bluuebunny/crossref_metadata_2025_split huggingface dataset:
Nematic Liquid Crystals Embedded in Cubic Microlattices: Memory Effects and Bistable Pixels
Authors: Serra Francesca , Eaton Shane Michael , Cerbino Roberto , Buscaglia Marco , Cerullo Giulio , Osellame Roberto , Bellini Tommaso 
Published: March 2013

AbstractThe confinement of liquid crystals in geometries with frustrating boundary conditions gives rise to nontrivial effects such as bistability and memory. It is shown that large memory effects arise when nematic liquid crystals are embedded in cubic micrometer‐sized scaffolds made by two‐photon polymerization. The electric field alignment of the liquid crystals inside the porous medium is maintained when the applied field is above a threshold (approximately 2 V per micrometer of cell thickness). The onset of the memory is an on/off type process for each individual pore of the scaffold, and the memory typically starts emerging in one region of the structure and then propagates. The global memory effects in porous structures with controlled geometry are enhanced with respect to the case of random porous structures. This work is a proof of the “memory from topology” principle, which was previously suggested by computer simulations. These new materials can pave the way to new types of bistable displays.
Creation of Ghost Illusions Using Wave Dynamics in Metamaterials
Authors: Jiang Wei Xiang , Qiu Cheng‐Wei , Han Tiancheng , Zhang Shuang , Cui Tie Jun 
Published: March 2013

AbstractThe creation of wave‐dynamic illusion functionality is of great interest to various scientific communities because it can potentially transform an actual perception into the pre‐controlled perception, thus empowering unprecedented applications in the advanced‐material science, camouflage, cloaking, optical and/or microwave cognition, and defense security. By using the space transformation theory and engineering capability of metamaterials, a functional “ghost” illusion device, which is capable of creating multiple virtual ghost images of the original object's position under the illumination of electromagnetic waves, is proposed and realized. The scattering signature of the object is thus ghosted and perceived as multiple ghost targets with different geometries and compositions. The ghost‐illusion material, which is being inhomogeneous and anisotropic, is realized using thousands of varying unit cells working at non‐resonance. The experimental demonstration of the ghost illusion validates the theory of scattering metamorphosis and opens a novel avenue to the wave‐dynamic illusion, cognitive deception, manipulate strange light (or matter) behaviors, and design novel optical and microwave devices.
An Electrochemically Actuated MEMS Device for Individualized Drug Delivery: an In Vitro Study
Authors: Song Peiyi , Tng Danny Jian Hang , Hu Rui , Lin Guimiao , Meng Ellis , Yong Ken‐Tye 
Published: March 2013

AbstractIndividualized disease treatment is a promising branch for future medicine. In this work, we introduce an implantable microelectromechanical system (MEMS) based drug delivery device for programmable drug delivery. An in vitro study on cancer cell treatment has been conducted to demonstrate a proof‐of‐concept that the engineered device is suitable for individualized disease treatment. This is the first study to demonstrate that MEMS drug delivery devices can influence the outcome of cancer drug treatment through the use of individualized disease treatment regimes, where the strategy for drug dosages is tailored according to different individuals. The presented device is electrochemically actuated through a diaphragm membrane and made of polydimethylsiloxane (PDMS) for biocompatibility using simple and cost‐effective microfabrication techniques. Individualized disease treatment was investigated using the in vitro programmed delivery of a chemotherapy drug, doxorubicin, to pancreatic cancer cell cultures. Cultured cell colonies of two pancreatic cancer cell lines (Panc‐1 and MiaPaCa‐2) were treated with three programmed schedules and monitored for 7 days. The result shows that the colony growth has been successfully inhibited for both cell lines among all the three treatment schedules. Also, the different observations between the two cell lines under different schedules reveal that MiaPaCa‐2 cells are more sensitive to the drug applied. These results demonstrate that further development on the device will provide a promising novel platform for individualized disease treatment in future medicine as well as for automatic in vitro assays in drug development industry.
A Light‐Driven Anti‐Cancer Dual‐Therapeutic Cassette Enhances Solid Tumour Regression
Authors: Kim A Ra , Shin Seung Won , Cho Seung‐Woo , Lee Joo Young , Kim Dong‐Ik , Um Soong Ho 
Published: March 2013

