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https://www.readbyqxmd.com/read/28742523/pregnancy-outcomes-among-patients-with-recurrent-pregnancy-loss-and-uterine-anatomic-abnormalities
#1
Daniel Gabbai, Avi Harlev, Michael Friger, Naama Steiner, Ruslan Sergienko, Andrey Kreinin, Asher Bashiri
BACKGROUND: Different etiologies for recurrent pregnancy loss have been identified, among them are: anatomical, endocrine, genetic, chromosomal and thrombophilia pathologies. AIMS: To assess medical and obstetric characteristics, and pregnancy outcomes, among women with uterine abnormalities and recurrent pregnancy loss (RPL). This study also aims to assess the impact of uterine anatomic surgical correction on pregnancy outcomes. METHODS: A retrospective case control study of 313 patients with two or more consecutive pregnancy losses followed by a subsequent (index) pregnancy...
July 25, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28726667/clinical-and-genetic-peculiarities-of-vascular-manifestations-of-antiphospholipid-syndrome-case-report
#2
D Vasylyev, L Chernobay, O Vasylieva, M Oliinyk, M Vashuk
Pathogenetic mechanisms of the development of antiphospholipid syndrome (APS) are considered in the article, which is the basis for the development of clinical manifestations and laboratory markers of APS. The modern literature data are analyzed, according to which the presence of antiphospholipid antibodies is a hypercoagulable background, and the formation of thrombi occurs under the influence of other allowing procoagulation factors. The classification of the main types of hereditary thrombophilia is given, which is the primary disorder, against the background of which an autoimmune thrombosis APS develops...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28694860/postpartum-aortic-bifurcation-thrombosis-on-the-background-of-thrombophilic-disorder
#3
Roxana Elena Bohîltea, Natalia Turcan, Horia Muresian, Silvia Condu, Elvira Bratila, Monica Mihaela Cîrstoiu
Two main causes of arterial thrombosis are known: fi rst - atherosclerosis, extensively studied, and the second - atrial fi brillation. The lack of any risk factors and the occurrence at young age of a thrombotic event requires us to investigate possible other conditions, including inherited thrombophilia that is represented by a series of genetic disorders that increase the risk of thromboembolic disease. The role of thrombophilia in the occurrence of arterial thrombosis is inconsequential; this disorder is characterized by the tendency of developing venous thrombosis...
September 2016: Mædica
https://www.readbyqxmd.com/read/28606797/do-factor-v-leiden-and-prothrombin-g20210a-mutations-predict-recurrent-venous-thromboembolism-in-older-patients
#4
Marie Méan, Andreas Limacher, Odile Stalder, Anne Angelillo-Scherrer, Lorenzo Alberio, Pierre Fontana, Hans-Jürg Beer, Nicolas Rodondi, Bernhard Lämmle, Drahomir Aujesky
BACKGROUND: The value of genetic thrombophilia testing in elderly patients with an unprovoked venous thromboembolism is unclear. We assessed whether the factor V Leiden and the prothrombin G20210A mutation are associated with recurrent venous thromboembolism in elderly patients in a prospective multicenter cohort study. METHODS: We genotyped the factor V Leiden and the prothrombin G20210A mutation in 354 consecutive in- and outpatients aged ≥65 years with a first unprovoked venous thromboembolism from nine Swiss hospitals...
June 9, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28599907/association-of-plasminogen-activator-inhibitor-1-serpine1-gene-polymorphisms-and-aneurysmal-subarachnoid-hemorrhage
#5
Philipp Hendrix, Paul M Foreman, Mark R Harrigan, Winfield S Fisher, Nilesh A Vyas, Robert H Lipsky, Minkuan Lin, Beverly C Walters, R Shane Tubbs, Mohammadali M Shoja, Jean-Francois Pittet, Mali Mathru, Christoph J Griessenauer
OBJECTIVE: Genetic variations of the SERPINE1 gene, which encodes plasminogen activator inhibitor 1 (PAI-1), correlate with serum levels of its product and are associated with thrombophilia and coronary atherosclerosis. Various SERPINE1 gene polymorphisms have been identified. Only the functional 5G/4G polymorphism, however, has been assessed in the context of aneurysmal subarachnoid hemorrhage (aSAH). Here, we assessed associations of 6 SERPINE1 polymorphisms with the clinical sequelae of aSAH...
