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1.
PLoS One ; 16(10): e0257923, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34648520

RESUMO

Facial imaging and facial recognition technologies, now common in our daily lives, also are increasingly incorporated into health care processes, enabling touch-free appointment check-in, matching patients accurately, and assisting with the diagnosis of certain medical conditions. The use, sharing, and storage of facial data is expected to expand in coming years, yet little is documented about the perspectives of patients and participants regarding these uses. We developed a pair of surveys to gather public perspectives on uses of facial images and facial recognition technologies in healthcare and in health-related research in the United States. We used Qualtrics Panels to collect responses from general public respondents using two complementary and overlapping survey instruments; one focused on six types of biometrics (including facial images and DNA) and their uses in a wide range of societal contexts (including healthcare and research) and the other focused on facial imaging, facial recognition technology, and related data practices in health and research contexts specifically. We collected responses from a diverse group of 4,048 adults in the United States (2,038 and 2,010, from each survey respectively). A majority of respondents (55.5%) indicated they were equally worried about the privacy of medical records, DNA, and facial images collected for precision health research. A vignette was used to gauge willingness to participate in a hypothetical precision health study, with respondents split as willing to (39.6%), unwilling to (30.1%), and unsure about (30.3%) participating. Nearly one-quarter of respondents (24.8%) reported they would prefer to opt out of the DNA component of a study, and 22.0% reported they would prefer to opt out of both the DNA and facial imaging component of the study. Few indicated willingness to pay a fee to opt-out of the collection of their research data. Finally, respondents were offered options for ideal governance design of their data, as "open science"; "gated science"; and "closed science." No option elicited a majority response. Our findings indicate that while a majority of research participants might be comfortable with facial images and facial recognition technologies in healthcare and health-related research, a significant fraction expressed concern for the privacy of their own face-based data, similar to the privacy concerns of DNA data and medical records. A nuanced approach to uses of face-based data in healthcare and health-related research is needed, taking into consideration storage protection plans and the contexts of use.

2.
PLoS Genet ; 17(8): e1009695, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34411106

RESUMO

Facial morphology is highly variable, both within and among human populations, and a sizable portion of this variation is attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects of normal-range facial variation. Most of these loci have been detected in Europeans, with few studies focusing on other ancestral groups. Consequently, the degree to which facial traits share a common genetic basis across diverse sets of humans remains largely unknown. We therefore investigated the genetic basis of facial morphology in an East African cohort. We applied an open-ended data-driven phenotyping approach to a sample of 2,595 3D facial images collected on Tanzanian children. This approach segments the face into hierarchically arranged, multivariate features that capture the shape variation after adjusting for age, sex, height, weight, facial size and population stratification. Genome scans of these multivariate shape phenotypes revealed significant (p < 2.5 × 10-8) signals at 20 loci, which were enriched for active chromatin elements in human cranial neural crest cells and embryonic craniofacial tissue, consistent with an early developmental origin of the facial variation. Two of these associations were in highly conserved regions showing craniofacial-specific enhancer activity during embryological development (5q31.1 and 12q21.31). Six of the 20 loci surpassed a stricter threshold accounting for multiple phenotypes with study-wide significance (p < 6.25 × 10-10). Cross-population comparisons indicated 10 association signals were shared with Europeans (seven sharing the same associated SNP), and facilitated fine-mapping of causal variants at previously reported loci. Taken together, these results may point to both shared and population-specific components to the genetic architecture of facial variation.


Assuntos
Grupo com Ancestrais do Continente Africano/genética , Grupo com Ancestrais do Continente Europeu/genética , Face/anatomia & histologia , Estudo de Associação Genômica Ampla/métodos , Locos de Características Quantitativas , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Polimorfismo de Nucleotídeo Único , Tanzânia , Adulto Jovem
3.
Orthod Craniofac Res ; 2021 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-34310057

