The common, VTE-protective, G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding.

The G haplotype is a group of co-inherited single nucleotide variants in the F5 gene that reduce venous thromboembolism (VTE) risk. Even though seven percent of the population is homozygous for the G haplotype (F5-G/G), the underlying mechanism of VTE protection is poorly understood. Using RNA-seq data from 4,651 blood donors in the INTERVAL study we detected a rare excision event at the FV-short splice sites in 5% of F5-G/Gs as compared with 2.

Value of Factor V in the diagnosis of early graft dysfunction after liver transplantation: Internal validation.

Primary graft dysfunction is a major early complication following liver transplantation, potentially leading to retransplantation or patient death. Coagulation Factor V (FV) and ALT have emerged as important biomarkers in assessing liver function, yet their role as early predictors of graft loss has not been fully validated. The aim of this study is to conduct an internal validation of published results on the applicability of FV and ALT for diagnosing graft dysfunction and its predictive ability for graft loss within the first 90 days.

Assessment of the clinical and laboratory risk factors for thrombosis in neonates admitted to neonatal intensive care unit (two Egyptian tertiary centers experience).

In neonates admitted to the neonatal intensive care unit (NICU), arterial and venous thromboembolism is a major cause of morbidity and death which could be attributed to multiple risk factors exposure. This study aimed to evaluate the clinical characteristics, laboratory and radiological assessments, predisposing risk factors, and outcomes of thrombosis in neonates admitted to NICU. This prospective cohort study was conducted at NICU, Minia, and Alexandria University Children's Hospital.

Clinical characteristics and thrombophilia associated gene variants in Egyptians with unprovoked venous thromboembolism: three centers experience.

Background: Thrombophilias are characterized by excessive venous and arterial thrombosis at regular or unusual sites. It may result from inherited, acquired, or a combination. Hereditary thrombophilia (HT) is detected in 30-40% of patients with thromboembolism.

Milk fat globule EGF and factor V/VIII domain containing-mediated osteoimmunology in periodontal disease.

Purpose: To review the literature on the relationship of milk fat globule EGF and factor V/VIII domain containing (MFGE8) in periodontal osteoimmunology and the clinical significance of MFGE8 in periodontal disease.

Methods: Two reviewers carried out a computer-based literature search using PubMed, Scopus, and Web of Science to identify papers published up to November 2023. The keywords used in the investigation were "MFGE8" and various words related to periodontal disease (periodontal, periodontitis, gingival, gingivitis, gingiva, and periodontium).

Management of Tubo-Ovarian Abscess in a Patient With Factor V Leiden Deficiency and High Body Mass Index (BMI).

This case report details the clinical course, diagnostic challenges, and management of a 53-year-old female patient with a history of factor V Leiden deficiency, hypertension, and high body mass index (BMI), presenting with an acute tubo-ovarian abscess (TOA). The patient's medical history also included penicillin allergy, premenopausal bleeding, and two previous cesarean sections, adding complexity to her management. Upon presentation, the patient exhibited symptoms of TOA, a severe complication of pelvic inflammatory disease (PID).

Can prothrombotic gene variants and Apoa1 rs5069 polymorphism be the predictors of early myocardial infarctions?

Background/aim: We aimed to determine the genetic risk factors in patients aged 45 years and below with a history of early myocardial infarction (MI), compared to individuals over 60 years of age with no history of MI.

Materials And Methods: In this study, we selected different age groups to more clearly distinguish genetic differences. Accordingly, we compared individuals who had experienced MI at an early age with those who were older and had not experienced any cardiovascular events.

A Rare Case of Left Ventricular Thrombus in a Normal Heart in a Patient With Factor V Leiden Disease.

Left ventricular thrombus (LVT) is mostly associated with anterior wall myocardial infarction and reduced ejection fraction. It can also be associated with cardiomyopathy, myocarditis, and hypercoagulable states such as cancer, antiphospholipid syndrome, and protein C or protein S deficiency. Factor V Leiden (FVL) disease is one of the hypercoagulable states where mutant factor V is insensitive to natural anticoagulation factor protein C, and FVL disease increases the risk of peripheral thromboembolism such as pulmonary embolism (PE) and deep vein thrombosis (DVT).

Hemophilia and Other Congenital Coagulopathies in Women.

