bluuebunny/crossref_metadata_2025 huggingface dataset:
Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures
Authors: Al‐Maawali Almundher , Barry Brenda J. , Rajab Anna , El‐Quessny Malak , Seman Ann , Coury Stephanie Newton , Barkovich A. James , Yang Edward , Walsh Christopher A. , Mochida Ganeshwaran H. , Stoler Joan M.
Published: October 2015

Exome sequencing identified homozygous loss‐of‐function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early‐onset epilepsy, severe vision impairment, and pulmonary symptoms including bronchiectasis and recurrent respiratory infections. A heterozygous DIAPH1 mutation was originally reported in one family with autosomal dominant deafness. Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. The role of DIAPH1 was supported using parametric linkage analysis, RNA and protein studies in their patients' cell lines and further studies in human neural progenitors cells and a diap1 knockout mouse. In this report, the proband was initially brought to medical attention for profound metopic synostosis. Additional concerns arose when his head circumference did not increase after surgical release at 5 months of age and he was diagnosed with microcephaly and epilepsy at 6 months of age. Clinical exome analysis identified a homozygous DIAPH1 mutation. Another homozygous DIAPH1 mutation was identified in the research exome analysis of a second family with three siblings presenting with a similar phenotype. Importantly, no hearing impairment is reported in the homozygous affected individuals or in the heterozygous carrier parents in any of the families demonstrating the autosomal recessive microcephaly phenotype. These additional families provide further evidence of the likely causal relationship between DIAPH1 mutations and a neurodevelopmental disorder. © 2015 Wiley Periodicals, Inc.
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors
Authors: Izumi Kosuke , Hayashi Daisuke , Grochowski Christopher M. , Kubota Noriko , Nishi Eriko , Arakawa Michiko , Hiroma Takehiko , Hatata Tomoko , Ogiso Yoshifumi , Nakamura Tomohiko , Falsey Alexandra M. , Hidaka Eiko , Spinner Nancy B.
Published: October 2015

Alagille syndrome is a multisystem developmental disorder characterized by bile duct paucity, congenital heart disease, vertebral anomalies, posterior embryotoxon, and characteristic facial features. Alagille syndrome is typically the result of germline mutations in JAG1 or NOTCH2 and is one of several human diseases caused by Notch signaling abnormalities. A wide phenotypic spectrum has been well documented in Alagille syndrome. Therefore, monozygotic twins with Alagille syndrome provide a unique opportunity to evaluate potential phenotypic modifiers such as environmental factors or stochastic effects of gene expression. In this report, we describe an Alagille syndrome monozygotic twin pair with discordant placental and clinical findings. We propose that environmental factors such as prenatal hypoxia may have played a role in determining the phenotypic severity. © 2015 Wiley Periodicals, Inc.
The association between childhood autistic traits and adolescent psychotic experiences is explained by general neuropsychiatric problems
Authors: Cederlöf Martin , Pettersson Erik , Sariaslan Amir , Larsson Henrik , Östberg Per , Kelleher Ian , Långström Niklas , Gumpert Clara Hellner , Lundström Sebastian , Lichtenstein Paul
Published: October 2015

Studies suggest associations between childhood autistic traits and adolescent psychotic experiences. However, recent research suggests that a general neuropsychiatric problems factor predicts adverse outcomes better than specific diagnostic entities. To examine if the alleged association between autistic traits and psychotic experiences could rather be explained by a general neuropsychiatric problems factor comprising symptoms of ADHD, tic disorder, developmental coordination disorder, and learning disorder, we conducted a prospective cohort study based on the Child and Adolescent Twin Study in Sweden. In addition, we examined the genetic and environmental influences on the associations. A total of 9,282 twins with data on childhood autistic traits and other neuropsychiatric problems, and follow‐up data on psychotic experiences at ages 15 and/or 18 years were included. First, psychotic experiences were regressed on autistic traits and second, the general neuropsychiatric problems factor was added to the model. Auditory hallucinations were analyzed separately from the other psychotic experiences. Finally, twin analyses were employed to disentangle genetic from environmental influences in the observed associations. Replicating prior research, significant associations were found between autistic traits in childhood and auditory hallucinations at ages 15 and 18. However, after controlling for the general neuropsychiatric problems factor, the associations between autistic traits and auditory hallucinations disappeared, whereas the association between the general neuropsychiatric problems factor and auditory hallucinations persisted after controlling for autistic traits. Twin analyses revealed that the association between the general neuropsychiatric problems factor and auditory hallucinations was driven by shared genetic influences. © 2015 Wiley Periodicals, Inc.
Currently recognized genes for schizophrenia: High‐resolution chromosome ideogram representation
Authors: Butler Merlin G. , McGuire Austen B. , Masoud Humaira , Manzardo Ann M.
Published: October 2015

