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Clinical gestalt

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https://www.readbyqxmd.com/read/29310717/characterization-of-glycosylphosphatidylinositol-biosynthesis-defects-by-clinical-features-flow-cytometry-and-automated-image-analysis
#1
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N Robinson, Helenius J Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M Krawitz
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS)...
January 9, 2018: Genome Medicine
https://www.readbyqxmd.com/read/29287944/prediction-of-early-adverse-events-in-emergency-department-patients-with-acute-heart-failure-a-systematic-review
#2
REVIEW
Allison M Michaud, Shannon I A Parker, Heather Ganshorn, Justin A Ezekowitz, Andrew D McRae
BACKGROUND: Acute heart failure (AHF) accounts for a substantial proportion of Emergency Department (ED) visits and hospitalizations. Previous studies have shown that emergency physicians' clinical gestalt is not sufficient to stratify patients with AHF into severe and requiring hospitalization vs nonsevere and safe to be discharged. Various prognostic algorithms have been developed to risk-stratify patients with AHF, however there is no consensus as to the best-performing risk assessment tool in the ED...
September 12, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29276010/clinical-gestalt-versus-prognostic-scores-for-prognostication-of-patients-with-acute-symptomatic-pulmonary-embolism
#3
Carlos Andrés Quezada, Celia Zamarro, Vicente Gómez, Ina Guerassimova, Rosa Nieto, Esther Barbero, Diana Chiluiza, Deisy Barrios, Raquel Morillo, David Jiménez
BACKGROUND AND OBJECTIVE: To determine the accuracy of clinical gestalt to identify patients with acute symptomatic pulmonary embolism (PE) at low-risk for short-term complications. PATIENTS AND METHODS: This study included a total of 154 consecutive patients diagnosed with acute symptomatic PE in a tertiary university hospital. We compared the prognostic accuracy of the Pulmonary Embolism Severity Index (PESI), the simplified PESI (sPESI), and clinical gestalt of 1) 2senior physicians (one with and one without experience in the management of patients with PE), 2) a fourth-year resident of Pneumology, 3) a third-year resident of Pneumology, and 4) a second-year resident of Pneumology...
December 21, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29258477/computer-face-matching-technology-using-two-dimensional-photographs-accurately-matches-the-facial-gestalt-of-unrelated-individuals-with-the-same-syndromic-form-of-intellectual-disability
#4
Tracy Dudding-Byth, Anne Baxter, Elizabeth G Holliday, Anna Hackett, Sheridan O'Donnell, Susan M White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C Lovell
BACKGROUND: Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]...
December 19, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/29251714/early-identification-of-patients-requiring-massive-transfusion-embolization-or-hemostatic-surgery-for-traumatic-hemorrhage-a-systematic-review-and-meta-analysis
#5
Alexandre Tran, Maher Matar, Jacinthe Lampron, Ewout W Steyerberg, Monica Taljaard, Christian Vaillancourt
BACKGROUND: Delays in appropriate triage of bleeding trauma patients result in poor outcomes. Clinical gestalt is fallible and objective measures of risk stratification are needed. The objective of this review is to identify and assess prediction models and predictors for the early identification of traumatic hemorrhage patients requiring massive transfusion, surgery or embolization. METHODS: We searched electronic databases through to September 31st, 2016 for studies describing clinical, laboratory and imaging predictors available within the first hour of resuscitation for identifying patients requiring major intervention for hemorrhage within the first 24 hours...
December 14, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29248929/familial-x-y-translocation-encompassing-arse-in-two-moroccan-siblings-with-sensorineural-deafness
#6
Saadia Amasdl, Wiam Smaili, Abdelhafid Natiq, Amale Hassani, Aziza Sbiti, Aomar Agadr, Damien Sanlaville, Abdelaziz Sefiani
Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed...
December 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29191490/prognosticating-clinical-prediction-scores-without-clinical-gestalt-for-patients-with-chest-pain-in-the-emergency-department
#7
Chin Pang Wong, Chun Tat Lui, Jonathan Gabriel Sung, Ho Lam, Hin Tat Fung, Ping Wa Yam
BACKGROUND: Assessment of patients with chest pain is a regular challenge in the emergency department (ED). Recent guidelines recommended quantitative assessment of ischemic risk by means of risk scores. OBJECTIVE: Our aim was to assess the performance of Thrombosis in Myocardial Infarction (TIMI); Global Registry of Acute Coronary Events (GRACE); history, electrocardiogram, age, risk factors, and troponin (HEART) scores; and the North America Chest Pain Rule (NACPR) without components of clinical gestalt in predicting 30-day major adverse cardiac events (MACE)...
November 27, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29177926/can-physician-gestalt-predict-survival-in-patients-with-resectable-pancreatic-adenocarcinoma
#8
Linda M Pak, Mithat Gonen, Kenneth Seier, Vinod P Balachandran, Michael I D'Angelica, William R Jarnagin, T Peter Kingham, Peter J Allen, Richard K G Do, Amber L Simpson
PURPOSE: Clinician gestalt may hold unexplored information that can be capitalized upon to improve existing nomograms. The study objective was to evaluate physician ability to predict 2-year overall survival (OS) in resected pancreatic ductal adenocarcinoma (PDAC) patients based on pre-operative clinical characteristics and routine CT imaging. METHODS: Ten surgeons and two radiologists were provided with a clinical vignette (including age, gender, presenting symptoms, and pre-operative CA19-9 when available) and pre-operative CT scan for 20 resected PDAC patients and asked to predict the probability of each patient reaching 2-year OS...
