Change search
Refine search result
1 - 2 of 2
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Rows per page
  • 5
  • 10
  • 20
  • 50
  • 100
  • 250
Sort
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
Select
The maximal number of hits you can export is 250. When you want to export more records please use the Create feeds function.
  • 1.
    Norderyd, Johanna
    Jönköping University, School of Health and Welfare, HHJ. CHILD. Odontologiska Instutitionen i Jönköping.
    Defect root cementum of primary teeth in children with x-linked hypophosphatemia2019Conference paper (Refereed)
    Abstract [en]

    Defect root cementum of primary teeth in children with x-linked hypophosphatemia

    Norderyd J. National Oral disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden and CHILD research group, Swedish Institute for Disability Research, School of Health and Welfare, Jönköping University, Jönköping, Sweden.

    Background X-linked hypophosphatemia (XLH) is a rare disorder where low phosphate levels affect the mineralisation of bone and teeth.  The main and well-known dental complications are pulpal infections and abscesses attributed to large pulpal chambers and defective dentine. Increased risk for periodontal disease has also been described and recently, defect root cementum was suggested as a likely aetiology behind periodontal attachment loss in adults with XLH (Biosse Duplan et al 2017). However, no reports describing root cementum defects in primary teeth in children with XLH has to this date been published. The National Oral Disability Centre for Rare Disorders in Jönköping, Sweden, receives many consultations about patients where dental complications are part of a rare syndrome and XLH is one of those.  

    Aim The aim of this project was to search the National Oral Disability Centre’s consultations about XLH and retrospectively check for root cementum defects described in histological analyses of extracted primary teeth. Results Ten children with confirmed XLH were identified among the consultations to the centre from different parts of Sweden during 2004 to 2018. Five of these children had had a primary tooth sent for biopsy diagnosis. In one analysis, the oldest, the root cementum is not mentioned. The other four biopsy diagnoses describe teeth with globular dentin, typical for XLH, and they also reveal aplastic and/or hypoplastic root cementum.

    Conclusions - XLH can be added to the list of diagnoses where hypoplastic root cementum in primary teeth may be part of the syndrome.   - In addition to the well-known risk for dental abscesses due to defect dentine, children with XLH may also have an increased risk for early periodontal problems because of dysplastic root cementum.   - Preventive measures should focus both on keeping the enamel intact and on periodontal health. - Even when the XLH diagnosis is already medically and/or genetically verified, there is a value for individuals with XLH to have an extracted or lost primary or permanent tooth sent for biopsy diagnoses of dentin as well as root cementum. 

  • 2.
    Pettersson, Maria
    et al.
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Bergendal, Birgitta
    Jönköping University, School of Health and Welfare. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Norderyd, Johanna
    Jönköping University, School of Health and Welfare, HHJ. CHILD. National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
    Nilsson, Daniel
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Anderlid, Britt-Marie
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Nordgren, Ann
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Lindstrand, Anna
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
    Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity2017In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 173, no 5, p. 1396-1399Article in journal (Refereed)
    Abstract [en]

    Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5). These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal. 

1 - 2 of 2
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf