keyword
https://read.qxmd.com/read/38534884/factor-vii-deficiency-in-systemic-mastocytosis-with-an-associated-myeloid-neoplasm
#1
Giorgio Rosati, Sofia Camerlo, Alessandro Fornari, Valerio Marci, Barbara Montaruli, Alessandro Morotti
Factor VII (FVII) deficiency is a rare bleeding disorder that can be classified as congenital or acquired, and the majority of acquired cases are due to vitamin K deficiency or liver disease. Isolated acquired FVII deficiency is a rare occurrence and has been associated with inhibitors or auto-antibodies. Here, we describe a patient with polycythemia vera who developed systemic mastocytosis and FVII deficiency simultaneously. FVII deficiency was not caused by inhibitors and improved with antineoplastic treatment...
March 12, 2024: Hematology Reports
https://read.qxmd.com/read/38507239/use-of-crushed-tranexamic-acid-tablets-in-water-for-paediatric-patients-with-bleeding-disorders
#2
JOURNAL ARTICLE
Ahmad Al-Huniti, Linda Marshall, Dawn Rusk, Rajiv K Pruthi, Vilmarie Rodriguez, Asmaa Ferdjallah, Alexis Kuhn
BACKGROUND: Ε-Aminocaproic acid oral solution (EACA OS) is the only commercially available antifibrinolytic for patients who cannot swallow tablets. Insurance denials and high costs remain barriers to its use. OBJECTIVES: To determine the safety and efficacy of crushed tranexamic acid tablets in water (cTXAw) for children with bleeding disorders. METHODS: We retrospectively reviewed records of children (<10 years) with bleeding disorders who received cTXAw or EACA OS from 1 December 2018, through 31 July 2022, at Mayo Clinic (Rochester, Minnesota)...
March 20, 2024: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://read.qxmd.com/read/38447534/the-identification-of-a-novel-compound-heterozygous-mutation-in-hereditary-human-coagulation-factor-vii-deficiency-following-a-bamboo-leaf-green-snake-bite
#3
JOURNAL ARTICLE
Chuanghua Qiu, Chunxiu Huang, Xueyan Chen, Dayong Gu
Hereditary factor VII (FVII) deficiency is an uncommon autosomal recessive disorder associated with mutations in the F7 gene, and laboratory investigations usually reveal isolated prolongation in prothrombin time (PT)/international normalized ratio (INR). Venom-induced consumptive coagulopathy (VICC) is distinguished by the activation of the coagulation pathway, which is triggered by procoagulant toxins in snake venom. Diagnosing snakebites in patients with hereditary FVII deficiency presents a challenge because prolonged time PT/INR is considered the most valuable diagnostic method for VICC...
March 6, 2024: Laboratory Medicine
https://read.qxmd.com/read/38397060/genetic-landscape-of-factor-vii-deficiency-insights-from-a-comprehensive-analysis-of-pathogenic-variants-and-their-impact-on-coagulation-activity
#4
JOURNAL ARTICLE
Barbara Preisler, Behnaz Pezeshkpoor, Anja Merzenich, Sandra Ohlenforst, Heiko Rühl, Vytautas Ivaškevičius, Ute Scholz, Hagen Bönigk, Wolfgang Eberl, Barbara Zieger, Anna Pavlova, Johannes Oldenburg
Congenital factor VII (FVII) deficiency is a rare genetic bleeding disorder characterized by deficient or reduced activity of coagulation FVII. It is caused by genetic variants in the F7 gene. We aimed to evaluate the rate of detection of pathogenic variants in the F7 gene in a large group of patients with FVII deficiency and investigate the correlations between the F7 genotype and FVII activity (FVII:C). Moreover, the influence of the common genetic variant rs6046: c.1238G>A; p.(Arg413Gln), designated as the M2 allele, on FVII:C was investigated...
February 17, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38318153/site-directed-mutagenesis-of-tissue-factor-pathway-inhibitor-binding-exosite-d60a-on-factor-vii-results-in-a-new-factor-vii-variant-with-lower-coagulant-activity
#5
JOURNAL ARTICLE
Karnsasin Seanoon, Vorawat Kitiyanant, Panwajee Payongsri, Nongnuch Sirachainan, Pantep Angchaisuksiri, Ampaiwan Chuansumrit, Suradej Hongeng, Pansakorn Tanratana
BACKGROUND: Recombinant factor (F)VIIa (rFVIIa) has been approved by the US Food and Drug Administration for the treatment of hemophilia A and B with inhibitors and congenital FVII deficiency. Moreover, the investigational uses of rFVIIa are becoming of interest since it can be used to treat various clinical bleeding conditions. However, there is evidence showing that rFVIIa is a potent procoagulant agent that potentially leads to an increased risk of thrombotic complications. OBJECTIVES: To design a new rFVII with lower coagulant activity that could potentially be used as an alternative hemostatic agent aiming to minimize the risk of thrombogenicity...
