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Klar J.,Science for Life Laboratory and Rudbeck Laboratory | Blomstrand P.,Ryhov County Hospital | Brunmark C.,Astrazeneca | Badhai J.,Science for Life Laboratory and Rudbeck Laboratory | And 4 more authors.
Journal of Medical Genetics | Year: 2011

Background Genetic factors influencing lung function may predispose to chronic obstructive pulmonary disease (COPD). The fibroblast growth factor 10 (FGF10) signalling pathway is critical for lung development and lung epithelial renewal. The hypothesis behind this study was that constitutive FGF10 insufficiency may lead to pulmonary disorder. Therefore investigation of the pulmonary functions of patients heterozygous for loss of function mutations in the FGF10 gene was performed. Methods The spirometric measures of lung function from patients and non-carrier siblings were compared and both groups were related to matched reference data for normal human lung function. Results The patients show a significant decrease in lung function parameters when compared to control values. The average FEV1/IVC quota (FEV1%) for the patients is 0.65 (80% of predicted) and reversibility test using Terbutalin resulted in a 3.7% increase in FEV1. Patients with FGF10 haploinsufficiency have lung function parameters indicating COPD. A modest response to Terbutalin confirms an irreversible obstructive lung disease. Conclusion These findings support the idea that genetic variants affecting the FGF10 signalling pathway are important determinants of lung function that may ultimately contribute to COPD. Specifically, the results show that FGF10 haploinsufficiency affects lung function measures providing a model for a dosage sensitive effect of FGF10 in the development of COPD. Source


Faulks D.,CHU Clermont Ferrand | Faulks D.,Clermont University | Norderyd J.,The Institute for Postgraduate Dental Education | Norderyd J.,University Institute of Health Sciences | And 6 more authors.
PLoS ONE | Year: 2013

Children in dentistry are traditionally described in terms of medical diagnosis and prevalence of oral disease. This approach gives little information regarding a child's capacity to maintain oral health or regarding the social determinants of oral health. The biopsychosocial approach, embodied in the International Classification of Functioning, Disability and Health - Child and Youth version (ICF-CY) (WHO), provides a wider picture of a child's real-life experience, but practical tools for the application of this model are lacking. This article describes the preliminary empirical study necessary for development of such a tool - an ICF-CY Core Set for Oral Health. An ICF-CY questionnaire was used to identify the medical, functional, social and environmental context of 218 children and adolescents referred to special care or paediatric dental services in France, Sweden, Argentina and Ireland (mean age 8 years ±3.6yrs). International Classification of Disease (ICD-10) diagnoses included disorders of the nervous system (26.1%), Down syndrome (22.0%), mental retardation (17.0%), autistic disorders (16.1%), and dental anxiety alone (11.0%). The most frequently impaired items in the ICF Body functions domain were 'Intellectual functions', 'High-level cognitive functions', and 'Attention functions'. In the Activities and Participation domain, participation restriction was frequently reported for 25 items including 'Handling stress', 'Caring for body parts', 'Looking after one's health' and 'Speaking'. In the Environment domain, facilitating items included 'Support of friends', 'Attitude of friends' and 'Support of immediate family'. One item was reported as an environmental barrier - 'Societal attitudes'. The ICF-CY can be used to highlight common profiles of functioning, activities, participation and environment shared by children in relation to oral health, despite widely differing medical, social and geographical contexts. The results of this empirical study might be used to develop an ICF-CY Core Set for Oral Health - a holistic but practical tool for clinical and epidemiological use. © 2013 Faulks et al. Source


Josefsson E.,The Institute for Postgraduate Dental Education
Swedish dental journal. Supplement | Year: 2010

During the last three decades there has been an increased influx of refugees and immigrants into Scandinavia. The overall aim of this thesis was primarily to improve our knowledge of malocclusion and orthodontic treatment need, both normative and self-perceived, in adolescents of varying geographic origin. A further aim was to determine whether any differences with respect to perception of general appearance and psychosocial well-being were related to geographic origin. Papers I and II concerned self perceived and normative orthodontic treatment need. About 500 12-13 year-old subjects, stratified into different groups: A-Sweden, B-Eastern/Southeastern Europe, C-Asia and D-other countries, answered a questionnaire and underwent clinical examination by the author. In paper III the association between the two variables in papers I and II was investigated. Paper IV was a follow up study, at 18-19 years of age, of the relationship between geographic origin and prevalence of malocclusion, self-perceived treatment need, temporomandibular symptoms and psychosocial wellbeing. In Paper V a qualitative study of 19-20-year-old subjects was conducted, to identify the strategies they had adopted to handle the issue of persisting poor dental aesthetics. The main findings were that at 12-13 years of age, immigrant subjects had a lower perceived orthodontic treatment need than subjects of Swedish background. Girls of Swedish background had the highest self-perceived treatment need, whilst girls of non-Swedish background were most concerned that fixed appliance therapy would be painful. In a few of the clinical variables measured at 12-13 years of age, the Swedish group exhibited the greatest space deficiency and irregularity in both the maxillary and mandibular anterior segments and greater overjet, compared to the Eastern/Southeastern European and Asian groups. The clinical implications were negligible. The orthodontic treatment need according to "Index of Orthodontic Treatment Need--Dental Health Component" (IOTN-DHC) grades 4 and 5, ranged from 30 to 40 per cent, without any inter-group differences. There were strong associations between subjects perceiving a need for orthodontic treatment and IOTN-DHC grades 4 and 5, anterior crossbite and avoiding smiling because they were self-conscious about their teeth. At the age of 18-19 years, the frequency of malocclusion was similar in all groups. Subjects of Asian origin had a higher self-perceived orthodontic treatment need than their Swedish counterparts and a higher frequency of headache than those of Eastern/Southeastern European origin. Psychological wellbeing was reduced in nearly one quarter of the sample, more frequently in girls than boys. No association was found between self-perceived orthodontic treatment need and psychological wellbeing. The theory "Being under the pressure of social norms" was generated in Paper V, and it can be applied to improve our understanding of young adults who have adjusted to living with poor dental aesthetics and also aid to identify those who are not as well-adjusted and would probably benefit from treatment. Undisclosed dental fear is an important barrier to acceptance of orthodontic treatment in early adolescence. Despite demographic changes due to immigration, no major change in the prevalence of malocclusion and normative orthodontic treatment need has been disclosed. This does not apply to adolescents and adults who immigrated at an older age. Source


