CROS or Hearing Aid? Selecting the Ideal Solution for Unilateral CI Patients with Limited Aidable Hearing in the Contralateral Ear

A hearing aid or a contralateral routing of signal device are options for unilateral cochlear implant listeners with limited hearing in the unimplanted ear; however, it is uncertain which device provides greater benefit beyond unilateral listening alone. Eighteen unilateral cochlear implant listeners participated in this prospective, within-participants, repeated measures study. Participants were tested with the cochlear implant alone, cochlear implant + hearing aid, and cochlear implant + contralateral routing of signal device configurations with a one-month take-home period between each in-person visit. Audiograms, speech perception in noise, and lateralization were evaluated. Subjective feedback was obtained via questionnaires. Marked improvement in speech in noise and non-implanted ear lateralization accuracy were observed with the addition of a contralateral hearing aid. There were no significant differences in speech recognition between listening configurations. However, the chronic device use questionnaires and the final device selection showed a clear preference for the hearing aid in spatial awareness and communication domains. Individuals with limited hearing in their unimplanted ears demonstrate significant improvement with the addition of a contralateral device. Subjective questionnaires somewhat contrast with clinic-based outcome measures, highlighting the delicate decision-making process involved in clinically advising one device or another to maximize communication benefits

Diversity Outbred Mice at 21: Maintaining Allelic Variation in the Face of Selection

Multi-parent populations (MPPs) capture and maintain the genetic diversity from multiple inbred founder strains to provide a resource for high-resolution genetic mapping through the accumulation of recombination events over many generations. Breeding designs that maintain a large effective population size with randomized assignment of breeders at each generation can minimize the impact of selection, inbreeding, and genetic drift on allele frequencies. Small deviations from expected allele frequencies will have little effect on the power and precision of genetic analysis, but a major distortion could result in reduced power and loss of important functional alleles. We detected strong transmission ratio distortion in the Diversity Outbred (DO) mouse population on chromosome 2, caused by meiotic drive favoring transmission of the WSB/EiJ allele at the R2d2 locus. The distorted region harbors thousands of polymorphisms derived from the seven non-WSB founder strains and many of these would be lost if the sweep was allowed to continue. To ensure the utility of the DO population to study genetic variation on chromosome 2, we performed an artificial selection against WSB/EiJ alleles at the R2d2 locus. Here, we report that we have purged the WSB/EiJ allele from the drive locus while preserving WSB/EiJ alleles in the flanking regions. We observed minimal disruption to allele frequencies across the rest of the autosomal genome. However, there was a shift in haplotype frequencies of the mitochondrial genome and an increase in the rate of an unusual sex chromosome aneuploidy. The DO population has been restored to genome-wide utility for genetic analysis, but our experience underscores that vigilant monitoring of similar genetic resource populations is needed to ensure their long-term utility

Early farmers from across Europe directly descended from Neolithic Aegeans

Farming and sedentism first appeared in southwestern Asia during the early Holocene and later spread to neighboring regions, including Europe, along multiple dispersal routes. Conspicuous uncertainties remain about the relative roles of migration, cultural diffusion, and admixture with local foragers in the early Neolithization of Europe. Here we present paleogenomic data for five Neolithic individuals from northern Greece and northwestern Turkey spanning the time and region of the earliest spread of farming into Europe. We use a novel approach to recalibrate raw reads and call genotypes from ancient DNA and observe striking genetic similarity both among Aegean early farmers and with those from across Europe. Our study demonstrates a direct genetic link between Mediterranean and Central European early farmers and those of Greece and Anatolia, extending the European Neolithic migratory chain all the way back to southwestern Asia

Phytotoxins Produced by Fungi Associated with Grapevine Trunk Diseases

Up to 60 species of fungi in the Botryosphaeriaceae family, genera Cadophora, Cryptovalsa, Cylindrocarpon, Diatrype, Diatrypella, Eutypa, Eutypella, Fomitiporella, Fomitiporia, Inocutis, Phaeoacremonium and Phaeomoniella have been isolated from decline-affected grapevines all around the World. The main grapevine trunk diseases of mature vines are Eutypa dieback, the esca complex and cankers caused by the Botryospheriaceae, while in young vines the main diseases are Petri and black foot diseases. To understand the mechanism of these decline-associated diseases and the symptoms associated with them, the toxins produced by the pathogens involved in these diseases were isolated and characterised chemically and biologically. So far the toxins of only a small number of these decline fungi have been studied. This paper presents an overview of the toxins produced by the most serious of these vine wood pathogens: Eutypa lata, Phaeomoniella chlamydospora, Phaeoacremonium aleophilum and some taxa in the Botryosphaeriaceae family, and examines how these toxins produce decline symptoms. The chemical structure of these metabolites and in some cases their vivotoxin nature are also discussed

