CONTEXT The treatment of juvenile idiopathic arthritis (JIA) has changed markedly
in the last 15 years. Many children with JIA are not treated by pediatric
rheumatologists. OBJECTIVE To review the ...best evidence for the treatment of JIA. DATA SOURCES English-language trials of JIA between 1966 and 2005 were searched using
MEDLINE, EMBASE, the Cochrane database, and abstracts from recent rheumatology
and pediatric scientific meetings. STUDY SELECTION Randomized controlled trials and open studies including at least 10
patients for medications without controlled trials. DATA EXTRACTION For studies after 1997, the American College of Rheumatology Pediatric
30 outcome measure was used to define patients as responders. For older studies,
the primary response outcome measure defined by the authors was used. DATA SYNTHESIS Thirty-four controlled studies were identified. Nonsteroidal anti-inflammatory
drugs are effective only for a minority of patients, mainly those with oligoarthritis.
Intra-articular corticosteroid injections are very effective for oligoarthritis.
Methotrexate is effective for the treatment of extended oligoarthritis and
polyarthritis and less effective for systemic arthritis. Sulfasalazine and
leflunomide may be alternatives to methotrexate. Antitumor necrosis factor
medications are highly effective for polyarticular course JIA not responsive
to methotrexate but are less effective in systemic arthritis. There is a lack
of evidence for the optimal treatment of systemic and enthesitis-related arthritis. CONCLUSIONS Despite many advances in the treatment of JIA, there is still a lack
of evidence for treatment of several disease subtypes. The treatment plan
needs to be individualized based on the JIA subtype.
Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence should prompt the clinician ...to search for the underlying etiology. The aim of this review is to discuss disorders with which acro-osteolysis is associated and their distinguishing features, with a focus on the pediatric population.
A targeted literature review was performed using the term "acro-osteolysis" in combination with other key terms. The primary search results were supplemented using reference citations. Articles published prior to the year 2000 were included if they described additional associations not encountered in the more recent literature.
Genetic disorders (particularly primary hypertrophic osteoarthropathy and skeletal dysplasias) and rheumatic diseases (particularly psoriatic arthritis and systemic sclerosis) are the most frequently encountered conditions associated with acro-osteolysis in children. Hyperparathyroidism, neuropathy, local trauma and thermal injury, and spinal dysraphism should also be included in the differential diagnosis.
Although acro-osteolysis is uncommon, its presence should prompt the clinician to consider a differential diagnosis based on clinical and radiographic features.
The aim of this study was to evaluate factors associated with extracutaneous involvement (ECI) in juvenile localized scleroderma (jLS).
A prospective, multicentre, 6-month observational study was ...performed. The data collected included disease features, global assessments, and subject symptoms. Bivariate and linear multilevel regression analyses were performed.
A total of 86 jLS subjects (80% female, 80% Caucasian), median age of disease onset 7.7 years, were evaluated. Most had linear scleroderma or mixed morphea. Of the 86 subjects, 49 (57%) had 125 extracutaneous problems {median 2 interquartile range (IQR) 1, 3 per subject} from nine organ systems. Most of these subjects had multiple musculoskeletal problems. ECI was associated with more extensive cutaneous involvement, higher number of symptoms, family history of autoimmunity, and ANA and RF positivity. Subjects with ECI had higher scores for physician global assessment of damage (PGA-D), and parental global assessment of disease impact, but not baseline physician global assessment of disease activity (PGA-A). Although subjects with ECI received more MTX and glucocorticoid treatment, they had a slower reduction in PGA-A scores and symptoms over time, suggesting a poorer response to treatment. In logistic regression modelling, female sex had the largest effect on parental impact scores.
ECI occurred in the majority of subjects with jLS, and was associated with more medication use, longer treatment duration, higher PGA-D scores, and higher parental assessment of disease impact. Our findings suggest that jLS subjects with ECI have greater overall disease burden, both cutaneous and extracutaneous, and poorer response to treatment. More study of the treatment needs of this population is warranted.
Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare autosomal-dominant autoinflammatory disease of incomplete penetrance and variable expression. PAPA syndrome is the result ...of a mutation in the proline serine threonine phosphatase-interacting protein 1 (
PSTPIP1/CD2BP1
) gene located on chromosome 15, which results in an abnormal overproduction of the pro-inflammatory cytokine interleukin-1β (IL-1). This syndrome clinically manifests as early onset of recurrent episodes of acute aseptic inflammation of the joints, generally occurring in the first two decades of life, followed by manifestation of characteristic skin lesions in the third decade, after an obvious decline in the joint symptoms. Although uncommon, the potential clinical implications of PAPA syndrome warrant an appropriate diagnosis in a timely fashion.
