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.

3D face computational photography using PCA spaces

In this paper, we present a 3D face photography system based on a facial expression training dataset, composed of both facial range images (3D geometry) and facial texture (2D photography). The proposed system allows one to obtain a 3D geometry representation of a given face provided as a 2D photography, which undergoes a series of transformations through the texture and geometry spaces estimated. In the training phase of the system, the facial landmarks are obtained by an active shape model (ASM) extracted from the 2D gray-level photography. Principal components analysis (PCA) is then used to represent the face dataset, thus defining an orthonormal basis of texture and another of geometry. In the reconstruction phase, an input is given by a face image to which the ASM is matched. The extracted facial landmarks and the face image are fed to the PCA basis transform, and a 3D version of the 2D input image is built. Experimental tests using a new dataset of 70 facial expressions belonging to ten subjects as training set show rapid reconstructed 3D faces which maintain spatial coherence similar to the human perception, thus corroborating the efficiency and the applicability of the proposed system.

Functional and Structural Connectivity Between the Perigenual Anterior Cingulate and Amygdala in Bipolar Disorder

Objective: Abnormalities in the morphology and function of two gray matter structures central to emotional processing, the perigenual anterior cingulate cortex (pACC) and amygdala, have consistently been reported in bipolar disorder (BD). Evidence implicates abnormalities in their connectivity in BD. This study investigates the potential disruptions in pACC-amygdala functional connectivity and associated abnormalities in white matter that provides structural connections between the two brain regions in BD. Methods: Thirty-three individuals with BD and 31 healthy comparison subjects (HC) participated in a scanning session during which functional magnetic resonance imaging (fMRI) during processing of face stimuli and diffusion tensor imaging (DTI) were performed. The strength of pACC-amygdala functional connections was compared between BD and HC groups, and associations between these functional connectivity measures from the fMRI scans and regional fractional anisotropy (FA) from the DTI scans were assessed. Results: Functional connectivity was decreased between the pACC and amygdala in the BD group compared with HC group, during the processing of fearful and happy faces (p < .005). Moreover, a significant positive association between pACC-amygdala functional coupling and FA in ventrofrontal white matter, including the region of the uncinate fasciculus, was identified (p < .005). Conclusion: This study provides evidence for abnormalities in pACC-amygdala functional connectivity during emotional processing in BD. The significant association between pACC-amygdala functional connectivity and the structural integrity of white matter that contains pACC-amygdala connections suggest that disruptions in white matter connectivity may contribute to disturbances in the coordinated responses of the pACC and amygdala during emotional processing in BD.

A New Approach to the Prediction of Partition Coefficients in Water/Organic Interfaces

In the present work, a new approach for the determination of the partition coefficient in different interfaces based on the density function theory is proposed. Our results for log P(ow) considering a n-octanol/water interface for a large super cell for acetone -0.30 (-0.24) and methane 0.95 (0.78) are comparable with the experimental data given in parenthesis. We believe that these differences are mainly related to the absence of van der Walls interactions and the limited number of molecules considered in the super cell. The numerical deviations are smaller than that observed for interpolation based tools. As the proposed model is parameter free, it is not limited to the n-octanol/water interface.

Amperometric detection of benzoyl peroxide in pharmaceutical preparations using carbon paste electrodes with peroxidases naturally immobilized on coconut fibers

This paper describes the applications of anew carbon paste electrode containing fibers of coconut (Cocus nucifera L) fruit, which are very rich in peroxidase enzymes naturally immobilized on its structure. The new sensor was applied for the amperometric quantification of benzoyl peroxide in facial creams and dermatological shampoos. The amperometric measurements were performed in 0.1 mol L(-1) phosphate buffer (pH 5.2), at 0.0 V (versus Ag/AgCl). On these conditions, benzoyl peroxide was rapidly determined in the 5.0-55 mu mol L(-1), with a detection limit of 2.5 mu mol L(-1) (s/n = 3), response time of 4.1 s (90% of the steady state) and sensitivity limit of 0.33 A mol L(-1) cm(-2). The amperometric results are in good agreement with those obtained by spectrophotometric technique, used as a standard method. (C) 2009 Elsevier B.V. All rights reserved.

