| 1. |
- Lindstrand, Anna, et al.
(författare)
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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
- 2022
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Ingår i: Genetics in Medicine. - : ELSEVIER SCIENCE INC. - 1098-3600 .- 1530-0366. ; 24:11, s. 2296-2307
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines in patients with ID/NDD: genome sequencing (GS) first (N = 100), GS as a secondary test (N = 129), or chromosomal microarray (CMA) with or without FMR1 analysis (N = 421). Results: The diagnostic yield was 35% (GS -first), 26% (GS as a secondary test), and 11% (CMA/FMR1). Notably, the age of diagnosis was delayed by 1 year when GS was performed as a secondary test and the cost per diagnosed individual was 36% lower with GS first than with CMA/FMR1. Furthermore, 91% of those with a negative result after CMA/FMR1 analysis (338 individuals) have not yet been referred for additional genetic testing and remain undiagnosed. Conclusion: Our findings strongly suggest that genome analysis outperforms other testing strategies and should replace traditional CMA and FMR1 analysis as a first-line genetic test in individuals with ID/NDD. GS is a sensitive, time-and cost-effective method that results in a confirmed molecular diagnosis in 35% of all referred patients. (c) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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| 2. |
- Brodén, Joséphine, et al.
(författare)
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“Experts already have the answers". A mixed methods study on dental students’ reflections on risk assessment of root filled teeth
- 2023
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Ingår i: ESE Wladimir Adlivankine Research Prize, Education Prize and Original Research Abstracts.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Aims: Reflection on a deeper level is recognized as an important skill to learn for undergraduate students since mastering reflection can be helpful throughout their future careers. The aim with this study was to (i) examine if short structured written reflections could stimulate deep reflection among a group of dental students and (ii) explore specifically how the students reflected on clinical experience in relation to uncertainty when assessing the risk for exacerbation of apical periodontitis in root filled teeth.Methods: Short reflections were written by 52 dental students at Malmö University in 2021. All students first answered some questions associated with the risk for exacerbation of apical periodontitis in a case with a root filled tooth with a diffuse widening of the periodontal ligament space. After this, they were asked to write short reflections following prompts developed specifically to stimulate reflection. For each student, the reflections were analyzed and the level of reflection according to the 4Rs framework (Reporting/responding, Relating, Reasoning, Reconstructing) was assessed. The written content in the reflections were analyzed by a qualitative method, Systematic Text Condensation (STC). Results: Thirteen of the students (25%) reached the deepest level of reflection, Reconstructing. Sixteen students (31%), reached only the most superficial level, Report/respond. Two themes about experience and lack of experience were identified in the reflections: Theme 1 “The meaning of clinical experience” and Theme 2 “Differences and similarities”. The themes were subdivided into nine subgroups and described in more detail the relationship between experience and certainty as perceived by the students.Conclusions: A short reflection exercise stimulated deep reflection in a proportion of, but not all, dental students. The students believed that certainty comes with experience even when there is a lack of scientific evidence.
