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https://www.readbyqxmd.com/read/29778034/early-discharge-of-patients-with-pulmonary-embolism-in-daily-clinical-practice-a-prospective-observational-study-comparing-clinical-gestalt-and-clinical-rules
#1
Simone Vanni, Cecilia Becattini, Peiman Nazerian, Carlo Bova, Valerio Teodoro Stefanone, Ludovica Anna Cimini, Gabriele Viviani, Cosimo Caviglioli, Michela Sanna, Giuseppe Pepe, Stefano Grifoni
OBJECTIVES: To estimate the efficiency and safety of clinicians' gestalt in the identification of patients with pulmonary embolism (PE) candidates for early discharge and to compare the efficiency and safety of clinical gestalt with that of the Pulmonary Embolism Severity Index (PESI), the simplified PESI (sPESI) and the Hestia criteria (HC). METHODS: Consecutive adult patients presenting to the emergency department of four Italian hospitals with confirmed diagnosis of PE were included...
May 8, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29759070/identifying-frailty-in-primary-care-a-qualitative-description-of-family-physicians-gestalt-impressions-of-their-older-adult-patients
#2
Clara Korenvain, Ida-Maisie Famiyeh, Sheila Dunn, Cynthia R Whitehead, Paula A Rochon, Lisa M McCarthy
BACKGROUND: Many tools exist to guide family physicians' impressions about frailty status of older adults, but no single tool, instrument, or set of criteria has emerged as most useful. The role of physicians' subjective impressions in frailty decisions has not been studied. This study explores how family physicians conceptualize frailty, and the factors that they consider when making subjective decisions about patients' frailty statuses. METHODS: Descriptive qualitative study of family physicians who practice in a large urban academic family medicine center as they participated in one-on-one "think-aloud" interviews about the frailty status of their patients aged 80 years and over...
May 14, 2018: BMC Family Practice
https://www.readbyqxmd.com/read/29741989/object-based-attention-on-social-units-visual-selection-of-hands-performing-a-social-interaction
#3
Jun Yin, Haokui Xu, Jipeng Duan, Mowei Shen
Traditionally, objects of attention are characterized either as full-fledged entities or either as elements grouped by Gestalt principles. Because humans appear to use social groups as units to explain social activities, we proposed that a socially defined group, according to social interaction information, would also be a possible object of attentional selection. This hypothesis was examined using displays with and without handshaking interactions. Results demonstrated that object-based attention, which was measured by an object-specific attentional advantage (i...
May 1, 2018: Psychological Science
https://www.readbyqxmd.com/read/29696793/kbg-syndrome-patient-due-to-16q24-3-microdeletion-presenting-with-a-paratesticular-rhabdoid-tumor-coincidence-or-cancer-predisposition
#4
Astrid Behnert, Bernd Auber, Doris Steinemann, Michael C Frühwald, Carolin Huisinga, Kais Hussein, Christian Kratz, Tim Ripperger
KBG syndrome is a rare autosomal dominant disorder caused by constitutive haploinsufficiency of the ankyrin repeat domain-containing protein 11 (ANKRD11) being the result of either loss-of-function gene variants or 16q24.3 microdeletions. The syndrome is characterized by a variable clinical phenotype comprising a distinct facial gestalt and variable neurological involvement. ANKRD11 is frequently affected by loss of heterozygosity in cancer. It influences the ligand-dependent transcriptional activation of nuclear receptors and tumor suppressive function of tumor protein TP53...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29695756/disease-causing-variants-in-tcf4-are-a-frequent-cause-of-intellectual-disability-lessons-from-large-scale-sequencing-approaches-in-diagnosis
#5
Laura Mary, Amélie Piton, Elise Schaefer, Francesca Mattioli, Elsa Nourisson, Claire Feger, Claire Redin, Magali Barth, Salima El Chehadeh, Estelle Colin, Christine Coubes, Laurence Faivre, Elisabeth Flori, David Geneviève, Yline Capri, Laurence Perrin, Jennifer Fabre-Teste, Dana Timbolschi, Alain Verloes, Robert Olaso, Anne Boland, Jean-François Deleuze, Jean-Louis Mandel, Bénédicte Gerard, Irina Giurgea
High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the diagnosis of non-syndromic intellectual disabilities (ID). HTS studies permit the redefinition of the phenotypical spectrum of known disease-causing genes, escaping the clinical inclusion bias of gene-by-gene Sanger sequencing. We studied a cohort of 903 patients with ID not reminiscent of a well-known syndrome, using an ID-targeted HTS of several hundred genes and found de novo heterozygous variants in TCF4 (transcription factor 4) in eight novel patients...
