Patient reported outcomes of patients with Gaucher disease type 1 treated with eliglustat in real-world settings: The ELIPRO study.

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.

Clinical impact and prognosis of cryoglobulinemia and cryofibrinogenemia in systemic sclerosis.

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.

Sine scleroderma, limited cutaneous, and diffused cutaneous systemic sclerosis survival and predictors of mortality.

Background: 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.

[Fabry disease: A review].

Fabry disease is the second most frequent lysosomal storage disorder. It is a X-linked genetic disease secondary to alpha-galactosidase A enzyme deficiency. This is a progressive and systemic disease that affects both males and females.

When and How to Diagnose Fabry Disease in Clinical Pratice.

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.

[Mucopolysaccharidosis: A review].

Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.

[Very early and early systemic sclerosis: An update].

Classification criteria for systemic sclerosis evolved over the last three decades, allowing an earlier classification. In the late 2000s, the EULAR Scleroderma Trials and Research Group validated very early and early systemic sclerosis criteria. Raynaud phenomenon, anti-nuclear antibody positivity and the puffy fingers are "Red flags" that must lead to refer the patient to a specialist and benefit from a capillaroscopy and the specific autoantibodies.

Efficacy of tocilizumab in Takayasu arteritis: Multicenter retrospective study of 46 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).

Cryofibrinogenemia: a marker of severity of cryoglobulinemic vasculitis.

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.

[Cryofibrinogenemia: a single-center study at the University Hospital of Toulouse, France].

Purpose: Cryofibrinogenemia is an unknown disorder and studies dedicated to it are limited. The aim of our study was to report on the incidence, clinical manifestations and associated diseases in patients with isolated cryofibrinogenemia.

Methods: This is a retrospective single-center study.

An unusual form of Riedel's thyroiditis: a case report and review of the literature.

We report the case of a 36-year old woman with a history of long-term fever associated with a biologic inflammatory syndrome that was not corrected by several courses of corticosteroid treatment. The only remarkable result during previous investigations was the presence of a positive Epstein-Barr virus (EBV) serology. Clinical examination revealed an heterogenous thyroid with a nodule on the right lobe.

[Silent sinus syndrome: a rare case of enophthalmia].

Introduction: The causes of spontaneous enophthalmos, without trauma, surgical factors, or systemic illness, which can be found are rare. A particular entity called silent sinus syndrome in the Anglo-Saxon literature, which concerns the long-term effect of hypoventilation of the maxillary sinus responsible for an attraction of the sinus walls, resulting in sagging of the orbital floor, itself responsible for the enophthalmos.

Case Report: We report the case about a 29-year-old woman, presenting a left-side spontaneous enophthalmos, with sinus-type pains for 2 months.

[Frequency of autoimmune diseases in 218 patients with autoimmune thyroid pathologies].

Purpose: The aim of our study was to investigate the frequency of auto-immune diseases in patients suffering from autoimmune thyroid diseases.

Method: We realised a retrospective study from 1981 to 1993 including 218 patients suffering from thyroiditis who were followed in the same hospital service. There were 202 women and 16 men with a mean age 49 at the moment their thyroid pathology was discovered.