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| 3. |
- Brodén, Joséphine
(författare)
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Uncertainty in Endodontics : Strategies for Understanding and Management
- 2022
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Dentists often experience uncertainty when deciding on the most effective treatment for a particular patient. There are various sources of uncertainty and different strategies for coping with it, such as reducing or accepting it and learning how to make decisions despite feeling uncertain.The overall objectives of the thesis are to contribute with information that reduces uncertainty regarding the treatment of cariously exposed pulps in young permanent teeth and to improve dental education to ensure that future dental students manage well despite uncertainty.By means of a systematic review and a model analysis, the thesis evaluates the available evidence and cost-effectiveness of a pulp capping procedure compared to a root canal treatment to reduce the uncertainty regarding the cost-effectiveness of treatments for young permanent teeth with vital pulps exposed by caries.The thesis also addresses the acceptance of uncertainty. A reflection exercise was developed and tested in a group of dental students. Prompts from an established model were used to stimulate the students to write reflections during the risk assessment of a root-filled tooth. The effect of the reflections on the student’s awareness of and comfort with uncertainty was explored with a repeated questionnaire. The written reflections were analyzed with a qualitative method to explore how dental students reflected on clinical experience in relation to uncertainty.In the systematic review, the success rate for pulp capping in children and adolescents varied between 64 and 100 percent in the included studies. The model indicated that pulp capping procedures are cost-effective compared to root canal treatment in teeth with pulp exposure due to caries. Fewer teeth were extracted after a pulp capping during the 9 years the patients were followed in the model and the cost for the initial treatment and follow-up treatments during this time period was lower compared to a root canal treatment.The reflection exercise had an effect on the students’ responses to the questions regarding how certain they believed an experienced colleague would feel, and how certain they felt of their capacity to handle the case. Most students did not state that they felt certain about assessing the risk for exacerbation of apical periodontitis in root-filled teeth but felt certain of their own capacity to handle the case, as well as comfortable with their ability to handle the situation and do their best for the patient.Three themes about experience and lack of experience were identified in the reflections: “the meaning of clinical experience”, “assumed differences regarding assessment” and “relating to the same risk factors”.The following conclusions were drawn from the four studies:For children and adolescents with pulp exposure due to caries, pulp capping procedures are cost-effective compared to root canal treatment, but there is a lack of prospective studies concerning root canal treatment. Moreover, the existing studies on pulp capping procedures are of low quality.Most final-year dental students participating in a reflection exercise did not feel certain of their risk assessment of root-filled teeth but still felt certain of their capacity to handle the situation, as well as comfortable with their ability to do the best for the patient. The students believed that clinical experience leads to certainty even when the scientific evidence is lacking and experts who meet students have a great responsibility to be transparent with their own uncertainty.
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| 4. |
- Fransson, Helena, et al.
(författare)
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EndoReCo banar väg för ökad kunskap och akademisk meritering
- 2022
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Ingår i: Tandläkartidningen. - : Sveriges tandläkarförbund. - 0039-6982. ; 114:12, s. 46-52
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- För att minska kunskapsluckorna inom odontologin krävs samarbete mellan lärosätena. Det ger även möjlighet till akademisk meritering, vilket är angeläget då antalet seniora forskare med behörighet för forskningshandledning i Sverige är färre än någonsin. EndoReCo (Endodontic Research Collaboration) är ett skandinaviskt forskningsnätverk i endodonti som kan ta del av just dessa fördelar.
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| 5. |
- Havsed, Kristian, et al.
(författare)
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Multivariable prediction models of caries increment : a systematic review and critical appraisal.
- 2023
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Ingår i: Systematic Reviews. - : BioMed Central (BMC). - 2046-4053. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Multivariable prediction models are used in oral health care to identify individuals with an increased likelihood of caries increment. The outcomes of the models should help to manage individualized interventions and to determine the periodicity of service. The objective was to review and critically appraise studies of multivariable prediction models of caries increment.METHODS: Longitudinal studies that developed or validated prediction models of caries and expressed caries increment as a function of at least three predictors were included. PubMed, Cochrane Library, and Web of Science supplemented with reference lists of included studies were searched. Two reviewers independently extracted data using CHARMS (Critical Appraisal and Data Extraction for Systematic Reviews of Prediction Modelling Studies) and assessed risk of bias and concern regarding applicability using PROBAST (Prediction model Risk Of Bias ASessment Tool). Predictors were analysed and model performance was recalculated as estimated positive (LR +) and negative likelihood ratios (LR -) based on sensitivity and specificity presented in the studies included.RESULTS: Among the 765 reports identified, 21 studies providing 66 prediction models fulfilled the inclusion criteria. Over 150 candidate predictors were considered, and 31 predictors remained in studies of final developmental models: caries experience, mutans streptococci in saliva, fluoride supplements, and visible dental plaque being the most common predictors. Predictive performances varied, providing LR + and LR - ranges of 0.78-10.3 and 0.0-1.1, respectively. Only four models of coronal caries and one root caries model scored LR + values of at least 5. All studies were assessed as having high risk of bias, generally due to insufficient number of outcomes in relation to candidate predictors and considerable uncertainty regarding predictor thresholds and measurements. Concern regarding applicability was low overall.CONCLUSIONS: The review calls attention to several methodological deficiencies and the significant heterogeneity observed across the studies ruled out meta-analyses. Flawed or distorted study estimates lead to uncertainty about the prediction, which limits the models' usefulness in clinical decision-making. The modest performance of most models implies that alternative predictors should be considered, such as bacteria with acid tolerant properties.TRIAL REGISTRATION: PROSPERO CRD#152,467 April 28, 2020.
