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evans syndrome

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https://www.readbyqxmd.com/read/29244146/ezh2-mutations-found-in-the-weaver-overgrowth-syndrome-cause-a-partial-loss-of-h3k27-histone-methyltransferase-activity
#1
Julian C Lui, Kevin M Barnes, Lijin Dong, Shanna Yue, Evan Graber, Robert Rapaport, Andrew Dauber, Ola Nilsson, Jeffrey Baron
Context: Weaver syndrome is characterized by tall stature, advanced bone age, characteristic facies, and variable intellectual disability. It is caused by heterozygous mutations in EZH2, a histone methyltransferase responsible for H3K27 trimethylation. However, no early truncating mutations have been identified, suggesting that null mutations do not cause Weaver syndrome. Objective: To test alternative hypotheses that EZH2 variants found in Weaver syndrome either cause a gain of function or a partial loss of function...
December 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29223724/vasoplegia-after-cardiovascular-procedures-pathophysiology-and-targeted-therapy
#2
REVIEW
Shahzad Shaefi, Aaron Mittel, John Klick, Adam Evans, Natalia S Ivascu, Jacob Gutsche, John G T Augoustides
Vasoplegic syndrome, characterized by low systemic vascular resistance and hypotension in the presence of normal or supranormal cardiac function, is a frequent complication of cardiovascular surgery. It is associated with a diffuse systemic inflammatory response and is mediated largely through cellular hyperpolarization, high levels of inducible nitric oxide, and a relative vasopressin deficiency. Cardiopulmonary bypass is a particularly strong precipitant of the vasoplegic syndrome, largely due to its association with nitric oxide production and severe vasopressin deficiency...
October 27, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29218325/protection-of-meconium-induced-lung-epithelial-injury-by-protease-inhibitors
#3
C Ota, I Gopallawa, V Ivanov, I H Gewolb, B D Uhal
Earlier work form this laboratory showed that exposure of alveolar epithelial cells (AECs) to meconium caused significant cell detachment and that meconium-induced detachment of cells was prevented by a protease inhibitor cocktail. Therefore, it was hypothesized that protease inhibitors might protect AEC monolayers against meconium-induced collapse of epithelial barrier function both in vitro and in vivo. To investigate this theory in vitro, albumin flux was measured across cultured, confluent monolayers of human type II derived cell line A549 on microporous filter inserts...
2017: Journal of Lung, Pulmonary & Respiratory Research
https://www.readbyqxmd.com/read/29217025/correlation-of-novel-pax6-gene-abnormalities-in-aniridia-and-clinical-presentation
#4
Naif S Sannan, Cheryl Y Gregory-Evans, Christopher J Lyons, Anna M Lehman, Sylvie Langlois, Simon J Warner, Helen Zakrzewski, Kevin Gregory-Evans
OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29210907/musculoskeletal-development-in-patients-with-down-syndrome
#5
Corey Dupre, Emily Weidman-Evans
Down syndrome is a chromosomal aneuploidy that results in disruptions in multiple body systems, including musculoskeletal function. Early intervention to focus on bone mineral density, gait correction, agility, balance, and muscle strength is imperative in order for patients to achieve maximum potential.
December 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/29209020/a-genotype-first-approach-identifies-an-intellectual-disability-overweight-syndrome-caused-by-phip-haploinsufficiency
#6
Sandra Jansen, Alexander Hoischen, Bradley P Coe, Gemma L Carvill, Hilde Van Esch, Daniëlle G M Bosch, Ulla A Andersen, Carl Baker, Marijke Bauters, Raphael A Bernier, Bregje W van Bon, Hedi L Claahsen-van der Grinten, Jozef Gecz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J Larsen, Carlo Marcelis, Fiona McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke H Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J C Stevens, Connie T Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A Veltman, Han G Brunner, Heather C Mefford, Corrado Romano, Lisenka E L M Vissers, Evan E Eichler, Bert B A de Vries
Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID...
