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https://www.readbyqxmd.com/read/29320959/factor-v-leiden-paradox-in-a-middle-aged-swedish-population-a-prospective-study
#1
Bengt Zöller, Olle Melander, Peter J Svensson, Gunnar Engström
Few prospective studies have examined the factor V paradox: factor V Leiden (FVL) is a stronger risk factor for deep venous thrombosis (DVT) than for pulmonary embolism (PE). The present study, to the best of our knowledge, is the first population-based study aimed to examine the relationship between FVL and incidence of venous thromboembolism (VTE), DVT and PE in a prospective cohort study of middle-aged Swedish individuals. FVL was determined in 4890 subjects (aged 46-68 years, 57% women) from the general population without previous VTE or cancer, who participated in the Malmö Diet and Cancer study between 1991 and 1994...
January 1, 2018: Vascular Medicine
https://www.readbyqxmd.com/read/29314435/mutation-update-of-transcription-factor-genes-foxe3-hsf4-maf-and-pitx3-causing-cataracts-and-other-developmental-ocular-defects
#2
Deepti Anand, Smriti A Agrawal, Anne Slavotinek, Salil A Lachke
Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects in other components of the eye or in non-ocular tissues. We comprehensively describe here all the variants in FOXE3, HSF4, MAF, and PITX3 genes linked to human developmental defects. A total of 52 variants for FOXE3, 18 variants for HSF4, 20 variants for MAF, and 19 variants for PITX3 identified so far in isolated cases or within families are documented...
January 4, 2018: Human Mutation
https://www.readbyqxmd.com/read/29308659/thrombophilia-associated-factors-in-patients-with-spontaneous-osteonecrosis-of-the-knee
#3
Niv Marom, Jonathan Ej Koch, Yiftah Beer, Martin Ellis, Gil Ganot, Meir Nyska, Guy Maoz, Iftach Hetsroni
Objective To test whether patients with spontaneous osteonecrosis of the knee (SONK) are characterized by abnormal levels of thrombophilia-associated factors. Design Twenty-five patients with SONK were recruited. Inclusion criteria were (1) age >40 years, (2) acute onset knee pain not precipitated by trauma, and (3) MRI findings consistent with SONK. Exclusion criteria were (1) history of cancer and chemotherapy and (2) factors associated with secondary osteonecrosis. Blood tests included 13 thrombophilia-associated factors that were either heritable mutations or acquired factors...
January 1, 2018: Cartilage
https://www.readbyqxmd.com/read/29296762/whole-exome-sequencing-in-evaluation-of-patients-with-venous-thromboembolism
#4
Eun-Ju Lee, Daniel J Dykas, Andrew D Leavitt, Rodney M Camire, Eduard Ebberink, Pablo García de Frutos, Kavitha Gnanasambandan, Sean X Gu, James A Huntington, Steven R Lentz, Koen Mertens, Christopher R Parish, Alireza R Rezaie, Peter P Sayeski, Caroline Cromwell, Noffar Bar, Stephanie Halene, Natalia Neparidze, Terri L Parker, Adrienne J Burns, Anne Dumont, Xiaopan Yao, Cassius Iyad Ochoa Chaar, Jean M Connors, Allen E Bale, Alfred Ian Lee
Genetics play a significant role in venous thromboembolism (VTE), yet current clinical laboratory-based testing identifies a known heritable thrombophilia (factor V Leiden, prothrombin gene mutation G20210A, or a deficiency of protein C, protein S, or antithrombin) in only a minority of VTE patients. We hypothesized that a substantial number of VTE patients could have lesser-known thrombophilia mutations. To test this hypothesis, we performed whole-exome sequencing (WES) in 64 patients with VTE, focusing our analysis on a novel 55-gene extended thrombophilia panel that we compiled...
