No abstract

Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for one patient (1.6%). Heterogeneity for hair and skin phenotype was noted across and within the different genotypes. Skin and hair hypopigmentation did not correlate with visual impairment. The diagnosis of unrecognized syndromic forms and of cases of ocular albinism in this prospective and comprehensive series of patients with albinism in a European setting is remarkable. Photoprotection was overall good but not optimal.

BackgroundThe aim of this study was to identify the most reliable biomarkers in the literature that could be used as flare predictors in systemic lupus erythematosus (SLE).MethodsA systematic review of the literature was performed using two databases (MEDLINE and EMBASE) through April 2015 and congress abstracts from the American College of Rheumatology and the European League Against Rheumatism were reviewed from 2010 to 2014. Two independent reviewers screened titles and abstracts and analysed selected papers in detail, using a specific questionnaire. Reports addressing the relationships between one or more defined biological test(s) and the occurrence of disease exacerbation were included in the systematic review.ResultsFrom all of the databases, 4668 records were retrieved, of which 69 studies or congress abstracts were selected for the systematic review. The performance of seven types of biomarkers performed routinely in clinical practice and nine types of novel biological markers was evaluated. Despite some encouraging results for anti-double-stranded DNA antibodies, anti-C1q antibodies, B-lymphocyte stimulator and tumour necrosis factor-like weak inducer of apoptosis, none of the biomarkers stood out from the others as a potential gold standard for flare prediction. The results were heterogeneous, and a lack of standardized data prevented us from identifying a powerful biomarker.ConclusionsNo powerful conclusions could be drawn from this systematic review due to a lack of standardized data. Efforts should be undertaken to optimize future research on potential SLE biomarkers to develop validated candidates. Thus, we propose a standardized pattern for future studies.Electronic supplementary materialThe online version of this article (doi:10.1186/s13075-017-1442-6) contains supplementary material, which is available to authorized users.

Gram-negative toe-web infection is a disabling painful disease with long healing time and high recurrence rate. In a French retrospective real-life study, we described features and management of Gram-negative toe-web infection and evaluated the effect of controlling predisposing factors/diseases on the rate of recurrence. Among the 62 patients included, mainly male, 31 experienced more than one episode. Pseudomonas aeruginosa was the prominent bacteria. Predisposing factors/associated diseases were eczema, suspected Tinea pedis, humidity, hyperhidrosis, psoriasis and vascular disorders. Patients in whom associated diseases were controlled did not relapse. Subsequently, an algorithm of Gram-negative toe-web infection management is proposed with a focus on associated diseases. Gram-negative toe-web infection can cause pain and disability, be complicated by a long healing time, management failure, and cellulitis, and recur due to persistent predisposing factors. To describe the clinical features and management of Gram-negative toe-web infection and evaluate predisposing factors and associated diseases, their management, and the effect of controlling them on the rate of recurrence, we conducted a retrospective real-life study of patients with Gram-negative toe-web infection. Among the 62 patients (sex ratio 9:1), 31 experienced more than one episode of Gram-negative toe-web infection. Pseudomonas aeruginosa was the most prominent bacteria. Predisposing factors/associated diseases were eczema (66%), suspected Tinea pedis (58%), humidity (42%), hyperhidrosis (16%), psoriasis (11%), and vascular disorders (40%). Patients in whom associated diseases, such as eczema or psoriasis, were controlled did not relapse, suggesting the benefit of management of such conditions. We suggest that management of Gram-negative toe-web infection be standardised, with a focus on diagnosis and treatment of associated diseases.

BackgroundAlbinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. A comprehensive literature review showed that no tool can assess the burden experienced by individuals who present with albinism, although such a tool is needed and would be beneficial for clinicians and patients alike.MethodThe questionnaire was devised using standardized methodology for developing and validating questionnaires on the quality of life of subjects according to the following chronological structure: conceptual phase, development phase, and then validation phase. A multidisciplinary working group was assembled, including experts on questionnaire design and development, dermatologists specializing in care for patients with albinism, and representatives of the Genespoir association.ResultsBased on an initial verbatim report, the workgroup compiled a list of items that were transcribed and reformulated into questions. During the validation phase, principal component analysis (PCA) was conducted on the 24 items, which allowed the questionnaire to be reduced to 20 questions [Q]. The standardized regression coefficients were all greater than 0.5 for their corresponding factors. Based on their normalized regression coefficients, each group of questions was linked to one of the following four dimensions, with each dimension consisting of at least three questions: “Live with” (8 Q), “Daily life” (3 Q), “Resignation” (3 Q), and “Fear of the future” (6 Q). All dimensions correlated well with the overall BoA score. Cronbach’s α was 0.92 for the entire BoA scale, confirming excellent internal coherence. Intradimensional coherences all demonstrated excellent reliability (α > 0.65). The BoA questionnaire was highly correlated with the SF12, RSES and DLQI validated questionnaires. This outcome confirmed the external validity.ConclusionThis questionnaire represents the first specific assessment tool for evaluating the burden of albinism. It is easy to use and relatively quick to complete, which will allow the burden to be evaluated over time with a reproducible questionnaire. To ensure that this questionnaire can be used by as many people as possible, cultural and linguistic validation in US English was conducted with the original French version.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0894-3) contains supplementary material, which is available to authorized users.