The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.

The RNA-binding protein TRIM71 is essential for brain development, and recent genetic studies in humans have identified as a risk gene for congenital hydrocephal-us (CH). Here, we show that monoallelic missense mutations in are associated with hearing loss (HL) and inner ear aplasia in humans. Utilizing conditional knockout mice carrying a CH and HL-associated mutation, we demonstrate that loss of TRIM71 function during early otic development (embryonic day 9 to 10) causes severe HL.

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development.

The RNA-binding protein TRIM71 is essential for brain development, and recent genetic studies in humans have identified as a risk gene for congenital hydrocephaly (CH). Here, we show that mono-allelic missense mutations in are associated with hearing loss (HL) and inner ear aplasia in humans. Utilizing conditional knockout mice carrying a CH and HL-associated mutation, we demonstrate that loss of TRIM71 function during early otic development (embryonic day 9-10) causes severe hearing loss.

Validation of a 3D-Printed Multimaterial Transcanal Tympanoplasty Simulator for Endoscopic Ear Surgery.

Background: Simulation is an interesting tool to improve the learning curve of total endoscopic ear surgery (TEES), but hard 3D-printed temporal bones, and cadaveric or animal models have their limits. The objective of this study was to establish face, content, and construct validity for a new 3D-printed multimaterial transcanal tympanoplasty simulator.

Methods: Temporal bone hard and soft tissues were segmented from an anonymized CT scan and 3D-printed using Polyjet multimaterial technology.

IL-1β signaling modulates T follicular helper and regulatory cells in human lymphoid tissues.

Dysregulation of T follicular helper (Tfh) and T follicular regulatory (Tfr) cell homeostasis in germinal centers (GCs) can lead to antibody-mediated autoimmunity. While IL-1β modulates the GC response via IL-1R1 and IL-1R2 receptors on follicular T cells in animal models, its role in humans remains unclear. We analyzed Tfh and Tfr phenotypes in human secondary lymphoid organs (tonsils, spleen, and mesenteric lymph nodes) using flow cytometry, single-cell transcriptomics, and in vitro culture, comparing findings with samples from autoimmune patients.

EAONO/JOS, STAMCO, ChOLE & Potsic Staging of 271 Pediatric Cholesteatoma: Evidence-Based Mod-Pot Staging System.

Objective: The objective was to assess Potsic, EAONO/JOS, STAMCO, and ChOLE cholesteatoma staging systems in a large homogenous pediatric cohort with long-term follow-up and propose an evidence-based improved version.

Study Design: Cohort study.

Setting: Retrospective study in a tertiary referral center.

A Clinical-Grade Partially Decellularized Matrix for Tracheal Replacement: Validation In Vitro and In Vivo in a Porcine Model.

The management of extensive tracheal resection followed by circumferential replacement remains a surgical challenge. Numerous techniques are proposed with mixed results. Partial decellularization of the trachea with the removal of the mucosal and submucosal cells is a promising method, reducing immunogenicity while preserving the biomechanical properties of the final matrix.

Full circumferential human tracheal replacement: a systematic review.

Full Circumferential Tracheal Replacement (FCTR) is a surgical challenge, indicated in rare cases of extensive tracheal resection, with no consensus on surgical technique or materials. A systematic review according to PRISMA guidelines was carried out from 2000 to 2022 to identify cases of FCTR, to compare surgical indications, the nature of the tracheal substitutes and their immunological characteristics, surgical replacement techniques and vascularization. Thirty-seven patients, including five children, underwent FCTR surgery using 4 different techniques: thyrotracheal complex allograft (n = 2), aorta (n = 12), autologous surgical reconstruction (n = 19), tissue-engineered decellularized trachea (n = 4).

Pediatric Cholesteatoma Follow-Up: Residual and Recurrence in 239 Cases with Over 5-Year Hindsight.

Introduction: Pediatric cholesteatoma is an aggressive disease which requires long-term evaluation to assess management strategies. The objective was to determine optimal follow-up duration in pediatric cholesteatoma to detect residual and recurrent diseases.

Methods: This cohort study was set in a tertiary referral center.

Management of sleep-disordered breathing in patients with syndromic hemifacial macrosomia.

Purpose: Patients with syndromic hemifacial microsomia (SHFM) are at risk of obstructive sleep apnea (OSA). The aim of the study was to describe the prevalence of OSA and its management, especially in patients with Goldenhar syndrome (GS).

Methods: The respiratory polygraphies and clinical management of 15 patients, aged 2 to 23 years, evaluated at a national reference center, were analyzed.

Educational endoscopic videos improve teaching of middle ear anatomy.

Purpose: Videos and images are becoming an educational tool in every domain. The objective was to assess the contribution of short educational endoscopic videos in learning the complex anatomy of the tympanic cavity.

Methods: We conducted a prospective study amongst all the otolaryngology residents in 2021 in the greater Paris area (n = 74), from the first year to fifth year.

