Auricular Research Articles

Validating a New Surgical Gouge for Autogenous Ear Reconstruction During Simulated Microtia Workshops

Autologous ear reconstruction remains a gold standard surgical technique for the treatment of external ear deformities. This highly technical procedure requires experience, an understanding of aesthetic principles, and a surgical approach that can consistently produce optimal results. As an experienced microtia surgeon having trained under Dr Satoru Nagata, the senior author has emphasized the importance of appropriate surgical tools during this procedure. Here, we present results of a novel surgical handle and gouge meant to optimize complex cartilage carving. The senior author regularly holds microtia workshops to help train individuals around the United States. During 2 of such workshops held in 2022, participants were given access to both the standard, commercially available surgical gouge as well as a prototype of a novel surgical gouge developed by the authors. Participants were then given a Likert-scale survey to assess their subjective feedback for both tools. Twenty-seven total participants completed the postworkshop survey. Cumulatively, the results demonstrated that participants rated the custom gouge significantly higher than its counterpart (4.2 versus 3.2, P<0.001). They also had a significantly higher likelihood of using the custom gouge again (4.1 versus 3.2, P=0.023). The custom gouge designed by the senior author demonstrated higher subjective ratings when compared with what is currently available on the market. This serves as a primary validation study that demonstrates feasibility for further assessment in a true operative setting.

Anatomic Study of Vascular Supply of the External Ear Using CT Angiography in Congenital Microtia.

The morphology of the arteries of the external ear on the affected side of congenital microtia differs from normal. The present study aimed to use computed tomography angiography (CTA) to describe the anatomic variations of arteries in microtia and provide theoretical guidance for the first stage of autologous auricular reconstruction by the 2-stage method. Ten patients with unilateral microtia from May 2021 to August 2021 were included. Computed tomography angiography and 3-dimensional reconstruction were used to analyze the supply and branches of the main arteries of the auricle. The number of the superficial temporal artery (STA) and posterior auricular artery (PAA) branches to the auricle, vessel diameter, and the presence or absence of the STA and PAA branches were documented. The skin flap and incision were designed combined with the anatomic of auricular arteries. The blood supply of the auricle mainly came from the STA and PAA. The STA's preauricular branch and PAA's posterior auricular branch were absent to varying degrees, and the middle branch was more prominent. The average diameter of the STA on the healthy auricle was 3.07±0.96mm, and the average diameter of the PAA was 1.72±0.50mm. The average diameter of the STA on the microtia auricle was 2.65±0.42mm, and the average diameter of the PAA was 1.53±0.67mm. There was a statistically significant difference in the diameter of STA between the healthy auricle and the microtia auricle (P=0.006). However, there was no significant difference in the diameter of the PAA between the healthy auricle and the microtia auricle (P=0.112). The skin flap and incision were designed and combined with the preoperative CTA images, and no flap necrosis was observed in all patients. The vascular distribution of arteries in microtia patients was clearly and accurately assessed by CTA. In our experience, the data and detailed imaging were useful in designing skin flaps and incisions during the first stage of autologous auricular reconstruction by the 2-stage method.

Prımary External Audıtory Canal Cholesteatoma

Abstract External auditory canal (EAC) cholesteatoma is characterized by a bony defect in the auditory canal with a cystic structure lined by keratinizing stratified squamous epithelium and retention of keratin debris. Clinically, patients present with chronic dull pain, otorrhea, or conductive hearing loss. Lamellar keratin debris in a bony defect in the case of an intact tympanic membrane is highly suggestive of external ear canal cholesteatoma. It must be differentiated from keratosis obturans. The locally erosive and indolent nature of cholesteatoma in the bony external ear canal may result in complications due to erosion into adjacent structures such as mastoid cells, semicircular canals, fallopian canal, and temporomandibular joint. The treatment options include conservative therapy and surgery. In this case report, we presented a 75-year-old male with a primary left EAC cholesteatoma underlining the diagnostic and therapeutic features of this rare disease.

