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1.
Community Dent Health ; 39(1): 22-26, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-34351712

RESUMO

BACKGROUND: The Wikipedia Collaboration of Dental Schools (WCODS) is a student-led initiative that aims to publish high quality scientific, evidence-based dental content on the Wikipedia online encyclopaedia by equipping its members to use research, critical appraisal and writing skills to create accurate content. In 2019, the Collaboration launched a standardised training programme developed by Wikimedia-trained committee members, academic dental school staff and the Cochrane Oral Health global community. OBJECTIVE: To evaluate the effectiveness of this training programme in ensuring WCODS editors follow the processes underpinning Evidence-Based Dentistry (EBD). METHOD: A cohort of dental students and staff (n=136) from six dental schools in the UK and Malaysia took part in a standardised and structured training programme at the annual WCODS training meeting. Participants' abilities and their perceived levels of confidence in carrying out critical analysis of the literature were measured using pre- and post-training surveys, and competency assessments. RESULTS: Participants' skills in conducting literature searches, critical appraisal of the findings and creating and editing a Wikipedia page improved after training. CONCLUSION: The training programme provided participants with the skill set and confidence to apply best practice to create and edit Wikipedia entries. This Collaboration intends to recruit more contributors to improve global oral health literacy using the free online Wikipedia encyclopaedia.


Assuntos
Odontologia Baseada em Evidências , Faculdades de Odontologia , Currículo , Educação em Odontologia , Odontologia Baseada em Evidências/educação , Humanos , Malásia , Ensino
2.
Morphologie ; 105(348): 24-28, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32807628

RESUMO

OBJECTIVE: Thezygomaticus major is a principal muscle of facial expression which is engaged when smiling. The zygomaticus major origin of the zygomatic bone is often discussed relevant to its importance in the field of plastic surgery. In addition, the zygomaticus major attachment site is also significant for forensic craniofacial reconstruction, separating the cheek into frontal and lateral surfaces. However, there are discrepancies amongst published articles regarding the precise origin of the zygomaticus major muscle. The aim of this study is to investigate more distinctive and palpable landmarks as the bony attachment of the zygomaticus major. METHODS: This project is the first zygomaticus major dissection study utilising Thiel embalmed cadavers. Fifty-two facial dissections were investigated in 26 Thiel embalmed bodies, bequeathed to the Centre for Anatomy and Human Identification at The University of Dundee between 2013 and 2015. RESULTS: This study found that the origin of zygomaticus major muscle was located at the superior margin of the temporal process on the lateral surface of zygomatic bone. Moreover, the zygomaticus major muscle overlapped the anterosuperior border of the masseter muscle. One out of 52 zygomaticus major muscles presented bifurcation. CONCLUSION: The origin site of zygomaticus major is considered important to increase resemblance in forensic craniofacial reconstruction. Furthermore, since zygomaticus major is a salient muscle involved in facial expression, the potential effects for cosmetic/surgical procedures are also relevant to the medical field and successful surgical outcomes. The current study provided easily palpable landmarks of zygomaticus major origin site which is beneficial for both surgeons and forensic craniofacial reconstruction practitioners.


Assuntos
Músculos Faciais , Cadáver , Dissecação , Humanos , Procedimentos de Cirurgia Plástica
3.
Oral Dis ; 24(3): 476-481, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-28975726

RESUMO

OBJECTIVE: To pilot investigation of muscle fiber diameter (MFD) on medial and lateral sides of the cleft in 18 infants with cleft lip with or without cleft palate (CL/P) using image processing. MATERIAL AND METHODS: Formalin-fixed paraffin-embedded (FFPE) tissue samples from the medial and lateral sides of the cleft were analyzed for MFD using an image-processing program (ImageJ). For within-case comparison, a paired Student's t test was performed. For comparisons between classes, an unpaired t test was used. RESULTS: Image processing enabled rapid measurement of MFD with majority of fibers showing diameter between 6 and 11 µm. There was no significant difference in mean MFD between the medial and lateral sides, or between CL and CLP. However, we found a significant difference on the medial side (p = .032) between males and females. CONCLUSION: The image processing on FFPE tissues resulted in easy quantification of MFD with finding of a smaller MFD on the medial side in males suggesting possible differences in orbicularis oris (OO) muscle between the two sexes in CL that warrants replication using larger number of cases. Moreover, this finding can aid subclinical phenotyping and potentially in the restoration of the anatomy and function of the upper lip.


