keyword
https://read.qxmd.com/read/38115953/nxt007-mediated-hemostatic-potential-is-suppressed-by-activated-protein-c-catalyzed-inactivation-of-activated-factor-v
#21
JOURNAL ARTICLE
Yuto Nakajima, Kenichi Ogiwara, Keito Inaba, Takehisa Kitazawa, Keiji Nogami
BACKGROUND: Activated protein C (APC) inactivates activated factor (F) V (FVa) and FVIIIa. NXT007, an emicizumab-based engineered therapeutic bispecific antibody, enhances the coagulation potential of FVIII-deficient plasma (FVIIIdef-plasma) to near normal levels. However, little is known about the effect of APC-induced inactivation in NXT007-mediated hemostatic function. OBJECTIVES: To investigate the contribution of APC-mediated reactions to NXT007-driven hemostasis...
January 2024: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/38112221/the-relevance-of-prothrombotic-genetic-variants-in-women-who-experienced-pregnancy-loss-or-embryo-implantation-failure-a-retrospective-analysis-of-1922-cases
#22
JOURNAL ARTICLE
Gustavo Cernera, Renato Liguori, Dario Bruzzese, Giuseppe Castaldo, Giuseppe De Placido, Alessandro Conforti, Felice Amato, Carlo Alviggi, Marika Comegna
OBJECTIVE: The aim of our study was that to assess the allelic and genotype frequencies of nine prothrombotic gene variants in patients with a history of pregnancy loss and recurrent pregnancy loss (RPL). Women who underwent assisted reproductive technology (ART) with ongoing pregnancy and those with recurrent implantation failure (RIF) were also included. METHODS: Nine prothrombotic gene variants were evaluated: factor V Leiden (FVL), factor V, H1299R variant (FVR2), factor II (FII) G20210A, methylene-tetrahydrofolate reductase (MTHFR) C677T and A1298C, beta-fibrinogen -455G>A, factor XIII (FXIII) V34L, human platelet antigen-1 (HPA-1) L33P variants, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G...
December 19, 2023: International Journal of Gynaecology and Obstetrics
https://read.qxmd.com/read/38075960/the-association-between-epcr-gene-p-ser219gly-polymorphism-and-venous-thromboembolism-risk-a-case-control-study-meta-analysis-and-a-reproducibility-study
#23
REVIEW
Dóra Pituk, Tünde Miklós, Ágota Schlammadinger, Katalin Rázsó, Zsuzsanna Bereczky
BACKGROUND: The rs867186 single-nucleotide polymorphism in the PROCR gene (g.6936A > G, c.4600A > G) results in a serine-to-glycine substitution at codon 219 of endothelial protein C receptor (EPCR). We performed a case-control study followed by an updated meta-analysis of the association between this polymorphism and the risk of venous thromboembolism (VTE). OBJECTIVE AND METHODS: We enrolled 263 VTE patients and 320 unrelated healthy controls for the case-control study...
2023: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/38057822/spontaneous-miscarriage-driven-by-maternal-genetic-mutation-at-position-of-pai-1-844g-a-shed-light-on-a-race-specific-genetic-polymorphism
#24
JOURNAL ARTICLE
Afrah Ameri, Khalil Khashei Varnamkhasti, Sara Parhoudeh, Samire Khashei Varnamkhasti, Leila Naeimi, Sirous Naeimi
OBJECTIVE: Association between a genetic polymorphism and disease, either positively or negatively, within a population may not necessarily predict association in other race-ethnic populations. The aim of this study was to genotype well recognized thrombophilia associated polymorphisms as common risk factors for miscarriage and investigate their benefit to use as risk factors in southwest region of Iran females (Khuzestan) in the Arabs ethnic minority group with spontaneous miscarriage...
December 6, 2023: BMC Research Notes
https://read.qxmd.com/read/38053985/factor-v-leiden-interferes-with-protein-s-activity-assay
#25
JOURNAL ARTICLE
Baptiste Panaget, Jordan Wimmer, Delphine Rolland, Laurent Mauvieux, Laurent Sattler, Agathe Herb
No abstract text is available yet for this article.