Antifungal Susceptibility Pattern of Fungi Isolated from Patients with Otomycosis Attending a Tertiary Health Care Institution in Sokoto, Nigeria

Abstract Background: Antifungal therapy is an important component of patient management for acute and chronic mycoses. However, treatment choices are restricted because of the scanty number of antifungal drug classes. Medical treatment of otomycosis is further compromised by the emergence of antifungal drug resistance, and these limits available drug classes as treatment options. Once considered a rare occurrence, antifungal drug resistance is on the rise in many high-risk medical centers. Most concerning is the evolution of multidrug-resistant organisms refractory to several different classes of antifungal agents, especially among common Candida species. Aim: This study seeks to identify the fungal species implicated in otomycosis among patients attending a tertiary health-care institution in Sokoto, Nigeria and determine its susceptibility pattern using commonly used antifungal agents. Methods: A descriptive, cross-sectional, hospital-based study was conducted on 100 patients with otitis externa. The ear discharge specimens were collected and analyzed using the standard microbial techniques. The antibiotic susceptibility profiles were determined for 12 different antifungal by the standard disk diffusion method. Data were analyzed using the SPSS software version 25 and the P < 0.05 was considered as statistically significant. Results: One hundred and twenty-four external ear discharge samples were collected from either right ear, left ear, or both ears (some patients has unilateral while others have bilateral disease and those with bilateral disease, samples were taken from the two ears). Aspergillus niger 30 (40.0%) was the most commonly isolated fungi in this study, followed by Candida spp. 25 (33.3%), Aspergillus fumigatus 5 (6.7%), Mucor 5 (6.7%), Penicillum 4 (5.3%), Aspergillus flavus 3 (4.0%), and Rhizopus 3 (4.0%) %). The isolated fungi were tested for antifungal sensitivity to 6 antifungal discs. A. niger shows good susceptibility to clotrimazole (100%), nystatin (90%), and fluconazole (83.3%) but was resistant to griseofulvin, terbinafine, and ketoconazole. A. flavus and A. fumigatus also show good sensitivity to clotrimazole, nystatin, and fluconazole. Candida albicans was only susceptible to clotrimazole but resistant to other tested antifungal disc. Rhizopus and Penicillum species showed 100.0% sensitivity to clotrimazole but also resistant to other tested antifungal discs. Conclusions: This study revealed that Aspergillus and Candida species were the most common fungal pathogens causing otomycosis. A. niger is the predominant fungal isolate. Molds isolates showed good susceptibility to clotrimazole, while highest resistance was to terbinafine and ketoconazole. Yeasts isolates showed highest susceptibility to clotrimazole and highest resistance to nystatin and fluconazole.

Resistant otorrhea in a diabetic; revealing form of an exceptional carcinoma of the external ear canal

Resistant otorrhea in a diabetic; revealing form of an exceptional carcinoma of the external ear canal

BMP signaling maintains auricular chondrocyte identity and prevents microtia development by inhibiting protein kinase A.

Elastic cartilage constitutes a major component of the external ear, which functions to guide sound to the middle and inner ears. Defects in auricle development cause congenital microtia, which affects hearing and appearance in patients. Mutations in several genes have been implicated in microtia development, yet, the pathogenesis of this disorder remains incompletely understood. Here, we show that Prrx1 genetically marks auricular chondrocytes in adult mice. Interestingly, BMP-Smad1/5/9 signaling in chondrocytes is increasingly activated from the proximal to distal segments of the ear, which is associated with a decrease in chondrocyte regenerative activity. Ablation of Bmpr1a in auricular chondrocytes led to chondrocyte atrophy and microtia development at the distal part. Transcriptome analysis revealed that Bmpr1a deficiency caused a switch from the chondrogenic program to the osteogenic program, accompanied by enhanced protein kinase A activation, likely through increased expression of Adcy5/8. Inhibition of PKA blocked chondrocyte-to-osteoblast transformation and microtia development. Moreover, analysis of single-cell RNA-seq of human microtia samples uncovered enriched gene expression in the PKA pathway and chondrocyte-to-osteoblast transformation process. These findings suggest that auricle cartilage is actively maintained by BMP signaling, which maintains chondrocyte identity by suppressing osteogenic differentiation.

