Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile.

The vertical facial profile is a crucial factor for facial harmony with significant implications for both aesthetic satisfaction and orthodontic treatment planning. However, the role of single nucleotide polymorphisms (SNPs) in the development of vertical facial proportions is still poorly understood. This study aimed to investigate the potential impact of some SNPs in genes associated with craniofacial bone development on the establishment of different vertical facial profiles. Vertical facial profiles were assessed by two senior orthodontists through pre-treatment digital lateral cephalograms. The vertical facial profile type was determined by recommended measurement according to the American Board of Orthodontics. Healthy orthodontic patients were divided into the following groups: "Normodivergent" (control group), "Hyperdivergent" and "Hypodivergent". Patients with a history of orthodontic or facial surgical intervention were excluded. Genomic DNA extracted from saliva samples was used for the genotyping of 7 SNPs in RUNX2, BMP2, BMP4 and SMAD6 genes using real-time polymerase chain reactions (PCR). The genotype distribution between groups was evaluated by uni- and multivariate analysis adjusted by age (alpha = 5%). A total of 272 patients were included, 158 (58.1%) were "Normodivergent", 68 (25.0%) were "Hyperdivergent", and 46 (16.9%) were "Hypodivergent". The SNPs rs1200425 (RUNX2) and rs1005464 (BMP2) were associated with a hyperdivergent vertical profile in uni- and multivariate analysis (p-value < 0.05). Synergistic effect was observed when evaluating both SNPs rs1200425- rs1005464 simultaneously (Prevalence Ratio = 4.0; 95% Confidence Interval = 1.2-13.4; p-value = 0.022). In conclusion, this study supports a link between genetic factors and the establishment of vertical facial profiles. SNPs in RUNX2 and BMP2 genes were identified as potential contributors to hyperdivergent facial profiles.

KMT2D regulates activation, localization, and integrin expression by T-cells.

Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up on our prior report of KMT2D-altered integrin expression in B-cells, we performed targeted analyses of KMT2D's influence on integrin expression in T-cells throughout development (thymocytes through peripheral T-cells) in murine cells with constitutive- and conditional-targeted Kmt2d deletion. Using high-throughput RNA-sequencing and flow cytometry, we reveal decreased expression (both at the transcriptional and translational levels) of a cluster of leukocyte-specific integrins, which perturb aspects of T-cell activation, maturation, adhesion/localization, and effector function. H3K4me3 ChIP-PCR suggests that these evolutionary similar integrins are under direct control of KMT2D. KMT2D loss also alters multiple downstream programming/signaling pathways, including integrin-based localization, which can influence T-cell populations. We further demonstrated that KMT2D deficiency is associated with the accumulation of murine CD8+ single-positive (SP) thymocytes and shifts in both human and murine peripheral T-cell populations, including the reduction of the CD4+ recent thymic emigrant (RTE) population. Together, these data show that the targeted loss of Kmt2d in the T-cell lineage recapitulates several distinct features of Kabuki syndrome-associated immune deficiency and implicates epigenetic mechanisms in the regulation of integrin signaling.

A Practical Algorithm for Integrating Skincare to Improve Patient Outcomes and Satisfaction With Energy-Based Dermatologic Procedures.

BACKGROUND: Medical aesthetic procedures for facial antiaging with laser and energy-based devices (EBDs) are rapidly increasing, but standards integrating skincare before, during, and after these treatments are lacking. The algorithm for integrated skin care for facial antiaging treatment with EBDs aims to stimulate healing, reduce downtime, and improve comfort and treatment outcomes. METHODS: A panel of 8 global physicians employed a modified Delphi method and reached a consensus on the algorithm integrating skincare based on the best available evidence, the panel's clinical experience, and opinions. RESULTS: The algorithm has a pretreatment (starts 2 - 4 weeks before the procedure) and treatment (day of treatment) section, followed by care after the procedure (0 - 7 days) and follow-up care (1 - 4 weeks after the procedure or ongoing). Applying a broad-spectrum sunscreen with an SPF 50 or higher, combined with protective measures such as wearing a wide-brimmed hat and sunglasses, is recommended to protect the face from sun exposure. Dyschromia is a significant concern for those with skin of color (SOC). Clinicians may recommend skincare using a gentle cleanser and moisturizer containing vitamins C and E, retinoid, or other ingredients such as niacinamide, kojic acid, licorice root extract, azelaic acid, and tranexamic acid, depending on the patient's facial skin condition. CONCLUSION: Medical aesthetic procedures for facial antiaging with EBDs integrating skincare or topical treatments may improve outcomes and patient satisfaction. Topical antioxidants and free radical quenchers can combat photodamage and may offer a safe alternative to topical hydroquinone.  J Drugs Dermatol. 2024;23(5):353-359.     doi:10.36849/JDD.8092.

