Abstract:
:Six families with at least one infant each with confirmed ornithine transcarbamylase deficiency were investigated by DNA analysis. All the affected sons had died, and no DNA had been stored. Using the restriction endonucleases MspI and Bam HI three restriction fragment length polymorphisms were detected which led to eight distinct haplotypes. Using these results and those of protein loading tests that diagnosed heterozygote (carrier) status in some family members, some carriers were detected, and prenatal diagnosis was offered to two families. In two further families no polymorphisms were found and no prenatal diagnosis was possible. In the remaining two families prenatal diagnosis was impossible because of the lack of DNA from an affected or unaffected son, or in one case from the father, of an obligate carrier. These studies emphasise the importance of preserving tissue for DNA extraction from infants dying of inborn errors of metabolism, and also show the way in which information from conventional biochemical studies can complement diagnostic tests using DNA.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Svirklys LG,Wilcken B,Hammond J,Mackinlay AG,O'Sullivan WJdoi
10.1136/adc.63.3.297subject
Has Abstractpub_date
1988-03-01 00:00:00pages
297-302issue
3eissn
0003-9888issn
1468-2044journal_volume
63pub_type
杂志文章abstract::Two very preterm infants (born at 29 and 25 weeks, respectively) were found to have abnormal ribs. Though this was thought unimportant at the time, it was subsequently shown to indicate that some members of their families had a dominantly inherited risk of developing skin cancer and other serious problems. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.10_spec_no.1162
更新日期:1991-10-01 00:00:00
abstract::Real time ultrasonography of the pelvic organs was performed on 114 normal premenarcheal girls aged between 2 years and 13 years 11 months. Values were obtained for total uterine length, anteroposterior diameters of the corpus and cervix, corpus/cervix ratio, and uterine and ovarian volumes and the resultant data were...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.2.120
更新日期:1985-02-01 00:00:00
abstract:BACKGROUND:The primary aim was to evaluate the efficacy of financial incentives for reducing paediatric tobacco smoke exposures (TSEs) through motivating cigarette usage reduction among low-income maternal caregivers and members of their social network. DESIGN:Randomised control pilot trial over a 6-month study follow...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-318352
更新日期:2020-10-01 00:00:00
abstract::A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region delet...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.68.2.187
更新日期:1993-02-01 00:00:00
abstract::We studied two neonates fed diluted formula and excessive water who developed hyponatraemic convulsions; treatment included intravenous hypertonic saline and water restriction. Educating mothers is important to stop recurrences. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.5.734
更新日期:1989-05-01 00:00:00
abstract:AIMS:Out-of-hospital sudden cardiac arrest (SCA) is a rare but devastating event in children and adolescents. The risk is assumed to be higher in children with congenital heart defects (CHDs) than in healthy individuals. The aim of the present study was to investigate the rate of and survival after out-of-hospital card...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-312621
更新日期:2018-01-01 00:00:00
abstract::The urinary citrate/creatinine ratio was evaluated in 25 children with idiopathic calcium urolithiasis and 24 controls. The mean (SD) urinary citrate/creatinine ratio in controls and patients was 0.510 (0.205) and 0.181 (0.076), respectively, a statistically significant difference. In neither group was there a relatio...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.74.4.350
更新日期:1996-04-01 00:00:00
abstract:AIMS:To examine short term and long term health related quality of life (HRQoL) of survivors of congenital anorectal malformations (ARM) and congenital diaphragmatic hernia (CDH), and to compare these patients' HRQoL with that of the general population. METHODS:HRQoL was measured in 286 ARM patients and 111 CDH patien...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2002.016543
更新日期:2004-09-01 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::This study describes the pattern of oxygen consumption (VO2), rectal temperature (Tr), and acral skin temperature (Tac) in sleeping and resting (awake) burned children nursed in a thermoneutral environment. Measurements of respiratory gas exchange (VO2 and carbon dioxide production (VCO2)) were made using an open circ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.1.31
更新日期:1994-07-01 00:00:00
abstract::We describe our technique of small bowel biopsy, which has been used on 190 occasions over a four year period. In 77%, the examination was completed within 10 minutes, and fluoroscopy times were less than 10 seconds in 75% of the cases. The technique is easily taught, and it has made the examination a minor procedure....
