Clinical application of high-resolution spiral CT scanning in the diagnosis of auriculotemporal and ossicle.

Precision and intelligence in evaluating the complexities of middle ear structures are required to diagnose auriculotemporal and ossicle-related diseases within otolaryngology. Due to the complexity of the anatomical details and the varied etiologies of illnesses such as trauma, chronic otitis media, and congenital anomalies, traditional diagnostic procedures may not yield accurate diagnoses. This research intends to enhance the diagnosis of diseases of the auriculotemporal region and ossicles by combining High-Resolution Spiral Computed Tomography (HRSCT) scanning with Deep Learning Techniques (DLT). This study employs a deep learning method, Convolutional Neural Network-UNet (CNN-UNet), to extract sub-pixel information from medical photos. This method equips doctors and researchers with cutting-edge resources, leading to groundbreaking discoveries and better patient healthcare. The research effort is the interaction between the CNN-UNet model and high-resolution Computed Tomography (CT) scans, automating activities including ossicle segmentation, fracture detection, and disruption cause classification, accelerating the diagnostic process and increasing clinical decision-making. The suggested HRSCT-DLT model represents the integration of high-resolution spiral CT scans with the CNN-UNet model, which has been fine-tuned to address the nuances of auriculotemporal and ossicular diseases. This novel combination improves diagnostic efficiency and our overall understanding of these intricate diseases. The results of this study highlight the promise of combining high-resolution CT scanning with the CNN-UNet model in otolaryngology, paving the way for more accurate diagnosis and more individualized treatment plans for patients experiencing auriculotemporal and ossicle-related disruptions.

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.

BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457). METHODS: This study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2. RESULTS: The proband, a 5-day-old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved. CONCLUSION: As with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required.

Sirolimus-coated Eustachian tube balloon dilatation for treating Eustachian tube dysfunction in a rat model.

Eustachian tube balloon dilatation (ETBD) has shown promising results in the treatment of ET dysfunction (ETD); however, recurrent symptoms after ETBD frequently occur in patients with refractory ETD. The excessive pressure of balloon catheter during ETBD may induce the tissue hyperplasia and fibrotic changes around the injured mucosa. Sirolimus (SRL), an antiproliferative agent, inhibits tissue proliferation. An SRL-coated balloon catheter was fabricated using an ultrasonic spray coating technique with a coating solution composed of SRL, purified shellac, and vitamin E. This study aimed to investigate effectiveness of ETBD with a SRL-coated balloon catheter to prevent tissue proliferation in the rat ET after ETBD. In 21 Sprague-Dawley rats, the left ET was randomly divided into the control (drug-free ETBD; n = 9) and the SRL (n = 9) groups. All rats were sacrificed for histological examination immediately after and at 1 and 4 weeks after ETBD. Three rats were used to represent the normal ET. The SRL-coated ETBD significantly suppressed tissue proliferation caused by mechanical injuries compared with the control group. ETBD with SRL-coated balloon catheter was effective and safe to maintain ET luminal patency without tissue proliferation at the site of mechanical injuries for 4 weeks in a rat ET model.

Otologic disease trends in Japan post-COVID-19 outbreak: A retrospective time-series analysis.

OBJECTIVE: To evaluate the potential impact of coronavirus disease 2019 (COVID-19) and vaccinations on otologic diseases, including facial nerve paralysis (including Ramsay Hunt syndrome), vestibular neuritis, sudden sensorineural hearing loss, and Meniere's disease. METHODS: In this retrospective study, we conducted a time-series analysis employing a causal impact algorithm on a large-scale inpatient database in Japan. We compared the actual number of hospitalized patients with otologic diseases to two predictions: one without any covariates and another with a covariate accounting for the reduction in the number of hospitalized patients due to lockdown measures. Additionally, we performed Granger causality tests to ensure the robustness of our findings. RESULTS: No significant increase was noted in the number of hospitalized patients with otologic diseases following the onset of the COVID-19 pandemic in the causal impact analysis. Similarly, no notable surge was observed in hospitalizations for these diseases following the introduction of the COVID-19 vaccine. The Granger causality tests results aligned with the causal impact analysis findings. CONCLUSION: Our findings indicate that COVID-19 and vaccinations had minimal discernible effects on hospitalization of patients with otologic diseases, suggesting that otologic diseases may not be significantly impacted by COVID-19 and vaccinations, which could have implications for public health policies and the allocation of healthcare resources during a pandemic. Further research and monitoring of long-term effects are warranted to validate these findings and guide healthcare decision-making.

