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https://www.readbyqxmd.com/read/28807867/impairment-of-different-protein-domains-causes-variable-clinical-presentation-within-pitt-hopkins-syndrome-and-suggests-intragenic-molecular-syndromology-of-tcf4
#1
Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, Stefania Ricciardi, Francesca Pia Chiara Leone, Marco Baccarin, Silvana Guerneri, Daniela Orteschi, Marina Murdolo, Serena Lattante, Silvia Frangella, Beth Keena, Margaret H Harr, Elaine Zackai, Marcella Zollino
Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the bHLH (basic Helix-Loop-Helix) domain coded by exon 18. Several alternatively spliced TCF4 variants have been described, allowing for translation of variable protein isoforms. Typical PTHS patients have impairment of at least the bHLH domain...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28742244/novel-prps1-gain-of-function-mutation-in-a-patient-with-congenital-hyperuricemia-and-facial-anomalies
#2
Joseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, Anne-Karin Kahlert, Jens Schallner, Andreas Rump, Evelin Schröck, Doreen Dobritzsch, Jeroen Roelofsen, André B P van Kuilenburg, Andreas Tzschach
Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28732137/prevalence-of-sacroiliitis-in-inflammatory-bowel-disease-using-a-standardized-ct-scoring-system
#3
Jonathan Chan, Ismail Sari, David Salonen, Mark S Silverberg, Nigil Haroon, Robert D Inman
OBJECTIVES: There is an increasing emphasis on early identification and treatment of ankylosing spondylitis (AS) of which the hallmark is sacroiliitis. Patients with inflammatory bowel disease (IBD) are at increased risk of AS and often receive CT scans of their abdomen affording clinicians the opportunity to determine the presence of sacroiliitis. Previous studies using CT have relied only on radiologist's gestalt or a non-validated adaptation of the mNY criteria. Our aim is to assess the prevalence of sacroiliitis in IBD using a validated screening tool and to determine how frequently these patients are referred for rheumatologic evaluation...
July 21, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28714704/planes-of-phenomenological-experience-the-psychology-of-deafness-as-an-early-example-of-american-gestalt-psychology-1928-1940
#4
Marion A Schmidt
When, in 1928, the Clarke School for the Deaf in Northampton, Massachusetts, opened a psychological research division, it was nothing unusual in a time fascinated with the sciences of education. Yet with its longstanding ties to Northampton's Smith College, the school was able to secure the collaboration of eminent Gestalt psychologist Kurt Koffka, who, in turn, engaged 2 more German-speaking emigrants, Margarete Eberhardt and social psychologist Fritz Heider, and Heider's American wife Grace Moore Heider. This collaboration has seen little attention from historians, who have treated Koffka's and Heider's time in Northampton as a transitory phase...
July 17, 2017: History of Psychology
https://www.readbyqxmd.com/read/28685487/an-unexplained-three-dimensional-percept-emerging-from-a-bundle-of-lines
#5
Eric L Altschuler, Abigail E Huang, Hee J Kim, Luca Battaglini, Sergio Roncato
Perceptual grouping has been extensively studied, but some areas are still unexplored-in particular, the figural organizations that emerge when bundles of intersecting lines are drawn. Here, we will describe some figural organizations that emerge after the superimposition of bundles of lines forming the profile of regular triangular waves. By manipulating the lines' jaggedness and junction geometry (regular or irregular X junction) we could generate the following organizations: (a) a grid, or a figural configuration in which both the lines and closed contours are perceived, (b) a figure-ground organization composed of figures separated by portions of the background, and (c) a corrugated surface appearing as a multifaceted polyhedral shell crossed by ridges and valleys...
July 6, 2017: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/28678707/visual-attention-modeling-for-stereoscopic-video-a-benchmark-and-computational-model
#6
Yuming Fang, Chi Zhang, Jing Li, Jianjun Lei, Matthieu Perreira Da Silva, Patrick Le Callet
In this paper, we investigate the visual attention modeling for stereoscopic video from the following two aspects. First, we build one large-scale eye tracking database as the benchmark of visual attention modeling for stereoscopic video. The database includes 47 video sequences and their corresponding eye fixation data. Second, we propose a novel computational model of visual attention for stereoscopic video based on Gestalt theory. In the proposed model, we extract the low-level features, including luminance, color, texture, and depth, from discrete cosine transform coefficients, which are used to calculate feature contrast for the spatial saliency computation...