Assuntos
Fenda Labial/patologia , Processamento de Imagem Assistida por Computador , Fibras Musculares Esqueléticas/patologia , Feminino , Humanos , Lactente , Masculino , Microscopia , Tamanho do Órgão , Fotografação , Fatores Sexuais
4.
Cleft Palate Craniofac J ; 53(5): 539-49, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26171570

RESUMO

Nonsyndromic orofacial clefting (OFC) describes a range of phenotypes that represent the most common craniofacial birth defects in humans, with an overall birth prevalence of 1:700 live births. Because of the lifelong negative implications on health and well-being associated with OFC and the numbers of people affected, quality research into its etiology, diagnosis, treatment outcomes, and preventative strategies is essential. A range of different methods is used for recording and classifying OFC subphenotypes, one of which is the International Classification of Diseases (ICD) system. However, there is a general perception that research is being hampered by a lack of sensitivity and specificity in grouping those with OFC into subphenotypes, with potential heterogeneity and confounding in epidemiologic, genetic, and genotype-phenotype correlation studies. This article provides a background to the necessity of OFC research, discusses current controversies within cleft subphenotyping, and provides a brief overview of current OFC classifications as well as their limitations. The LAHSHAL classification is described in the context of a potentially useful tool for OFC that could complement the ICD-10/ICD-11 Beta coding systems to become a simply understood, universally accepted, clinically friendly, and research-sensitive instrument. Empowering registries, clinicians, and researchers to use a common classification system would have significant implications for OFC research across the world at a time when accurate subphenotyping is crucial and health care research is becoming increasingly tailored toward the individual.


Assuntos
Fenda Labial/classificação , Fissura Palatina/classificação , Fenótipo , Humanos , Classificação Internacional de Doenças , Prevalência , Sistema de Registros
5.
Cleft Palate Craniofac J ; 53(5): 568-77, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26623548

RESUMO

OBJECTIVE: This study was undertaken to evaluate intraoral 3D scans for assessing dental arch relationships and obtain patient/parent perceptions of impressions and intraoral 3D scanning. MATERIALS & METHODS: Forty-three subjects with nonsyndromic unilateral cleft lip and palate (UCLP) had impressions taken for plaster models. These and the teeth were scanned using the R700 Orthodontic Study Model Scanner and Trios® Digital Impressions Scanner (3Shape A/S, Copenhagen, Denmark) to create indirect and direct digital models. All model formats were scored by three observers on two occasions using the GOSLON and modified Huddart Bodenham (MHB) indices. Participants and parents scored their perceptions of impressions and scanning from 1 (very good) to 5 (very bad). Intra- and interexaminer reliability were tested using GOSLON and MHB data (Cronbach's Alpha >0.9). Bland and Altman plots were created for MHB data, with each model medium (one-sample t tests, P < .05) and questionnaire data (Wilcoxon signed ranks P < .05) tested. RESULTS: Intra- and interexaminer reliability (>0.9) were good for all formats with the direct digital models having the lowest interexaminer differences. Participants had higher ratings for scanning comfort (84.8%) than impressions (44.2%) (P < .05) and for scanning time (56.6%) than impressions (51.2%) (P > .05). None disliked scanning, but 16.3% disliked impressions. Data for parents and children positively correlated (P < .05). CONCLUSIONS: Reliability of scoring dental arch relationships using intraoral 3D scans was superior to indirect digital and to plaster models; Subjects with UCLP preferred intra-oral 3D scanning to dental impressions, mirrored by parents/carers; This study supports the replacement of conventional impressions with intra-oral 3D scans in longitudinal evaluations of the outcomes of cleft care.


