Visual Perception in Hearing Sign Language Users

Deaf signers exhibit superior visual perception compared to hearing controls in several domains, including the perception of faces and peripheral motion. These visual enhancements are thought to compensate for an absence of auditory input. However, it is also possible that they reflect experience using a visual-manual language, where signers must process complex moving hand signs and facial cues simultaneously. Thus, the current study sought to isolate the effects of sign language experience by examining how visual perception is altered as a function of American Sign Language (ASL) proficiency in hearing individuals. Hearing signers completed an online test of ASL proficiency and were compared to hearing non-signers on online behavioural measures of face perception and biological motion perception. No group-level differences in performance were observed, suggesting that the visual enhancements found in Deaf signers result from hearing loss itself rather than sign language. Potential neurodevelopmental mechanisms for these findings are discussed

Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation

BACKGROUND & AIMS: Alpha-1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype). Pi*ZZ carriers may develop lung and liver diseases. Mutation- associated lung disorders have been well studied, but less is known about the effects in liver. We assessed the liver disease burden and associated features in adults with this form of AATD. METHODS: We collected data from 554 Pi*ZZ adults (403 in an exploratory cohort, 151 in a confirmatory cohort), in 9 European countries, with AATD who were homozygous for the Pi*Z mutation, and 234 adults without the Pi*Z mutation (controls), all without pre-existing liver disease. We collected data on demographic parameters, comorbidities, lung- and liver-related health, and blood samples for laboratory analysis. Liver fibrosis was assessed non-invasively via the serum tests Aspartate Aminotransferase to Platelet Ratio Index and HepaScore and via transient elastography. Liver steatosis was determined via transient elastography-based controlled attenuation parameter. We performed histologic analyses of livers from transgenic mice that overexpress the AATD-associated Pi*Z variant. RESULTS: Serum levels of liver enzymes were significantly higher in Pi*ZZ carriers vs controls. Based on non-invasive tests for liver fibrosis, significant fibrosis was suspected in 20%–36% of Pi*ZZ carriers, whereas signs of advanced fibrosis were 9- to 20-fold more common in Pi*ZZ carriers compared to non-carriers. Male sex; age older than 50 years; increased levels of alanine aminotransferase, aspartate aminotransferase, or g-glutamyl transferase; and low numbers of platelets were associated with higher liver fibrosis burden. We did not find evidence for a relationship between lung function and liver fibrosis. Controlled attenuation parameter 280 dB/m, suggesting severe steatosis, was detected in 39% of Pi*ZZ carriers vs 31% of controls. Carriers of Pi*ZZ had lower serum concentrations of triglyceride and low- and very-lowdensity lipoprotein cholesterol than controls, suggesting impaired hepatic secretion of lipid. Livers from Pi*Zoverexpressing mice had steatosis and down-regulation of genes involved in lipid secretion. CONCLUSIONS: In studies of AATD adults with the Pi*ZZ mutation, and of Pi*Z-overexpressing mice, we found evidence of liver steatosisinfo:eu-repo/semantics/publishedVersio

Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers

Homozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among persons without preexisting liver disease.info:eu-repo/semantics/publishedVersio

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist

Sign language experience has little effect on face and biomotion perception in bimodal bilinguals

Abstract Sensory and language experience can affect brain organization and domain-general abilities. For example, D/deaf individuals show superior visual perception compared to hearing controls in several domains, including the perception of faces and peripheral motion. While these enhancements may result from sensory loss and subsequent neural plasticity, they may also reflect experience using a visual-manual language, like American Sign Language (ASL), where signers must process moving hand signs and facial cues simultaneously. In an effort to disentangle these concurrent sensory experiences, we examined how learning sign language influences visual abilities by comparing bimodal bilinguals (i.e., sign language users with typical hearing) and hearing non-signers. Bimodal bilinguals and hearing non-signers completed online psychophysical measures of face matching and biological motion discrimination. No significant group differences were observed across these two tasks, suggesting that sign language experience is insufficient to induce perceptual advantages in typical-hearing adults. However, ASL proficiency (but not years of experience or age of acquisition) was found to predict performance on the motion perception task among bimodal bilinguals. Overall, the results presented here highlight a need for more nuanced study of how linguistic environments, sensory experience, and cognitive functions impact broad perceptual processes and underlying neural correlates

Refusal of recommended travel-related vaccines among U.S. international travellers in Global TravEpiNet

Background: International travellers are at risk of travel-related, vaccine-preventable diseases. More data are needed on the proportion of travellers who refuse vaccines during a pre-travel health consultation and their reasons for refusing vaccines. Methods: We analyzed data on travellers seen for a pre-travel health consultation from July 2012 through June 2014 in the Global TravEpiNet (GTEN) consortium. Providers were required to indicate one of three reasons for a traveller refusing a recommended vaccine: (1) cost concerns, (2) safety concerns or (3) not concerned with the illness. We calculated refusal rates among travellers eligible for each vaccine based on CDC recommendations current at the time of travel. We used multivariable logistic regression models to examine the effect of individual variables on the likelihood of accepting all recommended vaccines. Results: Of 24 478 travellers, 23 768 (97%) were eligible for at least one vaccine. Travellers were most frequently eligible for typhoid (N = 20 092), hepatitis A (N = 12 990) and influenza vaccines (N = 10 539). Of 23 768 eligible travellers, 6573 (25%) refused one or more recommended vaccine(s). Of those eligible, more than one-third refused the following vaccines: meningococcal: 2232 (44%) of 5029; rabies: 1155 (44%) of 2650; Japanese encephalitis: 761 (41%) of 1846; and influenza: 3527 (33%) of 10 539. The most common reason for declining vaccines was that the traveller was not concerned about the illness. In multivariable analysis, travellers visiting friends and relatives (VFR) in low or medium human development countries were less likely to accept all recommended vaccines, compared with non-VFR travellers (OR = 0.74 (0.59–0.95)). Conclusions: Travellers who sought pre-travel health care refused recommended vaccines at varying rates. A lack of concern about the associated illness was the most commonly cited reason for all refused vaccines. Our data suggest more effective education about disease risk is needed for international travellers, even those who seek pre-travel advice

Synthesis of benzoxazoles <i>via</i> a silver mediated oxidation

A silver carbonate-based method to synthesize benzoxazoles from imines has been developed. The reaction is extremely mild, tolerates several heterocycles and functional groups, and provides highly functionalized benzoxazoles in modest to good yields. The reaction proceeds in an array of solvents and atmospheric conditions, demonstrating the robustness of this oxidation method and its ability to provide an alternative method for the easy preparation and isolation of these bioactive compounds.</p