Abstract Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory arthropathy of childhood. Juvenile idiopathic arthritis is believed to be a complex genetic trait influenced by ...both genetic and environmental factors. Twin and family studies suggest a substantial role for genetic factors in the predisposition to JIA. Describing the genetics is complicated by the heterogeneity of JIA; the International League of Associations for Rheumatology (ILAR) has defined seven categories of JIA based on distinct clinical and laboratory features. Utilizing a variety of techniques including candidate gene studies, the use of genotyping arrays such as Immunochip, and genome wide association studies (GWAS), both human leukocyte antigen (HLA) and non-HLA susceptibility loci associated with JIA have been described. Several of these polymorphisms (e.g. HLA class II , PTPN22, STAT4 ) are shared with other common autoimmune conditions; other novel polymorphisms that have been identified may be unique to JIA. Associations with oligoarticular and RF-negative polyarticular JIA are the best characterized. A strong association between HLA DRB1 : 11:03/04 and DRB1:08:01 , and a protective effect of DRB1:15:01 have been described. HLA DPB1:02:01 has also been associated with oligoarticular and RF-negative polyarticular JIA. Besides PTPN22 , STAT4 and PTPN2 variants, IL2, IL2RA, IL2RB , as well as IL6 and IL6R loci also harbor variants associated with oligoarticular and RF-negative polyarticular JIA. RF-positive polyarticular JIA is associated with many of the shared epitope encoding HLA DRB1 alleles, as well as PTPN22, STAT4 and TNFAIP3 variants. ERA is associated with HLA B27. Most other associations between JIA categories and HLA or non-HLA variants need confirmation. The formation of International Consortia to ascertain and analyze large cohorts of JIA categories, validation of reported findings in independent cohorts, and functional studies will enhance our understanding of the genetic underpinnings of JIA.
Abstract Background Despite over 500,000 adolescents with special health care needs transitioning to adulthood each year, limited information is available on their health status or their access to ...care after transition. Objective To describe the change in health status and access to care of a nationally sampled, longitudinal cohort of young adults with special health care needs (ASHCN). Methods We analyzed follow-up data collected in the 2007 Survey of Adult Transition and Health on young adults who were 14–17 years of age when their parents participated in the 2001 National Survey of Children with Special Health Care Needs. We describe changes in access to care and health status over time, and used logistic regression to identify characteristics that were associated with declining health status in this cohort. Results 1,865 participants, aged 19–23 years, completed the Survey of Adult Transition and Health. Between 2001 and 2007, there was a 3.6 fold increase in the proportion experiencing delayed or forgone care; 10% reported a decline in health status. There was a 7.7-fold increase in the proportion reporting no insurance. In regression analysis, factors associated with declining health status between 2001 and 2007 included underlying disease severity and delayed or forgone care in young adulthood. Conclusions We found significant deterioration in insurance coverage, usual source of care and receiving timely health care as ASHCN aged into adulthood, and that this was associated with decline in health status. Our findings suggest that further population-based analyses of health outcomes are needed to plan for interventions to assist this vulnerable population.
Background
Individuals with childhood-onset systemic lupus erythematosus (cSLE) must transfer from pediatric to adult care. The goal of this study was to examine disease activity and health-care ...utilization among young adults with cSLE who are undergoing or have recently completed the transfer to adult care.
Methods
The Pediatric Lupus Outcomes Study (PLOS) is a prospective longitudinal cohort study of young adults aged 18–30 diagnosed with cSLE. We conducted a cross-sectional analysis comparing 47 participants under the care of pediatric rheumatologists to 38 who had completed transfer to adult care. Demographics, disease manifestations, health- care utilization and transition readiness were compared between groups.
Results
Those in the post-transfer group had significantly lower medication usage and were less likely to have seen a rheumatologist in the past year. Disease manifestations, flare rates, and hospitalizations were similar between groups. Nearly a quarter of patients who had transferred to adult care reported difficulties with the process.
