bluuebunny/crossref_metadata_2025_split huggingface dataset:
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden
Authors: Westin Ida Maria , Jonsson Frida , Österman Lennart , Holmberg Monica , Burstedt Marie , Golovleva Irina 
Published: April 2021

AbstractRetinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of recessive RP worldwide, with prevalence of 5 to 30%. In this study, by using targeted NGS, MLPA and Sanger sequencing we uncovered the EYS gene as one of the most common genetic cause of autosomal recessive RP in northern Sweden accounting for at least 16%. The most frequent pathogenic variant was c.8648_8655del that in some patients was identified in cis with c.1155T>A, indicating Finnish ancestry. We also showed that two novel EYS variants, c.2992_2992+6delinsTG and c.3877+1G>A caused exon skipping in human embryonic kidney cells, HEK293T and in retinal pigment epithelium cells, ARPE-19 demonstrating that in vitro minigene assay is a straightforward tool for the analysis of intronic variants. We conclude, that whenever it is possible, functional testing is of great value for classification of intronic EYS variants and the following molecular testing of family members, their genetic counselling, and inclusion of RP patients to future treatment studies.
Identification of critical amino acid residues in the regulatory N-terminal domain of PMEL
Authors: Mitchell Susan M. , Graham Morven , Liu Xinran , Leonhardt Ralf M. 
Published: April 2021

AbstractThe pigment cell-specific protein PMEL forms a functional amyloid matrix in melanosomes onto which the pigment melanin is deposited. The amyloid core consists of a short proteolytic fragment, which we have termed the core-amyloid fragment (CAF) and perhaps additional parts of the protein, such as the PKD domain. A highly O-glycosylated repeat (RPT) domain also derived from PMEL proteolysis associates with the amyloid and is necessary to establish the sheet-like morphology of the assemblies. Excluded from the aggregate is the regulatory N-terminus, which nevertheless must be linkedin cisto the CAF in order to drive amyloid formation. The domain is then likely cleaved away immediately before, during, or immediately after the incorporation of a new CAF subunit into the nascent amyloid. We had previously identified a 21 amino acid long region, which mediates the regulatory activity of the N-terminus towards the CAF. However, many mutations in the respective segment caused misfolding and/or blocked PMEL export from the endoplasmic reticulum, leaving their phenotype hard to interpret. Here, we employ a saturating mutagenesis approach targeting the motif at single amino acid resolution. Our results confirm the critical nature of the PMEL N-terminal region and identify several residues essential for PMEL amyloidogenesis.
Metamorphic microdiamond formation is controlled by water activity, phase transitions and temperature
Authors: Kotková J. , Fedortchouk Y. , Wirth R. , Whitehouse M. J. 
Published: April 2021

AbstractMetamorphic diamonds hosted by major and accessory phases in ultrahigh-pressure (UHP) metamorphic terranes represent important indicators of deep subduction and exhumation of continental crust at convergent plate boundaries. However, their nucleation and growth mechanisms are not well understood due to their small size and diversity. The Bohemian microdiamond samples represent a unique occurrence of monocrystalline octahedral and polycrystalline cubo-octahedral microdiamonds in two different metasedimentary rock types. By combining new and published data on microdiamonds (morphology, resorption, associated phases, carbon isotope composition) with P–T constraints from their host rocks, we demonstrate that the peak P–T conditions for the diamond-bearing UHP rocks cluster along water activity-related phase transitions that determine the microdiamond features. With increasing temperature, the diamond-forming medium changes from aqueous fluid to hydrous melt, and diamond morphology evolves from cubo-octahedral to octahedral. The latter is restricted to the UHP-UHT rocks exceeding 1100 °C, which is above the incongruent melting of phengite, where microdiamonds nucleate along a prograde P–T path in silicate-carbonate hydrous melt. The observed effect of temperature on diamond morphology supports experimental data on diamond growth and can be used for examining growth conditions of cratonic diamonds from kimberlites, which are dominated by octahedra and their resorbed forms.
Comparison of Argentinean microbiota with other geographical populations reveals different taxonomic and functional signatures associated with obesity
Authors: Pesoa Susana A. , Portela Nestor , Fernández Eduardo , Elbarcha Osvaldo , Gotteland Martin , Magne Fabien 
Published: April 2021

