bluuebunny/crossref_metadata_2025 huggingface dataset:
Spatial distribution of Aedes aegypti (Diptera: Culicidae) in the rural area of two municipalities of Cundinamarca, Colombia
Authors: Cabezas Laura , Cabanzo Wilson , Santa Fernando , Olano Victor Alberto , Sarmiento Diana , Vargas Sandra , Jaramillo Juan Felipe , Stenstrom Thor-Axel , Overgaard Hans J. , Matiz María Inés
Published: May 2017

Introducción. Es difícil adaptar o formular nuevas estrategias para el control del dengue en las áreas rurales debido a la dispersión de los hogares y a la falta de conocimiento sobre la presencia y el comportamiento del vector en estas áreas. El análisis de los datos espaciales podría ayudar a comprender las dinámicas temporales y espaciales relacionadas con la transmisión de enfermedades transmitidas por vectores en las zonas rurales y, por lo tanto, contribuir a la prevención y el control del dengue.Objetivo. Determinar la probabilidad de la presencia del vector del dengue, Aedes aegypti, en el área rural de los municipios de Anapoima y La Mesa, Cundinamarca, Colombia.Materiales y métodos. Se visitaron 102 viviendas del área rural, se inspeccionaron los criaderos potenciales del mosquito A. aegypti y se capturaron las formas adultas encontradas en su interior. La probabilidad de la presencia o la ausencia del vector en el área de estudio, se estableció mediante el método de interpolación espacial kriging.Resultados. La región con mayor probabilidad para la presencia del vector se encontró en la parte central, cerca de los centros urbanos de los dos municipios.Conclusión. Los análisis de las dinámicas espacio-temporales de los vectores de enfermedades pueden utilizarse en los sistemas para su vigilancia, con el fin de complementar los métodos usados actualmente, optimizar la determinación de las áreas de intervención de control vectorial y ahorrar recursos.
Case for diagnosis: A 66- year old man with exulcerated nodules of his left elbow of four years of evolution
Authors: Rodríguez Gerzaín
Published: May 2017

Un hombre de 66 años presentaba nódulos cutáneos del codo izquierdo, con adenopatía satélite, de 1 cm de diámetro y 4 años de evolución. Biopsias de piel mostraron lesiones limitadas a la dermis, constituidas por células fusiformes, macrófagos vacuolados, abscesos, algunas células gigantes de Touton, esbozos de granulomas epitelioides y plasmocitos dispersos en la lesión y abundantes en su borde profundo. Los nervios profundos estaban rodeados por la inflamación, que no los penetraba y lucían bien preservados. Las coloraciones de ZN y PAS mostraron enorme número de bacilos fagocitados, en la dermis y en el ganglio linfático. No había bacilos intraneurales, hallazgo que descartó lepra y sugirió la posibilidad de lesiones por M. avium, bacilo ácido-alcohol resistente y PAS +. No se hicieron cultivos. El paciente curó con tres meses de tratamiento con claritromicina. No hay historia de inmunosupresión ni de trauma local. Concluimos que las biopsias cutáneas ricas en células fusiformes, histiocitos elongados, plasmocitos dispersos, que sugieran lepra histioide, deben estudiarse con coloraciones de ZN, PAS y Grocott. Todas son positivas en lepra multibacilar pero solo en la lepra hay bacilos intraneurales. Varias micobacterias atípicas son ZN y PAS +, pero no generan daño neural. Estas se deben identificar por cultivo o por PCR. El paciente debe estudiarse para determinar si sus lesiones son exclusivamente cutáneas o si hay compromiso sistémico o inmunosupresión. El tratamiento debe incluir al menos dos medicamentos y debe suministrarse durante dos meses más después de la curación clínica aparente. Revisamos literatura significativa sobre el tema.
Cave features, seasonality and subterranean distribution of non-obligate cave dwellers
Authors: Lunghi Enrico , Manenti Raoul , Ficetola Gentile Francesco
Published: May 2017

Seasonality impacts species distributions through changes of the environmental conditions that affect the presence of individuals at a given place. Although the dynamics of cave microclimates are well known, only a few studies have evaluated the effects of such dynamics on non-strictly cave species. Here we assessed if species exploiting subterranean environments show changes in habitat occupation related to seasonal variation of cave microclimates. We surveyed 16 caves in central Italy every month for one year. Caves were subdivided into longitudinal sectors of three meters. In each sector we measured cave morphology and microclimatic features, assessed the occurrence of eight non-troglobitic taxa (orthopterans, spiders, gastropods and amphibians), and related species distribution to environmental features and sampling periods. The occurrence of most species was related to both cave morphology and microclimatic features. The survey month was the major factor determining the presence of species in cave sectors, indicating that cave-dwelling taxa show strong seasonality in activity and distribution. For multiple species, we detected interactions between sampling period and microclimatic features, suggesting that species may associate with different microhabitats throughout the year. The richest communities were found in sites with specific microclimates (i.e., high humidity, warm temperature and low light) but seasonality for species richness was strong as well, stressing the complexity of interactions between outdoor and subterranean environments.
Conformational flexibility in the RNA stem‐loop structures formed by CAG repeats
Authors: Guo Pei , Chan Ho Yin Edwin , Lam Sik Lok
Published: May 2017

