bluuebunny/crossref_metadata_2025 huggingface dataset:
AUTOMATIC ISOLATION OF BLURRED IMAGES FROM UAV IMAGE SEQUENCES
Authors: Sieberth T. , Wackrow R. , Chandler J. H.
Published: August 2013

Abstract. Unmanned aerial vehicles (UAV) have become an interesting and active research topic for photogrammetry. Current research is based on images acquired by an UAV, which have a high ground resolution and good spectral and radiometrical resolution, due to the low flight altitudes combined with a high resolution camera. UAV image flights are also cost effective and have become attractive for many applications including change detection in small scale areas. One of the main problems preventing full automation of data processing of UAV imagery is the degradation effect of blur caused by camera movement during image acquisition. This can be caused by the normal flight movement of the UAV as well as strong winds, turbulence or sudden operator inputs. This blur disturbs the visual analysis and interpretation of the data, causes errors and can degrade the accuracy in automatic photogrammetric processing algorithms. The detection and removal of these images is currently achieved manually, which is both time consuming and prone to error, particularly for large image-sets. To increase the quality of data processing an automated filtering process is necessary, which must be both reliable and quick. This paper describes the development of an automatic filtering process, which is based upon the quantification of blur in an image. A “shaking table” was used to create images with known blur during a series of laboratory tests. This platform can be moved in one direction by a mathematical function controlled by a defined frequency and amplitude. The shaking table was used to displace a Nikon D80 digital SLR camera with a user defined frequency and amplitude. The actual camera displacement was measured accurately and exposures were synchronized, which provided the opportunity to acquire images with a known blur effect. Acquired images were processed digitally to determine a quantifiable measure of image blur, which has been created by the actual shaking table function. Once determined for a sequence of images, a user defined threshold can be used to differentiate between “blurred” and "acceptable" images. A subsequent step is to establish the effect that blurred images have upon the accuracy of subsequent measurements. Both of these aspects will be discussed in this paper and future work identified.
DIRECT ORTHOPHOTO GENERATION FROM COLOR POINT CLOUDS OF COMPLEX SCENES
Authors: Skarlatos D. , Kiparissi S. , Theodoridou S.
Published: August 2013

Abstract. During the last decade, laser scanning and automated photogrammetric techniques, proved that it is possible to acquire dense colored point cloud datasets. The density of such datasets sometimes equals or exceeds the density of orthophotos. The standard orthophoto generation process using such dense and full 3D data sets, is tedious as it requires manual corrections over the 3D mesh model, as well as mosaicking and gap filling from adjacent photographs. This paper suggests a fast automated method to produce orthophotos directly from color point clouds, without the need to create a mesh surface, nor to mosaic or fill gaps. Photos from radio controlled helicopter are being processed with traditional photogrammetric process and modern computer vision techniques, against the proposed method. Reference data from land surveying are being used to compare orthophotos from different sources.
THE USE OF MOBILE LASER SCANNING DATA AND UNMANNED AERIAL VEHICLE IMAGES FOR 3D MODEL RECONSTRUCTION
Authors: Zhu L. , Jaakkola A. , Hyyppä J.
Published: August 2013

Abstract. The increasing availability in multiple data sources acquired by different sensor platforms has provided the great advantages for desired result achievement. This paper proposes the use of both mobile laser scanning (MLS) data and Unmanned Aerial Vehicle (UAV) images for 3D model reconstruction. Due to no available exterior orientation parameters for UAV images, the first task is to georeference these images to 3D points. In order to fast and accurate acquire 3D points which are also easy to be found the corresponding locations on UAV images, automated pole extraction from MLS was developed. After georeferencing UAV images, building roofs are acquired from those images and building walls are extracted from MLS data. The roofs and the walls are combined to achieve the complete building models.
HYPERSPECTRAL REMOTE SENSING WITH THE UAS "STUTTGARTER ADLER" – CHALLENGES, EXPERIENCES AND FIRST RESULTS
Authors: Buettner A. , Roeser H. P.
Published: August 2013

Abstract. The UAS "Stuttgarter Adler" was designed as a flexible and cost-effective remote-sensing platform for acquisition of high quality environmental data. Different missions for precision agriculture applications and BRDF-research have been successfully performed with a multispectral camera system and a spectrometer as main payloads. Currently, an imaging spectrometer is integrated in the UAS as a new payload, which enables the recording of hyperspectral data in more than 200 spectral bands in the visible and near infrared spectrum. The recording principle of the hyperspectral instrument is based on a line scanner. Each line is stored as a matrix image with spectral information in one axis and spatial information in the other axis of the image. Besides a detailed specification of the system concept and instrument design, the calibration procedure of the hyperspectral sensor system is discussed and results of the laboratory calibration are presented. The complete processing chain of measurement data is described and first results of measurement-flights over agricultural test sites are presented.
Eliminating and Modelling Non-metric Camera Sensor Distortions Caused by Sidewise and Forward Motion of the UAV
Authors: Chabok M.
Published: August 2013

