Publications by authors named "Francis Gaches"
Introduction: Gaucher disease type 1 (GD1) is a rare genetic lysosomal storage disorder. Eliglustat is a first-line oral therapy for adult patients with GD1. The aim of the ELIPRO (ELIglustat Patient Reported Outcomes) study was to assess real-world outcomes of eliglustat treatment for over 1 year in patients with GD1, with a focus on patient-reported outcomes (PROs), including treatment adherence.
View Article and Find Full Text PDFArticle Synopsis
- A study compared two ways of giving a medicine called tocilizumab to patients with a disease called Takayasu arteritis (TAK).
- They looked at 109 patients from different countries and found that both methods worked similarly well after 6 months, with about 69% showing improvement.
- However, patients who got tocilizumab as a shot under the skin had a higher chance of getting worse again compared to those who received it through an IV.
Introduction: An association of systemic sclerosis (SSc) with cryoglobulin and/or cryofibrinogenemia has been described. However, clinical, biological, morphological and prognostic implications are unknown. The objective of this study was to describe the phenotype and evaluate the prognosis of cryoglobulinemia and/or cryofibrinogenemia in the progression of SSc.
View Article and Find Full Text PDFBackground: Systemic sclerosis (SSc) is associated with a variability of mortality rates in the literature.
Objective: To determine the mortality and its predictors in a long-term follow-up of a bi-centric cohort of SSc patients.
Methods: A retrospective observational study by systematically analyzing the medical records of patients diagnosed with SSc in Toulouse University Hospital and Ducuing Hospital.
Article Synopsis
- This study evaluates the safety and effectiveness of TNF-α antagonists and tocilizumab in treating Takayasu arteritis (TAK) in 209 patients, primarily young women.
- Results show that both treatment options achieved a high rate of complete response (66% for TNF-α and 70% for tocilizumab) after 6 months, although older age was positively correlated with response while certain baseline symptoms were negatively associated.
- The incidence of treatment relapses and adverse effects was similar for both therapies, indicating that they are equally effective for managing refractory TAK over a median follow-up of 36 months.
Fabry disease is a frequent lysosomal storage disorder secondary to the deficiency of alpha-galactosidase A enzyme. This X-linked genetic disease realizes progressive and systemic manifestations that affect both male and female. Fabry disease may present as "classical", as "late-onset" or "non-classical" forms.
View Article and Find Full Text PDFArticle Synopsis
- Gaucher disease (GD) is a rare genetic disorder linked to a deficiency in the enzyme glucocerebrosidase, which can lead to immunoglobulin abnormalities like polyclonal and monoclonal gammopathy in patients.
- A study examined 278 GD patients over an average of 19 years, finding that nearly half exhibited polyclonal gammopathy and about a third showed monoclonal gammopathy, with age at diagnosis being a significant risk factor for developing monoclonal gammopathy.
- The research concluded that while immunoglobulin abnormalities occur commonly in GD, they are not linked to the severity of the disease, but ongoing monitoring is essential due to the potential risk of hematologic cancers developing in these patients.
Objectives: To assess the efficacy of tocilizumab in patients with Takayasu arteritis (TA).
Methods: We conducted a retrospective multicenter study in 46 TA patients treated with tocilizumab. We analyzed factors associated with response to tocilizumab (assessed using NIH score).
Hydroxychloroquine in Systemic Lupus Erythematosus: Comment on the Article by Muangchan et al.
Arthritis Care Res (Hoboken)
July 2016
Background: Cryofibrinogenemia is frequently associated with cryoglobulinemia. The aim of this study was to determine the characteristics associated with the presence of cryofibrinogenemia in patients with cryoglobulinemic vasculitis.
Methods: This was a single-center retrospective study that included patients with cryoglobulinemic vasculitis who were tested for cryofibrinogen at a tertiary referral center between January 1, 2011 and December 31, 2012.