keyword
https://read.qxmd.com/read/38507367/thrombophilia-genetic-mutations-and-their-relation-to-disease-severity-among-patients-with-covid-19
#1
JOURNAL ARTICLE
Hend Moness, Suzan Omar Mousa, Sarah Omar Mousa, Nashwa Mohamed Adel, Reham Ali Ibrahim, Ebtesam Esmail Hassan, Nadia Ismail Abdelhameed, Dalia Abdelrahman Meshref, Noha M Abdullah
OBJECTIVES: Patients with COVID-19 infection appear to develop virus-induced hypercoagulability resulting in numerous thrombotic events. The aim of the present study was to determine the relationship between the thrombophilia genes mutations (prothrombin G20210A, factor V Leiden, and methyltetrahydrofolate reductase (MTHFR)) and the severity of COVID-19 patients. DESIGN: Prospective cross-sectional study. METHOD: One hundred and forty patients (80 adults and 60 children) were included in the current study...
2024: PloS One
https://read.qxmd.com/read/38498041/thrombosis-risk-in-double-heterozygous-carriers-of-factor-v-leiden-and-prothrombin-g20210a-in-finngen-and-the-uk-biobank
#2
JOURNAL ARTICLE
Justine Ryu, Joel T Rämö, Sean Joseph Jurgens, Teemu Niiranen, Simone Sanna-Cherchi, Kenneth A Bauer, Amelia Haj, Seung Hoan Choi, Aarno Palotie, Mark Daly, Patrick T Ellinor, Pavan K Bendapudi
The Factor V Leiden (FVL, rs6025) and prothrombin G20210A (PTGM, rs1799963) polymorphisms are two of the most well-studied genetic risk factors for venous thromboembolism (VTE). However, double heterozygosity (DH) for FVL and PTGM remains poorly understood, with prior studies in marked disagreement about the thrombosis risk conferred by the DH genotype. Utilizing multi-dimensional data from the UK Biobank (UKB) and the FinnGen biorepositories, we evaluated the clinical impact of DH carrier status across 937,939 individuals...
March 18, 2024: Blood
https://read.qxmd.com/read/38491267/outcomes-of-venous-thromboembolism-in-patients-with-inherited-thrombophilia-treated-with-direct-oral-anticoagulants-insights-from-the-riete-registry
#3
JOURNAL ARTICLE
Omri Cohen, Gili Kenet, Sarina Levy-Mendelovich, Inna Tzoran, Benjamin Brenner, Cristina De Ancos, Patricia López-Miguel, José F Varona, Judith Catella, Manuel Monreal
While direct oral anticoagulants (DOACs) are frequently used to treat venous thromboembolism (VTE), the outcomes of patients with inherited thrombophilia (IT) receiving DOACs for VTE remain understudied. We used data from the international RIETE registry to compare the rates of VTE recurrences, major bleeding, and mortality during anticoagulant treatment in VTE patients with and without IT, grouped by the use of DOACs or standard anticoagulant therapy. Among 103,818 enrolled patients, 21,089 (20.3%) were tested for IT, of whom 8422 (39...
March 16, 2024: Journal of Thrombosis and Thrombolysis
https://read.qxmd.com/read/38490955/diagnosis-and-treatment-of-venous-thromboembolism-during-pregnancy-relate-to-genetic-polymorphism
#4
REVIEW
Qingcheng Yang, Xuechang Wang, Rui Wang, Aihua Li
OBJECTIVES: Previous research had shown that age, a positive family history, comorbidities, major surgical operations, gestation, and use of several medications could increase the incidence of venous thromboembolism (VTE). With the development of medical and clinical individualized treatment, many people exposed to above risk factors did not develop VTE, suggested that genetic factors are also involved in the development of VTE. In this review, we aim to summarize VTE diagnosis and treatment in pregnancy women related to gene polymorphism...
March 15, 2024: Vascular
https://read.qxmd.com/read/38487678/fibrinolysis-biomarker-thrombin-and-activated-protein-c-level-alterations-after-coagulation-activation-depend-on-type-of-thrombophilia-and-clinical-phenotype
#5
JOURNAL ARTICLE
Sara Reda, Nadine Schwarz, Jens Müller, Hannah L McRae, Johannes Oldenburg, Bernd Pötzsch, Heiko Rühl
BACKGROUND: Recently, we have shown alterations in the anticoagulant response to recombinant activated factor VII (rFVIIa)-induced coagulation activation in patients with thrombophilia. OBJECTIVES: This study aimed to extend this in vivo model to fibrinolysis biomarkers. METHODS: This interventional in vivo study included 56 patients with thrombophilia and previous venous thromboembolism (VTE+), 38 without VTE (VTE-), and 35 healthy controls...