BMP signaling maintains auricular chondrocyte identity and prevents microtia development by inhibiting protein kinase A

Elastic cartilage constitutes a major component of the external ear, which functions to guide sound to the middle and inner ears. Defects in auricle development cause congenital microtia, which affects hearing and appearance in patients. Mutations in several genes have been implicated in microtia development, yet, the pathogenesis of this disorder remains incompletely understood. Here, we show that Prrx1 genetically marks auricular chondrocytes in adult mice. Interestingly, BMP-Smad1/5/9 signaling in chondrocytes is increasingly activated from the proximal to distal segments of the ear, which is associated with a decrease in chondrocyte regenerative activity. Ablation of Bmpr1a in auricular chondrocytes led to chondrocyte atrophy and microtia development at the distal part. Transcriptome analysis revealed that Bmpr1a deficiency caused a switch from the chondrogenic program to the osteogenic program, accompanied by enhanced protein kinase A activation, likely through increased expression of Adcy5/8. Inhibition of PKA blocked chondrocyte-to-osteoblast transformation and microtia development. Moreover, analysis of single-cell RNA-seq of human microtia samples uncovered enriched gene expression in the PKA pathway and chondrocyte-to-osteoblast transformation process. These findings suggest that auricle cartilage is actively maintained by BMP signaling, which maintains chondrocyte identity by suppressing osteogenic differentiation.

Analysis of clinical manifestations and imaging features of facial nerve schwannomas

Objective:To explore the clinical manifestations and imaging characteristics, and to clarify the imaging value in the diagnosis of facial nerve schwannomas. Methods:Retrospectively analyze the data of 23 patients with facial nerve schwannomas confirmed by surgery and pathology in the Department of Otorhinolaryngology of the First Affiliated Hospital of the Air Force Military Medical University from September 2020 to September 2022, including 8 males and 15 females, aged 18-66 years old. Summarize and analyze their clinical symptoms, specialized examinations, and imaging findings. Results:The clinical manifestations were facial nerve paralysis in 15 cases（2 cases of HB Ⅳ, 6 cases of HB Ⅴ, 7 cases of HB Ⅵ）, hearing loss in 14 cases（5 cases of conductive deafness, 2 cases of mixed deafness, and 7 cases of severe sensorineural hearing loss）, 8 cases tinnitus, 7 cases ear pain, 4 cases dizziness, 4 cases headache, 2 cases ear pus, and parotid gland tumors in 6 cases presenting as local masses. Endoscopic examination revealed 8 cases of external ear canal tumors and 3 cases of intratympanic tumors. Combining temporal bone HRCT, MRI enhanced scanning, and CPR imaging techniques, 1 case involved the internal auditory canal segment, 2 cases in the tympanic segment, 6 cases in the parotid gland area. A total of 14 cases involved two or more segments of the internal auditory canal segment, the labyrinthine segment, geniculate ganglion, the tympanic segment, and the mastoid segment. When the tumors were large, adjacent structures were involved. It was found that 8 cases invaded the external auditory canal and tympanic cavity, ossicles were displaced or bony destruction; 3 cases invaded the jugular foramen area, and 1 case grew to the middle cranial fossa region with temporal lobe brain parenchymal compression. Conclusion:The clinical manifestations of facial nerve schwannomas are diverse. The combination of various imaging techniques will be conducive to topical and qualitative diagnosis and provide an important basis for treatment strategies.

Mycobiome of the external ear canal of healthy cows.