The expansion of CAG repeats has been found to be associated with at least nine human genetic disorders. In these disorders, the full‐length expanded CAG RNA transcripts are cleaved into small CAG‐repeated RNAs which are cytotoxic and known to be capable of forming hairpins. To better understand the RNA pathogenic mechanism, in this study we have performed high‐resolution nuclear magnetic resonance structural investigations on the RNA hairpins formed by CAG repeats. Our results show the formation of a type III AGCA tetraloop and reveal the effect of stem rigidity on the loop conformational flexibility.
Accurate estimation of seismic source parameters of induced seismicity by a combined approach of generalized inversion and genetic algorithm: Application to The Geysers geothermal area, California
Authors: Picozzi M. , Oth A. , Parolai S. , Bindi D. , De Landro G. , Amoroso O.
Published: May 2017

The accurate determination of stress drop, seismic efficiency, and how source parameters scale with earthquake size is an important issue for seismic hazard assessment of induced seismicity. We propose an improved nonparametric, data‐driven strategy suitable for monitoring induced seismicity, which combines the generalized inversion technique together with genetic algorithms. In the first step of the analysis the generalized inversion technique allows for an effective correction of waveforms for attenuation and site contributions. Then, the retrieved source spectra are inverted by a nonlinear sensitivity‐driven inversion scheme that allows accurate estimation of source parameters. We therefore investigate the earthquake source characteristics of 633 induced earthquakes (Mw 2–3.8) recorded at The Geysers geothermal field (California) by a dense seismic network (i.e., 32 stations, more than 17.000 velocity records). We find a nonself‐similar behavior, empirical source spectra that require an ωγ source model with γ > 2 to be well fit and small radiation efficiency ηSW. All these findings suggest different dynamic rupture processes for smaller and larger earthquakes and that the proportion of high‐frequency energy radiation and the amount of energy required to overcome the friction or for the creation of new fractures surface changes with earthquake size. Furthermore, we observe also two distinct families of events with peculiar source parameters that in one case suggests the reactivation of deep structures linked to the regional tectonics, while in the other supports the idea of an important role of steeply dipping faults in the fluid pressure diffusion.
Search for active lava flows with VIRTIS on Venus Express
Authors: Mueller N. T. , Smrekar S. , Helbert J. , Stofan E. , Piccioni G. , Drossart P.
Published: May 2017

The Visible Infrared Thermal Imaging Spectrometer (VIRTIS) instrument on Venus Express observed thermal emission from the surface of Venus at 1 μm wavelength and thus would have detected sufficiently bright incandescent lava flows. No eruptions were detected in the observations between April 2006 and October 2008, covering an area equivalent to 7 times the planets surface on separate days. Models of the cooling of lava flows on Earth are adapted to Venus ambient conditions to predict thermal emission based on effusion rate. Taking into account the blurring of surface thermal emission by the atmosphere, the VIRTIS images would detect eruptions with effusion rates above 500 to 1000 m3/s. On Earth such eruptions occur but are rare. Based on an eruption rate and duration distribution fitted to historical data of three terrestrial volcanos, we estimate that only a few percent of all eruptions are detectable. With these assumptions the VIRTIS data can constrain the rate of effusive volcanism on Venus to be less than about 300 km3/yr, at least an order of magnitude higher than existing constraints. There remains a large uncertainty because of unknown properties of lava flows on Venus. Resolving flows in radar imaging and their thickness in altimetry might help to better constrain these properties. While VIRTIS data do not represent a significant constraint on volcanism, an optimized instrument with a 20 times better signal‐to‐noise ratio would likely be able to detect effusion rates on the order of 50 m3/s.
South Pole Aitken Basin magnetic anomalies: Evidence for the true polar wander of Moon and a lunar dynamo reversal
Authors: Arkani‐Hamed Jafar , Boutin Daniel
Published: May 2017

The analysis of the Lunar Prospector magnetic data over South Pole Aitken basin reveals two categories of magnetic anomalies with distinctly different polarities. Modeling the anomalies in terms of vertical prism source bodies shows two separate true polar wander paths of the Moon. One is driven by the giant surface mass deficiency resulted from the formation of the South Pole Aitken basin and the other by the giant surface mass concentrations (mascons) formed inside the large impact basins, such as Serenitatis and Imbrium, and a vast volcanic deposit on Procellarum Terrane. A total of ~100° true polar wander path suggests that the source bodies are formed and magnetized during a long period. Moreover, the distinctly different polarities of the two categories of the anomalies support the idea that the core dynamo underwent a reversal or shutdown and started up with a different polarity, caused by the latter impacts. The impact‐induced shock pressures of 10–20 GPa traveling inside the lunar core, the appreciable angular momentum transfer to the lunar mantle by the impacting bodies, and the impact‐induced stratification of the core probably reversed the polarity of the core dynamo. We also model the north Crisium magnetic anomaly, extracted from the Lunar Prospector magnetic data. The paleomagnetic pole position obtained for the source body reveals that the north Crisium anomaly belongs to the first category of the anomalies.
Impact velocity dependence of transient cratering growth
Authors: Yamamoto S. , Hasegawa S. , Suzuki A. I. , Matsunaga T.
Published: May 2017

