Treatment of Human Immunodeficiency Virus-Associated Facial Lipoatrophy With Hyaluronic Acid Filler Mixed With Micronized Cross-Linked Acellular Dermal Matrix.

BACKGROUND: Human immunodeficiency virus (HIV)-associated facial lipoatrophy (FLA) is a stigmatizing side effect associated with the use of highly active antiretroviral therapy. We sought to evaluate the safety and efficacy of the hyaluronic acid filler mixed with micronized cross-linked acellular dermal matrix (HA/MADM) in HIV-associated FLA. METHODS: We conducted an open-label safety and efficacy study in patients with HIV-associated FLA. Fourteen patients received single injection of the HA/MADM, and 13 patients completed the 24-week follow-up evaluation. Treatment efficacy, safety, and patient and physician satisfaction were evaluated. Repeated measure analysis of variance with post-hoc analysis with the Wilcoxon signed rank test was performed to compare and incorporate parameters at each time point. RESULTS: All 13 patients maintained a significant improvement of the Carruthers Lipoatrophy Severity Scale grade throughout the study period, along with improvement of the depressed volume due to lipoatrophy measured using a three-dimensional camera system. More than 80% of patients and physicians were satisfied with the treatment, and no treatment-related adverse events were reported, except for one case of transient subcutaneous nodule formation. CONCLUSION: Our study findings suggest that injectable HA/MADM is a potentially effective and safe treatment option for treating HIV-positive patients with FLA.

Painful facial abscess.

Any case of a chronic nonhealing lesion of the face should include this condition in the differential.

Quantitative assessment of Bell's palsy-related facial thermal asymmetry using infrared thermography: A preliminary study.

The temperature distribution of normal human skin is symmetrical. Facial paralysis generally changes this thermal symmetry. The aim of this study is to analyze facial thermal asymmetry during the early onset of Bell's palsy, and to assess the feasibility of the diagnosis of early-onset Bell's palsy using infrared thermography (IRT). Fifteen subjects with Bell's palsy and 15 healthy volunteers were considered in this study. The infrared thermal images of the front, left, and right sides of all the subjects were collected and analyzed. Each group of facial thermograms was divided into 16 symmetrical regions of interest (ROIs) with respect to the left and right sides. Three different temperature difference calculation methods were used to express the degree of thermal symmetry between the left- and right-side ROIs, namely, the mean temperature difference (ΔTroi), maximum temperature difference (ΔTmax), and minimum temperature difference (ΔTmin). Among the facial ROIs, there were significant differences in the thermal symmetries of the frontal region, medial canthus region, and infraorbital region between subjects with and without Bell's palsy (p < 0.05). Based on the results, ΔTroi was more effective than the other two methods for the diagnosis of early-onset Bell's palsy. The area under the ROC curve (AUC) of ΔTroi in the infraorbital region was 0.818; and the sensitivity and specificity were 0.867 and 0.800, respectively. Subjects with early-onset Bell's palsy exhibited thermal asymmetry on the left and right sides of their faces. The diagnosis of early-onset Bell's palsy using IRT is therefore necessary. Nevertheless, more effective thermal symmetry analysis methods will be investigated further in future research.

Impact of extent of internal acoustic meatus tumor removal using translabyrinthine approach for acoustic neuroma surgery.

OBJECTIVES: Many studies have investigated the surgical outcome and predictive factors of acoustic neuroma using different approaches. The present study focused on large tumors due to the greater likelihood of internal acoustic meatus involvement and the greater application of surgical intervention than radiosurgery. There have been no previous reports on outcomes of internal acoustic meatus tumor removal. We investigated the impact of the extent of internal acoustic meatus tumor removal using a translabyrinthine approach for large acoustic neuroma surgery and predictive factors of tumor control. METHODS: This retrospective study reviewed 104 patients with large cerebellopontine angle tumor >3 cm treated by translabyrinthine approach microsurgery. Predictive factors of postoperative facial palsy, tumor control, and extent of internal acoustic meatus tumor removal were assessed. RESULTS: The mean tumor size was 38.95 ± 6.83 mm. Postoperative facial function showed 76.9% acceptable function (House-Brackmann grade 1 or 2) six months after surgery. The extent of internal acoustic meatus tumor removal was a statistically significant predictor factor of poor postoperative facial function. Younger age, larger tumor size needing radiosurgery, and more extensive removal of tumor were associated with better tumor control. CONCLUSION: More extensive internal acoustic meatus tumor removal was associated with poor postoperative facial function and better tumor control.

