Abstract:
INTRODUCTION:Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by a mutation of the WAS protein gene. This protein actively participates in important cellular processes, and its presence is related to diverse clinical manifestations, including cutaneous alterations. The classical triad of WAS consists of recurrent infections, thrombocytopaenia with small platelets and atopic dermatitis (AD)-like lesions. OBJECTIVE:To evaluate the frequencies of cutaneous manifestations in patients with WAS prior to haematopoietic stem cell transplantation (HSCT). RESULTS:Twenty-four boys diagnosed with WAS and treated with HSCT between 1992 and 2007 were included. The characteristic triad of WAS occurred in 46% of patients. Before HSCT, the most frequent cutaneous manifestations included eczema similar to AD (71%), followed by petechiae and/or ecchymosis (58%) and cutaneous infections (17%). CONCLUSIONS:Cutaneous manifestations in patients with WAS are frequent, especially those similar to the eczema found in AD.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Loyola Presa JG,de Carvalho VO,Morrisey LR,Bonfim CM,Abagge KT,Vasselai A,Marinoni LPdoi
10.1136/archdischild-2011-300812subject
Has Abstractpub_date
2013-04-01 00:00:00pages
304-7issue
4eissn
0003-9888issn
1468-2044pii
archdischild-2011-300812journal_volume
98pub_type
杂志文章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:Cochlear implantation in one ear (unilateral implantation) has been the standard treatment for severe-profound childhood deafness. We assessed whether cochlear implantation in both ears (bilateral implantation) is associated with better listening skills, higher health-related quality of life (health utility) ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.160325
更新日期:2010-02-01 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::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: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:BACKGROUND:Our current understanding regarding the aetiology of infantile acute liver failure largely derives from studies conducted by regional liver units. This may introduce selection bias and therefore not provide a true reflection of the wider population. METHODS:Every coagulation screen with a prothrombin time ≥...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-317360
更新日期:2020-08-01 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:AIMS:To determine whether the British 1990 growth charts are valid for cross sectional and longitudinal use in primary school children. METHODS:A total of 694 children aged 7-10 years from 10 Leeds primary schools were weighed and measured annually over three years by an expert auxologist. SD scores were calculated us...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.83.4.298
更新日期:2000-10-01 00:00:00
abstract:STUDY OBJECTIVES:To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. PATIENTS:Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form. RESULTS:Mutations located...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2009.171553
更新日期:2010-06-01 00:00:00
abstract::Twenty-one babies of 34-41 weeks' gestational age with birth asphyxia (5 minute Apgar score less than or equal to 5 or umbilical artery pH less than or equal to 7.2) were studied during the first two days of life to find out whether the urinary excretion of tubular markers of renal function is of value in the early di...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.10_spec_no.1021
更新日期:1990-10-01 00:00:00
abstract:OBJECTIVE:To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations. DESIGN:Retrospective case note review. SETTING:Community, neurodisability and neurology department at a UK tertiary centre. PARTICIPANTS:Child...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-312843
更新日期:2017-11-01 00:00:00
abstract::Four preterm infants of very low birthweight (less than 1500 g) developed signs of copper deficiency between age 8 and 10 weeks. All had required prolonged ventilatory support, parenteral nutrition, and nasojejunal feeding. The clinical features, which included osteoporosis, oedema, anaemia, neutropenia, and late apno...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.7.644
更新日期:1985-07-01 00:00:00
abstract::36 parents of infants who had died suddenly did not differ in frequency of atopic symptoms, immediate skin tests, IgE, IgE antibody, immunoglobulin G, A, and M, or yeast opsonisation, from 36 matched controls, although atopy was common (about half had atopy in both groups. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.55.11.876
更新日期:1980-11-01 00:00:00
abstract::Seventy six children, 18 boys and 58 girls, aged 0-15.9 (median 1.0) years, with acute pyelonephritis were prospectively studied with a technetium-99m dimercaptosuccinic acid (DMSA) scan during infection and two months later. Fifty nine of these children were also studied two years after the infection. Seventeen child...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.70.2.111
更新日期:1994-02-01 00:00:00
abstract::Flow velocities in the basal cerebral arteries were studied by transcranial Doppler sonography. A longitudinal study was undertaken on 25 healthy newborn babies during the first 20 days of life, and a cross sectional study was performed on 112 healthy children between 1 day and 18 years of age. A rapid linear increase...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.6.606
更新日期:1988-06-01 00:00:00
