Abstract:
AIMS:To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. METHODS:A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. RESULTS:Sixty one individuals were identified, of whom 23 were untraceable and one was unable to give informed consent. Biochemical investigations were performed on 27 subjects. Ten subjects had review of notes only. Four subjects had previously identified hypoparathyroidism. A new case of hypoparathyroidism was identified. Three subjects had borderline hypocalcaemia. DISCUSSION:In this population of patients with 22q11 deletion syndrome, 13% of the total or 30% of those biochemically assessed had evidence of reduced serum calcium concentrations. It is likely that 13-30% of patients with 22q11 deletion syndrome have possible hypoparathyroidism outside the neonatal period. Reported symptoms of hypocalcaemia did not correlate with biochemical evidence of persisting hypocalcaemia. We have shown that previously undiagnosed asymptomatic hypoparathyroidism occurs in patients with 22q11 deletion syndrome and conclude that screening of this population should be considered.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Taylor SC,Morris G,Wilson D,Davies SJ,Gregory JWdoi
10.1136/adc.88.6.520subject
Has Abstractpub_date
2003-06-01 00:00:00pages
520-2issue
6eissn
0003-9888issn
1468-2044journal_volume
88pub_type
杂志文章abstract:OBJECTIVE:To test the hypothesis that reduced fetal growth leads to altered plasma insulin-like growth factor-1 (IGF-1) concentrations in childhood. DESIGN:A follow up study of 4 year old children whose birth weights were recorded, and of 7 year old children whose weight, length, head circumference, and placental weig...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.73.4.287
更新日期:1995-10-01 00:00:00
abstract:OBJECTIVE:To examine and compare the characteristics of food protein-induced enterocolitis syndrome (FPIES) caused by rice and cow's milk/soy. DESIGN:Retrospective study of children presenting with FPIES to the Children's Hospital at Westmead, NSW, Australia, over a 16-year period. RESULTS:There were 14 children with...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2008.145144
更新日期:2009-03-01 00:00:00
abstract:AIMS:To compare the effectiveness of short course (2-4 days) with standard duration oral antibiotic treatment (7-14 days) for urinary tract infection (UTI). METHODS:Meta-analysis of randomised controlled trials using a random effects model. Ten trials were eligible, involving 652 children with lower tract UTI recruite...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,meta分析,评审
doi:10.1136/adc.87.2.118
更新日期:2002-08-01 00:00:00
abstract:BACKGROUND:Clinical examination, while useful, has been shown to be insufficient as the sole screening method in infants. Ultrasound examination at 8 weeks in high risk infants is an integral part of the screening process in some units. AIMS:To show the efficiency of hip sonography in detection of developmental dyspla...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2003.033597
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVE:To investigate the accuracy of morphine infusions prepared for neonates in relation to the label strength and to identify the differences in deviation between infusions made in neonatal intensive care unit (NICU) and those dispensed ready-to-use from pharmacy. METHODS:Unused portions of morphine solution for...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-304522
更新日期:2013-12-01 00:00:00
abstract::Hair growth measurements are a sensitive indicator of nutrition and we have assessed their value in the perinatal period. The proportion of growing roots and their diameter were studied at birth in 114 babies and repeated 3 weeks later in 29 low birthweight babies. Intrauterine malnutrition resulted in thinner roots b...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.4.290
更新日期:1978-04-01 00:00:00
abstract::Clinical trials in children in resource-poor environments are essential for local health policy and practice to be relevant and evidence based. Research must be ethical, appropriate, relevant and of good quality. It should, where possible, benefit the subjects studied,the clinical, scientific and support staff involve...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2011-301476
更新日期:2012-09-01 00:00:00
abstract:AIMS:To describe the epidemiology of children with traumatic brain injury (TBI) admitted to paediatric intensive care units (PICUs) in the UK. METHODS:Prospective collection of clinical and demographic information from paediatric and adult intensive care units in the UK and Eire between February 2001 and August 2003. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2005.072405
更新日期:2005-11-01 00:00:00
abstract::Of 80 children with proved coeliac disease, 2 presented with an associated disease of the distal portion of the large intestine. In one child the family history and the extension, localisation, and characteristics of intestinal lesions made us suspect ulcerative colitis; in the other we made a diagnosis of milk-induce...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.8.645
更新日期:1978-08-01 00:00:00
abstract:OBJECTIVE:To determine current use of vitamin K (VK) prophylaxis in newborns and review the efficacy and effectiveness of regimens used. DESIGN:Efficacy and effectiveness calculated using current practice details, data from Southern Ireland and two previous surveys, together with contemporaneous studies of vitamin K d...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2006.105304
更新日期:2007-09-01 00:00:00
abstract::Lipofuscin develops in cells when peroxidation damage occurs. Its development in the liver of patients receiving prolonged parenteral nutrition suggests that peroxidation damage by free radicals has occurred. Deficiencies in antioxidants such as vitamin E may be an important contributing factor. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.8.774
更新日期:1985-08-01 00:00:00
abstract:AIM:To assess the value and safety of fasts for investigating hypoglycaemia or suspected metabolic disease. STUDY DESIGN:Review of all diagnostic fasts performed over a 2.5 year period. SETTING:The neonatal intensive care unit and programmed investigation unit at a tertiary referral centre for endocrinology and metab...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.75.2.115
更新日期:1996-08-01 00:00:00
abstract::A preterm infant with classic phenylketonuria required rather less than 90 mg/kg of phenylalanine and between 270 and 290 mg/kg tyrosine daily to achieve a rate of weight gain of around 20 g/kg per day. Using Lofenalac as the low phenylalanine food, the intake of tyrosine, an essential amino acid for patients with phe...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.3.263
