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https://www.readbyqxmd.com/read/28821294/understanding-polycystic-ovary-syndrome-from-the-patient-perspective-a-concept-elicitation-patient-interview-study
#1
Mona L Martin, Katarina Halling, Daniel Eek, Meaghan Krohe, Jean Paty
BACKGROUND: The aim of this study was to explore the need for a new disease-specific patient reported outcome (PRO) measure for use in clinical trials of drugs designed to target the underlying causes of polycystic ovary syndrome (PCOS), and in the process contribute to our understanding of the symptoms and impacts that define the patient experience with PCOS. METHODS: Semi-structured interviews were conducted in 20 women diagnosed with PCOS according to the Rotterdam criteria who had not menstruated in the previous month...
August 18, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28819016/a-syndromic-extreme-insulin-resistance-caused-by-biallelic-poc1a-mutations-in-exon-10
#2
Elisa Giorgio, Elisa Rubino, Alessandro Bruselles, Simone Pizzi, Innocenzo Rainero, Sergio Duca, Fabio Sirchia, Barbara Pasini, Marco Tartaglia, Alfredo Brusco
POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss of function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short stature, facial hirsutism, alopecia, dyslipidemia and extreme insulin resistance. The truncating variant affected exon 10, which is retained in only two of the three POC1A mature RNAs, due to alternative processing of the transcript...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28814736/emotions-alter-muscle-proprioceptive-coding-of-movements-in-humans
#3
Rochelle Ackerley, Jean-Marc Aimonetti, Edith Ribot-Ciscar
Emotions can evoke strong reactions that have profound influences, from gross changes in our internal environment to small fluctuations in facial muscles, and reveal our feelings overtly. Muscles contain proprioceptive afferents, informing us about our movements and regulating motor activities. Their firing reflects changes in muscle length, yet their sensitivity can be modified by the fusimotor system, as found in animals. In humans, the sensitivity of muscle afferents is modulated by cognitive processes, such as attention; however, it is unknown if emotional processes can modulate muscle feedback...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814729/thermally-induced-crystallization-hole-transport-nlo-and-photovoltaic-activity-of-a-bis-diarylamine-based-push-pull-molecule
#4
Yue Jiang, Magali Allain, Denis Gindre, Sylvie Dabos-Seignon, Philippe Blanchard, Clément Cabanetos, Jean Roncali
The synthesis of a molecule constituted of two diarylamine-based push-pull chromophores covalently linked via their nitrogen atom is described. Comparison of the electronic properties with the parent monomer shows that dimerization has negligible influence on the electronic properties of the molecule but exerts a dramatic impact on the capacity of the material to self-reorganize. Application of thermal annealing to thin films induces the crystallization under original morphologies, a process accompanied by a partial bleaching of the absorption in the visible range and by a huge increase of hole-mobility...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28813557/facial-erosive-pustular-dermatosis-after-cosmetic-resurfacing
#5
Julie E Mervak, Stephanie D Gan, Emily H Smith, Frank Wang
Importance: Erosive pustular dermatosis (EPD) is a rare condition that typically affects actinically damaged skin of the scalp. Characterized by sterile pustules, erosions, and crusts, EPD is difficult to treat and heals slowly. The exact cause of EPD is unknown, although trauma is an inciting factor. Objective: To describe 3 women who presented with prolonged facial erosions after cosmetic resurfacing procedures, specifically fully ablative carbon dioxide laser or medium-depth chemical peel...
August 16, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28812270/oxytocin-and-facial-emotion-recognition
#6
Mark A Ellenbogen
The expression of emotion in faces serves numerous meaningful functions, such as conveying messages of danger or approach, facilitating communication, and promoting the formation of social bonds and relationships. The study of facial expressions of emotion has become integral to research in social psychology and social neuroscience, particularly with respect to the neuropeptide oxytocin. This chapter examines how oxytocin influences the processing of emotion in faces by reviewing intranasal administration studies of automatic processing, selective attention, and emotion recognition...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28806323/interactive-process-of-facial-communication-of-pain
#7
Miriam Kunz, Stefan Lautenbacher
No abstract text is available yet for this article.
