bluuebunny/crossref_metadata_2025_split huggingface dataset:
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Authors: Yoo Yongjin , Jung Jane , Lee Yoo‐Na , Lee Youngha , Cho Hyosuk , Na Eunjung , Hong JeaYeok , Kim Eunjin , Lee Jin Sook , Lee Je Sang , Hong Chansik , Park Sang‐Yoon , Wie Jinhong , Miller Kathryn , Shur Natasha , Clow Cheryl , Ebel Roseànne S. , DeBrosse Suzanne D. , Henderson Lindsay B. , Willaert Rebecca , Castaldi Christopher , Tikhonova Irina , Bilgüvar Kaya , Mane Shrikant , Kim Ki Joong , Hwang Yong Seung , Lee Seok‐Geun , So Insuk , Lim Byung Chan , Choi Hee‐Jung , Seong Jae Young , Shin Yong Beom , Jung Hosung , Chae Jong‐Hee , Choi Murim 
Published: August 2017

ObjectiveRett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary of the two conditions, complicating accurate diagnosis and appropriate medical interventions. Therefore, we investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions.MethodsWe screened novel genetic factors from 34 RTT‐like patients without MECP2 mutations, which account for ∼90% of RTT cases, by whole‐exome sequencing. The biological function of the discovered variants was assessed in cell culture and Xenopus tropicalis models.ResultsWe identified a recurring de novo variant in GABAB receptor R2 (GABBR2) that reduces the receptor function, whereas different GABBR2 variants in EE patients possess a more profound effect in reducing receptor activity and are more responsive to agonist rescue in an animal model.InterpretationGABBR2 is a genetic factor that determines RTT‐ or EE‐like phenotype expression depending on the variant positions. GABBR2‐mediated γ‐aminobutyric acid signaling is a crucial factor in determining the severity and nature of neurodevelopmental phenotypes. Ann Neurol 2017;82:466–478
Correct Modeling of Cisplatin: a Paradigmatic Case
Authors: Tasinato Nicola , Puzzarini Cristina , Barone Vincenzo 
Published: August 2017

AbstractQuantum chemistry is a useful tool in modern approaches to drug and material design, but only when the adopted model reflects a correct physical picture. Paradigmatic is the case of cis‐diaminodichloroplatinum(II), cis‐[Pt(NH3)2Cl2], for which the correct simulation of the structural and vibrational properties measured experimentally still remains an open question. By using this molecule as a proof of concept, it is shown that state‐of‐the‐art quantum chemical calculations and a simple model, capturing the basic physical flavors, a cis‐[Pt(NH3)2Cl2] dimer, can provide the accuracy required for interpretative purposes. The present outcomes have fundamental implications for benchmark studies aiming at assessing the accuracy of a given computational protocol.
Selenium and Selenocysteine in Protein Chemistry
Authors: Mousa Reem , Notis Dardashti Rebecca , Metanis Norman 
Published: August 2017

AbstractSelenocysteine, the selenium‐containing analogue of cysteine, is the twenty‐first proteinogenic amino acid. Since its discovery almost fifty years ago, it has been exploited in unnatural systems even more often than in natural systems. Selenocysteine chemistry has attracted the attention of many chemists in the field of chemical biology owing to its high reactivity and resulting potential for various applications such as chemical modification, chemical protein (semi)synthesis, and protein folding, to name a few. In this Minireview, we will focus on the chemistry of selenium and selenocysteine and their utility in protein chemistry.
Rendering Photoreactivity to Ceria: The Role of Defects
Authors: Yang Chengwu , Yu Xiaojuan , Pleßow Philipp N. , Heißler Stefan , Weidler Peter G. , Nefedov Alexei , Studt Felix , Wang Yuemin , Wöll Christof 
Published: August 2017

