A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance

Face Detection in Still Gray Images

We present a trainable system for detecting frontal and near-frontal views of faces in still gray images using Support Vector Machines (SVMs). We first consider the problem of detecting the whole face pattern by a single SVM classifer. In this context we compare different types of image features, present and evaluate a new method for reducing the number of features and discuss practical issues concerning the parameterization of SVMs and the selection of training data. The second part of the paper describes a component-based method for face detection consisting of a two-level hierarchy of SVM classifers. On the first level, component classifers independently detect components of a face, such as the eyes, the nose, and the mouth. On the second level, a single classifer checks if the geometrical configuration of the detected components in the image matches a geometrical model of a face.

Exploring combinations of different color and facial expression stimuli for gaze-independent BCIs

Background: Some studies have proven that a conventional visual brain computer interface (BCI) based on overt attention cannot be used effectively when eye movement control is not possible. To solve this problem, a novel visual-based BCI system based on covert attention and feature attention has been proposed and was called the gaze-independent BCI. Color and shape difference between stimuli and backgrounds have generally been used in examples of gaze-independent BCIs. Recently, a new paradigm based on facial expression changes has been presented, and obtained high performance. However, some facial expressions were so similar that users couldn't tell them apart, especially when they were presented at the same position in a rapid serial visual presentation (RSVP) paradigm. Consequently, the performance of the BCI is reduced. New Method: In this paper, we combined facial expressions and colors to optimize the stimuli presentation in the gaze-independent BCI. This optimized paradigm was called the colored dummy face pattern. It is suggested that different colors and facial expressions could help users to locate the target and evoke larger event-related potentials (ERPs). In order to evaluate the performance of this new paradigm, two other paradigms were presented, called the gray dummy face pattern and the colored ball pattern. Comparison with Existing Method(s): The key point that determined the value of the colored dummy faces stimuli in BCI systems was whether the dummy face stimuli could obtain higher performance than gray faces or colored balls stimuli. Ten healthy participants (seven male, aged 21–26 years, mean 24.5 ± 1.25) participated in our experiment. Online and offline results of four different paradigms were obtained and comparatively analyzed. Results: The results showed that the colored dummy face pattern could evoke higher P300 and N400 ERP amplitudes, compared with the gray dummy face pattern and the colored ball pattern. Online results showed that the colored dummy face pattern had a significant advantage in terms of classification accuracy (p < 0.05) and information transfer rate (p < 0.05) compared to the other two patterns. Conclusions: The stimuli used in the colored dummy face paradigm combined color and facial expressions. This had a significant advantage in terms of the evoked P300 and N400 amplitudes and resulted in high classification accuracies and information transfer rates. It was compared with colored ball and gray dummy face stimuli.

Avaliação cefalométrica comparativa da previsibilidade manual e computadorizada dos resultados do tratamento ortodôntico-cirúrgico bimaxilar em pacientes face longa: estudo retrospectivo

Pós-graduação em Odontologia - FOA

Estudo cefalométrico comparativo dos traçados predictivos e resultados ortodôntico-cirúrgicos em pacientes com face longa

The purpose of this research was to compare, by cephalometric analysis (McNamara and Legan & Burstone) the predictive tracings (by methods manual, and by softwares Dentofacial Planner Plus and Dolphin Image) with the post surgical results. Were selected the pre and post surgical lateral telerradiograph (six months after orthognatic surgery) of the 25 long face patients treated with combined orthognatic surgery. Were made the prediction tracings for each method and comparing cephalometrically with the post surgical results. This protocol was repeated once more for the error method evaluation, and the statistical was made by variance analysis and Tuckey overtest. The results show more frequency of the cephalometric values' aproximation of the post surgical results when the manual method (50% of the similarity with the post surgical result), followed of the DFPlus (31,2%) and Dolphin (18,8%) softwares. The experimental condition permits to conclude that the manual method had more precision, although the previsibility of the digital methods was reasonable satisfactory.

An study on ear detection and its applications to face detection

[EN]OpenCV includes di erent object detectors based on the Viola-Jones framework. Most of them are specialized to deal with the frontal face pattern and its inner elements: eyes, nose, and mouth. In this paper, we focus on the ear pattern detection, particularly when a head pro le or almost pro le view is present in the image. We aim at creating real-time ear detectors based on the general object detection framework provided with OpenCV. After training classi ers to detect left ears, right ears, and ears in general, the performance achieved is valid to be used to feed not only a head pose estimation system but also other applications such as those based on ear biometrics.

Aproximação facial forense: relação entre as estruturas ósseas e a porção inferior do nariz

Este trabalho teve o propósito de avaliar a relação entre a cartilagem alar e a abertura piriforme a partir de imagens de tomografia computadorizada cone-beam e a relação do nariz com o padrão esquelético vertical da face. A pesquisa foi realizada com 96 imagens de indivíduos de ambos os sexos (49 masculino e 47 feminino), com idades entre 18 e 65 anos classificados de acordo com sua tipologia facial. Para a realização das marcações e mensurações de interesse foi utilizado o software OsiriX. A tipologia facial foi acessada através de três metodologias: índice facial, ângulo goníaco e proporção entre as alturas faciais. No corte axial da imagem de tomografia computadorizada, foram aferidas quatro grandezas lineares: largura do nariz externo, distância entre as inserções alares, extensão da base da abertura piriforme e máxima largura da abertura piriforme. Todas as grandezas foram mensuradas por dois examinadores em concordância. A análise dos resultados obtidos mostrou que há correlação entre as larguras do nariz externo e da abertura piriforme e entre a base da cavidade nasal e a distância entre as inserções alares. A largura da abertura piriforme aumenta proporcionalmente mais que a do nariz. Além disso, a tipologia facial longa associa-se à largura nasal.

Diagnostic performance of &supl;⁸F-fluorodeoxyglucose positron emission tomography in giant cell arteritis: a systematic review and meta-analysis.

PURPOSE: The aim of this study was to conduct a systematic review and perform a meta-analysis on the diagnostic performances of (18)F-fluorodeoxyglucose positron emission tomography (FDG PET) for giant cell arteritis (GCA), with or without polymyalgia rheumatica (PMR). METHODS: MEDLINE, Embase and the Cochrane Library were searched for articles in English that evaluated FDG PET in GCA or PMR. All complete studies were reviewed and qualitatively analysed. Studies that fulfilled the three following criteria were included in a meta-analysis: (1) FDG PET used as a diagnostic tool for GCA and PMR; (2) American College of Rheumatology and Healey criteria used as the reference standard for the diagnosis of GCA and PMR, respectively; and (3) the use of a control group. RESULTS: We found 14 complete articles. A smooth linear or long segmental pattern of FDG uptake in the aorta and its main branches seems to be a characteristic pattern of GCA. Vessel uptake that was superior to liver uptake was considered an efficient marker for vasculitis. The meta-analysis of six selected studies (101 vasculitis and 182 controls) provided the following results: sensitivity 0.80 [95% confidence interval (CI) 0.63-0.91], specificity 0.89 (95% CI 0.78-0.94), positive predictive value 0.85 (95% CI 0.62-0.95), negative predictive value 0.88 (95% CI 0.72-0.95), positive likelihood ratio 6.73 (95% CI 3.55-12.77), negative likelihood ratio 0.25 (95% CI 0.13-0.46) and accuracy 0.84 (95% CI 0.76-0.90). CONCLUSION: We found overall valuable diagnostic performances for FDG PET against reference criteria. Standardized FDG uptake criteria are needed to optimize these diagnostic performances.

Infrastructure and nation building: The regulation and financing of network transportation infrastructures in Spain (1720-2010)

This paper analyzes Spanish infrastructure policy since the early 1700s: Road building in the eighteenth century, railway creation and expansion in the nineteenth, motorway expansion in the twentieth, and high speed rail development in the twenty-first. The analysis reveals a long-term pattern, in which infrastructure policy in Spain has been driven not by the requirements of commerce and economic activity, but rather by the desire to centralize transportation around the country’s political capital.

An optimized ERP brain–computer interface based on facial expression changes

Objective. Interferences from spatially adjacent non-target stimuli are known to evoke event-related potentials (ERPs) during non-target flashes and, therefore, lead to false positives. This phenomenon was commonly seen in visual attention-based brain–computer interfaces (BCIs) using conspicuous stimuli and is known to adversely affect the performance of BCI systems. Although users try to focus on the target stimulus, they cannot help but be affected by conspicuous changes of the stimuli (such as flashes or presenting images) which were adjacent to the target stimulus. Furthermore, subjects have reported that conspicuous stimuli made them tired and annoyed. In view of this, the aim of this study was to reduce adjacent interference, annoyance and fatigue using a new stimulus presentation pattern based upon facial expression changes. Our goal was not to design a new pattern which could evoke larger ERPs than the face pattern, but to design a new pattern which could reduce adjacent interference, annoyance and fatigue, and evoke ERPs as good as those observed during the face pattern. Approach. Positive facial expressions could be changed to negative facial expressions by minor changes to the original facial image. Although the changes are minor, the contrast is big enough to evoke strong ERPs. In this paper, a facial expression change pattern between positive and negative facial expressions was used to attempt to minimize interference effects. This was compared against two different conditions, a shuffled pattern containing the same shapes and colours as the facial expression change pattern, but without the semantic content associated with a change in expression, and a face versus no face pattern. Comparisons were made in terms of classification accuracy and information transfer rate as well as user supplied subjective measures. Main results. The results showed that interferences from adjacent stimuli, annoyance and the fatigue experienced by the subjects could be reduced significantly (p < 0.05) by using the facial expression change patterns in comparison with the face pattern. The offline results show that the classification accuracy of the facial expression change pattern was significantly better than that of the shuffled pattern (p < 0.05) and the face pattern (p < 0.05). Significance. The facial expression change pattern presented in this paper reduced interference from adjacent stimuli and decreased the fatigue and annoyance experienced by BCI users significantly (p < 0.05) compared to the face pattern.

An optimized ERP Brain-computer interface based on facial expression changes

OBJECTIVE: Interferences from spatially adjacent non-target stimuli are known to evoke event-related potentials (ERPs) during non-target flashes and, therefore, lead to false positives. This phenomenon was commonly seen in visual attention-based brain-computer interfaces (BCIs) using conspicuous stimuli and is known to adversely affect the performance of BCI systems. Although users try to focus on the target stimulus, they cannot help but be affected by conspicuous changes of the stimuli (such as flashes or presenting images) which were adjacent to the target stimulus. Furthermore, subjects have reported that conspicuous stimuli made them tired and annoyed. In view of this, the aim of this study was to reduce adjacent interference, annoyance and fatigue using a new stimulus presentation pattern based upon facial expression changes. Our goal was not to design a new pattern which could evoke larger ERPs than the face pattern, but to design a new pattern which could reduce adjacent interference, annoyance and fatigue, and evoke ERPs as good as those observed during the face pattern. APPROACH: Positive facial expressions could be changed to negative facial expressions by minor changes to the original facial image. Although the changes are minor, the contrast is big enough to evoke strong ERPs. In this paper, a facial expression change pattern between positive and negative facial expressions was used to attempt to minimize interference effects. This was compared against two different conditions, a shuffled pattern containing the same shapes and colours as the facial expression change pattern, but without the semantic content associated with a change in expression, and a face versus no face pattern. Comparisons were made in terms of classification accuracy and information transfer rate as well as user supplied subjective measures. MAIN RESULTS: The results showed that interferences from adjacent stimuli, annoyance and the fatigue experienced by the subjects could be reduced significantly (p < 0.05) by using the facial expression change patterns in comparison with the face pattern. The offline results show that the classification accuracy of the facial expression change pattern was significantly better than that of the shuffled pattern (p < 0.05) and the face pattern (p < 0.05). SIGNIFICANCE: The facial expression change pattern presented in this paper reduced interference from adjacent stimuli and decreased the fatigue and annoyance experienced by BCI users significantly (p < 0.05) compared to the face pattern.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (MAPT). Mutation screening of MAPT in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p< 10(25)). Conclusion: Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.

NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc.

(Table 1) Summary of general lithology in IODP Exp302 cores

The Cenozoic ice-rafted debris (IRD) history of the central Arctic is reconstructed utilizing the terrigenous coarse sand fraction in IODP 302 cores from 0 to 273 meters composite depth. This Holocene - middle Eocene quantitative record of terrigenous sand accumulation on the Lomonosov Ridge, along with qualitative information on grain texture and composition, confirms the interpretation that ice initiation (sea ice and glacial ice) occurred ~46 Ma in the Arctic, and provides a long-term pattern of Arctic ice expansion and decay since the middle Eocene. IRD mass accumulation rates range from 0 to 0.13 g/cm2/ka in the middle Eocene and from 0 to 0.36 g/cm2/ka in the Neogene. IRD mass accumulation rate (MAR) maxima in the Miocene and Pliocene cooccur with either glacial initiation or intensification in the sub-Arctic. The 46.25 Ma IRD onset in the central Arctic slightly precedes the earliest evidence of ice in the Antarctic, and compares in timing with a >1000 ppm decrease in atmospheric concentrations of CO2. The decline of pCO2 in the middle Eocene may have driven both poles across the temperature threshold that enabled the nucleation of glaciers on land and partial freezing of the surface Arctic Ocean, especially during times of low insolation.

High-resolution marine record of sediment core MD99-2343 in the Balearic Sea

The IMAGES core MD99-2343, recovered from a sediment drift north of the island of Minorca, in the north-western Mediterranean Sea, holds a high-resolution sequence that is perfectly suited to study the oscillations of the overturning system of the Western Mediterranean Deep Water (WMDW). Detailed analysis of grain-size and bulk geochemical composition reveals the sensitivity of this region to climate changes at both orbital and centennial-millennial temporal scales during the last 50 kyr. The dominant orbital pattern in the K/Al record indicates that sediment supply to the basin was controlled by the insolation evolution at 40°N, which forced changes in the fluvial regime, with more efficient sediment transport during insolation maxima. This orbital control also modulated the long-term pattern of the WMDW intensity as illustrated by the silt/clay ratio. However, deep convection was particularly sensitive to climatic changes at shorter time-scales, i.e. to centennial-millennial glacial and Holocene oscillations that are well documented by all the paleocurrent intensity proxies (Si/Al, Ti/Al and silt/clay ratios). Benthic isotopic records (d13C and d18O) show a Dansgaard-Oeschger (D-O) pattern of variability of WMDW properties, which can be associated with changing intensities of the deep currents system. The most prominent reduction on the WMDW overturning was caused by the post-glacial sea level rise. Three main scenarios of WMDW overturning are revealed: a strong mode during D-O Stadials, a weak mode during D-O Interstadials and an intermediate mode during cooling transitions. In addition, D-O Stadials associated with Heinrich events (HEs) have a very distinct signature as the strong mode of circulation, typical for the other D-O Stadials, was never reached during HE due to the surface freshening induced by the inflowing polar waters. Consequently, the WMDW overturning system oscillated around the intermediate mode of circulation during HE. Though surface conditions were more stable during the Holocene, the WMDW overturning cell still reacted synchronously to short-lived events, as shown by increments in the planktonic d18O record, triggering quick reinforcements of the deep water circulation. Overall, these results highlight the sensitivity of the WMDW to rapid climate change which in the recent past were likely induced by oceanographic and atmospheric reorganizations in the North Atlantic region.