Getting Inside the Mind of Gay and Bisexual Men Who Have Sex with Men with Sexualized Drug Use - A Systematic Review.

Objectives: Sexualized Drug Use (SDU) consists of using any drug purposely before or during sex with the intent of modifying sex experiences. SDU is especially practiced among Gay and Bisexual Men who have Sex with Men (GBMSM). This study aims to review the relevant literature to identify and summarize the reasons reported by GBMSM to engage in SDU.

Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.

Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of variants. Patients with either nonsyndromic or syndromic SNHL were included.

GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.

Introduction: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients.

Material And Methods: In order to select the less common GJB2 variants, 147 hearing-impaired patients followed in Centro Hospitalar Universitário de São João were evaluated.