scholarly journals Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

2011 ◽  
Vol 14 (4) ◽  
pp. 305-315 ◽  
Author(s):  
Gareth Baynam ◽  
Peter Claes ◽  
Jeffrey M. Craig ◽  
Jack Goldblatt ◽  
Stefanie Kung ◽  
...  

For decades the relationships of twinning and alterations in body patterning, such as laterality and asymmetry, have been investigated. However, the tools to define and quantify these relationships have been limited and the majority of these studies have relied on associations with subjectively defined phenotypes. The emerging technologies of 3-dimensional (3D) facial scanning and geometric morphometrics are providing the means to establish objective criteria, including measures of asymmetry, which can be used for phenotypic classification and investigations. Additionally, advances in molecular epigenetics provide new opportunities for novel investigations of mechanisms central to early developmental processes, twinning and related phenotypes. We review the evidence for overlapping etiologies of twinning, asymmetry and selected monogenic and complex diseases, and we suggest that the combination of epigenetic investigations with detailed and objective phenotyping, utilizing 3D facial analysis tools, can reveal insights into the genesis of these phenomena.

2020 ◽  
Vol 130 (5) ◽  
pp. 478-485
Author(s):  
Fréderic E.G. Van de Velde ◽  
Alejandra Ortega-Castrillon ◽  
Laurent A.M. Thierens ◽  
Peter Claes ◽  
Guy A.M. De Pauw

2020 ◽  
pp. 00632-2020
Author(s):  
Kelvin Duong ◽  
Joel Glover ◽  
Alexander C. Perry ◽  
Deborah Olmstead ◽  
Mark Ungrin ◽  
...  

RationaleDelivery of continuous positive airway pressure (CPAP) is the standard treatment for obstructive sleep apnea (OSA) in children and adults. Treatment adherence is a major challenge as many patients find the CPAP mask uncomfortable. The study aim was to demonstrate the feasibility of delivered CPAP through customised nasal masks by assessing mask leak and comfort of customised masks compared to commercially available CPAP masks.MethodsSix healthy adult volunteers participated in a cross-over study including commercial masks in three different sizes (petite, small/medium, and large) from the same supplier and a customised mask fabricated for each subject using 3D facial scanning and modern additive manufacturing processes. Mask leak and comfort were assessed with varying CPAP levels and mask tightness. Leak was measured in real time using an inline low-resistance Pitot tube flow sensor, and each mask was ranked for comfort by the subjects.ResultsMask leak rates varied directly with CPAP level and inversely with mask tightness. When ranked for comfort, three subjects favoured the customised mask while three favoured a commercial mask. The petite mask yielded the highest mask leaks and was ranked least comfortable by all subjects. Relative mask leaks and comfort rankings for the other commercial and customised masks varied between individuals. Mask leak was comparable when comparing the customised masks with the highest ranked commercial masks.ConclusionCustomised masks successfully delivered target CPAP settings in all six subjects, demonstrating the feasibility of this approach.


2019 ◽  
Vol 40 (4) ◽  
pp. 499-509
Author(s):  
Marija Ilić ◽  
Vida Jojić ◽  
Gorana Stamenković ◽  
Vanja Marković ◽  
Vladica Simić ◽  
...  

Abstract We conducted a comparative (2D landmark-based geometric and traditional) morphometric analysis on tadpoles at early developmental stages. Two species of brown frog (Rana dalmatina and R. temporaria) and the common toad (Bufo bufo) were involved, all raised in the laboratory from fertilized eggs collected in their natural habitat. Taxonomic identification was confirmed by the DNA barcoding method with the 16S rRNA sequence as the gene marker. Interested to compare the methodologies for quantification and description of morphological differences among tadpoles of mentioned species, we aimed to: 1) calculate interspecies genetic distances as the most relevant measurement for species differentiation, 2) determine and describe size and shape variation, 3) identify relationships among the analyzed species at the morphological level and 4) assess their classification accuracy. Within the framework of the specified aims, both methodologies produced very similar results, i.e., the smallest divergence was between R. dalmatina and R. temporaria, while the most discriminative were B. bufo and R. temporaria. However, we observed subtle shape variation of the distal region of the tail that was detected only by the geometric morphometrics. Our findings support the following. Geometric morphometric method captures more subtle shape differences that were unable to be recovered from linear measurements. It performs slightly better in classification rate. Although it was not quantified, it stands to reason that there is no difference in time investment between the two approaches. Geometric morphometrics provides more information that can be leveraged to answer further questions and it has a clear advantage in visualizing.


2014 ◽  
pp. 1419-1432
Author(s):  
Mike A. Guest ◽  
Elizabeth Culhane ◽  
Daniel P. McDonald

The rapid pace of globalization around the world is associated with profound changes to how individuals and organizations communicate. Emerging technologies and applications in recent years, such as social networks and virtual workspace tools, are dramatically opening communication, collaboration, and learning opportunities. Such technologies provide a platform for efficient communication among individuals around the world. In parallel, evolution of simulation technologies (e.g., Virtual Environments [VE] and online gaming) over the last decade has resulted in cost-effective, widely-accessible interactive environments that provide rich user experiences (e.g., 3-dimensional). These technology developments represent significant changes in the way that individuals interact with one another, and bring new challenges and opportunities for diversity management. This chapter discusses the current state of emerging technologies and implications for diversity management.


2017 ◽  
Vol 5 ◽  
Author(s):  
Gareth Baynam ◽  
Alicia Bauskis ◽  
Nicholas Pachter ◽  
Lyn Schofield ◽  
Hedwig Verhoef ◽  
...  

Science ◽  
1933 ◽  
Vol 77 (1999) ◽  
pp. 396-396 ◽  
Author(s):  
G. P. Child ◽  
R. B. Howland

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