| 1. |
- Jemt, Torsten, 1950, et al.
(författare)
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Implant-supported welded titanium frameworks in the edentulous maxilla: a 5-year prospective multicenter study.
- 2002
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Ingår i: The International journal of prosthodontics. - 0893-2174. ; 15:6, s. 544-8
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: This study evaluated the 5-year clinical and radiographic performance of fixed implant-supported maxillary prostheses with either welded titanium or conventional cast-gold alloy frameworks. MATERIALS AND METHODS: Fifty-eight consecutive patients were provided with 349 osseointegrated Brånemark system implants in the edentulous maxilla at six different implant centers. Twenty-eight of the patients received, at random, prostheses with laser-welded titanium frameworks, and the remaining 30 patients had prostheses with conventional cast-gold alloy frameworks. Clinical and radiographic data were collected for 5 years after prosthesis placement. RESULTS: The titanium and cast-gold framework groups exhibited similar cumulative survival and success rates (CSR). The 5-year implant CSR from time of placement was 91.4% and 94.0%, respectively, and from prosthesis delivery the rate was 94.9% and 95.6%, respectively. The corresponding 5-year prosthesis CSRs were 96.4% and 93.3%. One patient from each group lost all the implants and turned to complete dentures within the first year of function. Another patient with a cast-gold framework had the prosthesis replaced after 4 years, basically because of problems with the veneering material. No fractures of implant components were observed during the follow-up period. Bone loss was on average 0.59 mm (SD 0.97 mm) during 5 years, with no statistical difference between the two groups. CONCLUSION: Welded titanium frameworks presented a similar favorable clinical performance as conventional cast-gold alloy frameworks in fixed implant-supported prostheses in the edentulous maxilla after 5 years in function. Implant failures were concentrated in only a few patients in each study group.
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| 2. |
- Jemt, Torsten, 1950, et al.
(författare)
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Laser-welded titanium frameworks supported by implants in the edentulous maxilla: a 2-year prospective multicenter study.
- 1998
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Ingår i: The International journal of prosthodontics. - 0893-2174. ; 11:6, s. 551-7
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: The aim of this study was to evaluate the clinical and radiographic performance of patients who received implants and fixed prostheses with laser-welded titanium frameworks. MATERIALS AND METHODS: Fifty-eight consecutive patients were treated with 349 osseointegrated implants ad modum Brånemark in the edentulous maxilla at 6 implant centers. The patients were randomly arranged into 2 groups at the time of final impression. Twenty-eight patients received laser-welded titanium frameworks and 30 patients received conventional cast frameworks. Clinical and radiographic data were collected for 2 years in function. RESULTS: The 2 groups of patients showed similar results. The 2-year overall cumulative implant survival rate from the time of implant placement and prosthesis insertion was 93.7% and 96.2%, respectively. The corresponding cumulative survival rate for prostheses was 96.6%. Two patients, 1 from each group, failed completely and resumed using conventional complete dentures. The only obvious factor that could possibly be related to the 2 complete failures was a smoking habit. However, it was not possible to significantly correlate implant failures to smoking habits in this study. No fractures were observed in the frameworks or implant components, and both groups experienced the same frequency of resin veneering material fractures. The overall average marginal bone loss was 0.4 mm (SD 0.8 mm). CONCLUSION: Patients treated with implant-supported prostheses fabricated with laser-welded titanium frameworks in the edentulous maxilla presented comparable results to patients with conventional cast frameworks after 2 years in function.
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| 3. |
- 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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| 4. |
- Bakke, Merete, et al.
(författare)
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Development and evaluation of a comprehensive screening for orofacial dysfunction.