July 11, 2017: Blood Advances
https://www.readbyqxmd.com/read/29291252/tfpi%C3%AE-interacts-with-fva-and-fxa-to-inhibit-prothrombinase-during-the-initiation-of-coagulation
#5
Jeremy P Wood, Helle H Petersen, Bingke Yu, Xiaoai Wu, Ida Hilden, Alan E Mast
Tissue factor pathway inhibitor α (TFPIα) inhibits prothrombinase, the thrombin-generating complex of factor Xa (FXa) and factor Va (FVa), during the initiation of coagulation. This inhibition requires binding of a conserved basic region within TFPIα to a conserved acidic region in FXa-activated and platelet-released FVa. In this study, the contribution of interactions between TFPIα and the FXa active site and FVa heavy chain to prothrombinase inhibition were examined to further define the inhibitory biochemistry...
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29276754/uncovering-a-predictive-molecular-signature-for-the-onset-of-nash-related-fibrosis-in-a-translational-nash-mouse-model
#6
Arianne van Koppen, Lars Verschuren, Anita M van den Hoek, Joanne Verheij, Martine C Morrison, Kelvin Li, Hiroshi Nagabukuro, Adalberto Costessi, Martien P M Caspers, Tim J van den Broek, John Sagartz, Cornelis Kluft, Carine Beysen, Claire Emson, Alain J van Gool, Roel Goldschmeding, Reinout Stoop, Ivana Bobeldijk-Pastorova, Scott M Turner, Guido Hanauer, Roeland Hanemaaijer
Background & Aims: The incidence of nonalcoholic steatohepatitis (NASH) is increasing. The pathophysiological mechanisms of NASH and the sequence of events leading to hepatic fibrosis are incompletely understood. The aim of this study was to gain insight into the dynamics of key molecular processes involved in NASH and to rank early markers for hepatic fibrosis. Methods: A time-course study in low-density lipoprotein-receptor knockout. Leiden mice on a high-fat diet was performed to identify the temporal dynamics of key processes contributing to NASH and fibrosis...
2018: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29275105/preferred-and-perceived-participation-of-younger-and-older-patients-in-decision-making-about-treatment-for-early-breast-cancer-a-prospective-study
#7
Victoria C Hamelinck, Esther Bastiaannet, Arwen H Pieterse, Cornelis J H van de Velde, Gerrit-Jan Liefers, Anne M Stiggelbout
BACKGROUND: Older patients are believed to prefer a more passive role in treatment decision making, but studies reporting this relation were conducted over a decade ago or were retrospective. We prospectively compared younger (40-64 years) versus older (≥ 65 years) breast cancer patients' preferences for decision-making roles and their perceived actual roles. PATIENTS AND METHODS: A prospective multicenter study was conducted in Leiden, The Hague, and Tilburg over a 2-year period...
November 28, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29266813/is-acpa-positive-ra-still-a-more-severe-disease-than-acpa-negative-ra-a-longitudinal-cohort-study-in-ra-patients-diagnosed-from-2000-onwards
#8
Aleid C Boer, Annelies Boonen, Annette H M van der Helm van Mil
OBJECTIVE: Anti-citrullinated-protein antibodies (ACPA)-positive rheumatoid arthritis (RA) is considered as more severe than ACPA-negative RA, because of its association with joint destruction. Clinically relevant joint destruction is now infrequent, thanks to adequate disease suppression. According to patients, important outcomes are pain, fatigue and independence. We evaluated if ACPA-positive RA-patients diagnosed ≥2000 have more severe self-reported limitations and impairments including restrictions at work than ACPA-negative RA-patients...
December 20, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/29254740/myocardial-infarction-and-thrombophilia-do-not-miss-the-right-diagnosis
#9
Arnaud Hubert, Pierre Guéret, Guillaume Leurent, Raphael P Martins, Vincent Auffret, Marc Bedossa
Protein C deficiency is a coagulation cascade disorder often resulting in venous thromboembolic events but is also a possible contributor to arterial thrombosis. To date, approximately ten cases of myocardial infarction (MI) due to protein C deficiency have been reported in the literature. However, affirming this mechanism requires ruling out the most common causes of MI, i.e. the rupture or erosion of an atherosclerotic plaque. Intravascular imaging of coronary arteries can be of help to identify angiographically undetected atherosclerosis...