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.11.1082
更新日期:1985-11-01 00:00:00
abstract::A 19 day old infant was successfully resuscitated from ventricular fibrillation. The 12 lead ECG was normal, with a normal QT interval, and remains so over three years follow up. DNA analysis revealed a missense mutation (R1193Q) in the SCN5A gene, previously linked with familial sudden unexpected nocturnal death synd...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2004.058115
更新日期:2005-05-01 00:00:00
abstract:OBJECTIVE:To describe the epidemiology of pedestrian road traffic injury in Lima and to identify associated child-level, family-level, and school travel-related variables. DESIGN:Case-control study. SETTING:The Instituto Nacional de Salud del Niño, the largest paediatric hospital in the city. PARTICIPANTS:Cases were...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2011-300997
更新日期:2012-08-01 00:00:00
abstract::This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Ei...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.78.2.159
更新日期:1998-02-01 00:00:00
abstract::In a study of 256 families, among whom were twins, midparent-adult son correlations for height, weight, and combined skinfold measurements were 0.67, 0.47, and 0.23 respectively. The corresponding midparent-adult daughter correlations were 0.63, 0.42, and 0.24. Midparent-growing offspring correlations were highest for...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.11.877
更新日期:1979-11-01 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:OBJECTIVE:We systematically evaluated health and nutrition programmes to identify context-specific interventional packages that might help to prioritise the implementation of programmes for reducing stunting in low and middle income countries (LMICs). METHODS:Electronic databases were used to systematically review the...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2016-311050
更新日期:2017-10-01 00:00:00
abstract::Linkage of bacterial capsular polysaccharides to proteins to create conjugate vaccines has had a dramatic impact on the health of children. Although unconjugated polysaccharides are poorly immunogenic in infants and some older children and adults, their covalent coupling with proteins stimulates T cell dependent antig...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.88.5.375
更新日期:2003-05-01 00:00:00
abstract::Preterm infants with symptomatic patent ductus arteriosus had considerably raised plasma concentrations of atrial natriuretic peptide. Surgical ligation of the patent ductus arteriosus was associated with an immediate fall in plasma atrial natriuretic peptide concentration. Thus left to right shunting and left atrial ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.11.1165
更新日期:1987-11-01 00:00:00
abstract:AIM:To examine evolution of the physical characteristics of Marfan's syndrome throughout childhood. METHODS:40 children were ascertained during the development of a regional register for Marfan's syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.76.1.41
更新日期:1997-01-01 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::In 10 children with cystic fibrosis and persisting steatorrhoea, supplementation with taurine (30-40 mg/kg/day) was given for two months as an adjunct to the usual pancreatic enzyme treatment. A three day fat and energy balance was performed in patients with cystic fibrosis, before and after the supplementation, and i...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.9.1082
更新日期:1992-09-01 00:00:00
abstract::Data from the Glasgow Register of Congenital Malformations were used to investigate the epidemiology of congenital facial clefts over the period 1974-85. Facial clefts were registered in 247 infants representing a prevalence of 1.56 per 1000 total births. Cleft palate was more common than cleft lip, with cleft lip and...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.7.717
更新日期:1987-07-01 00:00:00
abstract::We studied 91 offspring of ABO incompatible preganacies and 30 controls resulting from O--O pregnancies to test whether cord bilirubin levels could be used to predict the severity of hyperbilirubinaemia in ABO incompatibility. Blood group, direct Coombs's test, and serum bilirubin estimations were carried out on cord ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.3.219
更新日期:1977-03-01 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:OBJECTIVE:To examine the policy, administration, and supervision of medicine administration in primary schools within the Greater London area (GLA). DESIGN:A prospective survey using postal questionnaires sent to 172 randomly selected primary schools within the GLA. PARTICIPANTS:Head teachers of primary schools. RES...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2003.047258
更新日期:2004-11-01 00:00:00
abstract::Preductal and postductal oxygen saturation were compared in 20 ventilated preterm infants with hyaline membrane disease to establish the frequency of right to left shunting and to assess the accuracy of postductus arteriosus blood gas sampling. One hundred and thirty eight comparisons were made and the frequency of ri...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.10_spec_no.1166
更新日期:1992-10-01 00:00:00
abstract::The clinical patterns of adverse reactions to cows' milk were examined in 72 children with cows' milk hypersensitivity. Two main groups were found, according to the time of onset of the adverse reaction--immediate onset, within one hour of milk ingestion and delayed onset, after one hour. Children with immediate onset...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.11.856
更新日期:1983-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to investigate the views of young people (YP) with gender dysphoria and their parents concerning fertility preservation and reproductive and life priorities. DESIGN:A cross-sectional questionnaire-based study assessed knowledge of potential effects of treatments for gender dysphoria...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2018-316080
更新日期:2019-08-01 00:00:00
abstract::When children are considered for participation in research, British and international guidelines suggest that they should provide assent in addition to their parents' consent. However, examination of these guidelines shows there is confusion regarding the concept of assent. Furthermore, the need for assent may cause p...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2011.211342
更新日期:2011-10-01 00:00:00