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https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#1
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28633887/visual-integration-of-fear-and-anger-emotional-cues-by-children-on-the-autism-spectrum-and-neurotypical-peers-an-eeg-study
#2
Evie Malaia, Debbie Cockerham, Katherine Rublein
Communication deficits in children with autism spectrum disorders (ASD) are often related to inefficient interpretation of emotional cues, which are conveyed visually through both facial expressions and body language (Apicella et al., 2012). The present study examined ASD behavioral and ERP responses to emotional expressions of anger and fear, as conveyed by the face and body. Behavioral results showed significantly faster response times for the ASD than for the typically developing (TD) group when processing fear, but not anger, in isolated face expressions, isolated body expressions, and in the integration of the two...
June 17, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28630815/acquisition-and-generalization-of-complex-empathetic-responses-among-children-with-autism
#3
Paul J Argott, Dawn Buffington Townsend, Claire L Poulson
Empathy can be defined as a social interaction skill that consists of four components: (1) a statement voiced in the (2) appropriate intonation, accompanied by a (3) facial expression and (4) gesture that correspond to the affect of another individual. A multiple-baseline across response categories experimental design was used to evaluate the effectiveness of a prompt sequence (video modeling, in vivo modeling, manual and verbal prompting) and reinforcement to increase the frequency of complex empathetic responding by four children with autism...
June 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/28628681/changes-in-self-perceptions-of-photoaging-severity-and-skin-cancer-risk-after-objective-facial-skin-quality-analysis
#4
Yoon-Soo Cindy Bae, Edward Jong Bae, Joyce H Wang, Barbara A Gilchrest
<p>Background: Despite public education efforts, many people at risk for skin cancer do not practice safe sun behaviors.</p> <p>Objective: To determine whether machine-based evaluation of UV-induced alterations (VISIA scan) changes self-assessment of facial photoaging, skin cancer risk, and willingness to improve sun protective habits. In addition, to determine whether VISIA scan analysis reveals differences between those with versus without a history of skin cancer, men versus women, those older than 50 versus less than 50 years of age, and Fitzpatrick skin types I-III versus IV-VI...
May 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28627901/cone-of-gaze-in-positive-schizotypy-relationship-to-referential-thinking-and-social-functioning
#5
Heather M Wastler, Mark F Lenzenweger
Eye contact is an essential means of nonverbal communication, providing information about attention, emotion, mental state, facial expressions, and identity/gender (Itier & Batty, 2009). Although studies suggest that patients with schizophrenia endorse direct gaze more often than controls in ambiguous gaze circumstances, gaze perception in schizotypy remains unstudied. This study investigated whether individuals with positive schizotypic features incorrectly perceive that others are looking at them and whether this is related to referential thinking and psychosocial functioning...
June 19, 2017: Personality Disorders
https://www.readbyqxmd.com/read/28625658/enhancing-anger-perception-in-older-adults-by-stimulating-inferior-frontal-cortex-with-high-frequency-transcranial-random-noise-stimulation
#6
Tao Yang, Michael J Banissy
Extensive behavioural evidence has shown that older people have declined ability in facial emotion perception. Recent work has begun to examine the neural mechanism that contribute to this, and potential tools to support emotion perception during aging. The aim of this study was to investigate whether high frequency tRNS applied to the inferior frontal cortex would enhance facial expression perception in older adults. Healthy aged adults (60+ years) were randomly assigned to receive active high-frequency or sham tRNS targeted at bilateral inferior frontal cortices...
June 15, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28622546/the-semiology-of-febrile-seizures-focal-features-are-frequent
#7
Michihiko Takasu, Tetsuo Kubota, Takeshi Tsuji, Hirokazu Kurahashi, Shingo Numoto, Kazuyoshi Watanabe, Akihisa Okumura
OBJECTIVE: To clarify the semiology of febrile seizures (FS) and to determine the frequency of FS with symptoms suggestive of focal onset. METHODS: FS symptoms in children were reported within 24h of seizure onset by the parents using a structured questionnaire consisting principally of closed-ended questions. We focused on events at seizure commencement, including changes in behavior and facial expression, and ocular and oral symptoms. We also investigated the autonomic and motor symptoms developing during seizures...
June 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28622417/the-antimigraine-butterbur-ingredient-isopetasin-desensitises-peptidergic-nociceptors-via-the-transient-receptor-potential-ankyrin-1-channel
#8
Silvia Benemei, Francesco De Logu, Simone Li Puma, Ilaria Maddalena Marone, Elisabetta Coppi, Filippo Ugolini, Wolfgang Liedtke, Pollastro Federica, Giovanni Appendino, Pierangelo Geppetti, Serena Materazzi, Romina Nassini
BACKGROUND AND PURPOSE: The mechanism of the antimigraine action of butterbur [Petasites hybridus (L.) Gaertn.] is unknown. Here, we investigated the ability of isopetasin, a major butterbur constituent, to specifically target the transient receptor ankyrin 1 (TRPA1) channel and to affect functional responses relevant to migraine. EXPERIMENTAL APPROACH: Single cell calcium imaging and patch-clamp recordings in human and rodent TRPA1-expressing cells, neurogenic motor responses in isolated rat/mouse urinary bladder, release of calcitonin gene-related peptide (CGRP) from mouse spinal cord in vitro, and facial rubbing in mice and meningeal blood flow in rat were examined...
