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 deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome; 22q11 is a candidate region for a gene defective in Noonan's syndrome.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Wilson DI,Britton SB,McKeown C,Kelly D,Cross IE,Strobel S,Scambler PJdoi
10.1136/adc.68.2.187subject
Has Abstractpub_date
1993-02-01 00:00:00pages
187-9issue
2eissn
0003-9888issn
1468-2044journal_volume
68pub_type
杂志文章abstract::Seventy three preterm infants weighing less than 1500 g or less than 32 weeks' gestation, or both, were allocated randomly to treatment (fresh frozen plasma 10 ml/kg on admission and at 24 hours of age) or control groups. Fifteen (41%) out of 37 control patients sustained intraventricular haemorrhage compared with fiv...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/adc.60.8.710
更新日期:1985-08-01 00:00:00
abstract::Total DNA was estimated in the lungs of 80 fetuses and newborn infants varying in gestation from 14 weeks to term. In fetuses of appropriate weight for gestational age total lung DNA increased at a constant rate from about 35 mg at 17 weeks' gestation to 480 mg at term. The lungs of immature fetuses were heavier and c...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.8.601
更新日期:1981-08-01 00:00:00
abstract::Cholelithiasis is considered uncommon in infancy, childhood, and adolescence. We performed a prospective, controlled study showing that children with Down's syndrome have a significantly higher prevalence of cholelithiasis (4.7%) compared with controls (0.2%). Clinicians should be aware of the risk of gallstones in ch...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.85.3.242
更新日期:2001-09-01 00:00:00
abstract::Dubowitz et al. have offered a scoring system for estimating the gestational age of newborn babies. If the system is applied to twin pairs, the heavier twin is generally estimated to have a greater gestational age than the lighter one. Previously this has been interpreted as a flaw in the scoring system. However, it m...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.55.4.281
更新日期:1980-04-01 00:00:00
abstract:AIMS:To investigate how parents report children's respiratory sounds on video compared to a clinical "gold standard". METHODS:Five clinicians agreed on 10 video clips of children with audible breathing. These responses were the "gold standard". The clips were shown to parents of children: (a) with asthma/wheeze; (b) w...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.84.1.31
更新日期:2001-01-01 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:OBJECTIVE:To evaluate genetic disease among children referred to a community paediatric clinic. DESIGN:Retrospective cohort study. SETTING:Community paediatric clinic, Tower Hamlets, London. PATIENTS:All patients seen for first time in the Child Development Team (CDT) clinic between 1999 and 2013. INTERVENTIONS:Cli...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-312739
更新日期:2017-11-01 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::This paper reviews the diagnostic features of cluster headache-like disorder and describes its presentation in childhood. Case note summaries of patients with this condition are presented in the context of a brief summary of the literature. Four patients (two girls; aged 12 to 15 years) with cluster headache-like diso...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.81.6.511
更新日期:1999-12-01 00:00:00
abstract:AIMS:To obtain information about the health and well being of 108 boys six years after their involvement with the same paedophile. METHODS:Case-control study of the health records of 93 male victims of a major episode of school based child sexual abuse and 93 matched controls. Interviews with a sample of their general...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.86.3.164
更新日期:2002-03-01 00:00:00
abstract::Thirty preterm infants (birthweight under 1500 g) were treated with phenobarbitone to examine its effectiveness in reducing the incidence of intraventricular haemorrhage (IVH), the control group comprising 28 infants. The treated group had 57% incidence of IVH and mortality of 13% compared with 68% and 14%, respective...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/adc.61.2.196
更新日期:1986-02-01 00:00:00
abstract::The discovery of testicles in a 3-year-old girl with XY karyotype led to a diagnosis of testicular feminization. Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. Diagnosis of tes...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.9.721
更新日期:1976-09-01 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::Bilateral staghorn renal calculi in a 7-year-old girl with cystinuria were dissolved over a period of 6 months, using a high fluid intake, urinary alkalinisation, and D-penicillamine. Even in children with extensive cystine urolithiasis, medical management may avert the need for surgery. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.10.795
更新日期:1979-10-01 00:00:00
abstract::We report a child with Down's syndrome in whom metrorrhagia and precocious puberty revealed primary autoimmune hypothyroidism. The patient had a decreased growth velocity, exaggerated weight gain, bone age delay, and bilaterally enlarged multicystic ovaries. Delays in the diagnosis and treatment of hypothyroidism can ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.88.4.330
