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Biomedical subjects

A Voutilainen

Publications and source records attributed to A Voutilainen.

At least 19 recordsLinked to original sources

A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32.

Developmental dyslexia is a distinct learning disability with unexpected difficulty in learning to read despite adequate intelligence, education, and environment, and normal senses. The genetic aetiology of dyslexia is heterogeneous and loci on chromosomes 2, 3, 6, 15, and 18 have been repeatedly linked to it. We have conducted a genome scan with 376 markers in 11 families with 38 dyslexic subjects ascertained in Finland. Linkage of dyslexia to the vicinity of DYX3 on 2p was confirmed with a non-parametric linkage (NPL) score of 2.55 and a lod score of 3.01 for a dominant model, and a novel locus on 7q32 close to the SPCH1 locus was suggested with an NPL score of 2.77. The SPCH1 locus has previously been linked with a severe speech and language disorder and autism, and a mutation in exon 14 of the FOXP2 gene on 7q32 has been identified in one large pedigree. Because the language disorder associated with the SPCH1 locus has some overlap with the language deficits observed in dyslexia, we sequenced the coding region of FOXP2 as a candidate gene for our observed linkage in six dyslexic subjects. No mutations were identified. We conclude that DYX3 appears to be important for dyslexia susceptibility in many Finnish families, and a suggested linkage of dyslexia to chromosome 7q32 will need verification in other data sets.

Chromosome Mapping↗

Correlations between radon concentration and indoor gamma dose rate, soil permeability and dwelling substructure and ventilation.

Correlations between radon concentration and indoor gamma dose rate, soil permeability and dwelling substructure and ventilation were studied using data from 84 low rise residential houses collected in an area of enhanced indoor radon concentration. The radon concentrations varied from 30 to > 5000 Bq m(-3). Cross-tabulation, comparisons of means and multiplicative models were used to test the significance of the effects. In this study a quite high percentage of explained variation R2 (68%) was found. It was found that the most important factors were the substructure and the permeability of the soil. Due to the rather small sample size and moderate variation in the uranium content of the bedrock of the area, the effect of the indoor gamma dose rate was not so prominent. The effects of ventilation habits and sleeping with open windows were not detected in this study.

Air Pollution, Indoor↗

A dominant gene for developmental dyslexia on chromosome 3.

Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a multipoint lod score of 3.84. Nineteen out of 21 affected pedigree members shared this region identical by descent (corrected p<0.001). Previously implicated genomic regions showed no evidence for linkage. Sequencing of two positional candidate genes, 5HT1F and DRD3, did not support their role in dyslexia. The new locus on chromosome 3 is associated with deficits in all three essential components involved in the reading process, namely phonological awareness, rapid naming, and verbal short term memory.

Adolescent↗

Two translocations of chromosome 15q associated with dyslexia.

Developmental dyslexia is characterised by difficulties in learning to read. As reading is a complex cognitive process, multiple genes are expected to contribute to the pathogenesis of dyslexia. The genetics of dyslexia has been a target of molecular studies during recent years, but so far no genes have been identified. However, a locus for dyslexia on chromosome 15q21 (DYX1) has been established in previous linkage studies. We have identified two families with balanced translocations involving the 15q21-q22 region. In one family, the translocation segregates with specific dyslexia in three family members. In the other family, the translocation is associated with dyslexia in one family member. We have performed fluorescence in situ hybridisation (FISH) studies to refine the position of the putative dyslexia locus further. Our results indicate that both translocation breakpoints on 15q map within an interval of approximately 6-8 Mb between markers D15S143 and D15S1029, further supporting the presence of a locus for specific dyslexia on 15q21.

Adolescent↗

High indoor radon variations and the thermal behavior of eskers.

Measurements of indoor radon concentrations in houses built on the Pispala esker in the city of Tampere were taken. The objective was to find connections between indoor radon concentrations, esker topography, and meteorological factors. The results show that not only the permeable soil but also subterranean air-flows in the esker strongly affect the indoor radon concentrations. The difference in temperature between the soil air inside the esker and the outdoor air compels the subterranean air to stream between the upper and lower esker areas. In winter, the radon concentrations are amplified in the upper esker areas where air flows out from the esker. In summer, concentrations are amplified in certain slope zones. In addition, wind direction affects the soil air and indoor radon concentrations when hitting the slopes at right angles. Winter-summer concentration ratios are typically in the range of 3-20 in areas with amplified winter concentration, and 0.1-0.5 in areas with amplified summer concentrations. A combination of winter and summer measurements provides the best basis for making mitigation decisions. On eskers special attention must be paid to building technology because of radon.