December 5, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29205458/multi-disciplinary-management-of-refractory-insulinomas
#7
Emily Brown, Daniel Watkin, Jonathan Evans, Vincent Yip, Daniel J Cuthbertson
Insulinomas are predominantly benign (~90%), pancreatic neuroendocrine tumours characterised by hyperinsulinaemic hypoglycaemia. They usually present as a small (<2cm), well demarcated, solitary nodule that can arise in any part of the organ. Treatment of sporadic insulinomas is generally aimed at curative surgical resection with special consideration in genetic syndromes. Patients with significant hypoglycaemia can pose a difficult management challenge. In isolated cases where the patient is not medically fit for surgery or with metastatic spread, other treatment options are employed...
December 4, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29204512/brca-and-lynch-syndrome-associated-ovarian-cancers-behave-differently
#8
Neil A J Ryan, James Bolton, Rhona J McVey, D Gareth Evans, Emma J Crosbie
No abstract text is available yet for this article.
November 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/29188550/udp-induced-relaxation-is-enhanced-in-aorta-from-female-obese-otsuka-long-evans-tokushima-fatty-rats
#9
Shota Kobayashi, Takayuki Matsumoto, Makoto Ando, Maika Iguchi, Shun Watanabe, Kumiko Taguchi, Tsuneo Kobayashi
Uridine 5'-diphosphate (UDP) plays an important role in controlling vascular tone; however, UDP-mediated response in metabolic syndromes, including obesity and type 2 diabetes in females, remains unclear. In this study, we investigated UDP-mediated response in the aorta of female obese Otsuka Long-Evans Tokushima Fatty (OLETF) rats and control Long-Evans Tokushima Otsuka (LETO) rats. In OLETF rat aortas precontracted by phenylephrine (PE) (vs. LETO), (1) UDP-induced relaxation was increased, whereas acetylcholine (ACh)-induced relaxation was decreased; (2) no UDP- or ACh-induced relaxations were observed in endothelial denudation, whereas UDP-induced small contraction was observed; and (3) NG-nitro-L-arginine [L-NNA, a nitric oxide (NO) synthase inhibitor] eliminated UDP-induced relaxation and small contraction, whereas caused contrasting responses by ACh, including slight relaxations (LETO) and contractions (OLETF)...
November 29, 2017: Purinergic Signalling
https://www.readbyqxmd.com/read/29181379/molecular-autopsy-for-sudden-death-in-the-young-is-data-aggregation-the-key
#10
Manuel Rueda, Jennifer L Wagner, Tierney C Phillips, Sarah E Topol, Evan D Muse, Jonathan R Lucas, Glenn N Wagner, Eric J Topol, Ali Torkamani
The Scripps molecular autopsy study seeks to incorporate genetic testing into the postmortem examination of cases of sudden death in the young (<45 years old). Here, we describe the results from the first 2 years of the study, which consisted of whole exome sequencing (WES) of a cohort of 50 cases predominantly from San Diego County. Apart from the individual description of cases, we analyzed the data at the cohort-level, which brought new perspectives on the genetic causes of sudden death. We investigated the advantages and disadvantages of using WES compared to a gene panel for cardiac disease (usually the first genetic test used by medical examiners)...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29181179/efficacy-of-bendamustine-on-thrombocytopenia-and-hemolytic-anemia-secondary-to-cd5-positive-b-cell-lymphoma-with-massive-splenomegaly-in-a-patient-with-rheumatoid-arthritis
#11
Yuzuru Hosoda, Hiroshi Hagino, Norihiko Hino, Toru Motokura
Chemotherapy for lymphoma may be avoided in the presence of coincident cytopenia. In case of immune cytopenia secondary to lymphoma, treatment of cytopenia is the same for primary cases, however, chemotherapy for lymphoma may be effective at the cost of severe hematological toxicity. The present study reports a complex case of thrombocytopenia and direct antiglobulin test-negative hemolytic anemia, thus mimicking Evans syndrome, secondary to cluster of differentiation 5-positive B-cell lymphoma with massive splenomegaly, in a patient suffering from rheumatoid arthritis for two decades...
