bluuebunny/crossref_metadata_2025_split huggingface dataset:
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems
Authors: Mavioğlu Rezan Nehir , Kara Bülent , Akansel Gür , Nalbant Gökhan , Tolun Aslıhan 
Published: July 2019

AbstractIntellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G > T (p.Glu39*) in FAM160B1 in a 38‐year‐old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism. Recently homozygous missense c.248 T > C (p.Leu83Pro) was reported to underlie the ID syndrome in a 7‐year‐old boy and his two younger siblings. Some findings for those siblings overlap with those for our patient, but our patient does not have cutis laxa. Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1‐related ID, and describe the disease in a much older age.
FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects
Authors: Krenke Katarzyna , Szczałuba Krzysztof , Bielecka Teresa , Rydzanicz Małgorzata , Lange Joanna , Koppolu Agnieszka , Płoski Rafał 
Published: July 2019

AbstractPathogenic variants in genes encoding aminoacyl‐tRNA synthetases cause numerous disorders characterized by involvement of neurons, muscles, lungs and liver. Recently, biallelic FARSB defects have been shown to cause severe growth restriction with combined brain, liver and lung involvement (Rajab interstitial lung disease [ILD] with brain calcifications). Herein, for the first time, we present a patient with similar condition associated with biallelic mutations in FARSA (NM_004461.3: c.766T>C:p.Phe256Leu and c.1230C>A:p.Asn410Lys). Both detected FARSA variants are ultrarare and predicted to be damaging by in silico programs. Furthermore, they are both located in the active site of phenylalanyl‐tRNA synthetase (PheRS) with Asn410Lys directly affecting a residue forming the wall of the phenylalanine‐binding pocket. Clinical features shared between our patient and the FARSB syndrome include ILD with cholesterol pneumonitis, growth delay, hypotonia, brain calcifications with cysts and liver dysfunction. Our findings indicate that a disease similar to a syndrome associated with FARSB defects can also be caused by biallelic FARSA mutations. These findings are consistent with molecular structure of PheRS which is a tetramer including both FARSA and FARSB proteins.
The Relational SNARC: Spatial Representation of Nonsymbolic Ratios
Authors: Meng Rui , Matthews Percival G. , Toomarian Elizabeth Y. 
Published: July 2019

AbstractRecent research in numerical cognition has begun to systematically detail the ability of humans and nonhuman animals to perceive the magnitudes of nonsymbolic ratios. These relationally defined analogs to rational numbers offer new potential insights into the nature of human numerical processing. However, research into their similarities with and connections to symbolic numbers remains in its infancy. The current research aims to further explore these similarities by investigating whether the magnitudes of nonsymbolic ratios are associated with space just as symbolic numbers are. In two experiments, we found that responses were faster on the left for smaller nonsymbolic ratio magnitudes and faster on the right for larger nonsymbolic ratio magnitudes. These results further elucidate the nature of nonsymbolic ratio processing, extending the literature of spatial–numerical associations to nonsymbolic relative magnitudes. We discuss potential implications of these findings for theories of human magnitude processing in general and how this general processing relates to numerical processing.
Prognostic value of copeptin in patients with acute pulmonary thromboembolism
Authors: Deveci Figen , Öner Önsel , Telo Selda , Kırkıl Gamze , Balin Mehmet , Kuluöztürk Mutlu 
Published: July 2019

