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https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#1
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920637/endocrinological-abnormalities-are-a-main-feature-of-17p13-1-microduplication-syndrome-a-new-case-and-literature-review
#2
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, Simonetta Rosato, Marzia Pollazzon, Manuela Mussini, Elga F Belligni, Charles Coutton, Maria Marinelli, Veronica Barbieri, Manuela Napoli, Rosario Pascarella, Chiara Sartori, Francesca Madia, Carlo Fusco, Fabrizia Franchi, Maria E Street, Livia Garavelli
To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently described cases, we delineated the main clinical features of 17p13...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#3
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27879322/the-whole-warps-the-sum-of-its-parts-gestalt-defined-group-mean-size-biases-memory-for-individual-objects
#4
Jennifer E Corbett
The efficiency of averaging properties of sets without encoding redundant details is analogous to gestalt proposals that perception is parsimoniously organized as a function of recurrent order in the world. This similarity suggests that grouping and averaging are part of a broader set of strategies allowing the visual system to circumvent capacity limitations. To examine how gestalt grouping affects the manner in which information is averaged and remembered, I compared the error in observers' adjustments of remembered sizes of individual circles in two different mean-size sets defined by similarity, proximity, connectedness, or a common region...
November 22, 2016: Psychological Science
https://www.readbyqxmd.com/read/27862989/predicting-and-preventing-peripheral-intravenous-cannula-insertion-failure-in-the-emergency-department-clinician-gestalt-wins-again
#5
James Cr Rippey, Peter J Carr, Marie Cooke, Niall Higgins, Claire M Rickard
OBJECTIVE: Failed attempts at peripheral i.v. cannula (PIVC) insertion in the ED are common. The psychological, physical and economic impact of these failures is significant. We sought to explore whether clinicians of differing experience levels can predict their own likelihood (clinician 'gestalt') of first-time cannula insertion success on any given patient. METHODS: Data analyses from a prospective self-reported study assessing risk factors for first-time insertion success in a tertiary adult ED...
December 2016: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/27850078/438-gestalt-clinical-severity-score
#6
Joseph Shiber, Adeolu Akinleye, Jignesh Patel, Emily Fontane, William Chiu, Thomas Scalea
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27849243/moyamoya-disease-impact-on-the-performance-of-oral-and-written-language
#7
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Plínio Marcos Duarte Pinto Ferraz, Maria de Lourdes Merighi Tabaquim
Moyamoya disease is an unusual form of occlusive, cerebrovascular disorder that affects the arteries of the central nervous system, causing acquired language alterations and learning difficulties. The study aim was to describe the oral/written language and cognitive skills in a seven-year-and-seven-month-old girl diagnosed with Moyamoya disease. The assessment consisted of interviews with her parents and application of the following instruments: Observation of Communicative Behavior, Peabody Picture Vocabulary Test, Academic Performance Test, Profile of Phonological Awareness, Raven's Progressive Matrices Test, Special Scale, Wechsler Intelligence Scale for Children, Bender Visual Motor Gestalt Test, and Wisconsin Card Sorting Test...
September 2016: CoDAS
https://www.readbyqxmd.com/read/27847346/scene-segmentation-in-early-visual-cortex-during-suppression-of-ventral-stream-regions
#8
Pablo R Grassi, Natalia Zaretskaya, Andreas Bartels
A growing body of literature suggests that feedback modulation of early visual processing is ubiquitous and central to cortical computation. In particular stimuli with high-level content that invariably activate ventral object responsive regions have been shown to suppress early visual cortex. This suppression was typically interpreted in the framework of predictive coding and feedback from ventral regions. Here we examined early visual modulation during perception of a bistable Gestalt illusion that has previously been shown to be mediated by dorsal parietal cortex rather than by ventral regions that were not activated...
November 12, 2016: NeuroImage
https://www.readbyqxmd.com/read/27832746/exome-sequencing-identifies-pathogenic-variants-of-vps13b-in-a-patient-with-familial-16p11-2-duplication
#9
Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M E Suzanne Lewis
BACKGROUND: The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. CASE PRESENTATION: In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11...
November 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27808125/decoding-of-top-down-cognitive-processing-for-ssvep-controlled-bmi
#10
Byoung-Kyong Min, Sven Dähne, Min-Hee Ahn, Yung-Kyun Noh, Klaus-Robert Müller
We present a fast and accurate non-invasive brain-machine interface (BMI) based on demodulating steady-state visual evoked potentials (SSVEPs) in electroencephalography (EEG). Our study reports an SSVEP-BMI that, for the first time, decodes primarily based on top-down and not bottom-up visual information processing. The experimental setup presents a grid-shaped flickering line array that the participants observe while intentionally attending to a subset of flickering lines representing the shape of a letter...
November 3, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27804958/dominant-variants-in-the-splicing-factor-puf60-cause-a-recognizable-syndrome-with-intellectual-disability-heart-defects-and-short-stature
#11
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype...
