bluuebunny/crossref_metadata_2025_split huggingface dataset:
The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
Authors: Volk Alexander E. , Kubisch Christian 
Published: June 2017

Purpose of review
The development of massively parallel sequencing (MPS) has revolutionized molecular genetic diagnostics in monogenic disorders. The present review gives a brief overview of different MPS-based approaches used in clinical diagnostics of neuromuscular disorders (NMDs) and highlights their advantages and limitations.

Recent findings
MPS-based approaches like gene panel sequencing, (whole) exome sequencing, (whole) genome sequencing, and RNA sequencing have been used to identify the genetic cause in NMDs. Although gene panel sequencing has evolved as a standard test for heterogeneous diseases, it is still debated, mainly because of financial issues and unsolved problems of variant interpretation, whether genome sequencing (and to a lesser extent also exome sequencing) of single patients can already be regarded as routine diagnostics. However, it has been shown that the inclusion of parents and additional family members often leads to a substantial increase in the diagnostic yield in exome-wide/genome-wide MPS approaches. In addition, MPS-based RNA sequencing just enters the research and diagnostic scene.

Summary
Next-generation sequencing increasingly enables the detection of the genetic cause in highly heterogeneous diseases like NMDs in an efficient and affordable way. Gene panel sequencing and family-based exome sequencing have been proven as potent and cost-efficient diagnostic tools. Although clinical validation and interpretation of genome sequencing is still challenging, diagnostic RNA sequencing represents a promising tool to bypass some hurdles of diagnostics using genomic DNA.
Quantifying the Risk and Cost of Active Monitoring for Infectious Diseases
Authors: Reich Nicholas G , Lessler Justin , Varma Jay K , Vora Neil M 
Published: June 2017

AbstractDuring outbreaks of deadly emerging pathogens (e.g., Ebola, MERS-CoV) and bioterror threats (e.g., smallpox), actively monitoring potentially infected individuals aims to limit disease transmission and morbidity. Guidance issued by CDC on active monitoring was a cornerstone of its response to the West Africa Ebola outbreak. There are limited data on how to balance the costs and performance of this important public health activity. We present a framework that estimates the risks and costs of specific durations of active monitoring for pathogens of significant public health concern. We analyze data from New York City’s Ebola active monitoring program over a 16-month period in 2014-2016. For monitored individuals, we identified unique durations of active monitoring that minimize expected costs for those at “low (but not zero) risk” and “some or high risk”: 21 and 31 days, respectively. Extending our analysis to smallpox and MERS-CoV, we found that the optimal length of active monitoring relative to the median incubation period was reduced compared to Ebola due to less variable incubation periods. Active monitoring can save lives but is expensive. Resources can be most effectively allocated by using exposure-risk categories to modify the duration or intensity of active monitoring.
The Mouse Cortical Interareal Network Reveals Well Defined Connectivity Profiles and an Ultra Dense Cortical Graph
Authors: Gămănuţ Răzvan , Kennedy Henry , Toroczkai Zoltán , Van Essen David , Knoblauch Kenneth , Burkhalter Andreas 
Published: June 2017

AbstractThe inter-areal wiring pattern of mouse cerebral cortex was analyzed in relation to an accurate parcellation of cortical areas. Twenty-seven retrograde tracer injections were made in 19 areas of a 41 area (plus 7 sub-area) parcellation of the mouse neo-, parahippocampal and perirhinal cortex. Flat mounts of the cortex and multiple histological markers enabled detailed counts of labeled neurons in individual areas. A weight index was determined for each area-to-area pathway based on the Fraction of Extrinsically Labeled Neurons (FLNe). Data analysis allowed cross species comparison with the macaque. Estimation of FLNe statistical variability based on repeat injections revealed high consistency across individuals and justifies using a single injection per area to characterize connectivity. The observed lognormal distribution of connections to each cortical area spanned 5 orders of magnitude and revealed a distinct connectivity profile for each area, analogous to that observed in macaque. The resulting graph has a density of 97% (i.e. 97% of connections that can exist do exist), considerably higher than the 66% density reported for the macaque. Our results provide more sharply defined connectivity profiles and a markedly higher graph density than shown in a recent probabilistic mouse connectome.
Superior Colliculus Neuronal Ensemble Activity Signals Optimal Rather Than Subjective Confidence
Authors: Odegaard Brian , Grimaldi Piercesare , Cho Seong Hah , Peters Megan A.K. , Lau Hakwan , Basso Michele A. 
Published: June 2017