Assuntos
Arco Dental/anatomia & histologia , Técnica de Moldagem Odontológica , Imageamento Tridimensional , Modelos Dentários , Preferência do Paciente , Adolescente , Criança , Pré-Escolar , Fenda Labial , Fissura Palatina , Dinamarca , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Adulto Jovem
6.
Cleft Palate Craniofac J ; 51(3): 320-5, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-23557093

RESUMO

Orofacial clefts are the most common malformations of the head and neck. In Africa, orofacial clefts are underascertained, with little or no surveillance system in most parts for clefts and other birth defects. A Nigerian craniofacial anomalies study, NigeriaCRAN, was established in 2006 to support cleft research specifically for epidemiological studies, treatment outcomes, and studies into etiology and prevention. We pooled data from seven of the largest Smile Train treatment centers in the six geopolitical zones in Nigeria. Data from September 2006 to June 2011 were analyzed and clefts compared between sides and genders using the Fisher exact test. A total of 2197 cases were identified during the study period, with an estimated prevalence rate of 0.5 per 1000. Of the total number of orofacial clefts, 54.4% occur in males and 45.6% in females. There was a significant difference (P = .0001) between unilateral left clefts and unilateral right clefts, and there was a significant difference (P = .0001) between bilateral clefts and clefts on either the left or right side. A significant gender difference (P = .03) was also observed for cleft palate, with more females than males. A total of 103 (4.7%) associated anomalies were identified. There were nine syndromic cleft cases, and 10.4% of the total number of individuals with clefts have an affected relative. The significant difference between unilateral clefts and the gender differences in the proportion of cleft palate only are consistent with the literature. The present study emphasizes the need for birth defects registries in developing countries in order to estimate the exact prevalence of birth defects including orofacial clefts.


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Nigéria/epidemiologia , Prevalência , Sistema de Registros
7.
J Clin Pediatr Dent ; 38(3): 241-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25095319

RESUMO

UNLABELLED: The Objective of this study was to identify the prevalence and describe the characteristics of non-syndromic orofacial cleft (NSOFC) in Jeddah, Saudi Arabia and examine the influence of consanguinity. STUDY DESIGN: Six hospitals were selected to represent Jeddah's five municipal districts. New born infants with NSOFC born between 1st of January 2010 to 31st of December 2011 were clinically examined and their number compared to the total number of infants born in these hospitals to calculate the prevalence of NSOFC types and sub-phenotypes. Referred Infants were included for the purpose of studying NSOFC characteristics and their relationship to consanguinity. Information on NSOFC infants was gathered through parents' interviews, infants 'files and patient examinations. RESULTS: Prospective surveillance of births resulted in identifying 37 NSOFC infants born between 1st of January 2010 to 31st of December 2011 giving a birth prevalence of 0.80/1000 living births. The total infants seen, including referred cases, were 79 children. Consanguinity among parents of cleft palate (CP) cases was statistically higher than that among cleft lip with or without cleft palate (CL/P) patients (P = 0.039). Although there appears to be a trend in the relationship between consanguinity and severity of CL/P sub-phenotype, it was not statistically significant (P = 0.248). CONCLUSIONS: Birth prevalence of NSOFC in Jeddah City was 0.8/1000 live births with CL/P: 0.68/1000 and CP: 0.13/1000. Both figures were low compared to the global birth prevalence (NSOFC: 1.25/1000, CL/P: 0.94/1000 and CP: 0.31/1000 live births). Consanguineous parents were statistically higher among CP cases than among other NSOFC phenotypes.


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Consanguinidade , Coeficiente de Natalidade , Fenda Labial/classificação , Fenda Labial/genética , Fissura Palatina/classificação , Fissura Palatina/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Vigilância da População , Prevalência , Estudos Prospectivos , Arábia Saudita/epidemiologia , Saúde da População Urbana/estatística & dados numéricos
8.
Surgeon ; 11(6): 313-8, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23786963