abstract:AIMS:To explore the clinical course of children with "single kidney" (defined as either a solitary or single functioning kidney) with reference to renal function (glomerular filtration rate (GFR) and proteinuria), body height and particularly sonomorphological features. PATIENTS AND METHODS:This retrospective monocent...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2008.153601
更新日期:2009-09-01 00:00:00
abstract::Fifty four of 74 paediatricians in the West Midlands (43 general medical, 11 subspecialist) replied to a postal questionnaire about their outpatient practice: 37 timed each consultation in one clinic. On average, subspecialty consultations lasted 37 minutes for new patients and 29 minutes for review. In general clinic...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.2.206
更新日期:1992-02-01 00:00:00
abstract:AIMS:To describe the clinical features, diagnosis and management of children with tuberculosis in the United Kingdom and Republic of Ireland. METHODS:Cases of culture-confirmed and clinically diagnosed tuberculosis were reported to the British Paediatric Surveillance Unit from December 2003 to January 2005. RESULTS:3...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2007.133645
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND:Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed. OBJECTIVE:To investigate the diagnosis and outcome of MCAD deficiency in the UK. METHO...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.79.2.116
更新日期:1998-08-01 00:00:00
abstract:OBJECTIVE:To examine whether behavioural or cognitive sequelae of otitis media with effusion (OME) continue into late childhood and the early teens (11-18 years). SETTING:Data from a large multipurpose birth cohort study: the Dunedin multidisciplinary health and development study. PARTICIPANTS:Around 1000 children fr...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.85.2.91
更新日期:2001-08-01 00:00:00
abstract:AIMS:To determine the accuracy of a low cost, spring calibrated, hand held scale in classifying newborns into three weight categories (> or =2500 g, 2000-2499 g, <2000 g). METHODS:The test device was compared to a gold standard digital baby scale with precision to 2 g. In Sarlahi district, Nepal, 1890 newborns were el...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2005.088781
更新日期:2006-05-01 00:00:00
abstract::The response of desamino-D-arginine vasopressin (DDAVP) was investigated in 32 enuretic children in a double-blind clinical study. The 15 children treated with DDAVP showed a significant reduction in the incidence of bed wetting--from 18.7 +/- 6.5 to 6.5 +/- 9.2 wet nights per 30 days. In 6 children bed wetting stoppe...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.57.2.137
更新日期:1982-02-01 00:00:00
abstract:BACKGROUND:There are few data on the optimal micronutrient composition of paediatric enteral feeds. The recent European Directive on Foods for Special Medical Purposes (1999/21/EC) did not distinguish between the composition of adult and paediatric feeds. AIMS:To evaluate, in an open, observational study, the long ter...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.86.6.411
更新日期:2002-06-01 00:00:00
abstract::A recent decision of the European Court of Human Rights (ECtHR) raises issues of considerable importance to medical practitioners and paediatricians in particular. The case concerns the parental right to withhold consent to medical intervention that doctors believe to be necessary in a child's best interests. The dram...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2004.070672
更新日期:2005-08-01 00:00:00
abstract::Four patients with salt-losing congenital adrenal hyperplasia (CAH) who had stopped mineralocorticoid therapy for several years, showed raised plasma concentrations of 17OH-progesterone and plasma renin activity, despite adequate glucoticoid therapy. One patient was able to reduce urinary sodium excretion when the sod...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.5.350
更新日期:1979-05-01 00:00:00
abstract:OBJECTIVE:To determine risk factors for childhood overweight that can be identified during the first year of life to facilitate early identification and targeted intervention. DESIGN:Systematic review and meta-analysis. SEARCH STRATEGY:Electronic database search of MEDLINE, EMBASE, PubMed and CAB Abstracts. ELIGIBIL...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,meta分析,评审
doi:10.1136/archdischild-2012-302263
更新日期:2012-12-01 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:OBJECTIVE:To provide the first estimate of the cost-effectiveness of financial incentive for breastfeeding intervention compared with usual care. DESIGN:Within-cluster ('ward'-level) randomised controlled trial cost-effectiveness analysis (trial registration number ISRCTN44898617). SETTING:Five local authority distri...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/archdischild-2018-316741
更新日期:2020-02-01 00:00:00
abstract:AIM:To evaluate the quality of paediatric audits from 1966 to 1999. METHODS:A Medline search was performed using the MeSH terms audit, child, paediatric (and pediatric). Predefined core elements of audit were used as inclusion criteria for entry of an article into this study. These criteria were as follows: (1) an art...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2004.071381
更新日期:2007-04-01 00:00:00
abstract::Chromatographic analysis of sugars in the stools of 40 normal newborn infants has shown the presence of an oligosaccharide in 85% of samples. The oligosaccharide has been shown to contain fucose (6-deoxygalactose), glucose, and galactose and is present in normal breast milk. In addition fucose has also been found in t...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.11.913
更新日期:1978-11-01 00:00:00