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thrombophilia genetics

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https://www.readbyqxmd.com/read/28208204/thrombophilic-evaluation-in-patients-with-acute-pulmonary-embolism
#1
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
#2
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...
January 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28063537/facteurs-g%C3%A3-n%C3%A3-tiques-%C3%A3-prendre-en-consid%C3%A3-ration-dans-le-cadre-de-l-examen-gyn%C3%A3-cologique-annuel
#3
R Douglas Wilson, Sylvie Langlois
OBJECTIF: Offrir aux médecins un survol des troubles génétiques courants qui devraient être pris en considération dans le cadre de l'examen gynécologique annuel d'une patiente, et ce, afin de déterminer le risque que court celle-ci ou d'en venir à procéder à des examens particuliers ou à orienter la patiente vers un autre service de sous-spécialité, en fonction de ses antécédents personnels ou familiaux. OPTIONS: Ces renseignements d'ordre génétique peuvent être utilisés aux fins de la sensibilisation des patientes et du dépistage ou du diagnostic de possibles maladies et/ou mutations...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28057640/murine-systemic-thrombophilia-and-hemolytic-uremic-syndrome-from-a-factor-h-point-mutation
#4
Yoshiyasu Ueda, Imran Mohammed, Delu Song, Damodar Gullipalli, Lin Zhou, Sayaka Sato, Yuan Wang, Shuchi Gupta, Zhongjian Cheng, Hong Wang, Jialing Bao, Yingying Mao, Lawrence Brass, X Long Zheng, Takashi Miwa, Matthew Palmer, Joshua Dunaief, Wen-Chao Song
Complement plays a key role in host defense but its dysregulation can cause autologous tissue injury. Complement activation is normally controlled by regulatory proteins including factor H (FH) in plasma and membrane cofactor protein (MCP) on the cell surface. Mutations in FH and MCP are linked to atypical hemolytic uremic syndrome, a type of thrombotic microangiopathy (TMA) that causes renal failure in patients. We describe here that disruption of FH function on the cell surface can also lead to disseminated complement-dependent macrovascular thrombosis...
January 5, 2017: Blood
https://www.readbyqxmd.com/read/28049360/identification-of-genetic-aberrations-in-thrombomodulin-gene-in-patients-with-recurrent-venous-thromboembolism
#5
Abrar Ahmad, Kristina Sundquist, Bengt Zöller, Peter J Svensson, Jan Sundquist, Ashfaque A Memon
Thrombomodulin (THBD) serves as a cofactor for thrombin-mediated activation of anticoagulant protein C pathway. Genetic aberrations in THBD have been studied in arterial and venous thrombosis. However, genetic changes in THBD and their role in the risk assessment of recurrent venous thromboembolism (VTE) are not well understood. The aim of the present study was to identify the genetic aberrations in THBD and their association with the risk of VTE recurrence in a prospective population-based study. We sequenced the entire THBD gene, first in selected patients with VTE (n = 95) by Sanger sequencing and later validated those polymorphisms with minor allele frequency (MAF) ≥5% in the whole study population (n = 1465 with the follow-up period of 1998-2008) by Taqman polymerase chain reaction...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28049358/thrombophilia-screening
#6
Giuseppe Colucci, Dimitrios A Tsakiris
The utility of thrombophilia testing in clinical practice is still a matter of debate because studies have not shown a benefit in the reduction of recurrent venous thromboembolism (VTE) risk in patients with thrombosis, despite the clearly higher VTE risk for first thrombosis. Screening for thrombophilia is indicated in selected patients. Particularly in selected young patients, especially women of childbearing age, the knowledge of the genetic thrombophilic defect may help in specific situations to decrease the risk of VTE events...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28027559/the-contribution-of-hereditary-thrombophilia-to-increasing-the-frequency-of-thrombosis-in-patients-with-ph-negative-myeloproliferative-neoplasms-including-the-victims-from-the-chornobyl-accident
#7
O Y Mishcheniuk, V M Shkarupa, O M Kostukevich, L V Neumerzhitcka, S M Kravchenko, S V Klymenko
OBJECTIVE: The definition of a contribution of the carriage of the G1691A allele of thecoagulation factor V gene and the G20210A allele of the coagulation factor II gene in the development of thrombosis in Ph negative myeloprolifer ative neoplasms (MPN) patients, who were irradiated in the dose range 0,001 0,99 Gy and who were not. MATERIALS AND METHODS: The clinical and molecular genetic characteristics of patients with radiation associated and spontaneous polycythemia vera (PV), essential trombotsytemiya (ET) and primary myelofibrosis (PMF) were ana lyzed...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#8
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...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28005926/the-central-role-of-kng1-gene-as-a-genetic-determinant-of-coagulation-pathway-related-traits-exploring-metaphenotypes
#9
Helena Brunel, Raimon Massanet, Angel Martinez-Perez, Andrey Ziyatdinov, Laura Martin-Fernandez, Juan Carlos Souto, Alexandre Perera, José Manuel Soria
Traditional genetic studies of single traits may be unable to detect the pleiotropic effects involved in complex diseases. To detect the correlation that exists between several phenotypes involved in the same biological process, we introduce an original methodology to analyze sets of correlated phenotypes involved in the coagulation cascade in genome-wide association studies. The methodology consists of a two-stage process. First, we define new phenotypic meta-variables (linear combinations of the original phenotypes), named metaphenotypes, by applying Independent Component Analysis for the multivariate analysis of correlated phenotypes (i...
