Abstract:
:The recent sequencing of the human genome combined with the development of massively high throughput genetic analysis technologies is driving unprecedented growth in our knowledge of the molecular basis of disease. While this has already had a major impact on our diagnostic power, the therapeutic benefits remain largely unrealised. This review examines progress in the exciting and challenging field of gene therapy. In particular we focus on the treatment of genetic disease in infants and children where the most significant successes have been observed to date, despite the majority of trial participants being adults. Notably, gene transfer to the haematopoietic compartment has provided the clearest examples of therapeutic benefit, particularly in the context of primary immunodeficiencies. The triumphs and tribulations of these successes are explored, and the key challenges confronting researchers as they seek to further advance the field are defined and discussed.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Ginn SL,Alexander IEdoi
10.1111/j.1440-1754.2011.02204.xsubject
Has Abstractpub_date
2012-06-01 00:00:00pages
466-71issue
6eissn
1034-4810issn
1440-1754journal_volume
48pub_type
杂志文章,评审abstract::These guidelines have been developed by the anaphylaxis working party of the Australasian Society of Clinical Immunology and Allergy to provide advice for minimizing the risk of food-induced anaphylaxis in schools, preschools and child-care centres. The guidelines outline four steps for the prevention of food anaphyla...
journal_title:Journal of paediatrics and child health
pub_type: 指南,杂志文章
doi:10.1111/j.1440-1754.2004.00509.x
更新日期:2004-12-01 00:00:00
abstract:OBJECTIVE:To describe the obstetric and perinatal factors, in particular the method of delivery, associated with development of a subgaleal haematoma (SGH) and to determine the outcome of survivors with this type of birth trauma. METHODOLOGY:Perinatal and obstetric data were retrospectively reviewed for 37 infants adm...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1996.tb01559.x
更新日期:1996-06-01 00:00:00
abstract:AIM:The aim of this study is to evaluate consultant general paediatricians' opinions of a UK paediatric telecardiology service. METHODS:A structured questionnaire was developed and sent to all consultant paediatricians working in a district general hospital in Northern Ireland. RESULTS:Paediatricians (n = 35) regarde...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12501
更新日期:2014-06-01 00:00:00
abstract:OBJECTIVE:To highlight the increase in the number of cases of clonidine overdose admitted to a specialist paediatric hospital, with particular reference to the clinical features, clinical course and circumstances surrounding the incident. METHODS:Cases of clonidine overdose were identified by review of the emergency d...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1998.00301.x
更新日期:1998-12-01 00:00:00
abstract::Intoxications, both accidental and intentional, are common in children and adolescents and often require hospitalisation and intensive treatment. Antiepileptic drugs are a possible cause of poisoning and intoxications because this category of medications has shown a rising trend in recent years. They might be responsi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/jpc.13833
更新日期:2018-05-01 00:00:00
abstract:AIM:To investigate the success rates and predictors of safety fast test among neonates admitted to the neonatal intensive care unit for hypoglycemia. METHODS:A retrospective review of neonates transferred from the newborn nursery unit to the neonatal intensive care unit for intravenous dextrose therapy for hypoglycemi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.15247
更新日期:2020-11-03 00:00:00
abstract:AIM:The aim of this study is to compare the high-frequency pressure amplitude (oscillatory change in pressure (ΔP)) and tidal volume (high-frequency tidal volume at the airway opening (VTHF )) delivered by the Dräger VN500 (Drägerwerk Ag & Co., Lübeck, Germany) and the Sensormedics 3100 (SM3100; CareFusion, San Diego, ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12398
更新日期:2014-01-01 00:00:00
abstract::The recently released World Health Organization growth charts are methodologically robust, as well as clinically useful tools for monitoring the growth of children. They have been endorsed by premier organisations such as the Royal College of Paediatrics and Child Health (UK), Canadian Pediatric Society, Australian Br...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2011.02214.x
更新日期:2012-02-01 00:00:00
abstract:OBJECTIVES:Parental alcohol misuse exposes children to risk, but is poorly identified in paediatric settings. We aimed to (i) measure the alcohol use in parents of a sample of children attending emergency and (ii) assess the quality of documentation of this alcohol use by paediatric residents. METHOD:Parents of childr...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1999.t01-1-00345.x
更新日期:1999-04-01 00:00:00
abstract:AIM:To quantify the frequency of emergency department (ED) presentations and profile the socio-demographic, health and presentation characteristics of paediatric ED frequent presenters. METHODS:A population-based data linkage study of 55 921 children in the South Australian Early Childhood Data Project aged 0-12 years...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.15119
更新日期:2021-01-01 00:00:00
abstract::This manuscript describes two interesting patients who had exercise-induced symptoms that unmasked an alternative underlying diagnosis. The first is an 8-year-old boy who was treated for asthma all his life but really had exercise-induced stridor (labelled as wheeze) causing significant exercise limitation, which was ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2011.02209.x
更新日期:2014-10-01 00:00:00
abstract::For over two decades gene therapy has been actively pursued as a treatment modality for the inherited diseases that affect the paediatric population, however, it is still to make a real impact in the clinic. There are many reasons for this including inadequate technology and a lack of understanding of the biological c...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01074.x
更新日期:2007-05-01 00:00:00
abstract::Lower urinary tract symptoms, particularly urgency, frequency and incontinence are common in school-aged children but are often overlooked. They may cause considerable physical, social and psychological difficulties to children and their families, and usually are manifestations of underlying non-neurogenic voiding dis...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2011.02216.x
更新日期:2012-02-01 00:00:00
abstract:AIM:To evaluate the intake of a soy protein-based supplement (SPS) and its effects on the sexual maturation and nutritional status of prepubertal children who consumed it for a year. METHODS:Healthy children (n = 51) were recruited and randomly assigned to consume the lunch fruit juice with (n = 29) or without (n = 22...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13934
更新日期:2018-09-01 00:00:00
abstract::Routine childhood immunizations are compulsory in a small number of countries, including the United States of America. Arguments used to justify making immunizations compulsory include enhancing the health of the community and treating as paramount the rights of the child to be protected against vaccine-preventable di...