Abstract. This paper explains the critical importance of modelling and eliminating the effect of motion of an Unmanned Aerial Vehicle (UAV) as a result of air turbulence and unstable flight conditions on a camera sensor and the image geometry. A new method for improving the geometrical distortions caused by this motion is introduced. We have developed a hardware and software tool to minimize and model the geometric distortion of the image from commercial off-the-shelf (COTS) cameras which are commonly being used in aerial mapping UAVs. Due to the rolling shutter mechanism of the most common SLR cameras, sideway and forward motions of the UAV during image capture will have a strong effect on the image geometry and final product accuracies. As the amount of this random distortion varies from one photo to the next, a unique and robust camera calibration model cannot be established for interior orientation and image processing using photogrammetric methods, even by self-calibration. To achieve the highest possible accuracy, we also consider temperature effects on the camera calibration parameters. In this paper we show the results, accuracies and benefits of using this method compared with a typical UAV mapping system. To the best of our knowledge this is the first time that this method has been implemented in a UAV mapping system.
ON THE USE OF RPAS IN NATIONAL MAPPING – THE EUROSDR POINT OF VIEW
Authors: Cramer M. , Bovet S. , Gültlinger M. , Honkavaara E. , McGill A. , Rijsdijk M. , Tabor M. , Tournadre V.
Published: August 2013

Abstract. Following the latest developments in Remotely Piloted Airborne Systems (RPAS) industry and attending some of the most prominent fairs related to the field of geomatics one easily recognizes that it is RPAS, which is strongly pushed into the civilian market. It really is of interest, if official authorities like National Mapping Agencies (NMAs) are starting to implement the RPASs technology within their specific data acquisition processes – to establish alternatives to their traditional manned photogrammetric survey flights. The European Spatial Data Research organization (EuroSDR), representing European NMAs and research organizations of currently 17 European states, is following UAV developments since end of 2004, where an ongoing activity was created, to continuously update their members on the developments in this technology. As systems consolidated, new impetus was given to more deeply explore the potential RPAS for national mapping. Today first national mapping agencies have already used RPAS based data for first experiments in mapping. Several NMAs are discussing on the future role of this technology within their agencies. This report will try to give an overview on the current situation on the use of RPAS in European mapping agencies. Based on the input from some selected NMAs, their expectations on RPAS technology, the fields of use they foresee in their countryspecific surroundings and – exemplarily – first experiences with this type of technology will be presented. Even though the use of RPAS in NMAs is still new, substantial technical and operational benefits become obvious already. With that, the paper will try to give a state-of-the-art report on the current activities and overall acceptance of RPAS technology in European photogrammetric mapping.
The characteristics of lightning risk and zoning in Beijing simulated by a risk assessment model
Authors: Hu H. , Wang J. , Pan J.
Published: August 2013

Abstract. In this study, the Cloud-to-Ground (CG) lightning flash/stroke density has been derived from the Lightning Location Finder (LLF) data recorded in recent years. Meanwhile, the vulnerability on land surfaces has been assessed by the classification of the building, outdoor area under the building canopy and open-field area, which makes it convenient to deduce the location factor and confirm the protective capability. Then, the number of dangerous lightning event can be estimated by product of the CG stroke density and vulnerability. Although the human beings and all their material properties are identically exposed to lightning, the lightning casualty risk and property loss risk have been assessed respectively due to their vulnerability discrepancy. The analysis of the CG flash density in Beijing revealed that the JuMaHe river-valley in the southwestern region, the ChangPing–ShunYi zone downwind of the Beijing metropolis, and the mountainous PingGu–MiYun zone near the seashore are the most active lightning areas, with densities greater than 1.5 fl km-2 yr-1. Moreover, the mountainous northeastern, northern, and northwestern rural areas are relatively vulnerable to lightning due to the ability of high elevation terrain to attract lightning and the lack of protection measures. In contrast, lightning incidents by indirect lightning are most likely to occur in urban areas with high population density and aggregated properties, and the property damages caused by lightning are more extensive than those in suburban and rural areas. However, casualty incidents caused by direct lightning strokes seldom occur in urban areas. On the other hand, the simulation based on the Lightning Risk Assessment Model (LRAM) demonstrates that the casualty risk is higher in rural, whereas the property loss risk is higher in urban, and this conclusion is also supported by the historical casualty and damage reports.
Temporal variations of zooplankton biomass in the Ligurian Sea inferred from long time series of ADCP data
Authors: Bozzano R. , Fanelli E. , Pensieri S. , Picco P. , Schiano M. E.
Published: August 2013