AbstractThe photoreactivity of ceria, a photochemically inert oxide with a large band gap, can be increased to competitive values by introducing defects. This previously unexplained phenomenon has been investigated by monitoring the UV‐induced decomposition of N2O on well‐defined single crystals of ceria by using infrared reflection‐absorption spectroscopy (IRRAS). The IRRAS data, in conjunction with theory, provide direct evidence that reducing the ceria(110) surface yields high photoreactivity. No such effects are seen on the (111) surface. The low‐temperature photodecomposition of N2O occurs at surface O vacancies on the (110) surface, where the electron‐rich cerium cations with a significantly lowered coordination number cause a local lowering of the huge band gap (ca. 6 eV). The quantum efficiency of strongly reduced ceria(110) surfaces in the photodecomposition of N2O amounts to 0.03 %, and is thus comparable to that reported for the photooxidation of CO on rutile TiO2(110).
Light‐Activated Active Colloid Ribbons
Authors: Lin Zhihua , Si Tieyan , Wu Zhiguang , Gao Changyong , Lin Xiankun , He Qiang 
Published: August 2017

AbstractWe report a dynamic self‐organization of self‐propelled peanut‐shaped hematite motors from non‐equilibrium driving forces where the propulsion can be triggered by blue light. They result in one‐dimensional, active colloid ribbons with a positive phototactic characteristic. The motion of colloid motors is ascribed to the diffusion‐osmotic flow in a chemical gradient by the photocatalytic decomposition of hydrogen peroxide fuel. We show that self‐propelled peanut‐shaped colloids readily form one‐dimensional, slithering ribbon structures under the out‐of‐equilibrium collisions. This self‐organization intrinsically results from the competition among the osmotically driven motion, the phoretic attraction and the inherent magnetic moments. The giant size number fluctuation in colloid ribbons is observed above a critical point 4.1 % of the surface density of colloid motors. Such phototactic colloid ribbons may provide a model system to understand the emergence of function in biological systems and have potential to construct bioinspired active materials based on different active building blocks.
Star‐shaped Polymers through Simple Wavelength‐Selective Free‐Radical Photopolymerization
Authors: Eibel Anna , Fast David E. , Sattelkow Jürgen , Zalibera Michal , Wang Jieping , Huber Alex , Müller Georgina , Neshchadin Dmytro , Dietliker Kurt , Plank Harald , Grützmacher Hansjörg , Gescheidt Georg 
Published: August 2017

AbstractStar‐shaped polymers represent highly desired materials in nanotechnology and life sciences, including biomedical applications (e.g., diagnostic imaging, tissue engineering, and targeted drug delivery). Herein, we report a straightforward synthesis of wavelength‐selective multifunctional photoinitiators (PIs) that contain a bisacylphosphane oxide (BAPO) group and an α‐hydroxy ketone moiety within one molecule. By using three different wavelengths, these photoactive groups can be selectively addressed and activated, thereby allowing the synthesis of ABC‐type miktoarm star polymers through a simple, highly selective, and robust free‐radical polymerization method. The photochemistry of these new initiators and the feasibility of this concept were investigated in unprecedented detail by using various spectroscopic techniques.
Photoredox Imino Functionalizations of Olefins
Authors: Davies Jacob , Sheikh Nadeem S. , Leonori Daniele 
Published: August 2017

AbstractShown herein is that polyfunctionalized nitrogen heterocycles can be easily prepared by a visible‐light‐mediated radical cascade process. This divergent strategy features the oxidative generation of iminyl radicals and subsequent cyclization/radical trapping, which allows the effective construction of highly functionalized heterocycles. The reactions proceed efficiently at room temperature, utilize an organic photocatalyst, use simple and readily available materials, and generate, in a single step, valuable building blocks that would be difficult to prepare by other methods.
The effect of using different types of nanoparticles on optimal design of fin and tube heat exchanger
Authors: Hajabdollahi Zahra , Hajabdollahi Hassan , Fu Pei Fang 
Published: August 2017

AbstractApplication of different types of nanoparticles including Al2O3, SiO2, and CuO is studied to find the effects of nanoparticles on the thermoeconomic optimization of a fin and tube heat exchanger. The effectiveness and the total annual cost are considered as objective functions, and optimization is performed using multi‐objective particle swarm optimization algorithm by selection of nine design parameters including nanoparticle volumetric concentration and parameters related to the heat exchanger geometry. The effect of nanoparticles on total annual cost (TAC) vs effectiveness indicates that TAC increases by increase of effectiveness. The results also reveal that in all the studied cases, thermoeconomic improvement is found in the case of nanoparticle additive compared with the base fluid for the high heat exchanger effectiveness. Moreover, application of Al2O3 and CuO is more beneficial than SiO2 in the aspect of thermoeconomic point of view. Furthermore, Al2O3 causes a higher effectiveness in the case of considering nanoparticle price, while in the case of neglecting nanoparticle price, CuO is the best for the higher effectiveness. © 2017 Curtin University and John Wiley & Sons, Ltd.
Preparation and relaxation dynamics of ethylene–propylene–diene rubber/clay nanocomposites with crosslinking interfacial design
Authors: Zhang Fengshun , Zhao Qi , Liu Tao , Lei Yajie , Chen Chao 
Published: August 2017