AbstractAccumulating evidence suggests that various genetic and environmental factors contribute to the development of obesity. Among the latter, the gut microbiota has emerged as a critical player in the regulation of human metabolism and health and the development of non-communicable chronic diseases. Considering that no information on this matter is available in Argentina, our aim was to identify the microorganisms associated with obesity as well as their potential functionality. Using high throughput sequencing of 16SrRNA bacterial gene and diverse bioinformatics tools, we observed that the gut microbiota of obese and overweight individuals differs qualitatively and quantitatively from that from their lean counterparts. The comparison of the gut microbiota composition in obese subjects from Argentina, US and UK showed that the beta diversity significantly differs among the three countries, indicating that obesity-associated microbiota composition changes according to the geographical origin of the individuals. Moreover, four distinct microbiotypes were identified in obese individuals, whose prevalence and metabolic pathway signature differed according to the country, indicating that obesity associated dysbiosis would comprise several structures. In summary, identification of distinct taxonomic signatures associated with obesity might be a novel promising tool to stratify patients based on their microbiome configuration to design strategies for managing obesity.
Cardiometabolic diseases, frailty, and healthcare utilization and expenditure in community-dwelling Chinese older adults
Authors: Gao Ke , Li Bo-Lin , Yang Lei , Zhou Dan , Ding Kang-Xi , Yan Ju , Gao Ya-Jie , Huang Xiao-Rui , Zheng Xiao-Pu 
Published: April 2021

AbstractThis study investigated associations between cardiometabolic diseases, frailty, and healthcare utilization and expenditure among Chinese older adults. The participants were 5204 community-dwelling adults aged at least 60 years from the China Health and Retirement Longitudinal Study. Five cardiometabolic diseases were assessed including hypertension, dyslipidemia, diabetes, cardiac diseases and stroke. Frailty status was based on five criteria: slowness, weakness, exhaustion, inactivity, and shrinking. Participants were deemed frailty if they met at least three criteria. As the number of cardiometabolic diseases increased, so did the prevalence of frailty, and the proportion of healthcare utilization, including outpatient visit and inpatient visit. Moreover, the total healthcare expenditure and the odds of catastrophic health expenditure were increased with the number of cardiometabolic disorders. After adjusting for covariates, cardiometabolic diseases were positively associated with higher odds of frailty, incurring outpatient and inpatient visit. And individuals with 2 or more cardiometabolic diseases had a higher odds of catastrophic health expenditure than persons with non-cardiometabolic disease. Participants who were frailty were more likely to report higher odds of healthcare utilization. These findings suggest that both cardiometabolic diseases and frailty assessment may improve identification of older adults likely to require costly, extensive healthcare.
Non-destructive methods for fruit quality evaluation
Authors: Bratu Ana-Maria , Popa Cristina , Bojan Mihaela , Logofatu Petre Catalin , Petrus Mioara 
Published: April 2021

AbstractThis work studies the evolution in time of several varieties of apples with application in quality storage maintenance. Two different methods were used to evaluate long-stored apples for better sorting and degradation assessment. The first method was laser photoacoustic spectroscopy for the detection of ethylene and ethanol compounds from the internal atmosphere of apples. The second method was multispectral imaging that measures the image and the spectrum combined and also can be used to address features such as ripening and external defects. The experiments showed that, the ethylene value decreases and the value of ethanol increases, which sometimes we may associate with a drift of the images toward darker tones, because the apple is slowly degrading. Non-invasive, real-time inspection can reveal when the degradation process begins, improving the capability of sorting, maintaining their quality and storability.
Gas-mediated liquid metal printing toward large-scale 2D semiconductors and ultraviolet photodetector
Authors: Li Qian , Lin Ju , Liu Tian-Ying , Zhu Xi-Yu , Yao Wen-Hao , Liu Jing 
Published: April 2021

