20 research outputs found

    Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts

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    Treatment of hemifacial microsomia in a growing child: the importance of co-operation between the orthodontist and the maxillofacial surgeon

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    The treatment of patients with hemifacial microsomia (HM) always requires an interdisciplinary approach including at least maxillofacial surgery and orthodontics. Co-operation not only within the team, but also with the patients and their family is essential in order to achieve the best results. In the case history of the 10-(1/2) year old female patient reported here, three surgical interventions (two with costo-chondral bone grafts) and a 3-year orthodontic treatment have taken place. A harmonious facial and occlusal result was finally reached.status: publishe

    Designing multimedia instruction in dentistry: need for sequencing model

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    When designing any piece of instruction, multimedia or other, the designer must answer two important issues: (i) how the instructional events should be sequenced over time (sequencing); (ii) how the interrelationships among these ideas should be taught to the students (synthesis). Two fundamental levels of instructional design strategies have been identified to provide sequence and synthesis: ‘macro’ and ‘micro’ strategies. Instructional designers use macro strategies to structure a number of different content ideas. Macro strategies are concerned with the organisation of memory. Many of the prescriptions about sequencing are at the macro level. Some of the well-known sequencing strategies are: spiral curriculum; progressive differentiation; hierarchical sequencing; shortest path sequencing and elaboration sequencing. When using the multimedia environment as a learning tool, are these four basic macro strategies effective in providing sequence and synthesis of theoretical as well as clinical knowledge for dental students? Or is there a need to create a new clinical macro-sequencing model for instructional multimedia programs in dentistry? We concluded that further research is needed on the methods, strategies and models that induce a cognitive process when adopting a computer-assisted learning approach. A possible approach will be discussed.status: publishe

    Update on 13 Syndromes Affecting Craniofacial and Dental Structures

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    Care of individuals with syndromes affecting craniofacial and dental structures are mostly treated by an interdisciplinary team from early childhood on. In addition to medical and dental specialists that have a vivid interest in these syndromes and for whom these syndromes are of evident interest, experts of scientific background—like molecular and developmental geneticists, but also computational biologists and bioinformaticians—, become more frequently involved in the refined diagnostic and etiological processes of these patients. Early diagnosis is often crucial for the effective treatment of functional and developmental aspects. However, not all syndromes can be clinically identified early, especially in cases of absence of known family history. Moreover, the treatment of these patients is often complicated because of insufficient medical knowledge, and because of the dental and craniofacial developmental variations. The role of the team is crucial for the prevention, proper function, and craniofacial development which is often combined with orthognathic surgery. Although the existing literature does not provide considerable insight into this topic, this descriptive review aims to provide tools for the interdisciplinary team by giving an update on the genetics and general features, and the oral and craniofacial manifestations for early diagnosis. Clinical phenotyping together with genetic data and pathway information will ultimately pave the way for preventive strategies and therapeutic options in the future. This will improve the prognosis for better functional and aesthetic outcome for these patients and lead to a better quality of life, not only for the patients themselves but also for their families. The aim of this review is to promote interdisciplinary interaction and mutual understanding among all specialists involved in the diagnosis and therapeutic guidance of patients with these syndromal conditions in order to provide optimal personalized care in an integrated approach

    Skeletal and dento-alveolar stability after surgical-orthodontic treatment of anterior open bite: a retrospective study

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    The aim of this investigation was to assess skeletal and dento-alveolar stability after surgical-orthodontic correction of skeletal anterior open bite treated by maxillary intrusion (group A) versus extrusion (group B). The cephalometric records of 49 adult anterior open bite patients (group A: n = 38, group B: n = 11), treated by the same maxillofacial surgeon, were examined at different timepoints, i.e. at the start of the orthodontic treatment (T1), before surgery (T2), immediately after surgery (T3), early post-operatively (+/- 20 weeks, T4) and one year post-operatively (T5). A bimaxillary operation was performed in 31 of the patients in group A and in six in group B. Rigid internal fixation was standard. If maxillary expansion was necessary, surgically assisted rapid palatal expansion (SRPE) was performed at least 9 months before the Le Fort I osteotomy. Forty-five patients received combined surgical and orthodontic treatment. The surgical open bite reduction (A, mean 3.9 mm; B, mean 7.7 mm) and the increase of overbite (A, mean 2.4 mm; B, mean 2.7 mm), remained stable one year post-operatively. SNA (T2-T3), showed a high tendency for relapse. The clockwise rotation of the palatal plane (1.7 degrees; T2-T3), relapsed completely within the first post-operative year. Anterior facial height reduction (A, mean -5.5 mm; B, mean -0.8 mm) occurred at the time of surgery. It can be concluded that open bite patients, treated by posterior Le Fort I impaction as well as with anterior extrusion, with or without an additional bilateral sagittal split osteotomy (BSSO), one year post-surgery, exhibit relatively good clinical dental and skeletal stability.status: publishe

