bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation‐prone Ano5 peptide
Authors: Xu Jing , Xu Li , Lau Yeh Siang , Gao Yandi , Moore Steven A , Han Renzhi 
Published: January 2018

AbstractMutations in ANO5 cause several human diseases including gnathodiaphyseal dysplasia 1 (GDD1), limb‐girdle muscular dystrophy 2L (LGMD2L), and Miyoshi myopathy 3 (MMD3). Previous work showed that complete genetic disruption of Ano5 in mice did not recapitulate human muscular dystrophy, while residual expression of mutant Ano5 in a gene trapped mouse developed muscular dystrophy with defective membrane repair. This suggests that truncated Ano5 expression may be pathogenic. Here, we screened a panel of commercial anti‐Ano5 antibodies using a recombinant adenovirus expressing human Ano5 with FLAG and YFP at the N‐ and C‐terminus, respectively. The monoclonal antibody (mAb) N421A/85 was found to specifically detect human Ano5 by immunoblotting and immunofluorescence staining. The antigen epitope was mapped to a region of 28 residues within the N‐terminus. Immunofluorescence staining of muscle cryosections from healthy control subjects showed that Ano5 is localized at the sarcoplasmic reticulum. The muscle biopsy from a LGMD2L patient homozygous for the c.191dupA mutation showed no Ano5 signal, confirming the specificity of the N421A/85 antibody. Surprisingly, strong Ano5 signal was detected in a patient with compound heterozygous mutations (c.191dupA and a novel splice donor site variant c.363 + 4A > G at the exon 6–intron 6 junction). Interestingly, insertion of the mutant intron 6, but not the wild‐type intron 6, into human ANO5 cDNA resulted in a major transcript that carried the first 158‐bp of intron 6. Transfection of the construct encoding the first 121 amino acids into C2C12 cells resulted in protein aggregate formation, suggesting that aggregate‐forming Ano5 peptide may contribute to the pathogenesis of muscular dystrophy.
Peritoneal carcinomatosis after risk‐reducing surgery in BRCA1/2 mutation carriers
Authors: Harmsen Marline G. , Piek Jurgen M. J. , Bulten Johan , Casey Murray J. , Rebbeck Timothy R. , Mourits Marian J. , Greene Mark H. , Slangen Brigitte F. M. , van Beurden Marc , Massuger Leon F. A. G. , Hoogerbrugge Nicoline , de Hullu Joanne A. 
Published: January 2018

BACKGROUNDRisk‐reducing salpingo‐oophorectomy (RRSO) is recommended for BRCA1/2 mutation carriers because of their increased risk of ovarian carcinoma. Despite RRSO, metachronous peritoneal carcinomatosis occasionally is diagnosed.METHODSThe literature was searched for BRCA1/2 mutation carriers with peritoneal carcinomatosis after risk‐reducing surgery. The authors were asked for additional data. Clinical and histopathological data were descriptively analyzed. Cases were compared with a single‐institution control cohort.RESULTSOf 36 cases, 86.1% concerned BRCA1 mutation carriers. The median age of the patients was 52 years (range, 30‐71 years) at the time of risk‐reducing surgery and 60 years (range, 37‐75 years) at the time of diagnosis of peritoneal carcinomatosis. The median interval between the 2 events was 54.5 months (range, 11‐292 months). Peritoneal carcinomatosis was mostly high‐grade serous carcinoma. Histopathological details of the RRSO specimens were retrieved in 8 cases; 5 (62.5%) were found to have serous tubal intraepithelial carcinoma and 1 had epithelial atypia. Cases were older (P = .025) at the time of risk‐reducing surgery and harbored more serous tubal intraepithelial carcinomas (P<.001) compared with women from the control cohort.CONCLUSIONSMetachronous peritoneal carcinomatosis after risk‐reducing surgery occurs predominantly in BRCA1 mutation carriers, usually within 5 years. Data have suggested that surgery at a younger age lowers the rates of peritoneal carcinomatosis. These data can be used in the gynecologic counseling of BRCA1/2 mutation carriers. RRSO should include complete salpingectomy. Detailed histopathological examination of specimens removed during RRSO is essential. Cancer 2018;124:952‐9. © 2018 American Cancer Society.
Lifestyle factors and subsequent ischemic heart disease risk after hematopoietic cell transplantation
Authors: Leger Kasey J. , Baker K. Scott , Cushing‐Haugen Kara L. , Flowers Mary E. D. , Leisenring Wendy M. , Martin Paul J. , Mendoza Jason A. , Reding Kerryn W. , Syrjala Karen L. , Lee Stephanie J. , Chow Eric J. 
Published: January 2018

