Search results for " PI"
showing 10 items of 6620 documents
Human voice pitch measures are robust across a variety of speech recordings: methodological and theoretical implications
2021
Fundamental frequency ( f o ), perceived as voice pitch, is the most sexually dimorphic, perceptually salient and intensively studied voice parameter in human nonverbal communication. Thousands of studies have linked human f o to biological and social speaker traits and life outcomes, from reproductive to economic. Critically, researchers have used myriad speech stimuli to measure f o and infer its functional relevance, from individual vowels to longer bouts of spontaneous speech. Here, we acoustically analysed f o in nearly 1000 affectively neutral speech utterances (vowels, words, counting, greetings, read paragraphs and free spontaneous speech) produced by the same 154 men and women, ag…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis
2015
Background and purpose: Tauroursodeoxycholic acid (TUDCA) is a hydrophilic bile acid that is produced in the liver and used for treatment of chronic cholestatic liver diseases. Experimental studies suggest that TUDCA may have cytoprotective and anti-apoptotic action, with potential neuroprotective activity. A proof of principle approach was adopted to provide preliminary data regarding the efficacy and tolerability of TUDCA in a series of patients with amyotrophic lateral sclerosis (ALS). Methods: As a proof of principle, using a double-blind placebo controlled design, 34 ALS patients under treatment with riluzole who were randomized to placebo or TUDCA (1 g twice daily for 54 weeks) were e…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
Evidence for a spatial bias in the perception of sequences of brief tones
2013
Listeners are unable to report the physical order of particular sequences of brief tones. This phenomenon of temporal dislocation depends on tone durations and frequencies. The current study empirically shows that it also depends on the spatial location of the tones. Dichotically testing a three-tone sequence showed that the central tone tends to be reported as the first or the last element when it is perceived as part of a left-to-right motion. Since the central-tone dislocation does not occur for right-to-left sequences of the same tones, this indicates that there is a spatial bias in the perception of sequences. © 2013 Acoustical Society of America.
Safety signs on agricultural machinery: Pictorials do not always successfully convey their messages to target users.
2015
This study investigated the extent to which a sample of Italian users comprehended safety pictorials used on agricultural machinery. A questionnaire with 12 safety pictorials was administered to 248 users of agricultural machinery. For each of the pictorials, the participants were asked to select the most appropriate description of four written choices. The investigated safety pictorials were, in general, not well comprehended. Two different classes of participants were identified, each with a different level of comprehension. The participants with better comprehension were characterized by the regular use of agricultural machinery and frequent previous exposure to pictorials. The need for …
No evidence for a correlation of glutathione S-tranferase polymorphisms and chronic rhinosinusitis.
2011
OBJECTIVE: Cellular detoxification mechanisms are mandatory for cellular protection against oxidative stress and reactive oxygen species. One major group of antioxidative active enzymes involved in cellular detoxification are the Glutathione S-Transferases (GST). Multiple subtypes like GSTM1, GSTP1, and GSTT1 and variants of them are known, arising from allelic variations of the GST loci. Moreover, functional variants occur in high percentages and have been associated with diseases like bronchial asthma and bronchial hyperresponsiveness. The interplay of oxidative stress, detoxifying genes like GSTs and the genesis of respiratory tract illness is under contradictory debate. In this study, w…
Positive erotic picture stimuli for emotion research in heterosexual females
2011
In most experimental studies, emotional pictures are widely used as stimulus material. However, there is still a lack of standardization of picture stimuli displaying erotic relationships, despite the association between a number of psychological problems and severe impairments and problems in intimate relationships. The aim of the study was to test a set of erotic stimuli, with the potential to be used in experimental studies, with heterosexual female subjects. Twenty International Affective Picture System (IAPS) pictures and an additional 100 pictures showing romantic but not explicitly sexual scenes and/or attractive single males were selected. All pictures were rated with respect to val…
The sound of music: differentiating musicians using a fast, musical multi-feature mismatch negativity paradigm.
2011
Abstract Musicians’ skills in auditory processing depend highly on instrument, performance practice, and on level of expertise. Yet, it is not known though whether the style/genre of music might shape auditory processing in the brains of musicians. Here, we aimed at tackling the role of musical style/genre on modulating neural and behavioral responses to changes in musical features. Using a novel, fast and musical sounding multi-feature paradigm, we measured the mismatch negativity (MMN), a pre-attentive brain response, to six types of musical feature change in musicians playing three distinct styles of music (classical, jazz, rock/pop) and in non-musicians. Jazz and classical musicians sco…
Two Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome
2007
Purpose: We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1). Methods: Cytogenetic analyses using Giemsa banding and FISH methods, and array CGH were performed. Results: Array CGH analyses did not show altered DNA sequences in the breakpoints of the translocation, but revealed two novel deletions in 2q22.1 and 18q22.1. Conclusion: We suppose that the coexistence of t(10;15) and pigment dispersion syndrome in our patient is a coincidence. The deletion in 2q22.1, where the gene LRP1B has been located, may play a major role in the dysembryogenesis of the eye and cause the disorder.