更新日期:1985-03-01 00:00:00
abstract:BACKGROUND:The National Institute for Health and Care Excellence (NICE) guidance for referral of children with suspected cancer was first published in 2005 and updated in 2015. The updated version relied on sparse primary care evidence and published without input from key stakeholders, for example, acute general paedia...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-317235
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:To review the clinical features, treatment, and outcome of children in the UK with Down's syndrome and acute myeloid leukaemia (AML). DESIGN:A retrospective study of 59 children with Down's syndrome and AML presenting between 1987 and 1995. Data were obtained from hospital case notes, trial records, and by q...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.81.1.32
更新日期:1999-07-01 00:00:00
abstract:INTRODUCTION:Despite immunisation, antibiotics and intensive care management, infection with Streptococcus pneumoniae remains a major cause of morbidity and mortality in children. The WHO currently recommends vaccinating infants with either a 3+0 schedule (6 weeks, 3-4 and 4-6 months of age) or 2+1 schedule (2 doses be...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/archdischild-2018-316254
更新日期:2019-07-01 00:00:00
abstract::Glucocorticoid suppressible hyperaldosteronism (GSH) is an uncommon form of dominantly inherited hypertension. Presentation with hypertension and complications such as stroke in early life are well recognised. The use of a simple genetic test carried out on blood or placenta facilitates the detection of infants and ch...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.1.40
更新日期:1994-07-01 00:00:00
abstract::We performed metabolic balance studies in 77 preterm infants fed on human milk or adapted formulas, to determine the renal solute load and compared it with the potential renal solute load estimated by the composition of the diet or the urine according to Ziegler's, Bergman's, and Shaw's calculations. The renal solute ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.4_spec_no.357
更新日期:1990-04-01 00:00:00
abstract::The temperatures of 587 children were taken before and after diphtheria/tetanus/pertussis (DTP) or diphtheria/tetanus (DT) vaccine. Only slight temperature increases were found but these were notably more frequent after plain than adsorbed DTP vaccine preparations and the frequency increased with each successive dose....
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.11.921
更新日期:1983-11-01 00:00:00
abstract:OBJECTIVES:To determine if there had been changes in the size of the UK paediatric workforce and working patterns between 1999 and 2013. DESIGN:Analysis of prospectively collected datasets. SETTING:UK consultant paediatricians. INTERVENTIONS:Data from the Royal College of Paediatrics and Child Health's workforce cen...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2016-312055
更新日期:2017-02-01 00:00:00
abstract::Remarkable advances have been made over the past decade in defining the burden of newborn mortality and morbidity and stillbirths, and in identifying interventions to address the major risk factors and causes of deaths. However, progress in saving newborn lives and preventing stillbirths in countries lags behind that ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305557
更新日期:2015-02-01 00:00:00
abstract::A method for securing umbilical catheters is described. It has been used successfully in over 350 babies. It is a simple and rapid method that allows for easy repositioning and, unlike some established techniques, has no potential for damage to the preterm baby's skin. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.7_spec_no.750
更新日期:1988-07-01 00:00:00
abstract::The morbidity pattern, based on hospital admissions for a complete year's cohort of all children born in Sheffield 1975-6, was studied. In many children the diagnosis given on admission had changed by the time they were discharged from hospital. About one-quarter of children under age 6 months were admitted for social...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.1.36
更新日期:1981-01-01 00:00:00
abstract::Standing height, sitting height, armspan, subischial leg length, head circumference, and growth hormone-insulin-like growth factor I (IGF-I) axis were determined in 86 patients with osteogenesis imperfecta. The aim of this study was to determine standing height and body proportions and their variability among osteogen...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.80.6.524
更新日期:1999-06-01 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
abstract::Tuberculosis rarely presents in the neonatal period. Though treatable, it may be fatal despite modern treatment. The diagnosis of congenital tuberculosis should be considered in any neonate with pneumonia that fails to respond to conventional treatment, particularly in a child from an ethnic or socioeconomic environme...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.5.512
更新日期:1986-05-01 00:00:00
abstract:AIMS:The Royal College of Paediatrics and Child Health (RCPCH) Science and Research Department was commissioned by the Department of Health to develop national care pathways for children with allergies: the asthma/rhinitis care pathway is the third such pathway. Asthma and rhinitis have been considered together. These ...
journal_title:Archives of disease in childhood
pub_type: 共识发展会议,杂志文章
doi:10.1136/adc.2011.213462
更新日期:2011-11-01 00:00:00
abstract::Catch-up growth of 26 children with growth hormone deficiency during four years of growth hormone treatment, which was started young (< 3 years), was compared with that of 16 children with coeliac disease on a gluten free diet. In children with growth hormone deficiency mean (SD) height SD score increased from -4.3 (1...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.72.5.427
更新日期:1995-05-01 00:00:00
abstract::A 6-week-old girl with fever, hypernatraemia, dehydration, and polyuria failed to concentrate urine in response to exogenous vasopressin administration. There was no family history of nephrogenic diabetes insipidus. When she was 15 months old, the infusion of vasopressin did not produce an increase in urinary cyclic-A...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.11.unknown
更新日期:1978-11-01 00:00:00
abstract:AIMS:To determine whether the use of negative pressure ventilation (NPV) was associated with a lower rate of endotracheal intubation in infants with recurrent apnoea secondary to acute bronchiolitis. METHODS:Retrospective review of two paediatric intensive care units (PICU) databases and case notes; one PICU offered N...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2003.039404
更新日期:2005-03-01 00:00:00