The present paper describes observations of crater growth for various impact velocities up to ∼6 km s−1. Spherical polycarbonate projectiles (4.76 mm) were impacted vertically into dry sand targets at impact velocities vi ranging from 0.7 to ∼6 km s−1, and the temporal change (diameter growth) in diameter of crater cavities was measured by a high‐speed profilometer with 2000 frames per second. Our data show that the diameter growth follows a power law relation at the early stages, but the data at the later stages deviate from the power law relation. It is also shown that the power law exponent at the early stages decreases with increasing vi, indicating a possibility that the growth rate of the transient crater cavity decreases with increasing vi. On the other hand, the power law relation for final crater sizes in our data is consistent with the classical scaling relation for final crater sizes, which is thought to be independent of vi. Thus, our data may suggest that there is a difference in the power law behavior between the crater growth and the final crater sizes.
CO2 flux from Javanese mud volcanism
Authors: Queißer M. , Burton M. R. , Arzilli F. , Chiarugi A. , Marliyani G. I. , Anggara F. , Harijoko A.
Published: May 2017

Studying the quantity and origin of CO2 emitted by back‐arc mud volcanoes is critical to correctly model fluid‐dynamical, thermodynamical, and geochemical processes that drive their activity and to constrain their role in the global geochemical carbon cycle. We measured CO2 fluxes of the Bledug Kuwu mud volcano on the Kendeng Fold and thrust belt in the back arc of Central Java, Indonesia, using scanning remote sensing absorption spectroscopy. The data show that the expelled gas is rich in CO2 with a volume fraction of at least 16 vol %. A lower limit CO2 flux of 1.4 kg s−1 (117 t d−1) was determined, in line with the CO2 flux from the Javanese mud volcano LUSI. Extrapolating these results to mud volcanism from the whole of Java suggests an order of magnitude total CO2 flux of 3 kt d−1, comparable with the expected back‐arc efflux of magmatic CO2. After discussing geochemical, geological, and geophysical evidence we conclude that the source of CO2 observed at Bledug Kuwu is likely a mixture of thermogenic, biogenic, and magmatic CO2, with faulting controlling potential pathways for magmatic fluids. This study further demonstrates the merit of man‐portable active remote sensing instruments for probing natural gas releases, enabling bottom‐up quantification of CO2 fluxes.
Microstructural evidence for seismic and aseismic slips along clay‐bearing, carbonate faults
Authors: Smeraglia Luca , Bettucci Andrea , Billi Andrea , Carminati Eugenio , Cavallo Andrea , Di Toro Giulio , Natali Marco , Passeri Daniele , Rossi Marco , Spagnuolo Elena
Published: May 2017

In this multimethodological study, microstructural observations of fault rocks are combined with micromechanical property analyses (contact resonance atomic force microscopy (CR‐AFM)) and with rotary friction experiments (Slow‐ to High‐Velocity rotary‐shear friction Apparatus apparatus) to find evidence of seismic to aseismic slip and understand the nanoscale rheology of clay‐bearing, carbonate‐hosted faults. Fluidized structures, truncated clasts, pores and vesicles, and phyllosilicate nanosized spherules and tubes suggest fast deformation events occurred during seismic slip, whereas clay‐assisted pressure‐solution processes, clumped clasts, foliation surfaces, and mantled clasts indicate slow deformation events occurred during postseismic/interseismic periods. CR‐AFM measurements show that the occurrence of ~5 wt % of clay within the carbonate‐hosted gouges can significantly reduce the fault core stiffness at nanoscale. In addition, during high‐velocity friction experiments simulating seismic slip conditions, the presence of ultrathin phyllosilicate‐bearing (≤3 wt %) layers within calcite gouges, as those observed in the natural fault, show faster dynamic weakening than that of pure calcite gouges. The weak behavior of such layers could facilitate the upward propagation of seismic slip during earthquakes, thus possibly enhancing surface faulting. Microstructural observations and experimental evidence fit some well‐known geophysical and geodetic observations on the short‐ to long‐term mechanical behavior of faults such as postseismic/interseismic aseismic creep, interseismic fault locking, and seismic slip propagation up to the Earth's surface.
Changing the Band Gaps by Controlling the Distribution of Initial Particle Size to Improve the Power Factor of N‐Type Bi2Te3 Based Polycrystalline Bulks
Authors: Zhang Chengcheng , Fan Xi An , Hu Jie , Jiang Chengpeng , Xiang Qiusheng , Li Guangqiang , Li Yawei , He Zhu
Published: May 2017

In this work, n‐type Bi2Te2.7Se0.3 bulks are prepared by resistance pressure sintering technique from different particle sized powders, and the microstructure and electrical transport properties are investigated as function of the initial particle size distribution. With the initial particle size decreasing, more antisite defects, grain‐boundaries and interface defects are introduced, and lead to a larger carrier concentration due to donor‐like effect and a lower mobility due to the increasing grain boundary and carrier scattering, which results in a lower Seebeck coefficient and electrical resistivity. As a result, a maximum power factor of about 2.89 mW mK−2 at room temperature is achieved for the bulk sintered from the mix powders with different particle size distribution due to the optimization of the carrier concentration. The band gaps and the intrinsic excitation temperature are effectively adjusted by controlling the particle size in a narrow distribution. The sample sintered from the powders below 400 mesh has the highest average power factor above 2.44 mW mK−2 in the whole testing temperature range due to the improving band gaps and intrinsic excitation temperature.
Damage, Healing, and Remodeling in Optogenetic Skeletal Muscle Bioactuators
Authors: Raman Ritu , Grant Lauren , Seo Yongbeom , Cvetkovic Caroline , Gapinske Michael , Palasz Alexandra , Dabbous Howard , Kong Hyunjoon , Pinera Pablo Perez , Bashir Rashid
Published: May 2017

