85 research outputs found
Development and Preliminary Validation of an Electromyography-Scoring Protocol for the Assessment and Grading of Muscle Involvement in Patients With Juvenile Idiopathic Inflammatory Myopathies.
Abstract Introduction We performed a pilot study in order to investigate the feasibility of an electromyography (EMG)-scoring protocol for the assessment of disease activity in juvenile idiopathic inflammatory myopathies (JIIM). Methods Children with JIIM followed up in a tertiary-level care center underwent standardized clinical, laboratory, and EMG assessment. An EMG-scoring protocol was devised by a consensus panel including a pediatric neurophysiologist and two pediatric rheumatologists, based on a combined score obtained as the sum of (1) the presence of denervation signs (fibrillation potentials) and (2) motor unit remodeling (mixed pattern of short- and long-duration motor unit action potentials). The EMG-scoring protocol was then validated following the Outcome Measures in Rheumatoid Arthritis Clinical Trials filter for outcome measures in rheumatology and the consensus-based standards for the selection of health measurement instruments methodology. Results Thirteen children (77% females) were included in the study, with a median age of 10 years (interquartile range: 7-17 years) and median disease duration of 11.8 months (interquartile range: 2.1-44.5). A total of 39 EMG examinations were evaluated. A strong positive association between a standardized tool for muscle strength assessment and the combined score was observed. No significant associations were found with both creatine kinase and erythrocyte sedimentation rate levels. Discussion Our EMG-scoring protocol is the first standardized and reproducible tool for the neurophysiologic evaluation and grading of muscle involvement in patients with JIIM and could provide relevant additional information in the assessment and follow-up of these rare conditions
Lower Limb Rehabilitation in Juvenile Idiopathic Arthritis using Serious Games
Patients undergoing physical rehabilitation therapy must perform series of
exercises regularly over a long period of time to improve, or at least not to
worsen, their condition. Rehabilitation can easily become boring because of the
tedious repetition of simple exercises, which can also cause mild pain and
discomfort. As a consequence, patients often fail to follow their
rehabilitation schedule with the required regularity, thus endangering their
recovery. In the last decade, video games have become largely popular and the
availability of advanced input controllers has made them a viable approach to
make physical rehabilitation more entertaining while increasing patients
motivation. In this paper, we present a framework integrating serious games for
the lower-limb rehabilitation of children suffering from Juvenile Idiopathic
Arthritis (JIA). The framework comprises games that implement parts of the
therapeutic protocol followed by the young patients and provides modules to
tune, control, record, and analyze the therapeutic sessions. We present the
result of a preliminary validation we performed with patients at the clinic
under therapists supervision. The feedback we received has been overall very
positive both from patients, who enjoyed performing their usual therapy using
video games, and therapists, who liked how the games could keep the children
engaged and motivated while performing the usual therapeutic routine
Serious Games for Wrist Rehabilitation in Juvenile Idiopathic Arthritis
Rehabilitation is a painful and tiring process involving series of exercises
that patients must repeat over a long period. Unfortunately, patients often
grow bored, frustrated, and lose motivation making rehabilitation less
effective. In the recent years video games have been widely used to implement
rehabilitation protocols so as to make the process more entertaining, engaging
and to keep patients motivated. In this paper, we present an integrated
framework we developed for the wrist rehabilitation of patients affected by
Juvenile Idiopathic Arthritis (JIA) following a therapeutic protocol at the
Clinica Pediatrica G. e D. De Marchi. The framework comprises four video games
and a set modules that let the therapists tune and control the exercises the
games implemented, record all the patients actions, replay and analyze the
sessions. We present the result of a preliminary validation we performed with
four poliarticular JIA patients at the clinic under the supervision of the
therapists. Overall, we received good feedback both from the young patients,
who enjoyed performing known rehabilitation exercises using video games, and
therapists who were satisfied with the framework and its potentials for
engaging and motivating the patients
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs
The transfer of genomic information into the primary RNA sequence can be altered by RNA editing. We have previously shown that genomic variants can be RNA-edited to wild-type. The presence of distinct “edited” iduronate 2-sulfatase (IDS) mRNA transcripts ex vivo evidenced the correction of a nonsense and frameshift variant, respectively, in three unrelated Hunter syndrome patients. This phenomenon was confirmed in various patient samples by a variety of techniques, and was quantified by single-nucleotide primer extension. Western blotting also confirmed the presence of IDS protein similar in size to the wild-type. Since preliminary experimental evidence suggested that the “corrected” IDS proteins produced by the patients were similar in molecular weight and net charge to their wild-type counterparts, an in vitro system employing different cell types was established to recapitulate the site-specific editing of IDS RNA (uridine to cytidine conversion and uridine deletion), and to confirm the findings previously observed ex vivo in the three patients. In addition, confocal microscopy and flow cytometry analyses demonstrated the expression and lysosomal localization in HEK293 cells of GFP-labeled proteins translated from edited IDS mRNAs. Confocal high-content analysis of the two patients’ cells expressing wild-type or mutated IDS confirmed lysosomal localization and showed no accumulation in the Golgi or early endosomes
Novel heterozygous TREX1 mutation in a juvenile systemic lupus erythematosus patient with severe cutaneous involvement treated successfully with Jak-inhibitors: a case report
Juvenile systemic lupus erythematosus (jSLE) is a complex inflammatory autoimmune disorder. In the last decades, genetic factors and activation pathways have been increasingly studied to understand their potential pathogenetic role better. Genetic and transcriptional abnormalities directly involved in the type I interferon (IFN) signaling cascade have been identified through family-based and genome-wide association studies. IFNs trigger signaling pathways that initiate gene transcription of IFN-stimulated genes through the activation of JAK1, TYK2, STAT1, and STAT2. Thus, the use of therapies that target the IFN pathway would represent a formidable advance in SLE. It is well known that JAK inhibitors have real potential for the treatment of rheumatic diseases, but their efficacy in the treatment of SLE remains to be elucidated. We report the case of a 13-year-old girl affected by jSLE, carrying a novel heterozygous missense variant on Three prime Repair EXonuclease 1 (TREX1), successfully treated with baricitinib on top of mofetil mycophenolate. The TREX1 gene plays an important role in DNA damage repair, and its mutations have been associated with an overproduction of type 1 interferon. This report underlines the role of translational research in identifying potential pathogenetic pathways in rare diseases to optimize treatment
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