bluuebunny/crossref_metadata_2025_split huggingface dataset:
A 3p interstitial deletion in two monozygotic twin brothers and an 18‐year‐old man: Further characterization and review
Authors: Maria Christina Schwaibold Eva , Zoll Barbara , Burfeind Peter , Hobbiebrunken Elke , Wilken Bernd , Funke Rudolf , Shoukier Moneef 
Published: August 2013

AbstractAn increasing number of patients with 3p proximal deletions were reported in the previous decade, but the region responsible for the main features such as intellectual disability (ID) and developmental delay is not yet characterized. Here we report on two monozygotic twin brothers of 2 10/12 years and an 18‐year‐old man, all three of them displaying severe ID, psychomotoric delay, autistic features, and only mild facial dysmorphisms. Array CGH (aCGH), revealed a 6.55 Mb de novo interstitial deletion of 3p14.1p14.3 in the twin brothers and a 4.76 Mb interstitial deletion of 3p14.1p14.2 in the 18‐year‐old patient, respectively. We compared the malformation spectrum with previous molecularly well‐defined patients in the literature and in the DECIPHER database (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; http://decipher.sanger.ac.uk/). In conclusion, the deletion of a region containing 3p14.2 seems to be associated with a relative concise phenotype including ID and developmental delay. Thus, we hypothesize that 3p14.2 is the potential core region in 3p proximal deletions. The knowledge of this potential core region could be helpful in the genetic counselling of patients with 3p proximal deletions, especially concerning their phenotype. © 2013 Wiley Periodicals, Inc.
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes
Authors: Calcia Alessandro , Gai Giorgia , Di Gregorio Eleonora , Talarico Flavia , Naretto Valeria G. , Migone Nicola , Pepe Ernesto , Grosso Enrico , Brusco Alfredo 
Published: August 2013

AbstractWe report on a newborn boy with a bilateral cleft of the primary palate, duplicated triphalangeal thumbs, and a patent foramen ovale. During childhood he had moderate developmental delay. Brain MRI at 4 years was normal. The concurrence of non‐syndromic clefts of the lip/palate (CL/P) and duplicated thumbs with triphalangeal component has, to our knowledge, not been reported so far. In our case, array‐CGH analysis documented two de novo deletions (∼1.2 Mb and ∼400 Kb) of the long arm of chromosome 4, containing four genes: platelet‐derived growth factor C (PDGFC), glycine receptor beta subunit (GLRB), glutamate receptor ionotropic AMPA2 (GRIA2), and F‐box protein 8 gene (FBXO8). PDGFC codes for a mesenchymal cell growth factor already known to be associated with clefts of the lip. Pdgfc−/− mice have skeletal anomalies, and facial schisis resembling human cleft/lip palate. GRIA2 codes for a ligand‐activated cation channel that mediates the fast component of postsynaptic excitatory currents in neurons, and may be linked to cognitive dysfunction. FBXO8, a gene of unknown function, is a member of the F‐box gene family, among which FBXW4, within the minimal duplicated region associated with human split‐hand/foot malformation type 3 (SHFM type 3). The presence of overlapping deletions in patients who do not share the same phenotype of our case suggests incomplete penetrance, and a possible effect of modifier genetic factors. © 2013 Wiley Periodicals, Inc.
Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3
Authors: Hackmann Karl , Stadler Anja , Schallner Jens , Franke Kathlen , Gerlach Eva‐Maria , Schrock Evelin , Rump Andreas , Fauth Christine , Tinschert Sigrid , Oexle Konrad 
Published: August 2013

AbstractWe report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10‐year‐old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy–Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3–4, feet 2–3), joint laxity, and short stature. The triplication resulted from the unusual combination of a terminal duplication at 17qter and a cryptic translocation of an extra copy of the same segment onto chromosome 10qter. The breakpoint at 17q25.3 was located within the FOXK2 gene. SNP chip analysis suggested that the rearrangement occurred during paternal meiosis involving both paternal chromosomes 17. © 2013 Wiley Periodicals, Inc.
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation
Authors: Bettinelli Audra L. , Mulder Theodorus J. , Funke Birgit H. , Lafferty Katherine A. , Longo Sherri A. , Niyazov Dmitriy M. 
Published: August 2013