Abstract. Three years of 300 kHz ADCP data collected in the central Ligurian Sea are analyzed to investigate the variability of the zooplankton biomass and the Diel Vertical Migrations (DVM) in the upper thermocline. After a pre-processing aimed at avoiding the slant range attenuation, hourly volume backscattering strength time series are obtained. Despite the lack of concurrent net samples collection, different migration patterns are identified and their temporal variability examined by means of time-frequency analysis. The effect of changes in the environmental condition is also investigated. Highest zooplankton biomasses are observed in April–May just after the peak of surface primary production in March–April. The main migration pattern points to a "nocturnal" migration with zooplankton organisms occurring deeper in the water column during the day and shallower at night. Also twilight migration is highlighted during this study. The largest migrations are recorded in November–December, corresponding to lowest backscattering strength values and are likely attributable to larger and more active organisms (i.e. euphausiids and mesopelagic fish). The results suggest further applications of the historical ADCP time series available.
PROSPECCIÓN DE LA ESPECIE Commelina benghalensis L. (Commelinaceae) EN LA REGIÓN CENTRAL Y SUR DE NICARAGUA Y ANÁLISIS DE RIESGO DE SU INTRODUCCIÓN A TRAVÉS DE SEMILLA DE PASTOS
Authors: Alemán Freddy
Published: August 2013

La especie Commelina bengalensis L. es una maleza de alto riesgo y reconocida agresividad, la cual, conforme legislación vigente en Nicaragua, tiene restringida la introducción al país. En vista de lo anterior, se llevó a cabo un estudio con el propósito de determinar la presencia-ausencia de dicha especie en la región sur-central y sur de Nicaragua, y en caso de ausencia, realizar un análisis de riesgo de introducción de la especie a través de la importación de semilla de pastos. El estudio se llevó a cabo en los departamentos de Boaco, Chontales, Rivas y el municipio de Nueva Guinea. El estudio es de naturaleza no experimental, de corte trasversal. En un periodo de 15 días, entre el 15 de marzo y el 30 de marzo del año 2012 se llevaron a cabo muestreos sistemáticos en pastizales de 14 fincas ganaderas en las regiones mencionadas. La información obtenida fue presencia o ausencia de la especie en mención, e información referente a otras especies del genero Commelina, con el propósito de corroborar o descartar la presencia de la especie. Posteriormente, en vista de la ausencia de la especie en los campos muestreados, en trabajo de gabinete se realizó una revisión documental con el propósito de hacer una evaluación del riesgo de introducción de la especie. Los resultados muestran ausencia de la especie. Durante el estudio fue posible determinar la presencia de las especies C. diffusa y C. erecta, las cuales muestras similitudes con C. benghalensis, sin embargo, particularidades morfológicas de esta última permiten descartar que se trate de dicha especie. Para evitar la introducción y establecimiento de C. benghalensis se debe exigir que las semillas de pastos importadas provengan de sitios libres de la especie, y donde se realice un manejo fitosanitario que garantice que el producto esté libre de semilla de la especie, realizar programa de verificación en los sitios de origen para determinar la procedencia de las semillas, así como cumplimiento de los requisitos que se establecen en programas de producción de semillas, exigir certificado fitosanitario internacional que indique que el producto proviene de áreas libres la maleza y localmente realizar inspección, muestreo y análisis de laboratorio para determinar la ausencia o presencia de la maleza DOI: http://dx.doi.org/10.5377/calera.v12i19.1182 La Calera Revista Científica Vol. 12. Nº 19, p. 86-90 / diciembre 2012
Revision of the types of species of Alloxysta described by Cameron and Fergusson (Hymenoptera: Figitidae: Charipinae) and deposited in the Natural History Museum (London), including a key to the fauna of Great Britain
Authors: Ferrer-Suay Mar , Selfa Jesús , Notton David G. , Pujade-Villar Juli
Published: August 2013

Type material of the species of Alloxysta described by Cameron and Fergusson and deposited in the Natural History Museum of London has been revised. Seven species are considered valid: Alloxysta abdera Fergusson, 1986, A. basimacula (Cameron, 1886), A. crassa (Cameron, 1889), A. mullensis (Cameron, 1883), A. piceomaculata (Cameron, 1883), A. pleuralis (Cameron, 1879) and A. semiaperta Fergusson, 1986. A. basimacula, A. crassa, A. maculicollis (Cameron, 1886), A. perplexa (Cameron, 1889) and A. piceomaculata are here removed from synonymy with A. macrophadna (Hartig,1841). A. ruficeps (Cameron, 1883) is removed from synonymy with A. victrix (Westwood, 1833). A. caledonica (Cameron, 1886) and A. perplexa are here synonymized with A. basimacula. A. maculicollis, A. ruficeps and A. ruficollis (Cameron, 1883) are here synonymized with A. castanea (Hartig, 1841). A. ancylocera (Cameron, 1886) was correctly synonymized with A. fuscicornis (Hartig, 1841), A. curvicornis (Cameron, 1883) was correctly synonymized with A. victrix and A. filicornis (Cameron, 1889) was correctly synonymized with A. macrophadna. Complete redescriptions and illustrations are given for valid species. A key for all the Alloxysta species found so far in Great Britain is given.
Minimizing raw water NOM concentration through optimized source water selection
Authors: Weiss W. Joshua , Schindler Steven C. , Freud Salome , Herzner Julie A. , Hoek Katie F. , Wright Benjamen A. , Reckhow David A. , Becker William C.
Published: August 2013