A deeper understanding of biological materials and the design principles that govern them, combined with the enabling technology of 3D printing, has given rise to the idea of “building with biology.” Using these materials and tools, bio‐hybrid robots or bio‐bots, which adaptively sense and respond to their environment, can be manufactured. Skeletal muscle bioactuators are developed to power these bio‐bots, and an approach is presented to make them dynamically responsive to changing environmental loads and robustly resilient to induced damage. Specifically, since the predominant cause of skeletal muscle loss of function is mechanical damage, the underlying mechanisms of damage are investigated in vitro, and an in vivo inspired healing strategy is developed to counteract this damage. The protocol that is developed yields complete recovery of healthy tissue functionality within two days of damage, setting the stage for a more robust, resilient, and adaptive bioactuator technology than previously demonstrated. Understanding and exploiting the adaptive response behaviors inherent within biological systems in this manner is a crucial step forward in designing bio‐hybrid machines that are broadly applicable to grand engineering challenges.
Affinity‐Immobilization of VEGF on Laminin Porous Sponge Enhances Angiogenesis in the Ischemic Brain
Authors: Oshikawa Mio , Okada Kei , Kaneko Naoko , Sawamoto Kazunobu , Ajioka Itsuki
Published: May 2017

Ischemic brain stroke is caused by blood flow interruption, leading to focal ischemia, neuron death, and motor, sensory, and/or cognitive dysfunctions. Angiogenesis, neovascularization from existing blood vessel, is essential for tissue growth and repair. Proangiogenic therapy for stroke is promising for preventing excess neuron death and improving functional recovery. Vascular endothelial growth factor (VEGF) is a critical factor for angiogenesis by promoting the proliferation, the survival, and the migration of endothelial cells. Here, angiogenic biomaterials to support injured brain regeneration are developed. Porous laminin (LN)‐rich sponge (LN‐sponge), on which histidine‐tagged VEGF (VEGF‐Histag) is immobilized via affinity interaction is developed. In an in vivo mouse stroke model, transplanting VEGF‐Histag‐LN‐sponge produces remarkably stronger angiogenic activity than transplanting LN‐sponge with soluble VEGF. The findings indicate that using affinity interactions to immobilize VEGF is a practical approach for developing angiogenic biomaterials for regenerating the injured brain.
Induction of Chondrogenic Differentiation of Human Mesenchymal Stem Cells by Biomimetic Gold Nanoparticles with Tunable RGD Density
Authors: Li Jingchao , Li Xiaomeng , Zhang Jing , Kawazoe Naoki , Chen Guoping
Published: May 2017

Nanostructured materials have drawn a broad attention for their applications in biomedical fields. Ligand‐modified nanomaterials can well mimic the dynamic extracellular matrix (ECM) microenvironments to regulate cell functions and fates. Herein, ECM mimetic gold nanoparticles (Au NPs) with tunable surface arginine‐glycine‐aspartate (RGD) density are designed and synthesized to induce the chondrogenic differentiation of human mesenchymal stem cells (hMSCs). The biomimetic Au NPs with an average size of 40 nm shows good biocompatibility without affecting the cell proliferation in the studied concentration range. The RGD motifs on Au NPs surface facilitate cellular uptake of NPs into monolayer hMSCs through integrin‐mediated endocytosis. The biomimetic NPs have a promotive effect on cartilaginous matrix production and marker gene expression in cell pellet culture, especially for the biomimetic Au NPs with high surface RGD density. This study provides a novel strategy for fabricating biomimetic NPs to regulate cell differentiation, which holds great potentials in tissue engineering and biomedical applications.
A Three‐Layer All‐In‐One Flexible Graphene Film Used as an Integrated Supercapacitor
Authors: Du Jiamei , Zheng Cheng , Lv Wei , Deng Yaqian , Pan Zhengze , Kang Feiyu , Yang Quan‐Hong
Published: May 2017

The electronic devices are becoming smaller, more flexible, and wearable, thus requiring the energy storage unit to have not only high volumetric energy density but also small thickness and high flexibility. Supercapacitors (SCs), as a typical energy storage device, have the advantage of fast energy charging and releasing. The present progress on SCs implies a tremendous need to transform traditional configuration into flexible and thin enough membrane‐like supercapacitors. This work shows a high volumetric energy density membrane‐like flexible supercapacitor with an rGO‐TiO2/GO/rGO‐TiO2 sandwich structure, in which the rGO‐TiO2 layer is used as the active material and the middle GO layer acts as the separator. The supercapacitor in one compact graphene‐based membrane has shown great flexibility and at the same time guarantees a high volumetric capacity of 237 F cm−3 and a high volumetric energy density of 16 mWh cm−3.
Ultrathin High Surface Area Nickel Boride (NixB) Nanosheets as Highly Efficient Electrocatalyst for Oxygen Evolution
Authors: Masa Justus , Sinev Ilya , Mistry Hemma , Ventosa Edgar , de la Mata Maria , Arbiol Jordi , Muhler Martin , Roldan Cuenya Beatriz , Schuhmann Wolfgang
Published: May 2017