AbstractThe majority of anticancer therapeutics have failed to control the target cancers. Thus, new rational design concepts are critical. In most of the biological reactions, a cascade pathway is used to activate appropriate responses. In the cascade pathway, a small signal derived from neighboring environments can be amplified and it further triggers overwhelming and specialized responses. It can be applied to achieve powerful therapeutic effects for novel drug design strategies. Inspired by this concept, we design a preferential dual anti‐cancer therapeutic cassette composed of (i) DNA/RNA nanostructures as both anticancer containers and target ligands and (ii) a gold nanocrystal as localized heat inducers. We demonstrate that this multi‐modular platform is superior to conventional cancer medications in that it had higher drug loading efficiency, tunable drug release, and intrinsic serum stability characteristics. Both doxorubicin chemotherapy and thermal ablation exert a powerful synergistic killing effect that resulted in prostate cancer regression both in vitro and in vivo. We speculate that our novel anti‐cancer drug system can be adapted to effectively destroy many different types of solid cancers.
Enhanced Osteogenesis by a Biomimic Pseudo‐Periosteum‐Involved Tissue Engineering Strategy
Authors: Shi Xuetao , Chen Song , Zhao Yihua , Lai Chen , Wu Hongkai 
Published: March 2013

AbstractElaborating a bone replacement using tissue‐engineering strategies for bone repair seems to be a promising remedy. However, previous platforms are limited in constructing three‐dimensional porous scaffolds and neglected the critical importance of periosteum (a pivotal source of osteogenic cells for bone regeneration). We report here an innovative method using the periosteum as a template to replicate its exquisite morphologies onto the surfaces of biomaterials. The precise topographic cues (grooved micropatterns) on the surface of collagen membrane inherited from the periosteum effectively directed cell alignment as the way of natural periosteum. Besides, we placed the stem‐cell and endothelial‐cell‐laden collagen membrane (pseudo‐periosteum) onto a three‐dimensional porous scaffold. The pseudo‐periosteum‐covered scaffolds showed remarkable osteogenesis when compared with the pseudo‐periosteum‐free scaffolds, indicating the significant importance of pseudo‐periosteum on bone regeneration. This study gives a novel concept for the construction of bone tissue engineering scaffold and may provide new insight for periosteum research.
Prospects and Challenges of Graphene in Biomedical Applications
Authors: Bitounis Dimitrios , Ali‐Boucetta Hanene , Hong Byung Hee , Min Dal‐Hee , Kostarelos Kostas 
Published: March 2013

AbstractGraphene materials have entered a phase of maturity in their development that is characterized by their explorative utilization in various types of applications and fields from electronics to biomedicine. Herein, we describe the recent advances made with graphene‐related materials in the biomedical field and the challenges facing these exciting new tools both in terms of biological activity and toxicological profiling in vitro and in vivo. Graphene materials today have mainly been explored as components of biosensors and for construction of matrices in tissue engineering. Their antimicrobial activity and their capacity to act as drug delivery platforms have also been reported, however, not as coherently. This report will attempt to offer some perspective as to which areas of biomedical applications can expect graphene‐related materials to constitute a tool offering improved functionality and previously unavailable options.
Evaluation of Ion‐Exchange Kinetic Parameters Using Poly‐o‐anisidine and Poly‐o‐toluidine Sn(IV) Tungstate Nanocomposite Cation Exchangers
Authors: Khan Asif Ali , Shaheen Shakeeba 
Published: March 2013