Surgical Option for External Auditory Canal Cholesteatoma: A Case Report.

External Auditory Canal Cholesteatomas (EACC), is an exceptionally rare condition with a prevalence of only 0.1-0.5% among new patients1. EACC are known to possess bone eroding properties, causing a variety of complications, similar to the better-known attic cholesteatomas. We describe here the novel surgical management of a case of EACC. She is 38-year-old female who presented with otorrhea for 6 months. Clinical examination and radiological investigations suggested the diagnosis of an external auditory canal cholesteatoma. The patient underwent modified radical mastoidectomy with type 1 tympanoplasty with meatoplasty. Post-operatively, the patient showed marked clinical improvement.

Reconstruction of an obliterated Eustachian tube: transnasal lighted guidewire catheter stenting.

An obliterated Eustachian tube (ET) is a rare occurrence that can lead to chronic otitis media (OM) and aural fullness even with treatment. Our study presents a review of the literature on methods of stenting the ET. We additionally present a case of a man with mucoepidermoid carcinoma of the ET who underwent a radical nasal pharyngectomy with reconstruction and adjuvant radiation, and who had symptoms of intolerable otorrhea after tympanostomy tube placement to treat aural fullness and mucoid OM. We used a novel method of stenting the ET using a transnasal lighted guidewire catheter and steroid eluting stents placed along the entire medial ET. Previously described methods in the literature were unable to be used due to the complex middle ear anatomy filled with granulation tissue and the lack of a visible nasopharyngeal ET ostium available for straightforward placement of the stent. The procedure was successful, and postoperatively, the patient experienced decreased otorrhea.

Making Recommendations for an Evaluation and Treatment Algorithm for Patients with Ear Fullness and No Objective Abnormalities.

OBJECTIVE: To make recommendations for evaluation, approach to counseling and treatment for patients who present with ear fullness without abnormalities on otomicroscopic examination, standard audiometric studies, or imaging results. METHODS: Retrospective chart review of adult patients in a tertiary referral center presenting with ear fullness and/or otalgia without external, middle, and/or inner ear pathologies. Data collected include demographics (age and gender), laterality and duration of symptoms, co-morbid conditions and final diagnoses of temporomandibular joint (TMJ) dysfunction, intermittent Eustachian tube dysfunction (iETD), migraine disorder, and anxiety. RESULTS: In the span of 8 years of a single neurotologist's practice, 964 patients presented with ear fullness. After excluding all instances where external, middle, and inner ear disorders were identified and where audiometric and radiologic findings were abnormal, 263 patients had ear fullness and no objective causes. Women were more likely than men to complain of ear fullness and/or otalgia and were also more likely to present with no objective abnormalities ( p < 0.05). Patients who reported isolated ear fullness were more likely to be diagnosed with iETD, whereas patients who reported pain were more likely to be diagnosed with TMJ dysfunction (TMJD). Fourteen patients (5.3%) had completely unexplained sensation of ear fullness. CONCLUSIONS: There were 94.7% of the patients presenting with unexplained ear fullness were diagnosed as having a possible contribution of TMJ dysfunction, IETD, migraine disorder, anxiety, or a combination of these conditions to their symptomatology. Directing treatments toward these diagnoses may alleviate symptoms of ear fullness or, if unsuccessful, provide an avenue for counseling in the framework of functional neurologic disorders.

When Can Children Perform Valsalva and Toynbee Maneuvers? An Exploratory Study.