Conclusion
Post-transfer patients had lower health-care utilization as evidenced by less medication usage and lack of rheumatology follow-up, in spite of the fact that disease activity was similar in both groups. Future studies will assess longitudinal changes in disease activity and damage in this population.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Objective
To examine childhood‐onset disease as a predictor of mortality in a cohort of adult patients with systemic lupus erythematosus (SLE).
Methods
Data were derived from the University of ...California Lupus Outcomes Study, a longitudinal cohort of 957 adult subjects with SLE that includes 98 subjects with childhood‐onset SLE. Baseline and followup data were obtained via telephone interviews conducted in 2002–2007. The number of deaths during 5 years of followup was determined and standardized mortality ratios (SMRs) for the cohort, and across age groups, were calculated. Kaplan‐Meier life table analysis was used to compare mortality rates between childhood‐ (defined as SLE diagnosis at <18 years of age) and adult‐onset SLE. Multivariate Cox proportional hazard models were used to determine predictors of mortality.
Results
During the median followup period of 48 months, 72 deaths (7.5% of subjects) occurred, including 9 deaths (12.5%) in subjects with childhood‐onset SLE. The overall SMR was 2.5 (95% confidence interval 95% CI 2.0–3.2). In Kaplan‐Meier survival analysis, after adjusting for age, childhood‐onset subjects were at increased risk for mortality throughout the followup period (P< 0.0001). In a multivariate model adjusting for age, disease duration, and other covariates, childhood‐onset SLE was independently associated with an increased mortality risk (hazard ratio HR 3.1, 95% CI 1.3–7.3), as was low socioeconomic status measured by education (HR 1.9, 95% CI 1.1–3.2), and end stage renal disease (HR 2.1, 95% CI 1.1–4.0).
Conclusion
Childhood‐onset SLE was a strong predictor of mortality in this cohort. Interventions are needed to prevent early mortality in this population.
Systemic lupus erythematosus (SLE) is the prototypic autoimmune condition, often affecting multiple organ systems, including the skin. Cutaneous lupus erythematosus (CLE) is distinct from SLE and may ...be skin limited or associated with systemic disease. Histopathologically, the hallmark of lupus-specific manifestations of SLE and CLE is an interface dermatitis. The cause of SLE and CLE is likely multifactorial and may include shared genetic factors. In this review, we will discuss the genetic findings related to the cutaneous manifestations of SLE and isolated CLE, with a particular focus on the lupus-specific CLE subtypes.
Several major histocompatibility complex and nonmajor histocompatibility complex genetic polymorphisms have been identified which may contribute to the cutaneous manifestations of SLE and to CLE. Most of these genetic variants are associated with mechanisms attributed to the pathogenesis of SLE, including pathways involved in interferon and vitamin D regulation and ultraviolet light exposure. Although there is overlap between the genetic factors associated with SLE and CLE, there appear to be unique genetic factors specific for CLE.
Improved understanding of the genetics of CLE may lead to the creation of targeted therapies, improving outcomes for patients with this challenging dermatologic condition.
Patient-reported outcome (PRO) measures provide a valuable window into how patients with juvenile idiopathic arthritis and their parents perceive their functioning, quality of life, and medication ...side effects in the context of their disease and treatment. Momentum behind adoption of PRO measures is increasing as these patient-relevant tools capture information pertinent to taking a patient-centered approach to health care and research. This article reviews the clinical and research utility of obtaining PROs across domains applicable to the experience of juvenile idiopathic arthritis and summarizes available self-report and parent-proxy PRO measures. Current challenges and limitations of PRO usage are discussed.
Autoimmune encephalitis is an increasingly recognized entity in children. When treated promptly, favorable outcomes are seen in a majority of pediatric patients. However, recognition of autoimmune ...encephalitis in young patients is challenging. Once autoimmune encephalitis is suspected, additional difficulties exist regarding timing of treatment initiation and duration of treatment, as evidence to guide management of these patients is emerging. Here, we review available literature regarding pediatric autoimmune encephalitis and present our institution's comprehensive approach to the evaluation and management of the disease. These guidelines were developed through an iterative process involving both pediatric neurologists and rheumatologists.
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