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https://www.readbyqxmd.com/read/29655994/peripartum-anaesthetic-management-of-a-patient-with-brugada-syndrome-and-myoadenylate-deaminase-deficiency
#1
H Dawe, R Wendler, E Evans, S Hammond
Brugada syndrome is a rare electrophysiological cardiac disease which can result in serious arrhythmias and sudden cardiac death. Peripartum management is centred around avoiding arrhythmogenic drugs, including high doses of sodium channel blocking drugs such as bupivacaine. Myoadenylate deaminase deficiency, also known as adenosine monophosphate deaminase deficiency, is the commonest cause of myopathy in Caucasians. There is evidence that myoadenylate deaminase deficiency can predispose patients to developing malignant hyperthermia when exposed to specific anaesthetic agents...
March 2, 2018: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29627131/treatment-of-toxic-epidermal-necrolysis-by-a-multidisciplinary-team-a-review-of-literature-and-treatment-results
#2
Anthony Papp, Sheena Sikora, Morgan Evans, Diana Song, Mark Kirchhof, Monica Miliszewski, Jan Dutz
BACKGROUND: Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are mucocutaneous hypersensitivity reactions, usually to drugs or their metabolites. TEN is the most severe involving greater than 30% of the total body surface area (TBSA). Management of these patients usually benefits from a large multidisciplinary team for both wound and medical management. Treatment of these patients varies between centers and physicians and there is lack of a standardized treatment protocol in the medical literature...
April 4, 2018: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/29621375/findings-linking-mismatch-repair-mutation-with-age-at-endometrial-and-ovarian-cancer-onset-in-lynch-syndrome-reply
#3
Emma J Crosbie, Neil A J Ryan, D Gareth Evans
No abstract text is available yet for this article.
April 5, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#4
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29579119/high-levels-of-caregiver-burden-in-prader-willi-syndrome
#5
Nathalie Kayadjanian, Lauren Schwartz, Evan Farrar, Katherine Anne Comtois, Theresa V Strong
OBJECTIVES: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that is characterized by hyperphagia, developmental delay, incomplete sexual development, mild-to-moderate intellectual disability, and a variety of challenging behavioral and psychiatric symptoms. The characteristics of PWS can be difficult for caregivers to cope with and are likely to cause significant and long- term caregiver burden. The current study examined burden in 142 caregivers of children and adults with PWS living in the US using the Zarit Burden Interview (ZBI)...
2018: PloS One
https://www.readbyqxmd.com/read/29563339/germline-mutations-in-the-alternative-pathway-of-complement-predispose-to-hellp-syndrome
#6
Arthur J Vaught, Evan M Braunstein, Jagar Jasem, Xuan Yuan, Igor Makhlin, Solange Eloundou, Andrea C Baines, Samuel A Merrill, Shruti Chaturvedi, Karin Blakemore, C John Sperati, Robert A Brodsky
BACKGROUND: HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome is a severe variant of hypertensive disorders of pregnancy affecting approximately 1% of all pregnancies, and has significant maternal and fetal morbidity. Previously, we showed that upregulation of the alternative pathway of complement (APC) plays a role in HELLP syndrome. We hypothesize that HELLP syndrome follows a 2-hit disease model similar to atypical hemolytic uremic syndrome (aHUS), requiring both genetic susceptibility and an environmental risk factor...
March 22, 2018: JCI Insight
https://www.readbyqxmd.com/read/29562478/-cerebral-venous-sinus-thrombosis-associated-with-evans-syndrome-a-case-report-and-literatures-review
#7
H S Wang, S S Liu, B Z Jiao, Y H Tan, S J Gao
No abstract text is available yet for this article.
March 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29553032/dairy-product-consumption-and-its-association-with-metabolic-disturbance-in-a-prospective-study-of-urban-adults
#8
May A Beydoun, Marie T Fanelli-Kuczmarski, Hind A Beydoun, Greg A Dore, Jose A Canas, Michele K Evans, Alan B Zonderman
The role of dairy foods and related nutrients in cardiometabolic health aetiology is poorly understood. We investigated longitudinal associations between the metabolic syndrome (MetS) and its components with key dairy product exposures. We used prospective data from a bi-racial cohort of urban adults (30-64 years at baseline (n 1371)), the Healthy Aging in Neighborhoods of Diversity across the Life Span (HANDLS), in Baltimore City, MD (2004-2013). The average of two 24-h dietary recalls measured 4-10 d apart was computed at baseline (V1) and follow-up (V2) waves...