更新日期:2003-04-01 00:00:00
abstract::The foot length, occipito-frontal head circumference (OFC), crown-rump, and crown-heel length (CHL) of 123 neonates of gestational ages 26-42 weeks, were measured between 12 hours and 5 days. A gauge, designed and constructed at St Mary's Hospital, Manchester, was used to measure foot length. In term babies (37-42 wee...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.3.226
更新日期:1979-03-01 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::The USA has a long-standing paediatric influenza vaccination programme, including use of live attenuated influenza vaccine (LAIV). Following US evidence of apparent lack of vaccine effectiveness (VE) of LAIV in 2015/2016, particularly against A(H1N1)pdm09, the USA suspended the use of LAIV in the 2016/2017 season. The...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2016-312165
更新日期:2018-01-01 00:00:00
abstract::Thirty nine infants with severe asphyxia (28 affected perinatally and 11 later) were studied by electrophysiological cerebral function monitoring (CFM) for periods varying from a half to 49 days. Nineteen infants died while still in intensive care and two died later from sequelae. Eighteen survived and were followed u...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.12.997
更新日期:1983-12-01 00:00:00
abstract::Imaging has many uses, but in cases of suspected child abuse, radiographs and CT scans are vital in identifying fractures and head injury that may not be clinically obvious. There are growing concerns about the small but potential adverse effects of radiation, including cancer, in the paediatric population as a result...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2015-308418
更新日期:2015-12-01 00:00:00
abstract:BACKGROUND:Perinatal stress is thought to underlie the Barker sequelae of low birth weight, of which precocious pubarche may be a manifestation. AIMS:To explore whether prematurity as well as smallness for gestational age (SGA) predisposes to precocious pubarche, and the potential role of excess weight gain during chi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2004.053959
更新日期:2005-03-01 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::All 212 neonates undergoing cardiac surgery at this hospital during the 5-year period from 1976 to 1980 inclusive were reviewed. Forty required open heart surgery with 23 (57%) deaths. One hundred and seventy-four neonates underwent non-bypass procedures and could be divided into three groups: group 1 (82 patients) ha...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.2.137
更新日期:1983-02-01 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::Anomalies of the bronchial cilia were studied in 5 children with recurrent pulmonary infections. Case 1 had Kartagener's syndrome and an absence of the inner and outer dynein arms in most cilia, although a few shortened and even some normal arms could be seen. Cases 2 and 3 had unilateral bronchiectasis without family...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.12.929
更新日期:1981-12-01 00:00:00
abstract::Two cross sectional surveys, 24 years apart, using the same respiratory questionnaire, were carried out to examine changes in prevalence rates of cough, phlegm, and wheeze and to relate changes in wheeze to objective peak expiratory flow rates (PEFRs). The surveys were done in towns in southern and northern England an...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.68.6.729
更新日期:1993-06-01 00:00:00
abstract:OBJECTIVES:Children's exposure to racism via caregiver experience (vicarious racism) is associated with poorer health and development. However, the relationship with child healthcare utilisation is unknown. We aimed to investigate (1) the prevalence of vicarious racism by child ethnicity; (2) the association between ca...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-313866
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVE:To examine the value of neurodevelopmental examination, fragile X testing, iron studies, and other screening procedures in children with mild to moderate learning difficulties. DESIGN:A cross sectional case-control study. SUBJECTS:A 34% random sample (n = 130) of children with mild to moderate learning diff...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.76.3.264
更新日期:1997-03-01 00:00:00
abstract::1 case study and a clinical study with laboratory rats examined the question of breast milk jaundice. The case study confirmed clinical diagnosis of breast milk jaundice. The clinical study compared the effects of breast milk and 3alpha, 20beta-pregnanediol on the conjugation of bilirubin and o-aminophenol by rat li...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.46.246.195
更新日期:1971-04-01 00:00:00
abstract:AIM:To determine the frequency of use of complementary treatment and measure its impact on clinical outcomes in a hospitalised general paediatric population. METHODS:A population based random sample of children admitted to the general paediatric service at a metropolitan children's hospital in Auckland, New Zealand fr...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.81.2.133
更新日期:1999-08-01 00:00:00