Abstract:
OBJECTIVE:To define better the adult phenotype and natural history of Noonan syndrome. DESIGN:A prospective observational study of a large cohort. RESULTS:Data are presented for 112 individuals with Noonan syndrome (mean age 25.3 (range 12-71) years), who were followed up for a mean of 12.02 years. Mutations in PTPN11 were identified in 35% of probands. Ten subjects died during the study interval; three of these deaths were secondary to heart failure associated with hypertrophic cardiomyopathy. Pulmonary stenosis affected 73 (65%) subjects; 42 (58%) required no intervention, nine underwent balloon pulmonary valvuloplasty (three requiring further intervention) and 22 surgical valvuloplasty (three requiring further intervention). Hypertrophic cardiomyopathy affected 21 (19%) patients, which had remitted in two cases, but one subject required cardiac transplant. No subjects died suddenly or had symptoms suggestive of arrhythmia. The mean final adult height was 167.4 cm in males and 152.7 cm in females. Feeding problems in infancy were identified as a predictor of future outcome. The mean age of speaking in two-word phrases was 26 months for those with no feeding difficulties, compared with 39 months for those with severe problems requiring nasogastric feeding. Attendance at a school for children with special needs for the same groups was 12.5% and 58%, respectively. A statement of special educational need had been issued in 44% overall; however, academic achievement was broadly similar to that of the general population. IMPLICATIONS:Although the morbidity for some patients with Noonan syndrome is low, early predictors of poorer outcome have been identified, which will help ascertain those most in need of intervention.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Shaw AC,Kalidas K,Crosby AH,Jeffery S,Patton MAdoi
10.1136/adc.2006.104547subject
Has Abstractpub_date
2007-02-01 00:00:00pages
128-32issue
2eissn
0003-9888issn
1468-2044pii
adc.2006.104547journal_volume
92pub_type
杂志文章abstract::Clinical, radiological, and genetic features are described in 3 patients with hypochondroplasia. Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia. Radiological confirmation is possible provided a full skelet...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.11.868
更新日期:1978-11-01 00:00:00
abstract::When isolated from the female genital tract, diphtheroids are usually regarded as commensal organisms. Corynebacterium kutscheri however is a pathogen in laboratory rodents. We report a case in which C. kutscheri was isolated as a pure culture from the umbilical cord and from other surface sites in an infant. Histolog...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.9.710
更新日期:1979-09-01 00:00:00
abstract:AIM:To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome. METHODS:21 boys under 17 years of age with a confirmed clinical diagnosis of Aarskog syndrome were assessed using the Griffiths mental development scales and the British ability scales. RESULTS:IQ ranged...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.79.4.359
更新日期:1998-10-01 00:00:00
abstract:AIMS:To characterise prescribing patterns of antidepressants (ATDs) to children and adolescents aged < or =18 years in the UK. METHODS:Subjects issued at least one ATD prescription between 1 January 1992 and 31 December 2001 were identified from the UK General Practice Research Database. Prescribing patterns, annual p...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2004.064956
更新日期:2004-12-01 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::Mechanisms of gastro-oesophageal reflux were studied by oesophageal manometry and pH monitoring in 33 children: nine controls, 15 with gastro-oesophageal reflux alone, and nine with reflux oesophagitis. A total of 122 episodes of reflux were analysed in detail: 82 (67%) were synchronous with swallowing and 40 (33%) as...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.11.1333
更新日期:1988-11-01 00:00:00
abstract::A CAUSAL ASSOCIATION BETWEEN MEASLES: mumps-rubella (MMR) vaccine and idiopathic thrombocytopenic purpura (ITP) was confirmed using immunisation/hospital admission record linkage. The absolute risk within six weeks of immunisation was 1 in 22 300 doses, with two of every three cases occurring in the six week post-immu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.84.3.227
更新日期:2001-03-01 00:00:00
abstract::Mortality before surgery must be taken into account when comparing the surgical mortality of atrial redirection procedures (Mustard's or Senning's operation) and the arterial switch operation for patients with complete transposition. This is because the switch operation is usually performed within the neonatal period ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.6.549
更新日期:1987-06-01 00:00:00
abstract:OBJECTIVE:The value of comparative effectiveness trials in informing clinical and policy decisions depends heavily on the choice of control arm (comparator). Our objective is to identify challenges in comparator reasoning and to determine justification criteria for selecting a control arm in paediatric clinical trials....
