A systematic review of Gamma-aminobutyric Acid Receptor Type B autoimmunity

Objective. To review the available research to describe the clinical characteristics and neoplastic associations of patients with gamma-aminobutyric acid receptor type B (GABAB-R) autoantibodies. Methods. Literature was reviewed on PubMed, Mendeley literature search, and the American Academy of Neurology database for articles published from June 2008 to October of 2018 using a variety of key words. These key words include: „gamma-aminobutyric acid seizures,” „gamma-aminobutyric acid limbic encephalitis”, „GABA(B) receptor antibodies,” „autoimmune encephalitis,” „autoimmune epilepsy,” „GABA(B) encephalitis, „ and “GABA paraneoplastic.” With the results, the papers were reviewed in a systematic manner. Results. A total of 10 studies were reviewed. A summary of the demographic, clinical, and serological findings of the cases detailed in the literature are provided. An additional illustrative case is described. In total, 94 patients were reviewed. Conclusions. GABAB-R autoimmune disease is characterized by refractory seizures or status epilepticus and frequent association with small cell lung cancer. Additionally, a substantial minority of patients have non-inflammatory CSF.

Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report

<p>Abstract</p> <p>Introduction</p> <p>Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-limiting genetic disorder. This group of disorders is generally considered to be a pediatric muscular dystrophy when in actual fact, this case report may represent a spectrum of subclinically affected adults.</p> <p>Case presentation</p> <p>We present the diagnostic saga of a 34-year-old Caucasian man who had two liver biopsies for elevated liver enzymes and 16 years later presented with a cardiac arrhythmia amidst an emergent appendectomy which finally led to his specific genetic diagnosis.</p> <p>Conclusions</p> <p>This genetic disorder can affect more than one organ, and in our patient affected both skeletal and cardiac muscle. Furthermore, liver function tests when elevated may erroneously implicate a liver disorder when they actually reflect cardiac and skeletal muscle origin. Presented here is a patient with Becker's muscular dystrophy and cardiomyopathy.</p

First report of generalized face processing difficulties in möbius sequence.

Reverse simulation models of facial expression recognition suggest that we recognize the emotions of others by running implicit motor programmes responsible for the production of that expression. Previous work has tested this theory by examining facial expression recognition in participants with Möbius sequence, a condition characterized by congenital bilateral facial paralysis. However, a mixed pattern of findings has emerged, and it has not yet been tested whether these individuals can imagine facial expressions, a process also hypothesized to be underpinned by proprioceptive feedback from the face. We investigated this issue by examining expression recognition and imagery in six participants with Möbius sequence, and also carried out tests assessing facial identity and object recognition, as well as basic visual processing. While five of the six participants presented with expression recognition impairments, only one was impaired at the imagery of facial expressions. Further, five participants presented with other difficulties in the recognition of facial identity or objects, or in lower-level visual processing. We discuss the implications of our findings for the reverse simulation model, and suggest that facial identity recognition impairments may be more severe in the condition than has previously been noted

Is gender encoded in the smile? A computational framework for the analysis of the smile driven dynamic face for gender recognition

YesAutomatic gender classification has become a topic of great interest to the visual computing research community in recent times. This is due to the fact that computer-based automatic gender recognition has multiple applications including, but not limited to, face perception, age, ethnicity, identity analysis, video surveillance and smart human computer interaction. In this paper, we discuss a machine learning approach for efficient identification of gender purely from the dynamics of a person’s smile. Thus, we show that the complex dynamics of a smile on someone’s face bear much relation to the person’s gender. To do this, we first formulate a computational framework that captures the dynamic characteristics of a smile. Our dynamic framework measures changes in the face during a smile using a set of spatial features on the overall face, the area of the mouth, the geometric flow around prominent parts of the face and a set of intrinsic features based on the dynamic geometry of the face. This enables us to extract 210 distinct dynamic smile parameters which form as the contributing features for machine learning. For machine classification, we have utilised both the Support Vector Machine and the k-Nearest Neighbour algorithms. To verify the accuracy of our approach, we have tested our algorithms on two databases, namely the CK+ and the MUG, consisting of a total of 109 subjects. As a result, using the k-NN algorithm, along with tenfold cross validation, for example, we achieve an accurate gender classification rate of over 85%. Hence, through the methodology we present here, we establish proof of the existence of strong indicators of gender dimorphism, purely in the dynamics of a person’s smile

How to Do Things Without Words: Infants, utterance-activity and distributed cognition