January 2024: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/38206721/acquired-isolated-factor-vii-deficiency-in-a-patient-with-myxoid-pleomorphic-liposarcoma-case-report
#6
JOURNAL ARTICLE
Mansour Aljabry, Manar Aleid, Shahad Almutairi, Reema AlSerhani, Shahad Alsahil, Ghazi Alotaibi
INTRODUCTION: Acquired factor VII (FVII) deficiency is a rare condition with various causes, including acquired inhibitors to FVII, liver disease, and malignancies. Myxoid pleomorphic liposarcoma is a rare and aggressive form of soft tissue sarcoma that can cause a range of clinical manifestations, including bleeding and clotting disorders. PATIENT CONCERNS AND DIAGNOSIS: We present a case report of a 21-year-old man with severe acquired FVII deficiency due to mediastinal myxoid pleomorphic liposarcoma...
December 29, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/38202056/genotype-phenotype-relationship-among-785-unrelated-white-women-with-inherited-congenital-factor-vii-deficiency-a-three-center-database-study
#7
JOURNAL ARTICLE
Susan Halimeh, Lydia Koch, Gili Kenet, Piotr Kuta, Tess Rahmfeld, Monika Stoll, Ulrike Nowak-Göttl
BACKGROUND: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and assess their associations with the clinical phenotype in a substantial cohort comprising 785 white women exhibiting FVII:C levels below the age-dependent cut-off percentage. PATIENTS AND METHODS: Individuals with verified inherited factor VII deficiency underwent i) genotyping using the Sanger method and multiplex ligation-dependent probe amplification (MLPA) to identify F7 mutations, including common polymorphic variants...
December 21, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/38182138/analysis-of-coagulation-characteristics-of-portal-venous-blood-in-patients-with-decompensated-cirrhotic-portal-hypertension
#8
JOURNAL ARTICLE
Xiaomao Chen, Xu Chen
OBJECTIVE: Coagulopathy is a common complication in patients with decompensated cirrhotic portal hypertension (DCPH), presenting a significant clinical challenge. Nonetheless, there is limited understanding of the coagulation profile of portal venous blood in DCPH patients. The objective of this study was to evaluate the coagulation characteristics of portal venous blood in DCPH patients by collecting blood samples through a transjugular intrahepatic portosystemic shunt (TIPS). METHODS: A total of 48 DCPH patients were enrolled to measure the activities of pro- and anticoagulant factors in both portal and peripheral venous blood...
November 2023: Annals of Clinical and Laboratory Science
https://read.qxmd.com/read/38128853/no-detectable-coagulation-activation-after-vitamin-k-mk-7-supplementation-in-patients-on-dialysis-with-functional-vitamin-k-deficiency-a-one-year-randomized-placebo-controlled-study
#9
JOURNAL ARTICLE
Else-Marie Bladbjerg, Karin Levy-Schousboe, Marie Frimodt-Møller, Krista D Kjærgaard, Charlotte Strandhave, Claus L Brasen, Niels Erik Frandsen, Ditte Hansen, Peter Marckmann
OBJECTIVE: Patients on dialysis treatment have poor functional vitamin K status, and this may increase the risk of vascular calcification. Vitamin K supplementation may therefore be relevant in patients on dialysis, but the procoagulant effects have not been studied. We evaluated effects of menaquinone-7 (MK-7) supplementation on biomarkers of coagulation in patients on dialysis. DESIGN AND METHODS: Double-blinded, placebo-controlled study in 123 patients on dialysis randomized to 52 weeks of vitamin K (MK-7, 360 μg/daily, n=61) or placebo (n=62)...
December 19, 2023: Journal of Renal Nutrition
https://read.qxmd.com/read/38101192/the-effect-of-factor-xia-on-thrombin-and-plasmin-generation-clot-formation-lysis-and-density-in-coagulation-factors-deficiencies
#10
JOURNAL ARTICLE
Ivan D Tarandovskiy, Mikhail V Ovanesov
INTRODUCTION: Growing evidence supports the importance of factor (F) XI activation for thrombosis and hemostasis as well as inflammation and complement systems. In this study, we evaluated the effect of activated FXI (FXIa) on the detection of factor deficiencies by global hemostasis assays of thrombin generation (TG), plasmin generation (PG), and clot formation and lysis (CFL). MATERIALS AND METHODS: An absorbance and fluorescence microplate assay was used to simultaneously observe TG, PG, and CFL in FV-, FVII-, FVIII-, and FIX-deficient plasmas supplemented with purified factors...
