Abstract:
:The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously reported subject who had severe genital ambiguity and partial androgen insensitivity were investigated. Neither of the cousins had genital abnormalities as marked as the index case, who also had qualitatively abnormal androgen binding and two mutations of the androgen receptor gene. Despite marked phenotypic differences between the index case and his cousins, similar androgen binding and the same androgen receptor mutations were shown in the cousins. Furthermore, one of the androgen receptor gene mutations has been shown in the mother and sister of one of the boys indicating that they are carriers. Thus phenotypic variation in families affected by partial androgen insensitivity is dependent on factors other than abnormalities of the androgen receptor gene alone. Although carrier status in partial androgen insensitivity can be determined, the severity of genital abnormalities in an affected offspring cannot be reliably predicted.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Batch JA,Davies HR,Evans BA,Hughes IA,Patterson MNdoi
10.1136/adc.68.4.453subject
Has Abstractpub_date
1993-04-01 00:00:00pages
453-7issue
4eissn
0003-9888issn
1468-2044journal_volume
68pub_type
杂志文章abstract::Twice daily sustained release theophylline gave satisfactory steady serum theophylline concentrations in asthmatic children aged 7 to 14 years. The children showed improvement in symptoms, less frequent waking at night, reduced use of beta agonist inhalers, and improved early morning peak flows while being treated wit...
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.59.12.1159
更新日期:1984-12-01 00:00:00
abstract::The concept of neural plasticity and the early natural abilities of hearing children to acquire speech and language without instruction have led many authorities to advocate cochlear implantation before the age of 5 years in congenital deafness. Older children therefore become lower priority for scarce public funds be...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.88.8.708
更新日期:2003-08-01 00:00:00
abstract::Sympathetic function was studied in 101 diabetic children and 102 age and sex matched control children, as part of a longitudinal study of the evolution of microvascular disease in the population of diabetic children and adolescents in Avon County. The median (range) age of the diabetic population was 13.5 (6.0-17.2) ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.6.511
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVE:To estimate the diagnostic accuracy of chest radiography in the detection of chest lymphadenopathy in children with clinically suspected pulmonary tuberculosis. METHODS: DESIGN:Prospective cross sectional study. SETTING:A short stay ward in a children's hospital in South Africa. PATIENTS:Consecutive child...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2004.062315
更新日期:2005-11-01 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::Sixteen children who had had congenital diaphragmatic herniae repaired either in the neonatal period (11), or in early childhood (5), were reviewed at between 7 and 19 years of age. Only minor abnormalities were shown in their chest x-rays and in a variety of lung function tests. This suggests that the long-term progn...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.11.902
更新日期:1977-11-01 00:00:00
abstract:BACKGROUND:The European Respiratory Society guidance on bronchoalveolar lavage (BAL) in children was published in 2000. It recommended taking one BAL specimen from the most affected lobe or from the right middle lobe in diffuse disease. In 2007, the European Respiratory Society modified the recommendations for children...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.177618
更新日期:2011-03-01 00:00:00
abstract::Hair growth measurements are a sensitive indicator of nutrition and we have assessed their value in the perinatal period. The proportion of growing roots and their diameter were studied at birth in 114 babies and repeated 3 weeks later in 29 low birthweight babies. Intrauterine malnutrition resulted in thinner roots b...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.4.290
更新日期:1978-04-01 00:00:00
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 ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2017-314558
更新日期:2018-09-01 00:00:00
abstract::There was much speculation about the potential impact of the Human Rights Act 1998 on established principles of health care practice. Now the statute has been "bedded in", predictions that existing good practice would not fall foul of the legislation provided it was demonstrable, have proved to be broadly accurate. Th...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2003.037218
更新日期:2004-05-01 00:00:00
abstract:BACKGROUND:Cerebral palsy is the commonest cause of severe physical disability in childhood. For many years treatment has centred on the use of physiotherapy and orthotics to overcome the problems of leg spasticity, which interferes with walking and can lead to limb deformity. Intramuscular botulinum toxin (BT-A) offer...