BACKGROUNDThe objective of this study was to evaluate whether modifiable cardiovascular risk conditions and lifestyle factors were temporally associated with an increased risk for ischemic heart disease and overall mortality in a cohort of hematopoietic cell transplantation (HCT) survivors.METHODSHCT recipients who had survived for ≥1 year, were ≥20 years old, and had undergone transplantation between 1970 and 2010 at a transplant referral center were surveyed in 2010‐2011 about cardiovascular health and lifestyle factors (n = 3833). Respondents (n = 2360 [61.6%]) were followed to 2016 for incident ischemic heart disease and overall mortality.RESULTSAmong the 2360 transplant survivors (median age at the baseline survey, 55.9 years; median time since transplantation, 10.8 years), 162 (6.9%) reported ischemic heart disease at the baseline survey. Among those without ischemic heart disease at the baseline survey (n = 2198), the 5‐year cumulative incidence of subsequent ischemic heart disease was 4.3%. Obesity, dyslipidemia, diabetes, and physical inactivity at baseline were associated with an increased risk for subsequent ischemic heart disease (hazard ratio [HRs] ≥ 1.8). Greater physical activity and fruit/vegetable intake at baseline were associated with subsequent lower overall mortality (HRs ≤ 0.7). When jointly considered, each additional cardiovascular risk condition and each adverse lifestyle factor were independently associated with subsequent ischemic heart disease (HR for risk conditions, 1.4; 95% confidence interval [CI], 1.0‐1.9; HR for lifestyle factors, 1.9; 95% CI, 1.2‐2.9), and adverse lifestyle factors remained associated with overall mortality (HR, 1.8; 95% CI, 1.5‐2.3).CONCLUSIONSThese results support strong efforts to promote healthy lifestyle behaviors and to treat cardiovascular risk factors aggressively in HCT survivors. This may reduce future ischemic heart disease and overall mortality in this high‐risk population. Cancer 2018;124:1507‐15. © 2018 American Cancer Society.
Effect of heated‐air blanket on the dispersion of squames in an operating room
Authors: He X. , Karra S. , Pakseresht P. , Apte S. V. , Elghobashi S. 
Published: January 2018

AbstractHigh‐fidelity, predictive fluid flow simulations of the interactions between the rising thermal plumes from forced air warming blower and the ultra‐clean ventilation air in an operating room (OR) are conducted to explore whether this complex flow can impact the dispersion of squames to the surgical site. A large‐eddy simulation, accurately capturing the spatiotemporal evolution of the flow in 3 dimensions together with the trajectories of squames, is performed for a realistic OR consisting of an operating table (OT), side tables, surgical lamps, medical staff, and a patient. Two cases are studied with blower‐off and blower‐on together with Lagrangian trajectories of 3 million squames initially placed on the floor surrounding the OT. The large‐eddy simulation results show that with the blower‐off, squames are quickly transported by the ventilation air away from the table and towards the exit grilles. In contrast, with the hot air blower turned on, the ventilation airflow above and below the OT is disrupted significantly. The rising thermal plumes from the hot air blower drag the squames above the OT and the side tables and then they are advected downwards toward the surgical site by the ventilation air from the ceiling. Temporal history of the number of squames reaching 4 imaginary boxes surrounding the side tables, the OT, and the patient's knee shows that several particles reach these boxes for the blower‐on case.
Nanoparticle Probes for Super‐Resolution Fluorescence Microscopy
Authors: Lin Youhui , Nienhaus Karin , Nienhaus Gerd Ulrich 
Published: January 2018