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.

Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of cases are caused by pathogenic variants in NSD1. The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism with a pointed chin, and a long and narrow face. We present a follow-up to a cohort of 11 individuals found to harbor heterozygous, pathogenic, or likely pathogenic variants in NSD1. We analyzed the facial dysmorphisms and the condition using retrospective over 20 years. Among these patients, followed in our medical genetics outpatient clinic for variable periods of time, all had a phenotype compatible with the characteristic Sotos syndrome facial features, which evolved with time and became superimposed with natural aging modifications. We present here a long-term follow-up of facial features of Brazilian patients with molecularly confirmed Sotos syndrome. In this largest Brazilian cohort of molecularly confirmed patients with Sotos syndrome to date, we provide a careful description of the facial phenotype, which becomes less pronounced with aging and possibly more difficult to recognize in adults. These results may have broad clinical implications for diagnosis and add to the global clinical delineation of this condition.

Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene application.

Down syndrome (DS) is typically recognizable in those who present with multiple dysmorphism, especially in regard to facial phenotypes. However, as the presentation of DS in neonates is less obvious, a phenotype-based presumptive diagnosis is more challenging. Recently, an artificial intelligence (AI) application, Face2Gene, was developed to help physicians recognize specific genetic syndromes by using two-dimensional facial photos. As of yet, there has not been any study comparing accuracy among physicians or applications. Our objective was to compare the facial recognition accuracy of DS in Thai neonates, using facial photographs, among physicians and the Face2Gene. Sixty-four Thai neonates at Thammasat University Hospital, with genetic testing and signed parental consent, were divided into a DS group (25) and non-DS group (39). Non-DS was further divided into unaffected (19) and those affected with other syndromes (20). Our results revealed physician accuracy (89%) was higher than the Face2Gene (81%); however, the application was higher in sensitivity (100%) than physicians (86%). While this application can serve as a helpful assistant in facilitating any genetic syndrome such as DS, to aid clinicians in recognizing DS facial features in neonates, it is not a replacement for well-trained doctors.

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

The PHF6 mutation c.1024C > T; p.R342X, is a recurrent cause of Börjeson-Forssman-Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate-severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, long tapering fingers and large ears (MIM#301900). Here, we generated transgenic mice with the identical substitution (R342X mice) using CRISPR technology. We show that the p.R342X mutation causes a reduction in PHF6 protein levels, in both human and mice, from nonsense-mediated decay and nonsense-associated alternative splicing, respectively. Magnetic resonance imaging studies indicated that R342X mice had a reduced brain volume on a mixed genetic background but developed hydrocephaly and a high incidence of postnatal death on a C57BL/6 background. Cortical development proceeded normally, while hippocampus and hypothalamus relative brain volumes were altered. A hypoplastic anterior pituitary was also observed that likely contributes to the small size of the R342X mice. Behavior testing demonstrated deficits in associative learning, spatial memory and an anxiolytic phenotype. Taken together, the R342X mice represent a good preclinical model of BFLS that will allow further dissection of PHF6 function and disease pathogenesis.

Garlic-induced face burn.

There is inadequate research and study into the use of garlic and other herbal medicine in clinical practice; accordingly, the general population should be cautious when using such complementary and herbal treatments. We report a case which highlights the potential complications following the application of garlic-related naturopathic remedies mostly on skin burns.

Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.