June 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28580443/reduced-prothrombinase-inhibition-by-tissue-factor-pathway-inhibitor-contributes-to-the-factor-v-leiden-hypercoagulable-state
#6
Jeremy P Wood, Lisa M Baumann Kreuziger, Paul E R Ellery, Susan A Maroney, Alan E Mast
Activated factor V (FVa) and factor X (FXa) form prothrombinase, which converts prothrombin to thrombin. The α isoform of tissue factor (TF) pathway inhibitor (TFPI) dampens early procoagulant events, partly by interacting with FV. FV Leiden (FVL) is the most common genetic thrombophilia in Caucasians. Thrombosis risk is particularly elevated in women with FVL taking oral contraceptives, which produce acquired TFPIα deficiency. In mice, FVL combined with 50% reduction in TFPI causes severe thrombosis and perinatal lethality...
February 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/28578513/the-role-of-fv-1691g-a-fii-20210g-a-mutations-and-mthfr-677c-t-1298a-c-and-103g-t-fxiii-gene-polymorphisms-in-pathogenesis-of-intraventricular-hemorrhage-in-infants-born-before-32-weeks-of-gestation
#7
Dawid Szpecht, Janusz Gadzinowski, Agnieszka Seremak-Mrozikiewicz, Grażyna Kurzawińska, Krzysztof Drews, Marta Szymankiewicz
BACKGROUND: Congenital thrombophilia is associated with an increased intraventricular hemorrhage (IVH) risk among newborns, but it may also play a protective role. The role of genetic polymorphisms involved in the coagulation pathway of IVH pathogenesis is probably a consequence of an increased risk of thrombosis in the fine blood vessels in the germinal matrix region. MATERIAL AND METHODS: The aim of this study was to evaluate the possible relationship between Factor V (FV) 1691G>A, Factor II (FII) 20210G>A mutations and methylenetetrahydrofolate reductase (MTHFR) 677C>T; 1298A>C and Factor XIII (FXIII) 103G>T gene polymorphisms and the occurrence of IVH in 100 infants born from 24 + 0 to 32 + 0 weeks of gestation, born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28553146/recurrent-pregnancy-loss-current-perspectives
#8
REVIEW
Hady El Hachem, Vincent Crepaux, Pascale May-Panloup, Philippe Descamps, Guillaume Legendre, Pierre-Emmanuel Bouet
Recurrent pregnancy loss is an important reproductive health issue, affecting 2%-5% of couples. Common established causes include uterine anomalies, antiphospholipid syndrome, hormonal and metabolic disorders, and cytogenetic abnormalities. Other etiologies have been proposed but are still considered controversial, such as chronic endometritis, inherited thrombophilias, luteal phase deficiency, and high sperm DNA fragmentation levels. Over the years, evidence-based treatments such as surgical correction of uterine anomalies or aspirin and heparin for antiphospholipid syndrome have improved the outcomes for couples with recurrent pregnancy loss...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28547076/purinergic-signaling-during-intestinal-inflammation
#9
REVIEW
Maria Serena Longhi, Alan Moss, Zhenghui Gordon Jiang, Simon C Robson
Inflammatory bowel disease (IBD) is a devastating disease that is associated with excessive inflammation in the intestinal tract in genetically susceptible individuals and potentially triggered by microbial dysbiosis. This illness markedly predisposes patients to thrombophilia and chronic debility as well as bowel, lymphatic, and liver cancers. Development of new therapies is needed to re-establish long-term immune tolerance in IBD patients without increasing the risk of opportunistic infections and cancer...
