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https://www.readbyqxmd.com/read/28086795/atherosclerotic-and-thrombotic-genetic-and-environmental-determinants-in-egyptian-coronary-artery-disease-patients-a-pilot-study
#1
Manal S Fawzy, Eman A Toraih, Nagwa M Aly, Abeer Fakhr-Eldeen, Dahlia I Badran, Mohammad H Hussein
BACKGROUND: Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide. Multiple genetic variants in combination with various environmental risk factors have been implicated. This study aimed to investigate the association of twelve thrombotic and atherosclerotic gene variants in combination with other environmental risk factors with CAD risk in a preliminary sample of Egyptian CAD patients. METHODS: Twenty three consecutive CAD patients undergoing diagnostic coronary angiography and 34 unrelated controls, have been enrolled in the study...
January 13, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28085526/prothrombin-polymorphism-a19911g-factor-v-hr2-haplotype-a4070g-and-plasminogen-activator-inhibitor-1-polymorphism-4g-5g-and-the-risk-of-retinal-vein-occlusion
#2
Claudia Kuhli-Hattenbach, Peter Hellstern, Dorit Karin Nägler, Thomas Kohnen, Lars-Olof Hattenbach
BACKGROUND: Thus far, no data has become available to evaluate systematically the prevalences of prothrombin polymorphism A19911G (PT A19911G), factor V HR2 haplotype A4070G (FV A4070G), or plasminogen activator-inhibitor-1 polymorphism 4G/5G (PAI-1 4G/5G) in patients who develop retinal vein occlusion (RVO) without cardiovascular risk factors. MATERIALS AND METHODS: We retrospectively evaluated comprehensive thrombophilia data from 42 preselected RVO patients without cardiovascular risk factors...
January 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28085519/association-of-retinal-vein-occlusion-homocysteine-and-the-thrombophilic-mutations-in-a-turkish-population-a-case-control-study
#3
Mehmet Talay Koylu, Murat Kucukevcilioglu, Fazil Cuneyt Erdurman, Ali Hakan Durukan, Gungor Sobacı, Deniz Torun, Yusuf Tunca, Onder Ayyildiz
PURPOSE: To compare homocysteine and thrombophilic mutations for the methylenetetrahydrofolate reductase (MTHFR) C677T, factor V Leiden, and prothrombin G20210A between retinal vein occlusion (RVO) and healthy controls in a Turkish population. MATERIALS AND METHODS: Forty-nine subjects with RVO were compared for homocysteine status and the MTHFR C677T, prothrombin G20210A, and factor V Leiden mutations with those of 68 healthy controls. Then, the groups were subdivided into two subgroups according to age (less than 50 years old, equal to or more than 50 years old) and were further compared...
January 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28079536/non-vitamin-k-antagonist-oral-anticoagulants-in-patients-with-severe-inherited-thrombophilia-a-series-of-33-patients
#4
Anetta Undas, Tadeusz Goralczyk
The aim of the study was to investigate whether treatment with non-vitamin K antagonist oral anticoagulants (NOACs) is effective and well tolerated in real-life patients following venous thromboembolism (VTE) associated with severe inherited thrombophilia. We evaluated 33 consecutive patients with severe inherited thrombophilia, defined as the presence of deficiencies in protein C, protein S, or anti-thrombin, homozygous factor V Leiden and prothrombin G20210A mutations, or combined defects. The patients were recruited from March 2010 to December 2015 and followed till July 2016...
January 12, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28063132/evaluation-of-role-of-fv-fviii-and-aplas-in-the-pathogenesis-of-apcr-in-fv-leiden-negative-dvt-patients-a-study-in-india
#5
Amit Sharma, Kanwaljeet Singh, Arijit Biswas, Ravi Ranjan, Kamal Kishor, Ravi Kumar, Hareram Pandey, Vineet Kumar Kamal, Renu Saxena
Resistance to APC (APCR) is a very important cause of thrombophilia and most frequently caused by the Leiden mutation. APCR is also seen in the absence of FV Leiden and associated with elevated levels of factor V (FV), factor VIII (FVIII) and antiphospholipid antibodies (APLAs). The aim of this prospective case control study was to find out the frequency and role of FV, FVIII and APLAs in the pathogenesis of APCR in FV Leiden negative deep vein thrombosis (DVT) patients in India. A total 30 APCR positive and FV Leiden negative patients with DVT and similar number of age and sex matched healthy controls were recruited...