October 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28676773/intuitive-face-judgments-rely-on-holistic-eye-movement-pattern
#7
Laura F Mega, Kirsten G Volz
Non-verbal signals such as facial expressions are of paramount importance for social encounters. Their perception predominantly occurs without conscious awareness and is effortlessly integrated into social interactions. In other words, face perception is intuitive. Contrary to classical intuition tasks, this work investigates intuitive processes in the realm of every-day type social judgments. Two differently instructed groups of participants judged the authenticity of emotional facial expressions, while their eye movements were recorded: an 'intuitive group,' instructed to rely on their "gut feeling" for the authenticity judgments, and a 'deliberative group,' instructed to make their judgments after careful analysis of the face...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28666562/emergency-medicine-myths-computed-tomography-of-the-head-prior%C3%A2-to-lumbar-puncture-in-adults-with-suspected-bacterial-meningitis-due-diligence-or-antiquated-practice
#8
Michael D April, Brit Long, Alex Koyfman
BACKGROUND: Various sources purport an association between lumbar puncture and brainstem herniation in patients with intracranial mass effect lesions. Several organizations and texts recommend head computed tomography (CT) prior to lumbar puncture in selected patients. OBJECTIVE: To review the evidence regarding the utility of obtaining head CT prior to lumbar puncture in adults with suspected bacterial meningitis. DISCUSSION: Observational studies report a risk of post-lumbar puncture brainstem herniation in the presence of intracranial mass effect (1...
June 27, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28665208/association-between-rivaroxaban-use-and-length-of-hospital-stay-treatment-costs-and-early-outcomes-in-patients-with-pulmonary-embolism-a-systematic-review-of-real-world-studies
#9
Christine G Kohn, Gregory J Fermann, W Frank Peacock, Phil S Wells, Christopher W Baugh, Veronica Ashton, Concetta Crivera, Jeff R Schein, Peter Wildgoose, Craig I Coleman
BACKGROUND: In the EINSTEIN-Pulmonary Embolism (PE) trial, subjects randomized to rivaroxaban versus enoxaparin bridging to vitamin K antagonist (VKA) therapy experienced a reduced index hospital length of stay (LOS). We sought to conduct a systematic review of real-world studies comparing LOS, costs and early outcomes among patients treated with rivaroxaban or parenterally bridged VKA in routine practice. METHODS: We searched Medline and Scopus from 1 January 2011 to 30 November 2016 to identify observational studies comparing acute PE patients anticoagulated with rivaroxaban or parenterally bridged VKA and reporting data on index hospital LOS, costs and/or early post-PE outcomes...
July 17, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#10
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28631346/historically-informed-nursing-a-transnational-case-study-in-china
#11
Jun Lu, Sonya Grypma, Yingjuan Cao, Lijuan Bu, Lin Shen, Patricia M Davidson
The term 'nurse' (hushi-'caring scholar') did not enter the Chinese language until the early 20th century. Modern nursing-a fundamentally Western notion popularized by Nightingale and introduced to China in 1884-profoundly changed the way care of the sick was practiced. For 65 years, until 1949, nursing developed in China as a transnational project, with Western and Chinese influences shaping the profession of nursing in ways that linger today. Co-authored by Chinese, Canadian, and American nurses, this paper examines the early stages of nursing in one province of China as an exemplar of the transnational nature of nursing development...
June 20, 2017: Nursing Inquiry
https://www.readbyqxmd.com/read/28614671/gestalt-breastfeeding-helping-mothers-and-infants-optimize-positional-stability-and-intraoral-breast-tissue-volume-for-effective-pain-free-milk-transfer
#12
Pamela Douglas, Renee Keogh
In the past decade, biological nurturing and activation of maternal and infant instincts after birth have constituted a major advance in clinical breastfeeding support. Yet, physiologic breastfeeding initiation is not enough to ensure ongoing pain-free and effective breastfeeding for many pairs. Current interventions, including "hands-off" mammalian approaches, do not improve breastfeeding outcomes, including in randomized controlled trials. Back-arching, difficulty latching or staying on the breast, and fussing at the breast are common signs of infant positional instability during breastfeeding...
August 2017: Journal of Human Lactation: Official Journal of International Lactation Consultant Association
https://www.readbyqxmd.com/read/28611898/utility-of-the-history-and-physical-examination-in-the-detection-of-acute-coronary-syndromes-in-emergency-department-patients
#13
REVIEW
Zachary Dw Dezman, Amal Mattu, Richard Body
Chest pain accounts for approximately 6% of all emergency department (ED) visits and is the most common reason for emergency hospital admission. One of the most serious diagnoses emergency physicians must consider is acute coronary syndrome (ACS). This is both common and serious, as ischemic heart disease remains the single biggest cause of death in the western world. The history and physical examination are cornerstones of our diagnostic approach in this patient group. Their importance is emphasized in guidelines, but there is little evidence to support their supposed association...
