| 1. |
- Arzoo, Pakeeza Shaiq, et al.
(författare)
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WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations
- 2014
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 164:2, s. 353-359
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Tidskriftsartikel (refereegranskat)abstract
- A large proportion (>50%) of patients with isolated oligodontia were recently reported with WNT10A mutations. We have analyzed a population-based cohort of 102 individuals diagnosed with non-syndromic oligodontia and a mean of 8.2 missing teeth. The cohort included 94 families and screening of WNT10A identified that 26 probands (27.7%) had at least one WNT10A variant. When we included the MSX1, PAX9, AXIN2, EDA, EDAR, and EDARADD genes, 38.3% of probands were positive for a mutation. Biallelic WNT10A mutations were strongly associated with a larger number of missing teeth (11.09) when compared to both monoallelic WNT10 mutations (6.82) and the group without mutations in WNT10A, MSX1, PAX9, AXIN2, EDA, EDAR, or EDARADD (7.77). Genotype-phenotype analysis of individuals with WNT10A mutations showed that premolars were the most common missing teeth. Furthermore, biallelic WNT10A mutations were associated with absence of maxillary and mandibular molars as well as mandibular central incisors. Maxillary central incisors were always present. Thus, our study indicates that WNT10A mutations are associated with both the type and numbers of missing teeth. Furthermore, we show that this population-based cohort of isolated oligodontia had a considerably lower frequency of mutated WNT10A alleles and a lower mean number of missing teeth when compared to patients recruited from dental specialist centers. (c) 2013 Wiley Periodicals, Inc.
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| 2. |
- Bergendal, Birgitta, et al.
(författare)
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Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
- 2016
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Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 17
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Tidskriftsartikel (refereegranskat)abstract
- Background: The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis. Methods: In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis. Results: Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I. Conclusions: We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of biallelic WNT10A mutations of importance for diagnosis, counselling and follow-up.
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| 3. |
- Bergendal, Birgitta, et al.
(författare)
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Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes
- 2011
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Ingår i: American Journal of Medical Genetics Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 155:7, s. 1616-1622
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Tidskriftsartikel (refereegranskat)abstract
- Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.
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| 4. |
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| 5. |
- Faulks, Denise, et al.
(författare)
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Using the International Classification of Functioning, Disability and Health (ICF) to describe children referred to special care or paediatric dental services
- 2013
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Ingår i: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 8:4
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Tidskriftsartikel (refereegranskat)abstract
- 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 ± 3.6 yrs). 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.
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| 6. |
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| 7. |
- Klingberg, Gunilla, et al.
(författare)
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Ethics in pediatric dentistry
- 2017
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Ingår i: Pediatric dentistry. - : Wiley-Blackwell. - 9781118913499 ; , s. 371-376
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 8. |
- Klingberg, Gunilla, et al.
(författare)
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Etik i børnetandplejen med særligt fokus på børn med funktionsnedsættelse eller langvarig sygdom
- 2016
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Ingår i: Tandlaegebladet. - København : Tandlægeforeningen. - 0039-9353. ; 120:9, s. 800-806
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- I dag konsulteres tandplejen af flere og flere børn og unge med funktionsnedsættelse eller langvarig sygdom. Disse patienter skal principielt tiltales og varetages på samme måde som alle andre patienter; men i behandlingen af børn med funktionsnedsættelse eller sygdom opstår der nok oftere situationer og etiske dilemmaer, hvor tandlægen føler behov for at standse op, reflektere og analysere, inden hun/ han går videre med behandlingen. Autonomi, integritet og informeret samtykke er vigtige begreber i mødet med patient og forældre, og tandlægen må også indimellem være parat til at vikariere autonomi.
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| 9. |
- Klingberg, Gunilla, et al.
(författare)
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Etik i børnetandplejen med særligt fokus på børn med funktionsnedsættelse eller langvarig sygdom
- 2016
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Ingår i: Tandlægebladet. - 0039-9353. ; 120:9, s. 800-806
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Forskningsöversikt (övrigt vetenskapligt/konstnärligt)abstract
- Dental care for children with disabilities – ethical considerations All dental care demands an ethical approach, maybe even more so in child dental care. Today more children with disabilities or longterm illness come to the dentist. How these children should be met and cared for does not differ from other patients, but in dental care for children with disabilities and long-term illness it may be more likely for situations and ethical dilemmas to evolve, where the dentist must stop, reflect, and analyze before continuing with treatment. Autonomy, integrity, and informed consent are important concepts when meeting patients and parents. The dentist also has to be prepared to sometimes step in and substitute autonomy.
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| 10. |
- Mac Giolla Phadraig, Caoimhin, et al.
(författare)
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Behaviour support in dentistry: A Delphi study to agree terminology in behaviour management
- 2024
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Ingår i: Community Dentistry and Oral Epidemiology. - : John Wiley & Sons. - 0301-5661 .- 1600-0528. ; 52:4, s. 550-571
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Dental behaviour support (DBS) describes all specific techniques practiced to support patients in their experience of professional oral healthcare. DBS is roughly synonymous with behaviour management, which is an outdated concept. There is no agreed terminology to specify the techniques used to support patients who receive dental care. This lack of specificity may lead to imprecision in describing, understanding, teaching, evaluating and implementing behaviour support techniques in dentistry. Therefore, this e-Delphi study aimed to develop a list of agreed labels and descriptions of DBS techniques used in dentistry and sort them according to underlying principles of behaviour.Methods: Following a registered protocol, a modified e-Delphi study was applied over two rounds with a final consensus meeting. The threshold of consensus was set a priori at 75%. Agreed techniques were then categorized by four coders, according to behavioural learning theory, to sort techniques according to their mechanism of action.Results: The panel (n = 35) agreed on 42 DBS techniques from a total of 63 candidate labels and descriptions. Complete agreement was achieved regarding all labels and descriptions, while agreement was not achieved regarding distinctiveness for 17 techniques. In exploring underlying principles of learning, it became clear that multiple and differing principles may apply depending on the specific context and procedure in which the technique may be applied.Discussion: Experts agreed on what each DBS technique is, what label to use, and their description, but were less likely to agree on what distinguishes one technique from another. All techniques were describable but not comprehensively categorizable according to principles of learning. While objective consistency was not attained, greater clarity and consistency now exists. The resulting list of agreed terminology marks a significant foundation for future efforts towards understanding DBS techniques in research, education and clinical care.
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