Studies on chemo- and diastereo-selectivity of the Diels-Alder reactions of sulfinyltoluquinones with cyclopentadiene

Sulfinyltoluquinones (2a-2c) were submitted to thermal or catalyzed [4+2] cycloaddition reactions with cyclopentadiene. For p-tolylsulfinyltoluquinones (2b) and (2c), almost complete C2-C3-chemo- and unlike-diastereoselectivity was achieved by catalysis with ZnBr(2), yielding adducts 6. Under thermal conditions, Diels-Alder reaction took place at the C5-C6 double bonds of quinones 2a-2c, generating mixtures of diastereoisomeric like- and unlike-adducts 4.

Students’ Role in Distance Learning

1. IntroductionMuch of the support that students have in a traditional classroom is absent in a distance learning course. In the traditional classroom, the learner is together with his or her classmates and the teacher; learning is socially embedded. Students can talk to each other and may learn from each other as they go through the learning process together. They also witness the teacher’s expression of the knowledge firsthand. The class participants communicate to each other not only through their words, but also through their gestures, facial expressions and tone of voice, and the teacher can observe the students’ progress and provide guidance and feedback in an as-needed basis. Further, through the habit of meeting in a regular place at a regular time, the participants reinforce their own and each other’s commitment to the course. A distance course must somehow provide learners other kinds of supports so that the distance learner also has a sense of connection with a learning community; can benefit from interaction with peers who are going through a similar learning process; receives feedback that allows him or her to know how he or she is progressing; and is guided enough so that he or she continues to progress towards the learning objectives. This cannot be accomplished if the distance course does not simultaneously promote student autonomy, for the distance course format requires students to take greater responsibility for their own learning. This chapter presents one distance learning course that was able to address all of these goals. The English Department at Högskolan Dalarna, Sweden, participates in a distance learning program with Vietnam National University. Students enrolled in this program study half-time for two years to complete a Master’s degree in English Linguistics. The distance courses in this program all contain two types of regular class meetings: one type is student-only seminars conducted through text chat, during which students discuss and complete assignments that prepare them for the other type of class meeting, also conducted through text chat, where the teacher is present and is the one to lead the discussion of seminar issues and assignments. The inclusion of student-only seminars in the course design allows for student independence while at the same time it encourages co-operation and solidarity. The teacher-led seminars offer the advantages of a class led by an expert.In this chapter, we present chatlog data from Vietnamese students in one distance course in English linguistics, comparing the role of the student in both student-only and teacher-led seminars. We discuss how students navigate their participation roles, through computer-mediated communication (CMC), according to seminar type, and we consider the emerging role of the autonomous student in the foreign-language medium, distance learning environment. We close by considering aspects of effective design of distance learning courses from the perspective of a foreign language (FL) environment.

La risa en los Chistes de Facebook

People tell jokes in order to amuse and produce laughter. It is possible to represent laughter in the cyberspace discourse by writing how it sounds or by using a representation of a facial expression formed by various combinations of keyboard characters called emoticon. Jokes are appreciated by both men and women in our society but is there any difference between the way they represent laughter in the cyberspace discourse? In this research, we use the qualitative and quantitative method. First, we analyze the mechanism of linguistic construction of five jokes and their types and techniques based on Freud’s theory about this subject. Then we present the reactions produced by the jokes found in a social network and focus in the written representation of the laughter. The results show us that more women than men react to the jokes by writing a comment. The most popular laughter used by both men and women in a Spanish social network is "jajajaja" and the emoticon "XD". We have also found that people use the international laughter "hahahaha" and more women than men use "jejeje" to represent laughter in the same network. Although each individual has a laughter style, the way people represent the laughter graphically in the cyberspace discourse is almost the same between men and women but it differs in the way they use them as a reaction to the type and technique of the joke.

A comparison of Australian and Malaysian views on the use of biometric devices in everyday situations