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| 6. |
- Hotz, Alrun, et al.
(författare)
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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
- 2021
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Ingår i: Genes. - : MDPI. - 2073-4425. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of the genes ALOX12B and ALOXE3, which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in ALOX12B and 25 novel mutations in ALOXE3. We investigated the spectrum of mutations in ALOX12B and ALOXE3 in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations.
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| 7. |
- Lagerstedt-Robinson, Kristina, et al.
(författare)
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A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
- 2022
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 17:2
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Tidskriftsartikel (refereegranskat)abstract
- Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with BHDS present with three distinct symptoms: fibrofolliculomas, pneumothorax due to lung cyst formation, and increased lifetime risk of kidney tumours. The aim of the current study was to estimate the incidence of BHDS in the Swedish population and further describe the clinical manifestations and their frequency. Splice variant c.779+1G>T was the most common pathogenic variant, found in 57% of the families, suggesting this may be a founder mutation in the Swedish population. This was further investigated using haplotype analysis in 50 families that shared a common haplotype. Moreover, according to gnomAD the carrier frequency of the c.779+1G>T variant has been estimated to be 1/3265 in the Swedish population, however our data suggest that the carrier frequency in the Swedish population may be significantly higher. These findings should raise awareness among physicians of different specialties to patients presenting with fibrofolliculomas, pneumothorax and/or kidney tumours. We also stress the importance of consensus recommendations regarding diagnosis and clinical management of this, not that uncommon, syndrome.
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| 8. |
- Markvart, M., et al.
(författare)
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Frequency of additional treatments in relation to the number of root filled canals in molar teeth in the Swedish adult population
- 2021
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Ingår i: International Endodontic Journal. - : Wiley. - 0143-2885 .- 1365-2591. ; 54:6, s. 826-833
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Tidskriftsartikel (refereegranskat)abstract
- Aim To investigate the 5-year frequency of additional treatments in relation to the number of reported root filled canals in molar teeth in Sweden. Methodology The cohort included first and second molars in adult individuals who were registered with a root filling performed in 2009. Treatment codes corresponding to root fillings of teeth with from one up to four root filled canals were identified in the Swedish Social Insurance Agency database. The studied additional treatments were extraction, non-surgical root canal retreatment and endodontic surgery during the subsequent 5 years, identified by corresponding codes for these treatments registered on these specific teeth. Differences in the frequency of additional treatments based on the number of root filled canals were analysed using chi-square test and considered statistically significant at P In 2009, root fillings on a first or second molar tooth were registered in 100 720 individuals. The study included 32 901 maxillary first molars (6.4% with four root filled canals), 12 763 maxillary second molars (3.3% with four root filled canals), 37 703 mandibular first molars (19.2% with four root filled canals) and 17 353 mandibular second molars (3.7% with four root filled canals). The total frequency of additional treatments was 14.3% (n = 14 425) during the 5-year observational period. Additional treatments were more frequent in teeth with 1-3 root filled canals compared to teeth with four root filled canals for maxillary first molars (15.2% vs. 12.7%, P = 0.002), maxillary second molars (13.8% vs. 9.1%, P = 0.007) and mandibular first molars (14.0% vs. 10.7%, P < 0.001) but not mandibular second molars (15.6% vs. 13.7%, P = 0.200). Conclusions Over 5 years, 85.7% of the included teeth were not registered with any additional treatments. Maxillary first and second molars and mandibular first molar teeth had a greater frequency of additional treatments when <= 3 root canals were filled compared to four canals.
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| 9. |
- May, Arne, et al.