OBJECTIVES: Barochallenge-induced Eustachian tube dysfunction (ETD) is difficult to diagnose because the examination is often normal during clinical assessment. In adults, functional tympanometry testing, performed by asking the patient to Valsalva and Toynbee while measuring the pressure shift, can aid in the diagnosis of ETD. However, standardized values do not exist in children. We aim to determine the age at which children can perform these maneuvers and the normative values in this population. METHODS: Patients with a normal basic ear examination 4 years and older, presenting to the pediatric Otolaryngology clinic, were recruited. Otoscopy, baseline tympanometry, followed by Valsalva and Toynbee maneuvers were performed. Because there are no pediatric norms, we hypothesized that children would achieve the same minimum normal pressure shift as cited in the adult literature (+20 daPa or higher for Valsalva and -20 daPa or lower for Toynbee). The data were analyzed using receiver operating characteristic curves and logistic regression. RESULTS: One hundred sixty-eight children (276 ears) were assessed. Participants as young as 4 years old were able to perform a Valsalva and Toynbee. Age cut-offs at which children achieved adult norms were 12.5 years ( p = 0.016) and 8.5 years ( p = 0.071) for Valsalva and Toynbee maneuvers, respectively. Mean pressure shift ranged from +29 to -36 daPa, and males were 2.5 times more likely to achieve Toynbee compared with females ( p = 0.006). CONCLUSIONS: Functional tympanometry testing may be used to help diagnose barochallenge-induced ETD in older children.

Chronic otorrhea and osteomyelitis of the external auditory canal by Achromobacter xylosoxidans: an uncommon diagnosis.

PURPOSE: Achromobacter xylosoxidans is an emerging pathogen mainly associated with resistant nosocomial infections. This bacteria had been isolated in the ear together with other pathogens in cultures from patients with chronic otitis media, but it had never been reported as a cause of osteomyelitis of the external auditory canal. CASE PRESENTATION: We present a unique case of a healthy 81-year-old woman who presented with left chronic otorrhea refractory to topical and oral antibiotic treatment. Otomicroscopy revealed an erythematous and exudative external auditory canal (EAC) with scant otorrhea. The tympanic membrane was intact, but an area of bone remodeling with a small cavity anterior and inferior to the bony tympanic frame was observed. Otic culture isolated multi-drug-resistant A. xylosoxidans, only sensitive to meropenem and cotrimoxazole. Temporal bone computed tomography showed an excavation of the floor of the EAC compatible with osteomyelitis. Targeted antibiotherapy for 12 weeks was conducted, with subsequent resolution of symptoms and no progression of the bone erosion. CONCLUSIONS: Atypical pathogens such as A. xylosoxidans can be the cause of chronic otitis externa. Early diagnosis and specific antibiotherapy can prevent the development of further complications, such as osteomyelitis. In these cases, otic cultures play an essential role to identify the causal germ. This is the first case of EAC osteomyelitis due to A. xylosoxidans reported to date.

Cocaine-associated Eustachian tube stenosis causing chronic 'glue ear': a rare cocaine-induced destructive lesion.

BACKGROUND: Cocaine is one of the most used recreational drugs. Whilst medical uses exist, chronic recreational nasal use of cocaine is associated with progressive destruction of the osseocartilaginous structures of the nose, sinuses and palate - termed cocaine-induced midline destructive lesions. CASE REPORT: A 43-year-old male with a history of chronic cocaine use, presented with conductive hearing loss and unilateral middle-ear effusion. Examination under anaesthesia revealed a completely stenosed left Eustachian tube orifice with intra-nasal adhesions. The adhesions were divided and the hearing loss was treated conservatively with hearing aids. Whilst intra-nasal cocaine-induced midline destructive lesions are a well-described condition, this is the first known report of Eustachian tube stenosis associated with cocaine use. CONCLUSION: This unique report highlights the importance of thorough history-taking, rhinological and otological examination, and audiometric testing when assessing patients with a history of chronic cocaine use. This paper demonstrates the complexity of managing hearing loss in such cases, with multiple conservative and surgical options available.

Fungal Otitis Externa (Otomycosis) Associated with Aspergillus Flavus: A Case Image.