November 23, 2023: Thrombosis Research
https://read.qxmd.com/read/38096370/nucleic-acid-sensing-promotes-inflammatory-monocyte-migration-through-biased-coagulation-factor-viia-signaling
#11
JOURNAL ARTICLE
Hortensia Zelaya, Kristin Grunz, Thanh Son Nguyen, Anxhela Habibi, Claudius Leon Witzler, Sabine Reyda, Irene Gonzalez-Menendez, Leticia Quintanilla-Martinez, Markus Bosmann, Hartmut Weiler, Wolfram Ruf
Protease activated receptors (PARs) are cleaved by coagulation proteases and thereby connect hemostasis with innate immune responses. Signaling of the tissue factor (TF) complex with FVIIa via PAR2 stimulates extracellular signal-regulated kinase (ERK) activation and cancer cell migration, but functions of cell autonomous TF-FVIIa signaling in immune cells are unknown. Here we show that myeloid cell expression of FVII but not of FX is crucial for inflammatory cell recruitment to the alveolar space after challenge with the double stranded viral RNA mimic Poly(I:C)...
December 14, 2023: Blood
https://read.qxmd.com/read/37993374/acquired-factor-vii-deficiency-in-pediatric-inflammatory-bowel-disease-report-of-three-cases
#12
Sevim Çakar, Gülin Eren, Tuba Hilkay Karapınar, Çiğdem Ömür Ecevıt, Özlem Bekem
Bleeding disorders can exacerbate gastrointestinal bleeding in inflammatory bowel disease (IBD) at the time of diagnosis or flares. Factor VII (FVII) deficiency is a life-threatening rare congenital bleeding disorder in childhood. This study describes three adolescent patients with IBD accompanied by acquired FVII deficiency. This is the first case series of patients with IBD accompanied by FVII deficiency. We hypothesized that inflammation, accelerated consumption, disease severity, and weight loss can cause decreased FVII activity in patients diagnosed with IBD...
November 21, 2023: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://read.qxmd.com/read/37919949/acquired-factor-vii-deficiency-associated-with-chronic-myeloid-leukemia-blast-crisis
#13
JOURNAL ARTICLE
Emily B Wolf, David Li, Andre J Fernandez, Lindsay B Gardner, Candido E Rivera, Ewa M Wysokinska, Marwan E Shaikh, Han W Tun, Vivek Roy, Muhamad Alhaj Moustafa
Factor VII (FVII) is an important, vitamin K-dependent clotting factor. Acquired FVII deficiency is a rare entity that is associated with serious bleeding complications. We report a case of acquired FVII deficiency in a patient with recurrent chronic myeloid leukemia in blast crisis who developed bilateral retinal hemorrhages. The coagulopathy was corrected with the initiation of chemotherapy and subsequent reduction in peripheral blast count.
2023: Journal of Investigative Medicine High Impact Case Reports
https://read.qxmd.com/read/37906967/the-rare-case-of-double-valve-surgery-in-a-patient-with-factor-vii-deficiency
#14
JOURNAL ARTICLE
Friederike I Schoettler, Ali Fatehi Hassanabad, Michael H Chiu, Andre Ferland, Corey Adams
Performing cardiac surgery on patients with bleeding diatheses poses significant challenges since these patients are at an increased risk for complications secondary to excessive bleeding. Despite its rarity, patients with factor VII (FVII) deficiency may require invasive procedures such as cardiac surgery. However, we lack guidelines on their pre-, peri-, and post-operative management. As FVII deficiency is rare, it seems unlikely to design and learn from large clinical studies. Instead, we need to base our clinical decision-making on single reported cases and registry data...
October 31, 2023: Perfusion
https://read.qxmd.com/read/37867585/surgery-in-rare-bleeding-disorders-the-prospective-marachi-study
#15
JOURNAL ARTICLE
Florence Rousseau, Benoit Guillet, Thibault Mura, Alexandra Fournel, Fabienne Volot, Hervé Chambost, Pierre Suchon, Brigit Frotscher, Christine Biron-Andréani, Raphaël Marlu, Nathalie Hezard, Ségolène Clayssens, Elodie Boissier, Florence Blanc-Jouvan, Pierre Chamouni, Nathalie Tieulie, Lucia Rugeri, Annie Borel-Derlon, Emmanuelle de Raucourt, Isabelle Martin-Toutain, Sabine Castet, Aurélien Lebreton, Stéphane Girault, Dominique Helley-Russick, Roseline D'Oiron, Jean-François Schved, Muriel Giansily-Blaizot
BACKGROUND: Despite the wide use of bleeding scores and the reliability of clotting factor level measurement, bleeding risk stratification before surgery remains challenging in patients with rare inherited bleeding disorders. OBJECTIVES: This multicenter observational prospective study assessed in patients with rare coagulation factor deficiency, the perioperative hemostatic management choices by hemostasis experts and the bleeding outcomes after surgery. METHODS: One hundred seventy-eight patients with low coagulation activity level (factor [F] II, FV, combined FV-FVIII, FVII, FX, or FXI <50%) underwent 207 surgical procedures...