ABSTRACTEthylene–propylene–diene rubber (EPDM)/clay nanocomposites with crosslinking bonding at the interface were fabricated through the intercalation method involving double‐bond functional groups. For comparison, an organoclay modified with an intercalation agent without double bonds was also prepared. X‐ray diffraction indicated that the EPDM intercalated into the galleries of the nanoclay due to crosslinking with the organic intercalation reagent containing double bonds. According to the dielectric relaxation spectra, the segmental relaxation of EPDM was greatly confined, due to the strong filler/polymer interfacial interaction. And a new relaxation appeared at higher temperature and lower frequency than segmental relaxation when the content of clay with double bonds reached 10 phr; the new relaxation is attributed to interfacial relaxation. Whereas the new relaxation did not appear by adding ordinary organoclay, the dynamic mechanical analysis loss peak of EPDM, corresponding to the glass transition, moved to a higher temperature due to covulcanization. The presence of crosslinking in the EPDM/clay nanocomposites can play a significant role in improving their mechanical properties. © 2017 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2018, 135, 45553.
Use of LIDAR and photointerpretation to map the water supply at the Las Murias‐Los Tallares Roman gold mine (Castrocontrigo, León, Spain)
Authors: Matías Roberto , Llamas Bernardo 
Published: August 2017

AbstractA comprehensive study of the water supply at Las Murias‐Los Tallares Roman gold mine (Castrocontrigo, León, Spain) was conducted using LIDAR technology and photointerpretation that revealed all‐new and interesting aspects both as concerns the length of the channels and their structure and supply capacity.Although LIDAR technology proves to be very valuable and essential to analysing Roman hydraulic mining structures, there are various limitations when reconstructing supply systems due to the accuracy of LIDAR data and the deterioration of the structures after having been abandoned for nearly 2,000 years.
North Atlantic polar lows and weather regimes: do current links persist in a warmer climate?
Authors: Mallet Paul‐Etienne , Claud Chantal , Vicomte Marie 
Published: August 2017

AbstractPolar low development over the North Atlantic under a warmer climate is assessed using simulations of an atmospheric–oceanic coupled general circulation model, specifically with regards to the evolution of large‐scale atmospheric variability described by weather regimes, and their links with lower‐layer static stability. While a relationship has been identified for the present climate, under a warmer climate, polar low favorable conditions are expected to occur less often, and the large‐scale circulation variability appears to have reduced influence on stability, and thus, on polar low occurrence.
Children's Sensitivity to Cost and Reward in Decision Making across Distinct Domains of Probability, Effort, and Delay
Authors: Gatzke‐Kopp Lisa M. , Ram Nilam , Lydon‐Staley David M. , DuPuis David 
Published: August 2017

AbstractMany behavioral paradigms used to study individuals' decision‐making tendencies do not capture the decision components that contribute to behavioral outcomes, such as differentiating decisions driven toward a reward from decisions driven away from a cost. This study tested a novel decision‐making task in a sample of 403 children (age 9 years) enrolled in an ongoing longitudinal study. The task consisted of three blocks representing distinct cost domains (delay, probability, and effort), wherein children were presented with a deck of cards, each of which consisted of a reward and a cost. Children elected whether to accept or skip the card at each trial. Reward–cost pairs were selected by using an adaptive algorithm to strategically sample the decision space in the fewest number of trials. Using person‐specific regression models, decision preferences were quantified for each cost domain with respect to general tolerance (intercept), as well as parameters estimating the effect of incremental increases in reward or cost on the probability of accepting a card. Results support the relative independence of decision‐making tendencies across cost domains, with moderate correlations observed between tolerance for delay and effort. Specific decision parameters showed unique associations with cognitive and behavioral measures including executive function, academic motivation, anxiety, and hyperactivity. Evidence indicates that sensitivity to reward is an important factor in incentivizing decisions to work harder or wait longer. Dissociating the relative contributions of reward and cost sensitivity in multiple domains may facilitate the identification of heterogeneity in suboptimal decision making. Copyright © 2017 John Wiley & Sons, Ltd.
Retrospective study on timing of resection of hepatocellular adenoma
Authors: Klompenhouwer A J , Bröker M E E , Thomeer M G J , Gaspersz M P , de Man R A , IJzermans J N M 
Published: August 2017

