Heated humidified high-flow nasal cannula: a new conservative approach for neonatal nasal stenosis.

PURPOSE: The aim of this study is to evaluate the efficacy of heated humidified high flow nasal cannula (HFNC) therapy as a conservative treatment option for newborns suffering from nasal stenosis, a condition that often leads to respiratory distress and feeding difficulties. Given the increasing utilization of HFNC in various upper and lower respiratory tract indications, characterized by its flow-based mechanism and minimal mucosal damage, we seek to investigate its potential benefits in this specific patient population. METHODS: A retrospective chart review of newborns with congenital nasal stenosis treated with HFNC for respiratory distress or feeding difficulties in a pediatric tertiary center between 2014 and 2022. Data were collected for demographic characteristics, clinical presentation and ventilatory requirements, pre and post HFNC application. RESULTS: Six infants with nasal stenosis were included in the study cohort. Five were diagnosed with congenital pyriform aperture stenosis, three of whom had additional midnasal stenosis. One patient had nasal synechiae. Two patients had failed surgical treatment and all patients failed conservative treatment prior to HFNC treatment. Following HFNC use, improvement was noted in oxygen saturations, heart and respiratory rates, meal volumes and weight. None of the patients required any additional sinonasal surgical treatment. No complications were observed. CONCLUSIONS: In this case series, we present the first documented use of HFNC treatment for nasal stenosis, showing favorable results. Further studies with a larger cohort, wider range of conditions and extended follow-up periods are needed to establish the risks and benefits of HFNC for neonatal nasal stenosis.

Novel prognostic factors for successful treatment of pediatric chronic rhinosinusitis using the sinus and nasal quality of life survey (SN-5H).

INTRODUCTION: Chronic rhinosinusitis (CRS) is strongly associated with significant impairment of quality of life (QoL) in children. The SN-5 questionnaire is an important assessment tool for pediatric CRS. This study aimed to evaluate potential prognostic factors for treatment of pediatric CRS within the Hebrew version of the SN-5 questionnaire. METHODS: A prospective study in pediatric otolaryngology unit. Patients were treated either surgically or pharmacologically. Following informed consent, parents of pediatric CRS patients completed the translated and validated Hebrew version (SN-5H) prior to treatment and after three months. We analyzed the results of both treatment arms according to success (achieving minimal clinically important difference; MCID). RESULTS: 102 children aged 5-12 years and their caregivers participated (74 CRS patients and 28 controls without CRS). SN-5H items scores were significantly higher in CRS patients compared to controls (p < 0.001). Baseline activity scores were higher, while baseline emotional scores were lower in MCID( +) CRS patients, compared to MCID(-) CRS patients (p < 0.05). High emotional stress and low activity scores at baseline were associated with poorer odds to achieve MCID. CONCLUSIONS: The SN-5H questionnaire is invaluable tool for assessing pediatric CRS patients. Psychosocial aspects of CRS significantly affect QoL and should be addressed in the office pre-treatment. The SN-5H can aid in highlighting patients in need for further reassurance and psychosocial support to manage expectations, and to improve QoL.

Predictors of residual disease following pediatric thyroglossal duct cyst excision.

OBJECTIVES: Residual thyroglossal duct cyst (TGDC) following surgical excision is not uncommon. This study aimed to search for risk factors for residual disease that either required revision surgery or were resolved with only conservative treatment and follow up. METHODS: A retrospective study of consecutive children who underwent surgical excision for thyroglossal duct cysts between 2008 and 2021 at Schneider Children's Medical Center of Israel, a tertiary referral center in Israel. RESULTS: Out of 102 children, 54 (53 %) had an uneventful recovery, 32 (31 %) had post-operative complications which were managed without revision surgery, and 16 (16 %) underwent revision surgery. A comparison of the three groups showed that children who had early post-operative complications (up to one month) were more likely to respond to conservative treatment (57 %). In contrast children with late complications had a higher probability (59 %) of undergoing revision surgery. The presence of a pre-operative cutaneous fistula was significantly associated with revision surgery (p = 0.012). In addition, children with no prior history of neck infection were more likely to have an uneventful recovery (p = 0.005). CONCLUSIONS: TGDC disease has a wide range of clinical presentations both before and after surgery. A significant percentage of children with persistent post-operative symptoms may resolve without revision surgery. The presence of a pre-operative cutaneous fistula and late post-operative complications are the main risk factors for revision surgery.