A large body of genetic data from schizophrenia‐related research has identified an assortment of genes and disturbed pathways supporting involvement of complex genetic components for schizophrenia spectrum and other psychotic disorders. Advances in genetic technology and expanding studies with searchable genomic databases have led to multiple published reports, allowing us to compile a master list of known, clinically relevant, or susceptibility genes contributing to schizophrenia. We searched key words related to schizophrenia and genetics from peer‐reviewed medical literature sources, authoritative public access psychiatric websites and genomic databases dedicated to gene discovery and characterization of schizophrenia. Our list of 560 genes were arranged in alphabetical order in tabular form with gene symbols placed on high‐resolution human chromosome ideograms. Genome wide pathway analysis using GeneAnalytics was carried out on the resulting list of genes to assess the underlying genetic architecture for schizophrenia. Recognized genes of clinical relevance, susceptibility or causation impact a broad range of biological pathways and mechanisms including ion channels (e.g., CACNA1B, CACNA1C, CACNA1H), metabolism (e.g., CYP1A2, CYP2C19, CYP2D6), multiple targets of neurotransmitter pathways impacting dopamine, GABA, glutamate, and serotonin function, brain development (e.g., NRG1, RELN), signaling peptides (e.g., PIK3CA, PIK4CA) and immune function (e.g., HLA‐DRB1, HLA‐DQA1) and interleukins (e.g., IL1A, IL10, IL6). This summary will enable clinical and laboratory geneticists, genetic counselors, and other clinicians to access convenient pictorial images of the distribution and location of contributing genes to inform diagnosis and gene‐based treatment as well as provide risk estimates for genetic counseling of families with affected relatives. © 2015 Wiley Periodicals, Inc.
Genetic drift: A case of abuse
Authors: Marion Robert
Published: October 2015

In this essay, an infant with multiple fractures is removed from the custody of her parents because of suspected child abuse. Subsequently studies reveal that the child has osteogenesis imperfecta, type III. Though the child is eventually returned to the mother's custody, her entire first year has been spent in foster care. The essay illustrates the toll taken on families when a diagnosis of OI is missed or delayed. © 2015 Wiley Periodicals, Inc.
Photoelektronenspektroskopie an der Graphen‐Flüssigelektrolyt‐Grenzfläche zur Bestimmung der elektronischen Struktur eines elektrochemisch abgeschiedenen Cobalt/Graphen‐Elektrokatalysators
Authors: Velasco‐Velez Juan J. , Pfeifer Verena , Hävecker Michael , Weatherup Robert S. , Arrigo Rosa , Chuang Cheng‐Hao , Stotz Eugen , Weinberg Gisela , Salmeron Miquel , Schlögl Robert , Knop‐Gericke Axel
Published: October 2015

Elektrochemisch gewachsenes Cobalt auf Graphen weist außergewöhnliche Katalysatoreigenschaften für die Sauerstoffentwicklungsreaktion (OER) auf und bietet die Möglichkeit, die Morphologie und die chemischen Eigenschaften während der Abscheidung zu kontrollieren. Es gibt allerdings noch kein ausreichendes Verständnis der atomaren Struktur dieses Hybridmaterials. Um die elektronische Struktur von Co/Graphen aufzuklären, haben wir eine Durchflusszelle entwickelt, die durch eine Graphenmembran abgeschlossen wird und elektronische und chemische Informationen über die aktiven Oberflächen unter atmosphärischem Druck und in der Gegenwart von flüssigen Elektrolyten unter Verwendung von Röntgenphotoelektronenspektroskopie (XPS) liefert. Wir konnten zeigen, dass Cobalt an Graphen über Carbonyl‐ähnliche Spezies bindet, d. h. Co(CO)x , und so die Reduktion von Co3+ zu Co2+ fördert, das als aktives Zentrum des Katalysators vermutet wird.
Photoelectron Spectroscopy at the Graphene–Liquid Interface Reveals the Electronic Structure of an Electrodeposited Cobalt/Graphene Electrocatalyst
Authors: Velasco‐Velez Juan J. , Pfeifer Verena , Hävecker Michael , Weatherup Robert S. , Arrigo Rosa , Chuang Cheng‐Hao , Stotz Eugen , Weinberg Gisela , Salmeron Miquel , Schlögl Robert , Knop‐Gericke Axel
Published: October 2015

Electrochemically grown cobalt on graphene exhibits exceptional performance as a catalyst for the oxygen evolution reaction (OER) and provides the possibility of controlling the morphology and the chemical properties during deposition. However, the detailed atomic structure of this hybrid material is not well understood. To elucidate the Co/graphene electronic structure, we have developed a flow cell closed by a graphene membrane that provides electronic and chemical information on the active surfaces under atmospheric pressure and in the presence of liquids by means of X‐ray photoelectron spectroscopy (XPS). We found that cobalt is anchored on graphene via carbonyl‐like species, namely Co(CO)x, promoting the reduction of Co3+ to Co2+, which is believed to be the active site of the catalyst.
Discounting by Probabilistic Waiting
Authors: Vanderveldt Ariana , Green Leonard , Rachlin Howard
Published: October 2015

In everyday life, many probabilistic situations may be characterized as probabilistic waiting. A gambler, for example, bets repeatedly at the racetrack, the casino, or the card table. The gambler may not win on the first try, but if a gamble is repeated enough times, a win is almost certain to occur eventually. If repeated gambles are structured as strings of losses ending in a win (probabilistic waiting) and the amount won is discounted by the delay caused by the series of losses, then strings with many losses will be discounted more than those with fewer losses, thereby causing subjective value of the series of gambles as a whole to increase. The current study used the opposite effect that amount has on the degree of delay and probability discounting as a marker to determine whether people evaluate situations involving probabilistic waiting as they evaluate situations involving delayed outcomes or as situations involving probabilistic outcomes. We find that the more likely a probabilistic waiting situation is to end in reward (e.g., a gamble is repeated indefinitely until reward is obtained), the more that situation conforms to delay discounting; the less likely a probabilistic waiting situation is to end in reward (e.g., a fixed, small number of gambles), the more that situation conforms to probability discounting. We argue that the former situation is applicable to pathological gambling, and that people with steep delay discount functions would therefore be more likely to have gambling problems. Copyright © 2015 John Wiley & Sons, Ltd.
Rapidly acquired multisensory association in the olfactory cortex
Authors: Karunanayaka Prasanna R. , Wilson Donald A. , Vasavada Megha , Wang Jianli , Martinez Brittany , Tobia Michael J. , Kong Lan , Eslinger Paul , Yang Qing X.
Published: October 2015

Background

The formation of an odor percept in humans is strongly associated with visual information. However, much less is known about the roles of learning and memory in shaping the multisensory nature of odor representations in the brain.