Malassezia yeasts belong to the normal skin microbiota of a wide range of warm-blooded animals. However, their significance in cattle is still poorly understood. In the present study, the mycobiota of the external ear canal of 20 healthy dairy Holstein cows was assessed by cytology, culture, PCR, and next-generation sequencing. The presence of Malassezia was detected in 15 cows by cytology and PCR. The metagenomic analysis revealed that Ascomycota was the predominant phylum but M. pachydermatis the main species. The Malassezia phylotype 131 was detected in low abundance. Nor M. nana nor M. equina were detected in the samples.

Congenital aural atresia in a 4‐month‐old Dalmatian

AbstractA 4‐month‐old female entire Dalmatian was presented for persistently excessive ceruminous discharge, suspected left aural malformation and decreased hearing. Otoscopic examination of the left ear showed a normal external meatus with an abnormal ending of the ear canal in a cul‐de‐sac. Computed tomography (CT) study of the head showed a diffusely tortuous and convoluted external ear canal with saccular distension and a stenotic area with the presence of a septum. Based on the clinical presentation and imaging findings, total ear canal ablation and lateral bulla osteotomy were performed. Macroscopically, the ear canal appeared to be sigmoid, as in the CT study. Notably, in the stenotic area, there was a membrane separating the vertical and horizontal ear canals. The histopathology of the external ear canal was consistent with that of hyperplastic otitis externa. No growth was observed on bacterial culture. The dog recovered uneventfully and no abnormalities were detected on re‐examination 2 weeks post‐surgery.

Functional and Genetic Analyses Unveil the Implication of CDC27 in Hemifacial Microsomia.

Hemifacial microsomia (HFM) is a rare congenital genetic syndrome primarily affecting the first and second pharyngeal arches, leading to defects in the mandible, external ear, and middle ear. The pathogenic genes remain largely unidentified. Whole-exome sequencing (WES) was conducted on 12 HFM probands and their unaffected biological parents. Predictive structural analysis of the target gene was conducted using PSIPRED (v3.3) and SWISS-MODEL, while STRING facilitated protein-to-protein interaction predictions. CRISPR/Cas9 was applied for gene knockout in zebrafish. In situ hybridization (ISH) was employed to examine the spatiotemporal expression of the target gene and neural crest cell (NCC) markers. Immunofluorescence with PH3 and TUNEL assays were used to assess cell proliferation and apoptosis. RNA sequencing was performed on mutant and control embryos, with rescue experiments involving target mRNA injections and specific gene knockouts. CDC27 was identified as a novel candidate gene for HFM, with four nonsynonymous de novo variants detected in three unrelated probands. Structural predictions indicated significant alterations in the secondary and tertiary structures of CDC27. cdc27 knockout in zebrafish resulted in craniofacial malformation, spine deformity, and cardiac edema, mirroring typical HFM phenotypes. Abnormalities in somatic cell apoptosis, reduced NCC proliferation in pharyngeal arches, and chondrocyte differentiation issues were observed in cdc27-/- mutants. cdc27 mRNA injections and cdkn1a or tp53 knockout significantly rescued pharyngeal arch cartilage dysplasia, while sox9a mRNA administration partially restored the defective phenotypes. Our findings suggest a functional link between CDC27 and HFM, primarily through the inhibition of CNCC proliferation and disruption of pharyngeal chondrocyte differentiation.

Integration of 3D-printed middle ear models and middle ear prostheses in otosurgical training

