Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance.

Background: Gaucher disease (GD) is a rare autosomal recessive inherited disorder caused by the lysosomal enzyme acid β-glucosidase deficiency. Many patients experience a critical delay in the diagnosis of up to 8-10 years due to its rarity and variability in signs and symptoms, with the consultation of several specialists.

Patients And Methods: This prospective observational study analyzed the prevalence of GD in 600 patients with monoclonal gammopathy of uncertain significance (MGUS) from January 2018 until February 2022.

Effectiveness and Safety of Eliglustat Treatment in Gaucher Disease: Real-life Unicentric Experience.

Purpose: The therapy and management of Gaucher disease (GD) have radically changed with the use of substrate reduction therapy, of which eliglustat is the most widely known drug, allowing it to overcome the limits of enzyme replacement therapy (ERT). The rarity of GD and the limited use of eliglustat outside clinical trials require further study of its strengths and weaknesses.

Methods: In this study, we evaluated the effectiveness and safety of eliglustat in a cohort of 12 patients with GD followed up in our center, reporting a reduction in both chitotriosidase (394.

Acquired hemophilia A following COVID-19 vaccination - The importance of prompt diagnosis: A case report.

Acquired hemophilia A (AHA) is a rare coagulopathy characterized by hemorrhagic manifestations. It has been linked to various conditions, including autoimmune disorders, drugs, tumors, lymphoproliferative disorders, and infections. We present a case of AHA in a 71-year-old male patient with cutaneous hematoma occurring 8 days after vaccination for COVID-19.

Relapse of immune-mediated thrombotic thrombocytopenic purpura following mRNA COVID-19 vaccination: a prospective cohort study.

Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare and life-threatening disease. Vaccination has been reported to be a trigger of onset and relapse of autoimmune diseases. We evaluated after mRNA COVID-19 vaccination 32 adult patients previously diagnosed with iTTP by means of weekly monitoring of complete blood count and ADAMTS13 testing.

Polymeric Nanocapsules Containing Fennel Essential Oil: Their Preparation, Physicochemical Characterization, Stability over Time and in Simulated Gastrointestinal Conditions.

Plant essential oils, a source of biologically active compounds, represent a promising segment in the pharmaceutical market. However, their volatility, hydrophobicity, poor stability, and low toxicity limit direct use in pharmaceutical-related applications. Nanoencapsulation is a technique that allows overcoming these obstacles by improving bioaccessibility and bioavailability.

Analysis of morphological and hemodynamical indexes in abdominal aortic aneurysms as preliminary indicators of intraluminal thrombus deposition.

In this paper, we study the correlation between the wall shear stress, a hemodynamical index derived from numerical simulations, and an new index MFA-ILT for the characterization of intraluminal thrombus (ILT) in the presence of abdominal aortic aneurysms. Based on the processing of medical images, we define our index MFA-ILT by projecting onto lumen surface a measure of the ILT thickness. From the physical point of view, hemodynamical indexes describe the mechanical stimuli at which the luminal surface of the vessel wall is subject to, due to blood flow.

AngioLab--a software tool for morphological analysis and endovascular treatment planning of intracranial aneurysms.

Determining whether and how an intracranial aneurysm should be treated is a tough decision that clinicians face everyday. Emerging computational tools could help clinicians analyze clinical data and make these decisions. AngioLab is a single graphical user interface, developed on top of the open source framework GIMIAS, that integrates some of the latest image analysis and computational modeling tools for intracranial aneurysms.

AngioLab: integrated technology for patient-specific management of intracranial aneurysms.

AngioLab is a software tool developed within the GIMIAS framework and is part of a more ambitious pipeline for the integrated management of cerebral aneurysms. AngioLab currently includes three plug-ins: angio segmentation, angio morphology and stenting, as well as supports advanced rendering techniques for the visualization of virtual angiographies. In December 2009, 23 clinicians completed an evaluation questionnaire about AngioLab.