The overriding obstacle to mass production of hydrogen from water as the premium fuel for powering our planet is the frustratingly slow kinetics of the oxygen evolution reaction (OER). Additionally, inadequate understanding of the key barriers of the OER is a hindrance to insightful design of advanced OER catalysts. This study presents ultrathin amorphous high‐surface area nickel boride (NixB) nanosheets as a low‐cost, very efficient and stable catalyst for the OER for electrochemical water splitting. The catalyst affords 10 mA cm−2 at 0.38 V overpotential during OER in 1.0 m KOH, reducing to only 0.28 V at 20 mA cm−2 when supported on nickel foam, which ranks it among the best reported nonprecious catalysts for oxygen evolution. Operando X‐ray absorption fine‐structure spectroscopy measurements reveal prevalence of NiOOH, as well as Ni‐B under OER conditions, owing to a Ni‐B core@nickel oxyhydroxide shell (Ni‐B@NiOxH) structure, and increase in disorder of the NiOxH layer, thus revealing important insight into the transient states of the catalyst during oxygen evolution.
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye
Authors: Evers Christina , Seitz Angelika , Assmann Birgit , Opladen Thomas , Karch Stephanie , Hinderhofer Katrin , Granzow Martin , Paramasivam Nagarajan , Eils Roland , Diessl Nicolle , Bartram Claus R. , Moog Ute
Published: May 2017

Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein‐Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive‐compulsive behavior. The “eye‐of‐the tiger‐sign,” a characteristic hypointense spot within the hyperintense globi pallidi on MRI found in the most common subtype of NBIA (Pantothenate Kinase‐Associated Neurodegeneration, PKAN), was not present. Instead, bilateral hyperintensity and swelling of caudate nucleus, putamen, and thalamus were found. In addition, our patients showed a small corpus callosum and frontotemporal and parietal white matter changes, expanding the brain phenotype of patients with CoPAN. Metabolic investigations showed increased free carnitine and decreased acylcarnitines in the patientś dried blood samples. Carnitine palmitoyl transferase 1 (CPT1) deficiency was excluded by further enzymatic and metabolic investigations. As CoA and its derivate Acetyl‐CoA play an essential role in fatty acid metabolism, we assume that abnormal acylcarnitine profiles are a result of the COASY mutations. This report not only illustrates that WES is a powerful tool to elucidate the etiology of rare genetic diseases, but also identifies unique neuroimaging and metabolic findings that may be key features for an early diagnosis of CoPAN.
A comparison of the functional health of children with Costello syndrome in 1999 and in 2015
Authors: Bompadre Viviana , Mattioli‐Lewis Tressa , Yassir Walid K. , Goldberg Michael J.
Published: May 2017

Costello Syndrome is a rare congenital condition characterized by failure‐to‐thrive, cardiac abnormalities, distinctive facial features, predisposition to malignant tumors, and developmental delay. In 1999, we analyzed the functional health in a cohort of 18 patients. Since then, a mutation in the HRAS gene has been found to be causative, medical management has been refined, and the level of awareness has increased. The purpose of this study is to compare the functional health outcomes from the 1999 cohort with data prospectively collected from a comparable cohort in 2015. The Pediatric Outcome Data Collection Instrument (PODCI) was administered to parents of children with Costello syndrome during the 2015 International Costello Syndrome Conference. The same instrument and setting were used in the 1999 study. We compared functional health scores from the two groups. A total of 21 participants were included in the 2015 cohort; 15 females (71%) and 6 males (29%). Average age was 5.8 years (range 2–16). When comparing functional health outcomes, we found that the 2015 cohort scored slightly higher in Upper Extremity and Physical Function (57 vs. 54) and Comfort scales (86 vs. 82). However, there was no significant difference in any of the PODCI scales between the two groups. When compared with normative scores, both groups scored significantly lower in every scale except for happiness (p = 0.2952). Despite recent advancements, functional health outcomes in 2015 were similar to those measured in a different cohort in 1999.
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome
Authors: Alesi Viola , Dentici Maria L. , Restaldi Fabrizia , Orlando Valeria , Liambo Maria T. , Calacci Chiara , Capolino Rossella , Digilio Maria C. , El Hachem May , Novelli Antonio , Diociaiuti Andrea , Dallapiccola Bruno
Published: May 2017

Pallister–Killian syndrome (PKS‐#OMIM601803) is a multisystem developmental disorder typically due to the presence of an aneuploidy cell line, consisting of a supernumerary tetrasomic chromosomal marker (SCM) arisen from the short arm of chromosome 12 (12p isochromosome). The clinical phenotype, which is strictly related to the percentage and tissue distribution of aneuploid cells, is characterized by craniofacial dysmorphisms, pigmentary skin anomalies, limb shortening, congenital heart defects, diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy. We report on a 4 year‐old girl harboring a 12p partial isochromosome, involving the PKS critical region, affecting about 70% of circulating lymphocytes, urine, and saliva cells and fibroblast from a hyperpigmented skin spot, and 100% of fibroblasts from a hypopigmented skin spot. Interestingly, despite the high proportion of affected cells this patient did not present with PKS, and a pattern of linear and patchy pigmentary mosaicism was the sole clinical manifestation. The present observation suggests that partial 12p SCM can also result in mild phenotypes, and its prevalence in the human population could have been underestimated. Accurate dermatologic evaluation could be a major handle for genetic testing.
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature
Authors: Hayashi Anri , Kumada Tomohiro , Nozaki Fumihito , Hiejima Ikuko , Shibata Minoru , Kusunoki Takashi , Fujii Tatsuya
Published: May 2017

Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life‐threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. About 80% of patients with trisomy 13 have a congenital cardiac abnormality, but a clinical description of LVNC with trisomy 13 is lacking because of its poor prognosis and lack of awareness about LVNC. We described a patient with trisomy 13 who was diagnosed with LVNC‐dilated phenotype and died suddenly, as well as two additional patients with LVNC. All three patients had chronic heart failure without congenital heart disease and were treated with diuretics. To manage trisomy 13 with or without congenital heart disease, cardiac disease such as LVNC may present at any ages, and therefore cardiac evaluation should be considered as a part of their appropriate management.
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation
Authors: Choucair Nancy , Rajab Mariam , Mégarbané André , Chouery Eliane
Published: May 2017

A male child, born from consanguineous parents and having intellectual disability, short stature, dysmorphic facial features, synpolydactyly, and cardiac malformations is reported. Chromosomal microarray analysis showed that the patient presents with an 8p23.1 homozygous deletion, containing the microRNA miR‐4660, the exoribonuclease 1 (ERI1), and malignant fibrous histiocytoma amplified sequence 1 (MFHAS1) genes. The microRNA miR‐4660 has no known function. MFHAS1 is an immunomodulatory protein involved in Toll‐like receptor signaling, erythropoiesis, and cancer. ERI1 is a ribonuclease involved in RNA metabolism and is required for the correct patterning of the skeleton by defining the HOXC8 expression. We discuss the involvement of these deleted genes to the patient's features and highlight differential diagnoses with syndromes implicating limb extremity abnormalities such as synpolydactyly, including the monosomy 8p.
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34‐q36.3 heterozygous terminal deletion
Authors: Jackson Carolyn C. , Lefèvre‐Utile Alain , Guimier Anne , Malan Valérie , Bruneau Julie , Gessain Antoine , Cassar Olivier , Amiel Jeanne , Cobat Aurélie , Rattina Vimel , Abel Laurent , Casanova Jean‐Laurent , Blanche Stéphane
Published: May 2017

Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34‐q36.3 in a 16‐year‐old girl originally from West Indies. Similar to previously reported cases of germline chromosome 7q terminal deletions, our patient has dental malposition, and developmental (growth and intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma (KS), furrowed tongue, thoracolumbar scoliosis, and mild mitral valve dysplasia. The occurrence of human herpes virus 8‐driven KS, in a child otherwise normally resistant to other infectious agents and without any other tumoral lesion, points to a very selective immunodeficiency. While defects in organogenesis have been described with such macrodeletions, this is the first report of immunodeficiency and cancer predisposition.
Biocatalytic Self‐Assembly Cascades
Authors: Sahoo Jugal Kishore , Pappas Charalampos G. , Sasselli Ivan Ramos , Abul‐Haija Yousef M. , Ulijn Rein V.
Published: May 2017

The properties of supramolecular materials are dictated by both kinetic and thermodynamic aspects, providing opportunities to dynamically regulate morphology and function. Herein, we demonstrate time‐dependent regulation of supramolecular self‐assembly by connected, kinetically competing enzymatic reactions. Starting from Fmoc‐tyrosine phosphate and phenylalanine amide in the presence of an amidase and phosphatase, four distinct self‐assembling molecules may be formed which each give rise to distinct morphologies (spheres, fibers, tubes/tapes and sheets). By varying the sequence or ratio in which the enzymes are added to mixtures of precursors, these structures can be (transiently) accessed and interconverted. The approach provides insights into dynamic self‐assembly using competing pathways that may aid the design of soft nanostructures with tunable dynamic properties and life times.
C−N Bond Activation and Ring Opening of a Saturated N‐Heterocyclic Carbene by Lateral Alkali‐Metal‐Mediated Metalation
Authors: Hernán‐Gómez Alberto , Kennedy Alan R. , Hevia Eva
Published: May 2017

Combining alkali‐metal‐mediated metalation (AMMM) and N‐heterocyclic carbene (NHC) chemistry, a novel C−N bond activation and ring‐opening process is described for these increasingly important NHC molecules, which are generally considered robust ancillary ligands. Here, mechanistic investigations on reactions of saturated NHC SIMes (SIMes=[:C{N(2,4,6‐Me3C6H2)CH2}2]) with Group 1 alkyl bases suggest this destructive process is triggered by lateral metalation of the carbene. Exploiting co‐complexation and trans‐metal‐trapping strategies with lower polarity organometallic reagents (Mg(CH2SiMe3)2 and Al(TMP)iBu2), key intermediates in this process have been isolated and structurally defined.
Kooperative Licht‐aktivierte Iod‐ und Photoredox‐Katalyse zur Aminierung von C‐H‐Bindungen
Authors: Becker Peter , Duhamel Thomas , Stein Christopher J. , Reiher Markus , Muñiz Kilian
Published: May 2017

Ein neuartiges Verfahren zum kooperativen Zusammenspiel eines molekularen Iod‐ und eines Photoredox‐Katalysators in einer dualen photo‐induzierten intramolekularen benzylischen C‐H‐Aminierung wird beschrieben. In dieser Reaktion agiert Iod als Katalysator zur Bildung einer neuen C‐N‐Bindung unter photochemischer Aktivierung einer C
‐H‐Bindung (1,5‐HAT‐Prozess), während der organische Photoredox‐Katalysator TPT auf effiziente Weise den molekularen Iod‐Katalysator reoxidiert. Die Vereinbarkeit der beiden photochemischen Reaktionsschritte wurde mithilfe computerchemischer Berechnungen des Schlüsselschritts – der Aktivierung der N‐I‐Bindung – untersucht. Diese neuartige kooperative Katalyse bietet wichtige Anhaltspunkte für die Kombination von nicht‐metallischen Hauptgruppenkatalysatoren mit Photoredox‐Katalyse.
The EPR Spectrum of Triplet Mesitylphosphinidene: Reassignment and New Assignment
Authors: Akimov Alexander V. , Ganushevich Yulia S. , Korchagin Denis V. , Miluykov Vasili A. , Misochko Eugenii Y.
Published: May 2017