BackgroundIn otosurgical training, cadaveric temporal bones are primarily used to provide a realistic tactile experience. However, using cadaveric temporal bones is challenging due to their limited availability, high cost, and potential for infection. Utilizing current three-dimensional (3D) technologies could overcome the limitations associated with cadaveric bones. This study focused on how a 3D-printed middle ear model can be used in otosurgical training.MethodsA cadaveric temporal bone was imaged using microcomputed tomography (micro-CT) to generate a 3D model of the middle ear. The final model was printed from transparent photopolymers using a laser-based 3D printer (vat photopolymerization), yielding a 3D-printed phantom of the external ear canal and middle ear. The feasibility of this phantom for otosurgical training was evaluated through an ossiculoplasty simulation involving ten otosurgeons and ten otolaryngology–head and neck surgery (ORL-HNS) residents. The participants were tasked with drilling, scooping, and placing a 3D-printed partial ossicular replacement prosthesis (PORP). Following the simulation, a questionnaire was used to collect the participants' opinions and feedback.ResultsA transparent photopolymer was deemed suitable for both the middle ear phantom and PORP. The printing procedure was precise, and the anatomical landmarks were recognizable. Based on the evaluations, the phantom had realistic maneuverability, although the haptic feedback during drilling and scooping received some criticism from ORL-HNS residents. Both otosurgeons and ORL-HNS residents were optimistic about the application of these 3D-printed models as training tools.ConclusionsThe 3D-printed middle ear phantom and PORP used in this study can be used for low-threshold training in the future. The integration of 3D-printed models in conventional otosurgical training holds significant promise.

Prospects for use of genetic tagging technology in animal husbandry

The efficiency of DNA extraction with using different extraction methods: from the cartilage tissue of the outer ear and the leukocyte fraction of whole blood of cattle, followed by an assessment of the possible prospects for the use of “genetic tagging” technology in animal husbandry has been compared in the work. It was established that according to the results of the research the highest concentration of DNA (146,26±13,180 ng/μl at p < 0,001) was obtained in samples from ear tissues when using the method of precipitation with reagents compared to isolating DNA from the leukocyte fraction of whole blood using highly eff ective methods extraction of genomic deoxyribonucleic acid on magnetic particles (22,80±3,138 ng/μl) and on columns (39,46±8,941 ng/μl). It was found when assessing DNA contamination with polypeptides that despite the fact that when using diff erent extraction methods, the ratio of optical densities at the corresponding absorption wavelengths A260/A280 was close to the optimal ~1,8. The smallest scatter of measurement values was obtained in DNA samples from earmarks tissue 1,89±0,008. In a subsequent comparison of available technologies for taking ear pluck tissue samples used for genetic research (population genetic characterization, genomic analysis, etc.), the FlexoPlusGeno “genetic tagging” system turned out to be the most preferable. In this case, the resulting ear pluck tissue sample is correlated with corresponding ear visual or RFID tags, which creates a “link” of the biomaterial to a specific animal with the ability to track it throughout its life. The technology under consideration is applicable for collecting and storing samples of cartilage tissue obtained by ear plucking from cattle, small ruminants, pigs and deer.

Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls. We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes, and a cohort of control patients, collected from 1981 to 2023 in Necker Hospital (Paris) with a visible external ear. The model consisted in extracting landmarks from photographs of external ears, in applying geometric morphometry methods, and in a classification step using machine learning. The approach was then tested on photographs of two groups of fetuses: controls and fetuses with CHARGE and MFDGA syndromes. The training set contained a total of 1489 ear photographs from 526 children. The validation set contained a total of 51 ear photographs from 51 fetuses. The overall accuracy was 72.6% (58.3%-84.1%, p<0.001), and 76.4%, 74.9%, and 86.2% respectively for CHARGE, control and MFDGA fetuses. The area under the curves were 86.8%, 87.5%, and 90.3% respectively for CHARGE, controls, and MFDGA fetuses. We report the first automatic fetal ear phenotyping model, with satisfactory classification performances. Further validations are required before using this approach as a diagnostic tool.

