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::The aim of this study was to investigate sudden infant death syndrome (SIDS) in the context of total infant mortality for Aboriginal and non-Aboriginal infants. Deaths for infants born in Western Australia from 1980 to 1988 inclusive were ascertained from a total population data base. Infant mortality rates and rates ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1994.tb00626.x
更新日期:1994-06-01 00:00:00
abstract::Oesophageal duplication cysts in infants (usually males) should be recognized as a cause of respiratory distress which worsens during the neonatal period, and which is associated with feeding difficulties. Their radiological appearance is that of a right-sided posterior mediastinal mass, which is shown to be cystic on...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1993.tb00542.x
更新日期:1993-10-01 00:00:00
abstract::The development of educational packages on health-related topics has become common in school curricula. This paper describes an integrated health and education input in the development of an educational package about asthma for Year 8 high school students. Ownership and educational relevance of the package (ensuring i...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1994.tb00719.x
更新日期:1994-12-01 00:00:00
abstract::The aim of this study was to determine whether the severity of symptoms associated with rotavirus infection was related to the serotype of the infecting virus. Severity of clinical symptoms in 108 children admitted to hospital for treatment of rotavirus diarrhoea was retrospectively assessed using a scoring system for...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1992.tb02618.x
更新日期:1992-02-01 00:00:00
abstract:AIM:Relatively little is known about the results of liver tests among adolescents. The purpose of this study was to describe the distributions of liver tests, to identify the upper normal limits (UNLs) and to describe the correlations among liver tests. METHODS:Overnight fasting blood samples were collected from a rep...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2008.01386.x
更新日期:2008-10-01 00:00:00
abstract:AIM:We aimed to determine, in full-term newborns born between 2000 and 2499 g, what proportion develop problems or the need for interventions that would likely require admission to a special care nursery (SCN) (i.e., needed an intravenous line (IV) or a nasogastric tube (NGT). METHODS:A multicentre, retrospective audi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,多中心研究
doi:10.1111/jpc.12304
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVE:The aims of the present study were to describe the growth pattern of children starting stimulant medication and to analyse the changes over time in height, weight and height velocity in a cohort of treated patients. METHODS:Retrospective review of growth data from files of all newly treated patients with att...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00107.x
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVE:This study was designed to ascertain the prevalence of respiratory symptoms in South Australian preschool children and to investigate the relationship between prevalence rates and geographic location. METHODOLOGY:Data were collected from 14,124 families with a child aged 4 years 3 months to 5 years of age. T...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1995.tb00757.x
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To assess the prevalence of hepatitis C in 200 patients with paediatric malignancies, surviving in remission more than 5 years from diagnosis, who had received blood product transfusions before 1990 when routine screening of blood products for hepatitis C began. METHOD:The second and third generation Abbott ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1997.tb01587.x
更新日期:1997-06-01 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 identify risk factors for adverse outcomes from bacterial meningitis. METHODOLOGY:From a cohort of 166 children with bacterial meningitis who were studied prospectively, 130/158 (82%) survivors underwent neurological, neuropsychological, audiological and behaviour assessments 5-9 years following their ill...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1996.tb00949.x
更新日期:1996-10-01 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::Paediatricians contribute the greatest proportion of prescriptions for psychotropic medication to children between the ages of 3 and 14 years in Australia. Medications indicated for attention-deficit hyperactivity disorder are the most commonly prescribed, followed by antidepressants and antipsychotics. Outside treatm...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14155
更新日期:2018-10-01 00:00:00
abstract:OBJECTIVES:To assess the knowledge of pulse oximetry of senior (SMO) and junior medical officers (JMO) in a tertiary paediatric hospital. METHODS:A 16-item multiple choice questionnaire was administered to SMO and JMO without prior notice or instruction in the area. The questions were completed voluntarily and anonymo...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00238.x
更新日期:2003-11-01 00:00:00
abstract:AIM:Footprints have long been used as proxy measures of foot morphology, yet there is little consensus regarding footprints versus measures of foot posture, which address foot anatomy directly. Foot posture in children can be a confusing clinical presentation, with previous studies both supporting and refuting the rela...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14558
更新日期:2020-02-01 00:00:00
abstract:OBJECTIVE:To determine the type and outcome of early post-traumatic seizures in children and the factors associated with it. METHODOLOGY:A prospective observational study on all consecutive children with head injuries at the General Hospital Kuala Lumpur between November 1993 and December 1994. The onset, type and fre...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1996.tb00917.x
更新日期:1996-04-01 00:00:00
abstract::Sudden infant death syndrome (SIDS) is a leading cause of death in infants, although the mechanisms leading to death remain unclear. Multiple theories have emerged over time, with one of the most influential hypotheses being the triple risk model. This model, first devised in 1972 and later revised in 1994 by Filiano ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/jpc.13429
更新日期:2017-02-01 00:00:00
abstract::In complex decisions, there are times when there may be a conflict between the recommendations from clinical practice guidelines and the outcome of a shared decision-making process between the clinician and the patient. Sticking rigidly to practice guidelines can be seen as paternalistic and even dismissive of a patie...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14577
更新日期:2019-09-01 00:00:00
abstract::Globally, COVID-19 lockdown measures have exposed children to more sexual, physical and emotional abuse and neglect. Although the COVID-19 pandemic is likely to have long-lasting adverse psychological effects on children, there have been comparatively few studies on children's health as compared with adults, particula...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.15289
更新日期:2020-12-09 00:00:00
abstract::Infantile botulism classically presents with a triad of clinical features: Bulbar palsies (slow/absent pupil response) Alert Absent fever Other common features are: Constipation, ptosis and poor feeding The diagnosis is a clinical one, confirmed by EMG and by testing stool for the organism, C. botulinum, or its toxin....