Air Pollutants, Radioactive↗

Studies of high indoor radon areas in Finland.

Solid state nuclear track detectors were used in a regional survey of radon in indoor air. The study area comprises seven rural municipalities and two towns in an area of 80 X 50 km2 with a population of about 65,000. Measurements were made in 754 houses in 31 subareas. The highest and lowest subarea means were 1,200 Bq/m3 and 95 Bq/m3, respectively. The estimated mean for the whole area was 370 Bq/m3. The concentrations 2,000 Bq/m3 and 800 Bq/m3 were exceeded in 32 and 90 houses, respectively. The present lung cancer incidence does not differ significantly from the national mean.

Environmental Exposure↗

Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.

Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of the calves, but neither cardiomyopathy nor mental retardation. Serum CK activities exceeded upper normal limit by 70 to 85-fold. Muscle biopsies were compatible with muscular dystrophy. Both girls had a normal karyotype. The healthy mother had mild CK elevations in two out of three occasions, but the muscle biopsy was normal. Three out of the six unaffected sibs had mild CK elevations. The findings support the concept of severe progressive muscular dystrophy with autosomal recessive inheritance. The condition is clinically indistinguishable from Duchenne muscular dystrophy.

Creatine Kinase↗

Chest wall recurrences after operation and postoperative irradiation of mammary carcinoma.

The frequency of recurrences in a material of 463 patients with mammary carcinoma following treatment by surgery with or without postoperative roentgen or cobalt irradiation to the operation area and regional lymph nodes is analysed. Postoperative irradiation to the operation area seems to prevent the chest wall recurrences even in stage I mammary carcinoma.

Breast Neoplasms↗

Complications following radiotherapy in gynaecological carcinoma: comparison between X-ray and megavoltage therapy.

The use of megavoltage therapy has in some investigations been shown to be associated with improvement in the prognosis of gynaecological carcinoma. Our purpose was to clarify whether the character or number of complications has changed with the increased effectiveness of treatment. During the years 1967-1970 a total of 449 cases of gynaecological carcinoma (cervical, endometrial, ovarian) were treated at the Department of Obstetrics and Gynaecology and the Department of Radiation Therapy, Turku University; tele-Cobalt was used for external radiation. The comparison period was the years 1963-1965 when 289 patients were treated, the external radiation then in use being X-ray therapy. Intracavitary radiation was given in both groups using the modified Stockholm method for cervical carcinoma and the Heyman method for endometrial carcinoma. Operative activity was about the same in both periods. Patients with cervical carcinoma treated with tele-Cobalt appeared to have a higher frequency of severe intestinal complications (12.4%) than patients receiving X-ray therapy (6.0%); the difference was not, however, statistically significant. The same is true concerning the treatment groups of ovarian cancer (4.8% and 0% respectively) and those of endometrial carcinoma (5.2% and 1.2%). However, if all the patients as a group are considered and also those with urological complications, the difference was significant (p less than 0.05), the frequency of complications being 7.6% for patients treated with tele-Cobalt and 4.2% for those treated with X-ray therapy. One must take into account that in all cases the most difficult complications were seen in patients treated with tele-Cobalt, where surgical treatment was necessary in 29%.

Adult↗

Effects of megavoltage therapy of cancer on the eye.

Twenty-two cases with carcinomas of the nasal cavity, sinuses, buccal and orbital regions treated in the Radiotherapy Clinic of University Central Hospital in Turku, are presented. The dose delivered to the eye was 1400 to 6300 rd. The most usual radiation complication was keratitis which appeared in 15 cases, cataract was diagnosed in seven cases, corneal ulcer in three, iritis in two, retinopathia in two, and glaucoma in three cases. Most of the complications could be relieved or cured with appropriate therapy. In only one case the eye was to be enucleated because of severe glaucoma and corneal ulceration. As the prognosis of malignant tumours in this area usually is bad, irradiation to the eye on the affected side is to be taken as a calculated risk to achieve a more effective cancer control.

Adult↗