AbstractRecent studies suggest that neurons in sensorimotor circuits involved in perceptual decision-making also play a role in decision confidence. In these studies, confidence is often considered to be an optimal readout of the probability that a decision is correct. However, the information leading to decision accuracy and the report of confidence often co-varied, leaving open the possibility that there are actually two dissociable signal types in the brain: signals that correlate with decision accuracy (optimal confidence) and signals that correlate with subjects’ behavioral reports of confidence (subjective confidence). We recorded neuronal activity from a sensorimotor decision area, the superior colliculus (SC) of monkeys, while they performed two different tasks. In our first task, decision accuracy and confidence co-varied, as in previous studies. In our second task, we implemented a novel motion discrimination task with stimuli that were matched for decision accuracy but produced different levels of confidence as reflected by behavioral reports. We used a multivariate decoder to predict monkeys’ choices from neuronal population activity. As in previous studies on perceptual decision-making mechanisms, we found that neuronal decoding performance increased as decision accuracy increased. However, when decision accuracy was matched, performance of the decoder was similar between high and low subjective confidence conditions. These results show that the SC likely signals optimal decision confidence similar to previously reported cortical mechanisms, but is unlikely to play a critical role in subjective confidence. The results also motivate future investigations to determine where in the brain signals related to subjective confidence reside.Significance StatementConfidence is thought to reflect the rational or optimal belief concerning one’s choice accuracy. Here, we introduce a novel version of the dot-motion discrimination task with stimulus conditions that produce similar accuracy but different subjective behavioral reports of confidence. We decoded decision performance of this task from neuronal signals in the superior colliculus (SC), a subcortical region involved in decision-making. We found that SC activity signaled a perceptual decision for visual stimuli, with the strength of this activity reflecting decision accuracy, but not the subjective level of confidence as reflected by behavioral reports. These results demonstrate an important role for the SC in perceptual decision-making and challenge current ideas about how to measure subjective confidence in monkeys and humans.
Hypoosmolar dose-dependent swelling occurs in both pyramidal neurons and astrocytes in acute hippocampal slices
Authors: Murphy Thomas R. , Davila David , Cuvelier Nicholas , Young Leslie R. , Lauderdale Kelli , Binder Devin K. , Fiacco Todd A. 
Published: June 2017

AbstractNormal nervous system function is critically dependent on the balance of water and ions in the extracellular space. Pathological reduction in brain interstitial osmolarity results in osmotically-driven flux of water into cells, causing cellular edema which reduces the extracellular space and increases neuronal excitability and risk of seizures. Astrocytes are widely considered to be particularly susceptible to cellular edema due to selective expression of the water channel aquaporin-4 (AQP4). The apparent resistance of pyramidal neurons to osmotic swelling has been attributed to lack of functional water channels. In this study we report rapid volume changes in CA1 pyramidal cells in hypoosmolar ACSF (hACSF) that are equivalent to volume changes in astrocytes across a variety of conditions. Astrocyte and neuronal swelling was significant within 1 minute of exposure to 17 or 40% hACSF, was rapidly reversible upon return to normosmolar ACSF, and repeatable upon re-exposure to hACSF. Neuronal swelling was not an artifact of patch clamp, occurred deep in tissue, was similar at physiological vs. room temperature, and occurred in both juvenile and adult hippocampal slices. Neuronal swelling was neither inhibited by TTX, nor by antagonists of NMDA or AMPA receptors, suggesting that it was not occurring as a result of excitotoxicity. Surprisingly, genetic deletion of AQP4 did not inhibit, but rather augmented, astrocyte swelling in severe hypoosmolar conditions. Taken together, our results indicate that neurons are not osmoresistant as previously reported, and that osmotic swelling is driven by an AQP4-independent mechanism.
Specific Patterns of Bold Variability Associated with the Processing of Pain Stimuli
Authors: Costa Tommaso , Nani Andrea , Manuello Jordi , Vercelli Ugo , Tatu Mona-Karina , Cauda Franco 
Published: June 2017