Natural organic matter (NOM) is present in all raw water supplies and is the major precursor to chlorinated disinfection by‐products (DBPs). Reducing the amount of NOM entering treatment plants and better understanding the character of NOM in raw water supplies are essential for optimizing treatment and meeting more‐stringent regulations. A study of the unfiltered New York City (NYC) water supply system evaluated the extent to which alternative raw water selection strategies could reduce finished water DBP concentrations. A two‐year monitoring program was conducted to establish spatial and temporal patterns of DBP precursors in NYC's upstate reservoirs. System operations modeling was driven with a statistically generated, long‐term time series of dissolved organic carbon concentrations for each reservoir as a proof‐of‐concept evaluation of alternative operating rules to minimize precursor transport to terminal reservoirs. Results found that DBP precursors varied widely among reservoirs and over time but that modified reservoir operations could substantially reduce finished water DBP concentrations.
Residential landscape water use in 13 North Carolina communities
Authors: Fair Barbara A. , Safley Charles
Published: August 2013

In 2009, North Carolina State University researchers conducted a survey of residents from 13 North Carolina communities to gather information on attitudes and behaviors related to landscape water use. The survey gathered information on landscape type, water use, and the effectiveness of watering restrictions. Actual water‐use data for a two‐year period was anonymously matched with participating households. The survey achieved a 49% response rate. Most respondents indicated that more than 75% of their landscape consisted of lawn, with 60% using warm‐season turfgrass species. Those whose lawns were planted with cool‐season grass used more water than those whose lawns were planted with warm‐season species. A total of 42% of respondents restricted their landscape water use to new plantings or stressed plants. More than 88% of respondents watered by hand. In most communities, no watering restrictions were in place during this survey. Water purveyors can use the results of this survey to better understand their customers' outdoor water use and thus develop effective education programs on water conservation techniques related to landscape irrigation.
Outdoor Orientation Program Trends at Colleges and Universities in the United States
Authors: Bell Brent , Starbuck J. David
Published: August 2013

n/a
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux–lamy syndrome)
Authors: Brands Marion , Roelants Jorine , de Krijger Ronald , Bogers Ad , Reuser Arnold , van der Ploeg Ans , Helbing Wim
Published: August 2013

Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Maroteaux–Lamy syndrome whose cardiac condition deteriorated and eventually led to cardiac failure at the age of 7 years due to severe mitral regurgitation. She received a mitral valve replacement and tricuspid repair with successful outcome. Histologic examination of the mitral valve showed abundant “clear” cells in both the leaflets and chordae tendineae. In Hurler disease (MPS I), similar cells have been identified as activated valvular interstitial cells (VICs, a myofibroblast like cell type). Here we report that the “clear” cells are CD68 positive, a frequently used marker of macrophage lineage. The “clear” cells remained unstained with the more specific macrophage marker CD14 while persistent staining of other cells demonstrated macrophage infiltration. From these observations, we infer that macrophages are involved in mitral valve pathology in MPS VI. © 2013 Wiley Periodicals, Inc.
The phenotype range of achondrogenesis 1A
Authors: Grigelioniene Giedre , Geiberger Stefan , Papadogiannakis Nikos , Mäkitie Outi , Nishimura Gen , Nordgren Ann , Conner Peter
Published: August 2013

Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. ACG1A is caused by mutations in the TRIP11 gene, resulting in deficiency of the Golgi microtubule associated protein 210. In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene. In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3′ end of the TRIP11 gene. We conclude that mutations of the TRIP11 gene may encompass a wider phenotypic range than previously recognized. © 2013 Wiley Periodicals, Inc.
Germline mosaicism does not explain the maternal age effect on trisomy
Authors: Rowsey Ross , Kashevarova Anna , Murdoch Brenda , Dickenson Carrie , Woodruff Tracey , Cheng Edith , Hunt Patricia , Hassold Terry
Published: August 2013