February 2024: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/38479723/total-shoulder-arthroplasty-in-patients-with-factor-v-leiden
#6
JOURNAL ARTICLE
Katie M Zehner, Joshua G Sanchez, Meera M Dhodapkar, Maxwell Modrak, Xuan Luo, Jonathan N Grauer
BACKGROUND: Anatomic and reverse total shoulder arthroplasty (TSA) are effective treatment options for end-stage glenohumeral osteoarthritis. However, consideration for pre-existing conditions must be taken into account. Factor V Leiden (FVL), the most common inherited thrombophilia, is one such condition that predisposes to a prothrombotic state and may affect perioperative and longer-term outcomes following TSA. METHODS: Adult patients undergoing primary TSA for osteoarthritis indication were identified in the 2010 through October 2021 PearlDiver M157 database...
March 11, 2024: Journal of Shoulder and Elbow Surgery
https://read.qxmd.com/read/38463930/factor-v-leiden-mthfr-and-fxiiival34leu-gene-polymorphisms-and-their-association-with-clinical-features-and-risk-of-diabetic-retinopathy-in-patients-with-type-2-diabetes
#7
JOURNAL ARTICLE
Atefeh Rahimi, Nastaran Moridi, Amin Golestani, Gholamreza Anani-Sarab, Fatemeh Salmani, Gholamhossein Yaqubi, Behzad Mesbahzadeh, Mohammad Ali Jalalifar, Mohammad Malekaneh, Seyed Mehdi Sajjadi
BACKGROUND: Diabetic retinopathy (DR) is expanding to epidemic levels globally due to the progressing prevalence of diabetes mellitus (DM). In this study, the association between factor V Leiden ( FVL ), MTHFR C677T, and FXIIIVal34Leu polymorphisms and diabetic retinopathy was investigated in Eastern Iran. METHODS: This case-control study enlisted the participation of 300 people (diabetic patients=100, diabetic retinopathy patients=100, healthy controls=100), and polymorphisms were examined by Tetra primer ARMS-PCR...
2024: Caspian Journal of Internal Medicine
https://read.qxmd.com/read/38463113/a-rare-delayed-onset-of-esophageal-varices-and-portal-vein-thrombosis-in-a-ten-year-old-patient-following-umbilical-vein-catheterization
#8
Qusay Abdoh, Abdalaziz Darwish, Mohammad Alnees, Mahdi Awwad, Duha Najajra, Mai Alsadi, Maysa Alawneh
INTRODUCTION AND SIGNIFICANCE: Portal vein thrombosis (PVT) is not commonly observed in patients, particularly those who have gone through neonatal intensive care unit (NICU) stays and had umbilical catheters. Although PVT can potentially cause hypertension and gastrointestinal bleeding it is highly unusual for this condition to manifest during childhood. CASE PRESENTATION: The authors present a case of a 10-year-old child who developed portal hypertension, esophageal varices, and multiple thrombophilia associated mutations...
March 2024: Annals of Medicine and Surgery
https://read.qxmd.com/read/38442978/postpartum-ovarian-vein-thrombosis-with-left-renal-venous-infarction-after-vaginal-delivery
#9
JOURNAL ARTICLE
Wingman Cheung, Sanne Stegwee, Dennis van Hamont, Jantien Visser
A primipara in her late 20s presented with abdominal pain and pain in the left flank 14 days after a ventouse delivery. She was treated with antibiotics, antiemetics and analgesics with the initial differential diagnosis of cystitis, pyelonephritis or nephrolithiasis. Despite the treatment, the patient experienced increased colic pain and nausea. An ultrasound showed an enlarged left kidney, suggesting pyelonephritis, and thereby, the antibiotic treatment was adjusted accordingly. Despite additional pain medication, pain relief could not be achieved...
March 5, 2024: BMJ Case Reports
https://read.qxmd.com/read/38442893/the-contribution-of-inherited-thrombophilia-to-venous-thromboembolism-in-cancer-patients
#10
REVIEW
José Costa, António Araújo
Although the relationship between venous thromboembolism (VTE) and cancer has been a subject of study, knowledge of the contribution of thrombophilia to thrombosis in patients with cancer is still very limited. The aim of this article is to collect present knowledge on the contribution of inherited thrombophilia to VTE in cancer patients. We performed a search in Google Scholar and PubMed and selected 21 from 76 returned articles. Then we made a narrative review of the selected articles. We describe 11 studies on the contribution of inherited thrombophilia to VTE in cancer patients in general and 10 on that contribution in specific types of cancer: 1 in colorectal cancer, 4 in breast cancer, 1 in gynecologic cancer and 4 in hematopoietic malignancies...