Method

The dynamics of odor and visual association in olfaction was investigated using three functional magnetic resonance imaging (fMRI) paradigms. In two paradigms, a visual cue was paired with an odor. In the third, the same visual cue was never paired with an odor. In this experimental design, if the visual cue was not influenced by odor–visual pairing, then the blood‐oxygen‐level‐dependent (BOLD) signal elicited by subsequent visual cues should be similar across all three paradigms. Additionally, intensity, a major dimension of odor perception, was used as a modulator of associative learning which was characterized in terms of the spatiotemporal behavior of the BOLD signal in olfactory structures.

Results

A single odor–visual pairing cue could subsequently induce primary olfactory cortex activity when only the visual cue was presented. This activity was intensity dependent and was also detected in secondary olfactory structures and hippocampus.

Conclusion

This study provides evidence for a rapid learning response in the olfactory system by a visual cue following odor and visual cue pairing. The novel data and paradigms suggest new avenues to explore the dynamics of odor learning and multisensory representations that contribute to the construction of a unified odor percept in the human brain.
Magnetic resonance brain imaging in patients with visual vertigo
Authors: Pollak Lea , Osherov Michael , Berkovitz Nadav , Beckerman Inessa , Stryjer Rafael , Tal Sigal
Published: October 2015

Introduction

Patients with visual vertigo (VV) report dizziness provoked by moving visual surroundings. It has been suggested that these subjects develop a compensation strategy for a vestibulo‐proprioceptive deficit and rely excessively on visual input. We have postulated that patients with VV might have brain abnormalities that interfere with appropriate processing of visual stimulation and performed a brain MRI study to verify this hypothesis.

Materials and Methods

Patients with VV of more than 3 months duration were included. They were asked to complete the Situational Characteristic Questionnaire (SCQ) that scores for the symptoms of VV. Dizzy patients without VV served as controls. A brain MRI was performed with a Siemens 1.5 Tesla scanner in patients and controls.

Results

Twenty‐four patients with VV were included. Their mean SCQ score was 1.45 ± 0.9 (normal 0.16 ± 0.28). In 50% of patients, abnormalities in MRI imaging were found. Thirty‐three percent of 27 controls demonstrated an abnormal brain MRI. The two groups were similar in respect to the prevalence of a localized hemispheric or posterior fossa lesion (P = 0.13), but VV patients had more unspecific white matter brain changes than controls (P = 0.009). Patients and controls did not differ in age and gender distribution (P = 0.9) or the history of a neurotological event preceding their symptoms (P = 0.3).

Conclusions

Our study suggests that multiple white matter lesions might contribute to occurrence of the phenomenon of VV. Future prospective large‐scale studies by specific MR techniques are indicated to validate our preliminary findings and elucidate the pathological mechanism of VV.
Generation of Oxygen Vacancy and OH Radicals: A Comparative Study of Bi2WO6 and Bi2WO6−x Nanoplates
Authors: Liu Yang , Wei Bo , Xu Lingling , Gao Hong , Zhang Mingyi
Published: October 2015

A comparative study of visible‐light‐responsive Bi2WO6 and oxygen‐deficient Bi2WO6−x nanoplates was conducted. The formation of oxygen vacancy resulted in the band gap narrowing of oxygen‐deficient Bi2WO6−x, through an elevation of both of the conduction and valence band positions. FTIR spectra revealed that much more surface hydroxyl groups have been detected after the etching process. The scavengers tests confirmed the generation of ⋅OH radicals during photochemical reaction for Bi2WO6−x, whereas no .OH radicals can be detected for pure Bi2WO6. The photocatalytic activities of optimized Bi2WO6−x on the decomposition of Rhodamine B (RhB) was three times as high as that of pure Bi2WO6. The improvement of photocatalytic activity on degradation of RhB and phenol can be ascribed to the synergistic effect of oxygen deficiency‐induced band shifts, together with the large quantities of surface hydroxyl groups providing active sites for the generation of OH radicals (.OH).
Modeling of a Methanol Synthesis Reactor for Storage of Renewable Energy and Conversion of CO2 – Comparison of Two Kinetic Models
Authors: Meyer Johannes J. , Tan Pepe , Apfelbacher Andreas , Daschner Robert , Hornung Andreas
Published: October 2015

The storage of renewable energy over a long time period, via methanol synthesis, will become very important to reach a greenhouse gas‐free energy supply. A steady‐state methanol synthesis flowsheet, containing a 2D pseudo‐homogeneous reactor, flash, and recycle, is modeled in MATLAB. With the kinetic models of Graaf and Bussche & Froment, two frequently used kinetic models for conventional methanol synthesis are compared and evaluated for applicability regarding methanol synthesis from CO2/H2. The results are presented for different cases of synthesis gas compositions. Both kinetic models produce similar results when the system is limited by thermodynamic equilibrium. However, differences in reaction rates are observable from the reactor axial molar component profiles of the reaction products.
Natural Calcium‐Based Sorbents Doped with Sea Salt for Cyclic CO2 Capture
Authors: Xu Yongqing , Luo Cong , Zheng Ying , Ding Haoran , Zhou Dong , Zhang Liqi
Published: October 2015

