Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I.

Mutations in the fukutin-related protein (FKRP) gene cause dystroglycanopathy, with disease severity ranging from mild LGMD2I to severe congenital muscular dystrophy. Recently, considerable progress has been made in developing experimental therapies, with adeno-associated virus (AAV) gene therapy and ribitol treatment demonstrating significant therapeutic effect. However, each treatment has its strengths and weaknesses.

Ribitol dose-dependently enhances matriglycan expression and improves muscle function with prolonged life span in limb girdle muscular dystrophy 2I mouse model.

Limb Girdle Muscular Dystrophy 2I (LGMDR9) is one of the most common LGMD characterized by defects in glycosylation of α-dystroglycan (matriglycan) resulting from mutations of Fukutin-related protein (FKRP). There is no effective therapy currently available. We recently demonstrated that ribitol supplement increases levels of matriglycan in cells in vitro and in FKRP-P448L (P448L) mutant mouse model through drinking water administration.

In vitro cytotoxicity of a low-shrinkage polymerizable liquid crystal resin monomer.

The objective of this study was to determine the in vitro cytotoxicity of novel, polymerizable liquid crystal resin monomers when placed in direct contact with dental and nondental cell lines. One common dimethacrylate and three liquid crystal compounds, Bis-glycidyl methacrylate (Bis-GMA), 2-(t-butyl)-1,4-bis-{4-(6-acryloxy-hexane-1-oxy)-benzoyloxy}-benzene (C6), 2-(t-butyl), 1-[6-(3-acryloxy-propionoxy)-hexane-1-oxy-benzoyloxy], 4-[4-(6-acryloxy-hexane-1-oxy)-benzoyloxy]-benxene (by-product), and a 3:2 mixture of C6 and by-product, respectively, were tested for relative cytotoxicity in vitro. Cultured dental and nondental cells were treated for 24 h with test compound dissolved in media over a fourfold range of concentration (10(-4) -10(-7) mol/L).

Viral hepatitis in minority America.

Viral hepatitis continues as an important public health concern in the United States. Available data indicate that acute and chronic viral hepatitis remains an important cause of morbidity and mortality in this country despite the availability of immunization for hepatitis A and B and pharmacologic therapy for chronic hepatitis B and C. Minority populations within the United States are disproportionately affected by acute and chronic viral hepatitis.

Small Bowel Lymphoma.

Treatment of small bowel lymphoma requires the expertise of medical and surgical subspecialists. The two most important factors that determine the optimal treatment are histology and staging of small bowel lymphoma. Other factors that may affect treatment include age, multiple areas of involvement, tumor size, and perforation.

The potential for faking on the Mississippi Scale for Combat-Related PTSD.

The Mississippi Scale for Combat-Related PTSD is widely used in the assessment of post-traumatic stress disorder (PTSD). The high face-validity of the scale may make it vulnerable to faking, however. The present study found that the scores of individuals instructed to respond "as if" they had PTSD did not differ from the scores of veterans with PTSD.

Using incentives to motivate women to seek prenatal care: an effective outreach strategy.

Expanded Medicaid eligibility and case-managed care have contributed to improved birth outcomes and reduced Medicaid expenditures in Alabama. In 1990, 26.5 percent of all women delayed entry to care until the fourth month of pregnancy or later.

Subcutaneously implanted tissue chambers: a pathophysiological study.

Tissue and fluid changes occurring within tissue chambers were characterised as a function of time after subcutaneous implantation in cattle. Cytological and chemical investigation revealed that the composition of fluid within chambers approached the theoretical composition of true interstitial fluid as time after implantation progressed. Erythrocyte and leucocyte numbers decreased sharply immediately after implantation and had reached stable numbers by 40 days after implantation.

Regulation of gene function: a comparison of X-linked enzyme activity levels in normal and intersexual triploids of Drosophila melanogaster.

We have measured gene function in normal and male-like intersexual triploids of Drosophila melanogaster by assaying crude extracts of whole flies or thoraces for levels of an X-linked (6-phosphogluconate dehydrogenase) and an autosomal (NADP-dependent isocitrate dehydrogenase) enzyme activity. Our observations lead us to conclude that each dose of the X-linked gene is more active in the cells of these intersexes than it is in normal triploid or diploid female cells. These results indicate that a level of activity intermediate between the normal male and female levels is possible for X-linked genes.

Genetic and biochemical evidence for two forms of oculocutaneous albinism in man.

Previous evidence for the existence of at least two genetically distinct forms of generalized oculocutaneous albinism was confirmed by the observation of a mating between two Negro albinos who had a normally pigmented daughter. Extensive blood typing provided no evidence for nonpaternity. Clinical and biochemical differences in the two types of albinism found in this family should permit easy recognition of these entities, although in Caucasians the two phenotypes may be quite similar.