Abstract:
:Pseudoxanthoma elasticum (PXE) is a hereditary disorder of elastic tissue. The characteristic skin changes are asymptomatic yellow papules around the neck and in body folds giving the skin a characteristic cobblestone appearance. The eyes, cardiovascular and gastrointestinal systems are also commonly involved. In this case-series, we present a family of four children, three of whom demonstrated diverse manifestations of PXE. The first child presented with sudden death at age 3 and showed marked coronary and renal arterial intimal fibrosis with prominent fragmentation of the internal elastic lamina, initially attributed to idiopathic arterial calcification. The second child presented with clinical features and histology of the skin typical of PXE at age 11 and the third child, with abnormal, but non-specific cardiological findings at age 8, which raised the possibility of an early stage of PXE. This report emphasizes the importance of considering pseudoxanthoma elasticum in diverse clinical settings, early diagnosis and appropriate screening for asymptomatic family members.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Sakata S,Su JC,Robertson S,Yin M,Chow Cdoi
10.1111/j.1440-1754.2006.00984.xsubject
Has Abstractpub_date
2006-12-01 00:00:00pages
817-20issue
12eissn
1034-4810issn
1440-1754pii
JPC984journal_volume
42pub_type
杂志文章abstract::Turner syndrome (TS) affects approximately 1 in 2000 liveborn girls. It is a common cause of short stature and is often, but not universally, associated with characteristic dysmorphic features and ovarian dysgenesis. Genotype/phenotype correlation in TS is generally poor and girls with TS may occasionally have normal ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01219.x
更新日期:2007-11-01 00:00:00
abstract:AIM:To describe the variation in volumes and types of paediatric presentations to a tertiary emergency department in New Zealand during the national level 4 lockdown for COVID-19. METHODS:A retrospective, comparative cohort study in Christchurch Hospital Emergency Department, New Zealand. RESULTS:There was a 37% redu...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.15347
更新日期:2021-01-15 00:00:00
abstract::The established teratogenicity of antiepileptic drugs raises important issues in women of child-bearing age. While the association between neural tube defects and antiepileptic drugs is well recognised, other congenital malformations are known to occur. We report two siblings with characteristic craniofacial features ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01176.x
更新日期:2007-09-01 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
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13027
更新日期:2016-03-01 00:00:00
abstract::The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues. No...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/jpc.13122
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to determine the applicability of the published clinical cut-off scores of the Child Behaviour Checklist (CBCL) for the classification of behaviour disorders. METHODOLOGY:Child Behaviour Checklists were obtained for 1342 subjects newly referred to the six major mental health centres...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1996.tb00939.x
更新日期:1996-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/jpc.13280
更新日期:2017-01-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,随机对照试验
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更新日期:2006-01-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00285.x
更新日期:2004-01-01 00:00:00
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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
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2006.00892.x
更新日期:2006-07-01 00:00:00
abstract::The pace of developing technology with respect to many diagnostic tests, as well as available treatments including artificial ventilation, may have progressed at a faster rate than our ethical, humane ability to decide on the optimal choices for our patients. In fact, who should make these choices; physicians or patie...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2011.02159.x
更新日期:2011-09-01 00:00:00
abstract::Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/jpc.12632
更新日期:2015-03-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13632
更新日期:2017-12-01 00:00:00
abstract:AIM:Pneumatosis intestinalis (PI) is uncommon in school-age children. We studied a cohort of neurologically impaired school-age children with PI to formulate an optimum management plan. METHODS:We retrospectively studied all school-age children who were referred to paediatric surgeons with radiological evidence of PI ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13535
更新日期:2017-07-01 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:OBJECTIVE:To determine if very low birthweight children followed with ease differ in any perinatal or sociodemographic characteristics, or outcomes, compared with children followed with more difficulty. METHODOLOGY:Consecutive children of birthweight < 1000 g or with gestational ages < 28 weeks born in 1991 (n = 51) o...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2001.00621.x
更新日期:2001-04-01 00:00:00
abstract:AIM:To determine the perceptions, attitudes and knowledge of Australian health-care workers (HCWs) regarding the novel, swine-origin influenza A (H1N1) virus (S-OIV) outbreak that reached the country in early May 2009. METHODS:Self-administered, anonymous Web-based survey conducted during the early stages of the S-OIV...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2010.01820.x
更新日期:2010-11-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14825
更新日期:2020-07-01 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
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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:OBJECTIVE:The aim of this study was to evaluate bone mineral density (BMD) in epileptic children receiving valproic acid (VPA) and to determine differences between osteopenic and non-osteopenic children. METHODS:Thirty-three epileptic children, receiving VPA for at least 6 months, were compared with 33 healthy childre...
journal_title:Journal of paediatrics and child health
pub_type: 临床试验,杂志文章
doi:10.1111/j.1440-1754.2004.00431.x
更新日期:2004-08-01 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:This study aimed to establish current management practice for patent ductus arteriosus (PDA) among individual consultant neonatologists in Australia and New Zealand, to examine the influences that drives practice and highlight the importance of future randomised controlled trials in the region. METHODS:Eligible su...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2008.01461.x
更新日期:2009-04-01 00:00:00
abstract::Modern paediatric oncology practice has rapidly evolved from a fatal condition at diagnosis in the 1940s to modern survival rates of over 80%. With the advent of the 'omics' era and modern diagnostics platforms, we can now determine many of the molecular driving mechanisms of malignancy. Current molecular diagnostics ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14325
更新日期:2019-01-01 00:00:00
abstract:AIM:To determine the rates of early intervention (EI) service use in extremely preterm (EP, <28 weeks' gestation) or extremely low birthweight (ELBW, <1000 g) infants between 1991 and 2013, and identify biological or socio-economic factors associated with receiving EI. METHODS:Participants comprised consecutive EP or ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13668
更新日期:2018-01-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.15229
更新日期:2020-10-24 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::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