ABSTRACTOrganic–inorganic nanocomposites poly‐o‐anisidine and poly‐o‐toluidine Sn(IV) tungstate were chemically synthesized by mixing organic polymers that is, o‐anisidine and o‐toluidine with inorganic gels of Sn(IV) tungstate in different mixing ratios. Ion‐exchange kinetics for few divalent metal ions was evaluated by particle diffusion‐controlled ion‐exchange phenomenon at four different temperatures. The particle diffusion mechanism was confirmed by linear τ (dimensionless time parameter) versus t (time) plots. The exchange processes were controlled by the diffusion of ions within the exchanger particle for the systems under studies. Some physical parameters such as self‐diffusion coefficient (), energy of activation (Ea), and entropy of activation (ΔS°) were evaluated under conditions favoring a particle diffusion‐controlled mechanism. © 2013 Wiley Periodicals, Inc. Adv Polym Technol 2013, 32, 21346; View this article online at wileyonlinelibrary.com. DOI 10.1002/adv.21346
Investigation of Driving Forces for Charge Extraction in Organic Solar Cells: Transient Photocurrent Measurements on Solar Cells Showing S‐Shaped Current–Voltage Characteristics
Authors: Tress Wolfgang , Corvers Steef , Leo Karl , Riede Moritz 
Published: March 2013

AbstractThe role of drift and diffusion as driving forces for charge carrier extraction in flat heterojunction organic solar cells is examined at the example of devices showing intentional S‐shaped current–voltage (J‐V) characteristics. Since these kinks are related to energy barriers causing a redistribution of the electric field and charge carrier density gradients, they are suitable for studying the limits of charge extraction. The dynamics of this redistribution process are experimentally monitored via transient photocurrents, where the current response on square pulses of light is measured in the μs to ms regime. In combination with drift‐diffusion simulation data, we demonstrate a pile‐up of charge carriers at extraction barriers and a high contribution of diffusion to photocurrent in the case of injection barriers. Both types of barrier lead to S‐kinks in the J‐V curve and can be distinguished from each other and from other reasons for S‐kinks (e.g. imbalanced mobilities) by applying the presented approach. Furthermore, it is also helpful to investigate the driving forces for charge extraction in devices without S‐shaped J‐V curve close to open circuit to evaluate whether their electrodes are optimized.
GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer
Authors: Bozkurt Banu , Yıldırım Mahmut Selman , Okka Mehmet , Bitirgen Gülfidan 
Published: March 2013

AbstractThis article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end‐stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. © 2013 Wiley Periodicals, Inc.
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome
Authors: Khalifa Mohamed , Stein Jennifer , Grau Lance , Nelson Valery , Meck Jeanne , Aradhya Swaroop , Duby John 
Published: March 2013

AbstractKBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, intellectual disability, skeletal, and neurologic involvement. Approximately 60 patients have been reported since it was first described in 1975. Recently mutations in ANKRD11 have been documented in patients with KBG syndrome, and it has been proposed that haploinsufficiency of ANKRD11 is the cause of this syndrome. In addition, copy number variation in the 16q24.3 region that includes ANKRD11 results in a variable phenotype that overlaps with KBG syndrome and also includes autism spectrum disorders and other dysmorphic facial features. In this report we present a 2½‐year‐old African American male with features highly suggestive of KBG syndrome. Genomic microarray identified an intragenic 154 kb deletion at 16q24.3 within ANKRD11. This child's mother was mosaic for the same deletion (present in approximately 38% of cells) and exhibited a milder phenotype including macrodontia, short stature and brachydactyly. This family provides additional evidence that ANKRD11 causes KBG syndrome, and the mild phenotype in the mosaic form suggests that KBG phenotypes might be dose dependent, differentiating it from the more variable 16q24.3 microdeletion syndrome. This family has additional features that might expand the phenotype of KBG syndrome. © 2013 Wiley Periodicals, Inc.
Epilepsy in children with trisomy 18
Authors: Kumada Tomohiro , Maihara Toshiro , Higuchi Yoshihisa , Nishida Yoshinobu , Taniguchi Yoshihiro , Fujii Tatsuya 
Published: March 2013