March 2018: British Journal of Nutrition
https://www.readbyqxmd.com/read/29550074/phase-i-study-of-intrapleural-gene-mediated-cytotoxic-immunotherapy-in-patients-with-malignant-pleural-effusion
#9
Charu Aggarwal, Andrew R Haas, Susan Metzger, Laura K Aguilar, Estuardo Aguilar-Cordova, Andrea G Manzanera, Gregoria Gómez-Hernández, Sharyn I Katz, Evan W Alley, Tracey L Evans, Joshua M Bauml, Roger B Cohen, Corey J Langer, Steven M Albelda, Daniel H Sterman
Gene-mediated cytotoxic immunotherapy (GMCI) is an immune strategy implemented through local delivery of an adenovirus-based vector expressing the thymidine kinase gene (aglatimagene besadenovec, AdV-tk) followed by anti-herpetic prodrug valacyclovir. A phase I dose escalation trial of GMCI followed by chemotherapy was conducted in patients with malignant pleural effusion (MPE). AdV-tk was administered intrapleurally (IP) in three cohorts at a dose of 1 × 1012 to 1013 vector particles. Primary endpoint was safety; secondary endpoints included response rate, progression-free survival, and overall survival...
February 21, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29544605/cardiac-genetic-predisposition-in-sudden-infant-death-syndrome
#10
David J Tester, Leonie C H Wong, Pritha Chanana, Amie Jaye, Jared M Evans, David R FitzPatrick, Margaret J Evans, Peter Fleming, Iona Jeffrey, Marta C Cohen, Jacob Tfelt-Hansen, Michael A Simpson, Elijah R Behr, Michael J Ackerman
BACKGROUND: Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. OBJECTIVES: This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS. METHODS: A cohort of 419 unrelated SIDS cases (257 male; average age 2.7 ± 1.9 months) underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes...
March 20, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29544218/a-novel-ptch1-frameshift-mutation-leading-to-nevoid-basal-cell-carcinoma-syndrome
#11
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29538219/a-case-report-on-2-unique-presentations-of-upper-extremity-deep-vein-thrombosis
#12
Muharrem Yunce, Ashwyn Sharma, Evan Braunstein, Michael B Streiff, Ying Wei Lum
RATIONALE: Thoracic outlet syndrome (TOS) is a rare cause of upper extremity deep vein thrombosis (UEDVT). The treatment usually involves catheter directed thrombolysis followed by systemic anticoagulation. Surgical decompression is frequently recommended after anticoagulation for definitive therapy. PATIENT CONCERNS: We report two cases of UEDVT secondary to venous TOS with important clinical presentations. DIAGNOSES: Venous TOS. INTERVENTIONS: One patient was initially treated conservatively but had a recurrent UEDVT...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29535238/retrospective-comparison-of-cardiac-testing-and-results-on-inpatients-with-low-pretest-probability-compared-with-moderate-high-pretest-probability-for-coronary-artery-disease
#13
Aaron Lear, Merritt Huber, Amy Canada, Jessica Robertson, Evan Bosman, Stephen Zyzanski
OBJECTIVE: To determine whether admission, and provocative stress testing of patients who have ruled out for acute coronary syndrome put patients with low-risk category for coronary artery disease (CAD) at risk for false-positive provocative stress testing and unnecessary coronary angiogram/imaging. METHODS: A retrospective chart review was performed on patients between 30 and 70 years old, with no pre-existing diagnosis of CAD, admitted to observation or inpatient status chest pain or related complaints...
March 2018: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/29531655/parvovirus-b19-triggered-acute-hemolytic-anemia-and-thrombocytopenia-in-a-child-with-evans-syndrome
#14
Panagiota Zikidou, Anastassia Grapsa, Zoe Bezirgiannidou, Athanassios Chatzimichael, Elpis Mantadakis
Background: Human parvovirus B19 (HPV-B19) is the etiologic agent of erythema infectiosum, of transient aplastic crises in individuals with underlying chronic hemolytic disorders, and of chronic pure red cell aplasia in immunocompromised individuals. Case report: We describe a 14-year-old girl with long-standing Evans syndrome, who presented with severe anemia, reticulocytopenia and thrombocytopenia. A bone marrow aspirate revealed severe erythroid hypoplasia along with the presence of giant pronormoblasts, while serological studies and real-time PCR of whole blood were positive for acute parvovirus B19 infection...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29528191/thyroid-cancer-in-adolescents-and-young-adults
#15
REVIEW
Maura Massimino, Douglas B Evans, Marta Podda, Claudio Spinelli, Paola Collini, Natalia Pizzi, Archie Bleyer
In adolescents and young adults, thyroid cancer accounts for 13% of all invasive neoplasms, being three times more frequent in females, but overdiagnosis and overtreatment are common. There are two therapeutic approaches, one radical and no longer preferred in all instances, and the other conservative. Permanent complications of surgery and metabolic irradiation can affect quality of life and carry an economic burden. The overall survival rate approaches 100% for patients with differentiated thyroid cancer regardless of the extent of treatment...