November 2023: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/38053459/antibodies-against-advanced-glycation-end-products-and-malondialdehyde-acetaldehyde-adducts-identify-a-new-specific-subgroup-of-hitherto-patients-with-seronegative-arthritis-with-a-distinct-clinical-phenotype-and-an-hla-class-ii-association
#26
JOURNAL ARTICLE
Michelle D van den Beukel, Tineke J van Wesemael, Anna Titia W Hoogslag, Nicole V Borggreven, Tom Wj Huizinga, Annette Hm van der Helm-van Mil, René Em Toes, Diane van der Woude, Leendert A Trouw
OBJECTIVE: In rheumatoid arthritis (RA) around two-thirds of patients are autoantibody positive for rheumatoid factor, anti-citrullinated protein antibodies and/or anti-carbamylated protein antibodies. The remaining seronegative subgroup of patients is clinically heterogeneous and thus far, biomarkers predicting the disease course are lacking. Therefore, we analysed the value of other autoantibodies in RA directed against malondialdehyde-acetaldehyde adducts (MAA) and advanced glycation end-products (AGE)...
December 1, 2023: RMD Open
https://read.qxmd.com/read/38052102/genome-wide-association-study-meta-analysis-of-dizygotic-twinning-illuminates-genetic-regulation-of-female-fecundity
#27
JOURNAL ARTICLE
Hamdi Mbarek, Scott D Gordon, David L Duffy, Nikki Hubers, Sally Mortlock, Jeffrey J Beck, Jouke-Jan Hottenga, René Pool, Conor V Dolan, Ky'Era V Actkins, Zachary F Gerring, Jenny Van Dongen, Erik A Ehli, William G Iacono, Matt Mcgue, Daniel I Chasman, C Scott Gallagher, Samantha L P Schilit, Cynthia C Morton, Guillaume Paré, Gonneke Willemsen, David C Whiteman, Catherine M Olsen, Catherine Derom, Robert Vlietinck, Daniel Gudbjartsson, Lisa Cannon-Albright, Eva Krapohl, Robert Plomin, Patrik K E Magnusson, Nancy L Pedersen, Pirro Hysi, Massimo Mangino, Timothy D Spector, Teemu Palviainen, Yuri Milaneschi, Brenda W Penninnx, Adrian I Campos, Ken K Ong, John R B Perry, Cornelis B Lambalk, Jaakko Kaprio, Ísleifur Ólafsson, Karine Duroure, Céline Revenu, Miguel E Rentería, Loic Yengo, Lea Davis, Eske M Derks, Sarah E Medland, Hreinn Stefansson, Kari Stefansson, Filippo Del Bene, Bruno Reversade, Grant W Montgomery, Dorret I Boomsma, Nicholas G Martin
STUDY QUESTION: Which genetic factors regulate female propensity for giving birth to spontaneous dizygotic (DZ) twins? SUMMARY ANSWER: We identified four new loci, GNRH1, FSHR, ZFPM1, and IPO8, in addition to previously identified loci, FSHB and SMAD3. WHAT IS KNOWN ALREADY: The propensity to give birth to DZ twins runs in families. Earlier, we reported that FSHB and SMAD3 as associated with DZ twinning and female fertility measures. STUDY DESIGN, SIZE, DURATION: We conducted a genome-wide association meta-analysis (GWAMA) of mothers of spontaneous dizygotic (DZ) twins (8265 cases, 264 567 controls) and of independent DZ twin offspring (26 252 cases, 417 433 controls)...
December 5, 2023: Human Reproduction
https://read.qxmd.com/read/38027110/polycystic-ovary-syndrome-and-recurrent-pregnancy-loss-a-review-of-literature
#28
Rosa Wartena, Mushi Matjila
OBJECTIVE: PCOS is a syndrome of ovarian dysfunction associated with recurrent pregnancy loss. Several correlating factors have been investigated that influence the risk of pregnancy loss in PCOS. However, uncertainty remains about their contribution to pregnancy loss and prognosis. This review of literature aims to identify what is known and what requires further investigation on the relationship between PCOS and recurrent pregnancy loss, to guide future research and optimize medical guidance throughout pregnancy...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/38020573/venous-thromboembolism-associated-with-severe-dyspnoea-and-asthma-in-102%C3%A2-792-adults
#29
JOURNAL ARTICLE
Kristin Felicia Nilausen, Eskild Morten Landt, Suzan Al-Shuweli, Børge G Nordestgaard, Uffe Bødtger, Morten Dahl
BACKGROUND: The most recent guideline on acute pulmonary embolism (PE) indicates possible long-term sequelae such as dyspnoea and chronic thromboembolic pulmonary hypertension after a PE event. However, effects on lung function or asthma risk have not been evaluated in the general population. METHODS: We tested whether individuals with a venous thromboembolism (VTE) encompassing PE and deep vein thrombosis (DVT) have reduced lung function, or greater risks of dyspnoea and asthma using data from 102 792 adults from the Copenhagen General Population Study...