The calcium‐looping process for post‐combustion carbon dioxide capture, an economically and technically feasible method suitable for large‐scale use, has recently gained much attention. However, the capture capacity of calcium‐based sorbents rapidly decreases after only a few cycles. Herein, calcium‐based sorbents with enhanced cyclic CO2‐capture capacity have been derived from cheap, natural raw materials by using a simple impregnation method. Limestone and shells were used as the calcium‐based raw materials, with sea salt as dopant. Modified limestone had the highest CO2‐capture capacity after multiple carbonation‐calcination cycles. Sea‐salt‐doped sorbent showed a relatively stable porous surface during cycles, which resulted in a higher CO2‐capture capacity.
Robust Electroreduction of CO2 at a Poly(4‐vinylpyridine)–Copper Electrode
Authors: Ponnurangam Sathish , Yun Chang Min , Chernyshova Irina V.
Published: October 2015

The development of efficient and robust catalysts based on earth‐abundant and nontoxic materials is critical for the viability of the electrocatalytic conversion of CO2 into useful chemicals. Herein, we report a new class of electrocatalysts with incorporated mechanisms of their stabilization. A Cu electrode coated with a poly(4‐vinyl pyridine) film synthesizes formate at a faradaic efficiency of 40 % at an overpotential of −0.67 V, and its catalytic activity does not degrade after 30 h of operation. We attribute the outstanding catalytic properties of the new hybrid material to the formation of Cu–polymer complexes, as well as to new intrinsic mechanisms of the electrode stabilization offered by the N‐heteroaromatic polymer. This is the first report of CO2 electroreduction with copper–N‐heteroaromatic ligand complexes. More generally, our study offers a new simple strategy to design and prepare robust CO2 reduction electrocatalysts based on earth‐abundant metals.
Red/NIR G‐Quadruplex Sensing, Harvesting Blue Light by a Coumarin–Naphthalene Diimide Dyad
Authors: Zuffo Michela , Doria Filippo , Spalluto Vincenzo , Ladame Sylvain , Freccero Mauro
Published: October 2015

A conceptually new light‐up nucleic acid fluorescent probe resulting from the conjugation of a coumarin to a naphthalene diimide exhibits a single wavelength emission at 498 nm when free in solution and an additional red/NIR emission when bound to G‐quadruplex DNA. The light‐up response centred at 666 nm is highly specific for quadruplex DNA when compared to duplex DNA or to RNA quadruplexes.
Enhanced Recyclability, Stability, and Selectivity of CdS/C@Fe3O4 Nanoreactors for Orientation Photodegradation of Ciprofloxacin
Authors: Lu Ziyang , Zhao Xiaoxu , Zhu Zhi , Yan Yongsheng , Shi Weidong , Dong Hongjun , Ma Zhongfei , Gao Nailing , Wang Youshan , Huang Hai
Published: October 2015

A unique CdS/C@Fe3O4 nanoreactor was fabricated by the surface‐imprinting technique, which effectively enhances the recyclability, stability, and selectivity for orientation recognition and photodegradation of ciprofloxacin in the binary mixed solution under visible‐light irradiation. This work not only puts forward a novel design idea that develops the potential application value of CdS, but also provides a new approach for inhibiting its secondary pollution.
Solar‐Light‐Driven Pure Water Splitting with Ultrathin BiOCl Nanosheets
Authors: Zhang Ling , Han Zhongkang , Wang Wenzhong , Li Xiaoman , Su Yang , Jiang Dong , Lei Xiaoling , Sun Songmei
Published: October 2015

A suitable photocatalyst for overall water splitting has been produced by overcoming the disadvantage of the band structure in bulk BiOCl by reducing the thickness to the quantum scale. The ultrathin BiOCl nanosheets with surface/subsurface defects realized the solar‐driven pure water splitting in the absence of any co‐catalysts or sacrificial agent. These surface defects cannot only shift both the valence band and conduction band upwards for band‐gap narrowing but also promote charge‐carrier separation. The amount of defects in the outer layer surface of BiOCl results in an enhancement of carrier density and faster charge transport. First‐principles calculations provide clear evidence that the formation of surface oxygen vacancies is easier for the ultrathin BiOCl nanosheets than for its thicker counterpart. These defects can serve as active sites to effectively adsorb and dissociate H2O molecules, resulting in a significantly improved water‐splitting performance.
Enzymatic Dissolution of Biocomposite Solids Consisting of Phosphopeptides to Form Supramolecular Hydrogels
Authors: Shi Junfeng , Yuan Dan , Haburcak Richard , Zhang Qiang , Zhao Chao , Zhang Xixiang , Xu Bing
Published: October 2015

