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. Non-inflammatory joint stiffness or pain, carpal tunnel syndrome, trigger fingers, unexplained pain crises and short stature should all prompt consideration of a lysosomal storage disorder. Recurrent ENT infections, hepatosplenomegaly, recurrent hernias and visual/hearing impairment - especially when clustered together - are important extra-skeletal features. As diagnostic and therapeutic options continue to evolve, children with lysosomal storage disorders and their families are facing more sophisticated options for screening and treatment. The aim of this article is to highlight the paediatric presentations of lysosomal storage disorders, with an emphasis on the musculoskeletal features.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
James RA,Singh-Grewal D,Lee SJ,McGill J,Adib N,Australian Paediatric Rheumatology Group.doi
10.1111/jpc.13122subject
Has Abstractpub_date
2016-03-01 00:00:00pages
262-71issue
3eissn
1034-4810issn
1440-1754journal_volume
52pub_type
杂志文章,评审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:
更新日期:1999-08-01 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:AIM:To describe the epidemiology, immunisation status and management of children with intussusception in the Northern Territory (NT), 1993-2003. METHODS:Intussusception data were obtained from all NT hospitals using the International Classification of Diseases (ICD 9/10) codes for children under 18 years of age betwee...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2006.00844.x
更新日期:2006-05-01 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:BACKGROUND/HYPOTHESIS:Teaching hospitals affiliated with universities are now common sites for research higher degree supervision. We hypothesised that the hospital environment poses unique challenges to supervision compared with the traditional university research institute setting. AIMS:This study aimed to identify ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2012.02522.x
更新日期:2012-10-01 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:AIM:Hyperglycaemia is a common problem in very low birthweight (VLBW) preterm neonates and has been associated with an increase in intraventricular haemorrhage and mortality. There are few data to guide clinicians on the best range of blood glucose levels to aim for when treating hyperglycaemic preterm babies with insu...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01158.x
更新日期:2007-09-01 00:00:00
abstract:AIM:Acute lower respiratory infections (ALRIs) are the most common reason for hospitalisation of young children in the Northern Territory of Australia. International studies have linked vitamin D deficiency with increased risk of ALRI in paediatric populations, but this has not been explored in tropical regions such as...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12623
更新日期:2014-07-01 00:00:00
abstract::The group A streptococcus causes the widest range of disease in humans of all bacterial pathogens. Group A streptococcal diseases are more common in children than adults with diseases ranging from pharyngitis and impetigo to invasive infections and the post-streptococcal sequelae--acute rheumatic fever and acute post-...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01051.x
更新日期:2007-04-01 00:00:00
abstract:AIM:To explore clinical aspects of head injuries caused by ceiling fans in children. METHODS:Cases were identified using a sensitive search strategy of the Townsville Emergency Department information system from 1 December 2005 to 30 April 2010, and a retrospective structured medical record review was undertaken. RES...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12213
更新日期:2013-06-01 00:00:00
abstract::Respiratory syncitial virus (RSV) is a common cause of upper and lower respiratory tract infection in infants. An association between RSV bronchiolitis and cardiac arrhythmias has been described but is rare. A further case of an infant with supraventricular tachycardia in association with culture-positive respiratory ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.1993.tb00519.x
更新日期:1993-08-01 00:00:00
abstract:OBJECTIVE:To examine how changes in the rates of sudden infant death syndrome (SIDS) have varied in different income groups during a 25 year period. METHODOLOGY:Census data were obtained for five census periods (1971, 1976, 1981, 1986 and 1991) on the number of SIDS cases and inevitable deaths. Census area units (CAU)...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1995.tb00848.x
更新日期:1995-10-01 00:00:00
abstract:OBJECTIVE:To define the earliest age at which histological changes can be used to diagnose oesophagitis and to determine the relationships between clinical, endoscopic and histological features of oesophagitis in infants. METHODOLOGY:The case records and biopsies of 113 infants aged 2-18 months with clinically signifi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1997.tb01626.x
更新日期:1997-10-01 00:00:00
abstract::A 16 year old girl with an established diagnosis of tuberous sclerosis presented with a 1 year history of swelling of the left cheek. A 2 cm diameter tumour was excised which showed histological features of a solid variant of a minor salivary gland basal cell adenoma. One year later during laparotomy and excision of m...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.1991.tb00365.x
更新日期:1991-04-01 00:00:00
