Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in patients with syndromes overlapping Coats plus. CTC1, STN1 and TEN1 are part of the telomere-capping complex involved in maintaining telomeric structural integrity.

Clinical course and factors associated with remission in pemphigus vulgaris patients in Puerto Rico.

Objective: To describe and identify those factors associated with remission on pemphigus vulgaris (PV) patients in Puerto Rico.

Methods: This retrospective cohort study evaluated PV patients followed at the University Puerto Rico (UPR) Bullous Diseases Clinic during the 2000-2010 period. Patients included in the study had clinical and pathologic findings consistent with PV and had a disease duration of at least 3 years.

Spitz nevus in a Hispanic population: a clinicopathological study of 130 cases.

Spitz nevus is an uncommon melanocytic nevus distinctive by its epithelioid and spindled melanocytes. Many studies have attempted to characterize Spitz nevus, but none of them in a Hispanic population. Our aim is to characterize the clinical and histopathological presentation of the Spitz nevus in a Hispanic population.

Evidence-based medicine as a tool for clinical decision-making in Puerto Rico.

Evidence-based medicine (EBM) is defined as "the process of systematically finding, appraising and using contemporaneous research findings as the basis for clinical decisions". Although EBM has been extensively described across the Americas and Europe, no study has looked at the practice of EBM in Puerto Rico. A cross-sectional analysis based on a 23-item questionnaire was employed.