- 2007
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Ingår i: Swedish dental journal. - 0347-9994. ; 31:2, s. 75-84
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Tidskriftsartikel (refereegranskat)abstract
- The aim was to develop a comprehensive screening instrument for evaluation of orofacial dysfunction that was easy to perform for different health professionals without special equipment. The Nordic Orofacial Test--Screening (NOT-S), consisting of a structured interview and clinical examination,was developed with a picture manual illustrating the different tasks in the examination. It was first tested in a Swedish version, and later translated to other Nordic languages, and to English. The interview reflected six domains, (I) Sensory function, (II) Breathing, (III) Habits, (IV) Chewing and swallowing, (V) Drooling, and (VI) Dryness of the mouth, and the examination included six domains representing (1) The face at rest, and tasks regarding (2) Nose breathing, (3) Facial expression, (4) Masticatory muscle and jaw function, (5) Oral motor function, and (6) Speech. One or more "yes" for impairment in a domain resulted in one point (maximum NOT-S score 12 points). The mean NOT-S score (+/- SD) in 120 patients (3-86 yr), referred to five centers for specialized dental care or speech and language pathology in Sweden, Norway and Denmark, was 4.1 +/- 2.6, and 0.4 +/- 0.6 in 60 control subjects (3-78 yr). The screening was easy to administer and the time spent 5-13 min. The scores from the clinic-referred sample differed significantly from the controls, and the sensitivity of the screening was 0.96 and specificity 0.63. Repeated evaluations of videotapes of 200 patients by 3 examiners, speech-language pathologists and dentists, with at least two-week intervals, showed inter- and intraexaminer agreement on the points given in the domains at respectively 83% and 92-95% which increased after recalibration to 85% and 95-99%. Kappa values for interexaminer agreement on the NOT-S scores were 0.42-0.44 (i.e. fair), and the method error was 5.3%. To conclude, NOT-S gave a reliable and valid screening for orofacial dysfunction.
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| 5. |
- 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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| 6. |
- Bergendal, Birgitta, 1947-, et al.
(författare)
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Implant failure in young children with ectodermal dysplasia : a retrospective evaluation of use and outcome of dental implant treatment in children in Sweden
- 2008
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Ingår i: International Journal of Oral & Maxillofacial Implants. - Lombard, Illinois, USA : Quintessence Publishing Co, Inc. - 0882-2786 .- 1942-4434. ; 23:3, s. 520-524
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: This study surveyed dental implant treatment in children up to age 16 years in Sweden between 1985 and 2005, with special reference to young children with ectodermal dysplasia (ED) and anodontia in the lower jaw. Materials and Methods: A questionnaire was sent to Swedish specialist clinics in oral and maxillofacial surgery and prosthetic dentistry. Also, the teams who had treated children with ED were asked to submit their records for these children for a discussion on reasons for implant failure. Results: Six out of 30 specialist centers (20%) in Sweden had treated 26 children with dental implants between 1985 and 2005. Twenty-one patients had received 33 implants to replace teeth missing from nonsyndromic agenesis or trauma at ages 14 or 15 years; 2 (6.1%) of these implants were lost. Five children with ED received 14 implants at 5 to 12 years of age; 9 (64.3%) of these implants were lost before loading. Conclusions: Dental implant placement has been a rarely used treatment modality in Swedish children less than 16 years old in the last 20 years. The failure rate in children treated because of tooth agenesis was only slightly higher than that reported for adult individuals, whereas in young children with ED and anodontia in the mandible, implants seemed to present special challenges, and the failure rate was very high. The small jaw size and peroperative conditions, rather than ED per se, were thought to be the main risk factors. Centralizing implant operations in young children with ED and monitoring outcomes in implant registers are strongly advocated. Int J Oral Maxillofacial Implants 2008;23:520–524
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| 7. |
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| 8. |
- 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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| 9. |
- Bergendal, Birgitta, 1947-
(författare)
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Oligodontia and ectodermal dysplasia : on signs, symptoms, genetics and outcomes of dental treatment
- 2010
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Ingår i: Swedish dental journal. Supplement. - Umeå : Umeå universitet. - 0348-6672. ; :205, s. 13-78