Enzyme‐catalyzed dephosphorylation is essential for biomineralization and bone metabolism. Here we report the exploration of using enzymatic reaction to transform biocomposites of phosphopeptides and calcium (or strontium) ions to supramolecular hydrogels as a mimic of enzymatic dissolution of biominerals. 31P NMR shows that strong affinity between the phosphopeptides and alkaline metal ions (e.g., Ca2+ or Sr2+) induces the formation of biocomposites as precipitates. Electron microscopy reveals that the enzymatic reaction regulates the morphological transition from particles to nanofibers. Rheology confirms the formation of a rigid hydrogel. As the first example of enzyme‐instructed dissolution of a solid to form supramolecular nanofibers/hydrogels, this work provides an approach to generate soft materials with desired properties, expands the application of supramolecular hydrogelators, and offers insights to control the demineralization of calcified soft tissues.
Determination of the Interception Volume of Storm Water Based on the Contaminants Transport in Storm Sewers
Authors: Liu Cuiyun , Che Wu , Tan Ben
Published: October 2015

We constructed a mathematical model to investigate the transport characteristics of storm water volume and contaminant amounts in storm sewers. The key factors controlling the optimal interception volume of storm water, such as water catchment area, recurrence interval, initial contaminant concentration of runoff, and runoff coefficient were discussed. The quantitative relationship between the interception volume of storm water and interception rate of contaminants was analyzed, and the optimization of storm water interception in storm sewers for a specific storm was discussed. The mathematical model revealed that if storm water was intercepted for a period starting from the initiation of the storm and lasting for a part of the time the storm water resides in the sewer, the interception rate of contaminants and the interception volume of storm water both increased with time. The interception rate of contaminants grew rapidly with interception time at the beginning of the storm. After a certain point (the point of inflection), this rate grew more slowly, eventually tending towards 100%. This point of inflection varied according to differences in rainfall conditions. Finally, we suggest optimization methods to obtain the most efficient interception volumes for a given set of rainfall conditions.
Methods of graph network reconstruction in personalized medicine
Authors: Danilov A. , Ivanov Yu. , Pryamonosov R. , Vassilevski Yu.
Published: October 2015

The paper addresses methods for generation of individualized computational domains on the basis of medical imaging dataset. The computational domains will be used in one‐dimensional (1D) and three‐dimensional (3D)–1D coupled hemodynamic models. A 1D hemodynamic model employs a 1D network of a patient‐specific vascular network with large number of vessels. The 1D network is the graph with nodes in the 3D space which bears additional geometric data such as length and radius of vessels. A 3D hemodynamic model requires a detailed 3D reconstruction of local parts of the vascular network. We propose algorithms which extend the automated segmentation of vascular and tubular structures, generation of centerlines, 1D network reconstruction, correction, and local adaptation. We consider two modes of centerline representation: (i) skeletal segments or sets of connected voxels and (ii) curved paths with corresponding radii. Individualized reconstruction of 1D networks depends on the mode of centerline representation. Efficiency of the proposed algorithms is demonstrated on several examples of 1D network reconstruction. The networks can be used in modeling of blood flows as well as other physiological processes in tubular structures. Copyright © 2015 John Wiley & Sons, Ltd.
Anion Binding Inside a Bambus[6]uril Macrocycle in Chloroform
Authors: Havel Vaclav , Sindelar Vladimir
Published: October 2015

Invited for this month's cover is the group of Prof. Vladimir Sindelar from Masaryk University, Czech Republic. The cover picture shows the bambusuril macrocycle which binds various inorganic anions in the center of its cavity with high affinity and selectivity in chloroform. Read the full text of the article at 10.1002/cplu.201500345.
Population genetic structure ofBellamya aeruginosa(Mollusca: Gastropoda: Viviparidae) in China: weak divergence across large geographic distances
Authors: Gu Qian H. , Husemann Martin , Ding Baoqing , Luo Zhi , Xiong Bang X.
Published: October 2015

Bellamya aeruginosais a widely distributed Chinese freshwater snail that is heavily harvested, and its natural habitats are under severe threat due to fragmentation and loss. We were interested whether the large geographic distances between populations and habitat fragmentation have led to population differentiation and reduced genetic diversity in the species. To estimate the genetic diversity and population structure ofB. aeruginosa, 277 individuals from 12 populations throughout its distribution range across China were sampled: two populations were sampled from the Yellow River system, eight populations from the Yangtze River system, and two populations from isolated plateau lakes. We used seven microsatellite loci and mitochondrial cytochrome oxidase I sequences to estimate population genetic parameters and test for demographic fluctuations. Our results showed that (1) the genetic diversity ofB. aeruginosawas high for both markers in most of the studied populations and effective population sizes appear to be large, (2) only very low and mostly nonsignificant levels of genetic differentiation existed among the 12 populations, gene flow was generally high, and (3) relatively weak geographic structure was detected despite large geographic distances between populations. Further, no isolation by linear or stream distance was found among populations within the Yangtze River system and no signs of population bottlenecks were detected. Gene flow occurred even between far distant populations, possibly as a result of passive dispersal during flooding events, zoochoric dispersal, and/or anthropogenic translocations explaining the lack of stronger differentiation across large geographic distances. The high genetic diversity ofB. aeruginosaand the weak population differentiation are likely the results of strong gene flow facilitated by passive dispersal and large population sizes suggesting that the species currently is not of conservation concern.
Inhibition and deficiency of the immunoproteasome subunit LMP7 attenuates LCMV‐induced meningitis
Authors: Mundt Sarah , Engelhardt Britta , Kirk Christopher J. , Groettrup Marcus , Basler Michael
Published: October 2015