Since the September 11, 2001 terrorist attacks in New York City, many countries including Australia and Malaysia have been able to justify the use biometric devices such as finger print scans, retina scans and facial recognition for identification and surveillance of its citizens and others in the name of national security. In addition, biometric devices are increasingly being used worldwide by organizations to keep track of their employees and their productivity, leading to concerns of privacy, the safety, reliability, abuse and misuse of the data collected and violations of civil liberties. Taking the critical theory perspective, this paper will analyse the data collected and report on the findings of a survey carried out in Australia and Malaysia, with respect to the responses provided and opinions expressed to the survey s open ended and other questions
by individuals as to their current use, experiences, preferences, concerns about the devices and the situations in which they think biometric devices should be used, including in their workplaces. This descriptive study uses both quantitative and qualitative data to examine what Australians and Malaysians think about the use of biometric devices in everyday situtions
and compare them as to their similarities and differences. The paper will then critically examine the ethical and civil liberties issues involved in the use of biometric devices in everyday life and argues that regulatory and legal measures should be taken to safeguard the rights of citizens while maintaining national security and productivity, in order to avoid the situation of Michel Foucaults Panopticon becoming an unpleasant everyday reality, which could negatively irifluence socialjustice and create social change due to its effects on individuals in two multicultural societies. The paper will argue about the need to educate the general public as to the issues of surveillance and privacy involved in the use of biometric devices in everyday situations.

A comparative analysis of opinions of Americans, Australians and Malaysians on the use of biometric devices in workplaces for security and monitoring of worker productivity

Since the September 11, 2001 terrorist attacks in New York, the use of biometric devices such as fingerprint scans, retina and iris scans and facial recognition in everyday situations for national security and border control, have become commonplace. This has resulted in the biometric industry moving from being a niche technology to one that is ubiquitous. As a result. more and more employers are using biometrics to secure staff access to their facilities as well as for tracking staff work hours, maintaining 'discipline' and carry out surveillance against thefts. detecting work hour abuses and fraud. However, the data thus collected and the technologies themselves are feared of having the potential for and actually being misused - both in terms of the violating staff privacy and discrimination and oppression of targeted workers. This paper examines the issue of using biometric devices in organisational settings their advantages, disadvantages and actual and potential abuses from the point of view of critical theory. From the perspectives of Panoptic surveillance and hegemonic organisational control, the paper examines the issues related to privacy and identification, biometrics and privacy, biometrics and the 'body', and surveillance and modernity. The paper also examines the findings ofa survey carried out in Australia. Malaysia and the USA on respondents' opinions on the use of biometric devices in everyday life including at workplaces. The paper concludes that along with their applications in border control and national security, the use of biometric devices should be covered by relevant laws and regulations. guidelines and codes of practice. in order to balance the rights to privacy and civil liberties of workers with employers' need for improved productivity, reduced costs, safeguards related to occupational health and safety, equal opportunity, and workplace harassment of staff and other matters, that employers are legally responsible for.

Faceparts for recognition

A facial classification system that utilises images of faceparts is presented in this paper. Each facepart region is allocated a degree of importance. The random forests approach is employed for classification. The approach grows many classification trees where each tree gives a classification decision. The forest selects the classification that gives the most votes. Experimental results are presented and discussed

A virtual salesperson

This chapter describes the use of a graphical humane interface - a Virtual Salesperson. The face of the Virtual Salesperson is a generic Facial Animation Engine developed at the University of Genova in Italy and uses a 3-D computer graphics model based on the MPEG-4 standard supplemented by Cyberware scans for facial detail. The appearance of the head may be modified by Facial Definition Parameters to more accurately model the required visage allowing one model to represent many different Talking Heads. The “brain” of the Virtual Salesperson, developed at Curtin University, integrates natural language parsing, text to speech synthesis, and artificial intelligence systems to produce a “bot” capable of helping a user through a question/answer sales enquiry. The Virtual Salesperson is a specific example of a generic Human Computer Interface - a Talking Head.

Consumers' evaluation of free service trial offers

Largely unexplored, a free service trial may be defined as an offer to the consumer to experience, at no monetary cost, all or part of a core, augmented or facilitating service from a provider that the consumer does not currently use. Free service trials are worth studying for two reasons. First they are one of the important examples of inequitable exchange between supplier and purchaser – one that is likely to lead to a sense of obligation among those who adopt the trial offer. Second, they are a very common promotional device. This paper proposes that free service trials are more problematic than tangible product trials. The value of what is offered may be limited by time, the scope of trial, or because only a partial, facilitating or augmented service is offered. Judgments about the perceived value of the complete service in its paid form will also contribute to the evaluation of the trial offer. In deciding whether they accept the trial, the paper proposes that consumers make attributions about the motives of the service trial provider and the consumer’s consequent obligations if they accept it. Obligations are likely to be felt more acutely where the trial is interpersonal (e.g. a facial massage) rather than impersonal (e.g. anti-virus service). Such evaluations are also likely to be affected by past experience with the service category, consumer skepticism and personal norms of reciprocity. A program of research is proposed which would systematically examine the consumers’ evaluations of free trial offers.

