Patterns and predictors of skin score change in early diffuse systemic sclerosis from the European Scleroderma Observational Study.

Objectives: Our aim was to use the opportunity provided by the European Scleroderma Observational Study to (1) identify and describe those patients with early diffuse cutaneous systemic sclerosis (dcSSc) with progressive skin thickness, and (2) derive prediction models for progression over 12 months, to inform future randomised controlled trials (RCTs).

Methods: The modified Rodnan skin score (mRSS) was recorded every 3 months in 326 patients. 'Progressors' were defined as those experiencing a 5-unit and 25% increase in mRSS score over 12 months (±3 months).

Disability, fatigue, pain and their associates in early diffuse cutaneous systemic sclerosis: the European Scleroderma Observational Study.

Objectives: Our aim was to describe the burden of early dcSSc in terms of disability, fatigue and pain in the European Scleroderma Observational Study cohort, and to explore associated clinical features.

Methods: Patients completed questionnaires at study entry, 12 and 24 months, including the HAQ disability index (HAQ-DI), the Cochin Hand Function Scale (CHFS), the Functional Assessment of Chronic Illness Therapy-fatigue and the Short Form 36 (SF36). Associates examined included the modified Rodnan skin score (mRSS), current digital ulcers and internal organ involvement.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience marked delays in obtaining a definitive diagnosis.

MOrtality and infectious complications of therapeutic EndoVAscular interventional radiology: a systematic and meta-analysis protocol.

Background: Endovascular interventional radiology (EIR) is an increasingly popular, mini invasive treatment option for patient with symptomatic vascular disease. The EIR practiced by qualified hands is an effective, well-tolerated procedure that offers relief of patient's symptoms with a low risk of complications. During acute post procedural period, immediate complications may relate to vascular access, restenosis, thromboembolic events, uterine ischemia, infection, necrosis, sepsis, ICU stay, surgical recovery, pain management, treatment failure, and death.

Treatment outcome in early diffuse cutaneous systemic sclerosis: the European Scleroderma Observational Study (ESOS).

Objectives: The rarity of early diffuse cutaneous systemic sclerosis (dcSSc) makes randomised controlled trials very difficult. We aimed to use an observational approach to compare effectiveness of currently used treatment approaches.

Methods: This was a prospective, observational cohort study of early dcSSc (within three years of onset of skin thickening).

Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.

Introduction: Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction therapy miglustat (Zavesca®) has been available in Europe since 2002 for the treatment of patients with mild or moderate Gaucher disease type 1 for whom enzyme replacement therapy is unsuitable or not a therapeutic option.

Epidemiology of invasive aspergillosis in critically ill patients: clinical presentation, underlying conditions, and outcomes.

Introduction: Invasive aspergillosis (IA) is a fungal infection that particularly affects immunocompromised hosts. Recently, several studies have indicated a high incidence of IA in intensive care unit (ICU) patients. However, few data are available on the epidemiology and outcome of patients with IA in this setting.

Nonpenetrating deep sclerectomy: a 6-year retrospective study.

Purpose: Nonpenetrating trabeculectomy, also called nonpenetrating deep sclerectomy (NPDS), is a filtering surgery where the internal wall of Schlemm's canal is excised, allowing subconjunctival filtration without actually entering the anterior chamber. This, technique was developed to minimize the complications of trabeculectomy. The authors investigated its safety and efficacy in a retrospective noncomparative study.