UK PubMed Central (United Kingdom)

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities...Full Text Available

UK PubMed Central (United Kingdom)

Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent...Full Text Available

UK PubMed Central (United Kingdom)

A 41-year-old white woman was referred to our Department to rule out the presence of a Fuch's corneal dystrophy. On slit-lamp biomicroscopy, small bilateral punctuate opacities appearing mostly in the...Full Text Available

UK PubMed Central (United Kingdom)

PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available

UK PubMed Central (United Kingdom)

Genetic defects in the dystrophin-associated protein complex (DAPC) are responsible for a variety of pathological conditions including muscular dystrophy, cardiomyopathy, and vasospasm. Conserved DAPC...Full Text Available

UK PubMed Central (United Kingdom)

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding...Full Text Available

British Library Electronic Table of Contents (United Kingdom)

KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...

Energy Technology Data Exchange (ETDEWEB)

Stargardt`s disease (MIM 248200), originally described in 1909, is an autosomal recessive condition of childhood, characterized by a sudden and bilateral loss of central vision. Typically, it has an early onset (7 to 12 years), a rapidly progressive course and a poor final outcome. The central area of the retina (macula) displays pigmentary changes in a ring form with depigmentation and atrophy of the retinal pigmentary epithelium (RPE). Perimacular yellowish spots, termed fundus flavimaculatus, are observed in a high percentage of patients. We have recently reported the genetic mapping of Stargardt`s disease to chromosome 1p13. On the other hand, considering that fundus flavimaculatus (MIM 230100) is another form of fleck fundus disease, with a Stargardt-like retinal aspect but with a late-onset and a more progressive course, we decided to test the hypothesis of allelism between typical Stargardt`s disease and late-onset autosomal recessive fundus flavimaculatus. Significant pairwise ...

Science.gov (United States)

Pain is necessary for survival but chronic pain is disabling and causes significant health and economic problems. This study provides an understanding of the future for spinal cord stimulation. Stimulation by means of chronically implanted electrodes, was carried out in 200 patients with pain of varied benign organic etiology. In 177 of them, pain was confined to the failed back syndrome. Most patients were referred by a Pain Management Service. 226 epidural implants were used: 80 unipolar, 59 Resume, 12 bipolar, and 75 quadripolar. Patients were followed for periods of 6 months to 12 years, with a mean follow-up of 44 months. 84 patients (42%) were able to control their pain by stimulation alone, 22 patients (11%) needed occasional analgesic supplements along with their stimulation program. Pain secondary to failed back syndrome, multiple sclerosis, peripheral vascular disease, sympathetic dystrophy and diabetic neuropathy responded favorably. Pain due to cauda ...

International Nuclear Information System (INIS)

Selenium and iodine are trace elements that play an important role in health of man and animals. Concerning supply of both elements it is important to meet nutritional needs. According to discoveries selenium is a part of an active group of glutathione peroxidase enzyme. It prevents necrotic changes in liver, muscle dystrophy and has impact on growth. Extensive studies on content of selenium in plant and animal origin products were started in the beginning of the seventies in Western Europe (Frankenberger, et al., 1998). The aim of our work was to determine selenium and iodine content in total diets of Slovene military. Slovene military nutrition is based on its own nutritional standards, which determine 200 #mu#g of iodine and 50 #mu#g of selenium in daily diet (Rep. Slovenija Ministrstvo za Obrambo, 1994). To determine if the amounts of both elements meet the standards we have analysed 20 total daily diets from four different barracks within a two month period. ...

Energy Technology Data Exchange (ETDEWEB)

Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To characterize this region further, fifty-five YACs ...