[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].

Introduction: Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist.

High Baseline Serum Clara Cell 16 kDa Predicts Subsequent Lung Disease Worsening in Systemic Sclerosis.

Objective: Clara cell secretory protein (CC16) is a sensitive marker of bronchial epithelial cell damage. The CC16 serum level is elevated in patients with pulmonary fibrosis, but its predictive value on lung disease progression has not yet been studied. We aimed to assess the value of serum CC16 concentration in predicting lung disease deterioration in patients with systemic sclerosis (SSc).

Comparing Inpatient Satisfaction Collected via a Web-Based Questionnaire Self-Completion and Through a Telephone Interview: An Ancillary Study of the SENTIPAT Randomized Controlled Trial.

Background: Assessing the satisfaction of patients about the health care they have received is relatively common nowadays. In France, the satisfaction questionnaire, I-Satis, is deployed in each institution admitting inpatients. Internet self-completion and telephone interview are the two modes of administration for collecting inpatient satisfaction that have never been compared in a multicenter randomized experiment involving a substantial number of patients.

The Clinical Relevance of Antifibrillarin (anti-U3-RNP) Autoantibodies in Systemic Sclerosis.

Systemic sclerosis (SSc) is a heterogeneous autoimmune disease associated with several antinuclear autoantibodies useful to diagnosis and prognosis. The aim of the present multicentric study was to determine the clinical relevance of antifibrillarin autoantibodies (AFA) in patients with SSc. The clinical features of 37 patients with SSc positive for AFA (AFA+) and 139 SSc patients without AFA (AFA-) were collected retrospectively from medical records to enable a comparison between AFA- and AFA+ patients.

Personalized Physical Therapy Versus Usual Care for Patients With Systemic Sclerosis: A Randomized Controlled Trial.

Objective: To compare a physical therapy program to usual care of systemic sclerosis (SSc) patients on disability.

Methods: A 12-month followup, parallel-group randomized controlled trial involving a modified Zelen design was conducted in 4 tertiary-care hospitals. Patients were enrolled if they had a disability rating ≥0.

Anti-Ephrin Type-B Receptor 2 (EphB2) and Anti-Three Prime Histone mRNA EXonuclease 1 (THEX1) Autoantibodies in Scleroderma and Lupus.

In a pilot ProtoArray analysis, we identified 6 proteins out of 9483 recognized by autoantibodies (AAb) from patients with systemic sclerosis (SSc). We further investigated the 6 candidates by ELISA on hundreds of controls and patients, including patients with Systemic Lupus Erythematosus (SLE), known for high sera reactivity and overlapping AAb with SSc. Only 2 of the 6 candidates, Ephrin type-B receptor 2 (EphB2) and Three prime Histone mRNA EXonuclease 1 (THEX1), remained significantly recognized by sera samples from SSc compared to controls (healthy or with rheumatic diseases) with, respectively, 34% versus 14% (P = 2.

Granulomatosis with polyangiitis: endoscopic management of tracheobronchial stenosis: results from a multicentre experience.

Objectives: Tracheobronchial stenosis (TBS) is noted in 12-23% of patients with granulomatosis with polyangiitis (GPA), and includes subglottic stenosis and bronchial stenosis. We aimed to analyse the endoscopic management of TBS in GPA and to identify factors associated with the efficacy of endoscopic interventions.

Methods: We conducted a French nationwide retrospective study that included 47 patients with GPA-related TBS.

[Periungueal capillaroscopy: an easy and reliable method to evaluate all microcirculation diseases].

Periungueal capillaroscopy is a simple and reliable non-invasive technique allowing evaluation of cutaneous microcirculation. It was promoted for decades in patients with Raynaud's phenomenon in order to differentiate between the benign primary Raynaud's phenomenon and the secondary form in connective tissue diseases, especially systemic sclerosis. Nevertheless, the value of this procedure has also been shown in numerous pathologies such as diabetes or cardiovascular diseases.

[Cannabinoid hyperemesis syndrome: about 6 cases].

Introduction: The cannabinoid hyperemesis syndrome (CHS) is characterized by cyclic episodes of nausea, vomiting, and abdominal pain, and occurs in young adults with long-term cannabis use. The feature of this syndrome is the relief of symptoms with hot showers. We report here six cases report.

[Perioperative management of patients with systemic scleroderma].

Systemic sclerosis (SSc) is an auto-immune disease characterized by vasculopathy and the combination of microangiopathy and tissue collagen deposit leading to skin, digestive, pulmonary, myocardial and renal injuries. These repercussions could be challenging for anesthesiologists and associated with difficulties in airway management, and occurrence of congestive right heart failure or acute kidney crisis. The aim of this review is to review the physiopathology and the progression of the SSc, as well as to provide a strategy of perioperative management of these patients.

[Lightning strike and lesions outside the brain: Clinical cases and a review of the literature].

Introduction: Every year, 240,000 people are struck by lightning worldwide, causing injuries leading to significant handicaps. Most of the symptoms involve brain lesions; neuromuscular sequelae and myelopathy are less common.

Observations: We describe five cases of patients struck by lightning with various clinical presentations.

Systemic sclerosis and prevalence of monoclonal immunoglobulin.