In addition to antigen processing, immunoproteasomes were recently shown to exert functions influencing cytokine production by monocytes and T cells, T‐helper cell differentiation, and T‐cell survival. Moreover, selective inhibition of the immunoproteasome subunit LMP7 ameliorated symptoms of autoimmune diseases including CD4+ T‐cell mediated EAE. In this study, we show that LMP7 also plays a crucial role in the pathogenesis of lymphocytic choriomeningitis virus (LCMV)‐induced meningitis mediated by CTLs. Mice lacking functional LMP7 display delayed and reduced clinical signs of disease accompanied by a strongly decreased inflammatory infiltration into the brain. Interestingly, we found that selective inhibition and genetic deficiency of LMP7 affect the pathogenesis of LCMV‐induced meningitis in a distinct manner. Our findings support the important role of LMP7 in inflammatory disorders and suggest immunoproteasome inhibition as a novel strategy against inflammation‐induced neuropathology in the CNS.
A Multi‐electrochemical Competitive Immunosensor for Sensitive Cocaine Determination in Biological Samples
Authors: Vidal Juan C. , Bertolín Juan R. , Bonel Laura , Asturias Laura , Arcos‐Martínez M. Julia , Castillo Juan R.
Published: October 2015

A multi‐electrochemical competitive immunosensor for the rapid determination of unmetabolized cocaine (COC) in urine, saliva and human serum matrices is reported. Anti‐cocaine polyclonal antibodies were immobilized in an oriented way onto protein‐G functionalized magnetic beads. The immunosensor is based on an array of eight carbon‐based screen‐printed electrodes for simultaneous electrochemical determinations. The treatments of the biological samples were simplified and optimized for avoiding matrix interferences. The immunosensor was sensitive (EC50≈2.92–3.88 ng mL−1 COC), required a very small volume of sample (200 µL), was reproducible (%RSD was lesser than about 18 %), and accurate (recovery percentages ranged 88–117 %).
Novel cationic polyelectrolyte coatings for capillary electrophoresis
Authors: Duša Filip , Witos Joanna , Karjalainen Erno , Viitala Tapani , Tenhu Heikki , Wiedmer Susanne K.
Published: October 2015

The use of bare fused silica capillary in CE can sometimes be inconvenient due to undesirable effects including adsorption of sample or instability of the EOF. This can often be avoided by coating the inner surface of the capillary. In this work, we present and characterize two novel polyelectrolyte coatings (PECs) poly(2‐(methacryloyloxy)ethyl trimethylammonium iodide) (PMOTAI) and poly(3‐methyl‐1‐(4‐vinylbenzyl)‐imidazolium chloride) (PIL‐1) for CE. The coated capillaries were studied using a series of aqueous buffers of varying pH, ionic strength, and composition. Our results show that the investigated polyelectrolytes are usable as semi‐permanent (physically adsorbed) coatings with at least five runs stability before a short coating regeneration is necessary. Both PECs showed a considerably decreased stability at pH 11.0. The EOF was higher using Good's buffers than with sodium phosphate buffer at the same pH and ionic strength. The thickness of the PEC layers studied by quartz crystal microbalance was 0.83 and 0.52 nm for PMOTAI and PIL‐1, respectively. The hydrophobicity of the PEC layers was determined by analysis of a homologous series of alkyl benzoates and expressed as the distribution constants. Our result demonstrates that both PECs had comparable hydrophobicity, which enabled separation of compounds with log Po/w > 2. The ability to separate cationic drugs was shown with β‐blockers, compounds often misused in doping. Both coatings were also able to separate hydrolysis products of the ionic liquid 1,5‐diazabicyclo[4.3.0]non‐5‐ene acetate at highly acidic conditions, where bare fused silica capillaries failed to accomplish the separation.
Bioconjugation of peptides using advanced nanomaterials to examine their interactions in 3D printed flow‐through device
Authors: Michalek Petr , Richtera Lukas , Krejcova Ludmila , Nejdl Lukas , Kensova Renata , Zitka Jan , Kopel Pavel , Heger Zbynek , Adam Vojtech , Kizek Rene
Published: October 2015

Peptide–peptide interactions are crucial in the living cell as they lead to the formation of the numerous types of complexes. In this study, synthetic peptides containing 11 of cysteines (α‐domain of metallothionein (MT)) and sialic acid binding region (130‐loop of hemagglutinin (HA)) were employed. The aim of the experiment was studying the interactions between MT and HA‐derived peptides. For this purpose, fragments were tagged with cysteines at C‐terminal part to serve as ligand sites for PbS and CuS quantum dots (QDs), and therefore these conjugates can be traced and quantified during wide spectrum of methods. As a platform for interaction, γ‐Fe2O3 paramagnetic particles modified with tetraethyl orthosilicate and (3‐aminopropyl)triethoxysilane (hydrodynamic diameter 30–40 nm) were utilized and MT/HA interactions were examined using multi‐instrumental approach including electrochemistry, electrophoretic methods, and MALDI‐TOF/TOF mass spectrometry. It was found that peptides enter mutual creation of complexes, which are based on some of nonbonded interactions. The higher willingness to interact was observed in MT‐derived peptides toward immobilized HA. Finally, we designed and manufactured flow‐through electrochemical 3D printed device (reservoir volume 150 μL) and utilized it for automated analysis of the HA/MT metal labels. Under the optimal conditions, (deposition time and flow rate 80 s and 1.6 mL/min for CuS and 120 s and 1.6 mL/min PbS, respectively), the results of peptide‐conjugated QDs were comparable with atomic absorption spectrometry.
Developments in coupled solid‐phase extraction–capillary electrophoresis 2013–2015
Authors: Ramautar Rawi , Somsen Govert W. , de Jong Gerhardus J.
Published: October 2015