April 26, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29681106/van-maldergem-syndrome-and-hennekam-syndrome-further-delineation-of-allelic-phenotypes
#6
Ivan Ivanovski, Susan Akbaroghli, Marzia Pollazzon, Chiara Gelmini, Stefano Giuseppe Caraffi, Mahboubeh Mansouri, Zahra Chavoshzadeh, Simonetta Rosato, Valeria Polizzi, Giancarlo Gargano, Marielle Alders, Livia Garavelli, Raoul C Hennekam
Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the occurrence of neonatal hypotonia and feeding problems, hearing loss, tracheal anomalies, and osteopenia in VMS, and lymphedema in HS. VMS can be caused by autosomal recessive variants in DCHS1 as well, and HS can also be caused by autosomal recessive variants in CCBE1 and ADAMTS3...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29668381/choosing-a-foveal-goal-recruits-the-saccadic-system-during-smooth-pursuit
#7
Stephen J Heinen, Jeremy B Badler, Scott N J Watamaniuk
Models of smooth pursuit eye movements stabilize an object's retinal image, yet pursuit is peppered with small, destabilizing "catch-up" saccades. Catch-up saccades might help follow a small, spot stimulus used in most pursuit experiments, since fewer of them occur with large stimuli. However, they can return when a large stimulus has a small central feature. It may be that a central feature on a large object automatically recruits the saccadic system. Alternatively, a cognitive choice is made that the feature is the pursuit goal, and the saccadic system is then recruited to pursue it...
April 18, 2018: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29662462/visual-grouping-in-accordance-with-utterance-planning-facilitates-speech-production
#8
Liming Zhao, Kevin B Paterson, Xuejun Bai
Research on language production has focused on the process of utterance planning and involved studying the synchronization between visual gaze and the production of sentences that refer to objects in the immediate visual environment. However, it remains unclear how the visual grouping of these objects might influence this process. To shed light on this issue, the present research examined the effects of the visual grouping of objects in a visual display on utterance planning in two experiments. Participants produced utterances of the form "The snail and the necklace are above/below/on the left/right side of the toothbrush" for objects containing these referents (e...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29625859/unconscious-retinotopic-motion-processing-affects-non-retinotopic-motion-perception
#9
Marc M Lauffs, Oh-Hyeon Choung, Haluk Öğmen, Michael H Herzog
Unconscious visual stimuli can affect conscious perception: For example, an invisible prime can affect responses to a subsequent target. The invisible interpretation of an ambiguous figure can have similar effects. Invisibility in these situations is typically explained by stimulus-suppression in early, retinotopic brain areas. We have previously argued that invisibility is closely linked to Gestalt ("object") organization principles. For example, motion is typically perceived in non-retinotopic, object-centered, and not in retinotopic coordinates...
April 4, 2018: Consciousness and Cognition
https://www.readbyqxmd.com/read/29623569/advances-in-computer-assisted-syndrome-recognition-by-the-example-of-inborn-errors-of-metabolism
#10
Jean T Pantel, Max Zhao, Martin A Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter M Krawitz
Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the performance of deep-learned classification processes is inherently difficult. For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysaccharidosis type I and II that are known for their wide and overlapping phenotypic spectra...