A 48-year-old man presented with a chief complaint of intermittent right ear otorrhea of several-month duration, occasional otalgia and progressive unilateral hearing impairment. He also reported frequent episodes of headache and pressure in the sinuses and maxilla. Previous systemic treatment with antibiotics failed to alleviate the symptoms. A head/neck CT showed completely normal mastoid, middle ear and external auditory canal regions without any evidence of opacification or bone erosion. Otoscopic examination of the right ear disclosed aggregates of dried, brown, fibrillar material and debris occluding the external auditory canal and obstructing the otherwise intact tympanic membrane. Dilation of the external auditory canal or thickening of the tympanic membrane were not appreciated. The canal was debrided and the fibrillar material was placed in formalin. Histopathologic examination revealed numerous branching, septated fungal hyphae organized in densely-packed clusters. In other areas, the fungal hyphae abutted or were attached to lamellated collections of orthokeratin. As highlighted by GMS staining, the fungi were morphologically compatible with Aspergillus species. The clinicopathologic findings supported a diagnosis of fungal otitis externa, while the numerous anucleate squamous cells were compatible with colonization of an underlying, probably developing, cholesteatoma. Culture of material isolated from the external auditory canal confirmed the presence of Aspergillus flavus. In this illustrative case, we present the main clinical and microscopic characteristics of Aspergillus-related otomycosis developing in the setting of a tautochronous cholesteatoma.

Eustachian Tube Balloon Dilation in Children: Short- and Long-Term Outcome.

OBJECTIVE: Eustachian Tube Balloon Dilation (ETBD) represents an innovative therapeutic approach for chronic Eustachian tube dysfunction (CETD), a common disease in children. Some evidence of a benefit of ETBD in the adults exist in contrast to sparse reports in children. The objective was to analyze short- and long-term outcome of ETBD in children with CETD. METHODS: A retrospective chart-review was performed in a cohort of 19 children (mean age 13 years, 7-17) who underwent ETBD. The following parameters were analyzed: tubomanometry (R-value), tympanogram, hearing (CPT-AMA, Air-bone gap [ABG]), Eustachian Tube Score (ETS and ETS-7), and Eustachian Tube Disease questionnaire (ETDQ). RESULTS: Twenty-four ears were dilated (in 5 patients subsequently after successful first intervention) and grouped as A (17) without and B (7) with additional T-tube insertion. Most children suffered from either chronic otitis media with effusion or chronic perforation (12, 63%), the remainder comprising recurrent otitis media, adhesive otitis media and CETD with barotrauma. Mean duration of symptoms were 7/8.2 years and mean follow-up 13.7/11.1 months. Eighty percent of patients reported a subjective benefit. Accordingly, the R-value, ETS, and ETS-7 were significantly (P < .05) improved. Tympanometry, CPT-AMA and ABG showed a positive trend, but the result was not significant. Tympanic retraction remained largely the same; a spontaneous closure of a chronic tympanic perforation was seen in 1 of 3 cases. CONCLUSIONS: The high subjective benefit and some significant objective improvement warrants further analysis of ETBD as part of the therapeutic management in pediatric CETD.

Registration of preoperative temporal bone CT-scan to otoendoscopic video for augmented-reality based on convolutional neural networks.

PURPOSE: Patient-to-image registration is a preliminary step required in surgical navigation based on preoperative images. Human intervention and fiducial markers hamper this task as they are time-consuming and introduce potential errors. We aimed to develop a fully automatic 2D registration system for augmented reality in ear surgery. METHODS: CT-scans and corresponding oto-endoscopic videos were collected from 41 patients (58 ears) undergoing ear examination (vestibular schwannoma before surgery, profound hearing loss requiring cochlear implant, suspicion of perilymphatic fistula, contralateral ears in cases of unilateral chronic otitis media). Two to four images were selected from each case. For the training phase, data from patients (75% of the dataset) and 11 cadaveric specimens were used. Tympanic membranes and malleus handles were contoured on both video images and CT-scans by expert surgeons. The algorithm used a U-Net network for detecting the contours of the tympanic membrane and the malleus on both preoperative CT-scans and endoscopic video frames. Then, contours were processed and registered through an iterative closest point algorithm. Validation was performed on 4 cases and testing on 6 cases. Registration error was measured by overlaying both images and measuring the average and Hausdorff distances. RESULTS: The proposed registration method yielded a precision compatible with ear surgery with a 2D mean overlay error of 0.65 ± 0.60 mm for the incus and 0.48 ± 0.32 mm for the round window. The average Hausdorff distance for these 2 targets was 0.98 ± 0.60 mm and 0.78 ± 0.34 mm respectively. An outlier case with higher errors (2.3 mm and 1.5 mm average Hausdorff distance for incus and round window respectively) was observed in relation to a high discrepancy between the projection angle of the reconstructed CT-scan and the video image. The maximum duration for the overall process was 18 s. CONCLUSIONS: A fully automatic 2D registration method based on a convolutional neural network and applied to ear surgery was developed. The method did not rely on any external fiducial markers nor human intervention for landmark recognition. The method was fast and its precision was compatible with ear surgery.

