Abstract:
:In recent years, there have been significant advances in genetic technologies, evolving the field of genomics from genetics. This has huge diagnostic potential, as genomic testing increasingly becomes part of mainstream medicine. However, there are numerous potential pitfalls in the interpretation of genomic data. It is therefore essential that we educate clinicians more widely about the appropriate interpretation and utilisation of genomic testing.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Hammond CL,Willoughby JM,Parker MJdoi
10.1136/archdischild-2017-314558subject
Has Abstractpub_date
2018-09-01 00:00:00pages
895-900issue
9eissn
0003-9888issn
1468-2044pii
archdischild-2017-314558journal_volume
103pub_type
杂志文章,评审abstract::Seven children with precocious puberty were treated with cyproterone acetate and their adrenal function studied. In each child the drug caused significant adrenal hypofunction which was secondary to adrenocorticotrophic hormone suppression. None of these children had clinical evidence of adrenal hypofunction and it is...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.3.218
更新日期:1981-03-01 00:00:00
abstract::Adrenal cortical carcinoma in a 4 1/4-month-old girl was treated by surgery in combination with actinomycin D, cyclophosphamide, and 5-fluorouracil given daily for 5 days every third week for 13 1/2 months. Postoperative hypertension and raised 24-hour 17-hydroxy- and 21-oxosteroids suggested residual microscopical tu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.4.342
更新日期:1978-04-01 00:00:00
abstract::Eighteen children with pneumocystis carinii pneumonia diagnosed over a period of 16 years at a children's hospital are reviewed. All had an underlying disease, either congenital immunodeficiency or a malignancy. 15 patients were treated, 10 with pentamidine isethionate alone, 2 with both pentamidine and co-trimoxazole...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.4.314
更新日期:1977-04-01 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::Mortality from cystic fibrosis throughout childhood is more than twice as high in England and Wales than it is in the State of Victoria, Australia. Possible reasons for this difference are reviewed. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.1.71
更新日期:1984-01-01 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:OBJECTIVES:Congenital laryngomalacia (CLM) is the major cause of stridor in infants. Most cases are expected to resolve before 2 years of age, but long-term respiratory prospects are poorly described. We aimed to investigate if CLM was associated with altered laryngeal structure or function in later life. METHODS:Twen...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2015-308450
更新日期:2016-05-01 00:00:00
abstract:AIM:To produce a growth reference for British children with Williams syndrome. METHODS:The children and adults recruited into the study were all affiliated to the Williams Syndrome Foundation, a parent support group founded in 1979. They have all been shown to have a deletion of chromosome 7q11.23. One growth nurse (W...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2006.107946
更新日期:2007-07-01 00:00:00
abstract::Thirty six children with typical features of Angelman's syndrome, including global developmental delay, ataxia, episodes of paroxysmal laughter, seizures, and microcephaly were studied. The series included three sibships of three affected sisters, two affected brothers, and two affected sisters, respectively. The faci...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.1.83
更新日期:1989-01-01 00:00:00
abstract:AIMS:To develop and implement an evidence based guideline for the treatment of acute asthma using a metered dose inhaler and spacer combination. METHODS:Defined strategies were used for the development and implementation of a guideline, assessed by a prospective, descriptive, study using notes review, and patient, nur...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.84.2.142
更新日期:2001-02-01 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:AIM:To investigate the emotional reactions of registrars following the death of a child. METHODS:A multicentre study to determine the sources of support for registrars and the use of debriefing following a child's death. A questionnaire was sent or given to registrars within the South West Region. RESULTS:There was a...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2005.076760
更新日期:2006-09-01 00:00:00
abstract::Altogether 38 postpubertal children with coeliac disease were rebiopsied. Mucosal abnormality in nine (24%) of them indicated poor adherence to the diet. Gluten challenge with a diet containing a normal amount of gluten was performed in those 29 patients with a normal mucosa. During challenge, rebiopsy was done when r...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.11.1604
更新日期:1989-11-01 00:00:00
abstract::The occurrence of symptomatic congenital cytomegalovirus (CMV) infection in two consecutive sisters is reported. The first sibling showed hepatosplenomegaly with slight hyperbilirubinaemia and abnormal liver function tests, right inguinal hernia, and peripheral lymphoedema. Her sister, the product of an uneventful pre...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.69.5_spec_no.527