RESUMO

OBJECTIVES: Palatal shape contains a lot of information that is of clinical interest. Moreover, palatal shape analysis can be used to guide or evaluate orthodontic treatments. A statistical shape model (SSM) is a tool that, by means of dimensionality reduction, aims at compactly modeling the variance of complex shapes for efficient analysis. In this report, we evaluate several competing approaches to constructing SSMs for the human palate. SETTING AND SAMPLE POPULATION: This study used a sample comprising digitized 3D maxillary dental casts from 1,324 individuals. MATERIALS AND METHODS: Principal component analysis (PCA) and autoencoders (AE) are popular approaches to construct SSMs. PCA is a dimension reduction technique that provides a compact description of shapes by uncorrelated variables. AEs are situated in the field of deep learning and provide a non-linear framework for dimension reduction. This work introduces the singular autoencoder (SAE), a hybrid approach that combines the most important properties of PCA and AEs. We assess the performance of the SAE using standard evaluation tools for SSMs, including accuracy, generalization, and specificity. RESULTS: We found that the SAE obtains equivalent results to PCA and AEs for all evaluation metrics. SAE scores were found to be uncorrelated and provided an optimally compact representation of the shapes. CONCLUSION: We conclude that the SAE is a promising tool for 3D palatal shape analysis, which effectively combines the power of PCA with the flexibility of deep learning. This opens future AI driven applications of shape analysis in orthodontics and other related clinical disciplines.

4.
Sci Rep ; 11(1): 12175, 2021 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-34108542

RESUMO

Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. Facial anthropometric growth curves or standards of single inter-landmark measurements have traditionally supported assessments of normal and abnormal facial shape, for both clinical and research applications. However, these fail to capture the full complexity of facial shape. With the increasing availability of 3D photographs, methods of assessment that take advantage of the rich information contained in such images are needed. In this article we derive and present open-source three-dimensional (3D) growth curves of the human face. These are sequences of age and sex-specific expected 3D facial shapes and statistical models of the variation around the expected shape, derived from 5443 3D images. We demonstrate the use of these growth curves for assessing patients and show that they identify normal and abnormal facial morphology independent from age-specific facial features. 3D growth curves can facilitate use of state-of-the-art 3D facial shape assessment by the broader clinical and biomedical research community. This advance in phenotype description will support clinical diagnosis and the understanding of disease pathogenesis including genotype-phenotype relations.


Assuntos
Anormalidades Múltiplas/patologia , Anormalidades Craniofaciais/patologia , Face/patologia , Imageamento Tridimensional/métodos , Modelos Estatísticos , Atrofia Muscular/patologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antropometria , Estudos de Casos e Controles , Criança , Pré-Escolar , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/metabolismo , Face/anormalidades , Feminino , Seguimentos , Gráficos de Crescimento , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Atrofia Muscular/genética , Atrofia Muscular/metabolismo , Fenótipo , Prognóstico , Adulto Jovem
5.
Eur J Orthod ; 2021 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-34180974

RESUMO

OBJECTIVE: Quantification and visualization of the location and magnitude of facial asymmetry is important for diagnosis and treatment planning. The objective of this study was to analyze the asymmetric features of the face for skeletal Class III patients using spatially-dense geometric morphometrics. METHODS: Three-dimensional facial images were obtained for 86 skeletal Class III patients. About 7160 uniformly sampled quasi-landmarks were automatically identified on each face using template mapping technique. The pointwise surface-to-surface distance between original and mirror face was measured and visualized for the whole face after robust Procrustes superimposition. The degree of overall asymmetry in an individual was scored using a root-mean-squared-error. Automatic partitioning of the face was obtained, and the severity of the asymmetry compared among seven facial regions. RESULTS: Facial asymmetry was mainly located on, but not limited to, the lower two-thirds of the face in skeletal Class III patients. The lower cheek and nose asymmetry were detected to have more extensive and of a greater magnitude of asymmetry than other facial anatomical regions but with various individual variations. The overall facial asymmetry index and the regional facial asymmetry indices were higher in males and patients with chin deviation. CONCLUSIONS: Soft tissue asymmetry is predominately presented in the lower-third of the face in skeletal Class III patients and with various variations on other facial anatomical regions. Morphometric techniques and computer intensive analysis have allowed sophisticated quantification and visualization of the pointwise asymmetry on the full face.

