Genetic mechanisms underlying East Asian and European Facial differentiation

Facial morphology, the most conspicuous feature of human appearance, is highly heritable. Previous studies on the genetic basis of facial morphology were mainly performed in European populations. Applying a proven data-driven phenotyping and multivariate genome-wide scanning protocol to the largest collection of 3D facial images of an East Asian population to date, we identified 244 leading variants associated with normal-range facial variation, of which 130 are novel. A newly proposed polygenic shape analysis indicates that the effects of the variants on East Asian facial shape can be generalized into the European population. Based on this analysis, we further identified 13 variants mainly related to differences between European and East Asian facial shape. Natural selection analyses suggest that the difference in European and East Asian nose shape is caused by a directional selection, mainly due to a local adaptation in Europeans. Our results expand the knowledge of human facial genetics and illustrates for the first time the underlying genetic basis for facial differences across populations.

Are Nemiana Palij and Beltanelliformis Menner (Beltanelloides (Sokolov)) synonyms or different genera?

During recent decades, the issue of the nature of Ediacaran cyclic imprints, including the widely distributed in Podillia (southwestern Ukraine) Nemiana simplex Palij, 1976, and the less common Beltanelliformis brunsae Menner, 1974 (Beltanelloides sorichevae (Sokolov), 1965) has been actively debated. Several new and similar forms were discovered in other regions of the Globe. The disk-like outlines were considered to be sufficient characters to synonymize several earlier recognized genera and species. The main additional features used to distinguish cyclic genera included such features as the shape and sculpture of surfaces, facial differences, and geological age. Novel palaeobiochemical studies of these ancient remains opened a new phase of discussions on the possible identities of the organisms that formed these fossil structures. Sometimes the remains are covered with thin brown films providing biochemical evidence for the cyanobacterial nature of some structures, for example Beltanelliformis brunsae. However, these films are found only in clayey or carbonate environments (rocks). For Nemiana Palij, characteristic features are clustered communities and budding. In contrast, Beltanelliformis brunsae formed taphonomic communities of closely arranged disks almost identical in their shape and size. Nemiana simplex structures are confined to clastic rocks (mostly thin-grained sandstones or siltstone), which are not suitable for good preservation of imprints and organic remains of ancient animals, cyanobacteria, algae, and plants. Considering these and some additional considerations, synonimization of Nemiana та Beltanelliformis, as well as some other Ediacaran fossil structures differing in their morphology, is at best premature.

Evaluation of Facial Appearance–Related Quality of Life in Young Japanese Patients With Cleft Lip and/or Palate

Objective: (1) To confirm the reliability of a Japanese version of the Youth Quality of Life Instrument-Facial Differences Module (YQOL-FD); (2) to assess the quality of life (QoL) related to facial difference in Japanese youths with cleft lip and/or palate (CL/P) using this instrument; and (3) to examine the QoL differences according to age, sex, and cleft type. Design: A cross-sectional study. Setting: Japanese youths with CL/P were recruited through our hospital and asked to complete the YQOL-FD. Participants: Sixty-nine Japanese youths (age, 11-18 years) with CL/P. Outcome Measures: The domain scores of stigma, negative consequences, negative self-image, positive consequences, and coping in the YQOL-FD, and the reliability of such scores were evaluated. Results: The instrument showed an acceptable internal consistency (Cronbach α = 0.74-0.92) and test–retest reliability (intraclass correlation coefficient = 0.94-0.98), except for the coping domain. The individual’s domain scores were spread out from the lowest score to the high scores among all domains, thus indicating the negative and positive impacts of living with facial differences regarding their QoL may vary among individuals with CL/P. All domain scores in the 15- to 18-year-old group were significantly higher than those in 11- to 14-year-old group; there were no significant differences according to sex or cleft type. Conclusions: The instrument showed acceptable reliability, except for the coping domain. There were individual variations in QoL concerning the facial difference among Japanese youths with CL/P as measured by the YQOL-FD, suggesting the importance of individual evaluations. Perceptions were influenced by age, but not sex or cleft type.

