Jaw bones ’ involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients

ConclusionThinning of cortex, localised rarefaction and generalised rarefaction are the most common jaw bone findings in Gaucher patients.
Source: European Archives of Paediatric Dentistry - Category: Dentistry Source Type: research

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ConclusionsCompared to previous studies, we demonstrate here a higher frequency of PD patients that carry two mutations. The GBA-E326K is more likely to affect PD risk when accompanied by another mutation, and an additive effect on risk and earlier AAO was proposed for carriers of LRRK2/mild-GBA double mutations. Altogether, these data support an oligogenic approach to PD genetics.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 9 October 2019Source: Hematology/Oncology and Stem Cell TherapyAuthor(s): Jorge Monge, Amy Chadburn, Usama GergisAbstractPseudo-Gaucher cells can be found in multiple hematologic malignancies, hemoglobinopathies, infections, and multiple storage disorders upon bone marrow aspirate and biopsy; however, Gaucher disease (GD) should be ruled out, particularly when the cytoplasmic inclusions cannot be adequately characterized. It is well known that GD may be associated with monoclonal gammopathies; however, although enzyme replacement therapy (ERT) may result in an improvement in polyclonal ga...
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
Gaucher disease (GD) is the most common lysosomal storage disorder, the aim of the current study was to investigate hyperimmunoglobulinemia and abnormalities of serum immunoglobulin G (IgG) subclasses in children with GD and the relation of those findings to the GD phenotype and genotype, duration of enzyme replacement therapy (ERT), and infection frequency. The study included 20 Egyptian children with GD receiving ERT and 20 age-matched and sex-matched healthy children as controls. Serum Ig and serum IgG subclass levels were measured in the children with GD. Serum IgG subclass levels were measured in the control subjects....
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Original Articles Source Type: research
To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or without progressive myoclonus epilepsy.
Source: Brain and Development - Category: Neurology Authors: Source Type: research
Semin Thromb Hemost DOI: 10.1055/s-0039-1696942Since Virchow's autopsy studies in the mid-1800s, it has generally been believed that pulmonary embolism (PE) originated from the embolization of fibrin fragments from a deep venous thrombosis (DVT). However, a DVT is often not found in patients with PE (up to 50% of cases). Could fibrin form in the pulmonary vessels without coming from the periphery? In this review, the authors will try to support the hypothesis that a pulmonary thrombosis (PT) may develop. They will do so through different clinical models related to some pathological conditions such as pneumonia, chronic obs...
Source: Seminars in Thrombosis and Hemostasis - Category: Hematology Authors: Tags: Review Article Source Type: research
AbstractGaucher disease is the most common of the lysosomal storage disorders, with a continuum of clinical features ranging from a perinatal lethal form to an asymptomatic form. Perinatal lethal Gaucher disease (PLGD), also known as fetal Gaucher disease is a distinct, severe form of type II Gaucher disease and typically presents as non- immune hydrops fetalis, hepatosplenomegaly and ichthyosiform abnormalities in the fetal life. We herein report a family with a spectrum of usual (i.e. hepatosplenomegaly) and unusual (i.e. absence of hydrops and presence of significant intrauterine growth restriction) features of PLGD wit...
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
CONCLUSION: GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important. PMID: 31500934 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
CONCLUSION: Based on these results we recommend THR as a viable treatment for symptomatic hip arthrosis, especially at older age. Specifically, the utilisation of ceramic on ceramic bearing surfaced shows promising result in patients with Gauchers disease. PMID: 31507221 [PubMed - as supplied by publisher]
Source: Hip International - Category: Orthopaedics Authors: Tags: Hip Int Source Type: research
Authors: Gervais D Abstract Therapeutic enzymes are a commercially minor but clinically important area of biopharmaceuticals. An array of therapeutic enzymes has been developed for a variety of human diseases, including leukaemia and enzyme-deficiency diseases such as Gaucher's disease. Production and testing of therapeutic enzymes is strictly governed by regulatory bodies in each country around the world, and batch-to-batch consistency is crucially important. Manufacture of a batch starts with the fermentation or cell culture stage. After expression of the therapeutic enzyme in a cell culture bioreactor, robust an...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
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