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What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview.

Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients' quality

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… GM1 gangliosidosis | GLB1 | β-Galactosidase | GM1 ganglioside, keratan sulfate and oligosaccharides | Type I: premature death, severe neurological manifestations, organonomegaly, skeletal abnormalities, blindness and deafness. …

Proteoglycans as Molecular Regulators of Bone Metastasis: Extracellular Matrix Remodeling, Tumor-Bone Crosstalk, Dormancy, and Therapeutic Opportunities.

Background: Bone metastasis is a frequent and debilitating complication of advanced cancer, particularly in breast and prostate cancer, and is driven by complex interactions among tumor cells, bone-resident cells, immune populations, vascular components, and the extracellular matrix. Within this specialized microenvironment, proteoglycans have emerged as key molecular regulators of tumor-bone crosstalk, matrix remodeling, metastatic niche formation, dormancy, and therapeutic resistance. Methods: We conducted a narrative review using targeted searches of PubMed and Google Scholar for studies pu

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… PGs are structurally diverse glycoconjugates composed of a core protein covalently linked to one or more glycosaminoglycan (GAG) chains, including heparan sulfate, chondroitin sulfate, dermatan sulfate, keratan sulfate, and hyaluronan (HA)-associated complexes [ 17 , 18 ]. …

Classification of Dystonia.

Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or posture caused by excessive muscle contraction. Because of its wide clinical spectrum, dystonia is often underdiagnosed or misdiagnosed. In clinical practice, dystonia could often present in association with other movement disorders. An accurate physical examination is essential to describe the correct phenomenology. To help clinicians reaching the proper diagnosis, several classifications of dystonia have been proposed. The current classification consists of axis I, clinical characteristics, and axis II, etiolo

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… This enzyme is involved in the degradation of glycoproteins, glycolipids, and keratan sulfate [ 88 ]. …

СРП 2013

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Invited Lectures : Overviews Purinergic signalling: past, present and future.

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