Abstract

Background
Hepatocellular adenoma (HCA) is a benign liver tumour that may be complicated by bleeding or malignant transformation. Present guidelines advise cessation of oral contraceptives and surgical resection if the lesion is still larger than 5 cm at 6 months after diagnosis. The aim of this study was to evaluate whether this 6-month interval is sufficient to expect regression of a large HCA to 5 cm or smaller.

Methods
This retrospective cohort study included all patients with an HCA larger than 5 cm diagnosed between 1999 and 2015 with follow-up of at least 6 months. Medical records were reviewed for patient characteristics, clinical presentation, lesion characteristics, management and complications. Differences in characteristics were assessed between patients kept under surveillance and those who underwent treatment for an HCA larger than 5 cm.

Results
Some 194 patients were included, of whom 192 were women. Eighty-six patients were kept under surveillance and 108 underwent HCA treatment. Patients in the surveillance group had a significantly higher BMI (P = 0·029), smaller baseline HCA diameter (P &lt; 0·001), more centrally located lesions (P &lt; 0·001) and were more likely to have multiple lesions (P = 0·001) than those in the treatment group. There were no significant differences in sex, age at diagnosis, symptoms, complication rates and HCA subtype distribution. Time-to-event analysis in patients managed conservatively and those still undergoing treatment more than 6 months after diagnosis showed that 69 of 118 HCAs (58·5 per cent) regressed to 5 cm or smaller after a median of 104 (95 per cent c.i. 80–128) weeks. Larger HCAs took longer to regress (P &lt; 0·001). No complications were documented during follow-up.

Conclusion
This study suggests that a 6-month cut-off point for assessment of regression of HCA larger than 5 cm to no more than 5 cm is too early. As no complications were documented during follow-up, the cut-off point in women with typical, non-β-catenin-activated HCA could be prolonged to 12 months, irrespective of baseline diameter.
Natural history of anorectal sepsis
Authors: Sahnan K , Askari A , Adegbola S O , Tozer P J , Phillips R K S , Hart A , Faiz O D 
Published: August 2017

Abstract

Background
Progression from anorectal abscess to fistula is poorly described and it remains unclear which patients develop a fistula following an abscess. The aim was to assess the burden of anorectal abscess and to identify risk factors for subsequent fistula formation.

Methods
The Hospital Episode Statistics database was used to identify all patients presenting with new anorectal abscesses. Cox regression analysis was undertaken to identify factors predictive of fistula formation.

Results
A total of 165 536 patients were identified in the database as having attended a hospital in England with an abscess for the first time between 1997 and 2012. Of these, 158 713 (95·9 per cent) had complete data for all variables and were included in this study, the remaining 6823 (4·1 per cent) with incomplete data were excluded from the study. The overall incidence rate of abscess was 20·2 per 100 000. The rate of subsequent fistula formation following an abscess was 15·5 per cent (23 012 of 148 286) in idiopathic cases and 41·6 per cent (4337 of 10 427 in patients with inflammatory bowel disease (IBD) (26·7 per cent coded concurrently as ulcerative colitis; 47·2 per cent coded as Crohn's disease). Of all patients who developed a fistula, 67·5 per cent did so within the first year. Independent predictors of fistula formation were: IBD, in particular Crohn's disease (hazard ratio (HR) 3·51; P &lt; 0·001), ulcerative colitis (HR 1·82; P &lt; 0·001), female sex (HR 1·18; P &lt; 0·001), age at time of first abscess 41–60 years (HR 1·85 versus less than 20 years; P &lt; 0·001), and intersphincteric (HR 1·53; P &lt; 0·001) or ischiorectal (HR 1·48; P &lt; 0·001) abscess location compared with perianal. Some 2·9 per cent of all patients presenting with a new abscess were subsequently diagnosed with Crohn's disease; the median time to diagnosis was 14 months.