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma.

Congenital cholesteatoma accounts for 25% of cholesteatoma cases in children. Transcanal Endoscopic Ear Surgery (TEES) is ideal for these patients because it offers a wide endoscopic view of the middle ear and a minimally invasive approach. The two main limitations are the loss of one operative hand and a narrow external auditory canal in younger children.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Introduction: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Artificial Intelligence (AI)-based model to differentiate MFDM ears from non-syndromic control ears (binary classification), and from ears of the main differential diagnoses of this condition (multi-class classification): Treacher Collins (TC), Nager (NAFD) and CHARGE syndromes.

Methods: The training set contained 1,592 ear photographs, corresponding to 550 patients.

Performance of Non-EPI DW MRI for Pediatric Cholesteatoma Follow-Up.

Objective: To evaluate the accuracy, sensitivity, and specificity of nonecho planar (non-EPI) diffusion-weighted (DW) magnetic resonance imaging (MRI) to detect residual cholesteatoma in children.

Study Design: Retrospective study.

Setting: Tertiary comprehensive hospital.

Early Magnetic Resonance Imaging to Diagnose Residual Cholesteatoma in Children and Benefit of Radiological Rereview.

Objective: Non-echo-planar diffusion-weighted (DW) magnetic resonance imaging (non-EPI MRI) is the appropriate sequence to detect residual cholesteatoma. In the child, MRI may be clinically useful to determine the timing of the second-look procedure. The aim of this paper was to retrospectively evaluate the performance of early MRI (before the 18th postoperative month) in detecting residual cholesteatoma in children after review by experienced specialized neuroradiologists.

French adaptation and validation of the Chronic Otitis Media Questionnaire-12 (COMQ-12).

Objective: Chronic otitis media (COM) can seriously impact quality of life (QOL). Disease-specific questionnaires are essential for an accurate assessment of this impact. There is no questionnaire available for French-speaking patients with COM.

Long-term outcomes of retrospective case series of middle ear implantation with Vibrant Soundbridge in children with congenital aural atresia.

Purpose: to assess audiological performance in quiet and noise, quality of life and side effects of Vibrant Soundbridge (VSB) in children with congenital aural atresia (CAA).

Methods: A retrospective study including consecutive patients with unilateral or bilateral CAA implanted with VSB from 2009 to 2020 in a tertiary referral centre.

Results: 18 patients with CAA and a present stapes were included (3 simultaneous bilateral VSB implants) and 21 ears: 17 VSB were attached to the short incus process, and four to the stapes.

French adaptation and validation of the Speech, Spatial and Qualities of Hearing scale for Parents (SSQ-P) and for Children (SSQ-Ch).

Objectives: Hearing loss can seriously impact children's daily life. This study aims to translate and validate the French versions of the hearing performance questionnaires, SSQ-Parent (for 5-18 years old children), and SSQ-Children (for 11-18 years old children).

Design: This controlled prospective trial was conducted between April and October 2020.

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.

DNA polymerase δ is one of the three main enzymes responsible for DNA replication. POLD1 heterozygous missense variants in the exonuclease domain result in a cancer predisposition phenotype. In contrast, heterozygous variants in POLD1 polymerase domain have more recently been shown to be the underlying basis of the distinct autosomal dominant multisystem lipodystrophy disorder, MDPL (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM # 615381), most commonly a recurrent in-frame deletion of serine at position 604, accounting for 18 of the 21 reported cases of this condition.

French adaptation and validation of parents' evaluation of aural/oral performance of children (PEACH) scale in children.

Objective: Hearing loss can seriously impact children's quality of life. Disease-specific questionnaires are required to optimise medical care. This study aims to translate, adapt and validate the French version of the PEACH score for the auditory performance of children.

Locoregional Control and Survival in Children, Adolescents, and Young Adults With Localized Head and Neck Alveolar Rhabdomyosarcoma-The French Experience.

Introduction: The head and neck (HN) are the most frequent sites of pediatric rhabdomyosarcoma (RMS). Alveolar RMS (ARMS) represents ~20% of all RMS cases and frequently spread to lymph nodes (LNs). The aim was to report locoregional control, event-free survival (EFS), and overall survival (OS), according to clinical and pathological features, LN staging, and treatment modalities.

How Imaging Can Help Surgeons Prepare for Second-Look Cholesteatoma Surgery in Children.

This research letter compares computed tomography and magnetic resonance imaging in the 1-year second-stage diagnosis of cholesteatoma.

Use of IOOG Classification to Categorize Middle Ear Surgery in Children: Evaluation After 5 Months of Use in 119 Consecutive Pediatric Middle Ear Surgeries.

Introduction: SAMEO-ATO classification is an international consensual tool published in 2018. In order to evaluate the ease of use and reliability of this classification in pediatric otologic surgery, a retrospective study was conducted in our tertiary referral center.

Method: We began to use IOOG classification in September 2018, after a 15-day testing period.