Abstract:
:The term Ehlers-Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Sobey Gdoi
10.1136/archdischild-2013-304822subject
Has Abstractpub_date
2015-01-01 00:00:00pages
57-61issue
1eissn
0003-9888issn
1468-2044pii
archdischild-2013-304822journal_volume
100pub_type
杂志文章,评审abstract::Recombinant human erythropoietin (r-HuEpo) is now available to correct the anaemia of end stage renal failure. The clinical consequences of increasing the haemoglobin concentration in children on dialysis are incompletely documented; a placebo controlled study is essential when assessing subjective changes, for exampl...
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.69.5.580
更新日期:1993-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the impact of childhood atopic eczema on families and assess the personal financial cost of its management. DESIGN:Cross sectional survey. SETTING:Paediatric dermatology and paediatric diabetology outpatient clinics. PATIENTS:Parents of 48 randomly selected children with atopic eczema and 46 wi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.76.2.159
更新日期:1997-02-01 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
abstract:OBJECTIVE:To study the relation between traumatic birth and the development of permanent facial palsy in the newborn. DESIGN:Retrospective case control study of children with 'congenital' facial palsy. SETTING:Two tertiary referral centres for patients with facial palsy. SUBJECTS:61 children with established facial ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.74.1.56
更新日期:1996-01-01 00:00:00
abstract::The aim of the study was to investigate the effect of a protein restricted diet on renal function and growth of children with chronic renal failure. In a multicentre prospective study 56 children (aged 2-18 years) with chronic renal failure were randomly assigned to the protein restricted (0.8-1.1 g/kg/day) or the con...
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.68.3.371
更新日期:1993-03-01 00:00:00
abstract::Ninety one patients with urinary tract abnormalities diagnosed before birth were reviewed. Diagnoses based on prenatal and postnatal ultrasound scans alone were compared with the final diagnoses after full urological investigations, with operative or necropsy confirmation in 79 cases. The results confirmed that ultras...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.4.578
更新日期:1989-04-01 00:00:00
abstract:OBJECTIVE:Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic mul...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-314409
更新日期:2018-10-01 00:00:00
abstract:OBJECTIVES:Describe cases of female genital mutilation (FGM) presenting to consultant paediatricians and sexual assault referral centres (SARCs), including demographics, medical symptoms, examination findings and outcome. DESIGN:The well-established epidemiological surveillance study performed through the British Paed...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2020-319569
更新日期:2020-10-06 00:00:00
abstract::The association of weight for height and triceps skinfold with seven respiratory symptoms has been examined using logistic regression analysis in 7800 5 to 11 year old children (6200 in England and 1600 in Scotland). The results support the view that overweight children have a greater liability to some respiratory sym...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.10.940
更新日期:1984-10-01 00:00:00
abstract::The relation between intraventricular haemorrhage (IVH) and hyaline membrane disease (HMD) was studied in singletons that came to necropsy at Hammersmith Hospital over the years 1966-73. The incidence of IVH in singleton live births was 3-22/1000 and of HMD 4-44/1000. Although the high figures were partily due to the ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.10.755
更新日期:1976-10-01 00:00:00
abstract::The National Grid is a training scheme that represents a unique partnership between Deaneries and the Royal College of Paediatrics and Child Health (RCPCH) in offering through national competition, equitable access to high quality subspecialty training. Paediatrics is unusual in that within the umbrella Certificate of...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2004.066688
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVES:To assess uptake of community-based capillary thyroid stimulating hormone (TSH) screening in Scotland and determine the optimal frequency of screening, the justification for preschool screening and strategies for treatment. METHODS:Subjects with Down's syndrome aged 1-19 years underwent capillary TSH measur...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2011-300124
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVE:Infections with multidrug-resistant organisms (MDROs) such as Gram-negative bacteria have high morbidity and mortality with limited treatment options. Colistin, an antibiotic active against MDRO, was rarely used due to frequent adverse effects, but its use has now been recommended among adults. In this study,...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-318067
更新日期:2020-09-01 00:00:00