November 24, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/29039752/aesthetic-diagnosis-in-gestalt-therapy
#9
Jan Roubal, Gianni Francesetti, Michela Gecele
The diagnostic process in psychotherapy using the aesthetic evaluation is described in this article. Unlike the classical diagnostic process, which presents a result of comparing clinicians´ observations with a diagnostic system (DSM, ICD, etc.), the aesthetic evaluation is a pre-reflexive, embodied, and preverbal process. A Gestalt Therapy theoretical frame is used to introduce a concept of the aesthetic diagnostic process. During this process, the clinicians use their own here-and-now presence, which takes part in the co-creation of the shared relational field during the therapeutic session...
October 17, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/29018000/waveform-capnography-an-alternative-to-physician-gestalt-in-determining-optimal-intubating-conditions-after-administration-of-paralytic-agents
#10
Anthony Scoccimarro, Jason R West, Marc Kanter, Nicholas D Caputo
PURPOSE: We sought to evaluate the utility of waveform capnography (WC) in detecting paralysis, by using apnoea as a surrogate determinant, as compared with clinical gestalt during rapid sequence intubation. Additionally, we sought to determine if this improves the time to intubation and first pass success rates through more consistent and expedient means of detecting optimal intubating conditions (ie, paralysis). METHODS: A prospective observational cohort study of consecutively enrolled patients was conducted from April to June 2016 at an academic, urban, level 1 trauma centre in New York City...
October 10, 2017: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/28941558/emergency-medicine-evaluation-of-community-acquired-pneumonia-history-examination-imaging-and-laboratory-assessment-and-risk-scores
#11
Brit Long, Drew Long, Alex Koyfman
BACKGROUND: Pneumonia is a common infection, accounting for approximately one million hospitalizations in the United States annually. This potentially life-threatening disease is commonly diagnosed based on history, physical examination, and chest radiograph. OBJECTIVE: To investigate emergency medicine evaluation of community-acquired pneumonia including history, physical examination, imaging, and the use of risk scores in patient assessment. DISCUSSION: Pneumonia is the number one cause of death from infectious disease...
November 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28934384/short-syndrome-due-to-a-novel-de-novo-mutation-in-prkce-protein-kinase-c%C3%A9-impairing-torc2-dependent-akt-activation
#12
Diana Alcantara, Frances Elmslie, Martine Tetreault, Eric Bareke, Taila Hartley, Jacek Majewski, Kym Boycott, A Micheil Innes, David A Dyment, Mark O'Driscoll
SHORT syndrome is a rare, recognizable syndrome resulting from heterozygous mutations in PIK3R1 encoding a regulatory subunit of phosphoinositide-3-kinase (PI3K). The condition is characterized by short stature, intrauterine growth restriction, lipoatrophy and a facial gestalt involving a triangular face, deep set eyes, low hanging columella and small chin. PIK3R1 mutations in SHORT syndrome result in reduced signaling through the PI3K-AKT-mTOR pathway. We performed whole exome sequencing for an individual with clinical features of SHORT syndrome but negative for PIK3R1 mutation and her parents...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28921731/interobserver-agreement-in-pediatric-cervical-spine-injury-assessment-between-prehospital-and-emergency-department-providers
#13
Lorin R Browne, Hamilton Schwartz, Fahd A Ahmad, Michael Wallendorf, Nathan Kuppermann, E Brooke Lerner, Julie C Leonard
BACKGROUND: Investigators have derived cervical spine injury (CSI) decision support tools from physician observations. There is a need to demonstrate that prehospital emergency medical services (EMS) providers can use these tools to appropriately determine the need for spinal motion restrictions and make field disposition decisions. OBJECTIVES: The objective was to determine the interobserver agreement between EMS and emergency department (ED) providers for CSI risk assessment variables and overall gestalt for CSI in children after blunt trauma...
September 18, 2017: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/28844262/clinical-decision-aids-or-clinician-gestalt-hard-to-know-which-is-better-september-2017-annals-of-emergency-medicine-journal-club
#14
Deborah J Williams, Robert L Wears
No abstract text is available yet for this article.
September 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/28835851/a-survey-of-canadian-nephrologists-assessing-prognostication-in-end-stage-renal-disease
#15
Brian Forzley, Helen H L Chiu, Ognjenka Djurdjev, Rachel C Carson, Gaylene Hargrove, Dan Martinusen, Mohamud Karim
BACKGROUND: Patients with end-stage renal disease (ESRD) frequently have a relatively poor prognosis with complex care needs that depend on prognosis. While many means of assessing prognosis are available, little is known about how Canadian nephrologists predict prognosis, whether they routinely share prognostic information with their patients, and how this information guides management. OBJECTIVE: To guide improvements in the management of patients with ESRD, we aimed to better understand how Canadian nephrologists consider prognosis during routine care...
2017: Canadian Journal of Kidney Health and Disease
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
#16
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 12, 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
#17
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
#18
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/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
#19
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...
September 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
#20
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
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