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https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#1
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 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28631346/historically-informed-nursing-a-transnational-case-study-in-china
#2
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
#3
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...
June 1, 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
#4
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
#5
https://www.readbyqxmd.com/read/28562391/pierpont-syndrome-report-of-a-new-patient
#6
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
#7
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
#8
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
#9
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
#10
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...
May 19, 2017: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/28462208/diagnosis-of-the-ocd-patients-using-drawing-features-of-the-bender-gestalt-shapes
#11
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
https://www.readbyqxmd.com/read/28457852/identification-of-a-novel-de-novo-nonsense-mutation-of-the-nsd1-gene-in-monozygotic-twins-discordant-for-sotos-syndrome
#12
Ji Yoon Han, In Goo Lee, Woori Jang, Soyoung Shin, Joonhong Park, Myungshin Kim
INTRODUCTION: Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. METHODOLOGY: The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and attention-deficit/hyperactivity disorder (ADHD) were found in the proband (first twin), but not in the sibling (second twin)...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28452870/every-minute-counts-time-to-delivery-of-initial-massive-transfusion-cooler-and-its-impact-on-mortality
#13
David E Meyer, Laura E Vincent, Erin E Fox, Terence OʼKeeffe, Kenji Inaba, Eileen Bulger, John B Holcomb, Bryan A Cotton
BACKGROUND: American College of Surgeons Trauma Quality Improvement Best Practices recommends initial massive transfusion (MT) cooler delivery within 15 minutes of protocol activation, with a goal of 10 minutes. The current study sought to examine the impact of timing of first cooler delivery on patient outcomes. METHODS: Patients predicted to receive MT at 12 Level I trauma centers were randomized to two separate transfusion ratios as described in the PROPPR trial...
July 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28447850/links-between-temporal-acuity-and-multisensory-integration-across-life-span
#14
Ryan A Stevenson, Sarah H Baum, Juliane Krueger, Paul A Newhouse, Mark T Wallace
The temporal relationship between individual pieces of information from the different sensory modalities is one of the stronger cues to integrate such information into a unified perceptual gestalt, conveying numerous perceptual and behavioral advantages. Temporal acuity, however, varies greatly over the life span. It has previously been hypothesized that changes in temporal acuity in both development and healthy aging may thus play a key role in integrative abilities. This study tested the temporal acuity of 138 individuals ranging in age from 5 to 80...
April 27, 2017: Journal of Experimental Psychology. Human Perception and Performance
https://www.readbyqxmd.com/read/28442762/first-you-need-a-gestalt-an-interaction-of-bottom-up-and-top-down-streams-during-the-perception-of-the-ambiguously-rotating-human-walker
#15
Alexander Pastukhov
Our visual system combines sensory evidence with prior knowledge to produce a representation of an outside world. Here, we explored the limits of the feedforward computation using an ambiguously rotating human biological motion. Specifically, we investigated whether an overall rotation, which was added to all the displays used in the study, would be perceived when the point-light walker was presented upside-down, a condition that typically obliterates perception of a human Gestalt. We report that inversion of the point-light walker or the absence of an identifiable Gestalt abolished the perception of an overall rotation...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28441104/gestalt-intervention-groups-for-anxious-parents-in-hong-kong-a-quasi-experimental-design
#16
Grace Suk Man Leung, Su Hean Khor
This study examined the impact of gestalt intervention groups for anxious Chinese parents in Hong Kong. A non-randomized control group pre-test/post-test design was adopted. A total of 156 parents participated in the project. After 4 weeks of treatment, the intervention group participants had lower anxiety levels, less avoidance of inner experiences, and more kindness towards oneself and mindfulness when compared to control group participants. However, the dimension of self-judgment remained unchanged. The adaptation of gestalt intervention to suit the Chinese culture was discussed...
May 2017: Journal of Evidence-informed Social Work
https://www.readbyqxmd.com/read/28411587/novel-stac3-mutations-in-the-first-non-amerindian-patient-with-native-american-myopathy
#17
Michelle Grzybowski, Anne Schänzer, Alexander Pepler, Corina Heller, Bernd A Neubauer, Andreas Hahn
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28400920/accuracy-of-gestalt-perception-of-acute-chest-pain-in-predicting-coronary-artery-disease
#18
Cláudio Marcelo Bittencourt das Virgens, Laudenor Lemos, Márcia Noya-Rabelo, Manuela Campelo Carvalhal, Antônio Maurício Dos Santos Cerqueira Junior, Fernanda Oliveira de Andrade Lopes, Nicole Cruz de Sá, Jéssica Gonzalez Suerdieck, Thiago Menezes Barbosa de Souza, Vitor Calixto de Almeida Correia, Gabriella Sant'Ana Sodré, André Barcelos da Silva, Felipe Kalil Beirão Alexandre, Felipe Rodrigues Marques Ferreira, Luís Cláudio Lemos Correia
AIM: To test accuracy and reproducibility of gestalt to predict obstructive coronary artery disease (CAD) in patients with acute chest pain. METHODS: We studied individuals who were consecutively admitted to our Chest Pain Unit. At admission, investigators performed a standardized interview and recorded 14 chest pain features. Based on these features, a cardiologist who was blind to other clinical characteristics made unstructured judgment of CAD probability, both numerically and categorically...
March 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28363616/an-end-user-s-guide-to-the-heart-score-and-pathway
#19
Brit Long, Joshua Oliver, Matthew Streitz, Alex Koyfman
BACKGROUND: Chest pain accounts for a significant percentage of emergency department (ED) presentations. The HEART score and pathway have demonstrated an ability to appropriately risk stratify and discharge from the ED a significant proportion of patients. OBJECTIVE: This review evaluates vital components of the HEART score and pathway, while discussing important considerations for current and future use. DISCUSSION: Chest pain is a common ED presentation, and several conditions associated with chest pain result in patient morbidity and mortality...
March 21, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28343958/simultanagnosia-does-not-affect-processes-of-auditory-gestalt-perception
#20
Johannes Rennig, Anna Lena Bleyer, Hans-Otto Karnath
Simultanagnosia is a neuropsychological deficit of higher visual processes caused by temporo-parietal brain damage. It is characterized by a specific failure of recognition of a global visual Gestalt, like a visual scene or complex objects, consisting of local elements. In this study we investigated to what extend this deficit should be understood as a deficit related to specifically the visual domain or whether it should be seen as defective Gestalt processing per se. To examine if simultanagnosia occurs across sensory domains, we designed several auditory experiments sharing typical characteristics of visual tasks that are known to be particularly demanding for patients suffering from simultanagnosia...
March 23, 2017: Neuropsychologia
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