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thrombophilia genetics

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https://www.readbyqxmd.com/read/29108964/familial-early-onset-deep-venous-thrombosis-associated-with-a-novel-hrg-mutation
#1
Junfu Luo, Wenwen Zhang, Qingfu Zeng, Weimin Zhou, Qing Cao, Wei Zhou
Deep venous thrombosis (DVT) remains a serious clinical problem that affects millions of people worldwide. Some DVT cases are caused by inherited thrombophilia derived from genetic aberrations and several disease-causing genes have been identified so far. Among them, HRG is an uncommon one with limited related reports. Here, we reported on a family with early-onset DVT where acquired risky conditions were excluded. Whole exome sequencing revealed a novel heterozygous single base pair substitution in exon 2 of HRG gene resulting in a conserved residue replacement of the protein (c...
November 3, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29108421/neonatal-arterial-ischemic-stroke-risk-related-to-family-history-maternal-diseases-and-genetic-thrombophilia
#2
Juan Arnaez, Gemma Arca, Ana Martín-Ancel, Thais Agut, Alfredo Garcia-Alix
The objective of this study was to evaluate the heritability of neonatal arterial ischemic stroke (NAIS) in relation to family history of thromboembolic event, maternal diseases, and thrombophilia in both parents ( F5G1691A, F2G20210A, and MTHFRC677 T mutations). Forty-two consecutive infants ≥36 weeks of gestation <28 days of life with acute symptomatic NAIS and their parents, as well as 129 controls, were prospectively recruited. Information on maternal data (age, body mass index, oral contraception, migraine, epilepsy, hypertension, and immune disease) and a 3-generation pedigree regarding myocardial infarction, pulmonary embolism, cerebrovascular event, and deep vein thrombosis were obtained...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#3
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29040284/the-prevalence-and-clinical-manifestation-of-hereditary-thrombophilia-in-korean-patients-with-unprovoked-venous-thromboembolisms
#4
Su Yeon Lee, Eun Kyoug Kim, Min Sun Kim, Sun Hye Shin, Haseong Chang, Shin Yi Jang, Hee-Jin Kim, Duk-Kyung Kim
BACKGROUND: Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We investigated the incidence and clinical characteristics of HT in Korean patients with unprovoked venous thromboembolism (VTE). METHODS: Among 369 consecutive patients with thromboembolic event who underwent thrombophilia tests, we enrolled 222 patients diagnosed with unprovoked VTE. The presence of HT was confirmed by DNA sequencing of the genes that cause deficits in natural anticoagulants (NAs)...
2017: PloS One
https://www.readbyqxmd.com/read/28971443/cerebral-thrombosis-a-neurogenetic-approach
#5
Christos Yapijakis
Cerebral venous thrombosis (CVT) is a severe multifactorial condition with various clinical manifestations that may include headache, papilledema, seizures, focal deficits, coma and death. The mortality rate of untreated CVT is up to 50%, but it drops to 10% when CVT is properly treated. Prevention of CVT is feasible through healthy lifestyle, genetic counseling, molecular genetic analysis for common thrombophilia-related mutations, and prophylactic anticoagulative medication.
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28932552/chylothorax-after-pediatric-cardiac-surgery-complicates-short-term-but-not-long-term-outcomes-a-propensity-matched-analysis
#6
Nikoletta R Czobor, György Roth, Zsolt Prodán, Daniel J Lex, Erzsébet Sápi, László Ablonczy, Mihály Gergely, Edgar A Székely, János Gál, Andrea Székely
BACKGROUND: The occurrence of postoperative chylothorax in children with congenital heart disease is a rare and serious complication in cardiac intensive care units (ICUs). The aim of our study was to identify the perioperative characteristics, treatment options, resource utilization and long term complications of patients having chylothorax after a pediatric cardiac surgery. METHODS: Patients were retrospectively assessed for the presence of chylothorax between January 2002 and December 2012 in a tertiary national cardiac center...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#7
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
November 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28924537/inherited-thrombophilias-could-influence-the-reproductive-outcome-in-women-with-systemic-lupus-erythematosus
#8
R Robeva, D Tanev, S Andonova, M Nikolova, A Tomova, Ph Kumanov, A Savov, R Rashkov, Zl Kolarov
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with different reproductive complications in the affected women. Inherited thrombophilias are genetic factors increasing the risk for thromboembolism and recurrent pregnancy loss, but their influence on other reproductive disturbances in SLE patients has not been completely clarified. Two hundred and twenty-three Caucasian women (112 with SLE and 111 controls) were included in the study. Complete reproductive history of all SLE patients was carefully obtained...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28914273/patterns-and-appropriateness-of-thrombophilia-testing-in-an-academic-medical-center
#9
Nicholas Cox, Stacy A Johnson, Sara Vazquez, Ryan P Fleming, Matthew T Rondina, David Kaplan, Stephanie Chauv, Gabriel V Fontaine, Scott M Stevens, Scott Woller, Daniel M Witt
BACKGROUND: Clinical guidelines recommend against routine use of thrombophilia testing in patients with acute thromboembolism. Thrombophilia testing rarely changes acute management of a thrombotic event. OBJECTIVE: To determine appropriateness of thrombophilia testing in a teaching hospital. DESIGN: Retrospective cohort study. SETTING: One academic medical center in Utah. PARTICIPANTS: All patients who received thrombophilia testing between July 1, 2014, and December 31, 2014...