Intranasal foreign bodies: A 10-year analysis of a large cohort, in a tertiary medical center.

BACKGROUND: Nasal foreign bodies (NFB) are commonly seen in pediatric patients seeking medical attention in the emergency department (ED). We aim to describe the occurrence, clinical presentation and management, of these cases, and to assess various risk factors for complications. METHODS: A retrospective analysis of a computerized patient directory of 562 children admitted to the emergency department during a 10-year period, with NFB, in a tertiary pediatric hospital. RESULTS: Upon admittance, most of the children (82%) were asymptomatic. Among the symptomatic children (18%), the primary symptoms were nasal discharge (10%), epistaxis (8%) and pain (4%). Younger children (under 4 years) were more likely to insert organic materials, compared to older children. Younger children were also admitted sooner to the emergency department and were more likely to present with nasal discharge. The overall complication rate was 5%. None of the children had aspirated the foreign body. Complications included infection (2%), necrosis (0.7%), septal perforation (0.5%), deep mucosal laceration (1.5%) and loss of foreign body (1.9%). Significantly higher rates of symptoms and complications were associated with button batteries. Increased risk for complications were observed according to type of foreign body, multiple attempts to remove it, posterior insertion and left-side insertion. CONCLUSIONS: Nasal foreign bodies in children are common. Mostly, patients are asymptomatic, therefore a high index of suspicion is required, for quick diagnosis and safe removal, without complications.

Intraoperative Ultrasonographic Assessment of Vocal Cord motion under sedation, following paediatric thyroidectomy in the Era of COVID-19: A double-blinded preliminary study.

INTRODUCTION: Unilateral vocal cord paralysis (UVCP) is a known complication of thyroid surgery, due to iatrogenic recurrent laryngeal nerve injury, with reported rates of 2%-5% in children. The gold standard for assessing vocal cord function in flexible nasendoscopy (FNE) examination, which is considered high-risk for contraction of the COVID-19 virus. Intraoperative ultrasonographic assessment (IUA) of vocal cord function is a non-invasive and relatively simple procedure performed in a supine position, performed during spontaneous breathing, following reversed anaesthesia, while the patient is still sedated. OBJECTIVES: To evaluate the validity of IUA modality in children undergoing thyroidectomy and to compare it to the standard FNE. DESIGN: A prospective double-blind study covering 24 months (March 2019-March 2021). Twenty thyroid lobectomies were performed, during 15 surgeries. Vocal cord function was assessed three times: Pre-operatively by FNE, intraoperative (IUA) following extubation, and a second FNE on the first post-operative day. SETTINGS: A tertiary paediatric hospital. RESULTS: The overall accuracy of IUA results in our study was 92%. IUA sensitivity, specificity, positive and negative predictive values were 100%, 89%, 33% and 100%, respectively. Patient's age demonstrated borderline significance (p = .08). The resident's experience was associated with a better correlation between IUA and FNE results (p < .05). CONCLUSIONS: IUA of vocal cord motion has a high accuracy rate for detection of iatrogenic vocal cord paralysis, similar to FNE. It is easily learned by residents, well-tolerated by children, and it provides a safe and valid alternative modality while ensuring the safety of the medical staff in treating patients, especially in times of COVID-19 pandemic.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a wide range of deafness-associated variants and enabling clinical characterization of the associated phenotypes. Our goal was to identify the genetic causes of inherited hearing loss in this population, and to determine relationships among genotype, phenotype, and ethnicity. Genomic DNA samples from informative relatives of 88 multiplex families, all of self-identified Jewish ancestry, with either non-syndromic or syndromic hearing loss, were sequenced for known and candidate deafness genes using the HEar-Seq gene panel. The genetic causes of hearing loss were identified for 60% of the families. One gene was encountered for the first time in human hearing loss: ATOH1 (Atonal), a basic helix-loop-helix transcription factor responsible for autosomal dominant progressive hearing loss in a five-generation family. Our results show that genomic sequencing with a gene panel dedicated to hearing loss is effective for genetic diagnoses in a diverse population. Comprehensive sequencing enables well-informed genetic counseling and clinical management by medical geneticists, otolaryngologists, audiologists, and speech therapists and can be integrated into newborn screening for deafness.

Unilateral Choanal Atresia Presenting With Congenital Respiratory Distress and Recurrent Cyanotic Episodes.