Introduction: The purpose of this study was to estimate the prevalence of monoclonal immunoglobulin (MIg) among patients with systemic sclerosis (SSc) according to the capillary electrophoresis or immunofixation method of detection and to search for any related clinical correlations.

Patients And Methods: Retrospective multicenter comparison of capillary electrophoresis and immunofixation results in SSc patients and of the characteristics of patients with and without MIg.

Results: The study included 244 SSc patients (216 women and 28 men, mean age: 55±14 years).

Exhaled NO predicts cyclophosphamide response in scleroderma-related lung disease.

Cyclophosphamide (CYC) is not always effective in patients with scleroderma-related interstitial lung disease (SSc-ILD), hence the need for biomarkers able to predict beneficial responses to CYC therapy. We therefore assessed whether baseline alveolar concentration of nitric oxide (CANO) could predict the favourable response to CYC therapy in patients with SSc-ILD. Nineteen non-smoker patients with SSc-ILD, were enrolled and treated with 6 courses of CYC (0.

Prevalence, correlates and outcomes of gastric antral vascular ectasia in systemic sclerosis: a EUSTAR case-control study.

Objective: To estimate the prevalence, determine the subgroups at risk, and the outcomes of patients with systemic sclerosis (SSc) and gastric antral vascular ectasia (GAVE).

Methods: We queried the European League Against Rheumatism Scleroderma Trials and Research (EUSTAR) network for the recruitment of patients with SSc-GAVE. Each case was matched for cutaneous subset and disease duration with 2 controls with SSc recruited from the same center, evaluated at the time the index case made the diagnosis of GAVE.

Primary-care physicians' patient referral patterns to private versus public hospitals for orthopaedic or trauma surgery-- French Sentinels® database, 1997-2011.

Background: In France, primary-care physicians referring patients for admission can choose between public and private hospitals. The factors that govern their choices are unknown.

Methods: Among all patient admissions reported from 1997 to 2011 by primary-care physicians participating in the Sentinels(®) network, we identified those due to orthopaedic conditions or trauma.

Long-term outcome in idiopathic granulomatous mastitis: a western multicentre study.

Aim: To investigate the presentation, disease course and long-term outcome of a western cohort of idiopathic granulomatous mastitis (IGM) and to analyse the impact of different therapeutic strategies.

Methods: Multicentre retrospective study of 23 women followed over an extended period. Patients were recruited in nine French internal medicine departments.

[High plasmatic concentration of vitamin B12: an indicator of hepatic diseases or tumors].

Purpose: To identify the diseases that are associated with a high plasma concentration of vitamin B12 and to measure the strength of this association.

Patients And Methods: Retrospective study including all admissions between 1st May, 2005 and 30th April, 2008 in the UMAG pole departments (emergency, internal medicine, acute geriatrics and medical intensive care) with a test for plasma vitamin B12. The association between each of medical information system codes (solid tumors, malignant hematologic process, and renal disease) and a high or low vitamin B12 concentration was measured by odds ratios (OR) from logistic models taking into account repeated admissions, with adjustment for age and the weighted Charlson index.

High alveolar concentration of nitric oxide is associated with alveolitis in scleroderma.

Alveolar concentration of nitric oxide (C(A)NO) is a non invasive prognostic marker of systemic sclerosis (SSc) lung disease. There is, however, as yet no direct evidence showing concomitant increase of C(A)NO and the presence of inflammatory cells in alveoli. We have therefore measured C(A)NO and performed broncho-alveolar lavage (BAL) in SSc patients.

[Pulmonary embolism revealed by a seizure: a case report and literature review].

Introduction: Pulmonary embolism is a frequent disorder with a diagnostic approach based on probability estimation. Nevertheless, in some cases, prognosis may be impaired by delayed diagnosis resulting from atypical presenting manifestations.

Case Report: We report a 37-year-old woman, admitted for a seizure as the presenting manifestation of pulmonary embolism, and review nine additional similar cases reported in the literature since 1945.

Aldolase predicts subsequent myopathy occurrence in systemic sclerosis.

Introduction: Myopathy related to systemic sclerosis (Myo-SSc) is a disabling and unpredictable complication of SSc. We assessed the predictive value of serum aldolase, creatine kinase (CK), alanine transaminase (ALT), aspartate transaminase (AST) and C-reactive protein (CRP) to estimate the risk of developing Myo-SSc.

Methods: We enrolled 137 SSc patients without proximal muscle weakness in a prospective monocentric study to follow them longitudinally over a four-year period.

Comparing HLA shared epitopes in French Caucasian patients with scleroderma.

Although many studies have analyzed HLA allele frequencies in several ethnic groups in patients with scleroderma (SSc), none has been done in French Caucasian patients and none has evaluated which one of the common amino acid sequences, (67)FLEDR(71), shared by HLA-DRB susceptibility alleles, or (71)TRAELDT(77), shared by HLA-DQB1 susceptibility alleles in SSc, was the most important to develop the disease. HLA-DRB and DQB typing was performed for a total of 468 healthy controls and 282 patients with SSc allowing FLEDR and TRAELDT analyses. Results were stratified according to patient's clinical subtypes and autoantibody status.