Reliability and validity of handheld structured light scanners and a static stereophotogrammetry system in facial three-dimensional surface imaging.

Several new systems for three-dimensional (3D) surface imaging of the face have become available to assess changes following orthognathic or facial surgery. Before they can be implemented in practice, their reliability and validity must be established. Our aim, therefore, was to study the intra- and inter-system reliability and validity of 3dMD (stereophotogrammetry), Artec Eva and Artec Space Spider (both structured light scanners). Intra- and inter-system reliability, expressed in root mean square distance, was determined by scanning a mannequin's head and the faces of healthy volunteers multiple times. Validity was determined by comparing the linear measurements of the scans with the known distances of a 3D printed model. Post-processing errors were also calculated. Intra-system reliability after scanning the mannequin's head was best with the Artec Space Spider (0.04 mm Spider; 0.07 mm 3dMD; 0.08 mm Eva). The least difference in inter-system reliability after scanning the mannequin's head was between the Artec Space Spider and Artec Eva. The best intra-system reliability after scanning human subjects was with the Artec Space Spider (0.15 mm Spider; 0.20 mm Eva; 0.23 mm 3dMD). The least difference in inter-system reliability after scanning human subjects was between the Artec Eva and Artec Space Spider. The most accurate linear measurement validity occurred with the Artec Space Spider. The post-processing error was 0.01 mm for all the systems. The Artec Space Spider is the most reliable and valid scanning system.

Reconstruction of Large Composite Defects Extending Beyond the Nose.

Nasal reconstruction remains one of the most challenging surgeries for facial plastic and reconstructive surgeons. The addition of defects extending beyond the nose adds a layer of complexity to an already technically demanding surgery. This article will focus on the management of composite defects extending beyond the boundaries of the nose. Surgeons need to have a variety of techniques at their disposal. These complex defects often require multiple local flaps, multiple stages, and, in select cases, free tissue transfer.

Use of a fractional 1570-nm diode laser scanner for non-ablative face and neck rejuvenation.

BACKGROUND: The use of non-ablative fractionated lasers for skin rejuvenation has been proven to be effective in improving skin texture, and has become popular due to minimal wounding, significantly shorter recovery times and decreased adverse effects. OBJECTIVE: To retrospectively analyze improvement in skin texture in healthy women aged over 18 years with Fitzpatrick skin types II-IV. METHODS: Participants received three facial and/or neck treatments with the 1570-nm fractional scanning diode laser at 1-month intervals. Three months after the last treatment session two blinded evaluators assessed skin improvement using before and after photos. Pain and patient satisfaction were recorded. RESULTS: Sixteen women with a mean age of 45.4 ± 4.1 years (range 35-50 years) and skin type II-IV were included in the analysis. All 16 participants received facial treatments and seven (43.8%) also received neck treatments. Three months follow-up evaluation showed that the majority of participants had a visible change in the treated areas. Mean pain score was low and decreased with each treatment session. CONCLUSION: Skin treatment using fractional scanning 1570-nm diode laser improves skin laxity in women with skin types II-IV. Larger studies are warranted to further clarify the efficacy and safety of this modality.

[The timing and challenges of early intervention for infantile esotropia].

Infantile esotropia is a common ophthalmic disease in children. A lot of clinical and basic research evidence suggests that early surgery enhances sensory and ocular motor development. However, the proper timing of surgery has been debated for decades. In addition, there is more likely instability of deviation in the preoperative evaluation of infants, and even if the patient achieved alignment after surgery, the defects in binocular vision may accompany for a lifetime. This article analyzes the difficulties and key points of early intervention for infantile esotropia, aiming to provide scientific ideas for the early treatment of children with infantile esotropia in China.

Dynamic brain communication underwriting face pareidolia.