A variety of hypotheses have been proposed to explain the association between trisomy and increasing maternal age in humans, virtually all of which assume that the underlying mechanisms involve meiotic errors. However, recently Hultén and colleagues [Hulten et al., 2010b] proposed a provocative model—the Oocyte Mosaicism Selection Model (OMSM)—that links age‐dependent trisomy 21 to pre‐meiotic errors in the ovary. Specifically, they propose that nondisjunctional events occur in a proportion of germ cells as they mitotically proliferate, resulting in mosaicism for trisomy 21. Assuming that the presence of an additional chromosome 21 delays meiotic progression, these cells would be ovulated later in reproductive life, resulting in an age‐dependent increase in aneuploid eggs. Because this model has important clinical implications, we initiated studies to test it. We first analyzed oocytes from two trisomy 21 fetuses, combining immunostaining with FISH to determine the likelihood of detecting the additional chromosome 21 at different stages of meiosis. The detection of trisomy was enhanced during the earliest stage of prophase (leptotene), before homologs synapsed. Accordingly, in subsequent studies we examined the chromosome content of leptotene oocytes in seven second trimester female fetuses, analyzing three chromosomes commonly associated with human trisomies (i.e., 13, 16, and 21). In contrast to the prediction of the OMSM, we found no evidence of trisomy mosaicism for any chromosome. We conclude that errors in pre‐meiotic germ cells are not a major contributor to human aneuploidy and do not provide an explanation for the age‐related increase in trisomic conceptions. © 2013 Wiley Periodicals, Inc.
Osteogenesis imperfecta, tricho‐dento‐osseous syndrome and intellectual disability: A familial case with 17q21.33‐q22 (COL1A1 and DLX3) deletion and 7q32.3‐q33 duplication resulting from a reciprocal interchromosomal insertion
Authors: Harbuz Radu , Bilan Frédéric , Couet Dominique , Charraud Valérie , Kitzis Alain , Gilbert‐Dussardier Brigitte
Published: August 2013

We report on a 22‐year‐old woman with features of osteogenesis imperfecta (OI), tricho‐dento‐osseous (TDO) syndrome and intellectual disability. Whole genome oligonucleotide microarray analysis revealed a copy number gain of 3 Mb in 7q32.3‐q33 and a loss of 3.4 Mb in 17q21.33‐q22. FISH analysis showed that the third copy of 7q32 was inserted into the long arm of one chromosome 17, exactly in the region 17q21.33‐q22 that was deleted. The maternal uncle presented with clinical features similar to the proposita and had the same chromosomal anomalies. The mother of the proposita and two other family members were balanced carriers of this rearrangement, interpreted as an interchromosomal reciprocal insertion. Reciprocal insertion/four‐break rearrangement is a very rare chromosomal event. The deleted region on chromosome 17 contains 39 genes, including COL1A1 and DLX3 involved in OI and TDO syndrome respectively. The CACNA1G gene on the deleted segment of chromosome 17 may be a good candidate gene to explain the intellectual impairment. © 2013 Wiley Periodicals, Inc.
Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature
Authors: Guo Michael H. , Stoler Joan , Lui Julian , Nilsson Ola , Bianchi Diana W. , Hirschhorn Joel N. , Dauber Andrew
Published: August 2013

Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers–Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers–Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers–Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers–Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers–Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders. © 2013 Wiley Periodicals, Inc.
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome
Authors: Matsushita Masaki , Kitoh Hiroshi , Kaneko Hiroshi , Mishima Kenichi , Kadono Izumi , Ishiguro Naoki , Nishimura Gen
Published: August 2013

The phenotypic similarities have been demonstrated between non‐lethal campomelic dysplasia (CD) and small patella syndrome (SPS), in which different genetic defects have been identified. We report on a familial case of skeletal dysplasia with overlapping phenotype of mild CD and SPS, including defective ischio‐pubic ossification, elongated femoral neck, hypoplastic patellae, and increased space between the first and the second toes (sandal gap). Direct sequencing analysis demonstrated a novel missense mutation (p.H169Q) within the coding region of the SOX9 gene and negative for TBX4 mutations. Functional analysis of the p.H169Q mutant revealed reduced but not fully abolished transactivation capacity of the mutated protein. Retained residual SOX9 function might contribute to an extremely mild CD phenotype in the present cases. © 2013 Wiley Periodicals, Inc.
Autism and epistemology IV: Does autism need a theory of mind?
Authors: Fisch Gene S.
Published: August 2013