October 2023: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/37842794/five-new-f10-variants-in-hereditary-factor-x-deficiency-detected-by-high-throughput-sequencing
#16
JOURNAL ARTICLE
Cédric Pastoret, Clémentine Wahl, Sabine Castet, Fabienne Nedelec, Adeline Pontis, Sophie Bayart, Thierry Fest, Benoît Guillet
INTRODUCTION: Factor X deficiency is a rare inherited bleeding disorder. To date, 181 variants are reported in the recently updated F10-gene variant database. AIM: This study aimed to describe new F10 variants. METHOD: The F10 gene was analysed in 16 consecutive families with FX deficiency by a targeted high-throughput sequencing approach, including F10, F9, F8 genes, and 78 genes dedicated to haematological malignancies. RESULTS: We identified 19 variants (17 missense, one nonsense and one frameshift) and two copy number variations...
October 16, 2023: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://read.qxmd.com/read/37762778/acquired-isolated-factor-vii-deficiency-in-plasma-cell-dyscrasias-a-brief-presentation-of-two-plasma-cell-leukemia-related-cases-and-review-of-literature
#17
REVIEW
Anna Furlan, Francesca Sartori, Filippo Gherlinzoni
Acquired isolated factor VII (FVII) deficiency is a rare but important discovery in patients with plasma cell disorders with significant therapeutic and prognostic implications. The present analysis and review of cases reported in the literature is intended to highlight disease-related characteristics associated with this rare clotting defect, clinical manifestations and outcome, and potential underlying mechanisms, and to provide guidance on how to manage these patients in terms of prophylactic and therapeutic measures...
September 8, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37761907/molecular-genetic-analysis-of-russian-patients-with-coagulation-factor-fvii-deficiency
#18
JOURNAL ARTICLE
Olesya Pshenichnikova, Daria Selivanova, Ekaterina Shchemeleva, Tatiana Abramova, Nadezhda Zozulya, Vadim Surin
Coagulation factor VII (proconvertin) is one of the proteins starting the blood coagulation cascade. Plasma FVII concentration is regulated by different factors. A low level of FVII could also be a result of FVII deficiency (MIM# 227500), the rare autosomal recessive inherited disease caused by pathogenic variants in the F7 gene. The aim of this study was to describe a mutation spectrum of the F7 gene and genotype-phenotype relationship in patients with FVII deficiency in Russia for the first time. We studied the primary structure of the F7 gene of 54 unrelated patients with FVII deficiency by direct Sanger sequencing...
September 6, 2023: Genes
https://read.qxmd.com/read/37521340/utility-of-acmg-classification-to-support-interpretation-of-molecular-genetic-test-results-in-patients-with-factor-vii-deficiency
#19
JOURNAL ARTICLE
Rosa Sonja Alesci, Carola Hecking, Benjamin Racké, Detlev Janssen, Carl-Erik Dempfle
BACKGROUND: The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have introduced an internationally shared framework for variant classification in genetic disorders. FVII deficiency is a rare inherited autosomal recessive bleeding disorder with sparse data concerning ACMG classification. METHODS: To develop an approach which may improve the utility of molecular genetic test results, 129 patients with FVII deficiency were retrospectively assigned to six subgroups for exploratory analysis: F7 gene wildtype (group 1) , ACMG 1 (benign variant) or ACMG 2 (likely benign variant), only (group 2) , ACMG 3 (variant of uncertain significance) ± ACMG 1-2 heterozygous or not classified variant (group 3) , ACMG 4 (likely pathogenic variant), or ACMG 5 (pathogenic variant) single heterozygous ± ACMG 1-3 single heterozygous (group 4) , ACMG 4-5 homozygous or ≥2 ACMG 4-5 heterozygous or ≥1 ACMG 4-5 heterozygous plus either ACMG 1 c...
2023: Frontiers in Medicine
https://read.qxmd.com/read/37515677/hemophilia-patients-are-they-naturally-anticoagulated
#20
MULTICENTER STUDY
Armando Tripodi, Pier Mannuccio Mannucci, Flora Peyvandi
Hemophilia is an X-linked bleeding disorder, characterized by low plasma levels of coagulation factor VIII (FVIII) (hemophilia A) or FIX (hemophilia B). Because of this, hemophilia patients (HP) were considered as naturally-anticoagulated and therefore protected from thrombosis. Over the last decades hemophilia care underwent striking changes by the introduction of prophylaxis with repeated injections of standard or modified coagulation factor products that maintain steady-state trough levels of the deficient factor...
August 2023: Internal and Emergency Medicine
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