GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization.

G(M1)-gangliosidosis is a rare progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of lysosomal β-galactosidase. We have identified seven American black bears (Ursus americanus) found in the Northeast United States suffering from G(M1)-gangliosidosis. This report describes the clinical features, brain MRI, and morphologic, biochemical and molecular genetic findings in the affected bears.

[Recombinant human tumor necrosis factor-alpha promotes human adipose-derived stromal cells transforming into osteoblast in vitro].

Objective: To investigate the effect of recombinant human tumor necrosis factor alpha (rhTNF-α) on the osteogenesis potential of the osteo-induced human adipose-derived stromal cells (hASCs) in vitro.

Methods: hASCs at passage 4 were divided into four groups according to culturing conditions: basal medium [BM, DMEM + 10% FBS + antibiotics], BM with 10 μg/L rhTNF-α, osteogenic medium (OM, BM + dexamethasone + L-ascorbate + β-glycerophosphate) and OM with 10 μg/L rhTNF-α. On days 3, 7, 14 and 21, alkaline phosphatase (ALP) activities were examined.

[Application of human adipose-derived stromal cells in bone tissue engineering].

Human adipose-derived stromal cells (hASCs) can be obtained from adipose tissues that offer an abundant and easily accessible pool of stem cells. Thus, hASCs have become a highly attractive source of seed cells in bone tissue engineering and have promising prospects in bone regeneration. Since 2002, our research group has performed a series of experiments on hASCs and its application in bone tissue engineering, including: to substitute dexamethasone by 1,25 (OH)₂ vitamin D₃ to induce osteogenic differentiation of hASCs; to explore the effect of epigenetic regulation and to inflammation on the osteogenic differentiation of hASCs; to construct a novel and simple tissue engineered bone system by hASCs and human platelet-rich plasma (hPRP) and to investigate the bone formation capability of this tissue engineered bone and the stimulatory effect of simvastatin.

Tay-Sachs disease in Jacob sheep.

Autopsy studies of four Jacob sheep dying within their first 6-8 months of a progressive neurodegenerative disorder suggested the presence of a neuronal storage disease. Lysosomal enzyme studies of brain and liver from an affected animal revealed diminished activity of hexosaminidase A (Hex A) measured with an artificial substrate specific for this component of β-hexosaminidase. Absence of Hex A activity was confirmed by cellulose acetate electrophoresis.

[Effects of rhTNF-alpha on the secretion of angiogenesis-related growth factors of human adipose tissue-derived stromal cells before and after osteogenic differentiation].

Objective: To investigate the proliferation and the secretion of vascular endothelial growth factor(VEGF), fibroblast growth factor-2(FGF-2) and insulin-like growth factor-1(IGF-1) of human adipose tissue-derived stromal cells(hADSCs) before and after osteogenic differentiation under the stimuli of recombinant human tumor necrosis factor alpha (rhTNF-alpha).

Methods: hADSCs were obtained from human lipoaspirates. All the cells used were at passage four.

[Comparison of biological characteristics of human, rabbit and rat adipose tissue-derived stromal cells in vitro].

Objective: This study aims to investigate the difference of proliferation patterns and osteogenic and adipogenic differentiation capability of adipose-derived stromal cells (ADSCs) obtained from human lipoaspirates, rat and rabbit inguinal subcutaneous adipose tissues in vitro.

Methods: Adipose tissues of healthy adults were obtained by liposuction. Human ADSCs were isolated from these adipose tissues and cultured in DMEM containing 10% fetal bovine serum (FBS).

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

We describe two sisters with a mild-onset variant of Canavan's disease who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures. Remarkably, both patients had age-appropriate head control, gross motor development, and muscle tone. There were very mild deficits in fine motor skills, coordination, and gait.