Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.

Congenital fibrinogen disorders (CFD) are characterized by heterogeneous manifestations, from asymptomatic to severe bleeding or thrombosis, associated with genetic mutations in FGA, FGB, or FGG genes. As a result, diagnosis is challenging, particularly in low- and middle-income countries, where evidence is scarce. The aim of this review is to describe the distribution of CFD-associated genetic mutations across different regions of the world and their corresponding phenotypes.

Rapid Maxilla Expansion Technique in Patients With Severe Hemophilia Type A: Treatment Protocol.

Performing major surgical procedures on hemophilia patients is a challenge for dental surgeons. Hemophilia is a hereditary bleeding disorder linked to the X chromosome and can be classified as type A, characterized by changes in coagulation factor VIII, and type B, in factor IX. The objective of this study is to report the authors' experience in the treatment of hemophilia patients undergoing surgically assisted rapid maxillary expansion.

Identification of phenotypes in thrombotic primary antiphospholipid syndrome using cluster analysis: a step toward personalized medicine.

Background: Thrombotic risk in primary antiphospholipid syndrome (APS) is a result of complex, yet undefined, interactions among multiple factors. While long-term anticoagulation reduces thrombotic complications, its efficacy varies, with thrombosis recurrence rates ranging from 5% to 20% within 2 years. Emerging therapies may benefit specific APS subgroups, although identifying and stratifying these groups remains a significant challenge.

Clinical and laboratorial characterization of a cohort of patients with hereditary platelet disorders in Brazil.

Introduction: Inherited platelet disorders are rare conditions characterized by altered platelet function and/or reduced platelet counts. Diagnosing these disorders is challenging and may result in delays, misdiagnosis, and inappropriate treatment. In low- and middle-income countries, data are scarce.

Intensive Therapeutic Plasma Exchange-New Approach to Treat and Rescue Patients with Severe Form of Yellow Fever.

Background: Severe yellow fever (YF) can result in acute liver failure (ALF) and high mortality. The role of therapeutic plasma exchange (TPE) in managing YF-ALF remains unclear. This study evaluated the impact of TPE strategies in severe YF.

Persistent hypofibrinolysis in severe COVID-19 associated with elevated fibrinolysis inhibitors activity.

Hypercoagulability and reduced fibrinolysis are well-established complications associated with COVID-19. However, the timelines for the onset and resolution of these complications remain unclear. The aim of this study was to evaluate, in a cohort of COVID-19 patients, changes in coagulation and fibrinolytic activity through ROTEM assay at different time points during the initial 30 days following the onset of symptoms in both mild and severe cases.

Extracellular vesicles are a late marker of inflammation, hypercoagulability and COVID-19 severity.

Exacerbated inflammation and coagulation are a hallmark of COVID-19 severity. Extracellular vesicles (EVs) are intercellular transmitters involved in inflammatory conditions, which are capable of triggering prothrombotic mechanisms. Since the release of EVs is potentially associated with COVID-19-induced coagulopathy, the aim of this study was to evaluate changes in inflammation- and hypercoagulability-related EVs during the first month after symptom onset and to determine whether they are associated with disease severity.

Acquired von willebrand syndrome secondary to monoclonal gammopathy of undetermined significance: long-term remission after treatment with bortezomib.

Monoclonal gammopathy of undetermined significance (MGUS) is a plasma cell disorder that can precede the diagnosis of multiple myeloma. MGUS is characterized by the presence of a monoclonal paraprotein without evidence of multiple myeloma or other lymphoplasmacytic malignancies. Even though MGUS is an asymptomatic condition that does not require management strategies other than periodic follow-up to prevent complications, secondary nonmalignant diseases may arise, requiring control of the plasma cell clone.

Subjective results of joint lavage and viscosupplementation in hemophilic arthropathy.

Objective: To assess whether joint lavage, viscosupplementation and triamcinolone improve joint pain, function and quality of life in patients with severe hemophilic arthropathy.

Methods: Fourteen patients with knee and/or ankle hemophilic arthritis with and without involvement of other joints underwent joint lavage and subsequent injection of hylan G-F20 and triamcinolone in all affected joints. The patients answered algo-functional questionnaires (Lequesne and WOMAC), visual analog scale for pain (VAS) and SF-36 preoperatively, and at one, three, six and twelve months postoperatively.

Viscosupplementation in patients with hemophilic arthropathy.

Objective: To assess whether viscosupplementation with hyaluronic acid in patients with severe hemophilic arthropathy associated with triamcinolone after washing with saline improves joint pain, stiffness, function and quality of life.

Methods: Eleven patients with hemophilic arthritis of the knee with and without involvement of other joints (elbows and ankles) underwent joint lavage with saline and subsequent injection of Hylan and triamcinolone in all affected joints. The patients answered the algo-functional (Lequesne and WOMAC), visual analog scale for pain (VAS) and SF-36 (quality of life) questionnaires preoperatively, and at one and three months postoperatively.