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 complexities that impact on the efficiency of gene delivery and its outcomes, both positive and negative. However, recent progress is now addressing these issues and indicates that these problems can be overcome, and that gene therapy will play a significant role in the treatment of at least some of these disorders. This review will first give a short overview of relevant gene delivery technologies, what strategies can be used and which diseases are potential targets for gene therapy, and then illustrate several specific diseases for which gene therapy is actively being developed.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Anson DS,Fletcher JMdoi
10.1111/j.1440-1754.2007.01074.xsubject
Has Abstractpub_date
2007-05-01 00:00:00pages
323-30issue
5eissn
1034-4810issn
1440-1754pii
JPC1074journal_volume
43pub_type
杂志文章abstract：AIM:Chronic respiratory disease is common among Aboriginal Australians. Chronic wet cough is an early marker of chronic disease in children but often goes undetected due, in part, to delayed health seeking by families. Currently, no studies have examined the reasons for delayed health seeking for children's chronic cou...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.14305
更新日期：2019-07-01 00:00:00
abstract：:Circumcision has been the traditional treatment for phimosis, but now is not the only management option, the best of which appears to be topical steroid application. Importantly, the literature suggests that phimosis probably is over-diagnosed, indicating that a prospective, randomized controlled study is needed to co...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章,评审
doi：10.1111/j.1440-1754.1996.tb02554.x
更新日期：1996-08-01 00:00:00
abstract：AIM:The aim of this study was to determine whether there is a match between the health problems that children face and the clinical trials that are being conducted, especially in low- and middle-income countries (LMICs). METHODS:All trials on the World Health Organisation International Clinical Trials Registry Platfor...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.13537
更新日期：2017-07-01 00:00:00
abstract：:Point-of-care ultrasound (POC US) is an adjunct to clinical paediatric emergency medicine practice that is rapidly evolving, improving the outcomes of procedural techniques such as vascular access, nerve blocks and fluid aspiration and showing the potential to fast-track diagnostic streaming in a range of presenting c...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章,评审
doi：10.1111/jpc.13098
更新日期：2016-02-01 00:00:00
abstract：AIM:Sleep problems are more common among children with disabilities. Mothers are likely to provide night-time care. Mothers of children with disabilities are known to experience high levels of stress and mental health issues compared with other mothers. Relationships between a child's sleep problems, and chronic matern...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.12254
更新日期：2013-09-01 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：:There is evidence that complementary and alternative medicine (CAM) is commonly being used for Australian children, however, at the same time, many doctors have little interest or understanding of the topic. Just as with mainstream treatments, CAM therapies have significant potential for adverse effects and drug inter...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1046/j.1440-1754.2003.00236.x
更新日期：2003-11-01 00:00:00
abstract：:Juvenile idiopathic arthritis results in significant pain and disability in both children and adults. Advances in treatment resulting in improved long-term outcomes have occurred; however, an emphasis on early and aggressive diagnosis and management hopes to improve outcomes further. Juvenile idiopathic arthritis rema...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章,评审
doi：10.1111/jpc.12218
更新日期：2013-09-01 00:00:00
abstract：:This report describes dual infection with Citrobacter freundii and Haemophilus influenzae type b causing septic arthritis and osteomyelitis of the elbow in a previously healthy 5-year-old boy. The patient was treated successfully with intravenous fosfomycin for 4 weeks. Infections with Citrobacter beyond the neonatal ...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1046/j.1440-1754.1998.00161.x
更新日期：1998-02-01 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：:Clinical audits should underpin everything we do as clinicians - to constantly evaluate and improve our day-to-day clinical practice. Errors in practice, suboptimal practice or inefficiencies can occur in any part of our health-care system, despite the training and best intentions of health-care professionals. Audits ...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.15068
更新日期：2020-10-01 00:00:00
abstract：:A 9 year old girl presented with seizures, weight gain and early morning behavioural changes. She had been commenced on anticonvulsants and was subsequently diagnosed with hyperinsulinaemic hypoglycaemia. This case demonstrates the importance of blood glucose monitoring in children presenting with new-onset seizures a...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.12399
更新日期：2014-04-01 00:00:00
abstract：AIM:Handovers have been established as a valuable educational tool; nevertheless, a paucity of literature exists evaluating contributors to the educational experience. Our study aimed to investigate participants' educational experiences based on a paediatric handover, and the facilitators and barriers towards teaching ...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.14964
更新日期：2020-09-01 00:00:00
abstract：OBJECTIVE:Angelman syndrome (AS) is a rare congenital neurodevelopmental disorder with complex genetic aetiology. Diagnosis may be difficult and there is severe life-long disability. An AS clinic was commenced in Sydney, Australia, in 1993 with the aim of gathering information about the natural history of AS, managemen...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1996.tb00902.x
更新日期：1996-04-01 00:00:00
