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 in the BRICHOS domain ('BRICHOS domain' group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain ('non-BRICHOS domain' group). The median age of onset was 3 (0-24) months. Four patients had neonatal respiratory distress, and symptom onset was associated with acute bronchiolitis in nine patients. Cough, tachypnoea and failure to thrive were initially noticed in all the children. Physical examination at presentation revealed tachypnoea (n=22), clubbing (n=1) and crackles (n=5). Low oxygen saturation (<95%) was observed in 18 patients. The predominant findings on initial high-resolution CT (HRCT) scans were basal-predominant ground-glass opacity (n=21) and cystic spaces (n=3). Bronchoalveolar lavage fluid (BALF) cell counts showed 379+/-56x10(3) cells/ml with increased neutrophil percentage (18+/-4%) independent of the mutation status. The median follow-up was 3.2 (1-18.3) years. Eighteen patients were treated by monthly methylprednisolone pulses associated with oral prednisolone (n=16), hydroxychloroquine (n=11) and/or azithromycin (n=4). Fifteen patients benefited from enteral nutrition. CONCLUSION:Initial diagnosis is based on clinical presentation, radiological features and BALF analysis, but the definitive diagnosis requires genetic analysis. Although progressive improvement was seen in most patients, the development of new therapeutic strategies with minimal side effects is needed.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Thouvenin G,Abou Taam R,Flamein F,Guillot L,Le Bourgeois M,Reix P,Fayon M,Counil F,Depontbriand U,Feldmann D,Pointe HD,de Blic J,Clement A,Epaud Rdoi
10.1136/adc.2009.171553subject
Has Abstractpub_date
2010-06-01 00:00:00pages
449-54issue
6eissn
0003-9888issn
1468-2044pii
adc.2009.171553journal_volume
95pub_type
杂志文章,多中心研究abstract::Respiratory disease is a common cause of morbidity and mortality in children with Down's syndrome (DS). Causes range from those problems common to many children with DS, such as a narrow airway or impaired immunity, to rare structural lesions, such as tracheal bronchus. Additionally, other organ systems or extrinsic f...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2013-304611
更新日期:2013-10-01 00:00:00
abstract::Standing height, sitting height, armspan, subischial leg length, head circumference, and growth hormone-insulin-like growth factor I (IGF-I) axis were determined in 86 patients with osteogenesis imperfecta. The aim of this study was to determine standing height and body proportions and their variability among osteogen...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.80.6.524
更新日期:1999-06-01 00:00:00
abstract::This study examines the relationship between medical and functional severity of disability and levels of self esteem and self concept in 79 young people with spina bifida. Greater feelings of global self worth and of self esteem in physical appearance were associated with greater severity of disability. This was only ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.73.1.48
更新日期:1995-07-01 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:BACKGROUND AND AIMS:Data on acute paediatric anaphylaxis presentations to the emergency department (ED) are limited. All allergic presentations to one Australian paediatric ED were studied to determine epidemiological, clinical, and outcome data. METHODS:Retrospective, case based study of patients under 16 years atten...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2004.069914
更新日期:2006-02-01 00:00:00
abstract:BACKGROUND:Growth hormone insufficiency (GHI) is diagnosed conventionally by short stature and slow growth, and is confirmed by diminished peak GH response to a provocation test. Insulin-like growth factor I (IGF-I) and IGF binding protein 3 (IGFBP-3) have previously been considered individually OBJECTIVE:To test the ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.80.5.443
更新日期:1999-05-01 00:00:00
abstract:OBJECTIVES:To determine long-term seroprotection after serogroup C meningococcal (MenC) vaccination at the age of 9-12 years, with or without booster vaccination at the age of 13-15 years. DESIGN:Observational cohort study; follow-on from randomised study. SETTING:Participants were recruited from English secondary sc...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/archdischild-2013-303893
更新日期:2013-09-01 00:00:00
abstract::Plasma concentration was measured after rectal and nasogastric administration of paracetamol 15 mg/kg to 28 febrile children aged between 9 days to 7 years who had undergone cardiac surgery. After equivalent doses, rectal administration in neonates and children on the first postoperative day was found to produce plasm...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.65.9.971
更新日期:1990-09-01 00:00:00
abstract::We describe a prospective study in which we investigated why children fail to get vaccinated against whooping cough, including an assessment of the attitudes of parents and professionals and the impact of different views of the contraindications. There was considerable disagreement among the professionals on the inter...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.4.382
更新日期:1986-04-01 00:00:00
abstract:OBJECTIVE:We systematically evaluated health and nutrition programmes to identify context-specific interventional packages that might help to prioritise the implementation of programmes for reducing stunting in low and middle income countries (LMICs). METHODS:Electronic databases were used to systematically review the...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2016-311050
更新日期:2017-10-01 00:00:00
abstract::Nine cases of neonatal Haemophilus influenzae septicaemia were recorded in Finland during 1985-9; incidence was 2.8/100,000 live births, and 1.6% of all cases of neonatal septicaemia. The onset of the disease was early in all cases, ranging from 0-6 hours after delivery. Seven of the infants were preterm and three die...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.4_spec_no.437
更新日期:1991-04-01 00:00:00
abstract::In acute paediatrics, overtreatment and overdiagnosis is encountered in threshold and developed countries. The reason for overtreatment may be similar in the two settings, namely the mere availability of invasive procedures, which may lead to their inappropriate use. Physiological healing processes should be integrate...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2007.124479