November 2023: ERJ Open Research
https://read.qxmd.com/read/37907247/management-of-recurrent-venous-thromboembolism-in-severe-immune-thrombocytopenia-a-case-report-and-a-review-of-the-literature
#30
JOURNAL ARTICLE
Mathias Haargaard Nielsen, Mustafa Vakur Bor
We report a case of a 58-year-old man with recurrent unprovoked deep vein thrombosis (DVT) and severe immune thrombocytopenia (ITP) with a platelet count of 19 × 109 /L. We further review studies reporting venous thromboembolism (VTE) in patients with severe ITP (≤ 35 × 109 /L) and identified 14 patients highlighting VTE risk factors and management of these patients. The present case had several risk factors for VTE (previous DVT, obesity, heterozygosity for factor V Leiden mutation, and previous splenectomy)...
October 31, 2023: Hämostaseologie
https://read.qxmd.com/read/37900992/risk-assessment-of-venous-thromboembolism-in-inflammatory-bowel-disease-by-inherited-risk-in-a-population-based-incident-cohort
#31
JOURNAL ARTICLE
Andrew S Rifkin, Zhuqing Shi, Jun Wei, Siqun Lilly Zheng, Brian T Helfand, Jonathan S Cordova, Vincent F Biank, Alfonso J Tafur, Omar Khan, Jianfeng Xu
BACKGROUND: Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is a chronic inflammatory disease of the digestive tract with increasing prevalence globally. Although venous thromboembolism (VTE) is a major complication in IBD patients, it is often underappreciated with limited tools for risk stratification. AIM: To estimate the proportion of VTE among IBD patients and assess genetic risk factors (monogenic and polygenic) for VTE...
October 21, 2023: World Journal of Gastroenterology: WJG
https://read.qxmd.com/read/37879345/erratum-laboratory-diagnosis-of-activated-protein-c-resistance-and-factor-v-leiden
#32
JOURNAL ARTICLE
Mehran Bahraini, Alieh Fazeli, Akbar Dorgalaleh
No abstract text is available yet for this article.
October 25, 2023: Seminars in Thrombosis and Hemostasis
https://read.qxmd.com/read/37810217/factor-v-leiden-estrogen-and-multimorbidity-association-with-venous-thromboembolism-in-a-british-south-asian-cohort
#33
JOURNAL ARTICLE
Emma F Magavern, Damian Smedley, Mark J Caulfield
Multimorbidity, estrogen use, and Factor V Leiden (FVL) are known independent risk factors for venous thromboembolism (VTE). This cross-sectional analysis of women in the Genes & Health British-South Asian cohort (N 20,048) linked the F5 SNP rs6025 with estrogen prescribing data and VTE events. Multivariable logistic regression was used to test the association between estrogen use, FVL, common medical co-morbidities, and VTE. Estrogens were prescribed to 30% of women. 3% of participants were FVL carriers...
October 20, 2023: IScience
https://read.qxmd.com/read/37809238/the-combined-heterozygosity-of-factor-v-leiden-and-g20210a-prothrombin-gene-mutation-in-a-patient-with-venous-thromboembolism
#34
Marcia Machado, Marta Cunha, Filipe Gonçalves, Carlos Fernandes, Jorge Cotter
Venous thromboembolism (VTE) is a chronic illness that includes pulmonary embolism (PE) and deep vein thrombosis (DVT), and many risk factors are associated. Anticoagulation therapy remains the cornerstone of venous thromboembolism management, and the duration of anticoagulation depends on the risk of venous thromboembolism. We report a case of a female with a combined heterozygosity of factor V Leiden and G20210A prothrombin gene mutation.
