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 cases of IEI who underwent HSCT between January 1993 and December 2018 at our centre. Diagnoses, complications, HSCT protocols and outcome data were studied. RESULTS:There were 20 patients (19 boys) with a median age at diagnosis of 11 months (range: 2 months to 12 years). Eleven of 19 (58%) had malnutrition at presentation. Donor sources were variable: 13 (65%) matched sibling donor (MSD), 4 (20%) human leukocyte antigen-haploidentical donor (HD) and 3 (15%) matched unrelated donor (MUD). Conditioning regimens were physician-dependent and adapted to each patient's clinical status. Grades III-IV acute graft-versus-host disease occurred in two of three cases who received MUD grafts, 50% in those who received HD, and 8% in the MSD group. Transplant-related mortality at day +100 was 5%. With a median follow-up of 7.5 years, 18 (90%) patients are alive and free of infections. CONCLUSION:Outcome of HSCT for IEI in our centre is comparable with international reports. HSCT results using HD and MUD grafts are also good despite challenges from acute graft-versus-host disease, providing a feasible alternative for patients without matched donors.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Ariffin H,Ab Rahman S,Jawin V,Foo JC,Amram NF,Mahmood NM,Yap TY,Rajagopal R,Lum SH,Chan LL,Lin HPdoi
10.1111/jpc.14621subject
Has Abstractpub_date
2020-03-01 00:00:00pages
379-383issue
3eissn
1034-4810issn
1440-1754journal_volume
56pub_type
杂志文章abstract：AIM:According to the hyperfiltration hypothesis, a low nephron endowment will lead to hyperfiltration in the remaining glomeruli and is associated with systemic hypertension, proteinuria and glomerulosclerosis. Being born with one functioning kidney instead of two, for instance because of unilateral renal agenesis or m...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2008.01315.x
更新日期：2008-06-01 00:00:00
abstract：:Oesophageal atresia and tracheo-oesophageal fistula are congenital anomalies of the oesophagus requiring surgical repair in infancy, either by open or thoracoscopic approach. Although mortality rates associated with this procedure are low, children may go on to have complications throughout childhood and into adulthoo...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章,评审
doi：10.1111/jpc.13211
更新日期：2016-07-01 00:00:00
abstract：AIM:To identify opportunities to improve health-care delivery for urban Aboriginal and Torres Strait Islander children requiring hospital admission and to determine their characteristics. METHODS:We analysed all documentation of admissions of Aboriginal and/or Torres Strait Islander children to a tertiary paediatric h...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.12756
更新日期：2015-05-01 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
abstract：AIM:Currently, the use of upper limb botulinum toxin-A (UL BTX-A) is based on evidence of functional efficacy without supporting evidence of positive change in health-related quality of life (HRQOL). While function may improve, this cannot be directly correlated with an improvement in HRQOL. Most paediatric studies use...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章,随机对照试验
doi：10.1111/j.1440-1754.2008.01319.x
更新日期：2008-07-01 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：AIM:The study aims to investigate the prevalence of off-label prescribing in the general paediatric ward at a major teaching hospital in Tasmania, Australia. METHOD:The drug charts and medical records from two groups of 150 consecutive paediatric patients, admitted 6 months apart in July 2009 and January 2010, were st...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.12065
更新日期：2013-01-01 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：:Asthma is responsible for much morbidity and mortality, which might be decreased by increasing parental and patient knowledge about asthma. This report describes the development and validation of an asthma knowledge questionnaire for use in the assessment of asthma knowledge. Two groups of respondents were examined. O...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1990.tb02429.x
更新日期：1990-08-01 00:00:00
abstract：:Venous thromboembolism (VTE) is rare in children and young adolescents, and occurs predominantly in those with congenital heart disease in whom guidelines exist for VTE prophylaxis. For other paediatric patients, the rarity of the event makes writing an evidence-based clinical practice guideline difficult because each...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2009.01686.x
更新日期：2010-06-01 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：:Meningococcus is a well known cause of meningitis and septicaemia. It is less well known as a cause of arthritis. This case report describes an infant with meningococcal arthritis and with further discussion of the role of meningococcal serogroup W135 in disease, as well as current and future immunisation strategies. ...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2009.01607.x
更新日期：2009-12-01 00:00:00
abstract：:Ultrasound techniques have been developed since the past century and are becoming more useful in different areas of medical knowledge. More recently, lung ultrasound gained importance throughout artefacts analysis to help clinical evaluation at bedside and became subject of interest in the paediatric intensive care an...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章,评审
doi：10.1111/jpc.14067
更新日期：2018-09-01 00:00:00