Face pareidolia is a tendency to seeing faces in nonface images that reflects high tuning to a face scheme. Yet, studies of the brain networks underwriting face pareidolia are scarce. Here, we examined the time course and dynamic topography of gamma oscillatory neuromagnetic activity while administering a task with nonface images resembling a face. Images were presented either with canonical orientation or with display inversion that heavily impedes face pareidolia. At early processing stages, the peaks in gamma activity (40 to 45 Hz) to images either triggering or not face pareidolia originate mainly from the right medioventral and lateral occipital cortices, rostral and caudal cuneus gyri, and medial superior occipital gyrus. Yet, the difference occurred at later processing stages in the high-frequency range of 80 to 85 Hz over a set of the areas constituting the social brain. The findings speak rather for a relatively late neural network playing a key role in face pareidolia. Strikingly, a cutting-edge analysis of brain connectivity unfolding over time reveals mutual feedforward and feedback intra- and interhemispheric communication not only within the social brain but also within the extended large-scale network of down- and upstream regions. In particular, the superior temporal sulcus and insula strongly engage in communication with other brain regions either as signal transmitters or recipients throughout the whole processing of face-pareidolia images.

Comparison of two approaches to measuring clean faces as part of the facial cleanliness component of the SAFE trachoma elimination strategy.

BACKGROUND: The Alliance for the Global Elimination of Trachoma (GET) endorses the full SAFE strategy to eliminate trachoma; Surgery (for trichiasis), Antibiotics (to reduce the community pool of infection, Facial cleanliness, and Environmental improvement (to decrease transmission). There is no accepted measure of facial cleanliness. This study compared two possible metrics for facial cleanliness. METHOD/FINDINGS: Metric one: Clean face was defined as observed absence of ocular and nasal discharge on the face. Metric two: observing a grade of dirtiness (scale 10 = lightest to 0 = darkest) on a standard facial wipe. The reliability of grading a child's face or grading a facial wipe was determined in children in Kongwa Tanzania. We also observed both measurements in a cohort of 202 children ages 1 to <7years prior to face cleaning, immediately afterwards, and 4 hours afterwards. Fifty of the children did not have face cleaning and were controls. Intra-and interobserver reliability was similar for both measures, the latter = 0.53 for observing a clean face and 0.52 for grading a facial wipe. There was no correlation between the two. Both measures detected facial cleaning, compared to control children who were not cleaned, immediately after cleaning; control children with 53% clean faces and wipe score of 6.7 compared to cleaned children with 88% clean faces and wipe score of 8 (p = .0001, p = < .0001, respectively). Both measures also detected face washing 4 hours previously compared to controls. CONCLUSIONS: The two metrics were equally reliable, and both measured the behavior of face washing. They measure different aspects of a clean face; one measures the amount of dirt on wiped area and the other measures ocular and nasal discharge. Both measurements appear to capture the behavior of facial cleaning, and the choice of metric would appear to rest on the measurement that captures the stated objective of the behavior, consideration of costs, training, logistics, and implementation.

A novel approach to the detection of facial wrinkles: Database, detection algorithm, and evaluation metrics.

Skin wrinkles result from intrinsic aging processes and extrinsic influences, including prolonged exposure to ultraviolet radiation and tobacco smoking. Hence, the identification of wrinkles holds significant importance in skin aging and medical aesthetic investigation. Nevertheless, current methods lack the comprehensiveness to identify facial wrinkles, particularly those that may appear insignificant. Furthermore, the current assessment techniques neglect to consider the blurred boundary of wrinkles and cannot differentiate images with varying resolutions. This research introduces a novel wrinkle detection algorithm and a distance-based loss function to identify full-face wrinkles. Furthermore, we develop a wrinkle detection evaluation metric that assesses outcomes based on curve, location, and gradient similarity. We collected and annotated a dataset for wrinkle detection consisting of 1021 images of Chinese faces. The dataset will be made publicly available to further promote wrinkle detection research. The research demonstrates a substantial enhancement in detecting subtle wrinkles through implementing the proposed method. Furthermore, the suggested evaluation procedure effectively considers the indistinct boundaries of wrinkles and is applicable to images with various resolutions.

[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].

OBJECTIVE: To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. METHODS: Four children with KS diagnosed at the Children's Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified by Sanger sequencing and pathogenicity analysis. RESULTS: The KS phenotype scores for the four children were 7, 8, 6, and 6, respectively. Child 2 also presented with a rare solitary kidney malformation. Genetic testing revealed that all children had harbored novel de novo variants of the KMT2D gene, including c.16472_16473del, c.858dup, c.11899C>T, and c.12844C>T, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were classified as pathogenic. CONCLUSION: For children showing phenotypes such as distinctive facial features, intellectual disability, developmental delay, cardiac abnormalities, and urinary system anomalies, KS should be considered. Early diagnosis and intervention can be achieved through genetic testing, especially in the presence of KMT2D gene mutations.

Assessing the Reliability of Facial Feminization Content on Social Media and Its Impact on the Dissemination of Misinformation.