RESUMO

OBJECTIVES: The CLEFTSiS (Cleft Service in Scotland) electronic patient record (EPR) contains pre-surgical photographs among other records and this study proposes to assess the reliability of diagnosis and accuracy of the type and extent of cleft. DESIGN AND SETTING: Retrospective study, University of Dundee. MATERIALS AND METHODS: From all 1092 cases contained by the CLEFTSiS EPR from inception (April 2000) until September 2011; syndromic, atypical and submucous clefts, still births, abortuses, cases with non-cleft velopharyngeal incompetence, Pierre Robin Sequence, or Simonart's bands were excluded to leave 730 case records for analysis. Observer 1 recorded the LAHSAL subphenotype using the pre-surgical photographs for each case. Images that were absent, only partially demonstrated the intended anatomical site or were unclear were excluded. The data for Observer 1 was compared to the EPR subphenotype using the Kappa statistic. Thirty randomly selected cases were recoded one month later to calculate intra-observer reliability and three further observers subphenotyped these cases to determine inter-examiner reliability, both using Kappa statistics. RESULTS: Intra- and inter-observer reliability of the LAHSAL system were excellent (0.809-0.992). The correspondence between Observer 1 and the original CLEFTSiS subphenotype was almost perfect (0.812-0.862) except the soft palate and the left alveolus, where agreement was substantial (0.638-0.776). Only 68 (9.3%) of the records fully demonstrated all six anatomical areas of the LAHSAL coding system with intra-oral images being the most frequently deficient views. CONCLUSIONS: The subphenotype data held on the CLEFTSiS EPR is accurate but incomplete. Only 9.3% of cases contained all relevant pre-surgical photographs. Subphenotyping using the LAHSAL classification has a high degree of intra- and inter-observer reliability.


Assuntos
Técnicas e Procedimentos Diagnósticos/classificação , Registros Eletrônicos de Saúde/normas , Anormalidades Maxilomandibulares/diagnóstico , Feminino , Humanos , Recém-Nascido , Masculino , Fenótipo , Curva ROC , Reprodutibilidade dos Testes , Estudos Retrospectivos , Escócia
9.
Cleft Palate Craniofac J ; 50(6): e115-20, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23157577

RESUMO

Objective : To determine the accuracy of volumetric measurement of a simulated alveolar bone defect using cone-beam computed tomography (CBCT) scans. Design : Laboratory-based observational study. Setting : University dental teaching hospital. Methods : Scans of a dried skull with an artificially created maxillary bone defect. Main Outcome Measures : The skull was scanned using an i-CAT CBCT scanner (Imaging Sciences International, Hatfield, PA) at 0.2 mm resolution. The superior and inferior aspects of the void were identified, and the volume was calculated by three-dimensional (3D) computational analysis of the CBCT scan using an algorithm created with MATLAB software (The Mathworks Inc., R2009a, Natick, MA). The skull was then scanned using micro computed tomography (micro-CT) at 0.0934 mm resolution, and the volume of the defect was determined using the Studio Max 2.2 program (Volume Graphics, 2012, Heidelberg, Germany). The process was repeated two additional times, and the volumes were compared using a two-sample t test (P < .05). To determine the interobserver reproducibility of the identification of the superior and inferior aspects of the defect, the slices chosen to represent these extremities were selected by four separate observers and the data assessed using an F-test (P < .05). Results : The interobserver reproducibility of the identification of the superior and inferior boundaries of the defect was good (P = .18). The volumes computed from the i-CAT CBCT images were 4.11% lower than those computed from the micro-CT images; however, the difference was not statistically significant (P = .71). Conclusions : 3D volumetric measurement of simulated alveolar bone defects using i-CAT CBCT scans is similar to the volumes determined using micro-CT.


Assuntos
Tomografia Computadorizada de Feixe Cônico , Microtomografia por Raio-X , Humanos , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Maxila/diagnóstico por imagem , Reprodutibilidade dos Testes
10.
Eur J Orthod ; 34(6): 762-7, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21976635

