Search results for " Juvenile"

The Neuropsychological Profile of Infantile Duchenne Muscular Dystrophy

2011

It has been shown that children with Duchenne muscular dystrophy (DMD) exhibit specific cognitive deficits. However, the neuropsychological profile has not yet been fully characterized. In order to control for the contribution of motor impairments as a confounding variable that is usually present when assessing children with muscular pathologies, we compared children with DMD to a group of children with an autoimmune pathology that does not entail either brain or cognitive dysfunction but does imply motor impairment: juvenile rheumatoid arthritis (JRA). An extensive neuropsychological evaluation was administered, including intelligence, perception, language, memory and learning, attention, …

Identification of a novel candidate locus for juvenile idiopathic arthritis at 14q13.2 in the Latvian population by association analysis with microsa…

2010

To identify novel juvenile idiopathic arthritis (JIA) susceptibility loci, a 270 kb genomic region encompassing FAM177A1, KIAA0391, and PSMA6 genes was genotyped in 97 oligoarthritis (JIoA) and 50 polyarthritis (JIpA) patients and 230 individuals without autoimmune disorders by five microsatellites (MS) previously described as HSMS markers of the 14q13.2 region. Direct sequencing revealed two variable components of the (CAA)(n)(A)(m) motif in HSMS602 marker (FAM177A1 gene). Repeat (AC)(5)AT(AC)(n) of the HSMS701 (KIAA0391 gene) was variable in the Latvian population only in its downstream part. Allele (AC)(5)AT(AC)(15) of HSMS701 was found to be strongly associated with JIA (p = 4.91 x 10(-…

Anakinra drug retention rate and predictive factors of long-term response in systemic juvenile idiopathic arthritis and adult onset still disease

2019

Background and Objective: Only a few studies have reported long-term efficacy of interleukin (IL)-1 inhibition in systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still disease (AOSD). Herein we report on the effectiveness of anakinra (ANA), expressed in terms of drug retention rate (DRR), and evaluate the predictive factors of drug survival in a cohort of patients with sJIA and AOSD. Patients and Methods: This is a multicenter study reviewing retrospectively the medical records from 61 patients with sJIA and 76 with AOSD, all treated with ANA in 25 Italian tertiary referral centers. Results: The cumulative retention rate of ANA at 12-, 24-, 48-, and 60-month of follow-up was 7…

Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sec…

2021

Summary Background Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology cen…

Could vaccination obligations non-fulfilment be considered as juvenile maltreatment? a personal observation

2008

Minilaparoscopy-guided spleen biopsy in systemic disease with splenomegaly of unknown origin.

2002

With the advent of a minimally invasive laparoscopy technique, the advantages of diagnostic laparoscopy are being rediscovered. We report here on four patients with systemic disease of unknown origin and splenomegaly, in whom minilaparoscopy-guided splenic biopsy yielded a definitive diagnosis. Four patients with unclear systemic disease were studied using diagnostic minilaparoscopy and guided spleen biopsy, after failure of diagnostic work-up. Minilaparoscopic spleen biopsy revealed the diagnosis of a B-cell non-Hodgkin's lymphoma in two cases. In one patient, who had a history of Still's disease, the spleen biopsy showed granulocytic infiltration in the spleen typical of an acute episode …

Effect of substrate particle size on burrowing of the juvenile freshwater pearl mussel Margaritifera margaritifera

2021

AbstractJuveniles of the endangered freshwater pearl mussel (FPM,Margaritifera margaritifera) live burrowed in stream substrate for the first years of their life. Fine sediments block water exchange within substrate and may cause juvenile mortality and recruitment failure. To better understand the connection between success of juvenile FPM and substrate particle size, it would be important to understand behavioural responses of FPM to varying substrate sizes at this critical life stage. We placed newly detached FPM juveniles in a 7-mm layer of sieved sand sorted into five sizes (< 120, 120–200, 200–250, 250–500 and 500–650 µm) each with 10 replicate dishes, 10 juveniles per dish, with bu…

DEVELOPMENT AND INITIAL VALIDATION OF THE SYSTEMIC JADAS, A NEW COMPOSITE DISEASE ACTIVITY SCORE FOR SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS

2019

Background: Juvenile Arthritis Disease Activity Score (JADAS) has gained increasing popularity for the measurement of the level of disease activity in patients with juvenile idiopathic arthritis (JIA). However, so far the JADAS has been validated only in children with the non-systemic categories of JIA. Objectives: To develop and validate the systemic JADAS (sJADAS), a new version of the JADAS specific to systemic JIA (sJIA). Methods: The sJADAS is made up by adding a fifth item, named Systemic Manifestation Score (SMS), to the four items included in the original tool (physician global assessment of disease activity, parent/patient global assessment of well-being, active joint count and ery…

Rationale and evidence on the use of tocilizumab in COVID-19: a systematic review

2020

Abstract Background Tocilizumab is an IL-6 receptor-blocking agent proposed for the treatment of severe COVID-19. The aim of this systematic review was to describe the rationale for the use of tocilizumab for the treatment of COVID-19 and to summarize the available evidence regarding its efficacy and safety. Methods MEDLINE, PubMed, EMBASE, pre-print repositories (bioRxiv and medRxiv) and two trial Registries were searched for studies on the use of tocilizumab in COVID-19 or SARS-CoV-2 infection, viral pneumonia, and/or sepsis until 20th June 2020. Results We identified 3 indirect pre-clinical studies and 28 clinical studies including 5776 patients with COVID-19 (13 with a comparison group,…

Predicción de la reincidencia con delincuentes juveniles: adaptación del IGI-J

2017

[EN] The aim of this study is to determine the usefulness of the Management and Intervention Inventory for Young (IGI-J) in predicting the past recidivism in young offenders, and the implementation of appropriate intervention programs for that population. A retrospective study with a sample of 258 juvenile offenders who were serving a penal measure was performed. The instrument that evaluated the prediction of recidivism is the Youth Level of Service/Case Management Inventory (Hoge and Andrews, 2002). Its adaptation to spanish is the IGI-J (Garrido, Lopez and Silva, 2004). The results indicate that the IGI-J correctly identified 66.7% of offenders and 68.8% of non-recidivists, with an alpha…