BACKGROUND: The surge in social media usage has transformed the dissemination and consumption of healthcare information, notably impacting plastic surgery and cosmetic specialties. This study focuses on the influence of social media, particularly Instagram and TikTok, in shaping perceptions of individuals seeking facial feminization (FF) procedures. METHODS: Using the validated DISCERN scale, we assessed the reliability and accuracy of FF content on TikTok and Instagram. The study also analyzed the relationship between content reliability on engagement metrics (likes, comments, views) and the type of content shared (educational, testimonial, promotional). RESULTS: The analysis encompassed 225 TikTok videos and 75 Instagram posts. TikTok content showed 9.33% as "very poor," 66.2% as "poor," 22.6% as "fair," and only 1.33% as "excellent." Similarly, Instagram content demonstrated 14.67% as "very poor" and 69.33% as "poor," with no content rated as "good" or "excellent." Educational content received higher reliability scores on both platforms. TikTok engagement metrics showed lower reliability ratings correlating with more views, comments, and likes. CONCLUSION: The study underscores the critical role of social media in shaping patient perspectives on FF procedures. The prevalence of inaccurate information necessitates a focus on responsible engagement by healthcare professionals, aiming to provide accurate, educational content that aligns with patients' informational needs and ultimately enhances surgical outcomes.

[Advancements and current research in orofacial tissue regeneration].

The orofacial system, an intricate assembly of diverse tissues that underpin the unique biologic and morphological identity of an individual, presents a formidable challenge in the realm of tissue regeneration within oral and maxillofacial surgery. This review conducts a retrospective appraisal of advancements in the field of orofacial tissue regeneration, elucidating the current research landscape while critically addressing the persisting challenges. It underscores the pivotal roles of orofacial mesenchymal stem cells in orchestrating regenerative processes, offering an insightful outlook on future developments. The objective is to demarcate innovative therapeutic avenues and clinical implications by fostering a comprehensive understanding of this domain among dental practitioners. As such, it aspires to serve as a valuable reference for prospective investigations and to elevate the knowledge base pertaining to orofacial tissue regeneration.

The "Central Tendency Bias" in the assessment of facial attractiveness in group-based and individual ratings-A survey-based study in 727 volunteers.

BACKGROUND: The increasing number of esthetic procedures emphasizes the need for effective evaluation methods of outcomes. Current practices include the individual practitioners' judgment in conjunction with standardized scales, often relying on the comparison of before and after photographs. This study investigates whether comparative evaluations influence the perception of beauty and aims to enhance the accuracy of esthetic assessments in clinical and research settings. OBJECTIVE: To compare the evaluation of attractiveness and gender characteristics of faces in group-based versus individual ratings. METHODS: A sample of 727 volunteers (average age of 29.5 years) assessed 40 facial photographs (20 male, 20 female) for attractiveness, masculinity, and femininity using a 5-point Likert scale. Each face was digitally edited to display varying ratios in four lip-related proportions: vertical lip position, lip width, upper lip esthetics, and lower lip esthetics. Participants rated these images both in an image series (group-based) and individually. RESULTS: Differences in the perception of the most attractive/masculine/feminine ratios for each lip proportion were found in both the group-based and individual ratings. Group ratings exhibited a significant central tendency bias, with a preference for more average outcomes compared with individual ratings, with an average difference of 0.50 versus 1.00. (p = 0.033) CONCLUSION: A central tendency bias was noted in evaluations of attractiveness, masculinity, and femininity in group-based image presentation, indicating a bias toward more "average" features. Conversely, individual assessments displayed a preference for more pronounced, "non-average" appearances, thereby possibly pointing toward a malleable "intrinsic esthetic blueprint" shaped by comparative context.

El reposicionamiento malar. Presentación de una técnica original: punto MM / Malar repositioning. Presentation of an original technique: point MM

El envejecimiento facial es una sinergia compleja de cambios texturales de la piel, hiper- o hipoactividad muscular, reabsorción del tejido graso y resorción ósea. El déficit de volumen resultante, la deflación y la posterior caída del tercio medio facial produce una cara menos atractiva y juvenil. Los procedimientos inyectables en región malar son cada vez más populares y solicitados por los pacientes. El conocimiento de la anatomía de la cara media es fundamental para el inyector. La comprensión de la irrigación facial puede ayudar a disminuir la exposición a la aparición de hematomas y complicaciones vasculares severas. Existen múltiples técnicas de inyección propuestas para el tercio medio, en este artículo presentamos una técnica original, simple, segura y eficaz con resultados satisfactorios y riesgo reducido

Facial aging is a complex synergy of textural skin changes, muscle hyperactivity, fat dysmorphism, bone resorption. The resulting volume deficit and deflation of the mid face produces a less attractive and youthful face. Injectable midface procedures are becoming increasingly popular and requested by patients. Knowledge of the anatomy of the midface is critical for the injector. Understanding the irrigation of the face can help decrease the risk of hematoma and severe vascular complications. There are multiple injection techniques proposed for the middle third, in this article we present a simple, safe and effective technique with satisfactory results and lower risk

Magnitude and Determinants of Awareness Regarding Refractive Surgeries Among Saudi Adults.