May 26, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28544373/genetic-markers-for-inherited-thrombophilia-are-associated-with-fetal-growth-retardation-in-the-population-of-central-russia
#10
Evgeny Reshetnikov, Oksana Zarudskaya, Alexey Polonikov, Olga Bushueva, Valentina Orlova, Evgeny Krikun, Volodymyr Dvornyk, Mikhail Churnosov
AIM: The aim of this study was to examine the role of hereditary thrombophilia in the development of fetal growth retardation (FGR) in the population of Central Russia. METHODS: The case-control study sample included 497 women in the third trimester of pregnancy recruited during 2009-2013. The participants were enrolled into two groups: patients with FGR (n = 250) and controls without FGR (n = 247). The participants were genotyped for four genetic markers of hereditary thrombophilia: factor V Leiden (G > A FV, rs6025), prothrombin (G > A FII, rs1799963), factor VII (G > A FVII, rs6046), and fibrinogen (G > A FI, rs1800790)...
May 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28488549/prevalence-of-1691g-a-f5-20210g-a-f2-and-677c-t-mthfr-polymorphisms-in-bosnian-women-with-pregnancy-loss
#11
Emir Mahmutbegovic, Damir Marjanovic, Edin Medjedovic, Nevena Mahmutbegovic, Serkan Dogan, Amina Valjevac, Ewa Czerska, Anna Pawińska-Matecka, Agnieszka Madlani, Grazyna Adler
The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs1801133), F2 G>A (rs1800595) and MTHFR C>T (rs1801020) polymorphisms in Bosnian women...
May 10, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28451583/pregnancy-an-underutilized-window-of-opportunity-to-improve-long-term-maternal-and-infant-health-an-appeal-for-continuous-family-care-and-interdisciplinary-communication
#12
REVIEW
Birgit Arabin, Ahmet A Baschat
Physiologic adaptations during pregnancy unmask a woman's predisposition to diseases. Complications are increasingly predicted by first-trimester algorithms, amplify a pre-existing maternal phenotype and accelerate risks for chronic diseases in the offspring up to adulthood (Barker hypothesis). Recent evidence suggests that vice versa, pregnancy diseases also indicate maternal and even grandparent's risks for chronic diseases (reverse Barker hypothesis). Pub-Med and Embase were reviewed for Mesh terms "fetal programming" and "pregnancy complications combined with maternal disease" until January 2017...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28445521/next-generation-sequencing-to-dissect-the-genetic-architecture-of-kng1-and-f11-loci-using-factor-xi-levels-as-an-intermediate-phenotype-of-thrombosis
#13
Laura Martin-Fernandez, Giovana Gavidia-Bovadilla, Irene Corrales, Helena Brunel, Lorena Ramírez, Sonia López, Juan Carlos Souto, Francisco Vidal, José Manuel Soria
Venous thromboembolism is a complex disease with a high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 and F11 loci. Our aim was to identify the genetic variation of KNG1 and F11 that might account for the variability of FXI levels. The KNG1 and F11 loci were sequenced completely in 110 unrelated individuals from the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia 2) Project using Next Generation Sequencing on an Illumina MiSeq. The GAIT-2 Project is a study of 935 individuals in 35 extended Spanish families selected through a proband with idiopathic thrombophilia...
2017: PloS One
https://www.readbyqxmd.com/read/28362975/gstm1-polymorphism-in-patients-with-clinical-manifestations-of-atherosclerosis
#14
D A Rodrigues, J V M Martins, K S F E Silva, I R Costa, M H Lagares, F L Campedelli, A M Barbosa, M P de Morais, K K V O Moura
Atherosclerosis is characterized by lesions, called atheroma or atheromatous plaques, in the inner layer of blood vessels, which block the vascular lumen and weaken the underlying tunica media. Several modifiable and non-modifiable risk factors for the development of atherosclerosis exist. The modifiable risk factors include hypertension, smoking, obesity, high LDL and low HDL cholesterol levels, sedentary lifestyle, and stress; the non-modifiable factors include diabetes mellitus, family history of hypertension and heart disease, thrombophilia, sex, age, and genetic factors...