2024: Clinical and Applied Thrombosis/hemostasis
https://read.qxmd.com/read/38414080/successful-microvascular-surgery-in-patients-with-thrombophilia-in-head-and-neck-surgery-a-case-series
#11
JOURNAL ARTICLE
Julian Faber, Frank Schuster, Stefan Hartmann, Roman C Brands, Andreas Fuchs, Anton Straub, Markus Fischer, Urs Müller-Richter, Christian Linz
BACKGROUND: In this case series, a perioperative anticoagulation protocol for microvascular head and neck surgery in patients with thrombophilia is presented. Microvascular free-flap surgery is a standard procedure in head and neck surgery with high success rates. Nevertheless, flap loss-which is most often caused by thrombosis-can occur and has far-reaching consequences, such as functional impairment, prolonged hospitalization, and increased costs. The risk of flap loss owing to thrombosis is significantly increased in patients with thrombophilia...
February 28, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38407082/inherited-thrombophilia-and-risk-of-thrombosis-in-children-with-cancer-a-single-center-experience
#12
JOURNAL ARTICLE
Ana Đordević, Blaženka Grahovac, Silvije Šegulja, Lidija Bilić Zulle, Jelena Roganović
OBJECTIVES: Thrombosis is an increasingly recognized complication of childhood malignancy and its treatment. The incidence and etiology of pediatric cancer-related thrombosis is still not well understood. The aim of this study was to evaluate the prevalence of common prothrombotic genetic conditions in children with cancer, the frequency of thrombosis, and the role of inherited thrombophilia in the development of thrombosis in a pediatric oncology population. PATIENTS AND METHODS: Forty-seven children (36 treated for hematological malignancies and 11 for solid tumors) with a median age of 8...
December 2023: Acta Medica Academica
https://read.qxmd.com/read/38351006/association-of-inherited-thrombophilia-mutations-and-their-combinations-among-palestinian-women-with-unexplained-recurrent-miscarriage
#13
JOURNAL ARTICLE
Ayman A Najjar, Imam Hassouna, Mahmoud A Srour, Hany M Ibrahim, Randa Y Assi, Heba M Abd El Latif
BACKGROUND: Inherited thrombophilia (IT) has a complex pathophysiology and is associated with recurrent miscarriage (RM) by causing placental insufficiency and inhibiting fetal development. However, thrombophilia screening in unexplained RM cases is still questionable. This study aimed to investigate the association between the common eight IT mutations and their combinations among Palestinian women with unexplained RM. METHODS: This is an unmatched case-control study with 200 women (100 unexplained RM cases, 100 controls)...
February 13, 2024: Thrombosis Journal
https://read.qxmd.com/read/38342998/microsurgical-breast-reconstruction-and-primary-hypercoagulable-disorders
#14
JOURNAL ARTICLE
Rakel M Zarb, Charles Lamberton, Aishwarya Ramamurthi, Vince Berry, Karri A Adamson, Erin L Doren, Patrick C Hettinger, John B Hijjawi, John A LoGiudice
BACKGROUND: Primary hypercoagulable disorders pose a significant challenge to microsurgeons and have traditionally been regarded as a relative contraindication to free tissue transfer. Since free flaps offer numerous advantages in breast reconstruction, there is an effort to expand the population to whom these operations can be safely offered. The purpose of this study is to describe our chemoprophylaxis regimen in cases of primary hypercoagulability, as well as to compare flap outcomes and complications between women with and without hypercoagulability...
February 2024: Microsurgery
https://read.qxmd.com/read/38312827/prevention-of-thromboembolic-events-after-radical-prostatectomy-in-patients-with-hereditary-thrombophilia-due-to-a-factor-v-leiden-mutation-by-multidisciplinary-coagulation-management
#15
JOURNAL ARTICLE
Randi M Pose, Sophie Knipper, Jonas Ekrutt, Mara Kölker, Pierre Tennstedt, Hans Heinzer, Derya Tilki, Florian Langer, Markus Graefen
OBJECTIVE: To examine the perioperative impact of factor V Leiden mutation on thromboembolic events' risk in radical prostatectomy (RP) patients. With an incidence of about 5%, factor V Leiden mutation is the most common hereditary hypercoagulability among Caucasians and rarer in Asia. The increased risk of thromboembolic events is three- to seven-fold in heterozygous and to 80-fold in homozygous patients. METHODS: Within our prospectively collected database, we analysed 33 006 prostate cancer patients treated with RP between December 2001 and December 2020...