November 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29169256/tolosa-hunt-syndrome-appraising-the-ichd-3-beta-diagnostic-criteria
#12
Evan Mullen, Mark Green, Eliza Hersh, Alfred-Marc Iloreta, Joshua Bederson, Raj Shrivastava
Introduction The term Tolosa-Hunt Syndrome was first used more than half a century ago to describe painful ophthalmoplegia accompanied by cranial nerve palsies. In the decades since, its diagnostic criteria have evolved considerably. The beta version of the 3rd Edition of the International Classification of Headache Disorders narrows these criteria to require the demonstration of granulomatous inflammation on MRI or biopsy. We believe this may introduce challenges to accurate diagnosis. Discussion Requiring the demonstration of granulomatous inflammation for a diagnosis of Tolosa-Hunt Syndrome may introduce the potential for false negative and false positive diagnoses...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29164157/inflammatory-breast-cancer-and-warm-antibody-autoimmune-hemolytic-anemia-a-rare-paraneoplastic-syndrome
#13
Nene Ugoeke, Chidinma Onweni, Jennifer Treece, Vandana Pai, Sowminya Arikapudi, Evan Kulbacki, Kailash Bajaj
Autoimmune hemolytic anemia (AIHA) is a disease process that involves the destruction of red blood cells mediated by the humoral immune system. It can be characterized as a cold agglutinin syndrome, paroxysmal cold hemoglobinuria, and warm, mixed type, and drug-induced AIHA. Although a well-established relationship exists between the presence of AIHA and lymphoproliferative malignancy, AIHA rarely presents in association with solid malignancies. An analysis of the limited number of published cases of AIHA in association with solid malignancies performed showed that AIHA may present before the diagnosis of a solid malignancy, concurrently with the presence of a solid malignancy, or even on resolution of a solid malignancy...
October 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29163997/evans-syndrome-complicated-by-intratubular-hemoglobin-cast-nephropathy
#14
Iván González, Rehan Rais, Joseph P Gaut, Louis P Dehner
Evans syndrome (ES) is a rare autoimmune disorder whose exact pathophysiology is unknown. It is characterized by the simultaneous or subsequent development of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP). Intravascular hemolysis, with hemoglobinemia, is known to produce acute kidney injury; however, the development of intratubular hemoglobin casts (hemoglobin cast nephropathy) in the setting of acute hemolysis is uncommon. Likewise, the association of ES and acute renal failure is equally uncommon...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29159970/parental-education-accounts-for-variability-in-the-iqs-of-probands-with-down-syndrome-a-longitudinal-study
#15
David W Evans, Mirko Uljarević
Recent work has demonstrated that variability in probands' phenotypes, including physical features, cognitive abilities, social functioning, and other developmental domains, is influenced by parental traits. Here we examine the role of parental education as a factor contributing to the variability of intelligence quotient (IQ) of offspring with trisomy 21. Participants were 43 probands with trisomy 21, aged 4-21 years of age, and their parents. Data were collected on parental education, and a bi-parental mean education score (BMES) was calculated...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29158174/impact-of-cystectomy-with-urinary-diversion-upon-tracked-receipt-of-opioid-prescriptions-among-patients-with-interstitial-cystitis-bladder-pain-syndrome
#16
David S Koslov, Fernandino Vilson, Marc Colaco, Ryan P Terlecki, Robert J Evans
OBJECTIVES: To compare opioid requirements before and after cystectomy for end stage Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS) using a statewide tracking system. METHODS: Narcotic prescriptions were captured using the North Carolina Controlled Substance Reporting System for patients at a single institute undergoing cystectomy with urinary diversion (CWUD) for refractory, end stage IC/BPS between 2010-2017. Values were documented for the year before and the year after surgery (excluding 30 days postoperatively to account for surgical pain) and converted to Morphine Equivalents (ME)...