AbstractThe Abbe resolution limit of ∼200 nm of conventional light‐optical microscopy greatly restricts the observation of subcellular processes. This Abbe resolution barrier has been surpassed by super‐resolution fluorescence microscopy methods that use time as an additional dispersing dimension. Light irradiation can be employed to externally control the emission properties of the luminescent markers, or spontaneous fluctuations of the emission of individual emitters can be analyzed. Here we review the development and application of light‐emitting nanoscale particles for super‐resolution imaging and discuss their (photo)physical and (photo)chemical characteristics to offer guidance in the selection of the optimal nanoparticle marker for an intended super‐resolution imaging experiment.
Intelligent vehicle navigation system with assistance and alerting capabilities
Authors: Vochin Marius , Zoican Sorin , Borcoci Eugen 
Published: January 2018

SummaryNavigation assistance systems are aiming to improve safety and provide traffic optimization and have become more and more popular in a modern vehicular technology. The reason is given by the significant traffic increase and numerous congestion events in large cities, large complexity of road infrastructure, and unexpected or hazardous conditions that can be found on roads. This paper proposes an innovative navigation system solution that intelligently gathers traffic data provided by integrated car sensors and/or onboard security systems and uses it to warn other participants. System concepts, architecture, design, implementation, and performance evaluation aspects are presented, and tasks organization for an embedded cost‐effective implementation using a real‐time kernel is illustrated.
Boosting the NMR Assignment of Carbohydrates with Clean In‐Phase Correlation Experiments
Authors: Gyöngyösi Tamás , Timári István , Haller Jens , Koos Martin R. M. , Luy Burkhard , Kövér Katalin E. 
Published: January 2018

AbstractNovel CLIP‐COSY based homo‐ and heteronuclear correlation experiments are reported for the rapid, semi‐automated NMR assignment of small to medium‐sized molecules. The homonuclear CLIP‐COSY and corresponding relayed experiments employ the perfect‐echo based mixing sequence for in‐phase coherence transfer between directly and/or indirectly coupled proton spins. The combined analysis of the resulting CLIP‐COSY and relayed spectra made it possible to easily track down, layer by layer, the proton–proton connectivity network. In larger molecules the narrow chemical shift range of protons may, however, compromise the efficacy of the homonuclear correlation based assignment strategy. To overcome this limitation, an HSQC variant of the CLIP‐COSY experiment has now been devised. Combined treatment of HSQC‐CLIP‐COSY (relayed) and standard HSQC spectra facilitates simultaneous and semi‐automatic assignment of 1H and 13C resonances of medium‐sized molecules, such as pentasaccharides. The recently introduced PSYCHE broadband homonuclear decoupling scheme has been also implemented into the devised homo‐ and heteronuclear CLIP‐COSY based experiments, resulting in fully decoupled high‐resolution pure‐shift correlation spectra.
Methylation of Polyols with Trimethylphosphate in the Presence of a Lewis or Brønsted Acid Catalyst
Authors: Duclos Marie‐Christine , Herbinski Aurélien , Mora Anne‐Sophie , Métay Estelle , Lemaire Marc 
Published: January 2018

AbstractThe alkylation of alcohols and polyols has been investigated with alkylphosphates in the presence of a Lewis or Brønsted acid catalyst. The permethylation of polyols was developed under solvent‐free conditions at 100 °C with either iron triflate or Aquivion PW98, affording the isolated products in yields between 52 and 95 %. The methodology was also adjusted to carry out peralkylation with longer alkyl chains.
A standardized flow cytometry procedure for the monitoring of regulatory T cells in clinical trials
Authors: Pitoiset Fabien , Barbié Michèle , Monneret Guillaume , Braudeau Cécile , Pochard Pierre , Pellegrin Isabelle , Trauet Jacques , Labalette Myriam , Klatzmann David , Rosenzwajg Michelle 
Published: January 2018

BackgroundQuantification of regulatory T cells (Tregs) is crucial in immunomonitoring in clinical trials as this cell population has been shown to be involved in a wide range of diseases, including cancers, autoimmune diseases, infections, and allergies. Human Tregs are defined as CD4+ CD25+ CD127low FoxP3+ cells, and the standardization of their staining by flow cytometry is a challenge, especially in multicenter clinical trials, notably because of the intracellular location of FoxP3.MethodA flow cytometry staining procedure was settled and standardized to measure human Tregs in peripheral whole blood using precoated dried antibodies in ready‐to‐use tubes. It was compared with reference methods and implemented and validated to be suitable with different cytometer platforms.ResultsThe standardized protocol developed with dried antibodies and reduced volumes of whole blood allows an optimal identification of Tregs. Compared with classical staining procedure, it reduces the number of steps required, in a very fast and simple technique. The accuracy of the method was confirmed by a multicenter comparison with different cytometer brands.ConclusionsOur results highlight the reliability of this high‐standard protocol that could become a reference method for the monitoring of Tregs in clinical trials. © 2018 International Clinical Cytometry Society
Tracking the effects of dyslexia in reading and spelling development: A longitudinal study of Greek readers
Authors: Diamanti Vassiliki , Goulandris Nata , Stuart Morag , Campbell Ruth , Protopapas Athanassios 
Published: January 2018