November 2, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27792975/local-versus-global-and-retinotopic-versus-non-retinotopic-motion-processing-in-schizophrenia-patients
#12
Marc M Lauffs, Albulena Shaqiri, Andreas Brand, Maya Roinishvili, Eka Chkonia, Haluk Öğmen, Michael H Herzog
Schizophrenia impairs cognitive functions as much as perception. For example, patients perceive global motion in random dot kinematograms less strongly, because, as it is argued, the integration of the dots into a single Gestalt is complex and therefore deteriorated. Similarly, the perception of apparent motion is impaired, because filling-in of the illusory trajectory requires complex processing. Here, we investigated very complex motion processing using the Ternus-Pikler display. First, we tested whether the perception of global apparent motion is impaired in schizophrenia patients compared to healthy controls...
September 28, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27727513/acta-physiologica-s-appearance-and-gestalt-2017
#13
EDITORIAL
P B Persson
No abstract text is available yet for this article.
December 2016: Acta Physiologica
https://www.readbyqxmd.com/read/27705751/before-and-after-nutritional-transformation-of-dysmorphism-in-a-case-of-costello-syndrome
#14
Annie T G Chiu, Lixing Zhu, Gary T K Mok, Gordon K C Leung, C B Chow, Brian H Y Chung
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome. It was only with optimization of his nutritional status that dysmorphic features became more apparent, which affirmed the molecular diagnosis of Costello syndrome from exome sequencing...
October 2, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27702812/an-electrophysiological-index-of-perceptual-goodness
#15
Alexis D J Makin, Damien Wright, Giulia Rampone, Letizia Palumbo, Martin Guest, Rhiannon Sheehan, Helen Cleaver, Marco Bertamini
A traditional line of work starting with the Gestalt school has shown that patterns vary in strength and salience; a difference in "Perceptual goodness." The Holographic weight of evidence model quantifies goodness of visual regularities. The key formula states that W = E/N, where E is number of holographic identities in a pattern and N is number of elements. We tested whether W predicts the amplitude of the neural response to regularity in an extrastriate symmetry-sensitive network. We recorded an Event Related Potential (ERP) generated by symmetry called the Sustained Posterior Negativity (SPN)...
October 4, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27697910/do-you-hear-more-piano-or-drum-sounds-an-auditory-version-of-the-solitaire-illusion
#16
Valter Prpic, Riccardo Luccio
The solitaire illusion is an illusion of numerosity proposed by Frith and Frith. In the original version, an apparent number of elements was determined by the spatial arrangement of two kinds of elements (black and white marbles). In our study, an auditory version of the solitaire illusion was demonstrated. Participants were asked to judge if they perceived more drum or piano sounds. When half of the piano tones were perceived as lower in pitch than a drum sound and the other half higher, piano tones appeared to be arranged in small units, leading to numerosity underestimation...
October 3, 2016: Perception
https://www.readbyqxmd.com/read/27696097/the-child-turcotte-classification-from-gestalt-to-sophisticated-statistics-and-back
#17
Guadalupe Garcia-Tsao
No abstract text is available yet for this article.
November 2016: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/27677085/predicting-fluid-responsiveness-using-bedside-ultrasound-measurements-of-the-inferior-vena-cava-and-physician-gestalt-in-the-emergency-department-of-an-urban-public-hospital-in-sub-saharan-africa
#18
Hendry Robert Sawe, Cathryn Haeffele, Juma A Mfinanga, Victor G Mwafongo, Teri A Reynolds
BACKGROUND: Bedside inferior vena cava (IVC) ultrasound has been proposed as a non-invasive measure of volume status. We compared ultrasound measurements of the caval index (CI) and physician gestalt to predict blood pressure response in patients requiring intravenous fluid resuscitation. METHODS: This was a prospective study of adult emergency department patients requiring fluid resuscitation. A structured data sheet was used to record serial vital signs and the treating clinician's impression of patient volume status and cause of hypotension...
2016: PloS One
https://www.readbyqxmd.com/read/27651979/qualitative-analysis-of-surveyed-emergency-responders-and-the-identified-factors-that-affect-first-stage-of-primary-triage-decision-making-of-mass-casualty-incidents
#19
Kelly R Klein, Frederick M Burkle, Raymond Swienton, Richard V King, Thomas Lehman, Carol S North
INTRODUCTION: After all large-scale disasters multiple papers are published describing the shortcomings of the triage methods utilized. This paper uses medical provider input to help describe attributes and patient characteristics that impact triage decisions. METHODS: A survey distributed electronically to medical providers with and without disaster experience. Questions asked included what disaster experiences they had, and to rank six attributes in order of importance regarding triage...
2016: PLoS Currents
https://www.readbyqxmd.com/read/27639424/best-clinical-practice-blood-culture-utility-in-the-emergency-department
#20
Brit Long, Alex Koyfman
BACKGROUND: Bacteremia affects 200,000 patients per year, with the potential for significant morbidity and mortality. Blood cultures are considered the most sensitive method for detecting bacteremia and are commonly obtained in patients with fever, chills, leukocytosis, focal infections, and sepsis. OBJECTIVE: We sought to provide emergency physicians with a review of the literature concerning blood cultures in the emergency department. DISCUSSION: The utility of blood cultures has been a focus of controversy, prompting research evaluating effects on patient management...
November 2016: Journal of Emergency Medicine
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