Open-label, single-center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I.

Lysosomal enzyme deficiency in mucopolysaccharidosis (MPS) I results in glycosaminoglycan (GAG) accumulation leading to pain and limited physical function. Disease-modifying treatments for MPS I, enzyme replacement, and hematopoietic stem cell therapy (HSCT), do not completely resolve MPS I symptoms, particularly skeletal manifestations. The GAG reduction, anti-inflammatory, analgesic, and tissue remodeling properties of pentosan polysulfate sodium (PPS) may provide disease-modifying treatment for musculoskeletal symptoms and joint inflammation in MPS I following ERT and/or HSCT.

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline.

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS).

Pre-freeze bull sperm head morphometry related to post-thaw fertility.

Artificial insemination using cryopreserved semen is a common management tool of the contemporary livestock producer. The ability to determine post-thaw fertility from pre-freeze sperm function parameters would be of major benefit to producers. In this study computer-aided sperm head morphometry was used to determine whether there is any association between pre-freeze bull sperm head measurements and post-thaw non-return to oestrus rates.

Flow cytometric assessment of changes in rat sperm mitochondrial function after treatment with pentachlorophenol.

The fluorophore 5,5',6,6'-tetrachloro-1,1',3,3'-tetraethylbenzimidazolyl carbocyanine iodide (JC-1) localizes to the mitochondria and is affected by membrane potential, fluorescing bright orange when the membrane potential is high and green when mitochondrial membrane potential is low. The present study used flow cytometric analysis of JC-1 staining patterns of large numbers of spermatozoa to detect chemical-induced alterations of sperm mitochondrial membrane potential. Cauda epididymal rat spermatozoa were incubated with pentachlorophenol (PCP; 0.