Congenital unilateral choanal atresia (CA) is not considered an emergent condition and should not cause respiratory distress in the newborn. Therefore, surgical repair of unilateral CA is usually delayed. This description of a newborn with congenital unilateral CA that caused significant respiratory distress, recurrent cyanotic episodes, and severe feeding difficulties highlights an exception to that rule.

Predictors for surgical intervention in orbital complications of pediatric rhinosinusitis.

OBJECTIVES: Orbital complications are the most common complication of acute rhinosinusitis, especially among pediatric patients. While most cases are treated with antibiotics alone, severe presentation may demand surgical intervention. Our goal was to determine which factors predict the need for surgery and to investigate the role of computerized tomography in the decision process. METHODS: A retrospective review of all children hospitalized between 2001-2018 with orbital complications of acute rhinosinusitis in a university-affiliated children's hospital. RESULTS: A total of 156 children were included. Mean age was 7.9 years (1-18 years). Twenty-three children (14.7%) were surgically treated, and the rest were conservatively treated. High fever, ophthalmoplegia and diplopia in association with minimal or no response to conservative treatment were predictive for surgical intervention, as well as higher inflammatory indices. Eighty-nine children (57%) underwent imaging during hospitalization. Presence of a subperiosteal abscess, as well as its size and its location were not found to be predictors for surgery. CONCLUSION: Clinical and laboratory findings in association with minimal or no response to conservative treatment predict the need for surgical intervention in cases of orbital complications of acute rhinosinusitis. As Computerized Tomography scans can have long-term implications in the pediatric population, caution and patience should be practiced when deciding on the timing of imaging in this population. Thus, close clinical and laboratory monitoring should lead the decision-making process in these cases and imaging should be reserved for when the decision for surgery has been made.

Orbital Cellulitis in a Pediatric Population - Experience From a Tertiary Center.

OBJECTIVE: To describe our experience in treating children afflicted with orbital cellulitis. METHODS: A retrospective analysis of hospital records of children afflicted with orbital cellulitis was conducted between 2005-2018. Clinical, laboratory and radiology characteristics as well as management, microbiological data, and outcomes were collected. RESULTS: Of the 94 patients, painful restriction of ocular motility was observed in 37.2% and proptosis in 34%, whereas, only 18% of the children presented with both classical signs. Children aged older than 9 years presented with markedly elevated inflammatory markers i.e., leukocytosis and C-reactive protein (CRP). Only a minority (12, 12.4%) required functional endoscopic sinus surgery. CONCLUSION: Our data support the general approach that orbital cellulitis should be initially managed conservatively with close monitoring; since, only a minority of patients require surgical intervention.

Changing Trends in the Survival of Immunosuppressed Children with Invasive Fungal Rhinosinusitis.

BACKGROUND: Acute invasive fungal rhinosinusitis has been associated with high mortality rates. OBJECTIVE: We aimed to explore the contribution of novel detection and treatment methods on the outcome of immunosuppressed children with acute invasive fungal rhinosinusitis. METHODS: The records of all children with a hematologic or oncologic disease who developed acute invasive fungal rhinosinusitis between 2005-2020 were reviewed. RESULTS: Thirty-four patients were included. Aspergillosis and mucormycosis were diagnosed in 20 patients (59%) and 12 patients (35%), respectively. Panfungal polymerase chain reaction (PCR) was associated with a change of treatment in 36% of patients. A more aggressive surgical approach as well as treatment with liposomal amphotericin B and novel antifungals were adopted in recent years. Overall, 26% of patients died of disease, however no disease-specific death occurred since 2012. Diagnosis using panfungal PCR (p = .04) and treatment with novel antifungal medications (p = .017) were significantly associated with disease-specific survival. CONCLUSION: Enhanced fungal detection using panfungal PCR and treatment with novel antifungal agents, combined with rapid diagnosis and treatment, aggressive surgical approach and better control over the underlying oncological disease, may significantly improve the outcome of immunosuppressed children with acute invasive fungal rhinosinusitis.

Surgical Site Reassessment: An Important Step in Improving Clinical Outcomes Following Pediatric Endoscopic Dacryocystorhinostomy.