January 6, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28058944/epilepsy-in-hemiplegic-migraine-genetic-mutations-and-clinical-implications
#6
P Prontera, P Sarchielli, S Caproni, C Bedetti, L M Cupini, P Calabresi, C Costa
Objective We performed a systematic review on the comorbidities of familial/sporadic hemiplegic migraine (F/SHM) with seizure/epilepsy in patients with CACNA1A, ATP1A2 or SCN1A mutations, to identify the genotypes associated and investigate for the presence of mutational hot spots. Methods We performed a search in MEDLINE and in the Human Gene Mutation and Leiden Open Variation Databases for mutations in the CACNA1A, ATP1A2 and SCN1A genes. After having examined the clinical characteristics of the patients, we selected those having HM and seizures, febrile seizures or epilepsy...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28044389/in-silico-functional-meta-analysis-of-5-962-abca4-variants-in-3-928-retinal-dystrophy-cases
#7
Stéphanie S Cornelis, Nathalie M Bax, Jana Zernant, Rando Allikmets, Lars G Fritsche, Johan T den Dunnen, Muhammad Ajmal, Carel B Hoyng, Frans P M Cremers
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive Stargardt disease (STGD1) and cone-rod dystrophy (arCRD). The clinical outcome to a large degree depends on the severity of the variants. To provide an accurate prognosis and to select patients for novel treatments, functional significance assessment of non-truncating ABCA4 variants is important. We collected all published ABCA4 variants from 3,931 retinal dystrophy cases in a Leiden Open Variation Database, and compared their frequency in 3,270 Caucasian IRD cases with 33,370 non-Finnish European control individuals...
January 3, 2017: Human Mutation
https://www.readbyqxmd.com/read/28038774/cerebral-venous-thrombosis-at-high-altitude-a-systematic-review
#8
REVIEW
C Zavanone, M Panebianco, M Yger, A Borden, D Restivo, C Angelini, A Pavone, G Grimod, C Rosso, S Dupont
BACKGROUND AND OBJECTIVE: High altitude may be a factor associated with cerebral venous thrombosis (CVT). As our knowledge of CVT at high altitude is limited, it was decided to pool such information from the available case studies to determine whether high altitude can predispose to CVT. METHODS: A systematic review of the literature was performed for cases reporting CVT at high altitude. Searches of the PubMed database (up to July 2016) were performed for publications, using 'cerebral venous thrombosis' and 'high altitude' as keywords...
December 27, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/28035777/mendelian-disorders-of-cornification-caused-by-defects-in-intracellular-calcium-pumps-mutation-update-and-database-for-variants-in-atp2a2-and-atp2c1-associated-with-darier-disease-and-hailey-hailey-disease
#9
Ruud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel
The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier Disease (DD) and Hailey-Hailey Disease (HHD). DD is caused by mutations in the ATP2A2 gene, while the ATP2C1 gene is associated with HHD. Both are inherited as autosomal dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12- 40% of DD patients and 12-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found...
December 30, 2016: Human Mutation
https://www.readbyqxmd.com/read/28031954/life-as-an-early-career-researcher-interview-with-eleftheria-anastasopoulou
#10
Eleftheria A Anastasopoulou
Eleftheria Anastasopoulou speaks to Francesca Lake, Managing Editor: Eleftheria is currently pursuing her PhD in immunotherapy of cancer and biomarkers. Her interests focus mainly on detection of tumor antogen-specific T cells in vaccinated patients. She attained her degree at the National and Kapodistrian University of Athens, and holds an MSc from Leiden University.
