| 11. |
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| 12. |
- Lagerström-Fermér, Maria, et al.
(författare)
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Amelogenin signal peptide mutation : correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta
- 1995
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Ingår i: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 26:1, s. 159-162
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Tidskriftsartikel (refereegranskat)abstract
- Formation of tooth enamel is a poorly understood biological process. In this study we describe a 9-bp deletion in exon 2 of the amelogenin gene (AMGX) causing X-linked hypoplastic amelogenesis imperfecta, a disease characterized by defective enamel. The mutation results in the loss of 3 amino acids and exchange of 1 in the signal peptide of the amelogenin protein. This deletion in the signal peptide probably interferes with translocation of the amelogenin protein during synthesis, resulting in the thin enamel observed in affected members of the family. We compare this mutation to a previously reported mutation in the amelogenin gene that causes a different disease phenotype. The study illustrates that molecular analysis can help explain the various manifestations of a tooth disorder and thereby provide insights into the mechanisms of tooth enamel formation.
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| 13. |
- Lindén, Maria, 1965-, et al.
(författare)
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Evaluation of Enhanced High-Resolution Laser Doppler Imaging in an in Vitro Tube Model with the Aim of Assessing Blood Flow in Separate Microvessels
- 1998
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Ingår i: Microvascular Research. - : Elsevier BV. - 0026-2862 .- 1095-9319. ; 56:3, s. 261-270
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Tidskriftsartikel (refereegranskat)abstract
- An enhanced high-resolution laser Doppler imaging (EHR-LDI) technique intended for visualization of separate microvessels was evaluated by use ofin vitroflow models. In EHR-LDI, a laser beam focused to a half-power diameter less than 40 μm successively scans the tissue under study in steps of 25 μm. Spatial blood flow variations within microvascular structures of 1.5 × 1.5 mm are rendered by 64 × 64 measurement sites. Individual microvessel diameters could be estimated and an average difference of 11 μm compared to microscopic measurements was obtained. For the flow algorithm used, the LDI output signal was found to scale linearly with average velocity (0–3.5 mm/s) when a plastic tube of inner diameter 175 μm was perfused with human blood (correlation coefficient 0.99). The LDI output signal was further found insensitive to hematocrit variations in the range 16–44%. Due to the limited laser light penetration in blood, a reduction in the LDI output signal was observed as the inner tube diameters were successively changed from 280 to 1400 μm.
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| 14. |
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| 15. |
- Mauritzson, Nils, et al.
(författare)
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A single-center population-based consecutive series of 1500 cytogenetically investigated adult hematological malignancies: karyotypic features in relation to morphology, age and gender
- 1999
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Ingår i: European Journal of Haematology. - 1600-0609. ; 62:2, s. 95-102
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Tidskriftsartikel (refereegranskat)abstract
- During the 18-yr period 1976-93, a population-based series of 1586 adults with suspected or confirmed hematological malignancies were successfully cytogenetically investigated at a single center. Eighty-six cases were excluded due to unretrievable medical records or if analyzed only in remission or at relapse. The remaining 1500 medical records were reviewed regarding morphology and clinical parameters in order to investigate possible associations between karyotypic pattern (normal, 1, 2 or complex anomalies; specific abnormalities) and gender, age and morphological subgroups. The impact of time-period, i.e. 1976-87 vs. 1988-93, and referring center on cytogenetic findings was also studied. A total of 372 acute myeloid leukemias (AML), 389 myelodysplastic syndromes (MDS), 64 acute lymphoblastic leukemias (ALL) and 262 chronic myeloid leukemias (CML) were identified, altogether 1087 cases. Patients with other (n=261) or no hematological malignancies (n = 152) were excluded from the present analysis. Cytogenetic abnormalities were detected in 52% AML, 51 % MDS, 68% ALL and 97% CML, frequencies that did not differ significantly between the 2 time periods or referring centers. No significant age- or gender-related differences in karyotypic patterns were discerned in AML, MDS, ALL or CML, whereas the karyotypic patterns varied among the FAB groups in both AML (p= 0.001) and MDS (p < 0.001). The specific abnormalities t(8;21), t(15;17) and inv(16) were more common (p < 0.001) in younger AML patients and 5q- was more frequent in females with MDS (p<0.001). These findings indicate, in contrast to previous series, that neoplasia-associated karyotypic aberrations are not more common among older patients or in males.
