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Clinico-genetic expression of myotonic dystrophy in Istria. Lijec Vjesn 1989 Sep-Oct;111(9-10):301-4. [Serbo-Croatian (Roman)]. Ristic S, Markovic D, Janko D, Kruzic M. PMID: 2633004, UI: 90220204. The present genetic study has been conducted on 29 patients with myotonic dystrophy. The diagnosis of Steinert-Batten-Gibbs disease was made by anamnestic, clinical and laboratory procedures. Six families from Istria were examined in which genealogical study was carried out through five generations. Consanguinity was observed in one family. The frequency of myotonic dystrophy, correlative features and mortality was determined for each family. The incidence of myotonic dystrophy and correlative features among the first-, second-, and third-degree relatives of patients examined was determined. We conclude that the disease occurred far more frequently in families of patients with myotonic dystrophy (8 to 33%) than in the population in general (0.017%) and that it is significantly maintained among the first-, second-, and third-degree relatives. [Excerpt reprinted from Medline, per above hyperlink.] |
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Characteristics of myotonic dystrophy in Istria: molecular genetics approach - mutation analysis. Coll Antropol 1998 Dec;22(2):477-84. Medica I, Logar N, Batagelj M, Peterlin B. Department of Obstetrics and Gynecology, University Medical Centre, Ljubljana, Slovenia. PMID: 9887603, UI: 99104550. Myotonic dystrophy (DM) is the most prevalent myopathy in adults. In Istria one of the highest prevalence rates of 18/100,000 has been reported. Two loci, the most prevalent 19q locus with mutations in the myotonin protein kinase gene and the second locus mapped to the 3q have been so far implicated in DM. The purpose of this study was to evaluate the molecular pathogenesis in the Istrian population by the analysis of (CTG) expansion in myotonin protein kinase gene. Additionally genotype--phenotype correlation was analysed, as well as the transmission of expanded trinucleotides through generations. We investigated 27 DM patients from the 10 families that were ascertained in Istria in our previous epidemiological study. Southern blot and polymerase chain reaction (PCR) techniques were used to evaluate the (CTG) expansion. In 9 of the 10 DM families an amplification was identified as the mechanism of mutation. A correlation between the size of the (CTG) expansion and phenotype was found. Among 10 parent-child transmission analysed, one reduction, 2 stable transmissions and 7 amplifications were observed, one through the affected father. The amplification of (CTG) in the myotonin protein kinase gene was identified in the majority of Istrian DM families. Direct mutation analysis is the method of choice for clinical and prenatal diagnosis of DM. [Excerpt reprinted from Medline, per above hyperlink.] |
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Multiple sclerosis in Istria, Yugoslavia. Neurologija 1989;38(3):201-12. Materljan E, Sepcic J, Antonelli L, Sepic-Grahovac D. PMID: 2702324, UI: 91015631. An epidemiological research of multiple sclerosis (MS) in Istria, Yugoslavia, was made in the period of 1980-1981. After examining all the sources of health care information, 125 potential MS patients were found in the investigated area. According to the diagnostic criteria by Schumacher et al., 47 affected were recognized and accepted as clinically definite MS patients. The MS prevalence rate in Istria on March 31st, 1981 amounted to 25.0/10(5) inhabitants (CI: 19.9-38.9). Such rates classify Istria in the middle between the medium and high risk zones for the disease in Europe and in the world. The onset age of MS in Istria was about 30 years, the female/male sex ratio was 2.13. The average duration of MS in Istria up to the prevalence day was 16.5 years. The average annual incidence rate was 1.5/10(5) inhabitants. [Excerpt reprinted from Medline, per above hyperlink.] |
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This page compliments of Marisa Ciceran Created:
Friday, December 17, 1999; Last Updated: Monday, April 06, 2009 |
