Orphanet J Rare Dis
September 2018
Background: Albinism 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.
Method: The 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.
Background: The 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).
Methods: A 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.
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.
View Article and Find Full Text PDFBackground: The use of anti-programmed cell death (PD)-1 therapies in metastatic tumors is associated with cutaneous side effects including vitiligo-like lesions.
Objective: We sought to characterize clinically and biologically vitiligo-like lesions occurring in patients receiving anti-PD-1 therapies by studying a case series of 8 patients with metastatic tumors and 30 control subjects with vitiligo.
Methods: Eight patients receiving anti-PD-1 therapies with features of vitiligo-like lesions seen in our department were recruited.