Comparing the fit of N95, KN95, surgical, and cloth face masks and assessing the accuracy of fit checking

Introduction The COVID-19 pandemic has made well-fitting face masks a critical piece of protective equipment for healthcare workers and civilians. While the importance of wearing face masks has been acknowledged, there remains a lack of understanding about the role of good fit in rendering protective equipment useful. In addition, supply chain constraints have caused some organizations to abandon traditional quantitative or/and qualitative fit testing, and instead, have implemented subjective fit checking. Our study seeks to quantitatively evaluate the level of fit offered by various types of masks, and most importantly, assess the accuracy of implementing fit checks by comparing fit check results to quantitative fit testing results. Methods Seven participants first evaluated N95 and KN95 respirators by performing a fit check. Participants then underwent quantitative fit testing wearing five N95 respirators, a KN95 respirator, a surgical mask, and fabric masks. Results N95 respirators offered higher degrees of protection than the other categories of masks tested; however, it should be noted that most N95 respirators failed to fit the participants adequately. Fit check responses had poor correlation with quantitative fit factor scores. KN95, surgical, and fabric masks achieved low fit factor scores, with little protective difference recorded between respiratory protection options. In addition, small facial differences were observed to have a significant impact on quantitative fit. Conclusion Fit is critical to the level of protection offered by respirators. For an N95 respirator to provide the promised protection, it must fit the participant. Performing a fit check via NHS self-assessment guidelines was an unreliable way of determining fit.

Detecting the Risk of Online Harms on People With Social Orientation Impairments

This chapter proposes automated screening of internet and multimedia communications through a combination of neuroeconomics to measure neuro-response plasticity through forensic phonetics, EEG monitoring, and EigenFaces. These measure neuro-response plasticity through facial differences, including through the eyes, differences in EEG pattern, and prosody in the form of tone of voice. Through describing the ‘Distress in the Mind Test', a computer program is proposed that can be implemented on any device with a camera and microphone and can therefore also be used to diagnose social orientation impariments, such as autism and social phobia. Further development would prevent people with social orientation impairments or whom are otherwise at risk from online harms being exposed to them through automated content filtering.

A study to estimate the cranial capacity in 100 dry human skull bones

Background: Craniometry is the scientific measurement of the skull useful for anthropometry and forensic practice. Cranial index variations between and within population have been attributed to a complex interaction between genetic and environmental factors. The morphometric and non-morphometric studies of human skulls are very helpful for identification of the sex and age by anthropologist and forensic practice. Cranial dimensions and Cranial indices are considered as simplest and most efficient way to indicate facial differences. Materials and Methods: The present study will constitute 100 dried adult skulls belonging to both sexes available in the department of anatomy and forensic medicine RRMC and H, MS Ramaiah medical college and Sapthagiri medical college, Bangalore. Results: The mean cranial index of the skulls were 76.989 which classifies them under mesocephalic type and we find a significant correlation between the cranial index and the length height and breadth height index with the p value coming below 0.001. Conclusion: The mean, SD of all the parameters to calculate is mentioned in table 1. The mean cranial index is 76.989 with the standard deviation of 5.8775, that of length height index was 76.991 with SD of 4.4615 And that of breadth height index was 100.268 with SD of 5.4350. There is a significant correlation between the cranial index, the length height and breadth height indices. With a correlation value of 0.681 for length height index and -0.635 for breadth height index. Both had a p value <0.001.