Low‐temperature UV‐photolysis of mesitylphosphiranes under highly anaerobic conditions leads to the formation of the triplet mesitylphosphinidene (MesP). The recorded X‐band EPR spectrum of triplet MesP and the derived zero‐field splitting parameter D=4.116 cm−1 differ significantly from those reported previously for this intermediate. New magnetic parameters of mesitylphosphinidene are discussed along with the results of DFT calculations.
Poly(Ionic Liquid)‐Derived Carbon with Site‐Specific N‐Doping and Biphasic Heterojunction for Enhanced CO2 Capture and Sensing
Authors: Gong Jiang , Antonietti Markus , Yuan Jiayin
Published: May 2017

CO2 capture is a pressing global environmental issue that drives scientists to develop creative strategies for tackling this challenge. The concept in this contribution is to produce site‐specific nitrogen doping in microporous carbon fibers. Following this approach a carbon/carbon heterojunction is created by using a poly(ionic liquid) (PIL) as a “soft” activation agent that deposits nitrogen species exclusively on the surface of commercial microporous carbon fibers. This type of carbon‐based biphasic heterojunction amplifies the interaction between carbon fiber and CO2 molecule for unusually high CO2 uptake and resistive sensing.
Redox‐Sensitive Stomatocyte Nanomotors: Destruction and Drug Release in the Presence of Glutathione
Authors: Tu Yingfeng , Peng Fei , White Paul B. , Wilson Daniela A.
Published: May 2017

The development of artificial nanomotor systems that are stimuli‐responsive is still posing many challenges. Herein, we demonstrate the self‐assembly of a redox‐responsive stomatocyte nanomotor system, which can be used for triggered drug release under biological reducing conditions. The redox sensitivity was introduced by incorporating a disulfide bridge between the hydrophilic poly(ethylene glycol) block and the hydrophobic polystyrene block. When incubated with the endogenous reducing agent glutathione at a concentration comparable to that within cells, the external PEG shells of these stimuli‐responsive nanomotors are cleaved. The specific bowl‐shaped stomatocytes aggregate after the treatment with glutathione, leading to the loss of motion and triggered drug release. These novel redox‐responsive nanomotors can not only be used for remote transport but also for drug delivery, which is promising for future biomedical applications.
Janus Copper Mesh Film with Unidirectional Water Transportation Ability toward High Efficiency Oil/Water Separation
Authors: Cheng Zhongjun , Wang Bohan , Lai Hua , Liu Pengchang , Zhang Dongjie , Tian Da , Liu Hongwei , Yu Xiaoyan , Sun Bo , Sun Kening
Published: May 2017

Inspired by the special asymmetric wettability and controllable permeation function of cell membranes, we report a Janus nanostructured copper mesh film with unidirectional water transportation ability. Water can permeate from the hydrophobic side to the hydrophilic side, but is retained in the opposite direction. Notably, based on this special unidirectional water permeation property, both heavy oil/water mixtures (ρoil>ρwater) and light oil/water mixtures (ρoil<ρwater) can be separated. Additionally, the film demonstrates high separation efficiency and good recyclability. This paper reports a new Janus film that achieved highly efficient oil/water separation based on smart control of the wettability of the film. It is believed to have the potential to be used in many practical applications, such as wastewater treatment and oil‐spill cleanup.
EngineeredHumicola insolenscutinase for efficient cellulose acetate deacetylation
Authors: Shirke Abhijit N. , Butterfoss Glenn L. , Saikia Rakhi , Basu Aditya , de Maria Leonardo , Svendsen Allan , Gross Richard A.
Published: May 2017

Cutinases comprise a family of esterases with broad hydrolytic activity for chain and pendant ester groups. This work aimed to identify and improve an efficient cutinase for cellulose acetate (CA) deacetylation. The development of a mild method for CA fiber surface deacetylation will result in improved surface hydrophilicity and reactivity while, when combined with cellulases, a route to the full recycling of CA to acetate and glucose. In this study, the comparative CA deacetylation activity of four homologous wild‐type (wt) fungal cutinases fromAspergillus oryzae(AoC),Thiellavia terrestris(TtC),Fusarium solani(FsC), andHumicola insolens(HiC) was determined by analysis of CA deacetylation kinetics. wt‐HiC had the highest catalytic efficiency (≈32 [cm2L‐1]‐1h‐1). Comparison of wt‐cutinase catalytic constants revealed that differences in catalytic efficiency are primarily due to corresponding variations in corresponding substrate binding constants. Docking studies with model tetrameric substrates also revealed structural origins for differential substrate binding amongst these cutinases. Comparative docking studies of HiC point mutations led to the identification of two important rationales for engineering cutinases for CA deacetylation: (i) create a tight but not too closed binding groove, (ii) allow for hydrogen bonding in the extended region around the active site. Rationally designed HiC with amino acid substitutions I36S, predicted to hydrogen bond to CA, combined with F70A, predicted to remove steric constraints, showed a two‐fold improvement in catalytic efficiency. Continued cutinase optimization guided by a detailed understanding of structure‐activity relationships, as demonstrated here, will be an important tool to developing practical cutinases for commercial green chemistry technologies.
Simulation of thin liquid jets with threads
Authors: Baek Seungho , Han JungHyun
Published: May 2017

