BACKGROUND Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder related to a deficiency in the enzyme iduronate-2-sulfatase (IDS). Clinical trials of enzyme replacement therapy are in progress, but effective treatment will require screening assays to enable early detection and diagnosis of MPS II. Our study evaluated the diagnostic accuracy of IDS protein and enzyme activity m...

Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. Optimal management of these multisystemic disorders involves a multidisciplinary team and regular, comprehensive follow-up. Enzyme replacement therapy (ER...

Reliable behavioural tests in animal models of neurodegenerative diseases allow us to study the natural history of disease and evaluate the efficacy of novel therapies. Mucopolysaccharidosis IIIA (MPS IIIA or Sanfilippo A), is a severe, neurodegenerative lysosomal storage disorder caused by a deficiency in the heparan sulphate catabolising enzyme, sulfamidase. Undegraded heparan sulphate accumu...

Mononuclear phagocytic function was studied using the Fc-receptor test in 24 patients who underwent splenectomy, ten of whom underwent splenic autotransplantation. All patients undergoing autotransplantation had mononuclear phagocyte system (MPS) activity at the transplantation sites. In eight of the 14 patients who did not undergo autotransplantation there was also scintigraphic MPS activity i...

BACKGROUND Steroid associated osteonecrosis is difficult to treat. Teriparatide, as the only one bone anabolic drug, has achieved very promising effect in osteoporosis and other bone skeletal diseases. We carried out this animal study to evaluate the effect of subcutaneous injection of teriparatide for the steroid induced femoral head necrosis in a rat model. METHODS 24 Sprague-Dawley male ad...

BACKGROUND Mild parkinsonian signs (MPS) are common in the elderly population, and have been associated with vascular diseases, mild cognitive impairment and dementia; however their relation to Parkinson's disease (PD) is unclear. Hypothesizing that individuals with MPS may reflect a pre-stage of PD, i.e. a stage in which the nigrostriatal system is already affected although to a milder degree ...

Background Even though diabetes mellitus (DM) has been considered a "Coronary Artery Disease (CAD) equivalent", that is still controversial, especially in a contemporary population subject to optimized treatment. Objective We aimed to assess the cardiovascular risk of diabetics by myocardial perfusion scintigraphy (MPS). Methods Consecutive patients who underwent MPS from 2008 to 2012 were ...

A novel type of denitrifying bacterium (strain HxN1) with the capacity to oxidize n-alkanes anaerobically with nitrate as the electron acceptor to CO(2) formed (1-methylpentyl)succinate (MPS) during growth on n-hexane as the only organic substrate under strict exclusion of air. Identification of MPS by gas chromatography-mass spectrometry was based on comparison with a synthetic standard. MPS w...

BACKGROUND Injury to the mesothelial layer of the peritoneal membrane during peritoneal dialysis (PD) is implicated in loss of ultrafiltration capacity, but there are no validated biomarkers for mesothelial cell injury. Microparticles (MPs) are 0.1 to 1.0 µm membrane vesicles shed from the cell surface following injury and are sensitive markers of tissue damage. Formation of MPs in the peritone...

AIMS To investigate the feasibility and to compare three devices measuring intraocular pressure (IOP) in mucopolysaccharidosis patients (MPS): iCare rebound tonometer (RT), Perkins applanation tonometer (PAT) and ocular response analyzer (ORA). METHODS MPS patients who underwent at least two examinations out of: RT, PAT and ORA at the same visit were identified and retrospectively analyzed in...