April 5, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29608178/simultaneous-single-cell-profiling-of-lineages-and-cell-types-in-the-vertebrate-brain
#11
Bushra Raj, Daniel E Wagner, Aaron McKenna, Shristi Pandey, Allon M Klein, Jay Shendure, James A Gagnon, Alexander F Schier
The lineage relationships among the hundreds of cell types generated during development are difficult to reconstruct. A recent method, GESTALT, used CRISPR-Cas9 barcode editing for large-scale lineage tracing, but was restricted to early development and did not identify cell types. Here we present scGESTALT, which combines the lineage recording capabilities of GESTALT with cell-type identification by single-cell RNA sequencing. The method relies on an inducible system that enables barcodes to be edited at multiple time points, capturing lineage information from later stages of development...
March 28, 2018: Nature Biotechnology
https://www.readbyqxmd.com/read/29600820/connection-based-and-object-based-grouping-in-multiple-object-tracking-a-developmental-study
#12
Ruth Van der Hallen, Julie Reusens, Kris Evers, Lee de-Wit, Johan Wagemans
Developmental research on Gestalt laws has previously revealed that, even as young as infancy, we are bound to group visual elements into unitary structures in accordance with a variety of organizational principles. Here, we focus on the developmental trajectory of both connection-based and object-based grouping, and investigate their impact on object formation in participants, aged 9-21 years old (N = 113), using a multiple-object tracking paradigm. Results reveal a main effect of both age and grouping type, indicating that 9- to 21-year-olds are sensitive to both connection-based and object-based grouping interference, and tracking ability increases with age...
March 30, 2018: British Journal of Developmental Psychology
https://www.readbyqxmd.com/read/29576207/-support-and-tools-for-preparing-for-birth
#13
Mathilde Bouychou, Hélène Sallez, Gina de Brito, Yamina Mouilti, Nathalie Piquée, Hélène Boyé
There are a thousand and one ways of preparing to be a parent. Specific support is offered to pregnant women or the couple in order to take the time to prepare for this personal transformation. Haptonomy, sophrology, shiatsu and massage, acupuncture or gestalt therapy are some of the methods helping parents to prepare to welcome their future child with peace of mind.
March 2018: Soins. Pédiatrie, Puériculture
https://www.readbyqxmd.com/read/29551600/typical-vs-atypical-combining-auditory-gestalt-perception-and-acoustic-analysis-of-early-vocalisations-in-rett-syndrome
#14
Florian B Pokorny, Katrin D Bartl-Pokorny, Christa Einspieler, Dajie Zhang, Ralf Vollmann, Sven Bölte, Markus Gugatschka, Björn W Schuller, Peter B Marschik
BACKGROUND: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations. AIMS: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt perception and acoustic vocalisation analysis. METHODS AND PROCEDURES: We extracted N = 363 (pre-)linguistic vocalisations from home video recordings of an infant later diagnosed with RTT...
March 15, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29532418/the-psychophysiological-determinants-of-pacing-behaviour-and-performance-during-prolonged-endurance-exercise-a-performance-level-and-competition-outcome-comparison
#15
Andreas Venhorst, Dominic P Micklewright, Timothy D Noakes
INTRODUCTION: A three-dimensional framework of centrally regulated and goal-directed exercise behaviour emphasised the integration of distinct sensory-discriminatory, affective-motivational and cognitive-evaluative dimensions that underpin perceived fatigability. This study aimed to capture the complex interdependencies and temporal dynamics in these processes, their interrelations with observed pacing behaviour, performance and biochemical variables as well as their performance level- and competition outcome-dependent variances...