ABSTRACTEbstein anomaly is a rare congenital heart defect that most often occurs sporadically within a kindred. Familial cases, although reported, are uncommon. At this time, the genetic etiology of Ebstein anomaly is not fully elucidated. Here, we describe clinical and molecular investigations of a rare case of familial Ebstein anomaly in association with a likely pathogenic mutation of the MYH7 gene. The severity of presentation varies, and Ebstein anomaly can be observed in association with such other heart defects as ventricular septal defect and left ventricular (LV) hypertrabeculation, as seen in our family of study. In our family of study, the 31‐year‐old father and four of his children have been diagnosed with Ebstein anomaly. Genetic testing revealed that the father was heterozygous for the Glu1220del variant detected in exon 27 of the MYH7 gene. The MYH7 gene encodes the β‐myosin heavy chain and is expressed in cardiac muscle. DNA sequencing of three of his affected children confirmed that they carried the same variant while the fourth affected child was not available for testing. This is the first report of familial Ebstein anomaly associated with the Glu1220del mutation of the MYH7 gene. The mutation segregates with disease in a family with autosomal dominant transmission of congenital heart defects including Ebstein anomaly and other associated cardiovascular defects including LV hypertrabeculation and ventricular septal defect. © 2013 Wiley Periodicals, Inc.
Electrode Reactions of Elemental (White) Phosphorus and Phosphane PH3
Authors: Yakhvarov Dmitry G. , Gorbachuk Elena V. , Sinyashin Oleg G. 
Published: August 2013

AbstractElectrochemical methods have become important from the viewpoint of the development and creation of new ecologically safe and resource‐saving chemical processes. The use of electrons as a “universal” and “inexhaustible” reagent for chemical reactions is the main advantage of electrochemical tools. Although electrochemical processes have been already successfully applied in the preparation of different classes of practically important chemical compounds, a very limited number of industrially applicable electrochemical processes that involve elemental (white) phosphorus is currently known, except for some examples of the electrochemical production of phosphane PH3. These are mainly associated with the investigation of bulk reactions of the electrochemically activated P4molecule and phosphorus intermediates derived therefrom; very limited attention has been paid to the electrode surface reactions as a key stage of the electrochemical process. In this Microreview we describe the electrode reactions of elemental (white) phosphorus and phosphane that accompany the electrochemical process of the preparation of some phosphorus compounds starting directly from P4. The important role of the nature of the electrode material, the reactivity of the formed phosphorus intermediates and the surface processes are discussed. Moreover, recently, we succeeded in discovering a new, previously unstable phosphorus compound, phosphane oxide H3PO, which can be easily produced using an electrochemical method by mild anodic oxidation of phosphane PH3electrochemically formed from P4. In this respect, some attention has been paid to the electrochemically induced processes of PH3oxidation that result in the selective formation of phosphane oxide, which is of high interest from the viewpoint of the investigation of its properties and reactivity.
Brain perfusion SPECT can differentiate clinical subtypes of Parkinson's diseases
Authors: Song In‐Uk , Chung Yong‐An , Huh Ryoong 
Published: August 2013

ABSTRACTThe clinical heterogeneity of Parkinson's disease (PD) is well recognized. It is possible to distinguish two main clinical subgroups, a tremor dominant PD (TP) and nontremor dominant PD (NTP). However studies compared the regional cerebral blood flow between subtypes of PD had rarely been performed yet, although the classification of subtypes was very important because of difference of disease progression and prognosis between subtypes of PD. We recruited 43 patients with PD (21 TP and 22 NTP). All patients with PD underwent brain perfusion SPECT and evaluated motor severity by using the Hoehn and Yahr stage and Part III of the unified Parkinson's disease rating scale (UPDRS). We also compared tremor and nontremor symptoms with motor phenotype scores between two subtypes of PD. Brain perfusion SPECT showed significant hypoperfusion in TP compared with NTP in the left occipital lobe and middle occipital gyrus, left frontal lobe and superior frontal gyrus, cerebellar hemisphere, left lentiform nucleus. On the other hand, brain perfusion SPECT of NTP compared with TP showed hypoperfusion in right parietal lobe and precuneus, left temporal lobe and inferior temporal gyrus, both frontal lobe and inferior frontal gyrus. The present study indicates that pathophysiology of TP compared to NTP has more closely association with neuronal circuits including cerebellar pathway, such as CTC circuit. Therefore, we cautiously assert that neuronal systems other than the nigrostriatal dopaminergic system are likely involved in the generation of tremor in PD. © 2013 Wiley Periodicals, Inc. Int J Imaging Syst Technol, 23, 222–226, 2013
Brain MRI denoizing and segmentation based on improved adaptive nonlocal means
Authors: Aksam Iftikhar Muhammad , Jalil Abdul , Rathore Saima , Ali Ahmad , Hussain Mutawarra 
Published: August 2013

