Health-related quality-of-life measures for long-term follow-up in children after major trauma

Objective: Our objective was to review measures of health-related quality of life (HRQL) for long-term follow up in children after major trauma and to determine the measures that are suitable for a large age range, reliable and valid, and cover a substantial amount of the domains of functioning using the International Classification of Functioning, Disability, and Health (ICF) of the World Health Organization (WHO). Methods: The Medline and EMBASE databases were searched in all years up to October 2007 for generic HRQL measures suitable for children aged 5-18 years old and validated in English or Dutch. Measures were reviewed with respect to the age range for which the measure was suitable and reliability, validity, and content related to the ICF. Results: The search resulted in 1,235 hits and 21 related articles. Seventy-nine papers met the inclusion criteria, describing in total 14 measures: Child Health and Illness Profile Adolescent and Child Edition (CHIP-AE/CE), Child Health Questionnaire Child and Parent Forms (CHQCF87/PF50/PF28), DISABKIDS, Functional Status II (FS II)(R), Health Utilities Index Mark 2 (HUI 2), KIDSCREEN 52/27, KINDL, Pediatric Quality of Life Inventory (PedsQL), TNO Institute of Prevention and Health and the Leiden University Hospital (TNO-AZL), TNO-AZL Children’s Quality Of Life (TACQOL), and Youth Quality of Life Instrument-Research Version (YQOL-R). Measures that were suitable for a large age range were CHQ-PF50/PF28, DISABKIDS, FS II(R), HUI 2, KIDSCREEN, PedsQL, and TACQOL. All measures had moderate to good psychometric properties, except for CHQ-PF50/PF28, KINDL, and TACQOL, which had either low internal consistency or bad test-retest reliability. The measures that covered more than six chapters of the ICF domains were CHIP-AE/CE, CHQ-CF87/PF50, DISABKIDS, KIDSCREEN-52, PedsQL, and TACQOL. Conclusions: DISABKIDS, KIDSCREEN 52, and Peds-QL are suitable for long-term follow-up measurement of HRQL in children after major trauma. They cover a large age range, have good psychometric properties, and cover the ICF substantially

Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population

BACKGROUND: Juvenile idiopathic arthritis (JIA) is an autoimmune disease characterized by persistent chronic arthritis. Disease risk is believed to be influenced by both genetic and environmental factors. It is well established that the PTPN22 single nucleotide polymorphism (SNP) rs2476601 is associated with JIA susceptibility. It was recently reported in an Australian study that this association is restricted to females and is not observed in males. A significant source of inconsistency amongst the literature on autoimmune disease susceptibility genes stems from an inability to replicate genetic findings across different racial or ethnic groups. We therefore attempted to generate further evidence of the female-specific association of rs2476601 in a homogeneous Greek population. FINDINGS: We genotyped rs2476601 in 128 Caucasian JIA patients (70.3 % female) and 221 healthy controls (28.1 % female) from Northern Greece. Overall, PTPN22 was associated with increased risk of JIA in this Greek sample (OR = 2.3, 95 % CI 1.1 - 5.1, p = 0.038). Sex-stratified analyses showed that, once again, the risk association was restricted to females (Female: OR = 19.9, 95 % CI 1.2 - 342, p = 0.0016; Male: OR = 1.1, 95 % CI 0.3 - 3.1, p = 0.94) supporting the prior findings. CONCLUSIONS: Our data demonstrates that this sex-specific pattern of association is broadly applicable to different populations, and provides further impetus to undertake mechanistic studies to understand the impact of sex on PTPN22 in JIA

Nationwide collaborative study of HLA class II associations with distinct types of juvenile chronic arthritis (JCA) in Greece

The aim of this study was to investigate the association of different groups and subgroups of juvenile chronic arthritis (JCA) with HLA class II (DR, DI: DQ) alleles and/or haplotypes. Groups and subgroups were mainly distinguished on the basis of the type of onset, the course and complications of the disease, and some predefined disease markers according to the criteria proposed by the ILAR Standing Committee (Chile, 1994). On the basis of these criteria the following five JCA groups and their subgroups were included in the study: (1) definite systemic onset (n = 25) and systemic progressing to persistent arthritis (n = 14); (2) JCA of oligoarthritis onset (O-JCA, n = 124) and of oligoarthritis onset and course (n = 98), O-JCA of early (< 6 years) or late (> 6 years) onset (EOO-JCA n = 71 and LOO JCA n = 44), O-JCA with ANA positive (n = 69) or negative (n = 55) and O-JCA progressing to extended arthritis (n = 22); (3) JCA of polyarthritis onset (P-JCA) with rheumatic factor (RF) negative (n = 29), and P-JCA RF negative with antinuclear antibodies (ANA) positive (n = 13) or negative (n = 16); (4) JCA complicated with chronic anterior uveitis (CAU, n = 32); (5) juvenile psoriatic arthritis (n = 20). To assess the HLA allele frequencies in the above 223 Greek children with JCA, these frequencies were compared to those of 98 age-matched and 250 adult controls. The main findings were the following. A common HLA-DRB1* allele was not involved in the JCA groups and subgroups studied; on the other hand, the DQA1*0501 allele was found to be associated with different JCA groups/subgroups (Q-JCA, P-JCA RF-negative ANA-positive, JCA with CAU), probably suggesting a closer relationship of this locus with the immunogenetic background of JCA. The DPB1*0201 allele was associated with the development of either EOO-JCA or CAU. Susceptibility to CAU was stronger when the DPB1*0201 was combined with the presence of DRB1*13. Another allele, DQB1*0301, was also associated with O-JCA and CAU. Finally, no specific HLA class II allele was found to be related to the presence of ANA or psoriatic lesions or to the severity of the arthritis. Our findings suggest that the wide clinical and laboratory spectrum of JCA is associated with an immunogenetic background that is linked with HLA alleles of more than one locus. Some of them, such as the DPB1*0201 allele, confer susceptibility to certain clinical onsets and courses or complications of the disease. The rapidly advancing techniques of typing of DNA profiles may lead to more definite conclusions