August 2, 2017: Pain
https://www.readbyqxmd.com/read/28805589/visual-dysfunction-in-parkinson-s-disease
#8
Richard A Armstrong
This chapter describes the visual problems likely to be encountered in Parkinson's disease (PD) and whether such signs are useful in differentiating the parkinsonian syndromes. Visual dysfunction in PD may involve visual acuity, contrast sensitivity, color discrimination, pupil reactivity, saccadic and pursuit eye movements, motion perception, visual fields, and visual processing speeds. In addition, disturbance of visuospatial orientation, facial recognition problems, rapid eye movement (REM) sleep behavior disorder, and chronic visual hallucinations may be present...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28803877/face-pareidolia-in-the-rhesus-monkey
#9
Jessica Taubert, Susan G Wardle, Molly Flessert, David A Leopold, Leslie G Ungerleider
Face perception in humans and nonhuman primates is rapid and accurate [1-4]. In the human brain, a network of visual-processing regions is specialized for faces [5-7]. Although face processing is a priority of the primate visual system, face detection is not infallible. Face pareidolia is the compelling illusion of perceiving facial features on inanimate objects, such as the illusory face on the surface of the moon. Although face pareidolia is commonly experienced by humans, its presence in other species is unknown...
August 4, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28803219/revealing-the-mechanisms-of-human-face-perception-using-dynamic-apertures
#10
Jennifer Murphy, Richard Cook
Faces are notoriously hard to perceive when turned upside-down. It is often claimed that perceptual decrements reflect a qualitative switch from parallel whole-face processing, to a serial analysis of individual features. To test this view, we examined observers' ability to categorize faces presented in their entirety, or viewed through a dynamic aperture that moved incrementally across the facial image. Exposing faces region-by-region disrupts holistic processing, but permits serial analysis of local features...
August 10, 2017: Cognition
https://www.readbyqxmd.com/read/28802727/brain-activation-during-processing-of-genuine-facial-emotion-in-depression-preliminary-findings
#11
REVIEW
Samantha J Groves, Toni L Pitcher, Tracy R Melzer, Jennifer Jordan, Janet D Carter, Gin S Malhi, Lucy C Johnston, Richard J Porter
OBJECTIVE: The current study aimed to examine the neural correlates of processing genuine compared with posed emotional expressions, in depressed and healthy subjects using a novel functional magnetic resonance imaging (fMRI) paradigm METHOD: During fMRI scanning, sixteen depressed patients and ten healthy controls performed an Emotion Categorisation Task, whereby participants were asked to distinguish between genuine and non-genuine (posed or neutral) facial displays of happiness and sadness...
July 27, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#12
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28796560/facial-emotion-decoding-in-patients-with-parkinson-s-disease
#13
Marco De Risi, Giancarlo Di Gennaro, Angelo Picardi, Sara Casciato, Liliana G Grammaldo, Alfredo D'Aniello, Deborah Lanni, Stefano Meletti, Nicola Modugno
PURPOSE: In line with the growing attention on non-motor symptoms and disturbance of affective and emotional processing in Parkinson's disease, we aimed to study different aspects of facial emotion expression evaluation in a group of PD without cognitive decline in treatment with common antiparkinsonian drugs, matched for sex, age, and education with healthy subjects. MATERIALS AND METHODS: The study was conducted on 30 patients (13 male; mean age: 63.3±6.7; mean age of disease onset: 56...
August 10, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28790394/interocularly-merged-face-percepts-eliminate-binocular-rivalry
#14
P Christiaan Klink, Daphne Boucherie, Damiaan Denys, Pieter R Roelfsema, Matthew W Self
Faces are important visual objects for humans and other social animals. A complex network of specialized brain areas is involved in the recognition and interpretation of faces. This network needs to strike a balance between being sensitive enough to distinguish between different faces with similar features, and being tolerant of low-level visual changes so that a given face is stably perceived as a particular individual. Such stability may require feedback from higher brain regions down to the level where details are represented...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28777485/pls3-deletions-lead-to-severe-spinal-osteoporosis-and-disturbed-bone-matrix-mineralization
#15
Kämpe Aj, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis Ep, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O
Mutations in the PLS3 gene, encoding Plastin 3, were described in 2013 as a cause for X-linked primary bone fragility in children. The specific role of PLS3 in bone metabolism remains inadequately understood. Here we describe for the first time PLS3 deletions as the underlying cause for childhood-onset primary osteoporosis in three boys from two families. We carried out thorough clinical, radiological and bone tissue analyses to explore the consequences of these deletions and to further elucidate the role of PLS3 in bone homeostasis...