6.
Orthod Craniofac Res ; 2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-34169645

RESUMO

OBJECTIVES: To develop and evaluate a geometric deep-learning network to automatically place seven palatal landmarks on digitized maxillary dental casts. SETTINGS AND SAMPLE POPULATION: The sample comprised individuals with permanent dentition of various ethnicities. The network was trained from manual landmark annotations on 732 dental casts and evaluated on 104 dental casts. MATERIALS AND METHODS: A geometric deep-learning network was developed to hierarchically learn features from point-clouds representing the 3D surface of each cast. These features predict the locations of seven palatal landmarks. RESULTS: Repeat-measurement reliability was <0.3 mm for all landmarks on all casts. Accuracy is promising. The proportion of test subjects with errors less than 2 mm was between 0.93 and 0.68, depending on the landmark. Unusually shaped and large palates generate the highest errors. There was no evidence for a difference in mean palatal shape estimated from manual compared to the automatic landmarking. The automatic landmarking reduces sample variation around the mean and reduces measurements of palatal size. CONCLUSIONS: The automatic landmarking method shows excellent repeatability and promising accuracy, which can streamline patient assessment and research studies. However, landmark indications should be subject to visual quality control.

7.
PLoS Genet ; 17(5): e1009528, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33983923

RESUMO

The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report on a data-driven, family-informed strategy to facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D facial shape variability into amendable univariate measurements, while preserving its structurally complex nature. We performed a biometric identification of siblings in a sample of 424 children, defining 1,048 sib-shared facial traits. Subsequent quantification and analyses in an independent European cohort (n = 8,246) demonstrated significant heritability for a subset of traits (0.17-0.53) and highlighted 218 genome-wide significant loci (38 also study-wide) associated with facial variation shared by siblings. These loci showed preferential enrichment for active chromatin marks in cranial neural crest cells and embryonic craniofacial tissues and several regions harbor putative craniofacial genes, thereby enhancing our knowledge on the genetic architecture of normal-range facial variation.


Assuntos
Identificação Biométrica , Face/anatomia & histologia , Genômica , Imageamento Tridimensional , Herança Multifatorial/genética , Fenótipo , Irmãos , Adolescente , Criança , Pré-Escolar , Anormalidades Craniofaciais/genética , Conjuntos de Dados como Assunto , Europa (Continente)/etnologia , Grupo com Ancestrais do Continente Europeu/genética , Face/anormalidades , Face/embriologia , Feminino , Estudos de Associação Genética , Humanos , Masculino
8.
Nat Genet ; 53(6): 830-839, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33821002

RESUMO

Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face cross-talk. Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain-face genome-wide association study signals and variants affecting behavioral-cognitive traits. These results suggest that early in embryogenesis, the face and brain mutually shape each other through both structural effects and paracrine signaling, but this interplay may not impact later brain development associated with cognitive function.


Assuntos
Encéfalo/anatomia & histologia , Face/anatomia & histologia , Padrões de Herança/genética , Adulto , Idoso , Comportamento , Cognição , Feminino , Loci Gênicos , Estudo de Associação Genômica Ampla , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos Mentais/genética , Pessoa de Meia-Idade , Análise Multivariada
9.
HGG Adv ; 2(2)2021 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-33817668

RESUMO

Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft - cleft lip (CL) and cleft lip and palate (CLP) - as well as other features, such as the severity of the cleft. Here, we focus on bilateral and unilateral clefts as one dimension of OFC severity, because the genetic architecture of these subtypes is not well understood. We tested for subtype-specific genetic associations in 44 bilateral CL (BCL) cases, 434 unilateral CL (UCL) cases, 530 bilateral CLP cases (BCLP), 1123 unilateral CLP (UCLP) cases, and unrelated controls (N = 1626), using a mixed-model approach. While no novel loci were found, the genetic architecture of UCL was distinct compared to BCL, with 44.03% of suggestive loci having different effects between the two subtypes. To further understand the subtype-specific genetic risk factors, we performed a genome-wide scan for modifiers and found a significant modifier locus on 20p11 (p=7.53×10-9), 300kb downstream of PAX1, that associated with higher odds of BCL vs. UCL, and replicated in an independent cohort (p=0.0018) with no effect in BCLP (p>0.05). We further found that this locus was associated with normal human nasal shape. Taken together, these results suggest bilateral and unilateral clefts may have different genetic architectures. Moreover, our results suggest BCL, the rarest form of OFC, may be genetically distinct from the other OFC subtypes. This expands our understanding of modifiers for OFC subtypes and further elucidates the genetic mechanisms behind the phenotypic heterogeneity in OFCs.

