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6 results on '"Audolfsson, G."'

1. Rare and Common Variants Conferring Risk of Tooth Agenesis

Author

Jonsson, L., Magnusson, T.E., Thordarson, A., Jonsson, T., Geller, F., Feenstra, B., Melbye, M., Nohr, E.A., Vucic, S., Dhamo, B., Rivadeneira, F., Ongkosuwito, E.M., Wolvius, E.B., Leslie, E.J., Marazita, M.L., Howe, B.J., Uribe, L.M. Moreno, Alonso, I., Santos, M., Pinho, T., Jonsson, R., Audolfsson, G., Gudmundsson, L., Nawaz, M.S., Olafsson, S., Gustafsson, O., Ingason, A., Unnsteinsdottir, U., Bjornsdottir, G., Walters, G.B., Zervas, M., Oddsson, A., Gudbjartsson, D.F., Steinberg, S., Stefansson, H., Stefansson, K., Jonsson, L., Magnusson, T.E., Thordarson, A., Jonsson, T., Geller, F., Feenstra, B., Melbye, M., Nohr, E.A., Vucic, S., Dhamo, B., Rivadeneira, F., Ongkosuwito, E.M., Wolvius, E.B., Leslie, E.J., Marazita, M.L., Howe, B.J., Uribe, L.M. Moreno, Alonso, I., Santos, M., Pinho, T., Jonsson, R., Audolfsson, G., Gudmundsson, L., Nawaz, M.S., Olafsson, S., Gustafsson, O., Ingason, A., Unnsteinsdottir, U., Bjornsdottir, G., Walters, G.B., Zervas, M., Oddsson, A., Gudbjartsson, D.F., Steinberg, S., Stefansson, H., and Stefansson, K.

Abstract

Item does not contain fulltext, We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.

Published
2018

2. Rare and Common Variants Conferring Risk of Tooth Agenesis

Author

Jonsson, L. (L.), Magnusson, T.E. (T. E.), Thordarson, A. (A.), Jonsson, T. (Thorvaldur), Geller, F. (Frank), Feenstra, B. (Bjarke), Melbye, M. (Mads), Nohr, C. (Christian), Vučić, S. (Strahinja), Dhamo, B. (Brunilda), Rivadeneira, F. (F.), Ongkosuwito, E.M. (Edwin), Wolvius, E.B. (Eppo), Leslie, E.J. (Elizabeth J.), Marazita, M.L. (Mary), Howe, B.J. (B. J.), Moreno Uribe, L.M. (L. M.), Alonso, I. (I.), Santos, M. (M.), Pinho, T. (T.), Jonsson, R. (R.), Audolfsson, G. (G.), Gudmundsson, L. (Larus), Nawaz, M.S. (M. S.), Olafsson, S. (S.), Gustafsson, O. (Omar), Ingason, A. (A.), Unnsteinsdottir, U. (U.), Bjornsdottir, G. (G.), Walters, G.B. (Bragi), Zervas, M. (M.), Oddsson, A. (A.), Gudbjartsson, D.F. (Daniel), Steinberg, S. (Stacy), Stefansson, H. (Hreinn), Stefansson, K. (K.), Jonsson, L. (L.), Magnusson, T.E. (T. E.), Thordarson, A. (A.), Jonsson, T. (Thorvaldur), Geller, F. (Frank), Feenstra, B. (Bjarke), Melbye, M. (Mads), Nohr, C. (Christian), Vučić, S. (Strahinja), Dhamo, B. (Brunilda), Rivadeneira, F. (F.), Ongkosuwito, E.M. (Edwin), Wolvius, E.B. (Eppo), Leslie, E.J. (Elizabeth J.), Marazita, M.L. (Mary), Howe, B.J. (B. J.), Moreno Uribe, L.M. (L. M.), Alonso, I. (I.), Santos, M. (M.), Pinho, T. (T.), Jonsson, R. (R.), Audolfsson, G. (G.), Gudmundsson, L. (Larus), Nawaz, M.S. (M. S.), Olafsson, S. (S.), Gustafsson, O. (Omar), Ingason, A. (A.), Unnsteinsdottir, U. (U.), Bjornsdottir, G. (G.), Walters, G.B. (Bragi), Zervas, M. (M.), Oddsson, A. (A.), Gudbjartsson, D.F. (Daniel), Steinberg, S. (Stacy), Stefansson, H. (Hreinn), and Stefansson, K. (K.)

Abstract

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.

