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Gabriella Zara

Publications and source records attributed to Gabriella Zara.

4 recordsLinked to original sources
PubMed2005

Co-segregation of LMNA and PMP22 gene mutations in the same family.

We report here clinical, electrophysiological, and molecular findings in a family affected with two inherited genetic diseases: limb girdle muscular dystrophy type 1B (LGMD1B) and hereditary neuropathy with liability to pressure palsies (HNPP). Members of the family carry a novel missense mutation in the LMNA gene and a nonsense mutation in the PMP22 gene. Interestingly, the double LMNA/PMP22 mutations carriers showed clinical features more severe than usually seen in HNPP, and electrophysiological findings suggesting an axonal loss in addition to a typical myelinopathy. This study provides further insights into the relevance of lamin A/C in muscle and nerve.

Aged↗
PubMed2005

Homologous muscle acellular matrix seeded with autologous myoblasts as a tissue-engineering approach to abdominal wall-defect repair.

Myoblasts were obtained by culturing in vitro, single muscle fibers, isolated by enzymatic digestion from rat flexor digitorum brevis, and their phenotype was confirmed by myogenic differentiation factor, myogenic factor-5, myogenin and desmin. Cultured myoblasts were harvested and seeded on patches of homologous acellular matrix, obtained by detergent-enzymatic treatment of abdominal muscle fragments. Myoblast-seeded patches were inserted between obliqui abdominis muscles on the right side of 1-month-old rats, while non-seeded patches were implanted on the left side. Thirty days after surgery, non-seeded patches were completely replaced by fibrous tissue, while the structure of myoblast-seeded patches was well preserved until the 2nd month. Seeded patches displayed abundant blood vessels and myoblasts, and electromyography evidenced in them single motor-unit potentials, sometimes grouped into arithmic discharges. Ninty days after implantation, the thickness of myoblast-seeded patches and their electric activity decreased, suggesting a loss of contractile muscle fibers. In conclusion, the present results indicate that autologous myoblast-homologous acellular muscle matrix constructs are a promising tool for body-wall defect repair, and studies are under way to identify strategies able to improve and maintain the structural and functional integrity of implants for longer periods.

Abdominal Muscles↗
PubMed2002

Anti-heparan sulfate antibodies in neurological disease.

Antibodies to heparan sulfate (HS) have previously been found in association with peripheral neuropathy. We tested sera from patients with neuropathies and with other neurological diseases for antibodies to HS using an avidin-biotin enzyme-linked immunosorbent assay (ELISA) system. Increased titers of anti-HS antibodies were found in 3.4% of patients with neuropathy, and in 3% of patients with other neurological diseases. In all cases, however, an inflammatory disease was present, including chronic inflammatory neuropathy, cerebral vasculitis, or multiple sclerosis. Antibodies to HS appear not to be specific for neuropathy, as they occur in several inflammatory diseases. They might contribute to the associated breakdown of the blood-brain or blood-nerve barrier.

Autoantibodies↗