January 2024: Asian Journal of Urology
https://read.qxmd.com/read/38291601/inherited-thrombophilia-gene-mutations-and-risk-of-venous-thromboembolism-in-patients-with-cancer-a-systematic-review-and-meta-analysis
#16
JOURNAL ARTICLE
Danielle Carole Roy, Tzu-Fei Wang, Ronda Lun, Amin Zharai, Ranjeeta Mallick, Dylan Burger, Gabriele Zitikyte, Steven Hawken, Philip Wells
In the general population, individuals with an inherited thrombophilia have a higher risk of thrombosis, but the effect of inherited thrombophilia on the risk of cancer-associated venous thromboembolism (VTE) remains controversial. Our objective was to determine the risk of VTE in cancer patients with inherited thrombophilia. We conducted a systematic review and meta-analysis of studies reporting on VTE after a cancer diagnosis in adult patients who were tested for inherited thrombophilia. In September 2022, we searched Medline, EMBASE, and Cochrane Central...
January 30, 2024: American Journal of Hematology
https://read.qxmd.com/read/38228491/do-we-need-more-guidance-on-thrombophilia-testing-challenges-and-special-considerations
#17
REVIEW
Francesco Marongiu, Maria Filomena Ruberto, Silvia Marongiu, Antonella Mameli, Doris Barcellona
INTRODUCTION: Thrombophilia testing (TT) is a laboratory procedure designed to detect the risk factors involved in the pathogenesis of vascular occlusions. The role of TT is also controversial because it has a limited impact on the choice and duration of antithrombotic treatments. AREAS COVERED: We reviewed, by examining MEDLINE up to October 2023. Accepted and not accepted thrombophilia markers are discussed along with the appropriateness or not of prescribing TT in several conditions such as: provoked and unprovoked venous thromboembolism (VTE), women who are planning a pregnancy whose relatives had VTE or have a hereditary thrombophilia, before assumption of estro-progestins, after multiple pregnant loss, arterial thrombosis, retinal vein occlusion, and splanchnic vein thrombosis...
2024: Expert Review of Hematology
https://read.qxmd.com/read/38225166/determination-of-vwf-adamts-13-and-thrombospondin-1-in-venous-thromboembolism-and-relating-them-to-the-presence-of-factor-v-leiden-mutation
#18
JOURNAL ARTICLE
Anwar Al-Awadhi, Rajaa Marouf, Mehrez M Jadaon, Mohammad M Al-Awadhy
Thrombophilia in venous thromboembolism (VTE) is multifactorial. Von Willebrand factor (vWF) plays a major role in primary hemostasis. While elevated vWF levels are well documented in VTE, findings related to its cleaving protease (ADAMTS-13) are contradicting. The aim of this study was to determine vWF, ADAMTS-13, and the multifactorial Thrombospondin-1 (TSP-1) protein levels in patients after 3-6 months following an unprovoked VTE episode. We also explored a possible association with factor V Leiden (FVL) mutation...
2024: Clinical and Applied Thrombosis/hemostasis
https://read.qxmd.com/read/38205466/thrombophilia-testing-in-stroke-a-case-report-and-review-of-evidence
#19
Ranjit B Jasaraj, Ekaterina Proskuriakova, Suman Gaire, Aanchal Chaudhary, Pam Khosla
Thrombophilia is commonly associated with venous thromboembolism, but its relationship with arterial thrombosis, specifically stroke, is not as clearly established. Several large studies have failed to establish a significant connection between inherited thrombophilia and stroke. While tests for Factor V Leiden mutation, prothrombin mutation, protein C deficiency, protein S deficiency, antithrombin deficiency, and antiphospholipid antibodies are typically done for thrombophilia diagnosis, there appears to be little or no correlation between these markers and stroke...
December 2023: Curēus
https://read.qxmd.com/read/38137596/to-test-or-not-to-test-routine-thrombophilia-diagnostic-screening-of-women-with-reproductive-failures
#20
JOURNAL ARTICLE
Urszula Wysocka, Kinga Sałacińska, Iwona Pinkier, Łukasz Kępczyński, Wojciech Ałaszewski, Lech Dudarewicz, Agnieszka Gach
BACKGROUND: Recurrent reproductive failure is a global health issue affecting a significant number of women. Thrombophilias have been implicated as a possible cause. Inherited thrombophilias include a single nucleotide variant on factor V Leiden and prothrombin. OBJECTIVE: The aim of this study was to evaluate the association between the following single nucleotide variants: factor V Leiden (c.1601G>A), the prothrombin gene (c.*97G>A) and the reproductive failure in the Polish population...
December 6, 2023: Journal of Clinical Medicine
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