AbstractAlthough the reported incidence of epilepsy associated with trisomy 18 is 25–50%, there have been no detailed descriptions of the characteristics of trisomy 18‐related epilepsy. We investigated the characteristics of epilepsy in children with trisomy 18 who remained alive for over 1 year by sending questionnaires to pediatric neurologists belonging to the Kyoto Multi‐institutional Study Group of Pediatric Neurology. Eleven patients with trisomy 18 were enrolled (age at the study, from 15 to 134 months; median, 43 months), of whom seven (64%) had epilepsy. The age at seizure onset ranged from 1 to 42 months (median: 11 months). Among the seven patients with epilepsy, two had focal epilepsy, four had generalized epilepsy including infantile spasms in three, and the remaining one had an unclassified type. Seizure seminology included complex partial seizures in both the patients with focal epilepsy. At the time of the investigation, three children with generalized epilepsy still had daily seizures, while the remaining four were seizure‐free. In conclusion, the characteristics of epilepsy in patients with trisomy 18 were as follows: over half of the children developed epilepsy during infancy or early childhood; infantile spasms might be one of the common epileptic syndromes; the epilepsy was intractable in half of the children, especially in those with generalized epilepsy. © 2013 Wiley Periodicals, Inc.
Artery tortuosity syndrome exhibiting early‐onset emphysema with novel compound heterozygous SLC2A10 mutations
Authors: Takahashi Yoshiko , Fujii Katsunori , Yoshida Akiko , Morisaki Hiroko , Kohno Yoichi , Morisaki Takayuki 
Published: March 2013

AbstractWe report on a 2‐year‐old Japanese boy with early‐onset pulmonary emphysema, exhibiting dysmorphic face, loose skin, and inguinal and Morgagni hernias. He was admitted to our hospital owing to refractory respiratory infection. On the basis of his clinical features, we investigated the SLC2A10 gene and identified novel compound heterozygous mutations of c.417T > A and c.692G > A, leading to the diagnosis of artery tortuosity syndrome (ATS). This syndrome is an extremely rare autosomal recessive disorder characterized by tortuosity and elongation of the large and medium‐sized arteries, hyperextensible skin, and diverse hernias, mostly reported from Europe and Middle Eastern countries, but not from Asia. Although chronic obstructive pulmonary disease, namely, emphysema, has not been well documented in ATS, it may be likely because TGF‐beta up‐regulation is known to be evoked by SLC2A10 mutations, resulting in reconstruction of pulmonary endothelial cells and emphysema. This is the first report of ATS associated with early‐onset pulmonary emphysema, suggesting that patients with ATS may also require close attention for chronic obstructive pulmonary disease. © 2013 Wiley Periodicals, Inc.
Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions
Authors: Mark Paul R. , Radlinski Brian C. , Core Nathalie , Fryer Alan , Kirk Edwin P. , Haldeman‐Englert Chad R. 
Published: March 2013

AbstractInterstitial deletions of 18q lead to a number of phenotypic features, including multiple types of foot deformities. Many of these associated phenotypes have had their critical regions narrowly defined. Here we report on three patients with small overlapping deletions of chromosome 18q determined by microarray analysis (chr18:72493281–73512553 hg19 coordinates). All of the patients have congenital vertical talus (CVT). Based on these findings and previous reports in the literature and databases, we narrow the critical region for CVT to a minimum of five genes (ZNF407, ZADH2, TSHZ1, C18orf62, and ZNF516), and propose that TSHZ1 is the likely causative gene for CVT in 18q deletion syndrome. © 2013 Wiley Periodicals, Inc.
Keratoconus in Costello Syndrome
Authors: Gripp Karen W. , Demmer Laurie A. 
Published: March 2013

AbstractKeratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with intellectual disability and syndromic conditions. Connective tissue abnormalities, most typically brittle cornea syndrome, have frequently been reported in association with keratoconus. Here, we report on bilateral keratoconus with acute hydrops in the left eye of a 24‐year‐old male with Costello syndrome. The patient was treated medically. After resolution of the hydrops, he had significant visual impairment from the resulting irregular astigmatism and scarring. This is the second report of keratoconus in Costello syndrome, suggesting an increased risk for this corneal dystrophy in individuals with Costello syndrome. Ongoing ophthalmological surveillance may be necessary for adult individuals with Costello syndrome, and apparent vision changes should be evaluated expediently. © 2013 Wiley Periodicals, Inc.
Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients
Authors: Busch Maike , Leube Barbara , Thiel Anne , Schanze Ina , Beier Manfred , Royer‐Pokora Brigitte 
Published: March 2013

AbstractNewborn sporadic aniridia patients with an 11p13 deletion including the WT1 gene have an increased risk to develop Wilms tumor. At present a risk for Wilms tumor cannot be estimated in patients with deletions not extending into, but ending close to WT1. Therefore, it is important to determine the distance of deletion endpoints from the WT1 gene and survey these patients for a longer follow‐up time to obtain a more defined risk estimation. Using molecular methods, such as Multiplex Ligation‐dependent Probe Amplification (MLPA), deletion endpoints can be mapped more accurately than with FISH. We describe here the analysis of six aniridia patients, in two of these the deletions extend close to the 3′ end of WT1. At the ages of 3.8 and 4 years they have not developed a Wilms tumor, suggesting a low tumor risk in such patients. In addition we have studied 24 non‐AN cases with a higher likelihood for WT1 alterations with MLPA and found no deletions. In conclusion newborns with aniridia should be studied with molecular methods that can determine deletion endpoints in 11p13 exactly. For a better Wilms tumor risk estimation cases with deletion endpoints close to WT1 should be followed for at least 4–5 years. Furthermore germ line intragenic deletions affecting WT1 in patients with a higher likelihood for a WT1 association, for example, bilateral tumors, genitourinary aberrations, or nephrotic syndrome, were not found in this study, suggesting that deletions are rare events. © 2013 Wiley Periodicals, Inc.
Reduces Bone Mass as in Human Apert Syndrome
Authors: Zhou Xia , Pu Dongquan , Liu Ri , Li Xiangjie , Wen Xiujie , Zhang Li , Chen Lin , Deng Manjing , Liu Luchuan 
Published: March 2013

AbstractApert syndrome is a common craniosynostosis caused by gain‐of‐function missense mutations of fibroblast growth factor receptor 2 (FGFR2). Mice with the FGFR2 S252W mutation can elucidate the mechanism by which the human Apert syndrome phenotypes arise. However, many studies have focused on mutant skull and long bone malformation, only few studies have focused on mandible changes. Bone formation and micro‐architecture between 28‐ and 56‐day‐old mutant mice and controls were compared to investigate the changes in the mandibular micro‐architecture caused by the Fgfr2S252W/+ mutation to provide a basis for exploring the pathogenesis and therapeutic measures of human Apert syndrome. Fgfr2S252W/+ mutant mice were established, and their general characteristics, including weight, naso‐anal length, and calcium and phosphate content in serum and bone were tested. Calcein labeling, tartrate‐resistant acid phosphatase staining and toluidine blue staining were used to detect osteoblast and osteoclast activities. H&E staining and micro‐CT detection were used to test micro‐architecture changes. The changes in mineral apposition rate and micro‐architecture of the Fgfr2S252W/+ mice were statistically significant; however, the magnitude of the micro‐architecture became less with age. The Fgfr2S252W/+ mutation may retard mandibular bone formation, decreased bone volume, and compromised skeletal architecture by regulating both osteoblastogenesis and osteoclastogenesis. © 2013 Wiley Periodicals, Inc.