Deficiencies of factor VIII (FVIII)/von Willebrand factor (VWF) or factor IX (FIX) are underappreciated as potential reasons for heavy menstrual bleeding, recurrent nosebleeds, and easy bruising in girls and women. Bleeding is usually not attributed to hemophilia because clinically significant deficiencies in clotting factors VIII and IX are thought to only affect males. While severe hemophilia is more commonly observed in boys and men, women with mutations in the FVIII or FIX genes ( or may have widespread bruising and even joint bleeding.

Impact of thrombophilia on venous thromboembolism management.

Hypercoagulable states, also called thrombophilia, can either be congenital or acquired. Congenital thrombophilia, associated mainly with venous thrombosis, is either secondary to coagulation-inhibitor deficiencies, i.e.

Development of an assay using a modified coagulation factor V to measure protein S activity.

Background: Protein S (PS) is an anticoagulant that functions as a cofactor for activated protein C and the tissue factor pathway inhibitor. PS deficiency is a risk factor for venous thromboembolism. PS activity is commonly measured using clot-based assays involving fibrin and thrombin production, but improvements are needed.

Photothermal enhanced antibacterial chitosan-based polydopamine composite hydrogel for hemostasis and burn wound repairing.

Bleeding and bacterial infection are common problems associated with wound treatment, while effective blood clotting and vessel regeneration promotion are the primary considerations to design the wound dressing materials. This research presents a chitosan-based hydrogel with grafted quaternary ammonium and polyphosphate (QCSP hydrogel) as the antibacterial hemostatic dressing to achieve burn wound treatment. The tissue adhesion of the hydrogel sealed the blood flow and the polyphosphate grafted to the chitosan promoted the activation of coagulation factor V to enhance the hemostasis.

RNAi targeting LMAN1-MCFD2 complex promotes anticoagulation in mice.

Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) is a rare bleeding disease caused by variants in either lectin mannose binding 1 (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) gene. Reducing the level of FVIII by inhibiting the LMAN1-MCFD2 complex may become a new anticoagulant approach. We aimed to find a new therapeutic option for anticoagulation by RNA interference (RNAi) targeting LMAN1 and MCFD2.

[Method comparison between two hemostasis analyzers: STA R Max and Cobas t 511].

The STA R Max3 (Stago, France) and Cobas t511 (Roche Diagnostics, Germany) are two automated hemostasis analysers that can be used to perform a wide range of tests. The STA R Max3 uses a mechanical clot detection system to measure coagulation times, while the Cobas t511 uses optical detection. The aim of this study was to compare the analytical performance of these two analysers using fresh plasma samples with or without a risk of interference due to hemolysis or lipemia.

Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.

Congenital combined deficiency of factor V (FV) and factor VIII (FVIII; F5F8D, OMIM 227300) is a rare hereditary coagulopathy and accounts for approximately 3% of cases of rare coagulation disorders. The prevalence of this disease in the general population is estimated to be 1:1,000,000 and is significantly higher in regions where consanguineous marriages are permitted, such as the Mideast and South Asia. The disease has an autosomal recessive mode of inheritance and therefore occurs with an equal incidence among males and females.

Pharmacogenetics of Toxicities Related to Endocrine Treatment in Breast Cancer: A Systematic Review and Meta-analysis.

Background/aim: Endocrine therapy is the standard treatment for hormone receptor-positive (HR+) breast cancer (BC). Yet, it is accompanied by treatment-related toxicities, leading to poor treatment adherence, high relapse, and low rates of survival. While pharmacogenomic variants have the potential to guide personalized treatment, their predictive value is inconsistent across published studies.

Clinical, Laboratory, and Molecular Aspects of Factor V Deficiency.

Factor V (FV) is a glycoprotein that plays a pivotal role in hemostasis, being involved in coagulant and anticoagulant pathways. Congenital FV deficiency is a rare bleeding disorder with an incidence of 1 per million live births, considering the most severe homozygous form. FV deficiency is diagnosed using routine coagulation tests and FV activity assays.

Are all primary omental infarcts truly idiopathic? Five case reports.

Background: Idiopathic omental infarction (IOI) is challenging to diagnose due to its low incidence and vague symptoms. Its differential diagnosis also poses difficulties because it can mimic many intra-abdominal organ pathologies. Although hypercoagulability and thrombosis are among the causes of omental infarction, venous thromboembolism scanning is rarely performed as an etiological investigation.