journal_title:Journal of paediatrics and child health
pub_type: 历史文章,杂志文章
doi:10.1111/j.1440-1754.2004.00399.x
更新日期:2004-07-01 00:00:00
abstract:OBJECTIVE:To investigate the process and quality of informed consent, motivation and influence in parents who were invited to enroll their baby in a research project. METHODOLOGY:A mixed quantitative/qualitative questionnaire was sent to a cohort invited to participate in a physiological research project on sudden inf...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2001.00612.x
更新日期:2001-02-01 00:00:00
abstract:OBJECTIVE:Children referred for persistent cough were evaluated for the referring and final diagnosis, and the extent of the use of medications prior to referral and the side effects encountered. METHODS:Data on children seen by respiratory paediatricians for persistent cough (> or =4 weeks) in a tertiary respiratory ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00045.x
更新日期:2002-12-01 00:00:00
abstract:AIM:In adult medicine, rates of investigation and prescribing appear to be increasing. Such information is lacking for paediatrics. We audited Australian paediatricians' practices in 2013 to determine changes since 2008 in: (i) conditions seen; (ii) consultation duration; (iii) imaging and pathology ordered; and (iv) p...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13280
更新日期:2017-01-01 00:00:00
abstract:AIM:This paper describes the Toddlers at Risk of Autism Clinic (TRAC), which utilises the Social Attention and Communication Study (SACS) and/or Autism Detection in Early Childhood (ADEC) play-based assessments to facilitate the early diagnosis of autism. METHODS:A retrospective audit was conducted of all 42 children ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12832
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:To assess the effect of a one-day paediatric life-support course on the knowledge of paediatric trainees. METHODS:A telephone survey was performed prior to and at set intervals following the course. Responses to individual questions before and after the course were analysed and an overall test score was calc...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00773.x
更新日期:2002-06-01 00:00:00
abstract::A child with psychotic symptoms and attention-deficit hyperactivity disorder who developed extrapyramidal symptoms while on a combination of risperidone, methylphenidate, sertraline, tropisetron and ketorolac is described herein. The extrapyramidal symptoms resolved with the administration of benztropine, an anticholi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00719.x
更新日期:2002-02-01 00:00:00
abstract::Inhaled steroid therapy is one of the mainstays of treatment of asthma in children. Side effects, including suppression of the hypothalamic-pituitary-adrenal (HPA) axis, have been noted with high doses of inhaled steroids. Most studies concerning side effects have been done with mechanical nebulization devices or hand...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1991.tb00398.x
更新日期:1991-08-01 00:00:00
abstract:AIMS:This article compares the severity of illness scoring systems clinical risk index for babies (CRIB)-II and score for neonatal acute physiology with perinatal extension (SNAPPE)-II for discriminatory ability and goodness of fit in the same cohort of babies of less than 32 weeks gestation and aims to provide validat...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12742
更新日期:2015-05-01 00:00:00
abstract:OBJECTIVE:To compare the outcomes of two models for the management of children admitted to hospital with suspected child abuse: routine early case conferencing versus standard evaluation. METHODS:Between March 2001 and February 2002 professionals from the Royal Children's Hospital, Melbourne, Victoria Police and Child...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1440-1754.2005.00694.x
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the clinical features and outcome in girls with a vaginal foreign body. METHODS:Retrospective review of medical records of 35 girls with a vaginal foreign body seen in an outpatient clinic for paediatric and adolescent gynaecology between 1980 and 2000. RESULTS:The ages ranged from 2.6 to 9.2 ye...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00338.x
更新日期:2004-04-01 00:00:00
abstract:AIM:This study aims to evaluate adherence to a clinical guideline for screening and prevention of neonatal hypoglycaemia on the post-natal wards. METHODS:Retrospective chart review of 581 healthy term neonates born at a tertiary maternity hospital. Indications for hypoglycaemia screening included small for gestational...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12293
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE:To study injuries in young people associated with the use of rollerblades, draw comparisons with skateboarding and rollerskating injuries, and suggest strategies for injury prevention. METHODOLOGY:Injuries associated with the use of rollerblades, skateboards and rollerskates in young people aged < or = 14 ye...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1996.tb01538.x
更新日期:1996-02-01 00:00:00
abstract:AIM:This study describes clinical staff opinions on the availability and suitability of resources to provide trauma care to children and their families and any perceived strengths, gaps and potential interventions to strengthen care. METHODS:A mixed-method study was conducted in five Australian paediatric trauma centr...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13189
更新日期:2016-08-01 00:00:00
abstract:AIMS:Down syndrome (DS) patients present several immunological disturbances, with high rates of infections, malignancies and autoimmune phenomena. The present study aims to evaluate the prevalence of autoantibodies in children and adolescents with DS that are not usually investigated, and to establish possible clinical...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01229.x
更新日期:2008-04-01 00:00:00
abstract::We describe three cousins who presented with agitation, dysphasia and/or coma, and developed hemiplegia following initial onset of symptoms. Two cases followed minor head injuries, two were pyrexial and two were associated with neutrophilia. Two cases required ventilatory support on the intensive care unit. Magnetic r...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01465.x
更新日期:2009-03-01 00:00:00