November 17, 2017: Urology
https://www.readbyqxmd.com/read/29151894/-fast-cast-and-needle-tenotomy-protocols-with-the-ponseti-method-to-improve-clubfoot-management-in-bangladesh
#17
Angela Evans, Mamun Chowdhury, Sohel Rana, Shariar Rahman, Abu Hena Mahboob
Background: The management of congenital talipes equino varus (clubfoot deformity) has been transformed in the last 20 years as surgical correction has been replaced by the non-surgical Ponseti method. The Ponseti method, consists of corrective serial casting followed by maintenance bracing, and has been repeatedly demonstrated to give best results - regarded as the 'gold standard' treatment for paediatric clubfoot. Methods: To develop the study protocol Level 2 evidence was used to modify the corrective casting phase of the Ponseti method in children aged up to 12 months...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/29150856/defining-sepsis-on-the-wards-results-of-a-multi-centre-point-prevalence-study-comparing-two-sepsis-definitions
#18
T Szakmany, R Pugh, M Kopczynska, R M Lundin, B Sharif, P Morgan, G Ellis, J Abreu, S Kulikouskaya, K Bashir, L Galloway, H Al-Hassan, T Grother, P McNulty, S T Seal, A Cains, M Vreugdenhil, M Abdimalik, N Dennehey, G Evans, J Whitaker, E Beasant, C Hall, M Lazarou, C V Vanderpump, K Harding, L Duffy, A Guerrier Sadler, R Keeling, C Banks, S W Y Ng, S Y Heng, D Thomas, E W Puw, I Otahal, C Battle, O Minik, R A Lyons, J E Hall
Our aim was to prospectively determine the predictive capabilities of SEPSIS-1 and SEPSIS-3 definitions in the emergency departments and general wards. Patients with National Early Warning Score (NEWS) of 3 or above and suspected or proven infection were enrolled over a 24-h period in 13 Welsh hospitals. The primary outcome measure was mortality within 30 days. Out of the 5422 patients screened, 431 fulfilled inclusion criteria and 380 (88%) were recruited. Using the SEPSIS-1 definition, 212 patients had sepsis...
November 17, 2017: Anaesthesia
https://www.readbyqxmd.com/read/29136110/meta-connectomic-analysis-reveals-commonly-disrupted-functional-architectures-in-network-modules-and-connectors-across-brain-disorders
#19
Zhiqiang Sha, Mingrui Xia, Qixiang Lin, Miao Cao, Yanqing Tang, Ke Xu, Haiqing Song, Zhiqun Wang, Fei Wang, Peter T Fox, Alan C Evans, Yong He
Neuropsychiatric disorders are increasingly conceptualized as disconnection syndromes that are associated with abnormal network integrity in the brain. However, whether different neuropsychiatric disorders show commonly dysfunctional connectivity architectures in large-scale brain networks remains largely unknown. Here, we performed a meta-connectomic study to identify disorder-related functional modules and brain regions by combining meta-analyses of 182 published resting-state functional MRI studies in 11 neuropsychiatric disorders and graph-theoretical analyses of 3 independent resting-state functional MRI datasets with healthy and diseased populations (Alzheimer's disease and major depressive disorder [MDD])...
November 9, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29117797/obesity-and-metabolic-syndrome-in-copd-is-exercise-the-answer
#20
Benjamin D James, Amy V Jones, Ruth E Trethewey, Rachael A Evans
Approximately half of all patients with chronic obstructive pulmonary disease (COPD) attending pulmonary rehabilitation (PR) programmes are overweight or obese which negatively impacts upon dyspnoea and exercise tolerance particularly when walking. Within the obese population (without COPD), the observed heterogeneity in prognosis is in part explained by the variability in the risk of developing cardiovascular disease or diabetes (cardiometabolic risk) leading to the description of metabolic syndrome. In obesity alone, high-intensity aerobic training can support healthy weight loss and improve the constituent components of metabolic syndrome...
January 1, 2017: Chronic Respiratory Disease
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