ABSTRACTIt is well known that the blood oxygen level dependent (BOLD) signal varies according to task performance and region specificity. This ongoing and fluctuating activity reflects the organization of functional brain networks. Peculiar dynamics of BOLD signal are therefore supposed to characterize brain activity in different conditions. Within this framework, we investigated through a multivoxel pattern analysis whether patterns of BOLD variability convey information that may allow an efficient discrimination between task (i.e., painful stimulation) and rest conditions. We therefore identified the most discriminative brain areas between the two conditions, which turned out to be the anterior insula, dorsal anterior cingulate cortex, posterior insula, the thalamus, and the periaqueductal gray. Then, on the basis of information theory, we calculated the entropy of their different time series. Entropy was found to distribute differently between these brain areas. The posterior insula was found to be is the smaller contributor to the entropy rate, whereas the system formed by the thalamus and periaqueductal gray was found to be the major contributor. Overall, the brain system reaches a higher level of entropy during the rest condition, which suggests that cerebral activity is characterized by a larger informational space when the brain is at rest than when it is engaged in a specific task. Thus, this study provides evidence that: i) the pattern of BOLD variance allow a good discrimination between the conditions of rest and pain stimulation; ii) the discriminative pattern resembles closely that of the functional network that has been calledpain matrix; iii) brain areas with high and low variability are characterized by a different sample entropy; iv) the entropy rate of cerebral regions can be an insightful parameter to better understand the complex dynamics of the brain.
Barriers of entrepreneurial intention among Qatari male students
Authors: Kebaili Boumediene , Al-Subyae Saif Saeed , Al-Qahtani Fahed 
Published: June 2017

PurposeThe purpose of this paper is to examine the effects of psychological and institutional factors on the entrepreneurial intention among Qatari male students. Qatar has the world highest incomes per capita. Recently, the government launched many initiatives to stimulate Qatari’s to engage in entrepreneurship activities.Design/methodology/approachData were collected by means of a questionnaire. The target population of this research were Qatari male students in the final year of Bachelor degree in Management. A total of 155 responses were used for the purpose of this study.FindingsThe findings indicate that Qatari male students hold a high entrepreneurial intention. In addition, two institutional barriers and three psychological barriers were found to be associated with the entrepreneurial intention.Research limitations/implicationsIt would be interesting to investigate the barriers to entrepreneurial intention among Qatari female students by expanding the current theoretical framework to include some cultural factors pertaining to Qatari female students.Practical implicationsThis study has implications for statutory bodies involved in promoting entrepreneurship activities. In addition, it offers some suggestions for educational institutions and vocational training centres.Originality/valueThe research confirms the need for more than one theory in explaining the entrepreneurship intention. Another contribution is the context of this study. Qatar’s social, economic and political contexts are totally dissimilar from Eastern or Western set-ups. The study provides some insights on the psychological and institutional barriers among Qatari male students.
Classical Sociology and the First World War: Weber, Durkheim, Simmel and Scheler in the Trenches
Authors: COTESTA VITTORIO 
Published: June 2017

AbstractThe war writings of the founding fathers of modern sociology in France (Durkheim) and Germany (Weber, Simmel, Scheler) on the one hand show the legitimization of the geopolitical situation of each country; on the other, they highlight the image of the relationship between individuals (the combatants) and their country. This article considers some lesser‐known writings by Weber to highlight his will (which was frustrated) to take part in the war and his efforts to sustain his government and German soldiers injured during the fighting through the organization of the Heidelberg Hospital. Together with some of the foremost French intellectuals of his day, Durkheim created an analysis and communication group that produced pamphlets and newspaper articles which are useful in shedding light on the ambiguous stand of the French sociologist over the war. The article then goes on to consider the works by Simmel, in particular, his ‘Die Idee Europa’, an article in which the war was seen as a turning point in history that might have allowed Germany to lead Europe to a greater future. Scheler, for his part, considered the war as a divine punishment for the whole of Europe. As he had it, the God of love would have granted victory to the nation that proved its boundless willingness to sacrifice itself. The author's conclusion is that, with the exception of Simmel in his Soziologie (1908), the fathers of classic sociology did not offer any significant contribution to understanding the war as a social phenomenon.
Revolutionary Fundraising and Global Networks: A Micro‐Economic Approach to the Social Meaning of Money and Mobilization before the Second World War
Authors: WOLFF FRANK 
Published: June 2017

