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  • 1.
    Falk Kieri, Catarina
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi.
    Bergendal, Birgitta
    Lind, Lisbet K
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Medicinsk och klinisk genetik.
    Schmitt-Egenolf, Marcus
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Dermatologi och venereologi.
    Stecksén-Blicks, Christina
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi.
    EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation2014Ingår i: BMC Medical Genetics, E-ISSN 1471-2350, Vol. 15, s. 57-Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    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.

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  • 2. Falk Kieri, Catarina
    et al.
    Twetman, Svante
    Stecksén-Blicks, Christina
    Umeå universitet, Medicinsk fakultet, Odontologi. Umeå universitet, Medicinsk fakultet, Odontologi, Pedodonti.
    Use of radiography in public dental care for children and adolescents in northern Sweden.2009Ingår i: Swedish Dental Journal, ISSN 0347-9994, Vol. 33, nr 3, s. 141-8Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The primary aims were to investigate the total number of radiographs and the reason for dental radiography in children and adolescents in the Public Dental Health Service. Secondary aims were to study the influence of caries experience and orthodontic treatment on the number of radiographs. For this retrospective study, 544 adolescents regularly attending three Public Dental Health clinics in the county of Västerbotten, northern Sweden were selected. The number of radiographs exposed each year from 3 to 19 years of age was registered. Information on reason for the radiographic examination was extracted from dental records as well as the caries experience at 19 years of age. The attrition rate was 7% due to incomplete data. The total mean number of radiographs exposed was 23+/-6 of which 1+/-2 were extra-oral radiographs. Bitewing radiographs for caries registration constituted 87% of the intra-oral radiographs with a mean number of 19+/-4 exposures. There was a statistically significant difference (p<0.01) between subjects with caries experience (20+/-4) and those with no caries (16+/-4). No gender-related differences were displayed. During preschool ages, bitewing radiographs were taken in less than 10% of the children. Children treated at specialist clinics in orthodontics displayed higher number of radiographic examinations than non-referred children (p<0.01). CONCLUSION: A mean of 23 radiographs were exposed and bitewings for caries detection were the most common radiographic examination. Fewer bitewing radiographs were exposed in caries-free subjects over time but its use during the preschool ages was low. Orthodontics treatment increased the frequency of radiography significantly.

  • 3.
    Stecksen-Blicks, Christina
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi, Pedodonti.
    Hasslöf, Pamela
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi, Pedodonti.
    Kieri, Catarina
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi, Pedodonti.
    Widman, Kjerstin
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi, Pedodonti.
    Caries and background factors in Swedish 4-year-old children with special reference to immigrant status2014Ingår i: Acta Odontologica Scandinavica, ISSN 0001-6357, E-ISSN 1502-3850, Vol. 72, nr 8, s. 852-858Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Objective. This study assesses the prevalence of caries and some background factors in 4-year-old children in the city of Umse, northern Sweden, and compares this with data from earlier studies to reveal changes over time. Materials and methods. Children from the catchment areas of three Public Dental Health Service clinics in Umea (n = 224) born during the third quarter of 2008 were invited to undergo a clinical dental examination. Decayed surfaces (including both dentine and enamel, except for enamel lesions on buccal and lingual surfaces), missing and filled surfaces (dmfs) were recorded using the same methods and criteria as in a series of earlier studies performed between 1980-2007. Background data were collected in a case-history and a questionnaire. Results. The proportion of children with caries significantly decreased from 2007 (38%) to 2012 (22%) (p < 0.05). In addition, the distribution of dmfs differed significantly between these years (p < 0.05). More immigrant children had caries (42%) than non-immigrant children (15%) (p < 0.05). For children with caries, there were no significant changes in the distribution of dmfs between 1980-2012 (p > 0.05). An immigrant background was associated with a lower frequency of tooth brushing and a higher intake of ice cream, sweets and chocolate drinks (p < 0.05). Conclusion. Although the proportion of children with caries declined between 2007-2012, this decline was limited to non-immigrant children. Since 1980 the distribution of dmfs remained unchanged among children with caries. More research on interventions for changing oral health behaviours is needed, specifically for immigrant children.

  • 4.
    Stecksén-Blicks, Christina
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi.
    Falk Kieri, Catharina
    Umeå universitet, Medicinska fakulteten, Institutionen för odontologi.
    Schmitt-Egenolf, Marcus
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Dermatologi och venereologi.
    Hägg, David
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Dermatologi och venereologi.
    Hair shaft structures in EDAR induced ectodermal dysplasia2015Ingår i: BMC Medical Genetics, E-ISSN 1471-2350, Vol. 16, artikel-id 79Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia with defects in ectodermal appendage development including teeth, skin, exocrine glands and hair. Hair defects are sparsely described in genetically defined samples. The aim of this study was to investigate hair structures in three families with a heterozygous c.1072C > T mutation in the EDAR gene using scanning electron microscopy.

    Methods: Three Swedish families, where some members had a known c.1072C > T mutation in the EDAR gene with an autosomal dominant inheritance (AD) were included (n = 37) of which 17 carried the mutation and 20 did not. Thirty-two age and gender matched not related individuals served as a reference group. Confirmation of the c.1072C > T mutation in the EDAR gene was performed by genomic sequencing. Hairs were subjected to blinded scanning electron microscopy examination and hair defects were categorized and scored.

    Results: The minimum and maximum diameters of hairs were lower in the mutation group compared to the reference group. Subjects in the mutation group had to greater extent deep deformations in hair shafts compared to the non-mutation group and the reference group (p < 0.001).

    Conclusions: Individuals with a c.1072C > T mutation in the EDAR-gene displayed more hair shaft deformations confirming the role of EDAR for human hair follicle development and postnatal hair follicle cycling.

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