Políticas de educação bilíngue para surdos: o contexto brasileiro

Este artigo propõe-se a apresentar um panorama das políticas educacionais para surdos, desde a década de 1990, demarcando as inúmeras disputas ideológicas que influenciaram diretamente os campos da política linguística e das políticas de educação inclusiva para esse grupo de estudantes. Assumimos como elemento determinante de análise a gestão pública das línguas adotadas na educação de surdos para avaliar a efetividade das políticas de educação inclusiva, considerando que a complexa situação de bilinguismo dos surdos está diluída ao, não menos complexo, processo de inclusão de pessoas com deficiência na escola comum. Assim, demonstramos que há um desvio de foco (derivado de um desvio na concepção de sujeito surdo) no conjunto de textos oficiais que constituem as diretrizes filosóficas e legais para a educação desses estudantes, cujo impacto central é não assegurar o direito à língua de sinais brasileira (Libras) como língua materna na infância, conforme reivindicam os movimentos surdos e está assegurado na letra da lei. Aponta-se a política linguística como uma variável determinante no debate da conjuntura nacional da educação de surdos brasileiros, ainda que nem sempre a ela seja dada centralidade pelo poder público, na atualidade. Ao analisar a política linguística refletida no percurso histórico da educação de surdos, realizamos uma análise crítica sobre os avanços e dificuldades no processo de escolarização (dito) bilíngue de surdos no contexto da educação (dita) inclusiva

Uncovering the complex genetics of human temperament

Experimental studies of learning suggest that human temperament may depend on the molecular mechanisms for associative conditioning, which are highly conserved in animals. The main genetic pathways for associative conditioning are known in experimental animals, but have not been identified in prior genome-wide association studies (GWAS) of human temperament. We used a data-driven machine learning method for GWAS to uncover the complex genotypic-phenotypic networks and environmental interactions related to human temperament. In a discovery sample of 2149 healthy Finns, we identified sets of single-nucleotide polymorphisms (SNPs) that cluster within particular individuals (i.e., SNP sets) regardless of phenotype. Second, we identified 3 clusters of people with distinct temperament profiles measured by the Temperament and Character Inventory regardless of genotype. Third, we found 51 SNP sets that identified 736 gene loci and were significantly associated with temperament. The identified genes were enriched in pathways activated by associative conditioning in animals, including the ERK, PI3K, and PKC pathways. 74% of the identified genes were unique to a specific temperament profile. Environmental influences measured in childhood and adulthood had small but significant effects. We confirmed the replicability of the 51 Finnish SNP sets in healthy Korean (90%) and German samples (89%), as well as their associations with temperament. The identified SNPs explained nearly all the heritability expected in each sample (37-53%) despite variable cultures and environments. We conclude that human temperament is strongly influenced by more than 700 genes that modulate associative conditioning by molecular processes for synaptic plasticity and long-term memory.Peer reviewe

Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer

Background Genome-wide association studies (GWAS) identify associations of individual single-nucleotide polymorphisms (SNPs) with cancer risk but usually only explain a fraction of the inherited variability. Pathway analysis of genetic variants is a powerful tool to identify networks of susceptibility genes. Methods We conducted a large agnostic pathway-based meta-analysis of GWAS data using the summary-based adaptive rank truncated product method to identify gene sets and pathways associated with pancreatic ductal adenocarcinoma (PDAC) in 9040 cases and 12 496 controls. We performed expression quantitative trait loci (eQTL) analysis and functional annotation of the top SNPs in genes contributing to the top associated pathways and gene sets. All statistical tests were two-sided. Results We identified 14 pathways and gene sets associated with PDAC at a false discovery rate of less than 0.05. After Bonferroni correction (P Conclusion Our agnostic pathway and gene set analysis integrated with functional annotation and eQTL analysis provides insight into genes and pathways that may be biologically relevant for risk of PDAC, including those not previously identified.Peer reviewe