AbstractAlready decades ago Jonathan Frankel found that Russian ‘[r]evolutionary organizations depended to an extraordinary extent on the ebb and flow of fundraising’. This even increased in independent Poland where, for instance, the large school‐network TSISHO constantly required massive inflow of funds raised abroad. Among the many emigrants from Russia, Bundists overseas were especially successful fundraisers. For thousands of them, fundraising became the single most important mode of maintaining ties with a movement in which they had developed their distinct identities and which many of them sought to revitalize on distant shores. To date not a single study has asked for the backgrounds and the effects of this crucial and transnationally interdependent activism. It started with monodirectional transfers and developed into multiple forms of exchange, including ideas, organisational patterns, materials and manpower. Over the decades preceding the Second World War it constantly increased due the Bund's increasing engagement with a socialist and secular global Jewish culture. Finally it propelled the recreation of some of the movement's most successful branches in the New World. Yet, despite the common context, the practices and effects of such initiatives in the United States differed drastically from those in Argentina. Based on extensive source work in local archives, this article explores the extent and relevance of Bundist fundraising in different societies. As a result it will present a comparative perspective on practices of Bundist transnational solidarity and thereby scrutinize our understanding of the presence of eastern Europe as a factor in global history – and the other way around. This global perspective also aims in another direction. For decades historians of the Russian Revolution – as well as of revolutions and social movements in general – have been engaged in debates about who organized the movement, who ran the revolution and which micro‐ or macro level dynamics were decisive. However, we have never seriously asked who paid for the revolution and what consequences the collection of money has in revolutionary movements. The economic history of revolution still needs to be written. This article aims to be first step in this direction.
Protein Concentration of Refractory Ascites in Cancer Patients is Reflected by the Presence and Severity of Peritoneal and Liver Metastasis
Authors: Yamada Yosuke , Yamaguchi Akinori , Harada Makoto , Kurasawa Yukifumi , Hara Yuuta , Yamazaki Daiki , Fujita Satoshi , Sonoda Kosuke , Masuda Tomoe , Yamada Aiko , Ogawa Yohei , Hashimoto Koji , Kamijo Yuji 
Published: June 2017

AbstractAscites total protein concentration (A‐TP) affects the performance of cell‐free and concentrated ascites reinfusion therapy (CART). As the factors determining A‐TP remain unclear, we examined peritoneal and liver metastasis. Among 98 patients who received CART, 68 with cancer, ascites from no other apparent cause, and complete CT and A‐TP data were recruited. Sixty‐six patients (97%) with peritoneal and/or liver metastasis on CT were divided into the peritoneal metastasis group (PM group), peritoneal and liver metastasis group (PM + LM group), and liver metastasis group (LM group). A‐TP was highest in the PM group (3.9 g/dL [3.4–4.4]), lowest in the LM group (1.0 g/dL [0.9–2.0]), and broadly dispersed in the PM + LM group (3.3 g/dL [2.0–3.8]). All differences were statistically significant. The percentage of metastasis volume occupying the liver was negatively and significantly related to A‐TP in the PM + LM group. Taken together, the presence and severity of peritoneal and liver metastasis may influence A‐TP.
The role of regulatory T cells in thymectomy‐induced autoimmune ovarian disease
Authors: Dong Yajun , Li Hongmei , Li Yuyan , Liu Yonggang , Chen Huiling , Xu Pingping , Zhao Tingting , He Wei 
Published: June 2017

