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https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#1
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/27862989/predicting-and-preventing-peripheral-intravenous-cannula-insertion-failure-in-the-emergency-department-clinician-gestalt-wins-again
#2
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
#3
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
#4
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
#5
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/27705751/before-and-after-nutritional-transformation-of-dysmorphism-in-a-case-of-costello-syndrome
#6
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/27639424/best-clinical-practice-blood-culture-utility-in-the-emergency-department
#7
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
https://www.readbyqxmd.com/read/27437048/guiding-principles-for-a-pediatric-neurology-icu-neuropicu-bedside-multimodal-monitor-findings-from-an-international-working-group
#8
Zachary M Grinspan, Yonina C Eldar, Daniel Gopher, Amihai Gottlieb, Rotem Lammfromm, Halinder S Mangat, Nimrod Peleg, Steven Pon, Igal Rozenberg, Nicholas D Schiff, David E Stark, Peter Yan, Hillel Pratt, Barry E Kosofsky
BACKGROUND: Physicians caring for children with serious acute neurologic disease must process overwhelming amounts of physiological and medical information. Strategies to optimize real time display of this information are understudied. OBJECTIVES: Our goal was to engage clinical and engineering experts to develop guiding principles for creating a pediatric neurology intensive care unit (neuroPICU) monitor that integrates and displays data from multiple sources in an intuitive and informative manner...
2016: Applied Clinical Informatics
https://www.readbyqxmd.com/read/27372208/clinician-prediction-of-survival-versus-the-palliative-prognostic-score-which-approach-is-more-accurate
#9
David Hui, Minjeong Park, Diane Liu, Carlos Eduardo Paiva, Sang-Yeon Suh, Tatsuya Morita, Eduardo Bruera
BACKGROUND: Clinician prediction of survival (CPS) has low accuracy in the advanced cancer setting, raising the need for prediction models such as the palliative prognostic (PaP) score that includes a transformed CPS (PaP-CPS) and five clinical/laboratory variables (PaP-without CPS). However, it is unclear if the PaP score is more accurate than PaP-CPS, and whether PaP-CPS helps to improve the accuracy of PaP score. We compared the accuracy among PaP-CPS, PaP-without CPS and PaP-total score in patients with advanced cancer...
September 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27312461/recognizable-facial-features-in-patients-with-alternating-hemiplegia-of-childhood
#10
Fiorella Gurrieri, Francesco Danilo Tiziano, Giuseppe Zampino, Giovanni Neri
Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by paroxystic episodes of alternating hemiplegia, variable degrees of intellectual disability, and dystonic movements. The main causative gene, ATP1A3, is also responsible for other neurodevelopmental disorders. While the neurological profile of this condition is well defined, the question whether a recognizable pattern of physical anomalies does exist in this condition is still open. We performed a morphological evaluation of 30 patients at different ages...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27294087/the-clinics-of-acute-coronary-syndrome
#11
REVIEW
Gianfranco Cervellin, Gianni Rastelli
Risk stratification and management of patients with chest pain continues to be challenging despite considerable efforts made in the last decades by many clinicians and researchers. The throutful evaluation necessitates that the physicians have a high index of suspicion for acute coronary syndrome (ACS) and always keep in mind the myriad of often subtle and atypical presentations of ischemic heart disease, especially in certain patient populations such as the elderly ones. In this article we aim to review and discuss the available evidence on the value of clinical presentation in patients with a suspected ACS, with special emphasis on history, characteristics of chest pain, associated symptoms, atypical presentations, precipitating and relieving factors, drugs, clinical rules and significance of clinical Gestalt...
May 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27289503/the-use-of-computed-tomography-scans-and-the-bender-gestalt-test-in-the-assessment-of-competency-to-stand-trial-and-criminal-responsibility-in-the-field-of-mental-health-and-law
#12
Nathaniel Lehlohonolo Mosotho, Ino Timile, Gina Joubert
computed tomography and the Bender Gestalt Test are some of the tests used routinely for the assessment of alleged offenders referred under Sections 77 and 78 of the Criminal Procedure Act 51 of 1977. An exploratory retrospective study was conducted at the Free State Psychiatric Complex. The aim of this study was to identify the extent to which the Bender Gestalt Test results and the computed tomography scans are associated with outcomes in the assessment of competency to stand trial and criminal responsibility in individuals referred to the Free State Psychiatric Complex (FSPC) observation unit...
June 8, 2016: International Journal of Law and Psychiatry
https://www.readbyqxmd.com/read/27150104/pilot-study-of-the-importance-of-factors-affecting-emergency-department-opioid-analgesic-prescribing-decisions
#13
Adam C Pomerleau, Justin D Schrager, Brent W Morgan
INTRODUCTION: Little is known about the factors driving decision-making among emergency department (ED) providers when prescribing opioid analgesics (OA). The aim of this pilot study was to identify the importance of factors influencing OA-prescribing decisions and to determine how this varied among different types of providers. METHODS: This was an observational cross-sectional survey study of 203 ED providers. The importance of decisional factors was rated on a 5-point Likert scale...