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.83.6.481
更新日期:2000-12-01 00:00:00
abstract::We describe two cases of a non-epileptic florid movement disorder presenting as status epilepticus. Both patients presented with florid jerking of the limbs and eyes. Convulsive status epilepticus related to presumed meningitis or encephalitis was suspected in both cases. The patients received treatment for seizures, ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.160044
更新日期:2009-11-01 00:00:00
abstract::Many children admitted to hospital can stay for 24 hours or less. Short stay facilities offer such children rapid stabilisation and early discharge with considerable financial saving. A 12 month study was completed in which data were collected from the children's emergency annex (CEA) at Westmead Hospital in Sydney's ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.74.4.309
更新日期:1996-04-01 00:00:00
abstract:OBJECTIVE:To study the epidemiology of pyridoxine dependent seizures and other forms of pyridoxine responsive seizures. DESIGN:Monthly notifications to the British Paediatric Surveillance Unit over two years. Questionnaire follow up. SETTING:UK and the Republic of Ireland. PATIENTS:Children aged 15 years or younger ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.81.5.431
更新日期:1999-11-01 00:00:00
abstract:AIM:To describe the nature and causes of reported patient safety incidents relating to care in the community for children dependent on long-term ventilation with the further aim of improving safety. METHODS:We undertook an analysis of patient safety incident data relating to long-term ventilation in the community usin...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-317965
更新日期:2020-05-01 00:00:00
abstract::Quantitative biochemical criteria for lung growth and maturation were compared with the histological appearances in hypoplastic lungs from 20 fetuses and newborn infants. Cases associated with oligohydramnios showed a characteristic series of changes with narrow airways, retardation of epithelial and interstitial grow...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.8.606
更新日期:1981-08-01 00:00:00
abstract::Measurements of the resistance, time constant, and compliance of the respiratory system were made in 25 mechanically ventilated, preterm babies on 32 occasions, using the single breath technique. Patients were classified according to the level of respiratory resistance by reference to a population of 36 babies studied...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.12.1178
更新日期:1986-12-01 00:00:00
abstract:OBJECTIVES:To evaluate the outcome of percutaneous transluminal angioplasty (PTA) in children with renovascular hypertension (RVH) treated at a single centre over 29 years. METHODS:A retrospective study of the medical charts of all children with RVH who underwent PTA between 1984 and 2012. The primary outcome measurem...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305886
更新日期:2015-05-01 00:00:00
abstract:OBJECTIVE:To study the temporal relationship between socioeconomic disadvantage and onset of chronic disabling conditions in childhood. METHOD:Using parent reported data from the Longitudinal Study of Australian Children, we compared children who developed a chronic disabling condition between the ages of 6/7 and 10/1...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305634
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVE:To establish the relationship between serum point-of-care (POC) ketones at triage and moderate-to-severe dehydration based on the validated Gorelick Scales. DESIGN, SETTING AND PATIENTS:Prospective unblinded study from April 2016 to February 2017 in a paediatric emergency department. Patients aged 1 month to...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-318425
更新日期:2020-12-01 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::Samples of saliva and nasal secretions were collected sequentially from 15 breast fed and 15 bottle fed infants on five occasions between 6 days and 9 months of age. Total immunoglobulin concentrations of G, M, and A classes, and class specific antibodies to tetanus toxoid and a pool of commensal strains of Escherichi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.3.263
更新日期:1986-03-01 00:00:00
abstract:AIM:To evaluate the risk factors for breakthrough varicella in a follow up study of a cohort of 181 healthy children immunised when aged 9-24 months with a reformulated Oka strain varicella vaccine (SmithKline Beecham Biologicals/Oka). DESIGN:The children were randomised in a double blind manner into one of four group...
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.79.6.478
更新日期:1998-12-01 00:00:00
abstract::Two neonates with acute infantile cerebral Gaucher's disease had prominent collodion skin. Ichthyosis has been described in some cases of metabolic lipid disorders, however, this is the first report of the association of lamellar desquamation of the newborn (collodion baby) with Gaucher's disease. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.7.854
更新日期:1988-07-01 00:00:00
abstract:BACKGROUND:Long term growth hormone (GH) treatment in children with idiopathic short stature (ISS) results in a relatively small mean gain in final height of 3-9 cm, which may not justify the cost of treatment. As it is unknown whether GH treatment during puberty adds to final height gain, we sought to improve the cost...
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.87.3.215
更新日期:2002-09-01 00:00:00
abstract::Serum IgG antibodies to teichoic acid and alpha toxin from Staphylococcus aureus were measured in 62 patients with cystic fibrosis by enzyme linked immunosorbent assays. The patients were followed up for 12-24 months in a prospective study. Raised titres were found exclusively in patients chronically colonised with S ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.9.905
更新日期:1987-09-01 00:00:00
abstract:INTRODUCTION:Fetal anticonvulsant syndrome (FACS) describes the pattern of physical and developmental problems seen in those children exposed to certain antiepileptic drugs (AEDs) in utero. The diagnosis of FACS is a clinical one and so excluding alternative diagnoses such as genetic disorders is essential. METHODS:We...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2018-316547
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To elucidate the current situation of randomised drug trials involving the paediatric population. METHODS:Systematic review of paediatric randomised controlled trials of medicinal products published in 2007. Three major databases were searched with validated search strategies; Medline, Embase and Cochrane Ce...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2009.173591
更新日期:2010-06-01 00:00:00
abstract::A 9 month old boy presented with acute respiratory distress and was found to have a left pleural effusion. The chylous nature of the effusion, multiple bony lytic lesions, and splenic cysts lead to the diagnosis of congenital lymphangiomatosis with chylothorax. Surgical intervention including pleurectomy was required ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.64.7.1058
更新日期:1989-07-01 00:00:00
abstract::Children with cystic fibrosis have variable degrees of exocrine pancreatic insufficiency which, if untreated, is the main cause of fat malabsorption. The impact of pancreatic enzyme supplementation on fat digestion was measured in 41 children with cystic fibrosis, 11 healthy controls, and five children with mucosal di...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.76.4.349
更新日期:1997-04-01 00:00:00