March 12, 2018: Sports Medicine
https://www.readbyqxmd.com/read/29511999/med13l-related-intellectual-disability-involvement-of-missense-variants-and-delineation-of-the-phenotype
#16
T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, E C Bedoukian, E J Bhoj, D Bonneau, E Boudry-Labis, S Bouquillon, O Boute-Benejean, R Caumes, N Chatron, C Colson, C Coubes, C Coutton, F Devillard, A Dieux-Coeslier, M Doco-Fenzy, L J Ewans, L Faivre, E Fassi, M Field, C Fournier, C Francannet, D Genevieve, I Giurgea, A Goldenberg, A K Green, A M Guerrot, D Heron, B Isidor, B A Keena, B L Krock, P Kuentz, E Lapi, N Le Meur, G Lesca, D Li, I Marey, C Mignot, C Nava, A Nesbitt, G Nicolas, C Roche-Lestienne, T Roscioli, V Satre, A Santani, M Stefanova, S Steinwall Larsen, P Saugier-Veber, S Picker-Minh, C Thuillier, A Verloes, G Vieville, M Wenzel, M Willems, S Whalen, Y A Zarate, A Ziegler, S Manouvrier-Hanu, V M Kalscheuer, B Gerard, Jamal Ghoumid
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies...
May 2018: Neurogenetics
https://www.readbyqxmd.com/read/29504670/alteration-in-intrinsic-and-extrinsic-functional-connectivity-of-resting-state-networks-associated-with-subclinical-hypothyroid
#17
Mukesh Kumar, Shilpi Modi, Poonam Rana, Pawan Kumar, Ratnesh Kanwar, Tarun Sekhri, Maria D'souza, Subash Khushu
Subclinical hypothyroidism (SCH) is characterized by mild elevation of thyroid stimulating hormone (TSH) (range 5-10 μIU/ml) and normal free triiodothyronine (FT3) and free thyroxine (FT4). The cognitive function impairment is well known in thyroid disorders such as hypothyroidism and hyperthyroidism, but little is known about deficits in brain functions in SCH subjects. Also, whether hormone-replacement treatment is necessary or not in SCH subjects is still debatable. In order to have an insight into the cognition of SCH subjects, intrinsic and extrinsic functional connectivity (FC) of the resting state networks (RSNs) was studied...
March 5, 2018: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/29502329/detecting-aberrant-opioid-behavior-in-the-emergency-department-a-prospective-study-using-the-screener-and-opioid-assessment-for-patients-with-pain-revised-soapp-%C3%A2-r-current-opioid-misuse-measure-comm-%C3%A2-and-provider-gestalt
#18
Shawn M Varney, Crystal A Perez, Allyson A Araña, Katherine R Carey, Victoria J Ganem, Lee A Zarzabal, Rosemarie G Ramos, Vikhyat S Bebarta
Emergency department (ED) providers have limited time to evaluate patients at risk for opioid misuse. A validated tool to assess the risk for aberrant opioid behavior may mitigate adverse sequelae associated with prescription opioid misuse. We sought to determine if SOAPP-R, COMM, and provider gestalt were able to identify patients at risk for prescription opioid misuse as determined by pharmacy records at 12 months. We conducted a prospective observational study of adult patients in a high volume US ED. Patients completed the SOAPP-R and COMM, and treating EM providers evaluated patients' opioid misuse risk...
March 3, 2018: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/29498150/acute-aortic-dissection-is-there-something-better-than-physician-gestalt
#19
Lane M Smith, Chadwick D Miller
No abstract text is available yet for this article.
April 2018: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/29465470/opioid-addiction-diversion-and-abuse-in-chronic-and-cancer-pain
#20
Vijay Kata, Matthew B Novitch, Mark R Jones, Best O Anyama, Erik M Helander, Alan D Kaye
PURPOSE OF REVIEW: The primary cause of overdose death in the United States is related to pharmaceutical opioids. A few particular populations that struggle with adverse outcomes related to opioid abuse are those in palliative care, those with chronic pain, and those receiving pain treatments secondary to cancer or chemotherapy. RECENT FINDINGS: There have been massive efforts to decrease the use of opioid abuse in patient care in a gestalt manner, but palliative care provides unique challenges in applying these reduction tactics used by other specialties...
June 2018: Current Opinion in Supportive and Palliative Care
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