In their article, “Does the autistic child have a ‘theory of mind’?,” Baron‐Cohen et al. [1985] proposed a novel paradigm to explain social impairment in children diagnosed as autistic (AD). Much research has been undertaken since their article went to print. The purpose of this commentary is to gauge whether Theory of Mind (ToM)—or lack thereof—is a valid model for explaining abnormal social behavior in children with AD. ToM is defined as “the ability to impute mental states to oneself and to others” and “the ability to make inferences about what other people believe to be the case.” The source for their model was provided by an article published earlier by Premack and Woodruff, “Does the chimpanzee have a theory of mind?” Later research in chimpanzees did not support a ToM in primates. From the outset, ToM as a neurocognitive model of autism has had many shortcomings—methodological, logical, and empirical. Other ToM assumptions, for example, its universality in all children in all cultures and socioeconomic conditions, are not supported by data. The age at which a ToM emerges, or events that presage a ToM, are too often not corroborated. Recent studies of mirror neurons, their location and interconnections in brain, their relationship to social behavior and language, and the effect of lesions there on speech, language and social behavior, strongly suggests that a neurobiological as opposed to neurocognitive model of autism is a more parsimonious explanation for the social and behavioral phenotypes observed in autism. © 2013 Wiley Periodicals, Inc.
Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample
Authors: Böhmer Anne C. , Mangold Elisabeth , Tessmann Peter , Mossey Peter A. , Steegers‐Theunissen Regine P. , Lindemans Jan , Bouwman‐Both Marieke , Rubini Michele , Franceschelli Paola , Aiello Vincenzo , Peterlin Borut , Molloy Anne M. , Nöthen Markus M. , Knapp Michael , Ludwig Kerstin U.
Published: August 2013

Nonsyndromic cleft lip with or without cleft palate (NSCL/P), the most common type of orofacial clefting, is one of the most frequent congenital defects. Based on epidemiological data, NSCL/P can be distinguished from nonsyndromic cleft palate only (NSCPO). Both phenotypes have a complex etiology and environmental and genetic factors are involved in their development. To date, genome‐wide association studies have identified 12 genetic factors that increase the risk for NSCL/P in Europeans. Six of them have been independently replicated in samples derived from the same population. The aim of the present study was to replicate the remaining six NSCL/P risk loci in chromosomal regions 1p22.1, 1p36, 3p11.1, 8q21.3, 15q22.2, and 20q12 in a family‐based sample of European descent. Each of the top‐associated SNPs (single nucleotide polymorphisms) was genotyped in 343 NSCL/P and 266 NSCPO nuclear trios. Single‐marker association analysis in the NSCL/P sample showed a significant association with SNP rs742071 (1p36, Pcorrected = 3.74 × 10−3), which is located in the intronic region of PAX7, a gene known to be functionally implicated in craniofacial development. Two additional loci, 1p22.1 and 20q12, were nominally significant, but did not withstand correction for multiple testing. There was no evidence that the NSCL/P risk alleles contribute to the etiology of NSCPO, further supporting that these two subtypes of orofacial clefting are primarily etiologically distinct. © 2013 Wiley Periodicals, Inc.
Silver–Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization
Authors: Cocchi Guido , Marsico Concetta , Cosentino Anita , Spadoni Chiara , Rocca Alessandro , De Crescenzo Agostina , Riccio Andrea
Published: August 2013

Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin‐girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2 Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART‐conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long‐term follow‐up of children conceived using ART. © 2013 Wiley Periodicals, Inc.
Management of hypogonadism in adolescent girls and adult women with Prader–Willi syndrome
Authors: Eldar‐Geva Talia , Hirsch Harry J. , Pollak Yehuda , Benarroch Fortu , Gross‐Tsur Varda
Published: August 2013

Prader–Willi syndrome (PWS) is a neurodevelopmental disorder characterized by an insatiable appetite, dysmorphic features, cognitive and behavioral difficulties, and hypogonadism. The heterogeneous reproductive hormone profiles indicate that some PWS women may have symptoms of hypoestrogenism, while others may potentially be fertile. We describe our experience in the assessment and treatment of hypogonadism in adolescents and adult females with PWS. The study population consisted of 20 PWS females, age ≥16 years (27.3 ± 7.9 years), followed in our clinic (12 deletion, 7 uniparental disomy, 1 imprinting‐center defect). General physical examination, pubertal assessment, body mass index (BMI), gynecological examination, ultrasonography, bone densitometry, and hormonal profiles [FSH, LH, inhibin B, estradiol, prolactin, and TSH] were performed. The relevant assessed factors were: FSH and inhibin B, menstrual cycles (oligo/amenorrhea or irregular bleeding), ultrasound findings (endometrial thickness, uterine/ovarian abnormalities), BMI, bone densitometry, and patient/caregivers attitude. We classified seven women with inhibin B >20 ng/ml as potentially fertile. Following the assessment of the above factors, we recommended the individual‐specific treatment; contraceptive pills, intra‐uterine device, estrogen/progesterone replacement, and cyclic progesterone, in 3, 1, 4, and 1 patients, respectively. Four patients did not follow our recommendations due to poor compliance or family refusal. We recommended contraception pills for one 26‐year‐old woman with inhibin B and FSH levels 53 ng/ml and 6.4 IU/L; however, she refused treatment, conceived spontaneously and had an abortion. Guidelines for hormonal replacement therapy in PWS need to be tailored individually depending on physical development, hormonal profiles, bone density, and emotional and social needs of each PWS adolescent and adult. © 2013 Wiley Periodicals, Inc.
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case
Authors: Perche Olivier , Haddad Georges , Menuet Arnaud , Callier Patrick , Marcos Mélanie , Briault Sylvain , Laudier Béatrice
Published: August 2013