150 years ago: Schwartze's 1873 mastoidectomy and its implementation over the following 2 years.

BACKGROUND: In 1873, Hermann Schwartze and Adolf Eysell described a new surgical technique for treating mastoid disease using a mallet, chisels, and gouges of various sizes instead of trephines or drill instruments also called "modern mastoidectomy." On the 150th jubilee of this landmark article, we pay tribute by studying the reception and implementation of mastoidectomy in the 2 years following its publication. METHODS: The commentaries published in the otological and medical literature between the second part of 1873 to the end of 1875 were studied with an emphasis on the three specialized otological journals and the otological textbooks that existed during this period. RESULTS AND CONCLUSION: The princeps paper Ueber die künstliche Eröffnung des Warzenfortsatzes ("On the artificial opening of the mastoid process") by Hermann Schwartze and Adolf Eysell published in 1873 was rapidly disseminated in the medical literature for nearly 1 year, and then entered a phase of evaluation followed by a phase of extension and implementation, before finding its definitive place in the history of mastoid process surgery.

Ma te Whakarongo-a qualitative study exploring the impact of middle ear disease on New Zealand Maori.

AIM: The study aimed to explore the impact of middle ear disease on the lives of New Zealand Maori. Ear disease is common, yet there is a paucity of research into the effect it has on people's lives, particularly indigenous populations. METHOD: The study used Kaupapa Maori-based qualitative methodology and involved a series of seven semi-structured interviews with Maori adults living with middle ear disease. RESULTS: All participants felt there were delays in recognition and treatment of their ear condition and that there were barriers to accessing healthcare. The ear condition prevented participation in cultural and recreational activities, particularly those involving water. The associated hearing loss affected education and employment opportunities, and together with ear discharge, resulted in social isolation and disconnection from Te Ao Maori (the Maori world). Overall, the condition impacted negatively on mental and spiritual wellbeing. Participants felt that funding for hearing aids, earlier recognition and treatment of the condition and healthcare staff with a better understanding of Te Ao Maori could reduce the morbidity associated with middle ear disease. CONCLUSION: The study demonstrates that living with middle ear disease presents many challenges and disadvantages for Maori and the importance of early detection and referral to specialist care.

Safety, tolerability, and effect of a single aural dose of Dornase alfa at the time of ventilation tube surgery for otitis media: A Phase 1b double randomized control trial.

BACKGROUND: One third of children require repeat ventilation tube insertion (VTI) for otitis media. Disease recurrence is associated with persistent middle ear bacterial biofilms. With demonstration that Dornase alfa (a DNase) disrupts middle ear effusion biofilms ex vivo, we identified potential for this as an anti-biofilm therapy to prevent repeat VTI. First, safety and tolerability needed to be measured. METHODS: This was a phase 1B double-blinded randomized control trial conducted in Western Australia. Children between 6 months and 5 years undergoing VTI for bilateral middle ear effusion were recruited between 2012 and 2014 and followed for two years. Children's ears were randomized to receive either Dornase alfa (1 mg/mL) or 0.9 % sodium chloride (placebo) at time of surgery. Children were followed up at 2 weeks post-VTI and at 3-monthly intervals for 2 years. Outcomes assessed were: 1) safety and tolerability, 2) otorrhoea frequency, 3) blocked or extruded ventilation tube (VT) frequency, 4) time to blockage or extrusion, 5) time to infection recurrence and/or need for repeat VTI. RESULTS: Sixty children (mean age 2.3 years) were enrolled with 87 % reaching study endpoint. Treatment did not change otorrhoea frequency. Hearing improved in all children following VTI, with no indication of ototoxicity. Dornase alfa had some effect on increasing time until VT extrusion (p = 0.099); and blockage and/or extrusion (p = 0.122). Frequency of recurrence and time until recurrence were similar. Fourteen children required repeat VTI within the follow-up period. CONCLUSION: A single application of Dornase alfa into the middle ear at time of VTI was safe, non-ototoxic, and well-tolerated. TRIAL REGISTRATION: ACTRN12623000504617.

