Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Relatório de estágio em farmácia comunitária

Relatório de estágio realizado no âmbito do Mestrado Integrado em Ciências Farmacêuticas, apresentado à Faculdade de Farmácia da Universidade de Coimbr

Expectation as a factor of influence on the success of use of hearing aids in elderly individuals

Introduction: Auditory prosthesis is distinguished in function of the lesser technologies that become them each time, more powerful and efficient. The marketing can generate unreal expectations how much to the results with the amplification use, mainly in inexperienced individuals. Objective: To verify the relation between expectations and success of the process of election and adaptation of auditory prosthesis in aged. Method: Clinical and experimental study, 16 aged, inexperienced individuals with the amplification use, the election and adaptation of auditory prosthesis had been evaluated 15 days before and after. Questionnaire for evaluation of the expectations of aged the adult individual was used "/, new user of auditory prosthesis", Hearing Handicap Inventory will be the Elderly/Screening Version, for evaluation of the perception of the restriction of participation and the International Questionnaire - Device of Amplification Sonora Individual (QI-AASI), to verify the subjective benefit with the use of the auditory prosthesis. The Percentile Index of Recognition of Sentences in Silence was determined (IPRSS), by means of the test Lists of Sentences in Portuguese to verify the objective benefit of the adaptation. The data had been analyzed by means of not-parametric test, with level of significance of 5%. Results: The entire sample presented positive expectations. Subjectively benefit for the reduction of the perception of the participation restriction and for the positive evaluation of the adaptation, evidenced for the QI-AASI was verified. Objective the improvement of the IPRSS with the use of auditory prosthesis also evidenced benefits. Conclusion: The expectation how much to the results with the amplification use, it was factor of negative influence in the success of the process of election and adaptation of auditory prosthesis, in the subjective scope

Recognition of Speech of Normal-hearing Individuals with Tinnitus and Hyperacusis

Introduction: Tinnitus and hyperacusis are increasingly frequent audiological symptoms that may occur in the absence of the hearing involvement, but it does not offer a lower impact or bothering to the affected individuals. The Medial Olivocochlear System helps in the speech recognition in noise and may be connected to the presence of tinnitus and hyperacusis. Objective: To evaluate the speech recognition of normal-hearing individual with and without complaints of tinnitus and hyperacusis, and to compare their results. Method: Descriptive, prospective and cross-study in which 19 normal-hearing individuals were evaluated with complaint of tinnitus and hyperacusis of the Study Group (SG), and 23 normal-hearing individuals without audiological complaints of the Control Group (CG). The individuals of both groups were submitted to the test List of Sentences in Portuguese, prepared by Costa (1998) to determine the Sentences Recognition Threshold in Silence (LRSS) and the signal to noise ratio (S/N). The SG also answered the Tinnitus Handicap Inventory for tinnitus analysis, and to characterize hyperacusis the discomfort thresholds were set. Results: The CG and SG presented with average LRSS and S/N ratio of 7.34 dB NA and -6.77 dB, and of 7.20 dB NA and -4.89 dB, respectively. Conclusion: The normal-hearing individuals with or without audiological complaints of tinnitus and hyperacusis had a similar performance in the speech recognition in silence, which was not the case when evaluated in the presence of competitive noise, since the SG had a lower performance in this communication scenario, with a statistically significant difference

Do herpes e suas implicações audiológicas: uma revisao de literatura Herpes and its hearing implications: a literature review

TEMA: herpes e audiologia. OBJETIVO: realizar revisão teórica principalmente sobre os vírus herpes simples tipo 1, herpes simples tipo 2 e varicela-zoster, bem como sobre seus efeitos na audição humana. Esses se constituem nos tipos de vírus herpéticos humanos de maior relevância para a área da Audiologia dentro da ciência da Fonoaudiologia e, no entanto, são pouco conhecidos e estudados, especialmente no Brasil. MÉTODOS: realizou-se pesquisa em bases de dados eletrônicas nacionais e internacionais, incluindo SciELO, MEDLINE e LILACS, a partir da seguinte combinação de descritores: herpes simplex/zoster X hearing loss ou deafness. Foram selecionados estudos publicados desde a década de 90 até os dias atuais, relevando-se aqueles que contivessem maior valor informativo, contribuindo para os objetivos do presente trabalho. CONCLUSÃO: os vírus herpéticos estudados apresentam estreita relação com distúrbios auditivos, independentemente da idade em que o sujeito é acometido.<br>BACKGROUND: herpes and audiology. PURPOSE: to promote a theoretical approach mainly on herpes simplex virus type 1, herpes simplex virus type 2 and varicella zoster virus, and their effects on human hearing. Although representing the most relevant human herpetic viruses for the area of Audiology within the Speech and Language Pathology Science, these viruses are little studied and known, especially in Brazil. METHODS: a research was carried out in national and international electronic databases, including SciELO, MEDLINE and LILACS, and using the following keyword combinations: herpes simplex/zoster X hearing loss or deafness. Studies published from the 90's until today were selected, revealing those that would contain the highest informative value, which would thus contribute for the objectives of this work. CONCLUSION: the studied herpetic viruses show strict relation with hearing disorders, regardless of the age in which the patient is affected

Universal Dependencies 2.0 – CoNLL 2017 Shared Task Development and Test Data

Universal Dependencies is a project that seeks to develop cross-linguistically consistent treebank annotation for many languages, with the goal of facilitating multilingual parser development, cross-lingual learning, and parsing research from a language typology perspective. The annotation scheme is based on (universal) Stanford dependencies (de Marneffe et al., 2006, 2008, 2014), Google universal part-of-speech tags (Petrov et al., 2012), and the Interset interlingua for morphosyntactic tagsets (Zeman, 2008). This release contains the test data used in the CoNLL 2017 shared task on parsing Universal Dependencies. Due to the shared task the test data was held hidden and not released together with the training and development data of UD 2.0. Therefore this release complements the UD 2.0 release (http://hdl.handle.net/11234/1-1983) to a full release of UD treebanks. In addition, the present release contains 18 new parallel test sets and 4 test sets in surprise languages. The present release also includes the development data already released with UD 2.0. Unlike regular UD releases, this one uses the folder-file structure that was visible to the systems participating in the shared task