June 2017: Western Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28602721/adding-gestalt-to-the-picture-comment-on-move-me-astonish-me%C3%A2-delight-my-eyes-and-brain-the-vienna-integrated-model-of-top-down-and-bottom-up-processes-in-art-perception-vimap-and-corresponding-affective-evaluative-and-neurophysiological-correlates-by-matthew
#14
https://www.readbyqxmd.com/read/28562391/pierpont-syndrome-report-of-a-new-patient
#15
Anne-Karin Kahlert, Sabine Weidensee, Luisa Mackenroth, Joseph Porrmann, Andreas Rump, Nataliya Di Donato, Evelin Schröck, Andreas Tzschach
Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p.(Tyr446Cys)] has been described recently in six unrelated patients with Pierpont syndrome. We report on a male child with developmental delay, distinctive facial dysmorphic features, dystrophy, and abnormal fat distribution in the feet, in whom we identified the identical TBL1XR1 mutation...
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28554588/pathologic-c-spine-fracture-with-low-risk-mechanism-and-normal-physical-exam
#16
Andrew Hunter, Jolion McGreevy, Judith Linden
Cervical spinal fracture is a rare, but potentially disabling complication of trauma to the neck. Clinicians often rely on clinical decision rules and guidelines to decide whether or not imaging is necessary when a patient presents with neck pain. Validated clinical guidelines include the Canadian C-Spine Rule and the Nexus criteria. Studies suggest that the risks of a pathologic fracture from a simple rear end collision are negligible. We present a case of an individual who presented to an emergency department (ED) after a low speed motor vehicle collision complaining of lateral neck pain and had multiple subsequent visits for the same complaint with negative exam findings...
May 23, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28550001/more-than-a-text-message-dismantling-digital-triggers-to-curate-behavior-change-in-patient-centered-health-interventions
#17
Frederick Muench, Amit Baumel
Digital triggers such as text messages, emails, and push alerts are designed to focus an individual on a desired goal by prompting an internal or external reaction at the appropriate time. Triggers therefore have an essential role in engaging individuals with digital interventions delivered outside of traditional health care settings, where other events in daily lives and fluctuating motivation to engage in effortful behavior exist. There is an emerging body of literature examining the use of digital triggers for short-term action and longer-term behavior change...
May 26, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28536537/-gestaltomics-systems-biology-schemes-for-the-study-of-neuropsychiatric-diseases
#18
REVIEW
Nora A Gutierrez Najera, Osbaldo Resendis-Antonio, Humberto Nicolini
The integration of different sources of biological information about what defines a behavioral phenotype is difficult to unify in an entity that reflects the arithmetic sum of its individual parts. In this sense, the challenge of Systems Biology for understanding the "psychiatric phenotype" is to provide an improved vision of the shape of the phenotype as it is visualized by "Gestalt" psychology, whose fundamental axiom is that the observed phenotype (behavior or mental disorder) will be the result of the integrative composition of every part...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28527003/the-effects-of-kanizsa-contours-on-temporal-integration-and-attention-in-rapid-serial-visual-presentation
#19
Aytaç Karabay, Elkan G Akyürek
Performance in rapid serial visual presentation tasks has been shown to depend on the temporal integration of target stimuli when they are presented in direct succession. Temporal target integration produces a single, combined representation of visually compatible stimuli, which is comparatively easy to identify. It is currently unknown to what extent target compatibility affects this perceptual behavior, because it has not been studied systematically to date. In the present study, the effects of compatibility on temporal integration and attention were investigated by manipulating the Gestalt properties of target features...
August 2017: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/28462208/diagnosis-of-the-ocd-patients-using-drawing-features-of-the-bender-gestalt-shapes
#20
R Boostani, F Asadi, N Mohammadi
BACKGROUND: Since psychological tests such as questionnaire or drawing tests are almost qualitative, their results carry a degree of uncertainty and sometimes subjectivity. The deficiency of all drawing tests is that the assessment is carried out after drawing the objects and lots of information such as pen angle, speed, curvature and pressure are missed through the test. In other words, the psychologists cannot assess their patients while running the tests. One of the famous drawing tests to measure the degree of Obsession Compulsion Disorder (OCD) is the Bender Gestalt, though its reliability is not promising...
March 2017: Journal of Biomedical Physics & Engineering
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