The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD).
This was a retrospective French and Belgian study of patients identified on the basis of ...MKD gene mutations.
Fifty patients from 38 different families were identified, including 1 asymptomatic patient. Symptoms began during the first 6 months of life in 30 patients (60%) and before the age of 5 years in 46 patients (92%). Symptoms consisted of febrile diarrhea and/or rash in 23 of 35 patients (66%). Febrile attacks were mostly associated with lymphadenopathy (71%), diarrhea (69%), joint pain (67%), skin lesions (67%), abdominal pain (63%), and splenomegaly (63%). In addition to febrile attacks, 27 patients presented with inflammatory bowel disease, erosive polyarthritis, Sjögren syndrome, and other chronic neurologic, renal, pulmonary, endocrine, cutaneous, hematologic, or ocular symptoms. Recurrent and/or severe infections were observed in 13 patients, hypogammaglobulinemia in 3 patients, and renal angiomyolipoma in 3 patients. Twenty-nine genomic mutations were identified; the p.Val377Ile mutation was the most frequently found (29 of 38 families). Three patients died of causes related to MKD. The disease remained highly active in 17 of the 31 surviving symptomatic patients followed up for >5 years, whereas disease activity decreased over time in the other 14 patients. Interleukin 1 antagonists were the most effective biological agents tested, leading to complete or partial remission in 9 of 11 patients.
MKD is not only an autoinflammatory syndrome but also a multisystemic inflammatory disorder, a possible immunodeficiency disorder, and a condition that predisposes patients to the development of renal angiomyolipoma.
Fast and very fast transient overvoltages generally appear during switching operations within electrical substations. The oscillatory nature of such phenomena with frequencies that can reach several ...tens of megahertz tends to degrade the lifetime of high voltage equipment such as bushings and transformers, inducing partial discharges activity or breakdown of the insulation system. According to several case studies, bushings are one of the most sensitive parts to such overvoltages, indeed, a failure in a bushing will in most cases lead to a failure of the transformer, often catastrophically. Generating such overvoltages with a very high frequency character and considerable amplitude can be very difficult, moreover, studying the effect of such overvoltages on the insulated bushings is not easy, even experimentally. Therefore, a simulation of the fast transients in the system can be very useful to understand the consequences of such phenomena. In this context, this document aims to propose a model of high voltage capacitive graded oil impregnated paper (OIP) bushing based on a distributed electrical circuit. The equivalent circuit is constructed based on the geometric design and electrical properties of the materials. The model was developed and implemented using Matlab/Simulink® software, and was validated with experimental measurements based on impedance sweep frequency analysis. The modeling results are in a good agreement with the experimental ones.
Objective:
The SARS-CoV-2 pandemic has induced an exceptional sanitary crisis, potentially having an impact on treatment continuation, for juvenile idiopathic arthritis (JIA) patients receiving ...immunosuppressive therapies. After national lockdowns, many patients were also concerned about their safety at school. We evaluated the impact of the pandemic on the optimal continuation of treatment and on the return to school in JIA patients.
Methods:
JIA patients under 18 years of age, usually treated with disease-modifying anti-rheumatic drugs (DMARDs) were prospectively included during their outpatient visit and completed a standardized questionnaire. The primary outcome was DMARD treatment modification in relation to the context of the pandemic but we also evaluated the pandemic's impact on the schooling.
Results:
One hundred and seventy three patients from 8 different expert centers were included between May and August 2020. Their mean age was 11.6 years (± 4.1 years), and most of them 31.2% (54/173) had a rheumatoid factor-negative polyarticular JIA. Fifty percent (86/172) were treated with methotrexate, and 72.5% (124/171) were treated with bDMARDs. DMARD treatment modification in relation to the pandemic was observed in 4.0% (7/173) of participants. 49.1% (81/165) of the patients did not return to school due to a personal/parental decision in 69.9% (55/81) of cases. Two patients were diagnosed positive for SARS-CoV-2 infection.
Conclusion:
This study suggests that JIA patients treated with DMARDs continued their treatment during the pandemic and were rarely affected by symptomatic COVID-19. In contrast, parents' reluctance was a major obstacle for returning to school. Therefore, more solidified school reopening strategies should be developed.
Klebsiella oxytoca is known to be a pathogen in immunodeficient adults and children. Here we report the first case of a K. oxytoca infection associated with spontaneous arthritis of the knee in a ...child with no history of immunosuppressive therapy or previous bacterial infections. Despite an initial antibiotic treatment failure, a second treatment led to a cure of the infection with no joint sequelae.