September 2016: Journal of Medical Toxicology: Official Journal of the American College of Medical Toxicology
https://www.readbyqxmd.com/read/26935714/prospective-evaluation-of-the-ability-of-clinical-scoring-systems-and-physician-determined-likelihood-of-appendicitis-to-obviate-the-need-for-ct
#14
Sean K Golden, John B Harringa, Perry J Pickhardt, Alexander Ebinger, James E Svenson, Ying-Qi Zhao, Zhanhai Li, Ryan P Westergaard, William J Ehlenbach, Michael D Repplinger
OBJECTIVE: To determine whether clinical scoring systems or physician gestalt can obviate the need for computed tomography (CT) in patients with possible appendicitis. METHODS: Prospective, observational study of patients with abdominal pain at an academic emergency department (ED) from February 2012 to February 2014. Patients over 11 years old who had a CT ordered for possible appendicitis were eligible. All parameters needed to calculate the scores were recorded on standardised forms prior to CT...
July 2016: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/26866722/tatton-brown-rahman-syndrome-due-to-2p23-microdeletion
#15
Nobuhiko Okamoto, Yasuhisa Toribe, Keiko Shimojima, Toshiyuki Yamamoto
Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. Mutation carriers show a distinctive facial appearance, intellectual disability, and increased height. We report a patient with overgrowth who showed submicroscopic deletion of chromosome 2p23 including DNMT3A. The deletion was detected by array-CGH. He showed moderate ID and distinctive facial gestalt. His clinical features were consistent with those of Tatton-Brown-Rahman syndrome. We suggest that 2p23 microdeletion including DNMT3A may cause similar symptoms in patients with DNMT3A mutations and should be considered in patients with overgrowth...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26843489/mutations-in-exosc2-are-associated-with-a-novel-syndrome-characterised-by-retinitis-pigmentosa-progressive-hearing-loss-premature-ageing-short-stature-mild-intellectual-disability-and-distinctive-gestalt
#16
Nataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, Barbara Klink, Karl Hackmann, Irmingard Neuhann, Barbora Novotna, Jens Schallner, Claudia Krause, Ian A Glass, Shawn E Parnell, Anna Benet-Pages, Anke M Nissen, Wolfgang Berger, Janine Altmüller, Holger Thiele, Bernhard H F Weber, Evelin Schrock, William B Dobyns, Andrea Bier, Andreas Rump
BACKGROUND: Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. METHODS: Clinical ascertainment of three similar affected patients followed by whole exome sequencing. RESULTS: Three individuals from two unrelated German families presented with a novel Mendelian disorder encompassing childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability...
June 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26792575/novel-ift122-mutations-in-three-argentinian-patients-with-cranioectodermal-dysplasia-expanding-the-mutational-spectrum
#17
Shahida Moosa, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Virginia Fano, Bernd Wollnik
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, skeletal abnormalities, and ectodermal features. To date, four genes have been shown to underlie the syndrome, namely, IFT122 (WDR10), WDR35 (IFT121), IFT43 (C14orf179), and WDR19 (IFT144). Clinical characterization of a larger cohort of patients with CED has been undertaken previously. Nevertheless, there are too few molecularly confirmed patients reported in the literature to determine precise genotype-phenotype correlations...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26765342/expanding-the-clinical-and-mutational-spectrum-of-the-ehlers-danlos-syndrome-dermatosparaxis-type
#18
Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Simsek-Kiper, Hester Y Kroes, Koen Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait
PURPOSE: The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of types I, II, and III procollagen. Only 10 EDS dermatosparaxis patients have been reported, all presenting a recognizable phenotype with characteristic facial gestalt, extreme skin fragility and laxity, excessive bruising, and sometimes major complications due to visceral and vascular fragility...
September 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/26714209/diagnostic-and-therapeutic-yield-of-endoscopy-in-patients-with-elevated-inr-and-gastrointestinal-bleeding
#19
Joanna M Peloquin, Siamak M Seraj, Lindsay Y King, Emily J Campbell, Ashwin N Ananthakrishnan, James M Richter
BACKGROUND: Gastrointestinal bleeding is a well-known risk of systemic anticoagulation. However, bleeding in the setting of supratherapeutic anticoagulation may have a milder natural history than unprovoked bleeding. It is a common clinical gestalt that endoscopy is common, but bleeding source identification or intervention is uncommon, yet few data exist to inform this clinical impression. Consequently, we sought to examine our institutional experience with gastrointestinal bleeding in the setting of supratherapeutic international normalized ratio (INR) with the aim of identifying predictors of endoscopically identifiable lesions, interventions, and outcomes...
June 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/26663098/recognition-of-the-cornelia-de-lange-syndrome-phenotype-with-facial-dysmorphology-novel-analysis
#20
L Basel-Vanagaite, L Wolf, M Orin, L Larizza, C Gervasini, I D Krantz, M A Deardoff
Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of genetic syndromes. These technologies automatically detect facial points and extract various measurements from images to recognize dysmorphic features and evaluate similarities to known facial patterns (gestalts). To evaluate such systems' usefulness for supporting the clinical practice of healthcare professionals, the recognition accuracy of the Cornelia de Lange syndrome (CdLS) phenotype was examined with FDNA's automated facial dysmorphology novel analysis (FDNA) technology...
May 2016: Clinical Genetics
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