December 15, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29250650/pv-1-expression-could-distinguish-the-subset-of-caveolae-presenting-telocytes-that-are-endothelial-progenitors
#10
Alexandra Diana Vrapciu, Mugurel Constantin Rusu
Telocytes (TCs) are stromal cells with characteristic long, thin and moniliform prolongations termed telopodes. They were formerly termed interstitial Cajal-like cells. A characteristic set of markers to identify TCs in light microscopy has not been established until now. Transmission electron microscopy (TEM) is a better tool for identifying TCs. Telocytes display caveolae and can express caveolin-1. On the other hand, endothelial cells (ECs) as well as endothelial progenitor cells (EPCs) have caveolae. Recent evidence suggests that a subset of TCs are in fact EPCs...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29249891/new-frontiers-in-analyzing-dynamic-group-interactions-bridging-social-and-computer-science
#11
Nale Lehmann-Willenbrock, Hayley Hung, Joann Keyton
This special issue on advancing interdisciplinary collaboration between computer scientists and social scientists documents the joint results of the international Lorentz workshop, "Interdisciplinary Insights into Group and Team Dynamics," which took place in Leiden, The Netherlands, July 2016. An equal number of scholars from social and computer science participated in the workshop and contributed to the papers included in this special issue. In this introduction, we first identify interaction dynamics as the core of group and team models and review how scholars in social and computer science have typically approached behavioral interactions in groups and teams...
October 2017: Small Group Research
https://www.readbyqxmd.com/read/29248890/thromboembolismpeaking-3-months-after-starting-testosterone-therapy-testosterone-thrombophilia-interactions
#12
Charles J Glueck, Naila Goldenberg, Ping Wang
We assessed time of thrombotic events (venous thromboembolism (VTE)) after starting testosterone therapy (TT) in 21 men who sustained 23 VTE. The density of thrombotic events was greatest at 3 months after starting TT, with a rapid decline in events by 10 months. The 21 cases with VTE on TT differed from 110 patient controls with unprovoked VTE, not taking TT (VTE-no TT) for Factor V Leiden heterozygosity (FVL) (33 per cent vs 13 per cent, P=0.037), for high lipoprotein (a) (Lp(a)) (55 per cent vs 17 per cent, P=0...
December 15, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/29238798/association-between-hypercoagulable-conditions-and-calciphylaxis-in-patients-with-renal-disease-a-case-control-study
#13
Allison S Dobry, Lauren N Ko, Jessica St John, J Mark Sloan, Sagar Nigwekar, Daniela Kroshinsky
Importance: Calciphylaxis is a rare skin disease with high morbidity and mortality that frequently affects patients with renal disease. Hypercoagulable conditions are frequently observed in both patients with calciphylaxis and those with chronic kidney disease (CKD), complicating our understanding of which hypercoagulable conditions are specific to calciphylaxis. Objective: To identify hypercoagulable conditions that are risk factors for developing calciphylaxis while controlling for CKD...
December 13, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29226645/thrombophilic-mutations-among-patients-with-sickle-cell-disease
#14
Rim B Nefissi, Faida Ouali, Taieb Massaoud, Nasreddine Gritli
BACKGROUND: Factor V-Leiden (FVL), Prothrombin (PRT) G20210A, and Methylene Tetrahydro Folate Reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. Our aim in this study was to investigate the prevalence of these mutations among Tunisian sickle cell patients. METHODS: Study subjects comprised 64 patients and 100 healthy controls. FVL, PRT G20210A, and MTHFR genotypes were determined using a reverse dot blot based method...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29219812/helicobacter-pylori-resistance-in-the-netherlands-a-growing-problem
#15
R Ruiter, H F Wunderink, R A Veenendaal, L G Visser, M G J de Boer
Helicobacter pylori infection is clinically associated with dyspepsia, gastric and duodenal ulcers, and gastric cancer. Increasing antimicrobial resistance in H. pylori is a worldwide problem and failure of eradication with standard triple therapy (high-dose proton pump inhibition, amoxicillin and clarithromycin) is directly related to the presence of a resistant strain. Other treatment combinations have been investigated, but with inconsistent results. Based on a review of the recent literature in conjunction with an analysis of the regional resistance data, we address the increasing complexity of H...