PURPOSE: To report the authors' experience with endoscopic unpowered dacryocystorhinostomy in the treatment of pediatric nasolacrimal duct obstruction, and to evaluate whether surgical site reassessment (after the appropriate healing period) affects clinical outcomes. METHODS: This retrospective study included 47 children aged between 1.5 and 17.0 years (mean age: 6.9 years) who underwent endoscopic unpowered dacryocystorhinostomy between 2014 and 2019 at one tertiary care hospital. Twenty-six patients required unilateral and 21 required bilateral endoscopic dacryocystorhinostomy. The main outcome measures were duct patency on lacrimal irrigation ("anatomical success") and resolution of symptoms ("clinical success") over 6 months of postoperative follow-up. RESULTS: Sixty-eight dacryocystorhinostomy procedures were performed. Surgical site reassessment during tube removal was performed in 52 of 68 cases. Five cases (9.6%) required treatment of local pathologies, only after which was symptomatic relief achieved. Overall anatomical success was observed in 49 (94.2%) of the 52 cases in which nasal endoscopy was performed, including the 5 cases treated during reevaluation. Clinical success was observed in 63 (92.6%) cases. CONCLUSIONS: Pediatric endoscopic dacryocystorhinostomy is an effective surgical procedure used to correct nasolacrimal system obstruction resistant to conservative measures. The unpowered endoscopic dacryocystorhinostomy technique is practical and safe in the pediatric population. Surgical site reassessment allows treating local pathologies threatening ostium patency and increases clinical success rates. [J Pediatr Ophthalmol Strabismus. 2021;58(3):168-173.].

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.

OBJECTIVES: To better distinguish NOG-related-symphalangism spectrum disorder (NOG-SSD) from chromosomal 17q22 microdeletion syndromes and to inform surgical considerations in stapes surgery for patients with NOG-SSD. BACKGROUND: Mutations in NOG cause a variety of skeletal syndromes that often include conductive hearing loss. Several microdeletions of chromosome 17q22 lead to severe syndromes with clinical characteristics that overlap NOG-SSD. Isolated deletion of NOG has not been described, and therefore the contribution of NOG deletion in these syndromes is unknown. METHODS: Two families with autosomal dominant NOG-SSD exhibited stapes ankylosis, facial dysmorphisms, and skeletal and joint anomalies. In each family, NOG was evaluated by genomic sequencing and candidate mutations confirmed as damaging by in vitro assays. Temporal bone histology of a patient with NOG-SSD was compared with temporal bones of 40 patients diagnosed with otosclerosis. RESULTS: Family 1 harbors a 555 kb chromosomal deletion encompassing only NOG and ANKFN1. Family 2 harbors a missense mutation in NOG leading to absence of noggin protein. The incus-footplate distance of the temporal bone was significantly longer in a patient with NOG-SSD than in patients with otosclerosis. CONCLUSION: The chromosomal microdeletion of family 1 led to a phenotype comparable to that due to a NOG point mutation and much milder than the phenotypes due to other chromosome 17q22 microdeletions. Severe clinical findings in other microdeletion cases are likely due to deletion of genes other than NOG. Based on temporal bone findings, we recommend that surgeons obtain longer stapes prostheses before stapes surgery in individuals with NOG-SSD stapes ankylosis.

Clinical and imaging evaluation of Congenital Midnasal Stenosis.

OBJECTIVES: To illustrate the clinical and radiological presentation of a rare etiology of nasal obstruction in neonates, midnasal stenosis (MNS), including a comparison of nasal dimensions with those of normal infants. METHODS: We retrospectively reviewed medical charts and computerized tomography (CT) imaging of neonates with nasal obstruction diagnosed as stenosis in the midnasal area in a tertiary pediatric medical center. MNS was defined clinically by inability to visualize the middle turbinate with an endoscope despite the absence of stenosis of the anterior aperture or any gross septal deviation. CT measurements of the midnasal width were taken by an experienced neuroradiologist. We compared widths between the bony inferior turbinate to the bony septum in the narrowest area of symptomatic patients, to widths in a control group of asymptomatic children. RESULTS: Nine neonates from birth to three months old presenting with nasal obstruction, severe stertor, and blocked nasal passage at the midnasal level in endoscopic examination, were diagnosed with MNS. 6/9 had CT scans. Four had isolated unilateral stenosis, two unilateral MNS and contralateral choanal atresia, and three bilateral MNS. All patients were managed conservatively, initially with nasal saline irrigation and local steroids and topical antibiotics; Median time to resolution of symptoms was 14 days. When comparing the dimensions at the midnasal narrowest area of the stenotic group with a control group of 139 healthy children, the median bony width was 1.7 mm vs. 3.2 mm, respectively (p < 0.00001). Average dimensions according to age groups until the age of 12 months are given. CONCLUSION: In neonates with nasal obstruction, when choanal atresia and pyriform aperture stenosis are excluded, stenosis of the midnasal area should be considered. Most of these neonates can be managed conservatively. LEVEL OF EVIDENCE: 4.