10.
Comput Methods Programs Biomed ; 205: 106093, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33882417

RESUMO

Background and Objective; Genetic risk factors for childhood cancer may also influence facial morphology. 3D photography can be used in the recognition of differences in face shape among individuals. In previous research, 3D facial photography was used to identify increased facial asymmetry and greater deviation from normal facial morphology in a group of individuals with distinct morphological features who had childhood cancer compared to healthy controls. In this study, we aim to determine whether there is a difference in facial morphology between children with cancer without previously selected morphological features and healthy controls, detected with 3D facial photography. METHODS: Facial 3D photographic images were obtained of children with a newly diagnosed malignancy. The resulting sample comprised 13 different cancer types. Patients were excluded if they had a known genetic cause of the cancer. Patients were compared to healthy controls, matched for sex, age and ethnic background. The degree of asymmetry and overall deviation of an individual's face from an age and sex typical control face were measured. RESULTS: A total of 163 patients of European descent were included. No significant difference in asymmetry between patients and controls could be identified. On average, patients deviated more from an age and sex typical face than the controls. CONCLUSION: This study shows that children with cancer deviate more than controls, possibly suggesting a higher prevalence of genetic anomalies within this group. The results suggest that this is not sufficient to discriminate patients from controls. Further research is necessary to explore the patterns of individual variation among the overall deviation of patients and controls.


Assuntos
Imageamento Tridimensional , Neoplasias , Criança , Face , Assimetria Facial/diagnóstico por imagem , Humanos , Fotografação
11.
Autism Res ; 14(7): 1404-1420, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33704930

RESUMO

Difficulties in automatic emotion processing in individuals with autism spectrum disorder (ASD) might remain concealed in behavioral studies due to compensatory strategies. To gain more insight in the mechanisms underlying facial emotion recognition, we recorded eye tracking and facial mimicry data of 20 school-aged boys with ASD and 20 matched typically developing controls while performing an explicit emotion recognition task. Proportional looking times to specific face regions (eyes, nose, and mouth) and face exploration dynamics were analyzed. In addition, facial mimicry was assessed. Boys with ASD and controls were equally capable to recognize expressions and did not differ in proportional looking times, and number and duration of fixations. Yet, specific facial expressions elicited particular gaze patterns, especially within the control group. Both groups showed similar face scanning dynamics, although boys with ASD demonstrated smaller saccadic amplitudes. Regarding the facial mimicry, we found no emotion specific facial responses and no group differences in the responses to the displayed facial expressions. Our results indicate that boys with and without ASD employ similar eye gaze strategies to recognize facial expressions. Smaller saccadic amplitudes in boys with ASD might indicate a less exploratory face processing strategy. Yet, this slightly more persistent visual scanning behavior in boys with ASD does not imply less efficient emotion information processing, given the similar behavioral performance. Results on the facial mimicry data indicate similar facial responses to emotional faces in boys with and without ASD. LAY SUMMARY: We investigated (i) whether boys with and without autism apply different face exploration strategies when recognizing facial expressions and (ii) whether they mimic the displayed facial expression to a similar extent. We found that boys with and without ASD recognize facial expressions equally well, and that both groups show similar facial reactions to the displayed facial emotions. Yet, boys with ASD visually explored the faces slightly less than the boys without ASD.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Reconhecimento Facial , Transtorno do Espectro Autista/complicações , Transtorno Autístico/complicações , Criança , Emoções , Tecnologia de Rastreamento Ocular , Expressão Facial , Humanos , Masculino
12.
Symmetry (Basel) ; 13(2)2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33664983

RESUMO

Background: Fluctuating asymmetry is often used as an indicator of developmental instability, and is proposed as a signal of genetic quality. The display of prominent masculine phenotypic features, which are a direct result of high androgen levels, is also believed to be a sign of genetic quality, as these hormones may act as immunosuppressants. Fluctuating asymmetry and masculinity are therefore expected to covary. However, there is lack of strong evidence in the literature regarding this hypothesis. Materials and methods: In this study, we examined a large dataset of high-density 3D facial scans of 1260 adults (630 males and 630 females). We mapped a high-density 3D facial mask onto the facial scans in order to obtain a high number of quasi-landmarks on the faces. Multi-dimensional measures of fluctuating asymmetry were extracted from the landmarks using Principal Component Analysis, and masculinity/femininity scores were obtained for each face using Partial Least Squares. The possible correlation between these two qualities was then examined using Pearson's coefficient and Canonical Correlation Analysis. Results: We found no correlation between fluctuating asymmetry and masculinity in men. However, a weak but significant correlation was found between average fluctuating asymmetry and masculinity in women, in which feminine faces had higher levels of fluctuating asymmetry on average. This correlation could possibly point to genetic quality as an underlying mechanism for both asymmetry and masculinity; however, it might also be driven by other fitness or life history traits, such as fertility. Conclusions: Our results question the idea that fluctuating asymmetry and masculinity should be (more strongly) correlated in men, which is in line with the recent literature. Future studies should possibly focus more on the evolutionary relevance of the observed correlation in women.