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The general aim of this thesis was to broaden our knowledge of the signs and symptoms, genetics, and outcomes of dental implant treatment in individuals with oligodontia or ectodermal dysplasia. Article I is a population-based study in three Swedish counties of 162 individuals with oligodontia, which was a prevalence of 0.09%. The intent was to explore ways for dentists to assess symptoms from other ectodermal structures than teeth through a clinical interview and chair-side analyses. Thirty per cent had low salivary secretion rates while only 11% with no known syndrome reported symptoms from hair, nails, or sweat glands. These are, together with teeth, the ectodermal structures on which it is proposed that a clinical diagnosis of ectodermal dysplasia (ED) be based. Article II screened 93 probands with oligodontia for mutations in six genes known to cause oligodontia and hypohidrotic ED. Sequence alterations predicted to be damaging or potentially damaging were revealed in the AXIN2, MSX1, PAX9, and EDARADD genes in 14 (15%) of the probands. All mutations but one were novel. For the first time, EDARADD mutations were shown to cause isolated oligodontia. No individual who had reported ectodermal symptoms from hair, nails, or sweat glands had a mutation. Article III assessed orofacial function in individuals with different types of EDs using the Nordic Orofacial Test-Screening (NOT-S) protocol. Individuals with ED scored significantly higher in orofacial dysfunction than a healthy reference sample, especially in the Chewing and swallowing, Dryness of the mouth, and Speech domains. Article IV surveyed treatment outcome of dental implants in Swedish children up to age 16 years. In a 20-year period, only 26 patients were treated, 5 of whom had hypohidrotic ED and anodontia of the mandible. Individuals with ED had 64% failed implants compared to 6% among subjects with teeth missing due to trauma or agenesis. The main conclusions of this thesis were that (i) a check of whether one or more permanent incisors are missing will identify 65% of individuals with oligodontia and 84% of individuals missing nine teeth or more, (ii) evaluation of salivary secretion is indicated in children with oligodontia, (iii) a majority of individuals with oligodontia did not report other abnormal ectodermal organ function besides teeth, (iv) no clinical indicator discriminated between individuals with and without mutations in the tested genes, and more unidentified genes are involved in tooth morphogenesis, (v) EDARADD mutations are associated with isolated oligodontia, (vi) evaluation of orofacial function is indicated in individuals with ED, and many individuals with ED would benefit from orofacial skills training, (vii) dental implant placement is a rare treatment modality in children, (viii) individuals with hypohidrotic ED seem to present special challenges due to structural as well as direct effects of the mutations on bone, which seem to compromise osseointegration, (ix) central registers on signs and symptoms in individuals with rare disorders would help establish prevalences of various diagnoses and define treatment needs, and (x) quality registers for monitoring treatment outcomes of dental implants would promote early detection of risks and side-effects in individuals with rare disorders.
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| 10. |
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| 11. |
- Bergendal, Birgitta, et al.
(författare)
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Orofacial function and monitoring of oral care in amyotrophic lateral sclerosis
- 2017
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Ingår i: Acta Odontologica Scandinavica. - : Taylor & Francis. - 0001-6357 .- 1502-3850. ; 75:3, s. 179-185
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The aim was to assess orofacial function and monitor oral care in patients with amyotrophic lateral sclerosis (ALS) to maintain oral comfort and oral health.MATERIALS AND METHODS: A case series of 14 patients newly diagnosed with ALS accepted to participate in a quality improvement project. After initial examinations, baseline oral conditions were obtained and the patients were seen every 3 months. Nordic Orofacial Test-Screening (NOT-S) was used for evaluation of orofacial function.RESULTS: Patients were grouped according to initial symptoms in a bulbar group and a spinal group with eight and six patients, respectively. The mean age at diagnosis was 62.8 years. All were dentate with a mean of 26.7 natural teeth. Most patients had very good oral and dental conditions. As expected, orofacial functions were differently affected in the two groups; at initial NOT-S registration, the mean total score was 5.6 (range 3-8 domains) in the bulbar group and 0.7 (0-2 domains) in the spinal group. At final registration, the corresponding figures were 6.1 and 3.2. Oral and dental aids were introduced according to need.CONCLUSIONS: In the bulbar group, several orofacial functions became impaired at an early stage of disease development, and at final registrations many vital orofacial functions were severely compromised. The spinal group was less severely affected orally. However, all individuals irrespective of type of initial symptoms needed assistance in performing oral hygiene measures in the latter part of the disease period. Good oral health and oral comfort could be maintained in all participants and no other dental treatment was needed.
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| 12. |
- Bergendal, Birgitta, et al.