March 2016: Future Science OA
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#11
E Saliba, T Debillon, S Auvin, O Baud, V Biran, J-L Chabernaud, S Chabrier, F Cneude, A-G Cordier, V Darmency-Stamboul, J-F Diependaele, T Debillon, M Dinomais, C Durand, A Ego, G Favrais, Y Gruel, L Hertz-Pannier, B Husson, S Marret, S N'Guyen The Tich, T Perez, E Saliba, J-B Valentin, C Vuillerot
Neonatal arterial ischemic stroke (NAIS) is a rare event that occurs in approximately one in 5000 term or close-to-term infants. Most affected infants will present with seizures. Although a well-recognized clinical entity, many questions remain regarding diagnosis, risk factors, treatment, and follow-up modalities. In the absence of a known pathophysiological mechanism and lack of evidence-based guidelines, only supportive care is currently provided. To address these issues, a French national committee set up by the French Neonatal Society (Société française de néonatologie) and the national referral center (Centre national de référence) for arterial ischemic stroke in children drew up guidelines based on an HAS (Haute Autorité de santé [HAS]; French national authority for health) methodology...
December 20, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28000580/-who-may-place-the-first-donor-heart-conflict-surrounding-the-first-heart-transplant-in-the-netherlands
#12
A van der Tol, J N Homan van der Heide, H A Huysmans, M Haalebos
On Friday 22 June 1984 a patient was waiting in Rotterdam to be moved to Brussels for a heart transplant. The Dutch heart surgery centres tried to mutually agree on the place where the first heart transplant should be performed. When this proved impossible, the decision was made by the cardiac surgeons from Rotterdam and Leiden. In this article we will reconstruct the events that took place at that time, partly on the basis of a recent 'witness seminar'.
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27998349/robert-g-mckinnell-the-understanding-prevention-and-control-of-human-cancer-the-historic-work-and-lives-of-elizabeth-cavert-miller-and-james%C3%A2-a-miller-leiden-and-boston-brill-2016-pp-%C3%A2-xvi-196-50-hardback-isbn-%C3%A2-9789004286795
#13
https://www.readbyqxmd.com/read/27995290/transposition-of-great-arteries-with-complex-coronary-artery-variants-time-related-events-following-arterial-switch-operation
#14
Shada Al Anani, Ibtihaj Fughhi, Anas Taqatqa, Chawki Elzein, Michel N Ilbawi, Anastasios C Polimenakos
Coronary artery anatomy represents a challenging and, often, determining predictor of outcome in an arterial switch operation (ASO). Impact of specific coronary artery variants, such as single, intramural and inverted, on time-related events following ASO, is, yet, to be determined. We sought to compare early and late outcomes within the group of nonstandard coronary artery variants. Patients who underwent ASO from January 1995 to October 2010 were reviewed. Patients with coronary artery variants other than L1Cx1R2 ("standard" by Leiden classification) were included...
December 19, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27989553/cerebrovascular-function-in-presymptomatic-and-symptomatic-individuals-with-hereditary-cerebral-amyloid-angiopathy-a-case-control-study
#15
Anna M van Opstal, Sanneke van Rooden, Thijs van Harten, Eidrees Ghariq, Gerda Labadie, Panagiotis Fotiadis, M Edip Gurol, Gisela M Terwindt, Marieke J H Wermer, Mark A van Buchem, Steven M Greenberg, Jeroen van der Grond
BACKGROUND: Previous work suggests that impairments of cerebrovascular flow or reactivity might be early markers of cerebral amyloid angiopathy (CAA). Hereditary cerebral haemorrhage with amyloidosis-Dutch type (HCHWA-D) is a genetic form of CAA that can be diagnosed before the onset of clinical symptoms by DNA testing. We aimed to investigate whether haemodynamic measures are decreased in presymptomatic and symptomatic HCHWA-D mutation carriers compared with healthy controls. METHODS: In this case-control study, we included presymptomatic and symptomatic HCHWA-D mutation carriers diagnosed through genetic testing and recruited through the HCHWA-D patient association (Katwijk, Netherlands) and the outpatient clinic of the Department of Neurology of the Leiden University Medical Center (Leiden, Netherlands), and healthy controls...