AbstractBackground and AimsThe aim of this study was to determine the level of copeptin, which is one of the new cardiac markers in acute pulmonary thromboembolism (PE) cases, and to determine the relationship between the severity of the disease, risk classification and hospital, first month, third month and 3‐month total mortality.MethodsThe study included 100 cases with PE and 60 healthy control subjects. Copeptin was measured in control group. The risk grade of the cases was determined according to the sPESI index. Patients survival data at the first and third months were determined. This study was performed in patients with strict exclusion criteria for comorbidities known to be associated with increased risk of PE.ResultssPESI was ≥1 in 68 (68%) of patients with acute PE. Mean serum copeptin levels were found statistically higher in patients with high risk compared to low‐risk cases and controls (9.18 ± 3.29, 6.47 ± 2.29, and 5.26 ± 2.15, P < 0.0001, respectively). When the cut‐off value of copeptin was taken as ≥7.87 with ROC analysis for predicting high sPESI score, the sensitivity of the copeptin was 78% and the specificity was 62% (AUC = 0.74, 95% CI = 0.63–0.85, P < <0.0001). When cases divided in the groups according to the cut‐off value as 7.87, first month hospital mortality and 3‐month total mortality rate was found statistically higher in patients with copeptin ≥7.87 (χ2 = 5.33 P < 0.05, χ2 = 3.88, P < 0.05 and χ2 = 4.26, P < 0.05 respectively).ConclusionsThe results of our study showed that increased serum copeptin levels might predict the severity of PE as well as a promising marker of early mortality in high‐risk cases according to sPESI.
Corpus In Flux: The Sonic Persona, Its Affordances & The Layers of an Institution
Authors: Schulze Holger 
Published: July 2019

AbstractWhat happens, when a sonic persona enters the museum? This contribution takes its start with the “Sonic Affordances” that predetermine any sonic experiences of a visitor in a museum, including three apparatuses that serve as major constraints: a) the historical usage, b) the contemporary technical installments and c) the security apparatuses. The second section, “The Disassembling of the Lectern,” explicates the ongoing cultural and technological transformations regarding a structural democraticization and dehierachisation taking place and the consequences regarding the forementioned constraints of the museum. In the final section, “In A Corporeal Flux,” this contribution outlines a possible utopia for curators and museums: how could exhibitions and museum presentations be organized and staged around and through sound and performativity in the near future?
A Curatorial Guide to Museum Sound Design
Authors: Everrett Tom 
Published: July 2019

AbstractSound is increasingly recognized as an important aspect of museum design. Yet there remain few resources available to curators on how to incorporate sound design principles into their exhibition projects. To address this need, this paper outlines a process‐based approach to museum sound design. This approach builds on, but also differs from, existing scholarly approaches in that it is written specifically from the perspective of integrating sound design principles into the exhibition development process. In this way, it aims to make sound design more attainable to working curators in the field, while also grounding museum sound theory more firmly in the realities of everyday curatorial practice.
Soundmarks as Objects of Curatorial Care
Authors: Kannenberg John 
Published: July 2019

AbstractIn the 1991 book Exhibiting Cultures: The poetics and politics of museum display, Stephen Greenblatt introduced the concept of a museological ‘resonance’: the idea that objects on display within a museum exhibition ‘resonate’, or generate new meanings, via their relationships with the visitors who observe and interact with them. This approach to meaning‐making has since impacted greatly upon the strategies museum curators follow when selecting and juxtaposing physical objects. This paper explores how Greenblatt’s notion of museological resonance could be applied to the display of sounds themselves as cultural objects within a museum context. A mixtape or playlist‐inspired approach to constructivist learning is proposed to re‐imagine how sounds might be able to function within traditionally object‐based museum exhibition. Soundmarks – sounds that reoccur within local communities which help to define their unique cultural identity – are presented as a potential area of research and collection by museums, while post‐industrial soundmarks such as traffic signals for the visually impaired and the interface sounds of public transport systems are suggested as deserving of curatorial care via an expanded notion of intangible cultural heritage.
Phenotyping progression of secondary mitral regurgitation in chronic systolic heart failure
Authors: Arfsten Henrike , Bartko Philipp E , Pavo Noemi , Heitzinger Gregor , Mascherbauer Julia , Hengstenberg Christian , Hülsmann Martin , Goliasch Georg 
Published: July 2019