Coffin-Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and nails, and intellectual disability. It is a genetically heterogeneous condition caused by pathogenic variants in genes encoding proteins of the BAF (BRG1-associated factors) chromatin modeling complex and its downstream transcriptional factor. To date over 220 CSS individuals with pathogenic variants found have been described in the literature. This case series reported 18 molecularly confirmed Chinese individuals (17 with ARIDIB (OMIM*614556) variants and one with SMARCB1 (OMIM*601607) variant) from 17 unrelated families in Hong Kong. The clinical features of these 18 Chinese CSS patients together with two previously reported Chinese patients with ARID1B variants were reviewed. Among the 19 Chinese patients with ARID1B variants, our data suggested a lower prevalence of feeding problem, autistic features, agenesis of corpus callosum (ACC) or partial/hypoplasia of corpus callosum, and sparse hair when compared with previous reports. There was appearing higher prevalence of digital hypoplasia. Digital hypoplasia was observed to become less noticeable with time in some patients. This report highlighted the age-dependent phenotypic presentation of CSS and ethnicity-related effect on ARID1B-CSS phenotype. Moreover, this series included the first family with molecularly confirmed maternal somatic mosaicism of ARID1B variant leading to familial CSS recurrence.

The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.

Computer-assisted pattern recognition platforms, such as Face2Gene® (F2G), can facilitate the diagnosis of children with rare genetic syndromes by comparing a patient's features to known genetic diagnoses. Our work designed, implemented, and evaluated an innovative model of care in clinical genetics in a heterogeneous and multicultural patient population that utilized this facial phenotyping software at the point-of-care. We assessed the performance of F2G by comparing the suggested diagnoses to the patient's confirmed molecular diagnosis. Providers' overall experiences with the technology and trainees' educational experiences were assessed with questionnaires. We achieved an overall diagnostic yield of 57%. This increased to 82% when cases diagnosed with syndromes not recognized by F2G were removed. The mean rank of a confirmed diagnosis in the top 10 was 2.3 (CI 1.5-3.2) and the mean gestalt score 37.6%. The most commonly suggested diagnoses were Noonan syndrome, mucopolysaccharidosis, and 22q11.2 deletion syndrome. Our qualitative assessment revealed that clinicians and trainees saw value using the tool in practice. Overall, this work helped to implement an innovative patient care delivery model in clinical genetics that utilizes a facial phenotyping tool at the point-of-care. Our data suggest that F2G has utility in the genetics clinic as a clinical decision support tool in diverse populations, with a majority of patients having their eventual diagnosis listed in the top 10 suggested syndromes based on a photograph alone. It shows promise for further integration into clinical care and medical education, and we advocate for its continued use, adoption and refinement along with transparent and accountable industrial partnerships.

Evaluation of the efficiency and safety of botulinum toxin A injection on improving facial scars: A protocol for systematic review and meta-analysis.

BACKGROUND: Botulinum toxin A injection is an established method of treatment. Clinical practitioners use it widely in their practice to prevent the occurrence of facial scars. However, the effectiveness and safeness of has not been comprehensively established. The objective of the current systematic review is to evaluate the efficacy and safety of using botulinum toxin A injection to improve facial scars. METHODS AND ANALYSIS: This systematic review involves browsing a number of electronic databases to search for related articles. The search will include databases in both English (PubMed, EMBASE, Web of Science, Spocus, and Cochrane Central Register of Controlled Trials) and Chinese (WanFang database, China Nation Knowledge Infrastructure, and VIP database), the periods of searching will be from inception till the 15th of September 2020. Completing the search in databases allows to consider randomized controlled studies that compares botulinum toxin A interventions to any comparison interventions in those who have facial scars. The review will be inclusive of papers in both languages, English and Chinese. The independent screening of studies for eligibility is conducted by 2 independent authors. Discussion was used to resolve discrepancies between the authors. The Cochrane Risk of Bias Tool V.2.0 is adopted for evaluating the methodological quality of each study. Data extraction was performed by 2 independent authors. For dichotomous outcomes, the were expressed as relative risk (RR) with 95% confidence intervals (CI). For continuous outcomes the results were expressed as the mean difference (MD) or standardized mean difference (SMD) with 95% CI. The statistical analysis of the present study is carried out in RevMan 5.3 software. RESULTS: This study will output a comprehensive synthesis of existing evidence in relation to botulinum toxin A. Moreover, the results will also provide an interpretation of the effectiveness and safety of botulinum toxin A. CONCLUSION: The present review contributes to the existing body of knowledge by adding more evidence to evaluate if botulinum toxin A is effective and safe to be used as an intervention for improving facial scars. OSF REGISTRATION NUMBER: DOI 10.17605/OSF.IO/94TXP (https://osf.io/94TXP/).