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2000.00595.x
更新日期:2000-12-01 00:00:00
abstract:AIMS:As growing concerns exist regarding phthalate exposure, which could be teratogenic, carcinogenic or induce reproductive toxicity, we aimed to review the evidence of the risks due to the use of medical devices containing di(2-ethylhexyl)phthalate in hospitalized neonates. METHODS:We reviewed the literature, search...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/jpc.12244
更新日期:2013-09-01 00:00:00
abstract:AIM:Infants born very prematurely often received corticosteroids to minimise the risk of developing bronchopulmonary dysplasia (BPD) but their long term impact on lung function at school age is unclear. METHODS:A cross-sectional study of 105 children [mean gestation of 27 weeks] was undertaken. Lung function assessmen...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2010.01992.x
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:To estimate the health burden of urinary tract infection in children less than 15 years of age in Australia and to ascertain whether any significant change has occurred during the past decade. METHODOLOGY:The number of children less than 15 years of age who were admitted in New South Wales for urinary tract ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1997.tb01636.x
更新日期:1997-10-01 00:00:00
abstract::The outcome of 38 children with endstage renal failure who entered a dialysis and renal transplant programme over a period of 16 years is reported. The initial care was given in an adult programme but in 1985 this was changed to a comprehensive and specifically paediatric programme. Patient survival was 97, 86 and 80%...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1990.tb01071.x
更新日期:1990-10-01 00:00:00
abstract::The aim of this study was to determine whether infants absorb aluminium from antacid therapy. The study was conducted at Torrens House, a service provided by Child and Adolescent Health Services (CAFHS) for feeding and settling problems. Over an 11 week period, all patients receiving antacid therapy were studied. Pati...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1992.tb02658.x
更新日期:1992-06-01 00:00:00
abstract:OBJECTIVE:To examine daily cows milk consumption and duration of breastfeeding in infants and young children with anal fissure and constipation. METHODS:Two groups of 30 consecutive children aged between 4 months and 3 years were evaluated retrospectively. Group I comprised children with chronic constipation and anal ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00152.x
更新日期:2003-07-01 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:AIM:The 2006 World Health Organization (WHO) growth charts have been widely adopted by Canadian dieticians for growth monitoring of Canadian children rather than the National Health and Nutrition Examination Survey (NHANES III) reference data. It has been unclear as to which is the most appropriate. METHODS:We calcula...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12152
更新日期:2013-04-01 00:00:00
abstract:AIM:To explore clinical aspects of head injuries caused by ceiling fans in children. METHODS:Cases were identified using a sensitive search strategy of the Townsville Emergency Department information system from 1 December 2005 to 30 April 2010, and a retrospective structured medical record review was undertaken. RES...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12213
更新日期:2013-06-01 00:00:00
abstract:AIM:Ketamine is one of the most commonly used sedatives for facilitating painful procedures for paediatric patients in the emergency department (ED). However, the use of ketamine is associated with a common, though not serious, adverse event usually called ketamine-associated vomiting (KAV). The purpose of this study i...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,随机对照试验
doi:10.1111/jpc.12515
更新日期:2014-07-01 00:00:00