Usefulness of antinuclear antibody testing to screen for rheumatic diseases

OBJECTIVE: To assess the usefulness of the indirect immunofluorescence antinuclear antibody test (FANA) using human laryngeal epithelial carcinoma cells as nuclear substrate, to screen for childhood rheumatic diseases. STUDY DESIGN: A review of all FANA tests performed on children at British Columbia's Children's Hospital between 7 March 1991 and 31 July 1995. RESULTS: FANA tests were positive at titres of 1:20 or greater in 41% of all subjects tested, and in 65% of all subjects in whom the diagnosis was obtained. FANA positivity occurred in 67% of those with a rheumatic disease, compared with 64% of those with a non-rheumatic disease (p = 0.4). More girls had high titre FANA positivity than boys independent of whether or not they had a rheumatic disease (p = 0.05). At a screening serum dilution of 1:40 a positive test has a sensitivity of only 0.63, and a positive predictive value of only 0.33 for any rheumatic disease. For systemic lupus erythematosus (SLE), mixed connective tissue disease (MCTD), or overlap syndrome at a screening dilution of 1:40 the test has a very high sensitivity of 0.98, but a very low positive predictive value of only 0.10, the test having slightly better characteristics for boys than girls. CONCLUSION: Although a negative FANA test makes a diagnosis of SLE or MCTD extremely unlikely, a positive test even at moderately high titres of 1:160 or higher is found so frequently in children without a rheumatic disease that a positive result has little or no diagnostic value. It is suggested that a screening serum dilution of 1:160 or 1:320 would increase the usefulness of the test, by decreasing false positive tests, without significantly increasing false negative tests for SLE or MCTD, and would have the potential for considerable cost savings.     

Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric reflux

A 6 year old boy developed hyperammonaemic encephalopathy following a subureteric injection for treatment of vesicoureteric reflux. The hyperammonaemia may be explained by a postoperative urinary tract infection with a urea splitting organism, leading to raised urine ammonia that was absorbed easily across a dilated urinary tract. Agitation and alteration in consciousness level following a urological procedure, in a child with a dilated urinary tract, may be signs of a treatable hyperammonaemic encephalopathy.

     

Double blind placebo controlled trial of nebulised budesonide for croup

Accepted 28 August 1996
AIMS—To determine whether nebulised budesonide improves the symptoms or shortens the duration of stay of children admitted to hospital with a clinical diagnosis of croup.
METHODS—A prospective, randomised, double blind placebo controlled trial. Patients received either nebulised budesonide or placebo every 12 hours. The main outcome measures were duration of inpatient stay and croup scores at 30 minutes, one, two, four, 12, and 24hours.
RESULTS—87 patients (89 admissions) aged 7-116 months entered the trial. Nebulised budesonide was associated with a significant improvement in symptoms at 12 hours (95% confidence interval (CI) 1 to 3) and 24 hours (95% CI 0 to 3). Patients with an initial croup score above 3 demonstrated a significant improvement in symptoms at two hours (95% CI 1 to 3). Nebulised budesonide was also associated with a 33% reduction in the length of stay (95% CI 2% to 63%) when the confounding variables of age, initial croup score, and coryzal symptoms were taken into consideration.
CONCLUSIONS—Nebulised budesonide is an effective treatment for children admitted to hospital with a clinical diagnosis of croup.

     

Height and weight pattern up to 20 years after treatment for acute lymphoblastic leukaemia

OBJECTIVE—To assess height and body mass index standard deviation scores up to 20 years after treatment for acute lymphoblastic leukaemia (ALL).
SUBJECTS AND METHODS—Height and body mass index standard deviation scores were measured in 33 patients (14 boys and 19 girls) with childhood ALL at diagnosis, after the end of treatment, at final height, and at follow up 10-20 years (median, 16.2) after diagnosis. Eleven patients were treated with chemotherapy only and 22 patients were treated with chemotherapy and cranial irradiation.
RESULTS—In the chemotherapy only group, height standard deviation scores were the same at follow up as at diagnosis, but there was a significant decrease in height standard deviation scores during treatment. Mean body mass index standard deviation scores increased steadily from the start of treatment until final height and continued to increase from final height until follow up. In the cranially irradiated group, mean height standard deviation scores decreased steadily from the start of treatment until follow up. Mean body mass index standard deviation scores increased continuously from the start of treatment until final height and from final height until follow up.
CONCLUSION—Chemotherapy combined with cranial irradiation and chemotherapy alone might be persisting risk factors for obesity even after final height has been attained in patients treated for childhood ALL. Chemotherapy is a risk factor for reduced final height only when administered in combination with cranial irradiation. These problems need to be recognised and dealt with at follow up examination.