June 16, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28622282/towards-a-neurobiological-understanding-of-alexithymia
#9
REVIEW
Nicolás Meza-Concha, Marcelo Arancibia, Felicia Salas, Rosa Behar, Germán Salas, Hernán Silva, Rocío Escobar
Although the specialized literature on the etiology of alexithymia is controversial, neurobiological research has shown relevant advances. The aim of this review is to analyze the available evidence regarding the neurophysiological bases of alexithymia. A comprehensive review of available articles from Medline/PubMed, EBSCO and SciELO was conducted. Previously, alexithymia was linked to a reduced interhemispheric brain connection. From a childhood traumatic perspective, the right prefrontal cortex and the default mode network would experience alterations, first hypermetabolic (dopaminergic and glutamatergic dysregulation) and then hypometabolic-dissociative (serotonergic and opioid dysregulation), resulting in a distorted interoceptive and emotional awareness...
May 29, 2017: Medwave
https://www.readbyqxmd.com/read/28621704/sensitization-of-trpv1-and-trpa1-via-peripheral-mglur5-signaling-contributes-to-thermal-and-mechanical-hypersensitivity
#10
Kuniya Honda, Masamichi Shinoda, Masahiro Kondo, Kohei Shimizu, Hisashi Yonemoto, Katsuhiko Otsuki, Ryuta Akasaka, Akihiko Furukawa, Koichi Iwata
Peripheral tissue inflammation or injury causes glutamate release from nociceptive axons, keratinocytes and Schwann cells, resulting in thermal hypersensitivity. However, the detailed molecular mechanisms underlying glutamate-induced thermal hypersensitivity are unknown. The aim of this study was to clarify the involvement of peripheral transient receptor potential (TRP) ankyrin 1 (TRPA1), TRP vanilloid 1 (TRPV1) and protein kinase C epsilon (PKCε) in glutamate-induced pain hypersensitivity. The amount of glutamate in the facial tissue was significantly increased 3 days after facial CFA injection...
June 8, 2017: Pain
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#11
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28620278/revealing-the-dysfunction-of-schematic-facial-expression-processing-in-schizophrenia-a-comparative-study-of-different-references
#12
Shenglin She, Haijing Li, Yuping Ning, Jianjuan Ren, Zhangying Wu, Rongcheng Huang, Jingping Zhao, Qian Wang, Yingjun Zheng
The use of event-related potential (ERP) recording technology during perceptual and cognitive processing has been studied in order to develop objective diagnostic indexes for people with neuropsychiatric disorders. For example, patients with schizophrenia exhibit consistent abnormalities in face-evoked early components of ERPs and mismatch negativities (MMNs). In most studies, the choice of reference has been the average reference (AVE), but whether this is the most suitable choice is still unknown. The aim of this study was to systematically compare the AVE and reference electrode standardization technique (REST) methods for assessing expressional face-evoked early visual ERPs and visual MMNs (vMMNs) in patients with schizophrenia and healthy controls...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28619657/low-frequency-oscillations-employ-a-general-coding-of-the-spatio-temporal-similarity-of-dynamic-faces
#13
Nicholas Furl, Michael Lohse, Francesca Pizzorni-Ferrarese
Brain networks use neural oscillations as information transfer mechanisms. Although the face perception network in occipitotemporal cortex is well-studied, contributions of oscillations to face representation remain an open question. We tested for links between oscillatory responses that encode facial dimensions and the theoretical proposal that faces are encoded in similarity-based "face spaces". We quantified similarity-based encoding of dynamic faces in magnetoencephalographic sensor-level oscillatory power for identity, expression, physical and perceptual similarity of facial form and motion...
June 12, 2017: NeuroImage
https://www.readbyqxmd.com/read/28618856/psychosocial-stress-and-brain-function-in-adolescent-psychopathology
#14
Erin Burke Quinlan, Anna Cattrell, Tianye Jia, Eric Artiges, Tobias Banaschewski, Gareth Barker, Arun L W Bokde, Uli Bromberg, Christian Büchel, Rüdiger Brühl, Patricia J Conrod, Sylvane Desrivieres, Herta Flor, Vincent Frouin, Jürgen Gallinat, Hugh Garavan, Penny Gowland, Andreas Heinz, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Frauke Nees, Dimitri Papadopoulos-Orfanos, Tomáš Paus, Luise Poustka, Michael N Smolka, Nora C Vetter, Henrik Walter, Robert Whelan, Jeffrey C Glennon, Jan K Buitelaar, Francesca Happé, Eva Loth, Edward D Barker, Gunter Schumann
OBJECTIVE: The authors sought to explore how conduct, hyperactivity/inattention, and emotional symptoms are associated with neural reactivity to social-emotional stimuli, and the extent to which psychosocial stress modulates these relationships. METHOD: Participants were community adolescents recruited as part of the European IMAGEN study. Bilateral amygdala regions of interest were used to assess the relationship between the three symptom domains and functional MRI neural reactivity during passive viewing of dynamic angry and neutral facial expressions...
