Deafness–associated connexin 26 gene (GJB2) mutations in Iranian population

Mutations in the GJB2 gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (ARNSHL) in many populations. A single mutation, at position 35 (35delG) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most European, North American and Mediterranean populations. In this study we have investigated the prevalence of the GJB2 gene mutations using direct sequencing in 43 presumed ARNSHL subjects from 34 families in an Iranian population. Eleven different genetic variants were identified. GJB2-related deafness mutations (35delG, 235delC, W24X, R184P and IVS1+1G>A) were found in 9 of 34 families (26.5%). The 35delG was the most common mutation found in 5 of 34 families (14.7%). We found one novel variant (–3517G>A) in the upstream region to the gene. The mutation frequency found in this study is lower than other ethnic groups with European ancestry, but it is indicating that mutation in GJB2 in Iranian population has contribution to ARNSHL. We have also developed a simple and accurate nested PCR assay to screen the 35delG mutation in 250 unrelated unaffected Iranian individual (controls). No 35delG heterozygous was found in the control population

Developing Feedback Based Robotic Manufacturing Method for Earth-Based Materials

Although earth-based materials have the advantage of being locally sourced and have low embodied emissions, they can have an unpredictable material behavior due to their heterogeneous composition which potentially limits their use in manufacturing. As a result, it becomes challenging to standardise and maintain quality outcomes. Moreover, current industry methods are labour-intensive and require a high level of traditional knowledge. This research explores and develops a fabrication methodology for earthen materials that is location-agnostic. It involves an array of fabrication approaches, including the development of a robotic 'Impact Printing' setup using a UR10 robot and a custom tool to pick, place, and mechanically compact earth blocks. The 'Feedback System' employs Kinect 2.0 to scan the deformation of earth materials observed during fabrication and a computational algorithm to generate accurate and adapted toolpaths for the position and compaction of earthen blocks in real-time. To push the boundaries of architectural design for traditional building materials, the study investigates the construction of a closed Nubian vault using the aforementioned techniques and tools. Through the optimization of material behavior and manufacturing processes, the research opens up a pathway for automated onsite earth construction

Globally, songs and instrumental melodies are slower and higher and use more stable pitches than speech: A Registered Report

Both music and language are found in all known human societies, yet no studies have compared similarities and differences between song, speech, and instrumental music on a global scale. In this Registered Report, we analyzed two global datasets: (i) 300 annotated audio recordings representing matched sets of traditional songs, recited lyrics, conversational speech, and instrumental melodies from our 75 coauthors speaking 55 languages; and (ii) 418 previously published adult-directed song and speech recordings from 209 individuals speaking 16 languages. Of our six preregistered predictions, five were strongly supported: Relative to speech, songs use (i) higher pitch, (ii) slower temporal rate, and (iii) more stable pitches, while both songs and speech used similar (iv) pitch interval size and (v) timbral brightness. Exploratory analyses suggest that features vary along a “musi-linguistic” continuum when including instrumental melodies and recited lyrics. Our study provides strong empirical evidence of cross-cultural regularities in music and speech

Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

Contains fulltext : 172380.pdf (publisher's version ) (Open Access