AbstractA gas-mediated fabrication of centimeter-scale two-dimensional (2D) semiconductors and ultraviolet photodetector by a liquid metal-based printing was reported. Various large-scale 2D materials (Ga2O3, In2O3, SnO) were demonstrated to be directly printed at ambient air on different substrates. Such printing represents a generic, fast, clean, and scalable technique to quickly manufacture 2D semiconductors. The electrical properties were explored to quantify the printed 2D films, which were somewhat deficient in previous studies. In particular, to explore and facilitate the advantages of this 2D semiconductor in functional electronic applications, strategies for realizing fully printed Ga2O3/Si heterojunction photodetector via low-temperature and low-cost processes were developed. The device exhibits excellent sensibility and rapid photoresponse times. This work offers feasible way to develop high-performance ultraviolet photodetector for mass production. It also suggests a promising direction for making large-scale 2D photoelectronic and electronic systems and is expected to be extensively useful in the coming time.
Facile antibacterial materials with turbine-like structure for P. aeruginosa infected scald wound healing
Authors: Tao Qin , Guo Lixia , Diao Haipeng , Feng Liheng 
Published: April 2021

Turbine-like organic molecules were developed and applied to the treatment of P. aeruginosa infected scald wounds. It effectively alleviates the dilemma that P. aeruginosa is prone to develop antimicrobial resistance during the disease treatment.
In situnanoscale visualization of solvent effects on molecular crystal surfaces
Authors: Herzberg Mikkel , Larsen Anders S. , Hassenkam Tue , Madsen Anders Ø. , Rantanen Jukka 
Published: April 2021

Atomic force microscopy and molecular dynamics simulations probed the crystallinity and hydrophobicity of a paracetamol crystal surface in water–ethanol mixtures. We observe the formation of a dynamic heterogenous disordered surface (DHDS) layer.
Pseudo-tetrahedral vs. pseudo-octahedral ErIII single molecule magnets and the disruptive role of coordinated TEMPO radical
Authors: Brzozowska Maria , Handzlik Gabriela , Kurpiewska Katarzyna , Zychowicz Mikołaj , Pinkowicz Dawid 
Published: April 2021

Tetrahedral ErIII complexes are potential candidates for high-performance single molecule magnets (SMMs).
Developmental Courses in Childhood Dysarthria: Longitudinal Analyses of Auditory-Perceptual Parameters
Authors: Haas Elisabet , Ziegler Wolfram , Schölderle Theresa 
Published: April 2021

Purpose
The aim of this longitudinal study was to describe developmental courses of childhood dysarthria against the background of typical speech motor development by collecting auditory-perceptual data.

Method
Fourteen children (four girls, 10 boys; 5;1–8;4 [years;months] at Time 1) with neurological conditions (CNC) and 14 typically developing children (CTD) matched for age and gender were assessed at three points in time over an 18-month period. Speech samples were collected using the Bogenhausener Dysarthrie Skalen–Kindliche Dysarthrien (BoDyS-KiD; in English: Bogenhausen Dysarthria Scales–Childhood Dysarthria), a German tool for the assessment of childhood dysarthria, and analyzed by means of nine perceptual scales covering all clinically relevant speech components. Age normalization was performed according to a method published recently. Data from the matched controls were used to estimate whether the gradients of the CNC group's developmental trajectories exceeded those of typical development.

Results
The children with neurological conditions presented heterogeneous speech profiles with a wide range of severity. At the group level, relatively stable trajectories of the age-normalized dysarthria total score were found over the observation period. The nine perceptual scales showed more or less parallel developments. All patients except two followed the growth curve describing the developmental course of the typically developing children.

Conclusions
Most children took advantage of the developmental dynamics as they developed parallel to the age norm. With its comprehensive description of the developmental courses of 14 children with neurological conditions, this study may contribute to a more valid, statistically verified clinical assessment of the course of childhood dysarthria.
Online Control of Voice Intensity in Late Bilinguals' First and Second Language Speech Production: Evidence From Unexpected and Brief Noise Masking
Authors: Cai Xiao , Yin Yulong , Zhang Qingfang 
Published: April 2021

Purpose
Speech production requires the combined efforts of feedforward control and feedback control subsystems. The primary purpose of this study is to explore whether the relative weighting of auditory feedback control is different between the first language (L1) and the second language (L2) production for late bilinguals. The authors also make an exploratory investigation into how bilinguals' speech fluency and speech perception relate to their auditory feedback control.