September 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#10
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
November 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28820408/-thrombophilic-genetic-mutations-and-polymorphisms-in-women-with-infertility-and-failed-in-vitro-fertilization
#11
G Abrahamyan
Occurrence of pregnancy after in vitro fertilization depends of two components: functional adequacy of the embryo at the blastocyst stage and receptivity of endometrium, which, according to modern perception, are determinate in achieving optimal conditions of implantation. From the pregnancy occurrence point of view, as well as in regard to its further development , implantation is the most crucial phase of IVF/ICSI and ET. As the same time, this phase is also the most vulnerable. Multiple researches have proven the role of mother thrombophilia for genesis of gestation complications and early embryo losses, but in relation to this problem i the context of IVF there is still a lot to be detailed...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28820406/-results-of-preparation-and-implementation-of-ivf-program-in-patients-with-thrombophilia-and-history-of-failed-ivf
#12
G Abrahamyan
The problem of infertility and reproductive losses maintains its urgency, as well as medical and social significance. Frequency of infertility in overall population, according to the data from different authors, varies from 9 to 18 per cent. Methods of aided reproductive technologies (ART) opened a new era in the field of correction of infertile marriage. As a result, more and more couples choose to solve this problem by means of aided reproductive technologies (ART): in-vitro fertilization (IVF) and embryo transfer (ET)...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28819944/contribution-of-inherited-thrombophilia-to-recurrent-miscarriage-in-the-polish-population
#13
Hubert Wolski, Magdalena Barlik, Krzysztof Drews, Andrzej Klejewski, Grażyna Kurzawińska, Marcin Ożarowski, Zdzisław Łowicki, Agnieszka Seremak-Mrozikiewicz
INTRODUCTION: The aim of the study was to evaluate the contribution of genetic variants determining inherited thrombophilia to recurrent miscarriage (RM) in the Polish population. The following polymorphisms were analyzed: 1691G>A, 1328T>C of coagulation factor V, 20210G>A of coagulation factor II, R353Q (11496G>A) of coagulation factor VII, 667C>T, 1298A>C, 1793G>A of MTHFR. MATERIAL AND METHODS: A total of 359 women with ≥ 2 subsequent recurrent miscarriages (303 < 13 weeks of gestation (w...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28804827/assessment-of-hereditary-thrombophilia-performance-of-antithrombin-at-testing
#14
Jana N Gausman, Richard A Marlar
Antithrombin (AT) is a naturally occurring plasma inhibitor of coagulation, which is a synthesized in the liver. AT inhibits coagulation serine proteases (the enzymatically activated forms of the clotting factors), mainly thrombin (factor IIa) and factor Xa, but also to a lesser extent factors IXa, XIa, and XIIa. Acting alone, AT inhibits coagulation factors, but does this very slowly; however, when coupled with heparin as a cofactor, the speed of inhibition is increased many fold. The AT/Heparin complex is the most powerful naturally occurring anticoagulant in blood...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#15
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28742523/pregnancy-outcomes-among-patients-with-recurrent-pregnancy-loss-and-uterine-anatomic-abnormalities
#16
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
#17
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
#18
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
#19
MULTICENTER STUDY
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 9 Swiss hospitals...
October 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28599907/association-of-plasminogen-activator-inhibitor-1-serpine1-polymorphisms-and-aneurysmal-subarachnoid-hemorrhage
#20
MULTICENTER STUDY
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
BACKGROUND: Genetic variations of the serine proteinase inhibitor family E member 1 (SERPINE1) gene, which encodes plasminogen activator inhibitor 1, correlate with serum levels of its product and are associated with thrombophilia and coronary atherosclerosis. Various SERPINE1 ;gene polymorphisms have been identified. However, only the functional 5G/4G polymorphism has been assessed in the context of aneurysmal subarachnoid hemorrhage (aSAH). We assessed associations of 6 SERPINE1 polymorphisms with the clinical sequelae of aSAH...
September 2017: World Neurosurgery
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