Remote paediatric ear examination comparing video-otoscopy and still otoscopy clinician rated outcomes.

OBJECTIVE: Telemedicine, particularly real time video-otoscopy in rural and remote Australia holds great potential in assessing and managing otology conditions. There is good evidence of store and forward images for assessment, however limited evidence exists for the use of real-time video-otoscopy. The objective of this study was to assess the validity of using real time video-otoscopy, compared to standard store and forward still image otoscopy, in a paediatric population. METHOD: Fifty-two paediatric tympanic membranes in 27 patients were examined and photographed by a telehealth facilitator with prior otoscope training. This occurred at two rural Western Australian health centre sites. These images were stored and forwarded to a tertiary paediatric hospital for otolaryngology department assessment on the day of real-time video-otoscopy consultation. During this consultation the same twenty-seven patients underwent real-time video-otoscopy assessment, which was recorded. Across six domains including, image quality, focus, light, cerumen amount, field of view and tympanic membrane landmarks, real-time video-otoscopy was compared against still image capture. The recording of each real-time video-otoscopy and still image tympanic membrane was assessed by two otology specialists for the ability to diagnose each as either normal or abnormal. An inter-rater reliability agreement was then calculated. RESULTS: There was greater image adequacy across five of the six domains for real time video-otoscopy compared to standard store and forward otoscopy images. Substantial agreement in diagnosing each tympanic membrane as either normal or abnormal between each rater was evident. CONCLUSION: This study supports the use of real time video-otoscopy during telemedicine consultation. With greater image quality, focus, light, field of view and identification of tympanic membrane landmarks video-otoscopy compared to still images has broad clinical applications. This includes primary assessment of the tympanic membrane and post operative follow-up clinical settings. Video-otoscopy offers a promising new way to over-come barriers in delivering ear health care in rural populations.

Examining relationships between parent-reported factors and recurring ear symptoms among Aboriginal and Torres Strait Islander children.

ISSUE ADDRESSED: Aboriginal and Torres Strait Islander child ear health is complex and multiple. We examined relationships between parent-reported sociodemographic, child health, health service access factors and ear symptoms among Aboriginal and Torres Strait Islander children aged 3 to 7 years. METHODS: The Longitudinal Study of Indigenous Children is a large child cohort study with annual parent-reported data collection. Generalised linear mixed model analyses examined Wave 1 (1309 children 0-5 years; 2008) predictors of being free of parent-reported ear symptoms in both Waves 2 and 3. RESULTS: A total of 1030 (78.7%) had no reported ear symptoms in either Wave 2 or 3. In the fully adjusted model, children who had been hospitalised in the past year (aOR = 2.16; 95% CI 1.19-3.93) and those with no ear symptoms (aOR = 2.94; 95% CI, 1.59-5.46) at Wave 1 had higher odds of no ear symptoms in both the subsequent waves. There were also relationships between parent main source of income-government pension or allowance as well as parents who reported no history of their own ear symptoms and higher odds of no ear symptoms in Waves 2 and 3 after partial adjustment for sociodemographic factors. CONCLUSION: These findings suggest relationships between different sociodemographic and health factors and parent-reported ear symptoms among Aboriginal and Torres Strait Islander children that warrant further investigation. So what? Children with parent-reported ear symptoms during the early years need holistic support to prevent future ear symptoms that impact health, social and educational life trajectories.

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

BACKGROUND: Primrose syndrome is an autosomal dominant disorder characterized by craniofacial dysmorphism, mental retardation, developmental delay, progressive muscle atrophy and calcification of the earlobe due to a mutation in the ZBTB20. METHOD: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband's family through Trio whole exome sequencing. RESULT: A novel missense variant c.1927T>A(p.F643I) in exon 14 of the ZBTB20 (NM_001348803) was identified in the proband. This is the first report case of primrose syndrome in China, and our case extends the variant spectrum of ZBTB20 and further strengthens the understanding of primrose syndrome. CONCLUSION: However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future.