(författare)
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Profiles of orofacial dysfunction in different diagnostic groups using the Nordic Orofacial Test (NOT-S)-A review
- 2014
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Ingår i: Acta Odontologica Scandinavica. - : Informa Healthcare. - 0001-6357 .- 1502-3850. ; 72:8, s. 578-584
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Forskningsöversikt (refereegranskat)abstract
- Objective. The Nordic Orofacial Test-Screening (NOT-S) was developed as a comprehensive method to assess orofacial function. Results from the screening protocol have been presented in 11 international publications to date. This study reviewed these publications in order to compile NOT-S screening data and create profiles of orofacial dysfunction that characterize various age groups and disorders. Materials and methods. NOT-S results of nine reports meeting the inclusion criteria were reviewed. Seven of these studies not only provided data on the mean and range of total NOT-S scores, but also on the most common domains of orofacial dysfunction (highest rate of individuals with dysfunction scores), allowing the construction of orofacial dysfunction profiles based on the prevalence of dysfunction in each domain of NOT-S. Results. The compiled data comprised 669 individuals, which included healthy control subjects (n = 333) and various patient groups (n = 336). All studies reported differences between individuals with diagnosed disorders and healthy control subjects. The NOT-S data could measure treatment effects and provided dysfunction profiles characterizing the patterns of orofacial dysfunction in various diagnoses. Conclusions. This review corroborates previous results that the NOT-S differentiates well between patients and healthy controls and can also show changes in individuals after treatment. NOT-S could be used as a standard instrument to assess orofacial dysfunction, evaluate the outcomes of oral habilitation and rehabilitation and improve comparability in clinical practice and research.
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| 13. |
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| 14. |
- Entesarian, Miriam, et al.
(författare)
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Mutations in the gene encoding fibroblast growth factor 10 are associated with
- 2005
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Ingår i: Nat Genet. - 1061-4036. ; 37:2, s. 125-7
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Tidskriftsartikel (refereegranskat)abstract
- Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG.
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| 15. |
- Entesarian, Miriam, et al.
(författare)
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Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
- 2005
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Ingår i: Nat Genet. ; 37:2, s. 125-7
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Tidskriftsartikel (refereegranskat)abstract
- Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG.
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| 16. |
- Falk Kieri, Catarina, et al.
(författare)
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EDAR-induced hypohidrotic ectodermal dysplasia : a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation
- 2014
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Ingår i: BMC Medical Genetics. - : BioMed Central. - 1471-2350. ; 15, s. 57-
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Tidskriftsartikel (refereegranskat)abstract
- 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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| 17. |
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| 18. |
- Klar, Joakim, et al.
(författare)
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Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease
- 2011
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Ingår i: Journal of Medical Genetics. - : BMJ Publishing Group Ltd. - 0022-2593 .- 1468-6244. ; 48:10, s. 705-709
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 19. |
- McAllister, Anita, 1955-, et al.
(författare)
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Applications and results using the Nordic Orofacial Test–Screening protocol
- 2011
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Konferensbidrag (refereegranskat)abstract
- Aim: Orofacial function includes a multitude of actions, some of them vital, such as breathing, chewing and swallowing, and also acts as the basis for social interaction in terms of speech, emotional communication, facial expression and appearance. Impaired orofacial function is a common feature in many inherited disorders or may be acquired as a consequence of disease and trauma. The Nordic Orofacial Test–Screening (NOT-S) is a comprehensive method for screening of orofacial function developed by a Scandinavian network of dentists and speech and language pathologists. NOT-S comprises evaluation of twelwe domains of orofacial function. They are assessed from a structured interview and a clinical examination with a picture manual illustrating the different tasks in the examination. A method study of 120 individuals with chronic disease or disability compared to 60 healthy controls showed good intra- and interexaminer agreement. The aim was to present current applications and results from publications on the use of NOT-S. Materials and Methods: Beside the method study published in 2007 to date four studies has been published. One was a study in individuals with Parkinson´s disease (n=15), two were studies in individuals with rare disorders; Ectodermal dysplasia (n=46), and Prader-Willi Syndrome (n=45), and one was a study evaluating surgical treatment in children with tonsillar hyperthophy (n=67). In order o visualize to what degree the domains of orofacial function are affected in different conditions, connected plots were made from the mean NOT-S scores for the twelwe domains of NOT-S, here called dysfunction profiles. Results: The groups with different diagnoses showed specific dysfunction profiles indicating patterns of domains with impaired orofacial function. The use of NOT-S to assess orofacial function before and after surgery in children with tonsillar hypertrophy showed that the method can also be used to evaluate interventions. Conclusions: Screening with NOT-S proved to be a quick and reliable way of assessing orofacial function. NOT-S discriminated between groups with different diagnoses and also in evaluation of treatment. The results indicate that NOT-S has good reliability and discriminant validity.
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| 20. |
- Pettersson, Maria, et al.
(författare)
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Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
- 2017
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Ingår i: American Journal of Medical Genetics. Part A. - : John Wiley & Sons. - 1552-4825 .- 1552-4833. ; 173:5, s. 1396-1399
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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