“FOXG1 syndrome” includes postnatal microcephaly, severe intellectual disability with absence of language and agenesis of the corpus callosum. When the syndrome is associated with large 14q12q13 deletions, the patients present characteristic facial dysmorphism. Although all reports were based on genomic analysis, recently a FOXG1 regulatory elements deletion, associated with down regulated mRNA, suggested an implication of FOXG1 pathway. Herein, we report on a young boy with a phenotype consistent with a FOXG1 syndrome. He had a de novo translocation t(6;14)(q22.1;q12) associated with a heterozygous 14q12.2q13 deletion encompassing FOXG1. Subsequently, we investigated his transcriptomic profile on lymphoblastoïd cell lines and/or fibroblasts and showed that FOXG1 was commonly down‐regulated. Moreover, several other FOXG1 pathway genes were also disturbed. Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the “FOXG1 syndrome” developmental disorder. © 2013 Wiley Periodicals, Inc.
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
Authors: Dikoglu Esra , Simsek‐Kiper Pelin Ozlem , Utine Gulen Eda , Campos‐Xavier Belinda , Boduroglu Koray , Bonafé Luisa , Superti‐Furga Andrea , Unger Sheila
Published: August 2013

Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15. © 2013 Wiley Periodicals, Inc.
Porcine small intestine submucosal graft for endoscopic skull base reconstruction
Authors: Illing Elisa , Chaaban Mohamad R. , Riley Kristen O. , Woodworth Bradford A.
Published: August 2013

Background

Skull base defects and encephaloceles of the sinus and nasal cavities are routinely repaired endoscopically using a variety of materials including bone, cartilage, fascia, acellular dermal allografts, and xenografts, with high success rates. However, there is a paucity of data regarding the use of porcine small intestine submucosal (SIS) grafts for endoscopic dural repair. The purpose of the current study was to review outcomes using SIS grafts in the endoscopic reconstruction of skull base defects.

Methods

Review of prospectively collected data regarding skull base defect repair using SIS was performed. Demographics, location, and size of skull base defect, method of repair, successful closure, and complications were recorded.

Results

Over 4.5 years, 155 patients (mean age 49 years) underwent 170 primary skull base repairs using porcine SIS. Etiologies included tumor (76), spontaneous (51), trauma (37), and congenital (5). The majority of repairs were in combination with a nasoseptal flap (n = 113). Average defect size (length vs width) was 13 × 10.5 mm. Success rate on first attempt was 94.7% (161/170), and all defects were effectively sealed on subsequent endoscopic revision. The average follow‐up was 77 weeks. Major postoperative complications, including recurrent cerebrospinal fluid (CSF) leak (9), meningitis (1), periorbital cellulitis (1), and invasive fungal sinusitis (1), occurred in 6.4% of individuals with no long‐term sequelae.

Conclusion

Use of porcine SIS dural graft was associated with excellent outcomes in this study and evidence presented here supports its routine use in the endoscopic closure of skull base defects.
Emerging therapeutics in sleep
Authors: Saper Clifford B. , Scammell Thomas E.
Published: August 2013

The development of new therapeutics for sleep disorders is increasingly dependent upon understanding the basic brain circuitry that underlies sleep–wake regulation, and how it may be pharmacologically manipulated. In this review, we consider the pathophysiological basis of major sleep disorders that often are seen by neurologists, including excessive daytime sleepiness, insomnia, narcolepsy, rapid eye movement sleep behavior disorder, and restless legs syndrome, as well as circadian disorders, and we review the current and potential future therapeutic approaches. Ann Neurol 2013;74:435–440
Multiple sclerosis: Prospects and promise
Authors: Hauser Stephen L. , Chan Jonah R. , Oksenberg Jorge R.
Published: August 2013