In this study, we followed Greek children with and without dyslexia for 18 months, assessing them twice on a battery of phonological, reading, and spelling tasks, aiming to document the relative progress achieved and to uncover any specific effects of dyslexia in the development of reading and spelling beyond the longitudinal associations among variables that are observed in typical readers. A wide‐ranging match was achieved between the dyslexic group and the younger reading‐matched comparison group, enabling longitudinal comparisons on essentially identical initial performance profiles. Group differences were found in the development of tasks relying on phonological processing skill, such as phoneme deletion in pseudowords, pseudoword reading accuracy and time, as well as in graphemic spelling accuracy. The results confirm findings from cross‐sectional studies of reading difficulty in the relatively transparent Greek orthography and are consistent with a phonological processing deficit underlying and reciprocally interacting with underdevelopment of reading and spelling skills in the impaired population.
Random species loss underestimates dilution effects of host diversity on foliar fungal diseases under fertilization
Authors: Liu Xiang , Chen Fei , Lyu Shengman , Sun Dexin , Zhou Shurong 
Published: January 2018

AbstractWith increasing attention being paid to the consequences of global biodiversity losses, several recent studies have demonstrated that realistic species losses can have larger impacts than random species losses on community productivity and resilience. However, little is known about the effects of the order in which species are lost on biodiversity–disease relationships. Using a multiyear nitrogen addition and artificial warming experiment in natural assemblages of alpine meadow vegetation on the Qinghai‐Tibetan Plateau, we inferred the sequence of plant species losses under fertilization/warming. Then the sequence of species losses under fertilization/warming was used to simulate the species loss orders (both realistic and random) in an adjacently novel removal experiment manipulating plot‐level plant diversity. We explicitly compared the effect sizes of random versus realistic species losses simulated from fertilization/warming on plant foliar fungal diseases. We found that realistic species losses simulated from fertilization had greater effects than random losses on fungal diseases, and that species identity drove the diversity–disease relationship. Moreover, the plant species most prone to foliar fungal diseases were also the least vulnerable to extinction under fertilization, demonstrating the importance of protecting low competence species (the ability to maintain and transmit fungal infections was low) to impede the spread of infectious disease. In contrast, there was no difference between random and realistic species loss scenarios simulated from experimental warming (or the combination of warming and fertilization) on the diversity–disease relationship, indicating that the functional consequences of species losses may vary under different drivers.
Multiscale landscape genomic models to detect signatures of selection in the alpine plant Biscutella laevigata
Authors: Leempoel Kevin , Parisod Christian , Geiser Céline , Joost Stéphane 
Published: January 2018

AbstractPlant species are known to adapt locally to their environment, particularly in mountainous areas where conditions can vary drastically over short distances. The climate of such landscapes being largely influenced by topography, using fine‐scale models to evaluate environmental heterogeneity may help detecting adaptation to micro‐habitats. Here, we applied a multiscale landscape genomic approach to detect evidence of local adaptation in the alpine plant Biscutella laevigata. The two gene pools identified, experiencing limited gene flow along a 1‐km ridge, were different in regard to several habitat features derived from a very high resolution (VHR) digital elevation model (DEM). A correlative approach detected signatures of selection along environmental gradients such as altitude, wind exposure, and solar radiation, indicating adaptive pressures likely driven by fine‐scale topography. Using a large panel of DEM‐derived variables as ecologically relevant proxies, our results highlighted the critical role of spatial resolution. These high‐resolution multiscale variables indeed indicate that the robustness of associations between genetic loci and environmental features depends on spatial parameters that are poorly documented. We argue that the scale issue is critical in landscape genomics and that multiscale ecological variables are key to improve our understanding of local adaptation in highly heterogeneous landscapes.
Meta‐barcoding insights into the spatial and temporal dietary patterns of the threatened Asian Great Bustard (Otis tarda dybowskii) with potential implications for diverging migratory strategies
Authors: Liu Gang , Shafer Aaron B. A. , Hu Xiaolong , Li Linhai , Ning Yu , Gong Minghao , Cui Lijuan , Li Huixin , Hu Defu , Qi Lei , Tian Hengjiu , Wang Bojun 
Published: January 2018