Delays in finding inpatient beds and transferring patients lead to overcrowding in the Emergency Department (ED).
The emergency nurse coordinator role was implemented in the general or adult ED to ...optimize patient flow, but few studies are available for pediatric hospitals.
The aim was to assess the impact of a pediatric emergency nurse coordinator and an ED porter on the ED length of stay for inpatients.
A retrospective before-after study was conducted in a pediatric hospital. ED inpatient length of stay was compared between December 2015 and December 2016. The probability to get an ED length of stay below the median was modeled in multivariate analysis.
A pediatric emergency nurse coordinator and ED porter were implemented in 2016.
1086 hospitalized children were included. The ED length of stay was significantly longer in 2016 (median: 5.5 h, IQR: 3 h and 49 min, 7 h and 22 min) than in 2015 (median: 4.8 h, IQR: 3 h and 19 min, 6 h and 18 min). The year 2015 (OR 1.56, 95% CI 1.1, 2.2), the absence of imaging, the absence of aerosol and IV drug administration, the number of hospitalizations on the day below the median, type of hospitalization unit, and the age of children younger than 1 years old were associated with a shorter ED length of stay (below the median) in the multivariate analysis.
Our study did not confirm the advantages of these two professionals in our pediatric ED.
•Delays in finding beds and transferring patients contribute to ED overcrowding.•The emergency nurse coordinator was developed to optimize patient flow.•Few studies are available for pediatric hospitals.•A nurse coordinator and porter were implemented in our pediatric ED.•We did not confirm the advantages on ED length of stay for inpatients.
During the first years of life, infant crying is a common trigger of abusive head trauma (AHT). Emergency department (ED) use by AHT victims before visits for child abuse symptoms is not well known, ...particularly for infant crying. Furthermore, diagnosis could be missed. In the same period, fever is a common reason for hospitalization unconnected with AHT. The main goal of our study was to compare the ED use by AHT victims before visits for child abuse symptoms and by children of the same age hospitalized for fever.
We conducted a retrospective case-control study from 2011 to June 2018 in a French hospital. We compared cases of AHT selected using the International Classification of Diseases and control subjects hospitalized in the general pediatric unit for fever without immunodeficiency matched in age. Univariate and multivariate analyses were performed.
Among the 75 victims of AHT, 5 had at least 1 previous ED visit not linked with abuse. None had visited for infant crying. Among the control subjects, 34 had at least 1 previous ED visit, including 6 for infant crying. Among the 57 dyads of controls and cases living in the hospital's area, the controls had significantly more previous ED visits than the cases (P < 0.001). There were more male infants among the cases (72% vs. 55%, P = 0.033).
Our study suggests that AHT victims had no more ED visits before visits for child abuse symptoms, particularly not for infant crying.
To assess the efficacy of the interleukin 1 receptor antagonist anakinra in systemic-onset juvenile idiopathic arthritis (SJIA).
A multicentre, randomised, double-blind, placebo-controlled trial was ...conducted. The primary objective was to compare the efficacy of a 1-month treatment with anakinra (2 mg/kg subcutaneous daily, maximum 100 mg) with a placebo between two groups each with 12 patients with SJIA. Response was defined by a 30% improvement of the paediatric American College of Rheumatology criteria for JIA, resolution of systemic symptoms and a decrease of at least 50% of both C-reactive protein and erythrocyte sedimentation rate compared with baseline. After month 1 (M1), patients taking placebo were switched to anakinra. Secondary objectives included tolerance and efficacy assessment for 12 months, and analyses of treatment effect on blood gene expression profiling.
At M1, 8/12 responders were receiving anakinra and 1 responder receiving placebo (p=0.003). Ten patients from the placebo group switched to anakinra; nine were responders at M2. Between M1 and M12, six patients stopped treatment owing to an adverse event (n=2), lack of efficacy (n=2) or a disease flare (n=2). Blood gene expression profiling at enrollment and at 6 months' follow-up showed one set of dysregulated genes that reverted to normal values in the clinical responders and a different set, including interferon (IFN)-inducible genes, that was induced by anakinra.
Anakinra treatment is effective in SJIA, at least in the short term. It is associated with normalisation of blood gene expression profiles in clinical responders and induces a de novo IFN signature.
NCT00339157.
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