keyword
MENU ▼
Read by QxMD icon Read
search

Thrombophilia

keyword
https://www.readbyqxmd.com/read/28079536/non-vitamin-k-antagonist-oral-anticoagulants-in-patients-with-severe-inherited-thrombophilia-a-series-of-33-patients
#1
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/28075532/clinical-and-biochemical-characterization-of-the-prothrombin-belgrade-mutation-in-a-large-serbian-pedigree-new-insights-into-antithrombin-resistance-mechanism
#2
Predrag Miljic, Maja Gvozdenov, Yuki Takagi, Akira Takagi, Iva Pruner, Marija Dragojevic, Branko Tomic, Jelena Bodrozic, Tetsuhito Kojima, Dragica Radojkovic, Valentina Djordjevic
BACKGROUND: The recently reported c.1787G>A mutation in the prothrombin gene leads to Arg596Gln replacement in the protein molecule (prothrombin Belgrade). This substitution impairs binding of antithrombin to thrombin and results in inherited thrombophilia, known as antithrombin resistance. OBJECTIVES: We aimed to elucidate the clinical and biochemical characteristics of thrombophilia associated with antithrombin resistance in a large Serbian family with the prothrombin Belgrade mutation...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
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/28063132/evaluation-of-role-of-fv-fviii-and-aplas-in-the-pathogenesis-of-apcr-in-fv-leiden-negative-dvt-patients-a-study-in-india
#4
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/28057640/murine-systemic-thrombophilia-and-hemolytic-uremic-syndrome-from-a-factor-h-point-mutation
#5
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/28054901/libman-sacks-endocarditis-with-unusual-large-size-vegetation-involving-the-mitral-valve
#6
Amjad Bani Hani, Mahmoud Abu-Abeeleh, Murad M Al Kharabsheh, Lubaba Qabba'ah
Antiphospholipid syndrome (APS) is an autoimmune hypercoagulable disorder characterized by thrombophilia, vascular thrombosis, and recurrent abortions associated with persistent antiphospholipid antibodies. APS may exist in its primary form, or more commonly is found to be associated with variety of rheumatic disorders, such as systemic lupus erythematosus. Cardiac involvement is not an uncommon complication in primary antiphospholipid patients. Libman-Sacks lesions are typically small, sessile, and wart-like, varying in size from 1-4 mm...
21, 2016: Heart Surgery Forum
https://www.readbyqxmd.com/read/28049360/identification-of-genetic-aberrations-in-thrombomodulin-gene-in-patients-with-recurrent-venous-thromboembolism
#7
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
#8
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/28042559/successful-anticoagulation-therapy-for-antiphospholipid-syndrome-with-mobile-aortic-thrombi
#9
Hyun Oh Park, Seong Ho Moon, Jong Woo Kim, Joung Hun Byun, Sung Hwan Kim, Jun Ho Yang, Chung-Eun Lee, Jong-Duk Kim
Hypercoagulable states have been associated with aortic thrombosis. Antiphospholipid syndrome (APS) is one of the commonest types of acquired thrombophilia. We report the case of successful anticoagulation management in an APS patient with mobile thrombi within the aorta. A 58-year-old male patient presented to the emergency department (ED) with right-sided hemiparesis. His first symptoms were noted approximately 12-16 hours before presentation to the ED. Magnetic resonance imaging of the brain showed acute embolic infarction of the left frontal and parietotemporal lobes...
December 2016: Vascular Specialist International
https://www.readbyqxmd.com/read/28038774/cerebral-venous-thrombosis-at-high-altitude-a-systematic-review
#10
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/28033561/post-pregnancy-aspirin-resistance-appears-not-to-be-related-with-recurrent-hypertensive-disorders-of-pregnancy
#11
Carolien N H Abheiden, Wessel W Fuijkschot, Arda Arduç, Jeske J K van Diemen, Ankie M Harmsze, Marjon A de Boer, Abel Thijs, Johanna I P de Vries
OBJECTIVE: The FRUIT-RCT concluded that low-molecular-weight heparin added to aspirin compared to treatment with aspirin alone is beneficial in the prevention of early-onset hypertensive disorders of pregnancy (HD) in women with inheritable thrombophilia and prior HD and/or a small-for-gestational age (SGA) infant leading to delivery before 34 weeks gestation. The aim of this study is to answer the question whether aspirin resistance is associated with recurrent HD. STUDY DESIGN: Women with and without recurrent HD matched for age, study arm, and chronic hypertension were invited for this follow-up study 6-16 years after they participated in the FRUIT-RCT...