Abstract
Objectives
To evaluate the feasibility and preliminary effectiveness of iCanCope with Pain (iCanCope), a smartphone-based pain self-management program, in adolescents with JIA. iCanCope ...featured symptom tracking, goal-setting, pain coping skills and social support.
Methods
A two-arm pilot randomized controlled trial was used to evaluate the iCanCope app compared with a version with symptom tracking only. Primary (feasibility) outcomes were: participant accrual/attrition rates, success of app deployment, acceptability and adherence. Secondary (preliminary effectiveness) outcomes were: pain intensity, pain-related activity limitations and health-related quality of life. Outcomes were assessed at baseline and 8 weeks. Adherence was defined as the proportion of completed symptom reports: ‘low’ (≤24%); ‘low-moderate’ (25–49%); ‘high-moderate’ (50–75%); or ‘high’ (76–100%). Linear mixed models were applied for preliminary effectiveness analyses as per intention-to-treat.
Results
Adolescents (N = 60) were recruited from three paediatric rheumatology centres. Rates of accrual and attrition were 82 and 13%, respectively. Both apps were deployed with high success (over 85%) and were rated as highly acceptable. Adherence was similar for both groups, with most participants demonstrating moderate-to-high adherence. Both groups exhibited a clinically meaningful reduction in pain intensity (≥1 point) that did not statistically differ between groups. There were no significant changes in activity limitations or health-related quality of life.
Conclusion
The iCanCope pilot randomized controlled trial was feasible to implement in a paediatric rheumatology setting. Both apps were deployed successfully, with high acceptability, and were associated with moderate-to-high adherence. Preliminary reductions in pain intensity warrant a future trial to evaluate effectiveness of iCanCope in improving health outcomes in adolescents with JIA.
Trial registration
ClinicalTrials.gov identifier: NCT02764346.
The focus of morbidity and mortality conferences (M&MCs) has shifted to emphasize quality improvement and systems-level care. However, quality improvement initiatives targeting systems-level errors ...are challenged by learning in M&MCs, which occurs at the individual attendee level and not at the organizational level. Here, we aimed to describe how organizational learning in M&MCs is optimized by particular organizational and team cultures.
A prospective, multiple-case study design was used. Using purposive sampling, three cases covering different medical/surgical specialties in North America were chosen. Data collection included direct observations of the M&MC, semistructured interviews with key M&MC members, and documentary information.
The role of the M&MC in all cases integrated two key concepts: recognition of system-wide trends and learning from error, at an organizational and team level. All cases provided evidence of double-loop learning and used organizational memory strategies to ensure knowledge was retained within the organization. A patient safety culture was linked to the promotion of open communication, fostering learning from adverse events.
This study describes three cases of systems-oriented M&MCs that reflected elements of organizational learning theory. The M&MC can therefore provide a context for organizational learning, allowing optimal learning from adverse events.
Methotrexate: New Uses for an Old Drug Hashkes, Philip J., MD, MSc; Becker, Mara L., MD, MSCE; Cabral, David A., MBBS ...
The Journal of pediatrics,
02/2014, Letnik:
164, Številka:
2
Journal Article
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the ...pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Using budding yeast lacking the TRNT1 homolog, CCA1, we confirm that the patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy.
•SIFD is a syndromic form of congenital sideroblastic anemia associated with immunodeficiency, periodic fevers, and developmental delay.•SIFD is due to partial loss-of-function mutations in the CCA-adding enzyme TRNT1.
PURPOSE OF REVIEWTo review the current literature of sterile bone inflammation in childhood and to evaluate the evidence for clinical care including diagnostic methods and treatment.
RECENT ...FINDINGSChronic noninfectious osteomyelitis includes several different entities marked by sterile bone inflammation associated with histologic evidence of a predominant neutrophil infiltration in the absence of autoantibodies and autoreactive T cells, some of which are associated with a genetic mutation. Whole body MRI is helpful in detecting asymptomatic lesions. Initial treatment with NSAIDs is usually sufficient to control symptoms as the bone heals. However, if the lesions persist and do not respond to first-line treatment, or involve the spine or hip, treatment with bisphosphonate will usually lead to a resolution of symptoms. Rarely, treatment with anti-TNF agents is required.
SUMMARYThis review summarizes recent information on diagnosis, treatment and prognosis of disorders involving sterile bone inflammation in childhood. It also addresses the evolving differential diagnosis for autoinflammatory disorders that include sterile bone inflammation and presents a treatment algorithm for management.
PDF