In a thin liquid jet from faucet, shower, fountain, etc., the initially smooth jet surface is gradually perturbed with time to eventually produce droplets. This paper proposes to model such a liquid jet with a thread. It is defined as a series of nodes and an edge connecting a pair of nodes is filled with volume particles. The jet's large‐scale behavior is simulated by moving a relatively small number of nodes whereas the small‐scale detail is described using the volume particles. The proposed method is capable of handling a large number of jets and describing the special effects, such as liquid chain and fishbone, produced by impinging jets. Furthermore, the proposed method can be neatly integrated into existing fluid simulation systems at a small cost.
Essential Oil Variability in Natural Populations of Artemisia campestris (L.) and Artemisia herba‐alba (Asso) and Incidence on Antiacetylcholinesterase and Antioxidant Activities
Authors: Younsi Faten , Mehdi Sameh , Aissi Oumayma , Rahali Najoua , Jaouadi Rym , Boussaid Mohamed , Messaoud Chokri
Published: May 2017

The intraspecific variability of Artemisia herba‐alba and A. campestris essential oils and the evaluation of their antioxidant and antiacetylcholinesterase activities were determined. Artemisia herba‐alba essential oil was found rich in camphor (19.61%), α‐thujone (19.40%), β‐thujone (9.44%), chrysanthenone (9.26%), and trans‐sabinyl acetate (8.43%). The major compounds of A. campestris essential oil were germacrene D (16.38%), β‐pinene (16.33%), and limonene (9.17%). Significant variation in the essential oil composition was observed among populations of each species. The divergence between populations was attributed to the variation of some climatic factors such as altitude, annual rainfall, winter cold stress, summer precipitation, summer drought stress, evapotranspiration, and humidity.

Artemisia herba‐alba and A. campestris essential oils exhibited promising antioxidant and antiacetylcholinesterase activities. The level of activity varied significantly according to the species and the essential oil. The highest scavenging activity (IC50 = 0.14 mg/ml) and the uppermost capacity to prevent β‐carotene bleaching (IC50 = 0.10 mg/ml) characterized A. campestris from population 6. A. campestris population 3 possessed the uppermost ability to reduce ferric ions (450.7 μmol Fe2+/g EO). The population 2 of A. campestris showed the strongest antiacetylcholinesterase activity (IC50 = 0.02 mg/ml). The variation of these activities between the essential oils was explained by their composition differences.
Melanogenesis‐Inhibitory and Antioxidant Activities of Phenolics from Periploca forrestii
Authors: Sun Cai‐Ling , Chen Lei , Xu Jian , Qu Wei , Guan Li , Liu Wen‐Yuan , Akihisa Toshihiro , Feng Feng , Zhang Jie
Published: May 2017

Two new tetrahydrofuran‐type lignans, (−)‐gentioluteol 9‐O‐β‐d‐glucopyranoside (1), (−)‐berchemol 9‐O‐β‐d‐apiofuranosyl‐(1→6)‐O‐β‐d‐glucopyranoside (2), along with sixteen known compounds 3 – 18 were isolated from the 95% EtOH extract of the stems of Periploca forrestii. The structures of the new tetrahydrofuran‐type lignans were determined by HR‐ESI‐MS and various NMR techniques in combination with CD method. Then, their antioxidant abilities were evaluated by 1,1‐diphenyl‐2‐picrylhydrazyl (DPPH), 2,2′‐azinobis(3‐ethylbenzothiazoline‐6‐sulfonic acid) (ABTS) radical scavenging activity, and ferric‐reducing antioxidant power (FRAP) assays. Meanwhile, a similar trend was obtained in tripartite antioxidant assays, which compounds 7 – 9 and 11 exhibited potent abilities. Subsequently, the evaluation of all compounds against the α‐melanocyte‐stimulating hormone (α‐MSH) induced melanogenesis on the B16F10 cell line, compounds 5 – 11, 15, and 16 exhibited inhibitory effects with no or weak toxicity at low concentration. Of these, compound 8 exhibited the strongest inhibition melanogenesis ability. Furthermore, Western blot analysis suggested that compound 8 could inhibit melanogenesis by suppressing the protein expression of microphthalmia‐associated transcription factor (MITF) and tyrosinase.
Highly Selective Stable Isotope Labeling of Histidine Residues by Using a Novel Precursor in E. coli‐Based Overexpression Systems
Authors: Schörghuber Julia , Geist Leonhard , Platzer Gerald , Konrat Robert , Lichtenecker Roman J.
Published: May 2017

The importance of NMR spectroscopy in unraveling the structural and dynamic properties of proteins is ever‐expanding owing to progress in experimental techniques, hardware development, and novel labeling approaches. Multiple sophisticated methods of aliphatic residue labeling can be found in the literature, whereas the selective incorporation of NMR active isotopes into other amino acids still holds the potential for improvement. In order to close this methodological gap, we present a novel metabolic precursor for cell‐based protein overexpression to assemble 13C/2H isotope patterns in the peptide backbone, as well as in side chain positions of a mechanistically distinguished histidine residue.