更新日期:1993-11-01 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:AIM:Several studies have suggested a beneficial effect of infant breastfeeding on childhood cognitive function. The main objective was to examine whether duration of breastfeeding and age at introduction of complementary foods are related to cognitive performance in 9- to 10-year-old school-aged children in South India...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.165159
更新日期:2010-05-01 00:00:00
abstract::Therapeutic drug monitoring (TDM) aims to integrate drug measurement results into clinical decision making. The basic rules apply when using TDM in neonates (aminoglycosides, vancomycin, phenobarbital, digoxin), but additional factors should also be taken into account. First, due to both pharmacokinetic variability an...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2013-305309
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVES:To assess the persistence of serum Haemophilus influenzae type b antibodies and the prevalence of H influenzae type b carriage in a group of preschool age children previously vaccinated in infancy. DESIGN:Names were randomly selected from immunisation records. Families were visited on five occasions over a ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.77.6.488
更新日期:1997-12-01 00:00:00
abstract::Eighty four very low birthweight babies (considered high risk for developing necrotising enterocolitis) were given vancomycin orally for 48 hours before introduction of oral feeds; one developed necrotising enterocolitis. One hundred and twenty very low birthweight babies (not considered such high risk) were fed witho...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.11.1390
更新日期:1988-11-01 00:00:00
abstract:OBJECTIVE:To investigate the mental health of children and adolescents admitted to neonatal intensive/special care units (NICUs) in infancy. METHODS:This cross-sectional study used a provincially representative cohort from the 2014 Ontario Child Health Study. Parents provided data on psychiatric disorders using the MI...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-318284
更新日期:2020-07-01 00:00:00
abstract:BACKGROUND/AIM:The British Committee for Standards in Haematology currently recommends concomitant splenectomy in children with mild hereditary spherocytosis (HS) undergoing cholecystectomy for symptomatic gallstones. However, splenectomy is associated with a risk of life-threatening infection, particularly in young ch...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.178228
更新日期:2010-08-01 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::Twenty five patients with encephalitis were studied prospectively, and their clinical and virological features compared with outcome. Among 22 patients with laboratory confirmation of virus infection, evidence of direct effect on the central nervous system by the virus occurred significantly more often both in those w...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.11.1156
更新日期:1987-11-01 00:00:00
abstract::Thirty-two children with a past diagnosis of coeliac disease were reinvestigated by means of gluten challenge. They had received a gluten-free diet for a mean period of 6-5 years (range 0-25-11-0) before gluten challenge, and had a mean age of 9-9 years (range 3-0-15-3) at the onset of challenge. Small intestinal biop...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.6.449
更新日期:1978-06-01 00:00:00
abstract::The study of gastric emptying in the preterm infant has been hampered by the absence of a suitable, valid technique. We have evaluated gastric antral clearance using serial ultrasonic measurement of the antral cross sectional area (ACSA). The study was easy to perform, providing successful results in 15 of 17 low birt...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.69.1_spec_no.32
更新日期:1993-07-01 00:00:00
abstract::In 100 patients with cystic fibrosis the severity of steatorrhoea was assessed by three separate methods. Using chemical faecal fat assay as the gold standard, two other rapid and inexpensive methods were compared with it. The steatocrit method proved unreliable in our hands and gave little indication of the presence ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.1.99
更新日期:1990-01-01 00:00:00
abstract::An intravenous glucagon test was performed in 8 children with familial constitutional short stature who were also lean. These children were randomly selected from a larger group of children with the same clinical manifestation and who had been shown to have a low insulin response to an oral glucose tolerance test and ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.50.10.805
更新日期:1975-10-01 00:00:00
abstract::Of the 265 children aged between 6 and 18 months admitted to hospital in a 26-month period each with his first febrile convulsion, there were 64 who satisfied our criteria for a simple febrile convulsion. Of these, 43 (random) were entered into a double-blind trial of continuous sodium valproate versus phenobarbitone,...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.55.3.171
更新日期:1980-03-01 00:00:00
abstract::A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many of the features of aging, it is probably that the presence o...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.9.722
更新日期:1978-09-01 00:00:00
abstract::The association between current micturition habits and previous urinary tract infection was analysed among 3553 school entrants aged 7 years by means of a questionnaire. A high incidence of urinary infection, confirmed by urine culture, was found (145 (8.4%) in the 1719 girls and 32 (1.7%) in the 1834 boys). There was...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.2.232
更新日期:1991-02-01 00:00:00