13.
Front Genet ; 12: 626403, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33692830

RESUMO

Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/P) show distinctive facial features. The presence of this facial endophenotype is potentially an expression of underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore this hypothesis, we first partitioned the face into 63 partially overlapping regions representing global-to-local facial morphology and then defined endophenotypic traits by contrasting the 3D facial images from 264 unaffected parents of individuals with NSCL/P versus 3,171 controls. We observed distinct facial features between parents and controls across 59 global-to-local facial segments at nominal significance (p ≤ 0.05) and 52 segments at Bonferroni corrected significance (p < 1.2 × 10-3), respectively. Next, we quantified these distinct facial features as univariate traits in another dataset of 8,246 unaffected European individuals and performed a genome-wide association study. We identified 29 independent genetic loci that were associated (p < 5 × 10-8) with at least one of the tested endophenotypic traits, and nine genetic loci also passed the study-wide threshold (p < 8.47 × 10-10). Of the 29 loci, 22 were in proximity of loci previously associated with normal facial variation, 18 were near genes that show strong evidence in orofacial clefting (OFC), and another 10 showed some evidence in OFC. Additionally, polygenic risk scores for NSCL/P showed associations with the endophenotypic traits. This study thus supports the hypothesis of a shared genetic architecture of normal facial development and OFC.

14.
Adapt Human Behav Physiol ; 7(1): 73-88, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33575162

RESUMO

Studies suggest that high levels of masculinity in men can be a signal of 'better genes' as well as low parental investment. It is the trade-off between these two qualities that has led to the hypothesis that women's preferences for male masculinity are condition-dependent, yet, not all studies support this hypothesis. In addition, there is evidence that more average faces would be perceived as more attractive. Here we study the variation in masculinity preferences of a cohort of heterosexual women (n=769), using manipulated 3D faces of male subjects. We used linear mixed models to test for effects of various covariates such as relationship status, use of hormonal contraception, sociosexual orientation and self-perceived attractiveness on preference for masculinity. Our results show that women's sociosexual orientation has a positive correlation with masculinity preference while using hormonal contraception decreases this preference. None of the other covariates displayed any significant effect on masculinity preference. The initial level of masculinity of the faces (very low, low, average, high and very high) was also shown to affect this preference, where we found a significant preference for higher masculinity in the very low and average group, while no preference was found in the other groups. Our findings support the notion that condition-dependent variables have very small effects, if any, on women's preference for masculinity in men.

15.
Sci Rep ; 11(1): 748, 2021 01 12.
Artigo em Inglês | MEDLINE | ID: mdl-33436952

RESUMO

The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF < 1%) in 8091 genes on multi-dimensional facial shape phenotypes in a European cohort of 2329 healthy individuals. Using three-dimensional images, we partitioned the full face into 31 hierarchically arranged segments to model facial morphology at multiple levels, and generated multi-dimensional phenotypes representing the shape variation within each segment. We used MultiSKAT, a multivariate kernel regression approach to scan the exome for face-associated low-frequency variants in a gene-based manner. After accounting for multiple tests, seven genes (AR, CARS2, FTSJ1, HFE, LTB4R, TELO2, NECTIN1) were significantly associated with shape variation of the cheek, chin, nose and mouth areas. These genes displayed a wide range of phenotypic effects, with some impacting the full face and others affecting localized regions. The missense variant rs142863092 in NECTIN1 had a significant effect on chin morphology and was predicted bioinformatically to have a deleterious effect on protein function. Notably, NECTIN1 is an established craniofacial gene that underlies a human syndrome that includes a mandibular phenotype. We further showed that nectin1a mutations can affect zebrafish craniofacial development, with the size and shape of the mandibular cartilage altered in mutant animals. Findings from this study expanded our understanding of the genetic basis of normal-range facial shape by highlighting the role of low-frequency coding variants in several novel genes.