AbstractBackgroundSecondary mitral regurgitation (sMR) drives adverse cardiac remodelling in patients with heart failure with reduced ejection fraction (HFrEF). Progression in severity over time contributes to a transition towards more advanced HF stages. Early identification of patients at risk for sMR progression remains challenging. We therefore sought to assess a broad spectrum of neurohumoral biomarkers in patients with HFrEF to explore their ability to predict progression of sMR.MethodsA total of 249 HFrEF patients were enrolled. Biomarkers encompassing key neurohumoral pathways in heart failure were sampled at baseline, and sMR progression was assessed over 3 years of follow‐up.ResultsOf 191 patients with nonsevere sMR at baseline, 18% showed progressive sMR within three years after study enrolment. Progression of sMR was associated with higher levels of MR‐proADM (adj.OR 2.25, 95% CI 1.29‐3.93; P = .004), MR‐proANP (adj.OR 1.84, 95% CI 1.14‐3.00; P = .012), copeptin (adj.OR 1.66, 95% CI 1.04‐2.67; P = .035) and CT‐pro‐ET1 (adj.OR 1.68, 95% CI 1.06‐2.68; P = .027) but not with NT‐proBNP (P = .54).ConclusionIncreased plasma levels of neurohumoral cardiac biomarkers are predictors of sMR progression in patients with HFrEF and add easily available incremental prognostic information for risk stratification. Importantly, NT‐proBNP was not useful to predict progressive sMR in the present analysis. On the contrary, MR‐proANP, primarily produced in the atria, copeptin partly triggered by intra‐cardiac and intra‐arterial pressures and MR‐proADM, a marker of forward failure and peripheral released vasoactive CT‐proET1, increase based on a progressive loading burden by sMR and may thus serve as better predictors of sMR progression.
A questionnaire‐based survey for the evaluation of the knowledge level of primary school teachers on first‐aid management of traumatic dental injuries in Athens, Greece
Authors: Tzimpoulas Nestor , Markou Maria , Zioutis Vasileios , Tzanetakis Giorgos N. 
Published: July 2019

AbstractBackground/AimSchool teachers can play an important role in improving the prognosis of traumatized teeth of school children through immediate onsite management or on time referral to healthcare providers. In Greece where the research in the field of dental traumatology is very limited, this issue is of utmost importance. The aim of this study was to evaluate the knowledge level of Greek primary school teachers and their attitude with regard to emergency first‐aid management of traumatic dental injuries (TDI) occurring in schools.Material and MethodsA cross‐sectional descriptive study among 276 school teachers was undertaken in Athens, Greece. This was done through a two‐part questionnaire‐based survey including demographic characteristics, attitude, and knowledge of first‐aid management of TDI. Data were analyzed using non‐parametric tests for differences. Log Poisson regression analysis was used to estimate relative risks of low or high knowledge of first‐aid management.ResultsThe risk of lower knowledge score was almost double in teachers with <10 years of teaching experience and almost threefold higher in those reporting that they are not interested in being informed about dental trauma. In the case of luxation injury, 69.9% of the participants would not take any immediate action and would refer the child to a dentist. In case of permanent tooth avulsion, 52.2% knew that the tooth can be replanted in the socket, whereas only 17% believed that this should be performed within 30 minutes. Most of the participants would send the child to their own/family dentist, whereas only 4.7% would refer to an Endodontist.ConclusionThe knowledge of primary school teachers in Greece about first‐aid management of TDI is limited. However, a clear positive association was found between knowledge of first‐aid management and teaching experience. Reliable information about dental trauma may result in improving the knowledge level of Greek primary school teachers.
Multi‐objective optimization for stochastic failure‐prone job shop scheduling problem via hybrid of NSGA‐II and simulation method
Authors: Amelian Sayed Shahab , Sajadi Seyed Mojtaba , Navabakhsh Mehrzad , Esmaelian Majid 
Published: July 2019

AbstractProduction scheduling and reliability of machinery are prominent issues in flexible manufacturing systems that are led to decreasing of production costs and increasing of system efficiency. In this paper, multiobjective optimization of stochastic failure‐prone job shop scheduling problem is sought wherein that job processing time seems to be controllable. It endeavours to determine the best sequence of jobs, optimal production rate, and optimum preventive maintenance period for simultaneous optimization of three criteria of sum of earliness and tardiness, system reliability, and energy consumption. First, a new mixed integer programming model is proposed to formulate the problem. Then, by combining of simulation and NSGA‐II algorithm, a new algorithm is put forward for solving the problem. A set of Pareto optimal solutions is achieved through this algorithm. The stochastic failure‐prone job shop with controllable processing times has not been investigated in the earlier research, and for the first time, a new hedging point policy is presented. The computational results reveal that the proposed metaheuristic algorithm converges into optimal or near‐optimal solution. To end, results and managerial insights for the problem are presented.
Terrestrial organic matter quantity or decomposition state does not compensate for its poor nutritional quality for Daphnia
Authors: Hiltunen Minna , Peltomaa Elina , Brett Michael T. , Aalto Sanni L. , Strandberg Ursula , Oudenampsen Jarno , Burgwal Léon M. , Taipale Sami J. 
Published: July 2019