Helmets for preventing injury in motorcycle riders

Background: Motorcycle crash victims form a high proportion of those killed or injured in road traffic accidents. Injuries to the head, following motorcycle crashes, are a common cause of severe morbidity and mortality. It seems intuitive that helmets should protect against head injuries but it has been argued that motorcycle helmet use decreases rider vision and increases neck injuries. This review will collate the 'current available evidence on helmets and their impact on mortality, and head, face and neck injuries following motorcycle crashes.

Objectives: To quantify the effectiveness of wearing a motorcycle helmet in reducing mortality and head and neck injury following motorcycle crashes.

Search strategy: Databases including the Cochrane Injuries Group Specialised Register, Cochrane Central Register of Controlled Trials (The Cochrane Library issue 1,2003), MEDLINE (January 1966 to February 2003), EMBASE (January 1985 to February 2003), CINAHL (January 1982 to February 2003), IRRD (International Road Research Documentation), TRANSDOC, TRIS (Transport Research Information Service), ATRI (Australian Transport Index) (1976 to Feb 2003), Science Citation Index were searched for relevant articles. Web sites of traffic and road accident research bodies including government agencies were also searched. Reference lists from topic reviews, identified studies and bibliographies were examined for relevant articles.

Selection criteria: We considered for inclusion studies that investigated a population of motorcycle riders who had crashed, examining helmet use as an intervention and with outcomes that included one or more of the following: death, head, neck or facial injury. Studies included any that compared an intervention and control group and, therefore, included any randomised controlled trials, non-randomised controlled trials, cohort, case-control and cross-sectional studies. Ecological and case series studies were excluded.

Data collection and analysis: Two reviewers independently screened reference lists for eligible articles. Two reviewers independently assessed articles for inclusion criteria. Data were abstracted by two independent reviewers using a standard abstraction form.

Main results: Fifty-three observational studies were identified of varying quality. Despite methodological differences there was a remarkable consistency in results, particularly for mortality and head injury outcomes. Motorcycle helmets appear to reduce the risk of mortality although, due to heterogeneity in study design, an overall estimate of effect was not calculated. There was some evidence that the effect of helmets on mortality is modified by speed. Motorcycle helmets were found to reduce the risk of head injury and from five well-conducted studies the risk reduction is estimated to be 72% (OR 0.28, 95%CI 0.23,0.35). Insufficient evidence was found to estimate the effect of motorcycle helmets compared with no helmet on facial or neck injuries. However, studies of poorer quality suggest that helmets have no effect on the risk of neck injuries and are protective for facial injury. There was insufficient evidence to demonstrate whether differences in helmet type confer more or less advantage in injury reduction.

Conclusions: Motorcycle helmets reduce the risk of mortality and head injury in motorcycle riders who crash, although the former effect may be modified by other crash factors such as speed. Further well-conducted research is required to determine the effects of helmets and different helmet types on mortalIty, head, neck and facial injuries. However, the findings suggest that global efforts to reduce road traffic injuries may be facilitated by increasing helmet use by motorcyclists.

What do general practitioners think depression is? A taxonomy of distress and depression for general practice

Objective:
To create a taxonomy of distress and depression for use in primary care, that mirrors the thinking and practice of experienced general practitioners.

Design:
Qualitative study, using an ethnomethodological approach, with observation of videotaped routine GP–patient consultations and in-depth interviews with GPs.

Setting and participants:
The study was conducted in metropolitan Melbourne in 2005. Fourteen GPs conducted 36 patient consultations where depression was a focus; nine GPs participated in in-depth interviews to elicit details of how they recognised and diagnosed depression in their patients.

Results:
GPs consider distress and depression in three steps. In the first step, a change in a group of symptoms and signs is observed (eg, facial expression, loss of drive). The second step categorises the syndrome according to whether or not there is an identifiable environmental cause (reactive or “endogenous”), with the final step categorising the reactive syndromes according to their most prominent symptoms: either anxiety and worry, or helplessness and hopelessness. The resulting taxonomy includes: endogenous depression (a chronic and perhaps characterological depression characterised by a lack of interest and motivation); anxious depressive reaction (stress or worry); and hopeless depressive reaction (demoralisation).

Conclusion:
This simple and parsimonious taxonomy has validity based on its derivation from within the primary care setting.