December 15, 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27986523/outcome-of-patients-with-venous-thromboembolism-and-factor-v-leiden-or-prothrombin-20210-carrier-mutations-during-the-course-of-anticoagulation
#16
Inna Tzoran, Manolis Papadakis, Benjamin Brenner, Ángeles Fidalgo, Agustina Rivas, Philip S Wells, Olga Gavín, María Dolores Adarraga, Farès Moustafa, Manuel Monreal
BACKGROUND: Individuals with factor V Leiden or prothrombin G20210A mutations are at a higher risk to develop venous thromboembolism. However, the influence of these polymorphisms on patient outcome during anticoagulant therapy has not been consistently explored. METHODS: We used the RIETE database to compare rates of venous thromboembolism recurrence and bleeding events occurring during the anticoagulation course in factor V Leiden carriers, prothrombin mutation carriers and non-carriers...
December 13, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/27940596/predicting-cardiopulmonary-involvement-in-patients-with-systemic-sclerosis-complementary-value-of-nailfold-videocapillaroscopy-patterns-and-disease-specific-autoantibodies
#17
Iris M Markusse, Jessica Meijs, Berber de Boer, Jaap A Bakker, H Pascal C Schippers, Anne A Schouffoer, Nina Ajmone Marsan, Lucia J M Kroft, Maarten K Ninaber, Tom W J Huizinga, Jeska K de Vries-Bouwstra
OBJECTIVE: To evaluate the prevalence of anti-extractable nuclear antigen (anti-ENA) antibodies in Dutch SSc patients and the predictive power of the combination of specific anti-ENA antibodies and nailfold videocapillaroscopy (NVC) patterns to improve identification of patients with high risk for cardiopulmonary involvement. METHODS: A total of 287 patients (79%) from the Leiden SSc-Cohort had data available on NVC-pattern (no SSc-specific, early, active, late) and anti-ENA antibodies...
December 10, 2016: Rheumatology
https://www.readbyqxmd.com/read/27936214/deep-neuromuscular-block-improves-surgical-conditions-during-bariatric-surgery-and-reduces-postoperative-pain-a-randomized-double-blind-controlled-trial
#18
Bart Torensma, Chris H Martini, Martijn Boon, Erik Olofsen, Bas In 't Veld, Ronald S L Liem, Mireille T T Knook, Dingeman J Swank, Albert Dahan
BACKGROUND: It remains unknown whether the administration of a deep neuromuscular block (NMB) during bariatric surgery improves surgical conditions and patient outcome. The authors studied the effect of deep versus moderate NMB in laparoscopic bariatric surgery on surgical conditions and postoperative pain. METHODS AND RESULTS: One hundred patients scheduled to undergo elective bariatric surgery were randomized to a deep NMB (post-tetanic-count 2-3) or a moderate NMB (train-of-four 1-2)...
2016: PloS One
https://www.readbyqxmd.com/read/27932526/human-plasma-n-glycosylation-as-analyzed-by-maldi-fticr-ms-associates-with-markers-of-inflammation-and-metabolic-health
#19
Karli R Reiding, L Renee Ruhaak, Hae-Won Uh, Said El Bouhaddani, Erik B van den Akker, Rosina Plomp, Liam A McDonnell, Jeanine J Houwing-Duistermaat, P Eline Slagboom, Marian Beekman, Manfred Wuhrer
Glycosylation is an abundant co- and post-translational protein modification of importance to protein processing and activity. While not template-defined, glycosylation does reflect the biological state of an organism and is a high-potential biomarker for disease and patient stratification. However, to interpret a complex but informative sample like the total plasma N-glycome (TPNG), it is important to establish its baseline association with plasma protein levels and systemic processes. Thus far, large scale studies (n > 200) of the TPNG have been performed with methods of chromatographic and electrophoretic separation, which, while being informative, are limited in resolving the structural complexity of plasma N-glycans...
December 8, 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/27928255/analyzing-gensini-score-as-a-semi-continuous-outcome
#20
Homa Kashani, Hojjat Zeraati, Kazem Mohammad, Hamidreza Goodarzynejad, Mahmood Mahmoudi, Saeed Sadeghian, Mohammadali Boroumand
Background: Investigators frequently encounter continuous outcomes with plenty of values clumped at zero called semi-continuous outcomes. The Gensini score, one of the most widely used scoring systems for expressing coronary angiographic results, is of this type. The aim of this study was to apply two statistical approaches based on the categorization and original scale of the Gensini score to simultaneously assess the association between covariates and the presence and severity of coronary artery disease (CAD)...
April 13, 2016: Journal of Tehran Heart Center
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