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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
#1
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
#2
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/28562391/pierpont-syndrome-report-of-a-new-patient
#3
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
#4
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/28462208/diagnosis-of-the-ocd-patients-using-drawing-features-of-the-bender-gestalt-shapes
#5
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
#6
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/28400920/accuracy-of-gestalt-perception-of-acute-chest-pain-in-predicting-coronary-artery-disease
#7
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/28285867/a-modified-lung-and-cardiac-ultrasound-protocol-saves-time-and-rules-in-the-diagnosis-of-acute-heart-failure
#8
Frances M Russell, Robert R Ehrman
BACKGROUND: Multiorgan ultrasound (US), which includes evaluation of the lungs and heart, is an accurate method that outperforms clinical gestalt for diagnosing acutely decompensated heart failure (ADHF). A known barrier to ultrasound use is the time needed to perform these examinations. OBJECTIVE: The primary goal of this study was to determine the test characteristics of a modified lung and cardiac US (LuCUS) protocol for the accurate diagnosis of ADHF. METHODS: This was a secondary analysis of a prospective observational study that enrolled adult patients presenting to the emergency department with undifferentiated dyspnea...
March 9, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28262317/individual-gestalt-is-unreliable-for-the-evaluation-of-quality-in-medical-education-blogs-a%C3%A2-metriq-study
#9
Brent Thoma, Stefanie S Sebok-Syer, Keeth Krishnan, Marshall Siemens, N Seth Trueger, Isabelle Colmers-Gray, Rob Woods, Emil Petrusa, Teresa Chan
STUDY OBJECTIVE: Open educational resources such as blogs are increasingly used for medical education. Gestalt is generally the evaluation method used for these resources; however, little information has been published on it. We aim to evaluate the reliability of gestalt in the assessment of emergency medicine blogs. METHODS: We identified 60 English-language emergency medicine Web sites that posted clinically oriented blogs between January 1, 2016, and February 24, 2016...
March 2, 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/28202196/vulvar-postoperative-care-gestalt-or-evidence-based-medicine-a-comprehensive-systematic-review
#10
REVIEW
Alon D Altman, Christine Robinson
OBJECTIVE: This paper reviews all current literature for vulvar postoperative care, and forms a summary of evidence based practice. DATA SOURCES: Scopus, Cochrane Library, CINHAL, Web of Science Core Collection, PubMed, Embase, Google Scholar, clinicaltrials.gov and Medline databases were searched. METHODS OF STUDY SELECTION: Various combinations of key-terms were used to identify relevant articles. All identified primary research articles and review articles were then examined with their references in order to identify further relevant studies...
February 12, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28096845/cognitive-impairment-after-sudden-cardiac-arrest
#11
Magdalena Jaszke-Psonka, Magdalena Piegza, Piotr Ścisło, Robert Pudlo, Jacek Piegza, Karina Badura-Brzoza, Aleksandra Leksowska, Robert T Hese, Piotr W Gorczyca
AIM: To evaluate the incidence and severity of the impairment of selected cognitive functions in patients after sudden cardiac arrest (SCA) in comparison to patients after myocardial infarction without SCA and healthy subjects and to analyze the influence of sociodemographic and clinical parameters and the duration of cardiac arrest on the presence and severity of the described disorders. MATERIAL AND METHODS: The study group comprised 30 cardiac arrest survivors, the reference group comprised 31 survivors of myocardial infarction without cardiac arrest, and the control group comprised 30 healthy subjects...
December 2016: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28030422/factors-influencing-mini-cex-rater-judgments-and-their-practical-implications-a-systematic-literature-review
#12
Victor Lee, Keira Brain, Jenepher Martin
PURPOSE: At present, little is known about how mini-clinical evaluation exercise (mini-CEX) raters translate their observations into judgments and ratings. The authors of this systematic literature review aim both to identify the factors influencing mini-CEX rater judgments in the medical education setting and to translate these findings into practical implications for clinician assessors. METHOD: The authors searched for internal and external factors influencing mini-CEX rater judgments in the medical education setting from 1980 to 2015 using the Ovid MEDLINE, PsycINFO, ERIC, PubMed, and Scopus databases...
June 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#13
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
#14
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
#15
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...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27862989/predicting-and-preventing-peripheral-intravenous-cannula-insertion-failure-in-the-emergency-department-clinician-gestalt-wins-again
#16
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
#17
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/27832746/exome-sequencing-identifies-pathogenic-variants-of-vps13b-in-a-patient-with-familial-16p11-2-duplication
#18
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/27804958/dominant-variants-in-the-splicing-factor-puf60-cause-a-recognizable-syndrome-with-intellectual-disability-heart-defects-and-short-stature
#19
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...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27705751/before-and-after-nutritional-transformation-of-dysmorphism-in-a-case-of-costello-syndrome
#20
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...
November 2016: European Journal of Medical Genetics
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