    Variability in dentofacial phenotypes in four families with WNT10A mutations

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    This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onycho-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome (SSPS). Recurrent WNT10A mutations were identified in all affected family members and the associated symptoms are presented with emphasis on the dentofacial phenotypes obtained with inter alia three-dimensional facial stereophotogrammetry. A comprehensive overview of the literature regarding WNT10A mutations, associated conditions and developmental defects is presented. We conclude that OODD and SSPS should be considered as variable expressions of the same WNT10A genotype. In all affected individuals, a dished-in facial appearance was observed which might be helpful in the clinical setting as a clue to the underlying genetic etiology.status: publishe

    Delayed cutaneous wound closure in HO-2 deficient mice despite normal HO-1 expression

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    Impaired wound healing can lead to scarring, and aesthetical and functional problems. The cytoprotective haem oxygenase (HO) enzymes degrade haem into iron, biliverdin and carbon monoxide. HO-1 deficient mice suffer from chronic inflammatory stress and delayed cutaneous wound healing, while corneal wound healing in HO-2 deficient mice is impaired with exorbitant inflammation and absence of HO-1 expression. This study addresses the role of HO-2 in cutaneous excisional wound healing using HO-2 knockout (KO) mice. Here, we show that HO-2 deficiency also delays cutaneous wound closure compared to WT controls. In addition, we detected reduced collagen deposition and vessel density in the wounds of HO-2 KO mice compared to WT controls. Surprisingly, wound closure in HO-2 KO mice was accompanied by an inflammatory response comparable to WT mice. HO-1 induction in HO-2 deficient skin was also similar to WT controls and may explain this protection against exaggerated cutaneous inflammation but not the delayed wound closure. Proliferation and myofibroblast differentiation were similar in both two genotypes. Next, we screened for candidate genes to explain the observed delayed wound closure, and detected delayed gene and protein expression profiles of the chemokine (C-X-C) ligand-11 (CXCL-11) in wounds of HO-2 KO mice. Abnormal regulation of CXCL-11 has been linked to delayed wound healing and disturbed angiogenesis. However, whether aberrant CXCL-11 expression in HO-2 KO mice is caused by or is causing delayed wound healing needs to be further investigated.status: publishe

    Educational Psychology: Advances in learning, cognition and motivation

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    Mesenchymal stem cell (MSC) administration is a promising adjuvant therapy to treat tissue injury. However, MSC survival after administration is often hampered by oxidative stress at the site of injury. Heme oxygenase (HO) generates the cytoprotective effector molecules biliverdin/bilirubin, carbon monoxide (CO) and iron/ferritin by breaking down heme. Since HO-activity mediates anti-apoptotic, anti-inflammatory, and anti-oxidative effects, we hypothesized that modulation of the HO-system affects MSC survival. Adipose-derived MSCs (ASCs) from wild type (WT) and HO-2 knockout (KO) mice were isolated and characterized with respect to ASC marker expression. In order to analyze potential modulatory effects of the HO-system on ASC survival, WT and HO-2 KO ASCs were pre-treated with HO-activity modulators, or downstream effector molecules biliverdin, bilirubin, and CO before co-exposure of ASCs to a toxic dose of H2O2. Surprisingly, sensitivity to H2O2-mediated cell death was similar in WT and HO-2 KO ASCs. However, pre-induction of HO-1 expression using curcumin increased ASC survival after H2O2 exposure in both WT and HO-2 KO ASCs. Simultaneous inhibition of HO-activity resulted in loss of curcumin-mediated protection. Co-treatment with glutathione precursor N-Acetylcysteine promoted ASC survival. However, co-incubation with HO-effector molecules bilirubin and biliverdin did not rescue from H2O2-mediated cell death, whereas co-exposure to CO-releasing molecules-2 (CORM-2) significantly increased cell survival, independently from HO-2 expression. Summarizing, our results show that curcumin protects via an HO-1 dependent mechanism against H2O2-mediated apoptosis, and likely through the generation of CO. HO-1 pre-induction or administration of CORMs may thus form an attractive strategy to improve MSC therapy
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