Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

BRCA1/2 mutations in Latin America are scarcely documented and in serious need of knowledge about the spectrum of BRCA pathogenic variants, information which may alter clinical practice and subsequently improve patient outcome. In addition, the search for data on testing policies in different regions constitutes a fundamental strength for the present study, which analyzes BRCA1/2 gene sequences and large rearrangements in 940 probands with familial and/or personal history of breast/ovary cancer (BOC). In non-mutated DNA samples, Multiplex Ligation-dependent Probe Amplification assays (MLPA) were used for the analysis of large rearrangements. Our studies detected 179 deleterious mutations out of 940 (19.04%) probands, including 5 large rearrangements and 22 novel mutations. The recurrent mutations accounted for 15.08% of the total and only 2.87% of the probands analyzed, very different from a Hispanic panel previously described. IN CONCLUSION: a) this first comprehensive description of the spectrum in BRCA1/2 sheds light on the low frequency of recurrent mutations; b) this information is key in clinical practice to select adequate sequencing studies in our population, subsequently improve patient outcome and prevent damage associated to false normal reports resulting from the use of invalid population panels; c) panels of mutations from other populations should be cautiously validated before imported, even those of apparently similar origin, a concept to be considered beyond significance in Argentina.

Corrigendum: ADHD Rehabilitation through Video Gaming: A Systematic Review Using PRISMA Guidelines of the Current Findings and the Associated Risk of Bias.

[This corrects the article on p. 151 in vol. 6, PMID: 26557098.].

ADHD Rehabilitation through Video Gaming: A Systematic Review Using PRISMA Guidelines of the Current Findings and the Associated Risk of Bias.

Empirical research studies have highlighted the need to investigate whether video game can be useful as a tool within a neuropsychological rehabilitation program for attention deficit hyperactivity disorder (ADHD) patients. However, little is known about the possible gains that this kind of video game-based interventions can produce and even if these gains can be transferred to real life abilities. The present paper aims to uncover key information related to the use of video game in ADHD neuropsychological rehabilitation/intervention by focusing on its gains and its capability to transfer/generalize these gains to real life situation via a systematic review of the empirical literature. The PRISMA guidelines were adopted. Internet-based bibliographic searches were conducted via seven major electronic databases (i.e., PsycARTICLES, PsycINFO, Web of Science, Core Collection BIOSIS Citation Index, MEDLINE, SciELO Citation Index, and PubMed) to access studies examining the association between video game interventions in ADHD patients and behavioral and cognitive outcomes. A total of 14 empirical studies meeting the inclusion criteria were identified. The studies reported the attention, working memory, and the behavioral aspects as the main target of the intervention. Cognitive and behavioral gains were reported after the video game training (VGT). However, many bias related to the choice of outcome instruments, sampling and blindness of assessors, weaken the results power. Additional researches are important to clarify the effects and stability of the VGT programs, and an important effort should be made to construct better methods to assess improvements on everyday cognitive abilities and real world functioning.