November 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/29216683/human-perforin-gene-variation-is-geographically-distributed
#16
Robin C Willenbring, Yasuhiro Ikeda, Larry R Pease, Aaron J Johnson
BACKGROUND: Deleterious mutations in PRF1 result in lethal, childhood disease, familial hemophagocytic lymphohistiocytosis type 2 (FHL 2). However, not all mutations in PRF1 are deleterious and result in FHL 2. Currently, these nondeleterious mutations are being investigated in the onset of numerous disorders, such as lymphomas and diabetes. Yet, there is still an overwhelmingly large amount of PRF1 mutations that are not associated with disease. METHODS: We conducted a post hoc analysis of the PRF1 mutations in the coding region using the recently published Exome Aggregation Consortium genomes, Leiden Open Variation Database, NCBI SNP database, and primary literature to better understand PRF1 variation in the human population...
December 7, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29207759/combined-thrombophilia-in-a-young-male-presenting-as-life-threatening-pulmonary-embolism
#17
Akshyaya Pradhan, Ayush Shukla, Mili Jain, Anupam Mehrotra, Rishi Sethi
Combined hereditary thrombophilia is an uncommon entity associated with higher risk of early onset thrombosis. We report a case of 39-year-old male with combined deficiency of natural anticoagulants (protein C, S and anti thrombin) along with hyper homocystenemia and factor V Leiden mutation, presenting with life threatening bilateral pulmonary embolism. The clinical implications of combined thrombophilia are also discussed.
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29194315/hereditary-thrombophilia-in-trauma-patients-with-venous-thromboembolism-is-routine-screening-necessary
#18
Kathleen A Cannon, Jayraan Badiee, Jason B Brill, Erik J Olson, Michael J Sise, Vishal Bansal, C Beth Sise, Steven R Shackford
BACKGROUND: Venous thromboembolism (VTE), including deep venous thrombosis (DVT) and pulmonary embolism (PE), remains a common complication following trauma. The role of hereditary thrombophilia (HT) in post-traumatic VTE is unknown. In the general population with a first-time DVT, Factor V Leiden (FVL) and prothrombin G20210A mutation (PGM) are the most common types of HT with an incidence of 20-25% and 6-18%, respectively. The objective of this study was to identify the incidence of FVL and PGM in post-traumatic VTE to determine whether routine screening for HT in trauma should be performed...
November 21, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29194072/prenatal-thrombosis-of-renal-veins-and-the-inferior-vena-cava-in-a-newborn-with-double-heterozygosity-for-the-factor-v-leiden-and-prothrombin-gene-g20210a-mutations-a-case-report
#19
Ozgul Bulut, Zeynep Ince, Ozan Uzunhan, Asuman Coban
: Renal vein thrombosis in a neonate is a rare but well recognized condition with low mortality but high morbidity. The cause has not been explained clearly yet but is probably a multifactorial process that includes inherited prothrombotic abnormalities. Antenatal onset of renal vein thrombosis is important due to the increased risk for permanent organ damage. We report a case of prenatal thrombosis of the renal veins and the inferior vena cava in a newborn with double heterozygosity for factor V Leiden and prothrombin gene mutations who had persistently impaired renal function requiring chronic peritoneal dialysis...
November 30, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29182374/lack-of-association-of-mirsnp-rs11174811-in-avpr1a-gene-with-arterial-blood-pressure-and-hypertension-in-south-indian-population
#20
Linda Koshy, S V Vijayalekshmi, S Harikrishnan, Kutty V Raman, V T Jissa, A Jayakumaran Nair, A Gangaprasad, G M Nair, P R Sudhakaran
Epigenetic regulation of arterial blood pressure mediated through mirSNPs in renin-angiotensin aldosterone system (RAAS) genes is a less explored hypothesis. Recently, the mirSNP rs11174811 in the 3'UTR of the AVPR1A gene was associated with higher arterial blood pressure in a large study population from the Study of Myocardial Infarctions Leiden (SMILE). The aim of the present study was to replicate the association of mirSNP rs11174811 with blood pressure outcomes and hypertension in a south Indian population...
November 28, 2017: Clinical and Experimental Hypertension: CHE
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