AbstractFood resources are often not sufficient to satisfy the nutritional and energetic requirements during winter conditions at high latitudes. Dietary analysis is a prerequisite to fully understanding the feeding ecology of a species and the nature of trophic interactions. Previous dietary studies of Asian Great Bustard (Otis tarda dybowskii) relied on behavioral observations, resulting in categorization of diet limited to broad taxonomic groupings. Here, we applied a high‐throughput sequencing meta‐barcoding approach to quantify the diet of resident and migratory Asian Great Bustard in three wintering sites during early winter and late winter. We detected 57 unique plant taxa in the bustard diet, among which 15 species were confirmed by a local plant database we generated. Both agricultural and natural foods were detected, indicating a relatively broad dietary niche. Spatiotemporal dietary changes were discovered, revealing diet differences among wintering sites and a general shift toward lower plant diversity later in winter. For the nonmigratory population, we detected a significantly more diverse array of plant species in their diet. We hypothesize that dietary variation between resident and migratory populations could be involved in the recent transition to partial migration in this species, although climate change can not be excluded. Collectively, these results support protecting unharvested grain fields and naturally unplowed lands to help conserve and promote population growth of Asian Great Bustard.
Transcriptome response of Atlantic salmon (Salmo salar) to competition with ecologically similar non‐native species
Authors: He Xiaoping , Houde Aimee Lee S. , Neff Bryan D. , Heath Daniel D. 
Published: January 2018

AbstractNon‐native species may be introduced either intentionally or unintentionally, and their impact can range from benign to highly disruptive. Non‐native salmonids were introduced into Lake Ontario, Canada, to provide recreational fishing opportunities; however, the establishment of those species has been proposed as a significant barrier to the reintroduction of native Atlantic salmon (Salmo salar) due to intense interspecific competition. In this study, we compared population differences of Atlantic salmon in transcriptome response to interspecific competition. We reared Atlantic salmon from two populations (LaHave River and Sebago Lake) with fish of each of three non‐native salmonids (Chinook salmon Oncorhynchus tshawytscha, rainbow trout O. mykiss, and brown trout S. trutta) in artificial streams. We used RNA‐seq to assess transcriptome differences between the Atlantic salmon populations and the responses of these populations to the interspecific competition treatments after 10 months of competition in the stream tanks. We found that population differences in gene expression were generally greater than the effects of interspecific competition. Interestingly, we found that the two Atlantic salmon populations exhibited similar responses to interspecific competition based on functional gene ontologies, but the specific genes within those ontologies were different. Our transcriptome analyses suggest that the most stressful competitor (as measured by the highest number of differentially expressed genes) differs between the two study populations. Our transcriptome characterization highlights the importance of source population selection for conservation applications, as organisms with different evolutionary histories can possess different transcriptional responses to the same biotic stressors. The results also indicate that generalized predictions of the response of native species to interactions with introduced species may not be appropriate without incorporating potential population‐specific response to introduced species.
Meandering Coplanar Line Type Thin‐Film Magnetic Field Sensor with Direct Bias
Authors: YABUKAMI SHIN , UETAKE HIROAKI , MORIYA KENTA , TOMINAMI TSUYOSHI , ONODERA HIDEHIKO 
Published: January 2018

SUMMARYWe propose a new simple method to directly apply dc current to the CoNbZr/Cu film of a sensor. A very sensitive thin‐ film sensor was developed using a meandering coplanar line with biasing conductors fabricated from SrTiO film (0.75 μm thick), amorphous Co85Nb12Zr3 film (1.0 mm × 2.45 mm, 1 μm thick) and Cu/Cr film (2 μm/0.1 μm). We discuss direct bias to CoNbZr film and Cu film under a CoNbZr film and compare it with an application of bias magnetic field. Good sensitivity (phase change over 100 degrees/Oe) was obtained by the proposed method.