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2016-310644
更新日期:2016-10-01 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:UNLABELLED:One hundred and seventy three children, including 93 with biliary atresia, received liver grafts at Addenbrooke's Hospital between 1983 and 1993. Of these, only seven developed cyanosis due to intrapulmonary shunting as a complication of their liver disease, and all seven of these had the biliary atresia/pol...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.70.6.501
更新日期:1994-06-01 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::Adrenal cortical carcinoma in a 4 1/4-month-old girl was treated by surgery in combination with actinomycin D, cyclophosphamide, and 5-fluorouracil given daily for 5 days every third week for 13 1/2 months. Postoperative hypertension and raised 24-hour 17-hydroxy- and 21-oxosteroids suggested residual microscopical tu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.4.342
更新日期:1978-04-01 00:00:00
abstract::Syncope in childhood is very common. The vast majority of episodes are benign, and are due to neurocardiogenic syncope. Only a minority are due to something potentially more serious or life threatening. The diagnosis and differentiation of benign from more serious causes of syncope is made primarily by the history. In...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.88.4.350
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVES:To assess the potential effect of two guideline discharge oxygen saturation (SpO(2)) recommendations (≥90% and ≥94%) in recovering bronchiolitis. METHODS AND PATIENTS:Infants aged up to 18 months requiring therapeutic oxygen for SpO(2) (≤93%) had SpO(2) assessed in air every 2 h. Time from admission to re-e...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2010.205211
更新日期:2012-04-01 00:00:00
abstract::Because the incidence of both neonatal respiratory distress syndrome and neonatal mortality can be reduced by giving corticosteroids to women expected to deliver preterm and by giving surfactant to babies at high risk of developing hyaline membrane disease, we have considered what effects the adoption of one or both o...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.7_spec_no.757
更新日期:1991-07-01 00:00:00
abstract::The role of budesonide in controlling chest symptoms in infants was assessed. It was administered from a metered dose inhaler into a large volume spacer (Nebuhaler) with attached Laerdal mask. Twenty nine infants were recruited into a double blind crossover trial. Five defaulted. The remaining 24 (mean age 11 months) ...
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.67.3.285
更新日期:1992-03-01 00:00:00
abstract::Two neonates with severe culture proven pertussis were successfully treated with salbutamol 0.5 mg three times daily. There was a demonstrable decrease in the total number of coughing spasms, their mean duration and severity. In one baby this was shown by the transcutaneous oxygen tension measurements. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.6.600
更新日期:1986-06-01 00:00:00
abstract:OBJECTIVE:To assess height and body mass index standard deviation scores up to 20 years after treatment for acute lymphoblastic leukaemia (ALL). SUBJECTS AND METHODS:Height and body mass index standard deviation scores were measured in 33 patients (14 boys and 19 girls) with childhood ALL at diagnosis, after the end o...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.79.2.161
更新日期:1998-08-01 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::A four year regional screening programme to detect cystic fibrosis using measurement of immunoreactive trypsinogen is described. During this period 60 infants were diagnosed; 34 by screening, 12 born with meconium ileus, and 14 not identified by the screening assay but who presented with clinical symptoms at a later a...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.12.1438
更新日期:1988-12-01 00:00:00
abstract::A 9 year old girl presenting with multiple glomus tumours is reported. Multiple glomus tumours are rare, often asymptomatic lesions, with a familial tendency and found in a more proximal location than their solitary counterparts. In our report four close relatives had similar lesions. Indications for surgical excision...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.8.801
更新日期:1986-08-01 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::We report two children with ruptured, multiple hydatid cysts treated with mebendazole. Long term follow up has confirmed the success of this treatment. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.59.9.894
更新日期:1984-09-01 00:00:00
abstract:AIM:Assessment of the efficacy of vitamin D replenishment and maintenance doses required to attain optimal levels in boys with Duchenne muscular dystrophy (DMD). METHOD:25(OH)-vitamin D levels and concurrent vitamin D dosage were collected from retrospective case-note review of boys with DMD at the Dubowitz Neuromuscu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2015-308825
更新日期:2016-10-01 00:00:00
abstract::The serum concentrations of tri-iodothyronine (T3), thyroxine (T4), and thyrotrophin (TSH) were measured in 10 term newborn infants between birth and the age of 2 days by radioimmunoassay. The mean concentration of T3 in maternal serum was 1.62 mug/l, and it increased from the low cord blood level of 0-63 mug/l to the...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.50.7.565
更新日期:1975-07-01 00:00:00
abstract:AIM:To reduce the overall expenditure on melatonin for the local health economy by working collaboratively with the CCG's. To ensure that all paediatric patients prescribed melatonin have been clinically assessed by a specialist and the most appropriate formulation is dispensed. METHOD:Evaluation of GP melatonin presc...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2016-311535.49
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVE:To assess the benefit of nebulised amiloride added to the standard inpatient treatment of a respiratory exacerbation in cystic fibrosis. DESIGN:Prospective, randomised, double blind, placebo controlled trial. SUBJECTS:27 cystic fibrosis patients (mean age 12.8 years). SETTING:Two hospitals in Leeds, UK. R...
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.73.5.427
更新日期:1995-11-01 00:00:00
abstract::The British (Tanner and Whitehouse) and American (National Center for Health Statistics, NCHS) growth standards are widely used internationally, although the data are now over 30 years old. Routine weight data was retrieved from the child health records of a complete annual cohort of 3418 children aged 18-30 months to...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.69.4.420
更新日期:1993-10-01 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