Abstract:
:A male neonate with partial monosomy 10q and partial trisomy 11q, due to paternal balanced translocation, and who had cerebellar and olfactory lobe hypoplasia, cardiovascular defects, duodenal atresia and imperforate anus, is presented. To the best of our knowledge, this is the first report on this combination of chromosomal abnormalities.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Maruyama K,Koizumi T,Ikeda Hdoi
10.1046/j.1440-1754.2001.00587.xkeywords:
subject
Has Abstractpub_date
2001-04-01 00:00:00pages
198-200issue
2eissn
1034-4810issn
1440-1754pii
jpc587journal_volume
37pub_type
杂志文章abstract:OBJECTIVE:To define the bowel habits of healthy Australian children aged up to 2 years. METHODOLOGY:One hundred and forty children were recruited in six age categories with a minimum of 20 children per category. Data on bowel habit was recorded by parents daily for 1 week. RESULTS:Stool frequency decreased with age. ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1996.tb00963.x
更新日期:1996-12-01 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:OBJECTIVES:To quantify and then reduce the number of unnecessary chest X-rays (CXR) being performed on children presenting with asthma. METHODS:A retrospective review of case notes of all children, aged 1-15 years, who presented with asthma and had a CXR performed. The setting was two General Hospitals that see all ch...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2005.00559.x
更新日期:2005-03-01 00:00:00
abstract:AIMS:To describe the incidence and persistence of suspected developmental delay (SDD) between 12 and 24 months of age and associated factors in the 2004 Pelotas Birth Cohort. METHODS:A cohort of 4262 newborns, 3907 of whose were monitored from 12 to 24 months of life. SDD was established by Battelle Screening Developm...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2010.01717.x
更新日期:2010-06-01 00:00:00
abstract::Legal and clinical complexities surrounding consent to medical treatment for trans and gender diverse (TGD) youth in Australia continue to develop. New Australian Standards of Care and Treatment Guidelines have also introduced substantial clinical developments. Significant changes to legal principles from court decisi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.15181
更新日期:2020-12-01 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:OBJECTIVE:To describe the epidemiology of shopping trolley related injuries (fatalities and hospitalizations) to children in New Zealand prior to the introduction of a voluntary standard for shopping trolleys. METHODOLOGY:To identify cases, a key word search was conducted of national mortality and hospitalization data...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00708.x
更新日期:2002-02-01 00:00:00
abstract:AIM:Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders of the immune system, most of which are curable by haematopoietic stem cell transplantation (HSCT). We present a 25-year audit of HSCT for IEI at a tertiary-level academic hospital in Malaysia. METHODS:Review of medical records of all case...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14621
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:To detail the acute and chronic paediatric service and community-orientated activities and responsibilities of community-based general paediatricians. METHODOLOGY:Data were collected over the 12 months July 1996 to June 1997 relevant to (i) acute neonatology and paediatrics, (ii) the different community paed...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1999.00339.x
更新日期:1999-02-01 00:00:00
abstract::Ecthyma gangrenosum is a manifestation of cutaneous infection by Pseudomonas aeruginosa. The lesion may be associated with immunocompromise, in particular neutropenia. We present a case of ecthyma gangrenosum in a previously healthy child who 3 months later developed acute lymphoblastic leukaemia; we use this to illus...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1999.355389.x
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVE:To study the frequency and types of adverse reactions to currently available vaccines in very preterm infants. METHODS:Case notes were obtained for very preterm infants < or =30 weeks' gestational age who received their first immunization at the Royal Women's Hospital, Melbourne, during 1999-2003. Data were ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2005.00663.x
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVES:The aims of our study were to review the Royal Children's Hospital cohort of children having thyroidectomy for thyroid nodules over the last 8 years and to report the changing pattern of thyroid cancer seen in our institution over that time. METHODS:We undertook a retrospective case-note review of all patie...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2005.00724.x
更新日期:2005-11-01 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:OBJECTIVE:To identify whether obstetric and perinatal factors are independent predictors of child behaviour at 5 years. METHODOLOGY:The Mater University Study of Pregnancy (MUSP) is a prospective cohort study of 8556 mothers enrolled in early pregnancy. The relationship of obstetric and perinatal factors, maternal lif...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1997.tb01658.x
更新日期:1997-12-01 00:00:00
abstract:AIM:Childhood overweight and obesity is unacceptably high in industrialised nations. School-based interventions have largely been atheoretical and ineffective. This study aimed to test a new theory-based protocol for its effects on measures of fitness and body mass index (BMI), and its proposed psychosocial mediators, ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,随机对照试验
doi:10.1111/jpc.13447
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:To explore the use of sun protection behaviours and the experience of sunburn in a sample of parents and their children in New Zealand. METHODOLOGY:Information was collected from 887 parents using postal questionnaires at the beginning of and during the summer. RESULTS:Thirty per cent of the parents believe...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1998.00307.x
更新日期:1998-12-01 00:00:00
abstract::The aim of this study was to call the attention to the often disregarded message that hypertransaminasemia may be a marker of both liver and muscle diseases by presenting personal case reports and a systematic literature review. Three male children (mean age 5.7 years) were inappropriately addressed, during the last 1...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2010.01730.x
更新日期:2012-10-01 00:00:00
abstract:AIM:To examine associations between socio-economic, familial and perinatal factors with overweight/obesity in 6- and 12-year-old schoolchildren. METHODS:Eligible year-1 (1765/2238, mean age 6.7 years) and year-7 students (2353/3144, mean age, 12.7 years) from a random cluster sample of 55 Sydney schools were examined ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2011.02181.x
更新日期:2012-01-01 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: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::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::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:OBJECTIVE:To examine trends in preterm births, especially those less than 33 weeks gestation, occurring in perinatal centres in New South Wales (NSW) from 1992 to 2001. METHODS:Population data were obtained from the NSW Midwives' Data Collection. Trends in the proportion of births in perinatal centres by gestation and...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00315.x
更新日期:2004-03-01 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:AIM:To better understand current attitudes and practices relating to discussions concerning the withholding and withdrawing of life-sustaining medical treatment (WWLSMT) among medical staff in the paediatric setting. METHODS:An anonymous online survey of paediatricians (senior medical staff - SMS) and paediatric train...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2008.01351.x
更新日期:2008-07-01 00:00:00
abstract:AIMS:A longitudinal birth cohort provides an opportunity to study the impact of childhood conditions persisting into adulthood. This study examines the cross-sectional association of asthma with sleep quality and snoring in the adolescent and young adult population and the extent to which asthma, sleep quality and snor...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13234
更新日期:2016-11-01 00:00:00
abstract::This study compared the prevalence of emotional and behavioural problems experienced by 10-11 year old and 14-15 year old children living in single-parent and two-parent families in South Australia. The 10-11 year old male children living in single-parent families were found to have significantly more emotional and be...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1993.tb00530.x
更新日期:1993-10-01 00:00:00
abstract::After the first year of life, injury is the leading cause of mortality in children and adolescents in Australia and a major cause of morbidity and hospitalization. Studies from Europe and North American and more recently New Zealand have demonstrated that injury rates differ between different socio-economic groups, wi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1993.tb03016.x
更新日期:1993-12-01 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::We present a case of a 2-month-old boy with partially treated meningitis and suspected Pneumocystis carinii pneumonia. A full blood count revealed profound lymphopenia. The child was diagnosed with adenosine deaminase deficiency, a rare cause of severe combined immunodeficiency (SCID). SCID is an immunological emergen...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2010.01870.x
更新日期:2011-08-01 00:00:00