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| 16. |
- Miller, Marilyn, T, et al.
(författare)
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The puzzle of autism: an ophthalmologic contribution.
- 1998
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Ingår i: Transactions of the American Ophthalmological Society. - 0065-9533. ; 96
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Tidskriftsartikel (refereegranskat)abstract
- A previous study of 86 thalidomide-affected subjects with ophthalmic manifestations revealed the unexpected finding of autism in 4 of the 5 severely retarded individuals. The subjects had anomalies associated with an early gestational effect of thalidomide, including facial nerve palsy and incomitant strabismus. Because autism has been observed in a few cases of Möbius sequence (Möbius syndrome), a condition characterized by involvement of the sixth and seventh cranial nerves, the similarity to early thalidomide embryopathy suggested a relation between cranial nerve involvement and autism. The present study was undertaken to further evaluate the association of autism with patients manifesting findings of Möbius syndrome.
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| 17. |
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| 18. |
- Nilsson, Elisabet W, et al.
(författare)
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Familial factors in anorexia nervosa: a community-based study.
- 1998
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Ingår i: Comprehensive Psychiatry. - 0010-440X. ; 39:6, s. 392-399
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Tidskriftsartikel (refereegranskat)abstract
- A group of 51 cases with teenage anorexia nervosa (AN; including a total population of cases from one birth cohort) were compared with a sex-, age-, and school-matched group of 51 cases on familial factors. The subjects were examined at age 16 and 21 years. In the first study, mothers of both groups were interviewed regarding physical and psychiatric disorders among first-degree relatives. In the followup study, the subjects were interviewed according to the same structured interview schedule. The data from these interviews were deidentified, and case notes were prepared by a clinician blind to group status. The randomly assorted case notes were then submitted to an experienced psychiatrist who also was blind to group status. There were more relatives with a history and symptoms suggestive of pervasive developmental disorders (PDD) and major depression in the AN group. There was also significantly more death in first-degree relatives of anorexia nervosa cases. In respect to many axis I DSM-IV diagnoses, including eating disorders and substance abuse, there were no significant differences across groups. Instead we found PDD symptoms, major depression, and death in first-degree relatives to be important in the AN group.
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| 19. |
- Nilsson, E. W, et al.
(författare)
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Ten-year follow-up of adolescent-onset anorexia nervosa: personality disorders
- 1999
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Ingår i: Journal of the American Academy of Child and Adolescent Psychiatry. - : Elsevier BV. - 0890-8567. ; 38:11, s. 1389-1395
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study the development of personality disorders, especially those involving obsessions, compulsions, and social interaction problems, in a representative group of anorexia nervosa (AN) cases. METHOD: The prevalence of personality disorders, obsessive-compulsive disorder, and autism spectrum disorders at mean age 24 years (10 years after reported onset) was examined in 51 adolescent-onset AN cases recruited after community screening and 51 comparison cases matched for age, sex, and school. All 102 cases had originally been examined at age 16 years and followed up at 21 years. At 24 years, structured and validated psychiatric diagnostic interviews were performed by a psychiatrist who was blind to original diagnosis. The majority of AN cases (94%) were weight-restored. RESULTS: Personality disorders, particularly cluster C, and autism spectrum disorders were overrepresented in the AN group. Obsessive-compulsive personality disorder and/or autism spectrum disorder was diagnosed in a subgroup of AN cases in all 3 studies. This subgroup had a very poor psychosocial outcome. CONCLUSIONS: Persistent problems with obsessions, compulsions, and social interaction characterized a substantial minority of weight-restored AN cases at 10-year follow-up. These problems appear to be constitutional rather than a result of AN, and they may warrant a different treatment approach.
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| 20. |
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