An overview of the design and application of coupled solid‐phase extraction‐capillary electrophoresis (SPE‐CE) systems reported in the literature between July 2013 and June 2015 is provided in this paper. The present article is a continuation of our previous review papers on this topic which covered the time period 2000–2013 (Electrophoresis 2008, 29, 108–128; Electrophoresis 2010, 31, 44–54; Electrophoresis 2012, 33, 243–250; Electrophoresis 2014, 35, 128–137). The use of in‐line and on‐line SPE‐CE approaches is treated and outlined in this review. Recent advancements, such as, for example, the use of aptamers as affinity material for in‐line SPE‐CE, the use of a bead string design for in‐line fritless SPE‐CE, and new interfacing techniques for the on‐line coupling of SPE to CE, are outlined. Selected examples demonstrate the applicability of the coupled SPE‐CE systems for biomedical, pharmaceutical, environmental, and food studies. A complete overview of the recent SPE‐CE studies is given in table format, providing information on sample type, SPE sorbent, coupling mode, detection mode, and LOD. Finally, some general conclusions and perspectives are provided.
Ex vivo expansion of hematopoietic stem cells in a proliferation chamber with external stirred conditioning tank: Sequential optimization of growth factors
Authors: Khosrowshahi Younes Beygi , Khoshfetrat Ali Baradar , Shamsasenjan Karim
Published: October 2015

The insufficient number of hematopoietic stem cells (HSCs) extracted from various cell sources creates the need for the use of growth factors in the culture systems. Numerous types and concentrations of growth factors have been reported in the literature. In this study, we investigated the effect of three important hematopoietic growth factors thrombopoietin (TPO), stem cell factor (SCF), and Fms‐like tyrosine kinase‐3 ligand (Flt‐3) as well as cell‐seeding density on ex vivo expansion of human HSCs using a factorial design. Sequential optimization was then followed by methods of steepest ascent and central composite design. The optimum concentrations of growth factors were 50, 90, and 34 ng/mL for SCF, TPO, and Flt‐3, respectively, at an initial cell density of 2.5 × 105 cells/mL. Effective expansion factor value (EEF) of HSCs increased considerably and revealed almost similar results when the cells were cultured in a 24‐well plate (EEF = 4.54 ± 0.43) and a proliferation chamber with an external stirred conditioning tank (PC‐ESCT; EEF = 5.1 ± 0.35) at seeding density of 2.5 × 105 cells/mL after 7 days. The cells did not show considerable changes in proliferation when they were cultured in medium containing serum or in a commercial serum‐free medium at the optimum concentrations of the growth factors. The present study demonstrated the optimum condition of hematopoietic growth factors as well as the potential of PC‐ESCT for ex vivo expansion of HSCs.
Space‐time NURBS‐enhanced finite elements for free‐surface flows in 2D
Authors: Stavrev A. , Knechtges P. , Elgeti S. , Huerta A.
Published: October 2015

The accuracy of numerical simulations of free‐surface flows depends strongly on the computation of geometric quantities like normal vectors and curvatures. This geometrical information is additional to the actual degrees of freedom and usually requires a much finer discretization of the computational domain than the flow solution itself. Therefore, the utilization of a numerical method, which uses standard functions to discretize the unknown function in combination with an enhanced geometry representation is a natural step to improve the simulation efficiency. An example of such method is the NURBS‐enhanced finite element method (NEFEM), recently proposed by Sevilla et al. The current paper discusses the extension of the spatial NEFEM to space‐time methods and investigates the application of space‐time NURBS‐enhanced elements to free‐surface flows. Derived is also a kinematic rule for the NURBS motion in time, which is able to preserve mass conservation over time. Numerical examples show the ability of the space‐time NEFEM to account for both pressure discontinuities and surface tension effects and compute smooth free‐surface forms. For these examples, the advantages of the NEFEM compared with the classical FEM are shown. Copyright © 2015 John Wiley & Sons, Ltd.
GPR17 expressing NG2‐Glia: Oligodendrocyte progenitors serving as a reserve pool after injury
Authors: Viganò Francesca , Schneider Sarah , Cimino Mauro , Bonfanti Elisabetta , Gelosa Paolo , Sironi Luigi , Abbracchio Maria P. , Dimou Leda
Published: October 2015

In the adult brain NG2‐glia continuously generate mature, myelinating oligodendrocytes. To which extent the differentiation process is common to all NG2‐glia and whether distinct pools are recruited for repair under physiological and pathological conditions still needs clarification. Here, we aimed at investigating the differentiation potential of adult NG2‐glia that specifically express the G‐protein coupled receptor 17 (GPR17), a membrane receptor that regulates the differentiation of these cells at postnatal stages. To this aim, we generated the first BAC transgenic GPR17‐iCreERT2 mouse line for fate mapping studies. In these mice, under physiological conditions, GPR17+ cells —in contrast to GPR17‐ NG2‐glia— did not differentiate within 3 months, a peculiarity that was overcome after cerebral damage induced by acute injury or ischemia. After these insults, GPR17+ NG2‐glia rapidly reacted to the damage and underwent maturation, suggesting that they represent a ‘reserve pool’ of adult progenitors maintained for repair purposes. GLIA 2016;64:287–299
Expression of familial Alzheimer disease presenilin 1 gene attenuates vesicle traffic and reduces peptide secretion in cultured astrocytes devoid of pathologic tissue environment
Authors: Stenovec Matjaž , Trkov Saša , Lasič Eva , Terzieva Slavica , Kreft Marko , Rodríguez Arellano José Julio , Parpura Vladimir , Verkhratsky Alexei , Zorec Robert
Published: October 2015

