Reliability and Agreement of 3D Anthropometric Measurements in Facial Palsy Patients Using a Low-Cost 4D Imaging System

The reliability (precision) and agreement (accuracy) of anthropometric measurements based on manually placed 3D landmarks using the RealSense D415 were investigated in this paper. Thirty facial palsy patients, with their face in neutral (resting) position, were recorded simultaneously with the RealSense and a professional 3dMD imaging system. First the RealSense depth accuracy was determined. Subsequently, two observers placed 14 facial landmarks on the 3dMD and RealSense image, assessing the distance between landmark placement. The respective intra- and inter-rater Euclidean distance between the landmark placements was 0.84 mm (±0.58) and 1.00 mm (±0.70) for the 3dMD landmarks and 1.32 mm (±1.27) and 1.62 mm (±1.42) for the RealSense landmarks. From these landmarks 14 anthropometric measurements were derived. The intra- and inter-rater measurements had an overall reliability of 0.95 (0.87 - 0.98) and 0.93 (0.85 - 0.97) for the 3dMD measurements, and 0.83 (0.70 - 0.91) and 0.80 (0.64 - 0.89) for the RealSense measurements, respectively, expressed as the intra-class correlation coefficient. Determined by the Bland-Altman analysis, the agreement between the RealSense measurements and 3dMD measurements was on average -0.90 mm (-4.04 - 2.24) and -0.89 mm (-4.65 - 2.86) for intra- and inter-rater agreement, respectively. Based on the reported reliability and agreement of the RealSense measurements, the RealSense D415 can be considered as a viable option to perform objective 3D anthropomorphic measurements on the face in a neutral position, where a low-cost and portable camera is required

3D stereophotogrammetry for the assessment of tracheostoma anatomy

Conclusion. 3D stereophotogrammetry is a useful tool for quantitative assessment of tracheostoma anatomy, and thus in future could possibly play a role in solving current problems with peristomal and intratracheal fixation of stoma appliances. Objectives. Differences in tracheostoma anatomy between laryngectomized patients are held partly responsible for the differences in duration of attachment of standard peristomal adhesives for heat and moisture exchangers (HMEs) and automatic stoma valves (ASVs). Accurate information on a set of basic stoma anatomy parameters should be helpful to overcome fixation problems in individual patients and in the general laryngectomy population. Patients and methods. This was an exploratory observational pilot study in 20 laryngectomized patients. Three-dimensional (3D) images of the tracheostoma and surrounding tissue were captured with a 3D digital camera, which applies the advanced principles of stereophotogrammetry. Data were analysed by using a 3D editing program. The following tracheostoma parameters were measured for each patient: horizontal and vertical diameters, circumference, depth and surface. Results. Inter-observer outcomes show a mean stoma circumference of 58.2 mm (SD 11.6 mm). The mean surface was calculated at 186.6 mm2 (SD 61 mm(2)). The mean size of the stoma's horizontal diameter and vertical diameter was 14.7 mm (SD 2.9 mm) and 19.0 mm (SD 3.4 mm), respectively. The mean depth of the stoma in relation to the right sternal head of the m. sternocleidomastoideus was 15.5 mm (SD 5.4 mm) and in relation to the left it was 16 mm (SD 5.6 mm)

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 (p-value of the lead SNV: 4.17 × 10-7). This association was replicated in two of three patient/control replication series (Central European and Yemeni). Gene analysis of the GWAS data prioritized SH3PXD2A at chromosome 10q24.33 as a candidate gene for nsCL/P. To date, support for this gene as a cleft gene has been restricted to data from zebrafish and a knockout mouse model. The present GWAS was the first to implicate SH3PXD2A in non-syndromic cleft formation in humans. In summary, although performed in a relatively small sample, the present GWAS generated novel insights into nsCL/P etiology.status: publishe

Non-Syndromic Cleft Lip with or without Cleft Palate:Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 (p-value of the lead SNV: 4.17 × 10−7). This association was replicated in two of three patient/control replication series (Central European and Yemeni). Gene analysis of the GWAS data prioritized SH3PXD2A at chromosome 10q24.33 as a candidate gene for nsCL/P. To date, support for this gene as a cleft gene has been restricted to data from zebrafish and a knockout mouse model. The present GWAS was the first to implicate SH3PXD2A in non-syndromic cleft formation in humans. In summary, although performed in a relatively small sample, the present GWAS generated novel insights into nsCL/P etiology

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Contains fulltext : 80032.pdf (publisher's version ) (Closed access)We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10(-24). The odds ratio was 2.57 (95% CI = 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P

AGORA, a data- and biobank for birth defects and childhood cancer

BACKGROUNDResearch regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and biobank in the Netherlands. In this study, we describe its rationale, design, and ongoing data collection. METHODSChildren diagnosed with and/or treated for a structural birth defect or childhood cancer and their parents are invited to participate in the AGORA data- and biobank. Controls are recruited through random sampling from municipal registries. The parents receive questionnaires about demographics, family and pregnancy history, health status, prescribed medication, lifestyle, and occupational exposures before and during the index pregnancy. In addition, blood or saliva is collected from children and parents, while medical records are reviewed for diagnostic information. RESULTSSo far, we have collected data from over 6,860 families (3,747 birth defects, 905 childhood cancers, and 2,208 controls). The types of birth defects vary widely and comprise malformations of the digestive, respiratory, and urogenital tracts as well as facial, cardiovascular, kidney, skeletal, and central nervous system anomalies. The most frequently occurring childhood cancer types are acute lymphatic leukemia, Hodgkin and non-Hodgkin lymphoma, Wilms' tumor, and brain and spinal cord tumors. Our genetic and/or epidemiologic studies have been focused on hypospadias, anorectal malformations, congenital anomalies of the kidney and urinary tract (CAKUT), and orofacial clefts. CONCLUSIONThe large AGORA data- and biobank offers great opportunities for investigating genetic and nongenetic risk factors for disorders in children and is open to collaborative initiatives. Birth Defects Research (Part A) 106:675-684, 2016. (c) 2016 Wiley Periodicals, Inc