Method
Twenty Chinese–English bilinguals named Chinese or English bisyllabic words, while being exposed to 30- or 60-dB unexpected brief masking noise. Variables of language (L1 or L2) and noise condition (quiet, weak noise, or strong noise) were manipulated in the experiment. L1 and L2 speech fluency tests and an L2 perception test were also included to measure bilinguals' speech fluency and auditory acuity.

Results
Peak intensity analyses indicated that the intensity increases in the weak noise and strong noise conditions were larger in L2-English than L1-Chinese production. Intensity contour analysis showed that the intensity increases in both languages had an onset around 80–140 ms, a peak around 220–250 ms, and persisted till 400 ms post vocalization onset. Correlation analyses also revealed that poorer speech fluency or L2 auditory acuity was associated with larger Lombard effect.

Conclusions
For late bilinguals, the reliance on auditory feedback control is heavier in L2 than in L1 production. We empirically supported a relation between speech fluency and the relative weighting of auditory feedback control, and provided the first evidence for the production–perception link in L2 speech motor control.
A Cadaveric and Magnetic Resonance Imaging Investigation of the Salpingopharyngeus
Authors: Perta Karen , Kalmar Eileen , Bae Youkyung 
Published: April 2021

PurposeThe aim of the study was to update our information regarding the salpingopharyngeus (SP) muscle using cadaveric and in vivo magnetic resonance imaging (MRI) data. Primary objectives were to (a) observe the presence/absence of the muscle and (b) quantify and describe its dimensions and course.MethodSP specimens from 19 cadavers (10 women, nine men) were analyzed. Following head bisection, measurements of SP, including width of the cartilaginous attachment (CW) and width of the superior muscle base (SMW), were taken before and after removal of the overlying mucosa. In addition, SP was analyzed in 15 healthy subjects (eight men, seven women) using high-resolution three-dimensional MRI data. CW and SMW measures were replicated in the paraxial MRI view.ResultsThe presence of the salpingopharyngeal fold and muscle was confirmed bilaterally in all cadaveric and living subjects. Following mucosa removal, mean cadaveric CW and SMW measurements were 5.6 and 3.8 mm, respectively. Mean in vivo CW and SMW were 6.1 and 3.7 mm, respectively. Results from the hierarchical regression analyses revealed that, in both cadaveric and living groups, SMW is dependent on the relationship between age and body weight, after controlling for sex.ConclusionsThe salpingopharyngeal fold and SP muscle are always present bilaterally and can be quantified at the superior origin using both cadaveric and in vivo three-dimensional MRI data. Though both the superior origin and inferior course of SP are highly variable, the size of the SP muscle is dependent on characteristics known to affect muscle fibers, such as the relationship between age and body weight. Given the consistent and quantifiable presence of the SP muscle, its potential role in velopharyngeal function for speech and swallowing is reconsidered.Supplemental Materialhttps://doi.org/10.23641/asha.14347859
A Clinical Advantage: Experience Informs Recognition and Adaptation to a Novel Talker With Dysarthria
Authors: Borrie Stephanie A. , Lansford Kaitlin L. , Barrett Tyson S. 
Published: April 2021