     

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??Abstract?? Allergic disorders and rheumatic diseases are two common diseases of dysregulated immune system in children?? with the feature of long disease course and easy relapse??and the incidence of the two diseases is increasing. All these features are bad for the prognosis of children with the diseases. Prior Th1/Th2 theory deemed that Th1-mediated autoimmune diseases and Th2-mediated allergic conditions are complementary both on the mechanism and incidence?? which improve patients’ outcomes with a new balance of T cell subsets. Recent studies?? however?? have served to challenge the idea that the presence of allergy and autoimmunity are mutually exclusive states and suggest that allergic diseases and rheumatic diseases are risk factors for each other. Clear understanding of the relationship between children’s rheumatic diseases and allergic disorders will have important implications for clinical treatment and diagnosis. This article clarifies the influence of allergic diseases on children’s rheumatic disease.     

Clinical utility of antinuclear antibody tests in children

Background  

Antinuclear antibody (ANA) tests are frequently used to screen children for chronic inflammatory diseases such as systemic lupus erythematosus (SLE). However, the diagnostic utility of this test is limited because of the large number of healthy children who have low-titer positive tests. We sought to determine the clinical utility of ANA tests in screening children for rheumatic disease and to determine whether there are specific signs or symptoms that enhance the clinical utility of ANA tests in children.     

MAMLD1 (CXorf6) is a New Gene for Hypospadias

MAMLD1 (mastermind-like domain containing 1), previously known as CXorf6 (chromosome X open reading frame 6), has been shown to be a causative gene for hypospadias. This is primarily based on the identification of nonsense mutations (E124X, Q197X, and R653X), which undergo nonsense mediated mRNA decay, in patients with penoscrotal hypospadias. Subsequent molecular studies have shown that the mouse homolog is transiently expressed in fetal Sertoli and Leydig cells around the critical period for sex development, and that transient knockdown of Mamld1 results in significantly reduced testosterone production in murine Leydig tumor cells. These findings suggest that the MAMLD1 mutations cause hypospadias primarily because of compromised testosterone production around the critical period for sex development.     

Radiologic investigation of rheumatic diseases

This article reviews the current use of the wide variety of imaging modalities now available, presenting the imaging features of common and important causes of acute and chronic rheumatic disorders including juvenile idiopathic arthritis, spondyloarthropathies/enthesitis-related arthritis, sepsis, autoimmune diseases, vasculitis, and osteoporosis.     

A call for action: Recommendations to improve transition to adult care for youth with complex health care needs

Youth with complex health care needs, defined as those requiring specialized health care and services for physical, developmental, and/or mental health conditions, are often cared for by paediatricians and paediatric specialists. In Canada, the age at which provincial/territorial funders mandate the transfer of paediatric care to adult services varies, ranging between 16 and 19 years. The current configuration of distinct paediatric and adult care service boundaries is fragmentary, raising barriers to continuity of care during an already vulnerable developmental period. For youth, the lack of care integration across sectors can negatively impact health engagement and jeopardize health outcomes into adulthood. To address these barriers and improve transition outcomes, paediatric and adult care providers, as well as family physicians and other community partners, must collaborate in meaningful ways to develop system-based strategies that streamline and safeguard care for youth transitioning to adult services across tertiary, community, and primary care settings. Flexible age cut-offs for transfer to adult care are recommended, along with considering each youth’s developmental stage and capacity as well as patient and family needs and circumstances. Specialized training and education in transitional care issues are needed to build capacity and ensure that health care providers across diverse disciplines and settings are better equipped to accept and care for young people with complex health care needs.     

Maximizing the impact of the Canada Child Benefit: Implications for clinicians and researchers

Child poverty remains a persistent problem in Canada and is well known to lead to poor health outcomes. The Canada Child Benefit (CCB) is a cash transfer program in effect since 2016, which increased both the benefit amount and number of families eligible for the previous child benefit. While the CCB has decreased child poverty rates, not all eligible families have participated. Clinicians can play an important role in screening for uptake of the program and helping families navigate the application process through several free resources. While prior research on past programs has shown benefit of similar cash transfer programs to both child and parental outcomes (both health and social), the CCB has not yet been extensively studied. Research would be valuable in both assessing the cost effectiveness of the program, especially across different income groups, and improving implementation in hard-to-reach populations.     

自身抗体在风湿性疾病中的意义

自身免疫是泛指机体免疫系统针对自身抗原成分发生免疫应答,产生了针对自身成分的抗体和(或)致敏的淋巴细胞性免疫应答的现象。自身抗体的分析在临床应用主要有4个方面：(1)诊断风湿性疾病;(2)动态观察病情、疗效及判断愈后;(3)为不同疾病的鉴别诊断提供客观依据;(4)研究免疫病理机制和流行学调查。