(författare)
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Orofacial pain for clinicians : A review of constant and attack-like facial pain syndromes
- 2023
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Ingår i: Cephalalgia. - : Sage Publications. - 0333-1024 .- 1468-2982. ; 43:8
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Primary headache syndromes such as migraine are among the most common neurological syndromes. Chronic facial pain syndromes of non-odontogenic cause are less well known to neurologists despite being highly disabling. Given the pain localization, these patients often consult dentists first who may conduct unnecessary dental interventions even if a dental cause is not identified. Once it becomes clear that dental modalities have no effect on the pain, patients may be referred to another dentist or orofacial pain specialist, and later to a neurologist. Unfortunately, neurologists are also often not familiar with chronic orofacial pain syndromes although they share the neural system, i.e., trigeminal nerve and central processing areas for headache disorders.CONCLUSION: In essence, three broad groups of orofacial pain patients are important for clinicians: (i) Attack-like orofacial pain conditions, which encompass neuralgias of the cranial nerves and less well-known facial variants of primary headache syndromes; (ii) persistent orofacial pain disorders, including neuropathic pain and persistent idiopathic facial/dentoalveolar pain; and (iii) other differential diagnostically relevant orofacial pain conditions encountered by clinicians such as painful temporomandibular disorders, bruxism, sinus pain, dental pain, and others which may interfere (trigger) and overlap with headache. It is rewarding to know and recognize the clinical picture of these facial pain syndromes, given that, just like for headache, an internationally accepted classification system has been published and many of these syndromes can be treated with medications generally used by neurologists for other pain syndromes.
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| 10. |
- Nagendrababu, V, et al.
(författare)
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Preferred Reporting Items for Diagnostic Accuracy Studies in Endodontics (PRIDASE) guidelines : a development protocol
- 2021
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Ingår i: International Endodontic Journal. - : John Wiley & Sons. - 0143-2885 .- 1365-2591. ; 54:7, s. 1051-1055
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Forskningsöversikt (refereegranskat)abstract
- Diagnostic accuracy studies play an important role in informing clinical practice and patient management, by evaluating the ability of diagnostic testing and imaging to identify the presence or absence of a disease or condition. These studies compare the relative diagnostic strength of the test or device with a reference standard, therefore, guiding clinical decisions on the reliability of the test, the need for further tests, and whether to monitor or treat a particular condition. Inadequate and incomplete reporting of diagnostic accuracy studies can disguise methodological deficiencies and ultimately result in study bias and the inability to translate research findings into daily clinical practice. The Preferred Reporting Items for Diagnostic Accuracy Studies in Endodontics (PRIDASE) guidelines are being developed in order to improve the accuracy, transparency, completeness and reproducibility of diagnostic accuracy studies in the speciality of Endodontology. The aim of this paper is to report the process used to develop the PRIDASE guidelines based on a well-established consensus process. The project leaders (PD, VN) formed a steering committee of nine members (PD, VN, PA, AF, DR, SP, CK, MP, HD) to oversee and manage the project. The PRIDASE steering committee will develop the initial draft of the PRIDASE guidelines by adapting and modifying the Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015 guidelines, adding new items related specifically to the nature of Endodontics and incorporate the Clinical and Laboratory Images in Publication (CLIP) principles. The initial guidelines will consist of a series of domains and individual items and will be validated by the members of a PRIDASE Delphi Group (PDG) consisting of a minimum of 30 individuals who will evaluate independently the individual items based on two parameters: 'clarity' using a dichotomous scoring (yes/no) and 'suitability' for inclusion using a 9-point Likert Scale. The scores awarded by each member and any suggestions for improvement will be shared with the PDG to inform an iterative process that will result in a series of items that are clear and suitable for inclusion in the new PRIDASE guidelines. Once the PDG has completed its work, the steering committee will create a PRIDASE Meeting Group (PMG) of 20 individuals from around the world. Members of the PDG will be eligible to be the part of PMG. The draft guidelines and flowchart approved by the PDG will then be presented for further validation and agreement by the PMG. As a result of these discussions, the PRIDASE guidelines will be finalized and then disseminated to relevant stakeholders through publications and via the Preferred Reporting Items for study Designs in Endodontology (PRIDE) website (http://pride-endodonticguidelines.org). Periodic updates to the PRIDASE guidelines will be made based on feedback from stakeholders and end-users.
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