Abstract

The importance of allochthonous organic matter contributions to aquatic food webs has long been debated. We studied the aging process of terrestrial particulate organic matter (tPOM) in aquatic ecosystems by incubating senescent plant material in the presence of natural microbial communities in either lake water or artificial growth medium. We hypothesised that the aging would change the biomarker composition of tPOM, and would improve its nutritional quality for Daphnia due to microbial conditioning. We also hypothesised that when algal availability is low, Daphnia can partially compensate for the low quality of tPOM when more of this resource is available to them.

The fatty acid biomarkers of tPOM changed very little during short‐ and long‐term incubations. In particular, the proportion of long‐chain saturated fatty acids was quite stable even during long‐term incubations. A decrease in carbohydrate and ω‐3 polyunsaturated fatty acid content, and an increase in the bacterial and fungal lipid biomarkers indicated that microbial decomposition of tPOM took place during the incubation. The δ15N value of aged tPOM increased, which indicated microbial colonisation, while the δ13C value did not change during aging.

Daphnia magna survival and reproductive output were low when fed diets containing fresh or aged tPOM. The reproductive output of Daphnia was slightly enhanced in the presence of aged tPOM as compared to fresh tPOM, but only when tPOM comprised ≥ 95% of the diet.

When Daphnia were offered low (0.5 mg C/L) concentrations of algae, even high additions of tPOM (up to 15 mg C/L) did not increase Daphnia growth rates. Daphnia reproduction increased with tPOM additions, presumably due to the sterols and ω‐3 polyunsaturated fatty acid in the tPOM that Daphnia retained from their diet.

Our results indicate that tPOM is a poor resource for pelagic cladocerans, even when aged in the presence of microbes or offered in large quantities.
Physicochemical, textural and volatile characteristics of fermented milk co‐cultured with Streptococcus thermophilus, Bifidobacterium animalis or Lactobacillus plantarum
Authors: Li Sining , Tang Shanhu , He Qiang , Gong Jiaxin , Hu Jiangxiao 
Published: July 2019

SummaryFermented milks were prepared with various culture combinations of Lactobacillus plantarum or Bifidobacterium animalis with Streptococcus thermophilus, and the impact of microbes combinations on acidification, proteolysis, lipolysis, texture, volatiles and sensory quality of fermented milk was investigated during 21‐day storage at 4 °C. The results showed that products from the co‐cultures displayed higher titratable acidity, more peptides, higher proteolytic activity and lipolysis capacity compared with that from the pure strains of S. thermophilus. When L. plantarum and B. animalis combined in a ratio of 2:1 with S. thermophilus, the products maintained relatively more viable cell counts of the 3 strains, strong proteolysis ability and lipolysis capacity during the storage. Milk fermented by co‐cultures of the 3 strains exhibited higher cohesiveness, more volatiles and better sensory quality compared with these fermented by S. thermophilus only or in co‐cultures with either B. animalis or L. plantarum based on principal component analysis.
Short‐term impact of androgen deprivation therapy on bone strength in castration‐sensitive prostate cancer
Authors: Kimura Takahiro , Koike Yusuke , Aikawa Koichi , Kimura Shoji , Mori Keiichiro , Sasaki Hiroshi , Miki Kenta , Watanabe Ken , Saito Mitsuru , Egawa Shin 
Published: July 2019

ObjectivesTo prospectively evaluate changes in bone quality and bone mineral density after androgen deprivation therapy in castration‐sensitive prostate cancer.MethodsA total of 32 patients with castration‐sensitive prostate cancer who were scheduled for androgen deprivation therapy for >12 months were included. The bone mineral density of the femoral neck and lumbar spine was evaluated before, and 6 and 12 months after androgen deprivation therapy. Bone metabolic (serum undercarboxylated osteocalcin, tartrate‐resistant acid phosphatase 5b and procollagen type I propeptides) and bone quality markers (plasma pentosidine and homocysteine) were measured before, and 3, 6 and 12 months after androgen deprivation therapy.ResultsThe median patient age was 71 years. A total of 17 patients were treated primarily with androgen deprivation therapy, and 15 were treated with androgen deprivation therapy in combination with definitive radiotherapy. Bone quality markers did not change substantially after androgen deprivation therapy. Bone mineral density decreased significantly after 12 months of androgen deprivation therapy. Serum undercarboxylated osteocalcin and tartrate‐resistant acid phosphatase 5b levels increased significantly 3 months after androgen deprivation therapy, but procollagen type I propeptides levels stayed unchanged.ConclusionsBone quality markers do not change substantially after androgen deprivation therapy, whereas bone mineral density decreases significantly. Bone turnover markers might play an important role in monitoring bone health during androgen deprivation therapy.
‘It's just a peripheral issue’: A qualitative analysis of mental health clinicians’ accounts of (not) addressing sexuality in their work
Authors: Urry Kristi , Chur‐Hansen Anna , Khaw Carole 
Published: July 2019

AbstractSexuality, relationships, and intimacy are integral parts of many peoples’ lives, not negated by mental distress and illness. Yet typically, these needs are not addressed adequately in mental health settings. In‐depth interviews were conducted with mental health clinicians with an aim of exploring their perceptions and understandings of sexuality and sexual concerns within mental health settings. Participants were 22 mental health nurses, psychologists, and psychiatrists working with people across a range of settings in four Australian cities. Sexuality or aspects of this were often not addressed in clinical practice, and this was common across participants’ accounts. A critical thematic analysis was conducted to explore how participants made sense of or explained this silence in relation to sexuality. Two key themes were ‘Sexuality is hard to talk about’ and ‘Sexuality is a “peripheral issue”’. In positioning sexuality as a peripheral issue, participants drew on three key explanations (sub‐themes): that sexuality rarely ‘comes up’, that it is not pragmatic to address sexuality, and that addressing sexuality is not part of participants’ roles or skill sets. A third theme captured the contrasting perception that ‘Sexuality could be better addressed’ in mental health settings. This analysis indicates that, beyond anticipated embarrassment, mental health clinicians from three disciplines account for omissions of sexuality from clinical practice in similar ways. Moreover, these accounts serve to peripheralize sexuality in mental health settings. We consider these results within the context of espoused holistic and recovery‐oriented principles in mental health settings.
Is there any difference in length measurement methods for pulpectomies in primary teeth?—A double‐blind, controlled clinical trial
Authors: de Alencar Nashalie Andrade , Oriano Marcela D'Avila , Bolan Michele , Cardoso Mariane 
Published: July 2019

AbstractBackgroundWorking length is an important step in primary teeth pulpectomy.AimTo evaluate whether there is a significant difference in the accuracy of electronic apex locators compared to the conventional radiography in working length measurements.DesignSixty‐four children (192 canals) between 5 and 9 years of age with indication for pulpectomy of a primary molar were included after eligibility criteria. A radiographic measurement was obtained from pre‐operative radiography from the cusp tip to the apex or resorption of the root. The electronic measurement was obtained from a complete measurement of the canal with an electronic device up to the apex. Data were analysed with Bland‐Altman plots and Wilcoxon test. Statistical significance was set at P ≤ .05.ResultsStatistically, there is not any significant difference between radiographic and electronic measurements for the palatal canal or distal canal, as well as mesiobuccal canals (P > .05). Statistically, there, however, is a significant difference between the measurements for the distobuccal canal and mesiolingual canal measurements (P < .05). High internal consistency for both radiographic and electronic methods was achieved (α ≅ 1).ConclusionsElectronic and radiographic methods are similar in determining the length measurement of the root canals in primary teeth pulpectomies, except in distobuccal or mesiolingual canals.