abstract:INTRODUCTION:Propranolol has recently emerged as an effective drug treatment for infantile haemangiomas. The side effect profile of the drug and the safety of administering propranolol in outpatient settings in this age group remain uncertain. We report our experience with 200 infants and children prescribed propranolo...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2012.02521.x
更新日期:2012-10-01 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:OBJECTIVE:To study the outcome of adolescents with chronic fatigue syndrome (CFS) following an intensive multi-disciplinary inpatient programme. METHODS:A follow-up questionnaire was distributed to all 57 adolescents who had completed the CFS inpatient programme at the Austin and Repatriation Medical Centre. RESULTS:...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00786.x
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the clinical features and outcome in girls with a vaginal foreign body. METHODS:Retrospective review of medical records of 35 girls with a vaginal foreign body seen in an outpatient clinic for paediatric and adolescent gynaecology between 1980 and 2000. RESULTS:The ages ranged from 2.6 to 9.2 ye...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2004.00338.x
更新日期:2004-04-01 00:00:00
abstract::Children are particularly vulnerable to the health effects of climate change, the biggest global health threat of the 21st century. However, the worst effects on child health can be avoided, and well-designed climate policies can have important benefits for child health and equity. We call on child health professional...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2010.01699.x
更新日期:2011-08-01 00:00:00
abstract::Eight full-term infants (mean gestation 39.9 weeks [range 37-42] and mean birthweight 3642 g [range 3060-4200]) with severe respiratory failure (median oxygenation index 28 [range 16-65] and median arterial/alveolar PO2 ratio (a/APO2) 0.094 [range 0.038-0.165]) and pulmonary barotrauma were treated with Dexamethasone,...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1991.tb00421.x
更新日期:1991-12-01 00:00:00
abstract::A child with psychotic symptoms and attention-deficit hyperactivity disorder who developed extrapyramidal symptoms while on a combination of risperidone, methylphenidate, sertraline, tropisetron and ketorolac is described herein. The extrapyramidal symptoms resolved with the administration of benztropine, an anticholi...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2002.00719.x
更新日期:2002-02-01 00:00:00
abstract:AIM:Chest compression depth (CCD) decreases significantly when performing one-handed chest compression (OHCC). We modified OHCC posture to increase CCD as follows: first, the axis of the compression hand was adjusted to the compression area; second, the opposite hand was wrapped around the elbow of the compression arm....
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14422
更新日期:2019-11-01 00:00:00
abstract:AIM:Meningitis may complicate neonatal sepsis, but there is scant evidence to inform the decision to perform a lumbar puncture (LP) and considerable variation in practice. We investigated whether inflammatory markers - C-reactive protein (CRP) and immature-to-total neutrophil ratio (ITR) - were predictive of meningitis...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13890
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To identify neonatal seizures and evaluate the efficiency of clinical observations and short duration electroencephalograms (EEG). METHODOLOGY:Sixty-three neonates were investigated using prolonged video/EEG monitoring. Patients with confirmed seizures were treated with sequential doses of phenobarbitone and...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1995.tb00872.x
更新日期:1995-12-01 00:00:00
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...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2006.00984.x
更新日期:2006-12-01 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:OBJECTIVE:To identify barriers to the use of trained interpreters in emergency department (ED) paediatric consultations. METHODS:A cross-sectional survey of non-English-speaking-background (NESB) carers who presented a child aged 14 years or less to the Fairfield Hospital ED during a 3-month period was undertaken usin...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00135.x
更新日期:2003-05-01 00:00:00
abstract::We describe three cousins who presented with agitation, dysphasia and/or coma, and developed hemiplegia following initial onset of symptoms. Two cases followed minor head injuries, two were pyrexial and two were associated with neutrophilia. Two cases required ventilatory support on the intensive care unit. Magnetic r...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01465.x
更新日期:2009-03-01 00:00:00
abstract::In families with infants between the ages of 6 and 18 months, sleep disruption can be significant, often putting parents at risk of a range of negative psychological and psychosocial consequences. Commonly prescribed sleep interventions typically involve 'extinction' methods, which require parents to completely or per...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14818
更新日期:2020-05-01 00:00:00
abstract::We report the first described case of a first rib fracture secondary to pertussis infection. An 11-year-old boy presented with sudden onset of severe right-sided pleuritic chest pain on a background of a 6 week history of a coughing illness and considerable weight loss. Pertussis was clinically suspected and proven on...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2001.00568.x
更新日期:2001-02-01 00:00:00