We have entered a golden era in multiple sclerosis (MS) research. Two decades ago, our understanding of the disease was largely descriptive and there were no approved therapies to modify the natural history of MS. Today, delineation of immune pathways relevant to MS have been clarified; a comprehensive map of genes that influence risk compiled; clues to environmental triggers identified; noninvasive in vivo monitoring of the MS disease process has been revolutionized by high‐field MRI; and many effective therapies for the early, relapsing, component of MS now exist. However, major challenges remain. We still have no useful treatment for progressive MS (the holy grail of MS research), no means to repair injured axons or protect neurons, and extremely limited evidence to guide treatment decisions. Recent advances have set in place a foundation for development of increasingly selective immunotherapy for patients; application of genetic and genomic discoveries to improve therapeutic options; development of remyelination or neuroprotection therapies for progressive MS; and integrating clinical, imaging and genomic data for personalized medicine. MS has now advanced from the backwaters of autoimmune disease research to the front‐line, and definitive answers, including cures, are now realistic goals for the next decade. Many of the breakthrough discoveries in MS have also resulted from meaningful interactions across disciplines, and especially from translational and basic scientists working closely with clinicians, highlighting that the clinical value of discoveries are most often revealed when ideas developed in the laboratory are tested at the bedside. Ann Neurol 2013;74:317–327
Uniformly Dispersed and Controllable Ligand‐Free Silver‐Nanoparticle‐Decorated TiO2 Nanotube Arrays with Enhanced Photoelectrochemical Behaviors
Authors: Bian Haidong , Shu Xia , Zhang Jianfang , Yuan Bao , Wang Yan , Liu Lingjuan , Xu Guangqing , Chen Zhong , Wu Yucheng
Published: August 2013

Homogeneously dispersed silver nanoparticles (AgNPs) were successfully decorated onto the surface of TiO2 nanotube arrays (TNTA) by means of an in situ photoreduction method. TNTA films as supports exhibit excellent properties to prevent agglomeration of AgNPs, and they also avoid using polymer ligands, which is deleterious to enhancing the properties of the fabricated NPs. The silver particle size and its content could be controlled just by changing the immersion time. Detailed SEM and TEM analyses combined with energy‐dispersive X‐ray spectroscopy analyses with different immersion times (5, 10, 30, 60 min) have revealed the variation tendency. The prepared Ag/TNTA composite films were also characterized by XRD, X‐ray photoelectron spectroscopy, and high‐resolution TEM. The UV/Vis diffuse reflectance spectra displayed a redshift of the absorption peak with the growth of AgNPs. The photocurrent response and the photoelectrocatalytic degradation of methyl orange (MO) were used to evaluate the photoelectrochemical properties of the fabricated samples. The results showed that the photocurrent response and photoelectrocatalytic activity largely depended on the loaded Ag particle size and content. TNTA films with a diameter of 17.92 nm and silver content of 1.15 at % showed the highest photocurrent response and degradation rate of MO. The enhanced properties could be attributed to the synergistic effect between AgNPs and TiO2. To make good use of this effect, particle size and silver content should be well controlled to develop the electron charge and discharge process during the photoelectrical process. Neither smaller nor larger AgNPs caused decreased photoelectrical properties.
Reaction of Amines with 8‐MethylthioBODIPY: Dramatic Optical and Laser Response to Amine Substitution
Authors: Esnal Ixone , Urías‐Benavides Arlette , Gómez‐Durán C. F. Azael , Osorio‐Martínez Carlos A. , García‐Moreno Inmaculada , Costela Angel , Bañuelos Jorge , Epelde Nerea , López Arbeloa Iñigo , Hu Rongrong , Zhong Tang Ben , Peña‐Cabrera Eduardo
Published: August 2013

A thorough study of the photophysical and laser properties of 8‐aminoboron dipyrromethene dyes was undertaken to determine the role of amine substitution and spatial disposition on the properties of the dyes. It was found that the fluorescent and laser response varied significantly. Although primary amines give rise to highly fluorescent products at the blue edge of the visible region, secondary amines yield nonfluorescent analogues in polar media. The crystal structures of two analogues are reported and described. Steric hindrance and the higher electron‐releasing ability of the amine favor the formation of a quenching intramolecular charge‐transfer state. Accordingly, boron dipyrromethene derivatives with primary amines exhibited laser emission with efficiencies of up to 44 %. Besides, the more efficient derivative was also the most photostable, leading to a significant improvement in the lasing performance with regard to previously reported 8‐aminoboron dipyrromethene derivatives. An increase in the solvent polarity, and mainly the presence of tertiary cyclic amines, led to a dramatic decrease or even the loss of the laser action.
Finite‐Time Tracking Control for Nonholonomic Mobile Robots Based on Visual Servoing
Authors: Ou Meiying , Li Shihua , Wang Chaoli
Published: August 2013

This paper investigates the finite‐time tracking problem of nonholonomic mobile robots in kinematic models via visual servoing in the presence of parametric uncertainties associated with the camera system. First of all, a camera‐objective visual kinematic model is introduced by utilizing the pinhole camera model. Second, a unified tracking error system between the camera‐objective visual servoing model and the desired reference trajectory is introduced. Third, based on the unified error dynamics and by using the finite‐time control method, continuous finite‐time controller laws are designed to solve the finite‐time tracking problem for the mobile robot in the presence of parametric uncertainties associated with the camera system. Rigorous proof shows that the desired reference trajectory can be tracked in finite time. Finally, an example is employed to verify the efficiency of the proposed methods.