Jacobsson B.,Health Science University | Koch G.,The Institute for Postgraduate Dental Education | Magnusson T.,Health Science University | Hugoson A.,Health Science University
European Archives of Paediatric Dentistry | Year: 2011

Aim: To investigate oral health status and coherent determinants in children with foreign backgrounds compared with children with a Swedish background, over a ten year period. Design and Methods: In 1993 and 2003, cross-sectional studies with random samples of individuals in the age groups 3, 5, 10 and 15 years were performed in Jönköping, Sweden. All the individuals were personally invited to a clinical and radiographic examination of their oral health status. They were also asked about their attitudes to and knowledge of teeth and oral health care habits. The final study sample comprised 739 children and adolescents, 154 with a foreign background (F cohort) and 585 with a Swedish background (S cohort). Results: In both 1993 and 2003, more 3- and 5 year olds in the S cohort were caries-free compared with the F cohort. In 1993, dfs was higher among 3- and 5 year olds in the F cohort (p<0.01) compared with the S cohort. In 2003, dfs/DFS was statistically significantly higher in all age groups among children and adolescents in the F cohort compared with the S cohort. When it came to proximal tooth surfaces, the percentages of individuals who were caries-free, with initial carious lesions, with manifest carious lesions and with restorations among 10-year-olds in the F cohort were 55%, 23%, 4% and 18% in 1993. The corresponding figures for the S cohort were 69%, 20%, 6% and 5% respectively. In 2003, the values for the F cohort were 54%, 29%, 4% and 13% compared with 82%, 12%, 1% and 5% in the S cohort. In 2003, the odds of being exposed to dental caries among 10- and 15-yearolds in the F cohort, adjusted for gender and age, were more than six times higher (OR=6.3, 95% CI:2.51-15.61; p<0.001) compared with the S cohort. Conclusions: There has been a decline in caries prevalence between 1993 and 2003 in all age groups apart from 3-year-olds. However, the improvement in dfs/DFS was greater in the S cohort compared with the F cohort in all age groups. The difference between the F and S cohorts in terms of dfs/ DFS was larger in 2003 compared with 10 years earlier. In 2003, the odds ratio for being exposed to dental caries was almost six times higher for 10- and 15-year-olds with two foreign-born parents compared with their Swedish counterparts. Source


Falk Kieri C.,Umea University | Bergendal B.,The Institute for Postgraduate Dental Education | Lind L.K.,Umea University | Schmitt-Egenolf M.,Umea University | Stecksen-Blicks C.,Umea University
BMC Medical Genetics | Year: 2014

Background: Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function.Methods: Individuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the EDAR gene with an autosomal dominant inheritance (AD), were included in a clinical investigation on oral signs and symptoms and self-reported symptoms from other ectodermal structures (n = 37). Confirmation of the c.1072C > T mutation in the EDAR gene were performed by genomic sequencing. Orofacial function was evaluated with NOT-S.Results: The mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4-17) in the mutation group and 0.1 ± 0.3, (range 0-1) in the non-mutation group (p < 0.01). All individuals with the mutation were missing the maxillary lateral incisors and one or more of the mandibular incisors; and 81.3% were missing all four. Stimulated saliva secretion was 0.9 ± 0.5 ml/min in the mutation group vs 1.7 ± 0.6 ml/min in the non-mutation group (p < 0.01). Reduced ability to sweat was reported by 82% in the mutation group and by 20% in the non-mutation group (p < 0.01). The mean NOT-S score was 3.0 ± 1.9 (range 0-6) in the mutation group and 1.5 ± 1.1 (range 0-5) in the non-mutation group (p < 0.01). Lisping was present in 56% of individuals in the mutation group.Conclusions: Individuals with a c.1072C > T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. They therefore have a need for special attention in dental care, both with reference to tooth agenesis and low salivary secretion with an increased risk for caries. Sweating problems were the most frequently reported symptom from other ectodermal structures. © 2014 Falk Kieri et al.; licensee BioMed Central Ltd. Source

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