RESUMO

The GOSLON/5-year-old scoring systems have been used in various national and international studies. This study aims to identify the range of Modified Huddart and Bodenham (MHB) scores, which correlate with each GOSLON and 5-year-old category and thereby create a new scoring system that allows comparison with historical data. Two hundred and eighty-three unilateral cleft lip and palate study models from England and Scotland that had all been previously scored using the 5-year-old and GOSLON indices by calibrated examiners were scored using MHB on two separate occasions a month apart by two examiners. Reliability analysis using intraclass correlation and Bland Altman plots were performed. Ordinal regression was used to define the categories of MHB that correspond to the 5-year-old and GOSLON categories. The results revealed a high level of repeatability for both the 5 and the 10 year old models. The MHB scale was grouped into the five categories of the GOSLON and 5-year-old indices with more precision for the 5 year than the 10 year scores. In conclusion, there was high intra-examiner and inter-examiner agreement using the MHB scoring system. It also correlates well with the 5-year-old and GOSLON indices and has been shown to be a much more sensitive scoring system.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Arco Dental/anatomia & histologia , Modelos Dentários/normas , Fatores Etários , Calibragem , Criança , Pré-Escolar , Fenda Labial/patologia , Fissura Palatina/patologia , Humanos , Incisivo/patologia , Masculino , Maxila , Variações Dependentes do Observador , Palato , Padrões de Referência , Valores de Referência , Reprodutibilidade dos Testes , Resultado do Tratamento
11.
J Dent Res ; 101(4): 465-472, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34689653

RESUMO

Risk loci identified through genome-wide association studies have explained about 25% of the phenotypic variations in nonsyndromic orofacial clefts (nsOFCs) on the liability scale. Despite the notable sex differences in the incidences of the different cleft types, investigation of loci for sex-specific effects has been understudied. To explore the sex-specific effects in genetic etiology of nsOFCs, we conducted a genome-wide gene × sex (GxSex) interaction study in a sub-Saharan African orofacial cleft cohort. The sample included 1,019 nonsyndromic orofacial cleft cases (814 cleft lip with or without cleft palate and 205 cleft palate only) and 2,159 controls recruited from 3 sites (Ethiopia, Ghana, and Nigeria). An additive logistic model was used to examine the joint effects of the genotype and GxSex interaction. Furthermore, we examined loci with suggestive significance (P < 1E-5) in the additive model for the effect of the GxSex interaction only. We identified a novel risk locus on chromosome 8p22 with genome-wide significant joint and GxSex interaction effects (rs2720555, p2df = 1.16E-08, pGxSex = 1.49E-09, odds ratio [OR] = 0.44, 95% CI = 0.34 to 0.57). For males, the risk of cleft lip with or without cleft palate at this locus decreases with additional copies of the minor allele (p < 0.0001, OR = 0.60, 95% CI = 0.48 to 0.74), but the effect is reversed for females (p = 0.0004, OR = 1.36, 95% CI = 1.15 to 1.60). We replicated the female-specific effect of this locus in an independent cohort (p = 0.037, OR = 1.30, 95% CI = 1.02 to 1.65), but no significant effect was found for the males (p = 0.29, OR = 0.86, 95% CI = 0.65 to 1.14). This locus is in topologically associating domain with craniofacially expressed and enriched genes during embryonic development. Rare coding mutations of some of these genes were identified in nsOFC cohorts through whole exome sequencing analysis. Our study is additional proof that genome-wide GxSex interaction analysis provides an opportunity for novel findings of loci and genes that contribute to the risk of nsOFCs.


Assuntos
Fenda Labial , Fissura Palatina , Fenda Labial/genética , Fissura Palatina/genética , Feminino , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética
12.
Cleft Palate Craniofac J ; 48(6): 646-53, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21740177

RESUMO

BACKGROUND: Orofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria. SUBJECTS AND METHODS: DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1 , IRF6 , FOXE1, FGFR1 , FGFR2 , BMP4 , MAFB, ABCA4 , PAX7, and VAX1 , and the chromosome 8q region. RESULTS: A missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other apparent causative variations were identified. Deviation from Hardy Weinberg equilibrium (HWE) was observed in these cases (p = .00002). A significant difference was noted between the affected side for unilateral CL (p = .03) and bilateral clefts and between clefts on either side (p = .02). A significant gender difference was also observed for CP (p = .008). CONCLUSIONS: Replication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the development of CL(P).