abstract：AIMS:The aims of this study were to develop and evaluate a shorter gestational age estimation method based on the Dubowitz scoring system (DSS) that could be taught easily to untrained health-care workers. METHODS:Using the DSS, seven criteria were identified that explained 90% of the variance in gestational age estim...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2008.01429.x
更新日期：2009-01-01 00:00:00
abstract：:Congenital rubella syndrome can be associated with disgammaglobulinaemia and autoimmune phenomena in adult and paediatric population. The aim of this article is to present the association between a congenital rubella syndrome with hypogammaglobulinaemia and hyper IgM diagnosed at the age of 8 months and autoimmune man...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2007.01144.x
更新日期：2007-10-01 00:00:00
abstract：:A 7-month-old infant developed a discrete pustular rash confined to both soles during the acute phase of Kawasaki disease. Histological examination of a pustular lesion from the sole of a foot showed subcorneal neutrophilic microabscesses, psoriasiform acanthosis with a thin granular layer and mononuclear perivascular...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1046/j.1440-1754.2003.00117.x
更新日期：2003-04-01 00:00:00
abstract：:Venous thromboembolism (VTE) is rare in children and young adolescents, and occurs predominantly in those with congenital heart disease in whom guidelines exist for VTE prophylaxis. For other paediatric patients, the rarity of the event makes writing an evidence-based clinical practice guideline difficult because each...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2009.01686.x
更新日期：2010-06-01 00:00:00
abstract：AIM:To assess the clinical outcome of patients with moderate to severe cellulitis managed at a paediatric day treatment centre (DTC). METHODS:Prospective observational study of all patients (3 months to 18 years) with a presumed diagnosis of moderate to severe cellulitis made in a university-affiliated paediatric emer...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2007.01236.x
更新日期：2008-04-01 00:00:00
abstract：AIM:Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2-4 years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. Initial presenting features are similar to a range of common epilepsi...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.14890
更新日期：2020-08-01 00:00:00
abstract：OBJECTIVE:The objective of this study was to determine the degree of severity of enzyme deficiency in glucose-6-phosphate dehydrogenase (G6PD)-deficient Malaysian neonates as part of an effort to identify risk factors associated with severe hyperbilirubinaemia in G6PD-deficient infants. METHODOLOGY:During this study, ...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1995.tb02912.x
更新日期：1995-02-01 00:00:00
abstract：:Two hundred and seven Australian paediatricians were sent a questionnaire to determine whether they undertook developmental screening and/or assessment. Replies were received from 140 (68%) paediatricians of whom 115 (82%) stated they did developmental screening and 58 (41%) said they did developmental assessment. The...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1993.tb00534.x
更新日期：1993-10-01 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：AIM:To compare maternal reasons for non-immunisation and for partial immunisation in northern Nigeria, and determine the link between specific reasons and future intentions to immunise. METHODS:Responses to open-ended questions collected through a 2007 questionnaire survey were individually coded for key words using t...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2010.01956.x
更新日期：2011-05-01 00:00:00
abstract：:This paper considers diagnostic frameworks in developmental-behavioural paediatrics. The purpose of a diagnostic assessment is reviewed, and the use of categorical diagnoses is explored. A multi-level process of diagnostic formulation is outlined, highlighting the importance of a comprehensive focus on presenting symp...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2011.02071.x
更新日期：2012-02-01 00:00:00
abstract：OBJECTIVES:To determine the aetiology, incidence and short-term outcomes of New Zealand children with acute kidney injury (AKI) requiring renal replacement therapy (RRT) over a 6-year period. METHODS:A retrospective chart review of all children requiring RRT for AKI from January 2001 to December 2006 at Starship Child...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2008.01373.x
更新日期：2008-11-01 00:00:00
abstract：:A baby with ambiguous genitalia and 46XY chromosomes was raised as a female. Sudden and unexpected death at 11 months of age led to a post-mortem diagnosis of Drash syndrome. ...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1990.tb02436.x
更新日期：1990-08-01 00:00:00
abstract：:We describe a rare case of familial Cushing's disease occurring in a 7-year-old boy, and 19 years of follow up. Our patient first presented soon after his maternal aunt had been treated for Cushing's disease. The clinical presentation was made complicated by the development of an intercurrent eating disorder resemblin...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1997.tb00996.x
更新日期：1997-02-01 00:00:00
abstract：:A population of consecutively surviving very low birthweight (VLBW) infants comprising 41 infants (24 female) birthweight less than 1000 g and 108 infants (63 female) birthweight 1000-1500 g received detailed audiological evaluation. The audiological test battery comprised auditory brainstem evoked response (ABR) prio...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1992.tb02636.x
更新日期：1992-04-01 00:00:00
abstract：AIM:This study aimed to determine the outcome of the operation of children with biliary atresia (BA) at a tertiary paediatric referral centre in Malaysia. METHODS:A prospective study on all patients with BA referred to the University of Malaya Medical Centre (UMMC), Kuala Lumpur, from 1996 to 2005 was conducted. Survi...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2009.01490.x
更新日期：2009-05-01 00:00:00
