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

A STUDY OF SEMANTIC COMPLEXITY INFLUENCES ON PHONOLOGY DURING CHILD LANGUAGE ACQUISITION

The purpose of the study was to examine the relationship between semantics and phonology in the speech of young children. This was accomplished by introducing experimental action words and experimental object words into the productive vocabularies of ten language-normal children. The phonetic structure, frequency of input, affixes, and presentation form of the experimental words were controlled, in order to eliminate the confounding effects these factors may have had on any semantic-phonological interrelationship. The hypothesis tested was whether the increased semantic complexity of action words would result in a decrease in production capability within the phonological domain. The results indicated that action words were spontaneously produced with a lower percentage of consonants correct than were the object words. Action words produced as unsolicited imitations were also produced with a lower percentage of consonants correct. Experimental words produced as elicited imitations did not reflect this production accuracy difference. However, differences were evident within the elicited imitations in terms of production variability: action words were produced with a higher degree of variability within multiple imitations than were object words. These findings were interpreted as being indicative of a semantic-phonological interaction within the speech of young children. Additionally, the results were discussed in terms of an information processing model of language acquisition and their relevance to current theories of phonological acquisition

Sport-Related Structural Brain Injury and Return to Play: Systematic Review and Expert Insight

BACKGROUND: Sport-related structural brain injury (SRSBI) is intracranial pathology incurred during sport. Management mirrors that of non-sport-related brain injury. An empirical vacuum exists regarding return to play (RTP) following SRSBI. OBJECTIVE: To provide key insight for operative management and RTP following SRSBI using a (1) focused systematic review and (2) survey of expert opinions. METHODS: A systematic literature review of SRSBI from 2012 to present in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and a cross-sectional survey of RTP in SRSBI by 31 international neurosurgeons was conducted. RESULTS: Of 27 included articles out of 241 systematically reviewed, 9 (33.0%) case reports provided RTP information for 12 athletes. To assess expert opinion, 31 of 32 neurosurgeons (96.9%) provided survey responses. For acute, asymptomatic SRSBI, 12 (38.7%) would not operate. Of the 19 (61.3%) who would operate, midline shift (63.2%) and hemorrhage size \u3e 10 mm (52.6%) were the most common indications. Following SRSBI with resolved hemorrhage, with or without burr holes, the majority of experts (\u3e75%) allowed RTP to high-contact/collision sports at 6 to 12 mo. Approximately 80% of experts did not endorse RTP to high-contact/collision sports for athletes with persistent hemorrhage. Following craniotomy for SRSBI, 40% to 50% of experts considered RTP at 6 to 12 mo. Linear regression revealed that experts allowed earlier RTP at higher levels of play (β = -0.58, 95% CI -0.111, -0.005, P = .033). CONCLUSION: RTP decisions following structural brain injury in athletes are markedly heterogeneous. While individualized RTP decisions are critical, aggregated expert opinions from 31 international sports neurosurgeons provide key insight. Level of play was found to be an important consideration in RTP determinations