
abstract::Forty six of 142 infants weighing less than 1500 g at birth, who had chest radiographs in the first 5 days of life, developed pulmonary interstitial emphysema (PIE) and in 19 this occurred in the first 24 hours. PIE was seen more frequently in infants weighing less than 1000 g at birth (24 of 57) than in those weighin...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.8.612
更新日期:1983-08-01 00:00:00
abstract:BACKGROUND:Mauriac syndrome is characterised by growth failure, cushingoid appearance and hepatomegaly which occurs in patients with insulin dependent diabetes and was first described shortly after the introduction of insulin as a treatment for the condition. OBJECTIVE:To describe the clinical features, histological f...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-304426
更新日期:2014-04-01 00:00:00
abstract::The fall in body temperature that occurs in babies soon after birth is influenced by the baby's weight and its environmental conditions. The rate of oxygen consumption 1 1/2 hours after birth was unrelated to body temperature and only slightly raised, indicating a limited thermogenic capacity. A radiant heater effecti...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.1.58
更新日期:1978-01-01 00:00:00
abstract:OBJECTIVES:To assess the potential effect of two guideline discharge oxygen saturation (SpO(2)) recommendations (≥90% and ≥94%) in recovering bronchiolitis. METHODS AND PATIENTS:Infants aged up to 18 months requiring therapeutic oxygen for SpO(2) (≤93%) had SpO(2) assessed in air every 2 h. Time from admission to re-e...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2010.205211
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVE:To determine the sensitivity of differential avian and human delayed-type hypersensitivity skin testing in the diagnosis of non-tuberculous mycobacterial lymphadenitis. METHOD:Retrospective review of all patients with culture proved non-tuberculous mycobacterial lymph node infections who also had differentia...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.80.4.377
更新日期:1999-04-01 00:00:00