ylumbelliferyl-ƒ¿-L-iduronide as a substrate, ƒ¿-L-iduronidase activity was meas ured in leukocytes and in lymphoblastoid cells obtained from patients with ƒ¿-L-iduronidase deficiency and from obligate heterozygotes for this disease . There was complete discrimination between ƒ¿-L-iduronidase activities measured using 4-methylumbelliferyl-ƒ¿-L-iduronide in leukocytes and in lymphoblastoid cells...

Initial biochemical investigations led to the unexpected discovery that plasma samples of patients with Gaucher disease (GD), a lysosomal storage disease, had a several hundred-fold elevated ability to hydrolyse chitin, a polymer of beta 1,4-linked N-acetylglucosamine that is largely diffuse in nature.1 Later, the same investigators observed that lipid-laden activated macrophages accumulating i...

BACKGROUND An incomplete understanding of bone forming cells during wound healing and ectopic calcification has led to a search for circulating cells that may fulfill this function. Previously, we showed that monoosteophils, a novel lineage of calcifying/bone-forming cells generated by treatment of monocytes with the natural peptide LL-37, are candidates. In this study, we have analyzed their g...

Twenty-five genome-wide association studies (GWAS) of asthma were published between 2007 and 2016, the largest with a sample size of 157242 individuals. Across these studies, 39 genetic variants in low linkage disequilibrium (LD) with each other were reported to associate with disease risk at a significance threshold of P<5 × 10-8, including 31 in populations of European ancestry. Results from ...

Interactions between periprosthetic cells and prosthetic wear debris have been recognized as an important event in the development of osteolysis and aseptic loosening. Although the ability of wear debris to activate pro-inflammatory macrophage signaling has been documented, the full repertoire of macrophage responses to wear particles has not been established. Here, we examined the involvement ...

OBJECTIVE This study was undertaken to analyze the relation between serum activity of chitotriosidase enzyme, a protein synthesized exclusively by activated macrophages, and atherosclerotic lesion extent in subjects with atherothrombotic stroke (ATS) and in subjects with ischemic heart disease (IHD). METHODS AND RESULTS We assayed the serum chitotriosidase activity and a common chitotriosidas...

BACKGROUND The aim of the study was to assess a panel of promising biomarkers for their ability to improve diagnosis of sporadic amyotrophic lateral sclerosis (ALS). METHODS Forty patients with sporadic ALS and 40 controls with other neurological diseases were evaluated. Levels of phosphorylated neurofilament heavy chain (pNfH), S100-β, cystatin C, and chitotriosidase (CHIT) in cerebrospinal ...

Brugada syndrome (BrS) is an inherited disorder that can lead to sudden cardiac death. Candidate genes primarily include those encoding the sodium channel, whereas other genetic variants affecting channels, signaling, scaffold, sarcomere, and mitochondrial proteins are controversial, leaving architecture of BrS largely unknown. The aim this work was improve diagnosis prognosis BrS, further unde...

Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It caused by mutations in the CTNS gene that encodes cystine transporter, cystinosin, which leads to accumulation. major cause of inherited Fanconi syndrome, should be suspected young children failure thrive signs renal proximal tubular damage. The diagnosis can missed infants, beca...