Strangers look sicker (with implications in times of COVID-19).

We animals have evolved a variety of mechanisms to avoid conspecifics who might be infected. It is currently unclear whether and why this "behavioral immune system" targets unfamiliar individuals more than familiar ones. Here I answer this question in humans, using publicly available data of a recent study on 1969 participants from India and 1615 from the USA. The apparent health of a male stranger, as estimated from his face, and the comfort with contact with him were a direct function of his similarity to the men in the local community. This held true regardless of whether the face carried overt signs of infection. I conclude that our behavioral immune system is finely tuned to degrees of outgroupness - and that cues of outgroupness are partly processed as cues of infectiousness. These findings, which were consistent across the two cultures, support the notion that the pathogens of strangers are perceived as more dangerous.

Establishing a Standardized Facial Cosmetic Preinjection Safety Tool: The ACIST.

In the past 20 years, the American population has seen an increased demand for nonsurgical minimally invasive facial rejuvenation solutions for the aging process. This widespread and increased demand for cosmetic injections brings a greater propensity for complications and adverse events. Choosing suitable patients for dermal filler is essential, as is concrete knowledge of the factors related to adverse events; however, there was no standardized tool to facilitate this process. The Joint Commission's Universal Safety checklist tools have been integrated into hospital surgical operating rooms and ambulatory outpatient settings across America and internationally and have successfully reduced errors in patient safety and outcomes. This article establishes the importance of integrating the Assessment Cosmetic Injection Safety Tool (ACIST), a standardized preinjection safety tool, into the cosmetic practice to decrease the incidence of adverse events associated with dermal filler and to achieve optimal patient satisfaction and outcomes. The ACIST was designed from the scientific literature, piloted at an urban cosmetic practice in the southern United States, finalized on the basis of feedback from participating staff members at the pilot study center, and disseminated to cosmetic nurse injectors.

3D facial morphometry in Italian patients affected by Aicardi syndrome.

Aicardi syndrome (AIC) is a rare congenital neurodevelopmental disorder of unknown etiology, that affects almost exclusively females, originally characterized by corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. The current diagnostic criteria also include qualitative facial features (prominent premaxilla, upturned nasal tip, decreased nasal bridge angle, sparse lateral eyebrows, and microphthalmia) that still need quantification. A three-dimensional (3D) photogrammetric assessment of 11 Italian females, age 7-32 years, who satisfied AIC criteria, was performed. Linear distances and angles were computed from soft-tissue facial landmarks coordinates. The z-score values were calculated using data of 850 healthy reference females matched for age and compared by Mann-Whitney test (p < .01). Patients showed a shorter philtrum and right side orbital height (mean z-scores: -1.7, -0.9), shorter superior, middle, and inferior facial depths (mean z-scores: -1.3, -2.2, -2.3), and a smaller length of mandibular ramus (mean z-score: -2.1); conversely, they showed larger nasal and lower facial widths, and lower facial convexity (mean z-scores: 1.7, 1.4, 2.4). The inclinations of the orbit versus the true horizontal were increased bilaterally (mean z-scores: 1.8, 1.1). Some common facial abnormalities were quantified in AIC patients using a noninvasive instrument. They may help clinicians in performing a definite AIC diagnosis in atypical or doubt cases.