Assuntos
População Negra/genética , Fenda Labial/genética , Fissura Palatina/genética , Fator de Transcrição MSX1/genética , Mutação de Sentido Incorreto/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Nigéria/epidemiologia , Reação em Cadeia da Polimerase , Análise de Sequência de DNA
13.
Adv Dent Res ; 23(2): 247-58, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21490237

RESUMO

The birth prevalence of orofacial clefts, one of the most common congenital anomalies, is approximately one in 700 live births, but varies with geography, ethnicity, and socio-economic status. There is a variation in infant mortality and access to care both between and within countries, so some clefts remain unrepaired into adulthood. Quality of care also varies, and even among repaired clefts there is residual deformity and morbidity that significantly affects some children. The two major issues in attempts to address these inequalities are (a) etiology/possibilities for prevention and (b) management and quality of care. For prevention, collaborative research efforts are required in developing countries, in line with the WHO approach to implement the recommendations of the 2008 Millennium Development Goals (www.un.org/millenniumgoals). This includes the "common risk factor" approach, which analyzes biological and social determinants of health alongside other chronic health problems such as diabetes and obesity, as outlined in the Marmot Health inequalities review (2008) (www.ucl.ac.uk/gheg/marmotreview). Simultaneously, orofacial cleft research should involve clinical researchers to identify inequalities in access to treatment and identify the best interventions for minimizing mortality and residual deformity. The future research agenda also requires engagement with implementation science to get research findings into practice.


Assuntos
Fissura Palatina/prevenção & controle , Fissura Palatina/terapia , Pesquisa em Odontologia , Saúde Global , Disparidades nos Níveis de Saúde , Saúde Bucal , Fenda Labial/epidemiologia , Fenda Labial/etiologia , Fenda Labial/prevenção & controle , Fenda Labial/terapia , Fissura Palatina/epidemiologia , Fissura Palatina/etiologia , Feminino , Predisposição Genética para Doença , Acessibilidade aos Serviços de Saúde , Humanos , Cooperação Internacional , Distúrbios Nutricionais/complicações , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Prevalência , Fatores Socioeconômicos , Pesquisa Translacional Biomédica
14.
Eur J Orthod ; 32(2): 177-85, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20083809

RESUMO

The objective of this study was to evaluate asymmetry of the parental craniofacial skeleton of subjects with a cleft lip, with or without cleft palate [CL(P)], and isolated cleft palate (CP). The postero-anterior (PA) cephalograms of 52 parents of children with CL(P) and 40 parents of children with CP from a sample of 196 children with non-syndromic clefts in the west of Scotland were analysed. A conventional cephalometric asymmetry analysis was used to evaluate size-related right:left asymmetry comprising eight linear distances, nine angular, and three facial area measurements. Right:left ratios of the mean values identified the direction of the asymmetry and two-sample t-tests determined statistical significance. A shape-related asymmetry analysis was also undertaken. The configurations of landmarks were optimally superimposed and scaled using Procrustes algorithms. Euclidean distance matrix analysis (EDMA) was then compared and the shape of the left and the right landmark configurations were statistically tested using a non-parametric bootstrap technique. For the parents of CL(P) children, size-related asymmetry was identified and the area of the craniofacial polygon was statistically significantly larger on the right than on the left side. EDMA detected the presence of shape-related asymmetry (T statistic = 1.304; P = 0.003). For the parents of CP children, although size-related asymmetry was identified, EDMA did not identify shape-related asymmetry (T statistic = 1.281; P = 0.065). Size and shape directional asymmetries are characteristic features of the parental craniofacial skeleton in CL(P). Although directional size asymmetry is present in the parental craniofacial skeleton in CP, shape asymmetry is not a characteristic feature.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Assimetria Facial/genética , Desenvolvimento Maxilofacial/genética , Adulto , Algoritmos , Cefalometria , Criança , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Análise Numérica Assistida por Computador , Pais , Estatísticas não Paramétricas
15.
J Community Genet ; 9(4): 387-396, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30218347

RESUMO

Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other epidemiological changes that could give early warning of environmental or infectious hazards. However, setting up a sustainable registry and surveillance system is resource-intensive requiring national infrastructure for recording all cases and diagnostic facilities to identify those malformations that that are not externally visible. Consequently, not all countries have yet established robust surveillance systems. For these countries, methods are needed to generate estimates of prevalence of these disorders which can act as a starting point for assessing disease burden and service implications. Here, we describe how registry data from high-income settings can be used for generating reference rates that can be used as provisional estimates for countries with little or no observational data on non-syndromic congenital malformations.