ABSTRACTDenoizing of magnetic resonance (MR) brain images has been focus of numerous studies in the past. The performance of subsequent stages of image processing, in automated image analysis, is substantially improved by explicit consideration of noise. Nonlocal means (NLM) is a popular denoizing method which exploits usual redundancy present in an image to restore noise free image. It computes restored value of a pixel as weighted average of candidate pixels in a search window. In this article, we propose an improved version of the NLM algorithm which is modified in two ways. First, a robust threshold criterion is introduced, which helps selecting suitable pixels for participation in the restoration process. Second, the search window size is made adaptive using a window adaptation test based on the proposed threshold criterion. The modified NLM algorithm is named as improved adaptive nonlocal means (IANLM). An alternate implementation of IANLM is also proposed which exploits the image smoothness property to yield better denoizing performance. The computational burden is reduced significantly due to proposed modifications. Experiments are performed on simulated and real brain MR images at various noise levels. Results indicate that the proposed algorithm produces not only better denoizing results (quantitatively and qualitatively), but is also computationally more efficient. Moreover, the proposed technique is incorporated in an already proposed segmentation framework to check its validity in the practical scenario of segmentation. Improved segmentation results (quantitative and qualitative) verify the practical usefulness of the proposed algorithm in real world medical applications. © 2013 Wiley Periodicals, Inc. Int J Imaging Syst Technol, 23, 235–248, 2013
A new images segmentation method based on modified particle swarm optimization algorithm
Authors: Hamdaoui Fayçal , Ladgham Anis , Sakly Anis , Mtibaa Abdellatif 
Published: August 2013

ABSTRACTThe partitioning of an image into several constituent components is called image segmentation. Many approaches have been developed; one of them is the particle swarm optimization (PSO) algorithm, which is widely used. PSO algorithm is one of the most recent stochastic optimization strategies. In this article, a new efficient technique for the magnetic resonance imaging (MRI) brain images segmentation thematic based on PSO is proposed. The proposed algorithm presents an improved variant of PSO, which is particularly designed for optimal segmentation and it is called modified particle swarm optimization. The fitness function is used to evaluate all the particle swarm in order to arrange them in a descending order. The algorithm is evaluated by performance measures such as run time execution and the quality of the image after segmentation. The performance of the segmentation process is demonstrated by using a defined set of benchmark images and compared against conventional PSO, genetic algorithm, and PSO with Mahalanobis distance based segmentation methods. Then we applied our method on MRI brain image to determinate normal and pathological tissues. © 2013 Wiley Periodicals, Inc. Int J Imaging Syst Technol, 23, 265–271, 2013
Vertebral Size, Bone Density, and Strength in Men and Women Matched for Age and Areal Spine BMD
Authors: Bruno Alexander G , Broe Kerry E , Zhang Xiaochun , Samelson Elizabeth J , Meng Ching-An , Manoharan Rajaram , D'Agostino John , Cupples L Adrienne , Kiel Douglas P , Bouxsein Mary L 
Published: August 2013