September 2023: Curēus
https://read.qxmd.com/read/37790840/inferior-vena-cava-thrombosis-in-a-patient-with-factor-v-leiden-syndrome-presenting-with-scrotal-pain
#35
Helmy Elhag, Fadl Al-Tairy, Mohammed Shakeeb Dahdaha, Ahmed Shaeshaa, Yavuz Yigit
Thrombosis in the inferior vena cava (IVC) is a rare but serious condition that can lead to significant morbidity and mortality. We present a case report of a 39-year-old male who presented to the emergency department with right flank pain that had progressed to severe back pain, bilateral flank pain, scrotal pain, and leg pain over the course of two days. The pain was severe enough to affect his daily activities. Laboratory investigations revealed a D-dimer level of 17 ng/mL, creatinine level of 110  µ mol/L, and a white blood cell count of 10 × 109 /L with a CRP level of 5 mg/L...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37776157/sexual-dysfunction-in-women-with-pcos-a-case-control-study
#36
JOURNAL ARTICLE
H Pastoor, S Both, E T M Laan, J S E Laven
STUDY QUESTION: What is the relationship of sex steroid levels with sexual function in women with and without polycystic ovary syndrome (PCOS)? SUMMARY ANSWER: Women with PCOS reported more sexual dysfunction and more sexual distress compared to those without PCOS, but only few and weak associations between androgen levels and sexual function were observed. WHAT IS KNOWN ALREADY: The literature shows that women with PCOS report lower levels of sexual function and sexual satisfactionand more sexual distress...
September 29, 2023: Human Reproduction
https://read.qxmd.com/read/37756208/evaluation-of-acquired-and-hereditary-risk-factors-for-the-development-of-thromboembolism-in-patients-with-systemic-lupus-erythematosus
#37
JOURNAL ARTICLE
Vildan Gürsoy, Sevil Sadri, Selime Ermurat
Although the contribution of antiphospholipid antibodies (aPL) to thrombolembolism in systemic lupus erythematosus (SLE) is well known, there is not enough data on the contribution of various hereditary thrombophilic factors. In this study, we aimed to determine acquired and hereditary thrombophilic factors in adult patients with SLE. A total of 93 SLE patients (87 women and 6 men) were included. Data on clinical, demographic and laboratory characteristics, and disease activity scores (SLEDAI) of the patients were evaluated...
December 1, 2023: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://read.qxmd.com/read/37734636/the-risk-of-venous-thromboembolism-in-oral-contraceptive-users-the-role-of-genetic-factors-a-prospective-cohort-study-of-240-000-women-in-the-uk-biobank
#38
JOURNAL ARTICLE
Valeria Lo Faro, Therese Johansson, Åsa Johansson
BACKGROUND: More than 150 million women worldwide use oral contraceptives. Women with inherited thrombophilia and carriers of certain thrombophilia gene variants, such as factor V Leiden and the prothrombin, are at an increased risk for venous thromboembolism, especially when combined with oral contraceptive use. Venous thromboembolism is a complex disorder involving many genetic risk factors, and recently, polygenic risk scores have been proposed to capture a significant proportion of the genetic risk of venous thromboembolism...
September 19, 2023: American Journal of Obstetrics and Gynecology
https://read.qxmd.com/read/37732886/bilateral-ischemic-stroke-in-a-37-year-old-patient-with-factor-v-leiden-mutation-and-arrhythmogenic-right-ventricular-dysplasia
#39
JOURNAL ARTICLE
Maryla Kuczyńska, Monika Zbroja, Katarzyna Drelich, Olga Pustelniak, Mariusz Kozak, Edyta Opalińska
No abstract text is available yet for this article.
October 26, 2023: Polish Archives of Internal Medicine
https://read.qxmd.com/read/37693264/budd-chiari-syndrome-with-portal-vein-thrombosis-managed-successfully-with-direct-intrahepatic-portosystemic-shunt-a-case-report-and-review-of-the-literature
#40
Sayan Malakar, Akash Mathur, Ayushi Agarwal, Piyush Mishra, Vivek V Shirol, Rajanikant R Yadav, Uday C Ghoshal
Budd -Chiari syndrome (BCS) is a hepatic vascular disorder which affects hepatic veins or inferior vena cava. Portal vein thrombosis (PVT) occurs in around 15%-25% of patients with BCS. The presence of PVT in patients with BCS makes it more difficult to intervene radiologically. We present a case of a BCS-related chronic liver disease that presented with a history of variceal upper gastrointestinal bleeding and worsening ascites. The patient had thrombosed hepatic veins (HV) and partial right portal vein thrombosis...
2023: Journal of Clinical and Experimental Hepatology
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