16.
J Dent Res ; 97(1): 41-48, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28886269

RESUMO

In contrast to the progress that has been made toward understanding the genetic etiology of cleft lip with or without cleft palate, relatively little is known about the genetic etiology for cleft palate only (CPO). A common coding variant of grainyhead like transcription factor 3 ( GRHL3) was recently shown to be associated with risk for CPO in Europeans. Mutations in this gene were also reported in families with Van der Woude syndrome. To identify rare mutations in GRHL3 that might explain the missing heritability for CPO, we sequenced GRHL3 in cases of CPO from Africa. We recruited participants from Ghana, Ethiopia, and Nigeria. This cohort included case-parent trios, cases and other family members, as well as controls. We sequenced exons of this gene in DNA from a total of 134 nonsyndromic cases. When possible, we sequenced them in parents to identify de novo mutations. Five novel mutations were identified: 2 missense (c.497C>A; p.Pro166His and c.1229A>G; p.Asp410Gly), 1 splice site (c.1282A>C p.Ser428Arg), 1 frameshift (c.470delC; p.Gly158Alafster55), and 1 nonsense (c.1677C>A; p.Tyr559Ter). These mutations were absent from 270 sequenced controls and from all public exome and whole genome databases, including the 1000 Genomes database (which includes data from Africa). However, 4 of the 5 mutations were present in unaffected mothers, indicating that their penetrance is incomplete. Interestingly, 1 mutation damaged a predicted sumoylation site, and another disrupted a predicted CK1 phosphorylation site. Overexpression assays in zebrafish and reporter assays in vitro indicated that 4 variants were functionally null or hypomorphic, while 1 was dominant negative. This study provides evidence that, as in Caucasian populations, mutations in GRHL3 contribute to the risk of nonsyndromic CPO in the African population.


Assuntos
População Negra/genética , Fissura Palatina/genética , Proteínas de Ligação a DNA/genética , Mutação com Perda de Função/genética , Fatores de Transcrição/genética , Animais , Códon sem Sentido/genética , Mutação da Fase de Leitura/genética , Estudo de Associação Genômica Ampla , Humanos , Mutagênese Sítio-Dirigida , Mutação de Sentido Incorreto/genética , Sítios de Splice de RNA/genética , Peixe-Zebra/embriologia , Peixe-Zebra/genética
17.
Br J Oral Maxillofac Surg ; 55(1): 31-36, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27608534

RESUMO

Our objective was to assess the accuracy of virtual and printed 3-dimensional models derived from cone-beam computed tomographic (CT) scans to measure the volume of alveolar clefts before bone grafting. Fifteen subjects with unilateral cleft lip and palate had i-CAT cone-beam CT scans recorded at 0.2mm voxel and sectioned transversely into slices 0.2mm thick using i-CAT Vision. Volumes of alveolar clefts were calculated using first a validated algorithm; secondly, commercially-available virtual 3-dimensional model software; and finally 3-dimensional printed models, which were scanned with microCT and analysed using 3-dimensional software. For inter-observer reliability, a two-way mixed model intraclass correlation coefficient (ICC) was used to evaluate the reproducibility of identification of the cranial and caudal limits of the clefts among three observers. We used a Friedman test to assess the significance of differences among the methods, and probabilities of less than 0.05 were accepted as significant. Inter-observer reliability was almost perfect (ICC=0.987). There were no significant differences among the three methods. Virtual and printed 3-dimensional models were as precise as the validated computer algorithm in the calculation of volumes of the alveolar cleft before bone grafting, but virtual 3-dimensional models were the most accurate with the smallest 95% CI and, subject to further investigation, could be a useful adjunct in clinical practice.