Objectives: This study aimed to present the magnitude and determinants of awareness about refractive surgery among the adult Saudi population and recommend knowledge improvement. Methods: This web-based cross-sectional study was conducted between June 2020 and May 2021 across various regions of Saudi Arabia on the adult Saudi population. A total of 11 close-ended questions regarding indication, contraindication, preparation and surgery procedures were asked. The awareness scores were grouped as 'good' (≥6) or 'poor' (≤5). Demographic and ocular parameters were associated with the outcomes. Results: Of the 6,746 participants, 6,580 (response rate = 97.5%) completed the survey. The participation of younger women and older men was greater than their proportions in the population, while older women participated less than their proportion. Good awareness about refractive surgery was noted in 1,165 (17.7%; 95% confidence interval: 16.2-18.0) participants. Women (P <0.001), the 18-29 age group (P <0.001), residents of the central region of Saudi Arabia (P <0.001), health professionals (P <0.001), health sector students (P = 0.0004), people with myopia (P <0.001) and history of refractive surgery (P <0.001) were associated with good awareness. Women (adjusted odds ratio [AOR] = 1.5; P <0.001), health sector students (AOR = 1.57; P <0.001), and residents in the central region (AOR = 1.27; P <0.001) were independent predictors of awareness. Knowledge about contraindications for surgery was good in more than one-third of the participants. Of the 535 participants who underwent surgery in the past, 452 (84.5%) were satisfied with their outcomes. Conclusion: Awareness of refractive surgeries is low in the adult Saudi population. Targeted counseling is recommended to improve the knowledge and acceptance of refractive surgery.

3D-IncNet: Head and Neck (H&N) Primary Tumors Segmentation and Survival Prediction.

Cancer begins when healthy cells change and grow out of control, forming a mass called a tumor. Head and neck (H&N) cancers usually develop in or around the head and neck, including the mouth (oral cavity), nose and sinuses, throat (pharynx), and voice box (larynx). 4% of all cancers are H&N cancers with a very low survival rate (a five-year survival rate of 64.7%). FDG-PET/CT imaging is often used for early diagnosis and staging of H&N tumors, thus improving these patients' survival rates. This work presents a novel 3D-Inception-Residual aided with 3D depth-wise convolution and squeeze and excitation block. We introduce a 3D depth-wise convolution-inception encoder consisting of an additional 3D squeeze and excitation block and a 3D depth-wise convolution-based residual learning decoder (3D-IncNet), which not only helps to recalibrate the channel-wise features but adaptively through explicit inter-dependencies modeling but also integrate the coarse and fine features resulting in accurate tumor segmentation. We further demonstrate the effectiveness of inception-residual encoder-decoder architecture in achieving better dice scores and the impact of depth-wise convolution in lowering the computational cost. We applied random forest for survival prediction on deep, clinical, and radiomics features. Experiments are conducted on the benchmark HECKTOR21 challenge, which showed significantly better performance by surpassing the state-of-the-artwork and achieved 0.836 and 0.811 concordance index and dice scores, respectively. We made the model and code publicly available.

Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.

Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (PAX6), which codes for a transcription factor that regulates eye development. Four patients from our hospital who presented with ocular phenotypes were recruited for research sequencing with informed consent. Sanger sequencing of PAX6 coding exons or exome sequencing was performed on genomic DNA from venous blood samples. Variants in PAX6 were identified in the four patients. Two variants are recurrent single-nucleotide substitutions - one is a substitution found in a patient with bilateral aniridia, whereas the other is a splice variant in a patient with nystagmus and neuroblastoma. The other two variants are novel and found in two patients with isolated aniridia. Both are small duplications that are predicted to lead to premature termination. For the recurrent variants, the comparison of phenotypes for patients with identical variants would shed light on the mechanisms of pathogenesis, and the discovery of two novel variants expands the spectrum of PAX6 mutations.