PurposePerceptual training paradigms, which leverage the mechanism of perceptual learning, show that naïve listeners, those with no prior experience with dysarthria, benefit from explicit familiarization with a talker with dysarthria. It is theorized that familiarization affords listeners an opportunity to acquire distributional knowledge of the degraded speech signal. Here, we extend investigations to clinically experienced listeners, speech-language pathologists (SLPs), and advance models of listener recognition and adaptation to dysarthric speech.MethodForty-seven SLPs completed a standard three-phase perceptual training protocol (pretest, familiarization, and posttest) with a novel talker with dysarthria. Intelligibility scores were compared with historical data from naïve listeners. Potential relationships between intelligibility scores and characteristics of clinical experience were examined.ResultsIntelligibility scores of SLPs improved by an average of 19% from pretest to posttest. This intelligibility improvement was lower than naïve listeners, although the difference was small. Moreover, clinical characteristics related to level of dysarthria experience (e.g., percent of caseload composed of dysarthria) predicted pretest/initial intelligibility. No predictive relationships between clinical characteristics and intelligibility improvement were revealed.ConclusionsAs a group, SLPs benefitted from perceptual training, suggesting that, despite prior experience, the opportunity to acquire knowledge of talker-specific cue distributions is crucial for optimal adaptation. However, SLPs with greater dysarthria experience were better at initially understanding the talker with dysarthria. This suggests that, through regular interaction with individuals with dysarthria, clinicians acquire knowledge of the cue distributions of dysarthric speech more generally and can generalize this group-specific knowledge to aid in understanding other talkers with dysarthria. Consistent with theoretical models of perceptual learning, both talker- and group-specific knowledge informed recognition and adaptation to dysarthric speech.
Automating the Indian transportation system through intelligent searching and retrieving with Amazon Elastic Compute Cloud
Authors: Yadav Siddharth , Yadav Dileep Kumar , Budati Anil Kumar , Kumar Manoj , Suri Ajay 
Published: April 2021

AbstractThis article focusses on the problems associated with or unavailability of service in the Indian transportation system. Nowadays, web portal pages and Internet require most frequent search capability. In applying queries for data searches, this work procedure expressly demonstrates intriguing aspects of the query that utilize gathering terms. These gatherings are semantically correlated but separate from search results. The query is fired for the best travel route to make the travel system more intelligent. Such gatherings can be applied to real‐time applications such as those for airlines, trains, buses, and diverse and distinct flight travel classes to determine the lowest cost and shortest route. In this work, the gatherings are called query aspects. This work investigates a method for web applications that searches for data from a user search and generates a list of the shortest and lowest cost travel routes. A proposed intelligent algorithm is developed and analysed for searching data effectively. The user selects from a list of the low‐cost, shortest routes by the preferred mode of travel (flight/train/bus). The proposed method reduces customer dependency on solely vehicle (cab/bus/train) services, where prices may be too high and travel time too long. The proposed method demonstrates suitable performance by visualization of data against considered peer methods.
Solid tides in Io’s partially molten interior
Authors: Kervazo M. , Tobie G. , Choblet G. , Dumoulin C. , Běhounková M. 
Published: April 2021

Context.Io’s spectacular activity is driven by tidal dissipation within its interior, which may undergo a large amount of melting. While tidal dissipation models of planetary interiors classically assume that anelastic dissipation is associated only with shear deformation, seismological observation of the Earth has revealed that bulk dissipation might be important in the case of partial melting.Aims.Although tidal dissipation in a partially molten layer within Io’s mantle has been widely studied in order to explain its abnormally high heat flux, bulk dissipation has never been included. The aim of this study is to investigate the role of melt presence on both shear and bulk dissipation, and the consequences for the heat budget and spatial pattern of Io’s tidal heating.Methods.The solid tides of Io are computed using a viscoelastic compressible framework. The constitutive equation including bulk dissipation is derived and a synthetic rheological law for the dependence of the viscous and elastic parameters on the melt fraction is used to account for the softening of a partially molten silicate layer.Results.Bulk dissipation is found to be negligible for melt fraction below a critical value called rheological critical melt fraction. This corresponds to a sharp transition from the solid behavior to the liquid behavior, which typically occurs for melt fractions ranging between 25 and 40%. Above rheological critical melt fraction, bulk dissipation is found to enhance tidal heating up to a factor of ten. The thinner the partially molten layer, the greater the effect. The addition of bulk dissipation also drastically modifies the spatial pattern of tidal dissipation for partially molten layers.Conclusions.Bulk dissipation can significantly affect the heat budget of Io, possibly contributing from 50 to 90% of the global tidal heat power. More generally, bulk dissipation may play a key role in the tidally induced activity of extrasolar lava worlds.