March 15, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28352625/inherited-thrombophilia-in-pediatric-venous-thromboembolic-disease-why-and-who-to-test
#15
REVIEW
C Heleen van Ommen, Ulrike Nowak-Göttl
Venous thromboembolic disease in childhood is a multifactorial disease. Risk factors include acquired clinical risk factors such as a central venous catheter and underlying disease and inherited thrombophilia. Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In contrast to adults, acquired clinical risk factors play a larger role than inherited thrombophilia in the development of thrombotic disease in children. The contributing role of inherited thrombophilia is not clear in many pediatric thrombotic events, especially catheter-related thrombosis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28300866/thrombotic-risk-according-to-serpinc1-genotype-in-a-large-cohort-of-subjects-with-antithrombin-inherited-deficiency
#16
Martine Alhenc-Gelas, Genevieve Plu-Bureau, Justine Hugon-Rodin, Véronique Picard, Marie-Helene Horellou
Inherited quantitative (type I) or qualitative (type II) antithrombin deficiency (ATD) due to mutations in the SERPINC1 gene is a well-known risk factor for venous thromboembolism. ATD may also increase risk for arterial thrombosis. Few studies have investigated risk for thrombosis according to mutations. We addressed this topic in a large retrospective cohort study of 540 heterozygous carriers of SERPINC1 mutations and compared risk for first venous or arterial thrombosis associated with carrying of different type II or type I mutations...
March 16, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28290105/economic-evaluations-of-thrombophilia-screening-prior-to-prescribing-combined-oral-contraceptives-a-systematic-and-critical-review
#17
REVIEW
Erin Vernon, Bridget Hiedemann, Bonnie H Bowie
BACKGROUND: Combined oral contraceptives (COCs) increase the risk of venous thromboembolism (VTE), particularly among women with inherited clotting disorders. The World Health Organization classifies combined hormonal contraception as an "unacceptable health risk" for women with thrombogenic mutations but advises against universal thrombophilia screening before prescribing COCs given the low prevalence of thrombophilia and high screening costs. OBJECTIVE: Through the lens of lifetime costs and benefits, this paper systematically and critically reviews all published economic evaluations of thrombophilia screening prior to prescribing COCs...
March 13, 2017: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/28259966/a-genetic-risk-factor-for-thrombophilia-in-a-han-chinese-family
#18
Guoping Sun, Yicong Jia, Jingye Meng, Minglin Ou, Peng Zhu, Shan Cong, Yadan Luo, Weiguo Sui, Yong Dai
Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well‑known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I‑2, II‑2, II‑3 and III‑1) had a history of deep venous thromboembolism...
April 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28208204/thrombophilic-evaluation-in-patients-with-acute-pulmonary-embolism
#19
Scott M Stevens, Jack E Ansell
Patients with acute pulmonary embolism (PE) are often tested for thrombophilias, which are hereditary and acquired conditions that predispose to thrombosis. If a hereditary condition is identified, then testing is often performed on members of the patient's family. Testing for these conditions can be complex, as the presence of acute thrombosis and antithrombotic therapies can make the results of many tests unreliable. Many risk factors for thrombosis exist that are not routinely assessed by laboratory testing, and it is likely that many hereditary thrombophilia conditions remain to be discovered...
February 2017: Seminars in Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28108842/genetic-analysis-of-the-m2-anxa5-haplotype-as-recurrent-pregnancy-loss-predisposition-in-the-malay-population
#20
Kai-Cheen Ang, Sushilnathan Kathirgamanathan, Ewe Seng Ch'ng, Yan-Yeow Lee, Anna-Liza Roslani, Bavanandan Naidu, Krishna Kumar, Ridzuan Abdullah, Siti-Nadiah Abdul Kadir, Narazah Mohd Yusoff, Wan Zaidah Abdullah, Nadja Bogdanova, Peter Wieacker, Arseni Markoff, Thean-Hock Tang
PURPOSE: The aim of this study was to evaluate a new predisposition factor, M2/ANXA5 (RPRGL3), in recurrent pregnancy loss (RPL) patients of Malay origin, since it was previously known that the prevalence of this condition is relatively high among the Malay population of Malaysia, where conventional hereditary thrombophilia factors have been generally ruled out. METHODS: A total of 232 women who had experienced ≥2 unexplained RPL and 141 available male partners were recruited, with 360 healthy Malay and 166 parous female controls...
April 2017: Journal of Assisted Reproduction and Genetics
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