A5052664287- Hemophilia Treatment and Research
- Blood Coagulation and Thrombosis Mechanisms
- Platelet Disorders and Treatments
- Blood properties and coagulation
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Hemostasis and retained surgical items
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related gene regulation
- Venous Thromboembolism Diagnosis and Management
- Zebrafish Biomedical Research Applications
- Cerebral Venous Sinus Thrombosis
- Protease and Inhibitor Mechanisms
- Autoimmune Bullous Skin Diseases
- Mast cells and histamine
- Vitamin K Research Studies
- Hemoglobinopathies and Related Disorders
- Blood groups and transfusion
- Connexins and lens biology
- Vestibular and auditory disorders
- Antiplatelet Therapy and Cardiovascular Diseases
- Intracerebral and Subarachnoid Hemorrhage Research
- Chronic Myeloid Leukemia Treatments
- Genomics and Rare Diseases
- Uterine Myomas and Treatments
- Cardiovascular Issues in Pregnancy
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2019
Ospedale Maggiore
2005-2019
University of Milan
2006-2017
Luigi Einaudi Foundation
2017
Iran University of Medical Sciences
2016
Zahedan University of Medical Sciences
2016
Center for Children
2016
October 6 University
2016
Tarbiat Modares University
2016
We investigated the association between 9 polymorphisms of genes encoding hemostasis factors and myocardial infarction in a large sample young patients chosen because they have less coronary atherosclerosis than older patients, thus their disease is more likely to be related genetic predisposition prothrombotic state.This nationwide case-control study involved 1210 who had survived first at an age <45 years underwent arteriography 125 care units healthy subjects matched for age, sex,...
Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, genetic features were investigated retrospective data from the PRO-RBDD. Patients classified asymptomatic grade 3 based on their severity. In addition, FGG sequenced find causative variants. A total of 166 cases 16 countries...
Background Ultra-rare inherited bleeding disorders (BDs) present important challenges for generating a strong evidence foundation optimal diagnosis and management. Without disorder-appropriate treatment, affected individuals potentially face life-threatening bleeding, delayed diagnosis, suboptimal management of invasive procedures, psychosocial distress, pain, decreased quality-of-life.Research design methods The National Hemophilia Foundation (NHF) the American Thrombosis Hemostasis Network...
Summary. Factor X (FX) deficiency is a rare autosomal recessive disorder. The phenotype and genotype of 15 Iranian patients with FX from 13 unrelated families high frequency consanguinity were analysed. Five different assays identified four three discrepancy between low‐FX coagulant activity (FX:C) higher‐FX antigen (FX:Ag) (a type II deficiency). remaining 11 had parallel reductions FX:C FX:Ag I Nine homozygous candidate mutations identified, which eight novel. cases associated an...
Factor X deficiency is a severe rare hemorrhagic condition inherited as an autosomal recessive trait. It one of the most coagulation disorders. We analyzed clinical manifestations, laboratory phenotype and genotype in 10 patients with their heterozygous relatives. The frequent bleeding episodes were hematomas (70%) gum (60%). Fifty percent homozygous required blood transfusion one-third heterozygotes treatment after surgery or delivery. genetic characterization revealed six different...
Summary Fibrinogen is a plasma glycoprotein mainly synthesised by hepatocytes and circulating as 340-kDa hexamer consisting of two sets three different polypeptide chains (Aα, Bβ, γ, encoded the FGA, FGB, FGG gene, respectively). Congenital afibrinogenaemia hypofibrinogenaemia are rare bleeding disorders characterised abnormally low levels functional immunoreactive fibrinogen in plasma, associated with haemorrhagic manifestations variable severity. While caused mutations homozygous or...
Summary. We aimed to evaluate the effect of regular prophylaxis with a Factor X (FX) concentrate for patients severe FXD in Iran and assess correlation genotype phenotype these patients. Ten (FX activity <1%) were enrolled characterized during 2010–2011. Prophylaxis 20 IU FX P Behring per kg body weight was administered once week. levels, monitored at baseline, 15 30 min, 1, 3, 6, 12, 24, 48, 72 96 h after starting prophylaxis. All followed 1 year. The mean age ± 7.8 years (age range of:...
Abstract Background Next-generation DNA sequencing is opening new avenues for genetic association studies in common diseases that, like deep vein thrombosis (DVT), have a strong predisposition still largely unexplained by currently identified risk variants. In order to develop and analytical pipelines the application of next-generation complex diseases, we conducted pilot study coding area 186 hemostatic/proinflammatory genes 10 Italian cases idiopathic DVT 12 healthy controls. Results A...
Abstract In humans, coagulation factor V (FV) deficiency is a rare, clinically heterogeneous bleeding disorder, suggesting that genetic modifiers may contribute to disease expressivity. Zebrafish possess many distinct advantages including high fecundity, optical clarity, external development, and homology with the mammalian hemostatic system, features make it ideal for studies. Our aim was study role of FV in zebrafish through targeted mutagenesis apply model human F5 variants....
Factor XIII (FXIII) deficiency is a very rare severe autosomal bleeding disorder with frequency of 1:2,000,000 in the general population and only few patients have been genetically characterized so far. We report phenotype-genotype characterization 10 unrelated Iranian patients. Two FXIII (transglutaminase) activity assays showed no activity, except conserved residual receiving prophylactic substitution treatment. antigen concentrations measured by two immunoassays were comparable. Genotype...