Assuntos
Grupo com Ancestrais do Continente Europeu/genética , Face/anatomia & histologia , Nectinas/genética , Fenótipo , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Animais , Criança , Pré-Escolar , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Adulto Jovem , Peixe-Zebra
16.
J Shoulder Elbow Surg ; 30(5): 1095-1106, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32822879

RESUMO

HYPOTHESIS AND BACKGROUND: Rotator cuff tear arthropathy (RCTA) is a pathology characterized by a massive rotator cuff tear combined with acromiohumeral and/or glenohumeral arthritis. The severity of RCTA can be staged according to the Hamada classification. Why RCTA develops in some patients is unknown. Furthermore, in RCTA patients, distinctly different articular damage patterns can develop on the glenoid side as categorized by the Sirveaux classification (glenoid erosion). The goal of this study was to determine whether an association exists between scapular anatomy and RCTA and different severity stages of RCTA, as well as the associated glenoid erosion types. METHODS: A statistical shape model of the scapula was constructed from a data set of 110 computed tomography scans using principal component analysis. Sixty-six patients with degenerative rotator cuff pathology formed the control group. The computed tomography scan images of 89 patients with RCTA were included and grouped according to the Hamada and Sirveaux classifications. A complete 3-dimensional scapular bone model was created, and statistical shape model reconstruction was performed. Next, automated 3-dimensional measurements of glenoid version and inclination, scapular offset, the critical shoulder angle (CSA), the posterior acromial slope (PAS), and the lateral acromial angle (LAA) were performed. All measurements were then compared between controls and RCTA patients. RESULTS: The control group had a median of 7° of retroversion (variance, 16°), 8° of superior inclination (variance, 19°), and 106 mm of scapular offset (variance, 58 mm). The median CSA, PAS, and LAA were 30° (variance, 14°), 65° (variance, 60°), and 90° (variance, 17°), respectively. In terms of inclination, version, scapular offset, and the PAS, we found no statistically significant differences between the RCTA and control groups. For RCTA patients, the median CSA and median LAA were 32° (P ≤ .01) and 86° (P ≤ .01), respectively. For all investigated parameters, we did not find any significant difference between the different stages of RCTA. Patients with type E3 erosion had a different pre-arthropathy anatomy with increased retroversion (12°, P = .006), an increased CSA (40°, P ≤ .001), and a reduced LAA (79°, P ≤ .001). DISCUSSION: Our results seem to indicate that a 4° more inferiorly tilted and 2° more laterally extended acromion is associated with RCTA. RCTA patients in whom type E3 erosion develops have a distinct pre-arthropathy scapular anatomy with a more laterally extended and more inferiorly tilted acromion and a more retroverted glenoid in comparison with RCTA patients with no erosion. The pre-arthropathy scapular anatomy does not seem to differ between patients with different stages of RCTA.


Assuntos
Artropatias , Osteoartrite , Lesões do Manguito Rotador , Artropatia de Ruptura do Manguito Rotador , Articulação do Ombro , Humanos , Lesões do Manguito Rotador/diagnóstico por imagem , Escápula/diagnóstico por imagem , Articulação do Ombro/diagnóstico por imagem
17.
Nat Genet ; 53(1): 45-53, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33288918

RESUMO

The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.


Assuntos
Face/anatomia & histologia , Estudo de Associação Genômica Ampla , Acetilação , Elementos Facilitadores Genéticos/genética , Epistasia Genética , Extremidades/embriologia , Face/embriologia , Loci Gênicos , Histonas/metabolismo , Humanos , Lisina/metabolismo , Metanálise como Assunto , Análise Multivariada , Crista Neural/citologia , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Crânio/embriologia , Reino Unido , Estados Unidos
18.
Plast Reconstr Surg Glob Open ; 8(5): e2847, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-33154878