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

ObjectiveBranchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or cysts, as well as renal abnormalities.This study aims to identify the pathogenic variants by performing genetic testing on a family with Branchio-oto-renal /Branchio-otic (BO, OMIM#602,588) syndrome using whole-exome sequencing, and to explore possible pathogenic mechanisms.MethodsThe family spans 4 generations and consists of 9 individuals, including 4 affected by the BOR/BO syndrome. Phenotypic information, including ear malformation and branchial cleft, was collected from family members. Audiological, temporal bone imaging, and renal ultrasound examinations were also performed. Whole-exome sequencing was conducted to identify candidate pathogenic variants and explore the underlying molecular etiology of BOR/BO syndrome by minigene experiments.ResultsIntra-familial variability was observed in the clinical phenotypes of BOR/BO syndrome in this family. The severity and nature of hearing loss varied in family members, with mixed or sensorineural hearing loss. The proband, in particular, had profound sensorineural hearing loss on the left and moderate conductive hearing loss on the right. Additionally, the proband exhibited developmental delay, and her mother experienced renal failure during pregnancy and terminated the pregnancy prematurely. Genetic testing revealed a novel heterozygous variant NM_000503.6: c.639 + 3 A > C in the EYA1 gene in affected family members. In vitro minigene experiments demonstrated its effect on splicing. According to the American College of Medical Genetics (ACMG) guidelines, this variant was classified as likely pathogenic.ConclusionThis study highlights the phenotypic heterogeneity within the same family, reports the occurrence of renal failure and adverse pregnancy outcomes in a female patient at reproductive age with BOR syndrome, and enriches the mutational spectrum of pathogenic variants in the EYA1 gene.

Allergic contact dermatitis to in-ear headphones occurring in the external ear.

Allergic contact dermatitis to in-ear headphones occurring in the external ear.

Epidemiology of congenital malformations of the external ear in Hunan Province, China, from 2016 to 2020.

To describe the epidemiology of congenital malformations of the external ear (CMEE). Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016 to 2020. The prevalence of CMEEs is defined as the number of cases per 1000 fetuses (births and deaths at 28 weeks of gestation and beyond) (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. P < .05 was considered statistically significant. Crude odds ratios (ORs) were calculated to examine the association of sex, residence, and maternal age with CMEEs. Our study included 847,755 fetuses, and 14,459 birth defects were identified, including 1227 CMEEs (accounted for 8.49% of birth defects). The prevalences of birth defects and CMEEs were 17.06‰ (95%CI: 16.78-17.33) and 1.45‰ (95%CI: 1.37-1.53), respectively. A total of 185 microtia-anotias were identified, accounting for 15.08% of CMEEs, with a prevalence of 0.22‰ (95%CI: 0.19-0.25). And 1042 other CMEEs were identified, accounting for 84.92% of CMEEs. From 2016 to 2020, the prevalences of birth defects were 18.20‰, 18.00‰, 16.31‰, 16.03‰, and 16.47‰, respectively, showing a downward trend (χ2trend =8.45, P < .01); the prevalences of CMEEs were 1.19‰, 1.62‰, 1.80‰, 1.21‰, and 1.35‰, respectively, with no significant trend (χ2trend =0.09, P = .77). CMEEs were more common in males than females (1.60‰ vs 1.27‰, OR = 1.26, 95%CI: 1.12-1.41), in urban areas than in rural areas (1.77‰ vs 1.23‰, OR = 1.45, 95%CI: 1.29-1.62). The prevalences of CMEEs for maternal age < 20, 20-24, 25-29, 30-34, and ≥ 35 were 1.75‰, 1.27‰, 1.44‰, 1.47‰, and 1.58‰, respectively, with no significant difference (P > .05, reference: 25-29). Most CMEEs were diagnosed by clinical examinations (92.34%), and most CMEEs were diagnosed postpartum (within 7 days) (96.25%). In summary, we have presented the epidemiology of CMEEs in Hunan Province, China. CMEEs were more common in males than females, in urban areas than rural areas, whereas there was no significant difference in prevalence of CMEEs by maternal age. We inferred that CMEEs may be mainly related to genetics, and the mechanism needs to be examined in the future.

Graft Healing Process Following Cartilage Myringoplasty Without Trimming of the Perforation Margin.