abstract：AIM:Upper gastrointestinal (UGI) contrast study is the preferred radiological investigation to diagnose malrotation of intestine. We aimed to review the role of UGI contrast in neonates (term and preterm) who were clinically suspected to have malrotation. METHODS:The study included a retrospective review of medical ch...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.13515
更新日期：2017-07-01 00:00:00
abstract：OBJECTIVE:To assess the diagnostic error rate among echocardiograms undertaken by individuals other than paediatric cardiologists in our referral area. METHODOLOGY:External group: The charts and echocardiographic results of all patients who had undergone outside echocardiograms between January 1996 and December 1999 w...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1046/j.1440-1754.2001.00695.x
更新日期：2001-08-01 00:00:00
abstract：:Drowning is a leading cause of death among infants and toddlers. Unique physiological and behavioural factors contribute to high mortality rates. Drowning incidents predominantly occur during warmer months and holidays. Recent studies link high socio-economic status and drowning, in contrast to earlier studies. Cardia...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章,评审
doi：10.1111/jpc.13325
更新日期：2016-10-01 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：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：:This study documents the neurodevelopmental outcome at 3 years of 52 of 55 extremely low birthweight (ELBW) survivors (survival rate 49%) born in a tertiary maternity centre from July 1985 through December 1988, and examines more closely the developmental profile of the neurologically normal survivors. At 3 years, 6 (...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1993.tb00511.x
更新日期：1993-08-01 00:00:00
abstract：AIM:Left vocal cord paralysis (LVCP) is variably reported post ligation of patent ductus arteriosus (PDA). Our objective was to determine the incidence of LVCP and identify predictive factors and associated morbidities in preterm infants post PDA ligation. METHODS:This is a retrospective cohort study of infants less t...
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:Studies have shown increasing Internet use for health information. We aimed to broadly examine parents' utilisation of information sources for their children's health, their trust in them and to define the role of the Internet for children's health information METHODS:Interview of a convenience sample of parents o...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.2008.01322.x
更新日期：2008-07-01 00:00:00
abstract：OBJECTIVE:To evaluate the role of transient evoked otoacoustic emission (TEOAE) in screening very low birthweight (VLBW) neonatal intensive care unit (NICU) graduates for hearing loss in comparison with visual reinforcement orientation audiology (VROA) at 10 months. METHODOLOGY:The study population was all VLBW neonat...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1046/j.1440-1754.1998.00271.x
更新日期：1998-10-01 00:00:00
abstract：AIM:To quantify the frequency of emergency department (ED) presentations and profile the socio-demographic, health and presentation characteristics of paediatric ED frequent presenters. METHODS:A population-based data linkage study of 55 921 children in the South Australian Early Childhood Data Project aged 0-12 years...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.15119
更新日期：2021-01-01 00:00:00
abstract：AIM:To compare adverse medication events (AMEs) reported in children, via the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) coding with events reported via other data sources. METHOD:AME reports were retrieved using codes Y40-Y59 and X40-X44 over 6 months. Pati...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.12684
更新日期：2014-12-01 00:00:00
abstract：OBJECTIVE:To explore the opinions of non-tertiary obstetricians towards the care and outcome of extremely premature infants. METHODS:A structured questionnaire was mailed nationally to 232 obstetricians affiliated to maternity facilities with Level II nurseries. RESULTS:The overall response rate was 75% (n = 174) aft...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1046/j.1440-1754.2003.00187.x
更新日期：2003-08-01 00:00:00
abstract：AIM:Nutritional vitamin B12 deficiency among children in developing countries may lead to a severe clinical status. In this article, the clinical manifestations of vitamin B12 deficiency and the consequences of delay in its diagnosis have been evaluated. METHODS:A total of 41 patients who were hospitalised and treated...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.12292
更新日期：2013-10-01 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：:There is increasing evidence that hyperthermia can occur in cool climates because of overwrapping and that this practice precedes many deaths labelled as SIDS. We have attempted to test the hypothesis that the interaction of a cold face and a hot body might lead to further hyperthermia in a piglet model. Twelve non-se...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/j.1440-1754.1992.tb02730.x
更新日期：1992-01-01 00:00:00
abstract：:The anatomical relationships of the middle ear, the mastoid air cells, the temporal bone and intracranial structures can lead to invasive infections. Acute mastoiditis is the most common intratemporal complication of acute otitis media. Timely management includes antimicrobial therapy, imaging including ultrasound and...
journal_title：Journal of paediatrics and child health
pub_type： 杂志文章
doi：10.1111/jpc.12170
更新日期：2013-09-01 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