ABSTRACT

To explore the possible mechanisms underlying sex-specific differences in skeletal fragility that may be obscured by two-dimensional areal bone mineral density (aBMD) measures, we compared quantitative computed tomography (QCT)-based vertebral bone measures among pairs of men and women from the Framingham Heart Study Multidetector Computed Tomography Study who were matched for age and spine aBMD. Measurements included vertebral body cross-sectional area (CSA, cm2), trabecular volumetric BMD (Tb.vBMD, g/cm3), integral volumetric BMD (Int.vBMD, g/cm3), estimated vertebral compressive loading and strength (Newtons) at L3, the factor-of-risk (load-to-strength ratio), and vertebral fracture prevalence. We identified 981 male-female pairs (1:1 matching) matched on age (± 1 year) and QCT-derived aBMD of L3 (± 1%), with an average age of 51 years (range 34 to 81 years). Matched for aBMD and age, men had 20% larger vertebral CSA, lower Int.vBMD (–8%) and Tb.vBMD (–9%), 10% greater vertebral compressive strength, 24% greater vertebral compressive loading, and 12% greater factor-of-risk than women (p &lt; 0.0001 for all), as well as higher prevalence of vertebral fracture. After adjusting for height and weight, the differences in CSA and volumetric bone mineral density (vBMD) between men and women were attenuated but remained significant, whereas compressive strength was no longer different. In conclusion, vertebral size, morphology, and density differ significantly between men and women matched for age and spine aBMD, suggesting that men and women attain the same aBMD by different mechanisms. These results provide novel information regarding sex-specific differences in mechanisms that underlie vertebral fragility. © 2014 American Society for Bone and Mineral Research.
Subcellular Elevation of Cytosolic Free Calcium Is Required for Osteoclast Migration
Authors: Wheal Benjamin D , Beach Ryan J , Tanabe Natsuko , Dixon S Jeffrey , Sims Stephen M 
Published: August 2013

ABSTRACT

Osteoclasts are multinucleated cells responsible for the resorption of bone and other mineralized tissues during development, physiological remodeling, and pathological bone loss. Osteoclasts have the ability to resorb substrate while concurrently migrating. However, the subcellular processes underlying migration are not well understood. It has been proposed that, in other cell types, cytosolic free Ca2+ concentration ([Ca2+]i) regulates cell protrusion as well as retraction. Integration of these distinct events would require precise spatiotemporal patterning of subcellular Ca2+. The large size of osteoclasts offers a unique opportunity to monitor patterns of Ca2+ during cell migration. We used ratiometric imaging to map [Ca2+]i within rat and mouse osteoclasts. Migration was characterized by lamellipodial outgrowth at the leading edge, along with intermittent retraction of the uropod. Migrating osteoclasts displayed elevation of [Ca2+]i in the uropod, that began prior to retraction. Dissipation of this [Ca2+]i gradient by loading osteoclasts with the Ca2+ chelator BAPTA abolished uropod retraction, on both glass and mineralized substrates. In contrast, elevation of [Ca2+]i using ionomycin initiated prompt uropod retraction. To investigate downstream effectors, we treated cells with calpain inhibitor-1, which impaired uropod retraction. In contrast, lamellipodial outgrowth at the leading edge of osteoclasts was unaffected by any of these interventions, indicating that the signals regulating outgrowth are distinct from those triggering retraction. The large size of mature, multinucleated osteoclasts allowed us to discern a novel spatiotemporal pattern of Ca2+ involved in cell migration. Whereas localized elevation of Ca2+ is necessary for uropod retraction, lamellipod outgrowth is independent of Ca2+—a heretofore unrecognized degree of specificity underlying the regulation of osteoclast migration. © 2014 American Society for Bone and Mineral Research.
Sonographic examination of the buttock
Authors: Lee Ryan Ka Lok , Griffith James F. , Ng Alex Wing Hung , Hung Eric Liu Kin 
Published: August 2013

ABSTRACTThe buttock is a common site of pathology and ultrasound and is often the first‐line imaging modality to examine soft tissue lesions of the buttock region. This review describes the ultrasound technique used, the relevant ultrasound anatomy, and the sonographic appearances of common and uncommon pathological conditions found in the buttock region. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 41:546–555, 2013.
Block copolymer technology applied to nanoelectronics
Authors: Tallegas Salomé , Baron Thierry , Gay Guillaume , Aggrafeil Claire , Salhi Billel , Chevolleau Thierry , Cunge Gilles , Bsiesy Ahmad , Tiron Raluca , Chevalier Xavier , Navarro Christophe , Aissou Karim , Otsuka Issei , Halila Sami , Fort Sébastien , Borsali Redouane 
Published: August 2013