Concepts Important to Patients With Facial Differences: A Qualitative Study Informing a New Module of the FACE-Q for Children and Young Adults

Objective: The concepts important to children and young adults who undergo treatments for facial differences are not well-defined. Measurement of treatment outcomes from the patient’s perspective is necessary to ensure goals of treatment are met. We aimed to identify concepts important to children and young adults with facial differences through a qualitative study. Design: An interpretive description qualitative approach was followed. Semistructured interviews were conducted, transcribed verbatim, and coded using a line-by-line approach. Qualitative analysis led to the development of a conceptual framework of outcomes important to patients. Setting: Interviews were conducted in Canada and the United Kingdom at home, by telephone, or in the hospital. Participants: Participants (N = 72) were recruited between May and June 2014 from craniofacial clinics at the Hospital for Sick Children (Toronto) and Great Ormond Street Hospital (London). Participants included anyone with a visible and/or functional facial difference aged 8 to 29 years and fluent in English, excluding patients with a cleft. The sample included 38 females and 34 males, with a mean age of 13.9 years, and included 28 facial conditions (11 facial paralysis, 18 ear anomalies, 26 skeletal conditions, and 17 soft tissue conditions). Results: Analysis led to identification of important concepts within 4 overarching domains: facial appearance, facial function, adverse effects of treatment, and health-related quality of life (psychological, social, and school function). Conclusions: Our study provides an understanding of concepts important to children and young adults with facial differences.

Sustainable Cleft Care: A Comprehensive Model Based on the Global Smile Foundation Experience

Introduction: Clefts of the lip and palate are leading congenital facial anomalies. Underserved patients with these facial differences lack access to medical care, surgical expertise, prenatal care, or psychological support. Moreover, the disease results in significant economic strains on patients and their families. While surgical outreach programs have attempted to fill this void, significant challenges facing international comprehensive cleft care persist. Objective: Propose a path toward international sustainable cleft care based on the Global Smile Foundation experience. Results: International sustainable comprehensive cleft care can be achieved by regulating surgical outreach programs. Regulation of these missions would ensure standardized care and encourage stakeholders to cooperate and adequately allocate funding and resources. Capacity building can be achieved through “diagonal” cleft care delivery models, multidisciplinary workshops, fellowship programs, research and quality assurance, as well as leveraging emerging technologies such as Augmented Reality. Conclusion: International comprehensive cleft care requires continuous collaborative efforts between visiting and local teams as well as international and national organizations. Standardizing and regulating current practices as well as promoting capacity building initiatives can contribute to sustainable cleft care.

Portuguese translation and validation of the YQOL – FD (Youth Quality of Life Instrument—Facial Differences) for brazilian adolescents with craniofacial deformities

The Youth Quality of Life—Facial Differences (YQOL-FD), validated in the United States in 2005, was developed at the University of Washington by the Seattle Quality of Life Group (SeaQol), to evaluate quality of life of adolescents with facial deformities. Because no Portuguese version exists, the measure was not viable in Brazil. This study aimed to obtain linguistic and psychometric validation of a version of the YQOL-FD in Portuguese. Twenty-five patients with cleft lip and palate and five without facial deformity participated in Traumatology and Maxillofacial Prosthesis Surgery Clinic, School of Dentistry, University of São Paulo. The linguistic validation of the YQOL-FD was carried out by a team consisting of the researcher, as project manager, two native Portuguese-speaking consultants fluent in English, and one native English-speaking consultant fluent in Portuguese. After translation and back-translation, a Portuguese version was obtained, which was applied in a pilot test (n = 10); after the final adjustments the Seattle Quality of Life Group approved the official version of the YQOL-FD in Portuguese. To obtain the psychometric validation, we requested the participation of 20 patients with cleft lip and palate who answered the questionnaire twice in a range of 7 to 15 days. The Cronbach’s alpha test was applied in the 48-item block, showing a high degree of internal consistency (0.949). The Wilcoxon Signal Post Test was applied to verify if the test and retest values were similar; the general agreement was 4/5 = 80%, indicating high reproducibility. It was concluded that the Portuguese version of the YQOL-FD is adequate for evaluating Quality of Life of Brazilian adolescents with craniofacial deformities.