June 16, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28617825/concurrent-development-of-facial-identity-and-expression-discrimination
#15
Kirsten A Dalrymple, Matteo Visconti di Oleggio Castello, Jed T Elison, M Ida Gobbini
Facial identity and facial expression processing both appear to follow a protracted developmental trajectory, yet these trajectories have been studied independently and have not been directly compared. Here we investigated whether these processes develop at the same or different rates using matched identity and expression discrimination tasks. The Identity task begins with a target face that is a morph between two identities (Identity A/Identity B). After a brief delay, the target face is replaced by two choice faces: 100% Identity A and 100% Identity B...
2017: PloS One
https://www.readbyqxmd.com/read/28616858/intensity-dependence-in-high-level-facial-expression-adaptation-aftereffect
#16
Sang Wook Hong, K Lira Yoon
Perception of a facial expression can be altered or biased by a prolonged viewing of other facial expressions, known as the facial expression adaptation aftereffect (FEAA). Recent studies using antiexpressions have demonstrated a monotonic relation between the magnitude of the FEAA and adaptor extremity, suggesting that facial expressions are opponent coded and represented continuously from one expression to its antiexpression. However, it is unclear whether the opponent-coding scheme can account for the FEAA between two facial expressions...
June 14, 2017: Psychonomic Bulletin & Review
https://www.readbyqxmd.com/read/28616153/a-multidisciplinary-approach-to-the-successful-management-of-gorlin-syndrome
#17
Ryan N Mello, Zaki Khan, Umar Choudry
Gorlin-Goltz syndrome (GGS) is a rare genetic syndrome with variable expressivity and autosomal dominant inheritance. The major features of GGS include numerous basal cell carcinomas (BCCs), keratocysts of the jaw, palmar/plantar pits and calcification of the falx cerebri. Authors report the case of a 51-year-old male with a 19-year history of GGS and multiple BCCs of the head and neck. He presented with a large ulcerating lesion on the right side of his face involving cutaneous, subcutaneous and muscular tissues of the temporal and orbital region...
June 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28616038/electroacupuncture-at-fengchi-gb20-inhibits-calcitonin-gene-related-peptide-expression-in-the-trigeminovascular-system-of-a-rat-model-of-migraine
#18
Luo-Peng Zhao, Lu Liu, Pei Pei, Zheng-Yang Qu, Yu-Pu Zhu, Lin-Peng Wang
Most migraine patients suffer from cutaneous allodynia; however, the underlying mechanisms are unclear. Calcitonin gene-related peptide (CGRP) plays an important role in the pathophysiology of migraine, and it is therefore, a potential therapeutic target for treating the pain. In the present study, a rat model of conscious migraine, induced by repeated electrical stimulation of the superior sagittal sinus, was established and treated with electroacupuncture at Fengchi (GB20) (depth of 2-3 mm, frequency of 2/15 Hz, intensity of 0...
May 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28615487/cognitive-specialization-for-learning-faces-is-associated-with-shifts-in-the-brain-transcriptome-of-a-social-wasp
#19
Ali J Berens, Elizabeth A Tibbetts, Amy L Toth
The specialized ability to learn and recall individuals based on distinct facial features is known in only a few, large-brained social taxa. Social paper wasps in the genus Polistes are the only insects known to possess this form of cognitive specialization. We analyzed genome-wide brain gene expression during facial and pattern training for two species of paper wasps (P. fuscatus, which has face recognition, and P. metricus, which does not) using RNA sequencing. We identified 237 transcripts associated with face specialization in P...
June 15, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28613171/simultaneous-feature-and-dictionary-learning-for-image-set-based-face-recognition
#20
Jiwen Lu, Gang Wang, Jie Zhou
In this paper, we propose a simultaneous feature and dictionary learning (SFDL) method for image set based face recognition, where each training and testing example contains a set of face images which were captured from different variations of pose, illumination, expression, resolution and motion. While a variety of feature learning and dictionary learning methods have been proposed in recent years and some of them have been successfully applied to image set based face recognition, most of them learn features and dictionaries for facial image sets individually, which may not be powerful enough because some discriminative information for dictionary learning may be compromised in the feature learning stage if they are applied sequentially, and vice versa...
June 8, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
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