AbstractFor the last ten years, the authors of this paper have been actively involved in studying the self‐assembly of block copolymers for their high potential in nano‐patterns fabrication. The aim of this paper is to give an overview of this important work by focusing on the main systems, process and results that have been obtained. In the first part of this paper, it will be shown that, a bi‐layer and tri‐layer strategies to transfer a diblock copolymer pattern into the subjacent substrate have been developed. As a result, a generic CMOS compatible lift‐off strategy for transferring a block copolymer template to a semiconductor substrate is demonstrated. An aluminum oxide (Al2O3) hard mask is selectively deposited by atomic layer deposition in an organized array of holes obtained in a polystyrene (PS) matrix via polystyrene‐b‐poly(methyl methacrylate) (PS‐b ‐PMMA) self‐assembled layer. The Al2O3 nanodots act as a highly resistant mask to plasma etching, and are used to pattern high aspect ratio (> 10) silicon nanowires and nanopillars. Then, we report a synoptic methodology to optimize the long‐range order induced by graphoepitaxy of block copolymer (BCP) self‐assembly. Pre‐patterned structures used in the graphoepitaxy approach have been generated by e‐beam lithography on a commercial hydrogen silsquioxane resist. In a more prospective but promising approach, the second part of this paper focus on the study of the self‐assembly of rod‐coil amylose‐b‐polystyrene (Mal‐b‐PS) block copolymer. Interestingly, the nano‐organization of this block copolymer falls in an interdomain spacing of about 10 nm, much smaller than flexible‐flexible petrol block copolymer systems. In addition, hydrogen‐bonding interactions between carbohydrate rods (amylose) and 40,4‐bipyridine (bipy) molecules induce phase transitions. Such kind of systems coupled with the transferring approach and graphoepitaxy strategies exposed in this paper could permit to get ultra small (<10 nm) and well‐organized patterns. (© 2013 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Visual servoing of mobile robots for posture stabilization: from theory to experiments
Authors: Zhang Xuebo , Fang Yongchun , Sun Ning 
Published: August 2013

SUMMARYOn the basis of the kinematic model of a unicycle mobile robot in polar coordinates, an adaptive visual servoing strategy is proposed to regulate the mobile robot to its desired pose. By regarding the unknown depth as model uncertainty, the system error vector can be chosen as measurable signals that are reconstructed by a motion estimation technique. Then, an adaptive controller is carefully designed along with a parameter updating mechanism to compensate for the unknown depth information online. On the basis of Lyapunov techniques and LaSalle's invariance principle, rigorous stability analysis is conducted. Because the control law is elegantly designed on the basis of the polar‐coordinate‐based representation of error dynamics, the consequent maneuver behavior is natural, and the resulting path is short. Experimental results are provided to verify the performance of the proposed approach. Copyright © 2013 John Wiley & Sons, Ltd.
The challenge of using the W band in satellite communication
Authors: Riva C. , Capsoni C. , Luini L. , Luccini M. , Nebuloni R. , Martellucci A. 
Published: August 2013

SUMMARYThis contribution outlines the scenario of the expected atmospheric impairments, which affect a satellite radio link operating in the W band, as derived by the present theoretical and experimental knowledge. The paper discusses the contributions to signal fade due to gases, clouds, scintillation and rain (with emphasis also on the impact of the hydrometeor size distribution), as well as to the depolarization of the electromagnetic waves. The main objective is to assess the constraints to face in the design of a satellite telecommunication system operating in the W band. Copyright © 2013 John Wiley & Sons, Ltd.
A software architecture for virtualized educational multimedia games in IPTV environments
Authors: Rodríguez‐Silva Daniel A. , Rodríguez‐Cruz Iria , González‐Castaño Francisco J. 
Published: August 2013

SUMMARYT‐Learning makes it possible to deliver educational content to home TVs. TV operators, which manage huge populations of devices such as set‐top‐boxes (STBs) in user homes, are considering t‐Learning as an interesting option for expanding the service they offer. However, typical STB hardware configurations are limited in terms of satisfying operator needs and do not easily support all types of applications or content. In this work, we consider graphic < e‐Adventure > educational games, which are not directly executable on typical STBs. To cover this gap and guarantee an enjoyable user experience, we present an architecture based on a combination of streaming and remote desktop protocols that relies on virtualized servers deployed in a cloud computing infrastructure. It features an original image‐encoding signalling mechanism that identifies multimedia content in educational games and permits seamless protocol switching at the client side. This architecture is a complete technological solution to virtualize heavy educational games and execute them smoothly on STB light clients over Internet Protocol Television networks. We present performance results that show that our proposal is an efficient scalable solution to deliver t‐Learning to home environments. Copyright © 2013 John Wiley & Sons, Ltd.