In the brain, astrocytes provide metabolic and trophic support to neurones. Failure in executing astroglial homeostatic functions may contribute to the initiation and propagation of diseases, including Alzheimer disease (AD), characterized by a progressive loss of neurones over years. Here, we examined whether astrocytes from a mice model of AD isolated in the presymptomatic phase of the disease exhibit alterations in vesicle traffic, vesicular peptide release and purinergic calcium signaling. In cultured astrocytes isolated from a newborn wild‐type (wt) and 3xTg‐AD mouse, secretory vesicles and acidic endosomes/lysosomes were labeled by transfection with plasmid encoding atrial natriuretic peptide tagged with mutant green fluorescent protein (ANP.emd) and by LysoTracker, respectively. The intracellular Ca2+ concentration ([Ca2+]i) was monitored with Fluo‐2 and visualized by confocal microscopy. In comparison with controls, spontaneous mobility of ANP‐ and LysoTracker‐labeled vesicles was diminished in 3xTg‐AD astrocytes; the track length (TL), maximal displacement (MD) and directionality index (DI) were all reduced in peptidergic vesicles and in endosomes/lysosomes (P < 0.001), as was the ATP‐evoked attenuation of vesicle mobility. Similar impairment of peptidergic vesicle trafficking was observed in wt rat astrocytes transfected to express mutated presenilin 1 (PS1M146V). The ATP‐evoked ANP discharge from single vesicles was less efficient in 3xTg‐AD and PS1M146V‐expressing astrocytes than in respective wt controls (P < 0.05). Purinergic stimulation evoked biphasic and oscillatory [Ca2+]i responses; the latter were less frequent (P < 0.001) in 3xTg‐AD astrocytes. Expression of PS1M146V in astrocytes impairs vesicle dynamics and reduces evoked secretion of the signaling molecule ANP; both may contribute to the development of AD. GLIA 2016;64:317–329
Soil pipe flow tracer experiments: 1. Connectivity and transport characteristics
Authors: Wilson G. V. , Rigby J. R. , Ursic M. , Dabney S. M.
Published: October 2015

Much debate has occurred in catchment hydrology regarding the connectivity of flow paths from upslope areas to catchment outlets. This study was conducted in two catchments, one with three upper branches, in a loess soil with a fragipan that fosters lateral flow and exhibits an extensive distribution of soil pipe collapse features. The study aimed to determine the connectivity of multiple soil pipe networks as well as determine pipe flow velocities during storm events. Fluorescein dye was injected directly into soil pipes at the upper most pipe collapse feature of four different hillslopes. Breakthrough curves (BTC) were determined by sampling multiple pipe collapse features downslope. The BTCs were used to determine the ‘average’ (centre of mass) and ‘maximum’ (first arrival) flow velocities. This study confirmed that these catchments contain individual continuous soil pipe networks that extend over 190 m and connect the upper most hillslopes areas with the catchment outlet. While the flow paths are continuous, the individual pipe networks consist of alternating reaches of subsurface flow through soil pipes and reaches of surface flow through gullies formed by pipe collapses. In addition, flow can be occurring both through the subsurface soil pipes simultaneous with surface flow generated by artesian flow from the soil pipes. The pipe flow velocities were as high as 0.3 m/s, which was in the range of streamflow velocities. These pipe flow velocities were also in the range of velocities observed in pinhole erosion tests suggesting that these large, mature soil pipes are still actively eroding. Copyright © 2015 John Wiley & Sons, Ltd.
Assessment of the impact of pools on the water isotopic signature of a boreal patterned peatland
Authors: Carrer Gwenael E. , Rousseau Alain N. , Jutras Sylvain , Fossey Maxime
Published: October 2015

Recent studies have shown that boreal peatlands exhibit considerable chemical variability but without clear spatial pattern. This chemical heterogeneity illustrates the complex hydrological behaviour of peatlands, particularly patterned fen. Isotopic, chemical and physical tracers were used to describe the hydrological behaviour of a small boreal headwater catchment (13 ha) during the snow‐free period with a special emphasis on the downstream patterned fen. Results showed that shallow pools were mixed every day during the summer, particularly during nights or discharge periods. Despite large water storage capacities in pools, which should induce large buffer effect, hydrological behaviour of patterned fen is more similar to a piston flow process. This is probably because of the division of the fen into successive small cascading streamflow reservoirs. The consequences were a rapid change of the chemical signature throughout the fen, particularly upstream. A spatial pattern was observed downstream in early summer. The isotopic signature passed from an upstream depleted and homogeneous signature to a progressively enriched downstream signature. However, this pattern was not identified during the wetter period (late summer), probably because the discharge, which dominated the water budget, decreased the surface water residence time and flushed a large proportion of stored surface water. We developed for this patterned fen a conceptual model of the surface flow to explain these particular mixing effects and the implications on the dynamics of the chemical signature. To further our understanding of similar boreal headwater catchments, future work should include the development of a multiple mixed‐reservoir model. Copyright © 2015 John Wiley & Sons, Ltd.