Abstract:
:CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Hsu P,Ma A,Wilson M,Williams G,Curotta J,Munns CF,Mehr Sdoi
10.1111/jpc.12497subject
Has Abstractpub_date
2014-07-01 00:00:00pages
504-11issue
7eissn
1034-4810issn
1440-1754journal_volume
50pub_type
杂志文章,评审abstract::A patient with carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b) is reported. The patient presented at 5 months of age with failure to thrive, prolonged diarrhoea, hepatomegaly and elevated serum liver transaminases. Liver biopsy showed steatosis. A low serum albumin and elevated serum liver transaminases ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2001.00671.x
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVES:To evaluate the usefulness of a microelectronic tablet-dispenser for monitoring adherence to preventive therapy for tuberculosis infection in adolescents. METHODOLOGY:Twenty-one patients with positive Mantoux tests were treated with isoniazid (INH), dispensed in a microelectronic tablet-dispenser that recor...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1999.00371.x
更新日期:1999-08-01 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::Rett syndrome, a severe neurodevelopmental disorder occurring almost exclusively in females, is thought to be the second most common cause of profound mental retardation in females after Down syndrome. Recent genetic advances suggest the gene for Rett syndrome to be located on the distal arm of the X chromosome, Xq28....
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1046/j.1440-1754.1999.355403.x
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVE:To examine the risk of death for bed-sharing infants. METHODOLOGY:All unexpected infant deaths occurring in South Australia between 1970 and 1997, occurring after the infant was put to rest and diagnosed by after death scene investigation and autopsy as sudden death infant syndrome, accidental death, or 'und...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2000.00548.x
更新日期:2000-12-01 00:00:00
abstract:AIM:We aim (i) to characterise the clinical features of vitamin A deficiency (VAD) in a small cohort of Australian children; (ii) to determine the effects of VAD; and (iii) to quantify the prevalence of ophthalmic review in this group. METHODS:Data collected from the charts incorporated patient demographics, laborator...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13243
更新日期:2016-07-01 00:00:00
abstract:AIM:Children in out-of-home care have high and frequently unidentified health needs. The Child Protection Unit at Sydney Children's Hospital offers comprehensive health screening to children in care. Recommendations for remediation are made, but follow-up in the clinic is not offered. Current research has failed to est...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01592.x
更新日期:2009-11-01 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::Clinicians practising in different regions of the world are often impressed at marked differences in disease patterns witnessed. The bases of most obvious differences are usually socio-economic and genetic, but culture and environment can be equally important. Documenting and assessing such differences is more than ju...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.1996.tb00929.x
更新日期:1996-10-01 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:OBJECTIVE:To evaluate child and parent perceptions of treatment with stimulant medication in a sample of children with attention deficit hyperactivity disorder (ADHD). METHODOLOGY:Child and parent perceptions questionnaires were completed for 102 subjects participating in a double-blind, crossover trial of methylpheni...
journal_title:Journal of paediatrics and child health
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1440-1754.1998.00224.x
更新日期:1998-06-01 00:00:00
abstract:AIM:The aim of this study is to determine the association between waist circumference (WC) and childhood-masked hypertension. METHODS:A territory-wide, school-based cohort of 1385 Hong Kong students (672 boys and 713 girls) aged 8-17 years was analysed. The ambulatory blood pressure-monitoring assessment was performed...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13121
更新日期:2016-04-01 00:00:00
abstract::Australia requires a national plan, similar to plans developed internationally, to address the impacts of rare diseases on individuals, the community and health services. Rare diseases often present in childhood, many are chronic, some life threatening and others associated with significant disability. However, diagno...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01608.x
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:To assess the prevalence of asthma and other allergies in children in Urumqi and Beijing, compared with that in Hong Kong. METHODS:A total of 7754 primary school students were randomly selected to participate in the study. Data were collected in 1995-96 using the International Study of Asthma and Allergies i...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2000.00457.x
更新日期:2000-04-01 00:00:00
abstract:AIM:Milk curd obstruction is one of the less common causes of neonatal bowel obstruction. It has been described in premature infants who received high caloric formula feeds. We report presentation, management and outcome of premature neonates who developed milk curd obstruction while being fed fortified expressed breas...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2008.01460.x
更新日期:2009-04-01 00:00:00
abstract:AIM:Despite targeting newborns at risk of hypoglycaemia based on clinical characteristics, blood glucose measured at 1 and 4 h of age is frequently normal. Identification of at-risk newborns at the greatest risk of hypoglycaemia would allow more targeted, earlier intervention. We aimed to determine the ability of calcu...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14473
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:To assess the effect of medical antireflux treatment, and of an infant mental health consultation (IMHC), on persistent crying in infants and maternal distress. METHODS:Infants under 9 months of age with persistent crying, and their mothers, were enrolled in a randomized placebo-controlled trial. At enrollme...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1440-1754.2006.00786.x
更新日期:2006-01-01 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
abstract::Foreign body ingestion is seen commonly in paediatric surgical practice and the vast majority of ingested foreign bodies will pass spontaneously once they have made their way into the stomach. Lead foreign body ingestion in children represents a special case in view of the potential for acute lead intoxication seconda...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.1997.tb01668.x
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:To document the pattern and sequelae of invasive pneumococcal infection in hospitalized children. METHODOLOGY:Retrospective review of Streptococcus pneumoniae (Sp) isolates from normally sterile sites from 1981 to 1992 at three paediatric centres in Sydney for demographic data, spectrum of disease, predispos...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1440-1754.1995.tb00819.x
更新日期:1995-08-01 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:AIM:To examine the use of high frequency ventilation (HFV) to treat newborn infants in Australia and New Zealand and the associated complications and outcomes. METHODS:Data for all infants receiving HFV were collected from the 28 neonatal intensive care units contributing to the Australian and New Zealand Neonatal Net...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01036.x
更新日期:2007-03-01 00:00:00
abstract:AIM:The aim of this study was to assess the efficacy of propranolol treatment in multifocal and diffuse infantile hepatic haemangioma (IHH). METHODS:A retrospective study of symptomatic or potentially symptomatic IHH was performed in our hospital between 2011 and 2016. RESULTS:Thirteen patients were identified: 2 pat...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14375
更新日期:2019-10-01 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 describe the demographic and clinical features, short-term outcomes, microbiology and renal tract abnormalities of a cohort of young Australian children with symptomatic urinary tract infection. METHODOLOGY:A total of 304 children < 5 years with their first documented symptomatic urinary tract infection w...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1998.00190.x
更新日期:1998-04-01 00:00:00
abstract:OBJECTIVES:To confirm the presence of human metapneumovirus (hMPV) in New Zealand and establish its prevalence in selected paediatric patient groups. METHODS:Nasopharyngeal swabs were collected in two separate paediatric studies enrolling children clinically diagnosed with either bronchiolitis or pneumonia and tested ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00461.x
更新日期:2004-09-01 00:00:00
abstract:AIM:This study was designed to investigate whether the playing-back of the recorded maternal voice through the headphones to children undergoing bilateral ophthalmic surgery has clinical effects on the incidence of emergence agitation, and the anaesthesia recovery course. METHODS:In this prospective, blinded and rando...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14948
更新日期:2020-09-01 00:00:00
abstract:AIM:This study aims to determine factors impacting the parental burden in immunoglobulin E (IgE)-mediated food-allergic children (FAC), focusing on attitudes towards adrenaline autoinjectors (AAIs). METHODS:Questionnaires were sent to parents of diagnosed IgE-mediated FAC attending follow-up allergy clinic appointment...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12794
更新日期:2015-07-01 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::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