Abstract:
:Chromosomal microarray or molecular karyotype has become the first-line genetic investigation for children with intellectual disability, autistic spectrum disorder or multiple congenital anomalies. Chromosomal microarray increases the detection rate of pathogenic chromosome imbalances including submicroscopic deletions or duplications in patients with undiagnosed intellectual disability to approximately 15% compared with 3% with conventional cytogenetics. This review article summarises the diagnostic technique and highlights the advantages and limitations of chromosomal microarray. Our aim is to assist clinicians in providing pretest counselling and with interpretation of the result.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Palmer EE,Peters GB,Mowat Ddoi
10.1111/j.1440-1754.2011.02081.xsubject
Has Abstractpub_date
2012-02-01 00:00:00pages
E59-67issue
2eissn
1034-4810issn
1440-1754journal_volume
48pub_type
杂志文章,评审abstract:OBJECTIVE:To clarify postnatal changes in urinary uric acid (UA) excretion in normal term infants and to examine the effects of prematurity or illness on the UA excretion. METHODOLOGY:Measurements of urinary UA were performed in term and premature infants at the ages of 1 and 7 days and at 1 and 4 months, as well as 7...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1996.tb02564.x
更新日期:1996-08-01 00:00:00
abstract::Undernutrition remains a major public health problem among children living in Asia. Although the burden is maximal among poorer, rural and Indigenous communities, the problem affects the majority in many Asian countries, especially in South Asia. In order to prevent the pervasive consequences of undernutrition, strate...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2010.01839.x
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:To identify which clinical situations are the most difficult to manage for general paediatricians in Victoria, Australia. METHODS:Self-administered questionnaires were sent to general paediatricians in Victoria. They were asked their opinions regarding what were the most difficult and the most dangerous clin...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00017.x
更新日期:2002-10-01 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:AIM:High flow nasal cannula therapy (HFNC) is an emerging method of non-invasive respiratory support therapy for premature infants. Recent evidence around its safety and efficacy for post-extubation respiratory support is encouraging. However, its effect on long-term respiratory outcomes is not known. The aim of this s...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12693
更新日期:2015-02-01 00:00:00
abstract:OBJECTIVE:To determine the common features of small bowel injury (SBI) in childhood and the consequences of delayed diagnosis. METHODOLOGY:A retrospective case review was performed of children with traumatic SBI between January 1988 and November 1999. RESULTS:Twenty-eight patients were identified with SBI. Road traum...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2000.00502.x
更新日期:2000-06-01 00:00:00
abstract:OBJECTIVES:To evaluate the habits of betel quid use and areca nut chewing among school-aged children in Karachi, Pakistan. Areca nut (betel nut) is chewed by itself, in various scented preparations, and in betel quid (containing betel leaf, areca nut, slaked lime, condiments, sweeteners and sometimes tobacco) in variou...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00040.x
更新日期:2002-10-01 00:00:00
abstract::This report demonstrates the questionable usefulness of monitoring digoxin concentrations using the available immunoassays in some clinical situations. The patient reported here showed three characteristics (being a neonate with hepatic and renal impairment) that are associated with the presence of digoxin-like immuno...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1990.tb02418.x
更新日期:1990-06-01 00:00:00
abstract::Metatarsus adductus (MA) occurs in one to two cases per 1000 births and is the most common congenital foot deformity in newborns. The appearance is that of a curved or adducted forefoot with a normal hindfoot. A systematic literature review was conducted to answer the following question: For a child who presents with ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/jpc.12219
更新日期:2013-09-01 00:00:00
abstract:AIM:This study compared the outcomes of patients with biliary atresia (BA) treated according to a standardised protocol with historical patients. METHODS:This is a single-centred retrospective study of BA patients treated from 1980 to 2016. A standardised treatment protocol was established since 2008 regarding peri-op...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14698
更新日期:2020-11-01 00:00:00
abstract:AIM:To determine the influence of breastfeeding on overweight and obesity in early adolescence. METHODS:Data about breastfeeding duration, BMI of children at 14 years, and confounding variables, were collected from an ongoing longitudinal study of a birth cohort of 7776 children in Brisbane. Prevalence of overweight a...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2006.00864.x
更新日期:2006-05-01 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:OBJECTIVES:We observed a reduced incidence of necrotizing enterocolitis (NEC) despite increased survival of extremely premature infants over the last two decades. A different susceptibility pattern to NEC according to gestation has been proposed. We aim to examine the influence of perinatal risk factors for NEC in infa...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2005.00583.x
更新日期:2005-04-01 00:00:00
