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- Lopponen, T, et al.
(författare)
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Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland
- 2003
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Ingår i: Laryngoscope. - 1531-4995. ; 113:10, s. 1758-1763
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aims of the present study were to evaluate the role of the gap junction protein beta-2 gene (GJB2), encoding connexin 26 (Cx26), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to investigate the carrier frequencies of the GJB2 gene mutations in a control population in Northern Finland. Methods: Mutation analysis was performed by direct sequencing and carrier detection by conformation sensitive gel electrophoresis further confirmed by direct sequencing. Results: Cx26 mutations were found in 15 of 71 (21.1%) (67 families) children with HI. Homozygosity for the mutation 35delG was shown to be the cause of HI in 13 of 15 (86.7%) children. Homozygosity for the M34T genotype was found in one child, and compound heterozygosity for the M34T/V37I genotype was found in another. Five families of those with suspected familial HI (29.4%) and six families out of those with sporadic HI (12.0%) had a homozygous or compound heterozygous mutation. The carrier frequency for the mutation 35delG was 1 of 78 (4 of 313) and that for the M34T was I of 26 (12 of 313). Conclusion: 35deIG/35deIG genotype was found to be a significant cause of moderate to profound prelingual. nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation.
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| 4. |
- Pirttiniemi, P, et al.
(författare)
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Dental maturation in children with shunt-treated hydrocephalus
- 2004
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Ingår i: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. - : SAGE Publications. - 1055-6656. ; 41:6, s. 651-654
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to examine the relationship between dental maturation and somatic development and to discover their possible deviations in children with shunt-treated hydrocephalus. Design Radiographs (orthopantomogram and hand-wrist radiograph) from children with shunt-treated hydrocephalus were analyzed with respect to the dental maturation and compared with values of an age- and sex-matched control group and population standards. Patients Forty-one children with shunt-treated hydrocephalus (27 boys and 14 girls) aged from 5 to 16 years (median age 11.0 years). Results The mean deviation of dental age from chronological age was significantly greater in the hydrocephalic group than in the control group. The mean value of dental age deviation was advanced in early pubertal stages but reduced in later pubertal stages. Conclusions These findings can be explained by changes in the endocrinological conditions, which are due to disturbed pituitary secretion. The present results could also partly reflect an adaptable developmental pathway in an otherwise strictly genetically determined process.
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