Published
2018
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3. Rare and Common Variants Conferring Risk of Tooth Agenesis

Author

Jonsson, L, Magnusson, TE, Thordarson, A, Jonsson, T, Geller, F, Feenstra, B, Melbye, M, Nohr, EA, Vucic, Strahinja, Dhamo, Bruna, Rivadeneira, Fernando, Ongkosuwito, Edwin, Wolvius, Eppo, Leslie, EJ, Marazita, ML, Howe, BJ, Uribe, LMM, Alonso, I, Santos, M, Pinho, T, Jonsson, R, Audolfsson, G, Gudmundsson, L, Nawaz, MS, Olafsson, S, Gustafsson, O, Ingason, A, Unnsteinsdottir, U, Bjornsdottir, G, Walters, GB, Zervas, M, Oddsson, A, Gudbjartsson, DF, Steinberg, S, Stefansson, H, Stefansson, K, Jonsson, L, Magnusson, TE, Thordarson, A, Jonsson, T, Geller, F, Feenstra, B, Melbye, M, Nohr, EA, Vucic, Strahinja, Dhamo, Bruna, Rivadeneira, Fernando, Ongkosuwito, Edwin, Wolvius, Eppo, Leslie, EJ, Marazita, ML, Howe, BJ, Uribe, LMM, Alonso, I, Santos, M, Pinho, T, Jonsson, R, Audolfsson, G, Gudmundsson, L, Nawaz, MS, Olafsson, S, Gustafsson, O, Ingason, A, Unnsteinsdottir, U, Bjornsdottir, G, Walters, GB, Zervas, M, Oddsson, A, Gudbjartsson, DF, Steinberg, S, Stefansson, H, and Stefansson, K

Published
2018

5. Review article: effects of the 5-HT3 receptor antagonist alosetron on neuromuscular transmission in canine and human intestinal muscle.

Author

Audolfsson, G., Bayguinov, O., Yamamoto, T., Somogyi, G. T., Schraut, W. H., Sanders, K. M., and Bauer, A. J.

Subjects
*IRRITABLE colon, *THERAPEUTICS, *INTESTINAL diseases, *CONSTIPATION, *LOPERAMIDE, *MUSCLE relaxants, *MENTAL depression
Abstract

Background: Currently, therapeutic treatments for irritable bowel syndrome fail to produce significant clinical results. We hypothesized that alosetron, a selective 5-HT3 antagonist, may provide symptomatic relief in irritable bowel syndrome patients through a decrease in the amplitude of gastrointestinal contractions. Aim: To determine the in vitro effect of alosetron on neuromuscular transmission in the canine and human jejunal and colonic muscularis externa. Results: Alosetron diminished electrical field-stimulated (EFS) contractions recorded from muscles of the canine and human small and large intestines. Mechanistically, the diminished EFS response could be explained by the ability of alosetron to decrease the fractional release of 14C-choline radiolabelled acetylcholine evoked by EFS from human jejunal muscle. The inhibition of EFS contractions was not limited to atropine-sensitive events, as non-cholinergic excitatory EFS evoked contractions were also inhibited. Additionally, alosetron at high concentrations (> 30 μM) directly altered bethanechol stimulated contractions. Conclusion: Caution must be used in the interpretation of these data because significant alterations in EFS-induced contractions were only observed with large pharmacological concentrations of alosetron, and the response was not selective for cholinergically-mediated excitatory neuromuscular transmission. [ABSTRACT FROM AUTHOR]

Published
1999
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6. [Long term effects of burn injury on health-related quality of life of adult burn survivors in Iceland: a descriptive cross-sectional study and validation of the Icelandic version of the Burn Specific Health Scale-Brief (BSHS-B)].

Author

Baldursdottir L, Zoega S, Audolfsson G, Fridriksdottir V, Sigurjonsson SY, and Ingadottir B

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Cross-Sectional Studies, Health Status, Humans, Iceland epidemiology, Male, Middle Aged, Survivors, Young Adult, Burns diagnosis, Burns epidemiology, Burns therapy, Quality of Life
Abstract

Objectives: The aim of the study was to assess the long-term effects of burn injury on the health-related quality of life of adult burn survivors in Iceland and to validate the translated Icelandic version of the Burn Specific Health Scale-Brief (BSHS-B)., Materials and Methods: The participants of this descriptive cross-sectional study were all burn survivors, 18 years or older, admitted to hospital for 24 hours or more because of skin burn during a 15 years period (N=196). They completed questionnaire about their health (BSHS-B), health related quality of life (EQ-5D-5) and additional questions on burn-related symptoms and their burn experience., Results: Response rate was 34% (N=66). Men were 77%, mean age 45.7 years (sf=18.3 and range 18-82 years), mean age when burned was 34.0 (sf=20,1, range 1-75), median time from burn accident was 11.5 years (range 1-44 years) and 32% had been burned when under 18 years of age. Burn-specific health was 4.4-4.0 (median) and health on the EQ5D-5vas scale was 80 (median, range 10-100). Those who lost a body part or had skin transplantation had more negative body image and needed more selfcare than others (p<). A significant proportion of participants reported physical and psychosocial symptoms such as itch (48%), persistent pain (37%), anxiety/depression (29%) and negative self-image (37%). Majority (67%) believed they did not get enough information, follow-up, or support after discharge from hospital. The Icelandic version of the Burn Specific Health Scale-Brief (BSHS-B) was reliable, but more research is needed to establish its validity., Conclusion: These findings suggest that most Icelandic burn survivors report acceptable health and health-related quality of life. The study identified a subgroup of survivors that experience persistent physical and psychosocial symptoms. Team approach with holistic support after discharge, for a prolonged period of time aiming at preventing physical and psychiatric morbidity, is recommended.

Published
2021
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