abstract:AIM:Donor selection for milk banks is essential to ensure the safety and nutritional quality of the donor milk, and to ensure that the prospective donor and her breastfeeding infant do not come to harm through donating. Australian Red Cross Lifeblood Milk went through a robust process to develop a set of criteria for t...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14909
更新日期:2020-08-01 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:AIM:To determine the types and timing of breastfeeding support for mothers of newborn babies and the extent to which this affects breastfeeding intentions and behaviours in a region with low rates of breastfeeding initiation and duration. METHODS:A cross-sectional study by interviewer-administrated questionnaire was u...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01643.x
更新日期:2010-03-01 00:00:00
abstract::The busy clinician is constantly faced with clinical questions regarding patient care. It is easy to feel overwhelmed by the large amount of health information available electronically. This article offers one easy approach for searching the electronic database. It is intended for the busy clinician who is unsure how ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2012.02503.x
更新日期:2012-12-01 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::Five children with multiple relapsing steroid-dependent nephrotic syndrome were treated with continuous cyclosporin for periods ranging from 18 to 48 months. Renal biopsy showed mild mesangial proliferation in three of the children and minimal change in two. All children previously had been treated with cyclophosphami...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1993.tb00484.x
更新日期:1993-06-01 00:00:00
abstract:OBJECTIVE:To determine the aetiology, symptoms and outcome of extreme sodium derangement in a paediatric inpatient population. METHODOLOGY:A retrospective study of children with extreme disturbance of their plasma sodium (> or = 165 mmol/L or < or = 115 mmol/L) admitted to a tertiary referral centre during a 72-month ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1997.tb00986.x
更新日期:1997-02-01 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::Growth charts are the mainstay of monitoring growth in babies who were born small or preterm. A variety of different charts are available, each with specific limitations. Most birthweight centile charts underestimate growth restriction in preterm babies and there are few good charts for monitoring longitudinal growth ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2012.02534.x
更新日期:2012-09-01 00:00:00
abstract:AIM:The purpose of our study was to build a multiple renal length nomogram for Hong Kong Asian children based on normal renal ultrasonography. METHODS:All children below the age of 13 years, who underwent ultrasonography in a local Hospital in Hong Kong from 23 September 2008 to 31 January 2009 due to melamine exposur...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2010.01714.x
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVES:To determine the prevalence of and assess risk factors associated with head lice infections (pediculosis) in children from government primary schools in Victoria, Australia. METHODS:Between May and October 2001, children were selected by clustered random sampling of schools and classes, then examined for he...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00486.x
更新日期:2004-11-01 00:00:00
abstract:AIMS:Adrenal cortical tumours remain a rare entity with inconsistent consensus about treatment and follow up. This article reviews 25 years of experience in the Royal Children's Hospital, Melbourne, Australia. METHODS:All records with the diagnosis of adrenal adenoma or carcinoma between 1976 and 2001 were reviewed, e...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00268.x
更新日期:2003-12-01 00:00:00
abstract:AIM:Preterm infants are prone to temperature maintenance problems due to immature thermoregulatory mechanism and relatively large body surface area. The objective of the present study was to evaluate the performance of a new non-invasive infrared thermometer applied to the mid-forehead and temporal artery in comparison...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01526.x
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:To analyse hospital readmissions to 1 year in infants < 33 weeks' gestation. STUDY DESIGN:Cohort of very preterm infants born in Western Australia. METHODS:Parental social class, history of asthma, race, gestational age, birthweight, sex, severity of respiratory disease and oxygen requirement at 28 days chr...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1999.00308.x
更新日期:1999-04-01 00:00:00
abstract:AIM:The aim of this study was to determine the frequency, risk factors and anthropometric measurements of fetally malnourished, liveborn singleton term neonates. METHODS:The computed delivery room data of 11.741 liveborn singleton term neonates was used to compare malnourished and nourished newborns. RESULTS:Of the t...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2012.02520.x
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:Molecular analysis of the Bruton's tyrosine kinase (Btk) gene in two unrelated families, with a combined total of seven boys, affected by X-linked agammaglobulinaemia (XLA). METHODS:Protein electrophoresis and western blotting were used for the examination of Btk protein synthesis in blood leucocytes. Isolat...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2000.00546.x
更新日期:2000-10-01 00:00:00
abstract:AIM:This study aimed to investigate the prevalence of, and factors influencing, exclusive breastfeeding (EBF) at 6 months and continued breastfeeding (CBF) at 2 years. METHODS:Between January and February 2007, a cross-sectional study was conducted using a semi-structured questionnaire in 40 villages in the Vientiane ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01547.x
更新日期:2009-09-01 00:00:00