更新日期:2008-03-01 00:00:00
abstract:OBJECTIVE:There is a body of published research on the effectiveness of home visiting for the prevention of child maltreatment, but little in the peer reviewed literature on cost-effectiveness or value to society. The authors sought to determine the cost-effectiveness of alternative home visiting programmes to inform p...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2011-300795
更新日期:2012-09-01 00:00:00
abstract:AIM:To assess the provision of UK paediatric and adolescent diabetes services and examine changes in service delivery since 2002. METHOD:Questionnaires were sent to the lead paediatric consultant from all paediatric and adolescent diabetes services (n=205). Questions were based on National Institute for Health and Cli...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2009.176925
更新日期:2010-10-01 00:00:00
abstract::Infantile liver disease with deficiency of serum alpha1-antitrypsin is illustrated by a description of the clinical, biochemical, and pathological findings in two affected families. The simplicity of the diagnostic tests is emphasized. Review of 61 biopsies of liver from children and adolescents provided a further 3 c...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.8.584
更新日期:1976-08-01 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:AIMS:To investigate the differences in perception of quality of life between parents of chronically ill children and paediatricians at diagnosis and follow up. Quality of life was assessed using the (HUI3). METHODS:Longitudinal study (July 1999-January 2002) of 37 paediatricians and 181 parents of patients (children a...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2004.051722
更新日期:2005-05-01 00:00:00
abstract::The concentration of zinc in the hair of 219 schoolchildren aged between 10 and 11 years was measured and related to height, weight, estimates of consumption of zinc-rich foods, number of children living at home, and rank in family. None of the correlation coefficients between hair zinc and the other variables was sig...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.12.958
更新日期:1979-12-01 00:00:00
abstract:BACKGROUND:Children with type 1 diabetes should be encouraged to participate in physical activity because exercise can benefit insulin sensitivity and improve known risk factors for atherosclerosis. METHODS:Physical activity patterns of 127 children and adolescents with stable type 1 diabetes were investigated by 24 h...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2005.075283
更新日期:2005-12-01 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:OBJECTIVE:To review the work of one tertiary paediatric palliative care service in facilitating planned withdrawal of ventilatory support outside the intensive care setting, with the purpose of developing local guidance for practice. METHODS:Retrospective 10-year (2003-2012) case note review of intensive care patients...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305492
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:The primary aim was to evaluate the efficacy of financial incentives for reducing paediatric tobacco smoke exposures (TSEs) through motivating cigarette usage reduction among low-income maternal caregivers and members of their social network. DESIGN:Randomised control pilot trial over a 6-month study follow...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2019-318352
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:A tailor-made serogroup B outer membrane vesicle vaccine was evaluated in the context of a serogroup B meningococcal epidemic dominated by Neisseria meningitidis strain B:4:P1.7b,4. OBJECTIVE:To determine the safety, reactogenicity and immunogenicity in infants aged 6-8 months of a meningococcal B vaccine d...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/adc.2007.132571
更新日期:2009-10-01 00:00:00
abstract::Nerve growth factor (NGF) is the first described neurotrophin that stimulates the growth and differentiation of nerve cells and promotes skin and peripheral tissue regeneration. Recent studies suggest that NGF influences endothelial cell proliferation and angiogenic activity. In view of these proposed regenerative eff...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.87.5.446
更新日期:2002-11-01 00:00:00
abstract::A cohort of 164 children born within the defined boundaries of greater Manchester during the years 1981 to 1984 inclusive were identified as having bilateral sensorineural hearing loss, giving a prevalence of 1.2/1000 population of 1/817 births. Ninety three children developed an additional conductive hearing loss sec...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.7.757
更新日期:1990-07-01 00:00:00
abstract::A double blind crossover trial of 20 micrograms intranasal 1-deamino-8-d-arginine vasopressin (DDAVP) versus placebo was carried out in 17 children with intractable enuresis aged between 6 and 13 years who had failed to respond to drugs and an enuresis alarm. Fluid intake was not restricted. There was a significant re...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.61.11.1104
更新日期:1986-11-01 00:00:00
abstract::We have measured total work of breathing before and after the inhalation of water, salbutamol, and ipratropium bromide, given as nebulised solutions, in 39 studies on 25 infants with acute, severe bronchiolitis. Twenty minutes after nebulised water, mean work of breathing per minute was increased by 4% and work per li...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章
doi:10.1136/adc.58.4.279
更新日期:1983-04-01 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::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::Pancreatic lipase catalyses the hydrolysis of emulsified triglycerides to form a transparent solution of monoglycerides and fatty acids. Levels of serum pancreatic lipase were measured in neonates known to have cystic fibrosis and compared with levels in control infants. During the first weeks of life infants with cys...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.57.7.553
更新日期:1982-07-01 00:00:00