Search

Introduction: Sarcoidosis is a systemic granulomatosis that can be associated with large-scale physical and mental disability, affecting the health related quality-of-life (HRQoL) of patients., Aim: To evaluate the HRQoL of tunisian patients with sarcoidosis and to identify the factors that influence it., Methods: We conducted an analytical, cross-sectional study collecting 31 patients with sarcoidosis according to the ATS/ERS/WASOG criteria. The evaluation of the HRQoL was assessed by two questionnaires in tunisian dialect. The generic score was the Medical Outcome Study 36-Short Form Health Survey (SF-36).The specific score used was the Sarcoidosis Health Questionnaire (SHQ)., Results: The HRQoL of our 31 patients was more affected in the three domains of the SHQ compared to the SF-36, which is in favor of the better sensitivity of the SHQ to detect the influence of the extent of sarcoidosis on the HRQoL. Factors associated with more impaired HRQoLwere: age at disease onset, age at interview, comorbidities, altered spirometry results, ocular involvement, chronic cholestasis, splenic nodules, arthralgia, organ count ≥3, lymphopenia and cholestasis at the time of the interview. Taking an immunosuppressant agent, particularly Methotrexate, was associated with HRQoL improvement. The number of relapses was the most correlated factor with an altered HRQoL, and this in several domains., Conclusion: For an effective management of patients with sarcoidosis, a bio-psycho-social approach is now necessary in order to assess the real and global impact of the disease and to improve the HRQoL of patients. Disease-specific scores seem more reliable in achieving these goals.

Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb spasticity. Gaucher disease is a lysosomal storage disease resulting from a defect in the enzyme acid β-glucosidase 1. β-glucosidase 2 is an enzyme with similar glucosylceramidase activity but to date has not been associated with a monogenic disorder. We studied four unrelated consanguineous families of Tunisian decent diagnosed with cerebellar ataxia of unknown origin. We performed homozygosity mapping and whole-exome sequencing in an attempt to identify the genetic origin of their disorder. We were able to identify mutations responsible for autosomal-recessive ataxia in these families within the gene encoding β-glucosidase 2, GBA2. Two nonsense mutations (c.363C>A [p.Tyr121(∗)] and c.1018C>T [p.Arg340(∗)]) and a substitution (c.2618G>A [p.Arg873His]) were identified, probably resulting in nonfunctional enzyme. This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans., (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)