abstract::The variability of cerebral blood flow velocity was measured in 20 very low birthweight infants. The area under the curve of the Doppler frequency spectrum was used and was obtained from the anterior cerebral artery in the infants before and after infusions of plasma or dopamine. Both interventions significantly reduc...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.7_spec_no.897
更新日期:1989-07-01 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:BACKGROUND:Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases. Several factors influence nutrition in children with A-T. We hypothesised that children with A-T have progressive grow...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2015-310373
更新日期:2016-12-01 00:00:00
abstract::Interleukin-2 (IL-2) and T cell subpopulations were evaluated in children with rheumatic heart disease (RHD). Three groups were included: 13 patients with active RHD, 12 with non-active RHD, and 14 control children. Serum IL-2 and T cell subpopulations were measured by radioimmunoassay and monoclonal antibodies respec...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.11.1373
更新日期:1992-11-01 00:00:00
abstract::The validation of measurement of cerebral blood volume (CBV) and cerebral blood flow (CBF) using near infrared spectroscopy (NIRS) against jugular venous occlusion plethysmography is described. Repeated measurements in six infants were made using both techniques simultaneously. A close relationship between the two mea...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.67.4_spec_no.407
更新日期:1992-04-01 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: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::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
abstract::Over a three year period 444 requests for the neonatal transfer of babies with acute medical problems were received at this regional neonatal medical unit. Despite an increase in available resources in the North Western Health Region the provision of intensive care remained inadequate with 38% of requests declined, an...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.4.403
更新日期:1988-04-01 00:00:00
abstract::Recent studies of Guillain-Barré syndrome in adults have shown that the requirement for assisted ventilation correlates closely with a poor outcome, and the need for ventilation is now being used as an indication for plasmapheresis. As comparable studies in children have not been performed we reviewed our experience o...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.3.288
更新日期:1987-03-01 00:00:00
abstract::Forty six of 142 infants weighing less than 1500 g at birth, who had chest radiographs in the first 5 days of life, developed pulmonary interstitial emphysema (PIE) and in 19 this occurred in the first 24 hours. PIE was seen more frequently in infants weighing less than 1000 g at birth (24 of 57) than in those weighin...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.8.612
更新日期:1983-08-01 00:00:00
abstract::An 11 year old girl developed progressive upper gastrointestinal ulceration and recurrent episodes of intravenous catheter associated polymicrobial septicaemia. Evaluation failed to establish a cause. After exclusion of the parents and careful surveillance of the patient she improved, supporting the diagnosis of suspe...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.9.903
更新日期:1986-09-01 00:00:00
abstract:OBJECTIVE:To determine if exploratory factor analysis can identify subtypes comprising recognisable clinical patterns of the presenting signs and symptoms of children with joint hypermobility syndrome (JHS). PATIENTS:Eighty-nine children with JHS aged 6-16 years. METHODS:Twelve tests comprising anthropometric, muscul...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305304
更新日期:2015-01-01 00:00:00
abstract::The zinc content of peripheral blood leucocytes from the cord blood of 63 normal and 20 preterm babies, and of 27 babies with evidence of idiopathic intrauterine growth retardation (IUGR) was measured. Leucocyte zinc depletion was present in babies with acute IUGR (IUGR babies compared with controls, mean 47.8 v 51.5 ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.10.807
更新日期:1983-10-01 00:00:00
abstract:OBJECTIVE:In a national study of Australian children aged 11-12 years old, we examined the (1) prevalence and characteristics of hearing loss, (2) its demographic risk factors and (3) evidence for secular increases since 1990. METHODS:This is a cross-sectional CheckPoint wave within the Longitudinal Study of Australia...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2017-313505
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:To determine the utility of a novel Paediatric Consultation Assessment Tool (PCAT). DESIGN:Developed to measure clinicians' communication behaviour with children and their parents/guardian, PCAT was designed according to consensus guidelines and refined at a number of stages. Volunteer clinicians provided vi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2008.146191
更新日期:2010-05-01 00:00:00
abstract::A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nos...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.2.135
更新日期:1979-02-01 00:00:00