Clark and Chalmers (1998) defend the hypothesis of an ‘Extended Mind’, maintaining that beliefs and other paradigmatic mental states can be implemented outside the central nervous system or body. Aspects of the problem of ‘language acquisition’ are considered in the light of the extended mind hypothesis. Rather than ‘language’ as typically understood, the object of study is something called ‘utterance-activity’, a term of art intended to refer to the full range of kinetic and prosodic features of the on-line behaviour of interacting humans. It is argued that utterance activity is plausibly regarded as jointly controlled by the embodied activity of interacting people, and that it contributes to the control of their behaviour. By means of specific examples it is suggested that this complex joint control facilitates easier learning of at least some features of language. This in turn suggests a striking form of the extended mind, in which infants’ cognitive powers are augmented by those of the people with whom they interact

Emotional responses to irony and emoticons in written language: evidence from EDA and facial EMG

While the basic nature of irony is saying one thing and communicating the opposite, it may also serve additional social and emotional functions, such as projecting humour or anger. Emoticons often accompany irony in computer-mediated communication, and have been suggested to increase enjoyment of communication. In the current study, we aimed to examine on-line emotional responses to ironic vs. literal comments, and the influence of emoticons on this process. Participants read stories with a final comment that was either ironic or literal, praising or critical, and with or without an emoticon. We used psychophysiological measures to capture immediate emotional responses: electrodermal activity to directly measure arousal, and facial electromyography to detect muscle movements indicative of emotional expressions. Results showed higher arousal, reduced frowning, and enhanced smiling for messages with rather than without an emoticon, suggesting that emoticons increase positive emotions. A tendency towards less negative responses (i.e., reduced frowning and enhanced smiling) for ironic than literal criticism, and less positive responses (i.e., enhanced frowning and reduced smiling) for ironic than literal praise suggests that irony weakens the emotional impact of a message. The present findings indicate the utility of a psychophysiological approach in studying on-line emotional responses to written language

An IP-10 (CXCL10)-derived peptide inhibits angiogenesis

Angiogenesis plays a critical role in processes such as organ development, wound healing, and tumor growth. It requires well-orchestrated integration of soluble and matrix factors and timely recognition of such signals to regulate this process. Previous work has shown that newly forming vessels express the chemokine receptor CXC receptor 3 (CXCR3) and, activation by its ligand IP-10 (CXCL10), both inhibits development of new vasculature and causes regression of newly formed vessels. To identify and develop new therapeutic agents to limit or reverse pathological angiogenesis, we identified a 21 amino acid fragment of IP-10, spanning the α-helical domain residues 77-98, that mimic the actions of the whole IP-10 molecule on endothelial cells. Treatment of the endothelial cells with the 22 amino acid fragment referred to as IP-10p significantly inhibited VEGF-induced endothelial motility and tube formation in vitro, properties critical for angiogenesis. Using a Matrigel plug assay in vivo, we demonstrate that IP-10p both prevented vessel formation and induced involution of nascent vessels. CXCR3 neutralizing antibody was able to block the inhibitory effects of the IP-10p, demonstrating specificity of the peptide. Inhibition of endothelial function by IP-10p was similar to that described for IP-10, secondary to CXCR3-mediated increase in cAMP production, activation of PKA inhibiting cell migration, and inhibition of VEGF-mediated m-calpain activation. IP-10p provides a novel therapeutic agent that inhibits endothelial cell function thus, allowing for the modulation of angiogenesis. © 2012 Yates-Binder et al

Negative emotional responses elicited by the anticipation of pain in others: Psychophysiological evidence

Limited evidence is available about factors influencing observers' anticipatory emotional responses to another's pain. We investigated fear and distress towards the threat of pain in others, and the moderating role of observers' psychopathic traits and catastrophizing about their own or others' pain. Thirty-six dyads of healthy participants were randomly assigned to either the role of observer or observed participant. Both participants were instructed that 1 colored slide (blue or yellow) signalled that a pain stimulus could possibly be delivered to the observed participant (=pain signal), whereas no pain stimulus would be delivered when a differently colored slide was presented (=safety signal). Observers' self-reported fear, fear-potentiated startle, and corrugator electromyography activity during pain and safety signals were measured. Furthermore, observers rated the presence of pain after each trial allowing assessment of observers' perceptual sensitivity to others' pain. Results indicated that self-reported fear, fear-potentiated startle, and corrugator electromyography activity were augmented during pain signals compared to safety signals. Moreover, these negative emotional responses were heightened in observers highly catastrophizing about others' pain, but reduced in observers with heightened psychopathic traits. Psychopathic traits were also related with a diminished perceptual sensitivity to others' pain. The results are discussed in light of affective-motivational perspectives on pain. Perspective: This study investigated observers' negative emotional responses in anticipation of pain in another, and the moderating role of observers' psychopathic traits and pain catastrophizing. Knowledge about characteristics influencing observers' emotional response to others' pain may provide insight into why observers engage in particular behaviors when faced with another in pain. &copy; 2012 by the American Pain Society