2016: PloS One
https://www.readbyqxmd.com/read/27958626/genetic-causes-of-recurrent-miscarriages
#10
Marta Kacprzak, Marta Chrzanowska, Beata Skoczylas, Hanna Moczulska, Maciej Borowiec, Piotr Sieroszewski
Recurrent miscarriage is an important problem in reproductive health, which affects 1-5% of couples. The aim of this article is to summarize current knowledge on the genetic causes of recurrent miscarriage. It presents the most common parental genetic disorders (karyotype abnormalities, recessive diseases carrier status, dominant diseases and thrombophilia) connected with recurrent pregnancy loss, as well as research into other possible genetic causes. This review also sets out to demonstrate changes in the embryonic/fetal genome that may lead to abortions, and discusses the methods used to assess miscarried material, together with their advantages and disadvantages...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27855570/genetics-of-suspected-thrombophilia-in-serbian-females-with-infertility-including-three-cases-homozygous-for-fii-20210a-or-fv-1691a-mutations
#11
Jelena Djurovic, Oliver Stojkovic, Jelena Todorovic, Aleksandra Brajic, Sanja Stankovic, Svetlana Obradovic, Gorana Stamenkovic
Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure) may be, in a number of cases, explained by thrombophilia, either acquired or inherited. Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.). The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group...
November 18, 2016: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#12
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27820879/heparin-for-the-treatment-of-thrombosis-in-neonates
#13
REVIEW
Olga Romantsik, Matteo Bruschettini, Simona Zappettini, Luca Antonio Ramenghi, Maria Grazia Calevo
BACKGROUND: Among pediatric patients, newborns are at highest risk of developing thromboembolism. Neonatal thromboembolic (TE) events may consist of both venous and arterial thromboses and often iatrogenic complications (eg, central catheterization). Treatment guidelines for pediatric patients with TE events most often are extrapolated from the literature regarding adults. Options for the management of neonatal TE events include expectant management; nitroglycerin ointment; thrombolytic therapy or anticoagulant therapy, or a combination of the two; and surgery...
7, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27804939/-the-morphology-typical-combinations-of-polymorphic-genes-of-hemostasis-and-specific-features-of-the-pathogenesis-of-retrochorial-hematoma-in-missed-abortion
#14
A P Milovanov, N B Kuznetsova, I O Bushtyreva
AIM: to identify mutations and hemostatic gene polymorphisms typical for retrochorial hematoma (RCH) and to study its pathogenesis in missed abortion. SUBJECTS AND METHODS: A PCR assay was used to detect the genetic forms of thrombophilia in 270 patients with ultrasonographically verified RCH. Logistic regression analysis revealed that with the F7 (proconvertin, coagulation factor (CF) VII G10976A polymorphism or with the F13 (fibrinase, CF XIII) G>T, or FGB (fibrinogen β-chain) G455A polymorphism, the risk of RCH was 2...
2016: Arkhiv Patologii
https://www.readbyqxmd.com/read/27792840/maternal-genetic-polymorphisms-and-unexplained-recurrent-miscarriage-a-systematic-review-and-meta-analysis
#15
REVIEW
X Shi, X Xie, Y Jia, S Li
The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genetic polymorphisms that were suspected to be involved in RM, and discussed potential genetic biomarkers of RM. Eligible articles were identified in PubMed, Medline, Embase and CNKI. Odd ratios (ORs) and 95% confidence intervals (CIs) were used to describe the strength of association, and a probability value (p value) of 0...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27766963/associations-of-recurrent-miscarriages-with-chromosomal-abnormalities-thrombophilia-allelic-polymorphisms-and-or-consanguinity-in-saudi-arabia
#16
Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27766051/thrombophilia-in-east-asian-countries-are-there-any-genetic-differences-in-these-countries
#17
REVIEW
Toshiyuki Miyata, Keiko Maruyama, Fumiaki Banno, Reiko Neki
In recent years, genetic analyses of congenital deficiencies of three anticoagulant proteins, antithrombin, protein C (PC) and protein S (PS), in East Asian patients with venous thromboembolism (VTE) have greatly increased. The PS-K196E mutation is often identified in the Japanese population with an allelic frequency of 0.86 %, and a total of approximately 10,000 Japanese are estimated to be homozygotes. The heterozygotes show PS anticoagulant activities ranging from 40 to 110 %, and 16 % lower mean anticoagulant activity than that in wild-type individuals...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27729560/thrombophilic-gene-mutations-in-relation-to-different-manifestations-of-venous-thromboembolism-a-single-tertiary-center-study
#18
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27683526/deficiencies-of-the-natural-anticoagulants-novel-clinical-laboratory-aspects-of-thrombophilia-testing
#19
Zsuzsanna Bereczky, Réka Gindele, Marianna Speker, Judit Kállai
Venous thrombosis is a typical common complex disease as acquired and genetic causes play a role in its development. The different "loss of function" mutations of the natural anticoagulant system lead to antithrombin (AT), protein C (PC) and protein S (PS) deficiencies. Since thrombophilia testing has high cost and it has several methodological issues (analytical, pre-analytical), which makes the interpretation of results difficult, considerations should be made on the indications of testing, on the parameters that are measured and on the best available method to use...
April 2016: EJIFCC
https://www.readbyqxmd.com/read/27638626/genetic-risk-factors-in-venous-thromboembolism
#20
Cristina Hotoleanu
Genetic risk factors predispose to thrombophilia and play the most important etiopathogenic role in venous thromboembolism (VTE) in people younger than 50 years old. At least one inherited risk factor could be found in about half of the cases with a first episode of idiopathic VTE.Roughly, genetic risk factors are classified into two main categories: loss of function mutations (such as deficiencies of antithrombin, protein C, protein S) and gain of function mutations, (such as prothrombin mutation G20210A, factor V Leiden)...
2017: Advances in Experimental Medicine and Biology
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