August 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28771384/vax1-plays-an-indirect-role-in-the-etiology-of-murine-cleft-palate
#16
F Geoghegan, G M Xavier, A A Birjandi, M Seppala, M T Cobourne
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. We have investigated Vax1 function during murine palatogenesis but found no evidence for a direct role in this process...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28770116/cisplatin-induced-nephrotoxicity-and-hiv-associated-nephropathy-mimickers-of-myeloma-like-cast-nephropathy
#17
Muhammad Siddique Khurram, Ahmed Alrajjal, Warda Ibrar, Jacob Edens, Umer Sheikh, Ameer Hamza, Hong Qu
Myeloma cast nephropathy is an obstructing disorder of renal tubules, caused by precipitation of Bence Jones proteins. Myeloma-like cast nephropathy (MLCN) has been reported in the literature to occur in various primary renal and nonrenal diseases. We present a series of three rare cases of cast nephropathy, two of which are HIV patients, and the third patient is receiving cisplatin-based chemotherapy. However, in all three patients plasma cell dyscrasia has been ruled out. A 30-year-old male was admitted to the hospital with facial cellulitis...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/28769837/trait-anxiety-impacts-the-perceived-gaze-direction-of-fearful-but-not-angry-faces
#18
Zhonghua Hu, Maria Gendron, Qiang Liu, Guang Zhao, Hong Li
Facial expression and gaze direction play an important role in social communication. Previous research has demonstrated the perception of anger is enhanced by direct gaze, whereas, it is unclear whether perception of fear is enhanced by averted gaze. In addition, previous research has shown the anxiety affects the processing of facial expression and gaze direction, but hasn't measured or controlled for depression. As a result, firm conclusions cannot be made regarding the impact of individual differences in anxiety and depression on perceptions of face expressions and gaze direction...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28767508/the-role-of-spatial-frequency-information-in-the-decoding-of-facial-expressions-of-pain-a-novel-hybrid-task
#19
Shan Wang, Christopher Ecclestona, Edmund Keogha
Spatial frequency (SF) information contributes to the recognition of facial expressions, including pain. Low-SF encodes facial configuration and structure and often dominates over high-SF information, which encodes fine details in facial features. This low-SF preference has not been investigated within the context of pain. In this study we investigated whether perpetual preference differences exist for low- and high-SF pain information. A novel hybrid expression paradigm was used, in which two different expressions, one containing low-SF information and the other high-SF information, were combined in a facial hybrid...
July 31, 2017: Pain
https://www.readbyqxmd.com/read/28764734/development-of-a-core-outcome-set-for-clinical-trials-in-facial-aging-study-protocol-for-a-systematic-review-of-the-literature-and-identification-of-a-core-outcome-set-using-a-delphi-survey
#20
Daniel I Schlessinger, Sanjana Iyengar, Arianna F Yanes, Jill K Henley, Hovik J Ashchyan, Anastasia O Kurta, Payal M Patel, Umar A Sheikh, Matthew J Franklin, Courtney C Hanna, Brian R Chen, Sarah G Chiren, Jochen Schmitt, Stefanie Deckert, Karina C Furlan, Emily Poon, Ian A Maher, Todd V Cartee, Joseph F Sobanko, Murad Alam
BACKGROUND: Facial aging is a concern for many patients. Wrinkles, loss of volume, and discoloration are common physical manifestations of aging skin. Genetic heritage, prior ultraviolet light exposure, and Fitzpatrick skin type may be associated with the rate and type of facial aging. Although many clinical trials assess the correlates of skin aging, there is heterogeneity in the outcomes assessed, which limits the quality of evaluation and comparison of treatment modalities. To address the inconsistency in outcomes, in this project we will develop a core set of outcomes that are to be evaluated in all clinical trials relevant to facial aging...
August 1, 2017: Trials
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