December 21, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28028988/direct-oral-anticoagulants-in-patients-with-thrombophilia-challenges-in-diagnostic-evaluation-and-treatment
#12
REVIEW
Anetta Undas, Tadeusz Góralczyk
Direct oral anticoagulants (DOACs) or non-vitamin K oral anticoagulants (NOACs) are increasingly used in the prevention of recurrent venous thromboembolism (VTE), including that associated with thrombophilia. The efficacy of DOACs in thrombophilic patients, especially those with severe trombophilia or triple positive antiphospholipid syndrome (APS) with arterial thromboembolic events, remains controversial. Most case reports and case series indicate that DOACs are an attractive therapeutic option in the vast majority of these patients at high risk of recurrent VTE with more concerns raised in high-risk APS patients and these deficient in protein S (PS)...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
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
#13
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
#14
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/28010922/risk-factors-for-symptomatic-venous-and-arterial-thromboembolism-in-newborns-children-and-adolescents-what-did-we-learn-within-the-last-20years
#15
Gili Kenet, Verena Limperger, Maria Shneyder, Ulrike Nowak-Göttl
Venous thrombosis (VTE) in children is increasingly diagnosed, as advanced medical care has increased treatment intensity of hospitalized pediatric patients. The aim of this review was to summarize the data available and to discuss the controversial issue of thrombophilia screening in the light of the pediatric data available. Follow-up data for VTE recurrence in children suggest a recurrence rate between 3% (neonates) and 21% in individuals with unprovoked VTE. Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of protein C-, protein S- and antithrombin deficiency, factor 5 (F5: rs6025), factor 2 (F2: rs1799963), even more pronounced when combined inherited thrombophilias [IT] were involved...
December 14, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28005926/the-central-role-of-kng1-gene-as-a-genetic-determinant-of-coagulation-pathway-related-traits-exploring-metaphenotypes
#16
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/27989533/the-use-of-direct-oral-anticoagulants-in-56-patients-with-antiphospholipid-syndrome
#17
Katarzyna Malec, Tadeusz Góralczyk, Anetta Undas
INTRODUCTION: Antiphospholipid syndrome (APS) is a common acquired thrombophilia associated with a high thrombotic risk, in which vitamin K antagonists (VKA) represent the mainstay of therapy. Case series involving up to 35 patients with APS suggested limited efficacy and safety of direct oral anticoagulants (DOACs). MATERIAL AND METHODS: In the prospective case series we followed 56 consecutive patients with APS (44 women and 12 men, aged from 22 to 64years), including 33 (60%) associated with systemic lupus erythematosus (SLE) and 16 (28...
December 14, 2016: Thrombosis Research
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
#18
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/27974007/impact-of-optimal-anticoagulation-therapy-on-chronic-venous-ulcer-healing-in-thrombophilic-patients-with-post-thrombotic-syndrome
#19
C A Hinojosa, S Olivares-Cruz, H Laparra-Escareno, S Sanchez-Castro, B Tamayo-Garcia, J E Anaya-Ayala
OBJECTIVE: Post-thrombotic syndrome (PTS) is the long-term sequelae of deep venous thrombosis (DVT). PTS clinical manifestations include chronic leg pain, oedema, lipodermatosclerosis and ulcers. The objective of this study is to determine in patients with documented history of thrombophilias and DVT whether the number of previous thrombotic events and optimal anticoagulation therapy are associated with the time to venous ulcer healing following the start of compression therapy. METHOD: Retrospective analysis performed in thrombophilic patients under the age of 50 years old with chronic venous ulcers secondary to DVT at the wound clinic in the National Institute of Medical Sciences and Nutrition 'Salvador Zubirán ' in Mexico City...
December 2, 2016: Journal of Wound Care
https://www.readbyqxmd.com/read/27958626/genetic-causes-of-recurrent-miscarriages
#20
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
keyword
keyword
5662
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"