March 12, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29488168/mir-150-regulates-b-lymphocyte-in-autoimmune-hemolytic-anemia-evans-syndrome-by-c-myb
#16
Limin Xing, Wenyan Xu, Yingying Qu, Manjun Zhao, Hongli Zhu, Hong Liu, Huaquan Wang, Xin Su, Zonghong Shao
The objective of the study was to study the regulation of B lymphocytes in patients with autoimmune hemolytic anemia (AIHA)/Evans syndrome. From October 2015 to May 2016, 35 patients with AIHA/Evans in the Department of Hematology, Tianjin Medical University General Hospital were enrolled into this study. c-Myb mRNA and miR-150 expression in B lymphocytes were measured using real-time PCR (RT-PCR). Correlation between c-Myb and miR-150 and clinical parameters in patients with AIHA/Evans were analyzed. c-Myb mRNA expression in hemolysis patients was significantly higher than in remission patients and CLL patients, negatively correlated with hemoglobin (Hb) level and complement 3(C3) levels, and positively correlated with total bilirubin (TBIL) concentration and indirect bilirubin (IBIL) concentration...
February 27, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29484149/randomised-controlled-trial-of-simvastatin-treatment-for-autism-in-young-children-with-neurofibromatosis-type-1-santa
#17
Stavros Stivaros, Shruti Garg, Maria Tziraki, Ying Cai, Owen Thomas, Joseph Mellor, Andrew A Morris, Carly Jim, Karolina Szumanska-Ryt, Laura M Parkes, Hamied A Haroon, Daniela Montaldi, Nicholas Webb, John Keane, Francisco X Castellanos, Alcino J Silva, Sue Huson, Stephen Williams, D Gareth Evans, Richard Emsley, Jonathan Green
Background: Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognition/behaviour outcomes have shown mixed results. This trial breaks new ground by studying statin effects for the first time in younger children with NF1 and co-morbid autism and by using multiparametric imaging outcomes. Methods: A single-site triple-blind RCT of simvastatin vs...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29483236/penetrance-estimates-for-brca1-brca2-also-applied-to-lynch-syndrome-based-on-presymptomatic-testing-a-new-unbiased-method-to-assess-risk
#18
D Gareth Evans, Emma Woodward, Elaine F Harkness, Anthony Howell, Inga Plaskocinska, Eamonn R Maher, Marc D Tischkowitz, Fiona Lalloo
PURPOSE: The identification of BRCA1 , BRCA2 or mismatch repair (MMR) pathogenic gene variants in familial breast/ovarian/colorectal cancer families facilitates predictive genetic testing of at-risk relatives. However, controversy still exists regarding overall lifetime risks of cancer in individuals testing positive. METHODS: We assessed the penetrance of BRCA1 , BRCA2, MLH1 and MSH2 mutations in men and women using Bayesian calculations based on ratios of positive to negative presymptomatic testing by 10-year age cohorts...
February 26, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29481579/loss-of-full-length-gata1-expression-in-megakaryocytes-is-a-sensitive-and-specific-immunohistochemical-marker-for-the-diagnosis-of-myeloid-proliferative-disorder-related-to-down-syndrome
#19
Winston Y Lee, Olga K Weinberg, Andrew G Evans, Geraldine S Pinkus
Objectives: Myeloid proliferative disorders associated with Down syndrome (MPD-DS), including transient abnormal myelopoiesis and myeloid leukemia associated with Down syndrome (DS), harbor mutations of GATA1, a transcription factor essential for erythroid and megakaryocytic development. These mutations result in a N-terminally truncated GATA1 (GATA1s) and prohibit the production of the full-length GATA1 (GATA1f). Here, we demonstrate the utility of immunohistochemical GATA1f reactivity in diagnosing MPD-DS...
March 7, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29478798/therapeutic-plasma-exchange-for-hyperviscosity-syndrome-secondary-to-high-rheumatoid-factor
#20
Parvez M Lokhandwala, Maryam Shabihkhani, Paul M Ness, Evan M Bloch
Hyperviscosity syndrome (HVS) is most commonly associated with Waldenstrom's macroglobulinemia, where it may be life-threatening. HVS may also occur in autoimmune diseases; data pertaining to efficacy of therapeutic plasma exchange (TPE) in HVS arising in non-malignant gammopathy are limited. We report a case of 71-year-old female with erosive rheumatoid arthritis with profoundly elevated rheumatoid factor (57,400 IU/ml; normal <35) who presented with findings consistent with HVS: profound weakness, headache, epistaxis and plasma viscosity (8...
February 15, 2018: Transfusion and Apheresis Science
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