ProblemTo evaluate the role of regulatory T (Treg) cells in autoimmune ovarian disease (AOD).Method of studyAOD model was set up by thymectomy of BALB/C mice on day 3 (d3tx). The variation of T lymphocyte subsets, especially the Treg cells were analyzed in the peripheral blood, spleen, para‐aortic, and inguinal lymph nodes in d3tx mice. The effect of Treg cells on AOD was further evaluated by adoptive transfer of Treg cells into d3tx mice (d3tx+Treg).ResultsIn d3tx mice, the ratio of Treg/CD4+ was significantly increased rapidly from 1st to 2nd week, rapidly declined in 3rd week, then decreased slowly until the 9th week. The CD3+/T lymphocytes and the ratio of CD4+/CD3+ were significantly decreased in the para‐aortic and inguinal lymph nodes of d3tx mice, but the ratio of Treg/CD4+ and CD8+/CD3+ were increased simultaneously. In d3tx mice with adoptive transfer of Treg cells (0.5×104~5×105), there was a significant increase in the Treg/CD4+ ratios in the spleen and peripheral blood. AOD score, especially adoptive transferred treg cells from the ovarian lymph nodes was significantly decreased. Oocytes were successfully obtained from d3tx+Treg mice, which could fertilize and develop to embryos normally.ConclusionTreg cells involved in the pathogenesis of AOD. Sufficient numbers of Treg cells can modify AOD in the early phase in d3tx mice.
Effect of active evaluation on the detection of negative dysphotopsia after sequential cataract surgery: discrepancy between incidences of unsolicited and solicited complaints
Authors: Makhotkina Natalia Y. , Nijkamp Marjan D. , Berendschot Tos T.J.M. , van den Borne Bart , Nuijts Rudy M.M.A. 
Published: June 2017

AbstractPurposeTo evaluate the incidence of negative dysphotopsia after sequential cataract surgery.MethodsRetrospective cohort study. The incidence of negative dysphotopsia was assessed by retrospective reviewing of medical records and interviews with patients between 2 and 4 months after sequential cataract surgery. Inclusion criteria were uncomplicated surgery, postoperative corrected distance visual acuity (CDVA) ≥20/25 Snellen and the absence of ocular comorbidity. The majority of intra‐ocular lens (IOL) implants were one‐piece AcrySof SN60WF (161 eyes). Other IOLs (29 eyes) were toric (SN6AT3‐6), spherical (SN60AT), three‐piece (MN60MA) and multifocal (ReSTOR SN6AD1, PanOptix TFNT00 and Finevision Micro F trifocal).ResultsThe study population was comprised of 95 patients with a mean age of 72 ± 10 years. Unsolicited complaints of negative dysphotopsia were reported by eight patients (8%), and two of them had a resolution of symptoms within 1 month of follow‐up. Eighteen patients (19%) reported negative dysphotopsia at the time of the interview. Two patients reported bothersome negative dysphotopsia, and one of them was successfully treated with implantation of a supplementary IOL in the ciliary sulcus. Patients with negative dysphotopsia were younger than patients without dysphotopsia (p = 0.045) and had shorter axial eye length (p = 0.04), a tendency for higher IOL power (p = 0.09) and a higher CDVA (p = 0.001).ConclusionThe incidence of unsolicited negative dysphotopsia after sequential cataract surgery appears to be a substantial underestimation of complaints identified in active interviewing. Although symptoms are not bothersome in the majority of cases, some patients with undiagnosed severe negative dysphotopsia may benefit from reassurance or secondary treatment.
The influence of familiar characters and other appealing images on young children's preference for low‐quality objects
Authors: Danovitch Judith H. , Mills Candice M. 
Published: June 2017

This study examines the factors underlying young children's preference for products bearing a familiar character's image. Three‐year‐olds (N = 92) chose between low‐quality objects with images on or near the objects and high‐quality objects without images. Children showed stronger preferences for damaged objects bearing images of a preferred familiar character than for objects bearing images of a preferred colour star, and they showed weak preferences for damaged objects with the character near, but not on, the object. The results suggest that children's preference for low‐quality products bearing character images is driven by prior exposure to characters, and not only by the act of identifying a favourite.
Statement of contribution

What is already known on this subject?

Children are exposed to characters in the media and on products such as clothing and school supplies.

Products featuring familiar characters appeal to preschool children, even if they are of low quality.

What does this study add?

Three‐year‐olds prefer damaged objects with an image of a favourite character over plain undamaged objects.

Children's preference is not solely a function of having identified a favourite image or of attentional cues.