Assuntos
Enxerto de Osso Alveolar/métodos , Processo Alveolar/cirurgia , Impressão Tridimensional , Interface Usuário-Computador , Algoritmos , Processo Alveolar/diagnóstico por imagem , Processo Alveolar/patologia , Fenda Labial/diagnóstico por imagem , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Desenho Assistido por Computador , Tomografia Computadorizada de Feixe Cônico , Humanos , Reprodutibilidade dos Testes
18.
Br Dent J ; 221(8): 487-492, 2016 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-27767152

RESUMO

Background Undergraduate orthodontic teaching has been focused on developing an understanding of occlusal development in an effort to equip practitioners to make appropriate referrals for specialist-delivered care. However, there is a growing interest among general dentists in delivering more specialised treatments, including short-term orthodontic alignment. This study aimed to assess the levels of knowledge of occlusal problems among final year undergraduate dental students, as well as their interest in various orthodontics techniques and training.Methods A 36-item electronic questionnaire was sent to all final year undergraduate students in four dental institutes in the UK (Barts and the London, Kings College London, Cardiff and Dundee). The questionnaire explored satisfaction with undergraduate orthodontic teaching; students' perception of knowledge, based on General Dental Council learning outcomes; perceptions of the need for specialist involvement in the management of dental problems; interest in further training in orthodontics; and potential barriers to undertaking specialist training.Results The overall response rate was 66% (239/362). The majority of students (84.1%) were aware of GDC guidance in terms of undergraduate teaching. Students reported a preference for case-based and practical teaching sessions in orthodontics, with less interest in lectures or problem-based learning approaches. A high percentage were interested in further teaching in interceptive orthodontics (60.3%) and fixed appliance therapy (55.7%). Further training including specialist orthodontic training (36.4%), Invisalign (59%) and Six Month Smiles (41%) courses appealed to undergraduates. Levels of student debt, course fees and geographical issues were seen as potential barriers to formal, specialist training pathways.Conclusions Satisfaction with undergraduate orthodontic teaching is high and interest in further training, including specialist training pathways, continues to be high. While short-term orthodontics is not taught at undergraduate level, there appears to be an appetite to undertake alternatives to conventional orthodontics among dental students.


Assuntos
Educação em Odontologia , Ortodontia , Estudantes de Odontologia , Humanos , Londres , Inquéritos e Questionários , Ensino
19.
J Dent Res ; 95(11): 1245-56, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27369588

RESUMO

Orofacial clefts (OFCs) are congenital dysmorphologies of the human face and oral cavity, with a global incidence of 1 per 700 live births. These anomalies exhibit a multifactorial pattern of inheritance, with genetic and environmental factors both playing crucial roles. Many loci have been implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations of Asian and European ancestries, through genome-wide association studies and candidate gene studies. However, few populations of African descent have been studied to date. Here, the authors show evidence of an association of some loci with NSCL/P and nonsyndromic cleft palate only (NSCPO) in cohorts from Africa (Ghana, Ethiopia, and Nigeria). The authors genotyped 48 single-nucleotide polymorphisms that were selected from previous genome-wide association studies and candidate gene studies. These markers were successfully genotyped on 701 NSCL/P and 163 NSCPO cases, 1,070 unaffected relatives, and 1,078 unrelated controls. The authors also directly sequenced 7 genes in 184 nonsyndromic OFC (NSOFC) cases and 96 controls from Ghana. Population-specific associations were observed in the case-control analyses of the subpopulations, with West African subpopulations (Ghana and Nigeria) showing a similar pattern of associations. In meta-analyses of the case-control cohort, PAX7 (rs742071, P = 5.10 × 10(-3)), 8q24 (rs987525, P = 1.22 × 10(-3)), and VAX1 (rs7078160, P = 0.04) were nominally associated with NSCL/P, and MSX1 (rs115200552, P = 0.01), TULP4 (rs651333, P = 0.04), CRISPLD2 (rs4783099, P = 0.02), and NOG1 (rs17760296, P = 0.04) were nominally associated with NSCPO. Moreover, 7 loci exhibited evidence of threshold overtransmission in NSOFC cases through the transmission disequilibrium test and through analyses of the family-based association for disease traits. Through DNA sequencing, the authors also identified 2 novel, rare, potentially pathogenic variants (p.Asn323Asp and p.Lys426IlefsTer6) in ARHGAP29 In conclusion, the authors have shown evidence for the association of many loci with NSCL/P and NSCPO. To the best of this knowledge, this study is the first to demonstrate any of these association signals in any African population.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença/genética , Etiópia/epidemiologia , Feminino , Loci Gênicos/genética , Marcadores Genéticos/genética , Estudo de Associação Genômica Ampla , Gana/epidemiologia , Humanos , Masculino , Nigéria/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA
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