RESUMO

Three-dimensional (3D) photography is becoming widely used in plastic surgery. It provides an accurate and reproducible record of the facial surface anatomy and could be a versatile tool for treatment planning and assessment. However, the existing software tools available for the assessment of 3D facial imaging often give highly misleading results. The goal of this special topic article is to give clinicians an insight into methods of 3D image assessment and explain the reasons why results may be misleading. We point toward the advantages of an alternative approach using "nonrigid surface registration" for the comparison of pre- and postsurgical images. This approach is compared with the regular rigid surface registration, and this is illustrated by the assessment of a child with Crouzon syndrome before and after LeFort III osteotomy and distraction. Findings of the standard method imply that changes have occurred that are anatomically not possible, whereas the alternative approach indicates realistic changes. Furthermore, we demonstrate an exciting capacity of 3D image analysis to construct reference populations of normal head size and shape. These can be used to assess the parts of the head that are normal and abnormal pre- and posttreatment of the same child. We conclude that, while 3D image analysis has great potential in surgical assessment, existing software does not always give an adequate assessment. Collaboration among surgeons and engineering and computer science specialists should be encouraged. This way, more comprehensive and accurate techniques in patient assessment and surgical planning can be developed and applied in clinical practice.

19.
Acta Clin Belg ; : 1-6, 2020 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-33070766

RESUMO

OBJECTIVES: To examine the added value of anti-SARS-CoV-2 antibody testing in a nursing home during an acute COVID-19 outbreak. RT-PCR is the gold standard, but can be false-negative. METHODS: 119 residents and 93 staff members were tested with RT-PCR test and/or a rapid IgM/IgG test. Of these participants, 176 had both tests, 24 only RT-PCR, and 12 only IgM/IgG in the period April 14 to 16 April 2020. RESULTS: 40 (34%) residents and 11 (13%) staff were PCR-positive. Using a rapid IgM/IgG test, 17 (17%) residents and 18 (20%) staff were positive for IgM and/or IgG (IgM/IgG). Thirty-two PCR-positive residents had an IgM/IgG test: 9 (28%), 11 (34%), and 13 (41%) were positive for IgM, IgG, and IgM/IgG. Ten PCR-positive staff had an IgM/IgG test: 3 (30%), 6 (60%), and 6 (60%) were positive for IgM, IgG, and IgM/IgG. Additional IgM/IgG tests were performed in 9 residents 11 to 14 days after the positive RT-PCR test. Of those, 7 (78%) tested positive for IgM/IgG. When retested 3 weeks later, the 2 remaining residents also tested positive. Of the 134 PCR-negative participants who had an IgM/IgG test, 15 were positive for IgM/IgG (8% of the 200 participants tested with RT-PCR). CONCLUSIONS: During an acute outbreak in a nursing home, 26% of residents and staff were PCR-positive. An additional 8% was diagnosed using IgM/IgG antibody testing. The use of RT-PCR alone as the sole diagnostic method for surveillance during an acute outbreak is insufficient to grab the full extent of the outbreak.

20.
Am J Orthod Dentofacial Orthop ; 158(2): 286-299, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32746977

RESUMO

INTRODUCTION: Although stereophotogrammetry is increasingly popular for 3-dimensional face scanning, commercial solutions remain quite expensive, limiting its accessibility. We propose a more affordable, custom-built photogrammetry setup (Stereo-Face 3D, SF3D) and evaluate its variability within and between systems. METHODS: Twenty-nine subjects and a mannequin head were imaged 3 times using SF3D and a commercially available system. An anthropometric mask was mapped viscoelastically onto the reconstructed meshes using MeshMonk (https://github.com/TheWebMonks/meshmonk). Within systems, shape variability was determined by calculating the root-mean-square error (RMSE) of the Procrustes distance between each of the subject's 3 scans and the subject's ground truth (calculated by averaging the mappings after a nonscaled generalized Procrustes superimposition). Intersystem variability was determined by similarly comparing the ground truth mappings of both systems. Two-factor Procrustes analysis of variance was used to partition the intersystem shape variability to understand the source of the discrepancies between the facial shapes acquired by both systems. RESULTS: The RMSEs of the within-system shape variability for 3dMDFace and SF3D were 0.52 ± 0.07 mm and 0.44 ± 0.16 mm, respectively. The corresponding values for the mannequin head were 0.42 ± 0.02 mm and 0.29 ± 0.03 mm, respectively. The between-systems RMSE was 1.6 ± 0.34 mm for the study group and 1.38 mm for the mannequin head. A 2-factor analysis indicated that variability attributable to the system was expressed mainly at the upper eyelids, nasal tip and alae, and chin areas. CONCLUSIONS: The variability values of the custom-built setup presented here were competitive to a state-of-the-art commercial system at a more affordable level of investment.


Assuntos
Fotogrametria , Implantes Dentários , Face , Imageamento Tridimensional
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