Conclusion
The burden of anorectal sepsis is high, with subsequent fistula formation nearly three times more common in Crohn's disease than idiopathic disease, and female sex is an independent predictor of fistula formation following abscess drainage. Most fistulas form within the first year of presentation with an abscess.
Songs about cancer, gene expression, and the biochemistry of photosynthesis
Authors: Heineman Richard H. 
Published: August 2017

AbstractThese three biology songs can be used for educational purposes to teach about biochemical concepts. They touch on three different topics: (1) cancer progression and germ cells, (2) gene expression, promoters, and repressors, and (3) electronegativity and the biochemical basis of photosynthesis. © 2017 by The International Union of Biochemistry and Molecular Biology, 46(1):98–99, 2018.
The association between lesion location, sex and poststroke depression: Meta‐analysis
Authors: Zhang Ying , Zhao Hui , Fang Yan , Wang Suishan , Zhou Haiyun 
Published: August 2017

AbstractBackgroundPoststroke depression (PSD) is a common form of stroke patients. Whether the risk of PSD is influenced by the stroke lesion location and sex remains a matter of debate. The objective of this study was to examine the association between the risk of PSD and the stroke lesion location and sex by performing a systematic meta‐analysis.MethodsSubgroup analyses were performed according to the time interval after stroke onset to assessment for PSD. A total of 31 reports involving 5,309 subjects (for lesion location analysis) and 5,489 subjects (for sex analysis) suffering from stroke were included in this meta‐analysis.ResultsThe pooled odds ratio (OR) of PSD after a left‐hemisphere stroke, compared with a right‐hemisphere stroke was 1.11 (95% confidence interval [CI] 0.82–1.49) and OR of PSD after a male stroke, compared with a female stroke was 0.68 (95% CI 0.58–0.81). Subacute poststroke subgroup (1–6 months) significantly favored PSD occurring after a left hemisphere stroke (OR = 1.50, 95% CI 1.21–1.87). Furthermore, there was a statistically significant association between PSD and female stroke for studies with acute poststroke group (OR = 0.73, 95% CI 0.62–0.86) and subacute poststroke stroke phase (OR = 0.69, 95% CI 0.56–0.86).ConclusionsThis systematic review suggests that patients with left hemisphere stroke may be more susceptible to PSD during subacute phase of stroke and female stroke may be more susceptible to PSD during acute and subacute phase of stroke.
Using machine learning to classify temporal lobe epilepsy based on diffusion MRI
Authors: Del Gaizo John , Mofrad Neda , Jensen Jens H. , Clark David , Glenn Russell , Helpern Joseph , Bonilha Leonardo 
Published: August 2017

AbstractBackgroundIt is common for patients diagnosed with medial temporal lobe epilepsy (TLE) to have extrahippocampal damage. However, it is unclear whether microstructural extrahippocampal abnormalities are consistent enough to enable classification using diffusion MRI imaging. Therefore, we implemented a support vector machine (SVM)‐based method to predict TLE from three different imaging modalities: mean kurtosis (MK), mean diffusivity (MD), and fractional anisotropy (FA). While MD and FA can be calculated from traditional diffusion tensor imaging (DTI), MK requires diffusion kurtosis imaging (DKI).MethodsThirty‐two TLE patients and 36 healthy controls underwent DKI imaging. To measure predictive capability, a fivefold cross‐validation (CV) was repeated for 1000 iterations. An ensemble of SVM models, each with a different regularization value, was trained with the subject images in the training set, and had performance assessed on the test set. The different regularization values were determined using a Bayesian‐based method.ResultsMean kurtosis achieved higher accuracy than both FA and MD on every iteration, and had far superior average accuracy: 0.82 (MK), 0.68 (FA), and 0.51 (MD). Finally, the MK voxels with the highest coefficients in the predictive models were distributed within the inferior medial aspect of the temporal lobes.ConclusionThese results corroborate our earlier publications which indicated that DKI shows more promise in identifying TLE‐associated pathological features than DTI. Also, the locations of the contributory MK voxels were in areas with high fiber crossing and complex fiber anatomy. These traits result in non‐Gaussian water diffusion, and hence render DTI less likely to detect abnormalities. If the location of consistent microstructural abnormalities can be better understood, then it may be possible in the future to identify the various phenotypes of TLE. This is important since treatment outcome varies dependent on type of TLE.