Objective: The objective of this study was to endoscopically evaluate the graft healing process and graft success rate following cartilage myringoplasty, without trimming of the perforation margin or external ear canal (EAC) packing. Material and Methods: Patients with chronic tympanic membrane (TM) perforation underwent endoscope cartilage underlay myringoplasty, without trimming perforation margin or EAC packing. The healing process of the cartilage graft and the graft success rate were evaluated at 6 months postoperatively. Results: Fifty-eight ears were included in this study. At 1 week postoperatively, clinical inosculation and neovascularization of the graft were observed in small- and medium-sized perforations, but not in large or subtotal perforations. At 2 weeks postoperatively, graft clinical inosculation and neovascularization were completed in the small- and medium-sized perforations; however, neovascularization of the graft had only just begun in the large perforations. At 3 weeks postoperatively, completion of the graft clinical inosculation was achieved in 57 of the 58 ears. At 4 weeks postoperatively, complete neovascularization was achieved in all perforations. Of the 58 ears, postoperative infection resulted in residual perforation in 1 ear, and an insufficient graft resulted in residual perforation in a large perforation without infection. Overall, the graft success rate was 96.6% (56/58). There was no correlation between the graft success rate and graft neovascularization score. Conclusions: The graft healing process experienced the dilation of the blood vessels of the remnant TM, graft clinical inosculation, and neovascularization following cartilage myringoplasty without trimming of the perforation margin and EAC packing; however, the graft success rate was not related to the endoscopic graft neovascularization scores.

Adaptations to sociality in the mimetic and auricular musculature of the African wild dog (Lycaon pictus).

The African wild dog (Lycaon pictus) is a highly social canid that engages in sophisticated, coordinated group hunting tactics to procure large game. It is one of the most effective hunters of the African savannah, due to its highly developed communication methods. It also has large, mobile ears which enhance its auditory capabilities while hunting and assist with thermoregulation. Recent research suggested that certain muscles of facial expression, particularly those involved with expressive eyebrow movement, evolved solely in domestic dogs (Canis familiaris) to facilitate communication with their human owners. However, it is unclear whether highly social wild canid species may also employ similar expressive eye communication. We performed detailed dissections of an adult male L. pictus to evaluate and describe its mimetic and auricular musculature. Overall, L. pictus has well-developed facial and ear muscles. Musculi levator anguli oculi medialis (LAOM) and retractor anguli oculi lateralis (RAOL), mimetic muscles of hypothesized importance in domestic dog-human non-verbal communication, are enlarged in L. pictus, comparable in size to those of domestic dogs, as is m. orbicularis oculi. This morphology suggests that ocular facial expressions contribute to within-pack communication in wild dogs and are not unique to domestic dogs. The auricular muscles of L. pictus are well-developed, supporting greater leverage and fine manipulation of its large, mobile ears. These muscular adaptations facilitate the highly social ecology of African wild dogs and challenge current interpretations about the unique nature of domestic dog facial expressions.

Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.

De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS-like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations. Using trio-based whole-exome sequencing, a de novo missense variant in SOX11 (NM_003108.4: c.347A>G, p.Y116C) was identified and classified as pathogenic variant as per American College of Medical Genetics guidelines. Moreover, a systematic search of the literature yielded 12 publications that provided data of 55 SOX11 intragenic variants affecting various protein-coding regions of SOX11 protein. By quantitatively analyzing phenotypic spectrum information related to these 56 SOX11 variants (including our case), we found variants affecting different regions of SOX11 protein (high-mobility group [HMG] domain and non-HMG regions) appear to influence the phenotypic spectrum of organ malformations in CSS-9; variants altering the HMG domain were more likely to cause the widest range of organ anomalies. In summary, this is the first report of CSS with external ear malformation caused by pathogenic variant in SOX11, indicating that the SOX11 gene may be not only essential for the development of the inner ear but also critical for the morphogenesis of the external ear. In addition, thorough clinical examination is recommended for patients who carry pathogenic SOX11 variants that affect the HMG domain, as these variants may cause the widest range of organ anomalies underlying this condition.