Recurrent periorbital cellulitis associated with rhinosinusitis in children: Characteristics, course of disease, and management paradigm.

BACKGROUND: Recurrent periorbital cellulitis (RPOC) associated with rhinosinusitis is rarely noted and scarcely discussed in the literature. The aim of our study was to analyze the characteristics and disease course of a group of pediatric patients with RPOC. METHODS: The medical records of all pediatric patients with a diagnosis of RPOC treated in a tertiary children's hospital were retrieved. Included were patients with a history of two or more episode of RPOC. RESULTS: A total of 14 children were included. Mean follow up was 3 years (SD ±â€¯2.5). Median age of first POC episode was 12 months (range 5 months-12 years). Overall, 75 events of RPOCs were documented. A median of 3 events per patient was noted (range 2-16). Preseptal cellulitis was diagnosed in all but five patients, in whom orbital cellulitis or subperiosteal abscess were identified, one following failure of conservative treatment, and the remaining at first presentation or recurrence. Rhinorrhea was present in only five patients (35%). The majority of patients were treated with intra-venous antibiotics. Imaging studies were performed in all patients revealing ethmoidal sinusitis in all patients, with lamina papyracea dehiscence in two patients. Immune deficiency was diagnosed in one patient. Endoscopic sinus surgery was performed in seven patients, in four as preventive procedure and in three during an acute phase. Post-operative recurrent disease was noted in two patients that were operated during the acute phase. CONCLUSIONS: RPOC is a rare entity. Rhinosinusitis should be suspected in events of recurrent preseptal cellulitis even in the absence of nasal symptoms. CT scan is diagnostic for sinus origin of disease and possible anatomical abnormalities. In the majority of patients no evident etiology was identified. Elective Surgery or prophylactic antibiotic treatment should be strongly considered in this subgroup of patients as it seems beneficial.

The clinical behavior of isolated sphenoid sinusitis.

OBJECTIVE: We sought to study the clinical behavior and treatment outcome of isolated sphenoid sinusitis (ISS). STUDY DESIGN AND SETTING: We conducted a retrospective study of patients diagnosed with ISS in a tertiary medical center over 20 years. RESULTS: Of 72 patients with ISS, 79 percent had acute symptoms, 15 percent had chronic symptoms, and 6 percent had incidental radiological findings. Fifteen percent were children. Most patients were diagnosed between January and April (P < 0.01), and increasing incidence was noted over the years (P < 0.001). Headache was the most common presenting symptom (85%). Chronic patients complained also of nasal symptoms (82%). Six patients had a major complication of sinusitis (none of them were children), and two patients died. Immunocompromised patients had more major complications (P

Acute Rhinosinusitis in Immunosuppressed Children: Diagnostic and Therapeutic Management.

BACKGROUND: Immunosuppressive therapy places pediatric patients at risk of developing life-threatening sinonasal infections. Diagnosis and treatment are challenging owing to nonspecific signs and symptoms. The aim of this study was to present our department's experience with the surgical management of acute rhinosinusitis in immunosuppressed children. METHODS: The records of all children with a hematologic or oncologic disease who underwent endoscopic sinus surgery (ESS) for acute rhinosinusitis from January 2005 to May 2014 were reviewed. Data were retrospectively collected on demographics, clinical and imaging characteristics, microbiology, pathology, treatment and outcome. RESULTS: Thirty-four-immunosuppressed children underwent ESS for acute rhinosinusitis. Most patients had a fungal infection. Nineteen patients died at the end of follow-up; 10 deaths were infection-related. Facial swelling was the only symptom that correlated with death of infection. Relapse of the underlying disease, bone marrow transplantation, and long duration of neutropenia correlated with infection-related mortality. Fungal infection, and specifically Aspergillus, correlated with death from infection. CONCLUSIONS: ESS is a safe and efficient procedure for diagnosing and treating immunosuppressed pediatric patients with acute rhinosinusitis. Early detection and aggressive medical and surgical treatment, with control of underlying risk factors, are crucial to improve outcome.

Effects of tracheostomy on well-being and body-image perceptions.

OBJECTIVE: Quality of life after tracheostomy was addressed by measuring its impact on well being and body image perceptions. STUDY DESIGN AND SETTING: A controlled study in a laryngotracheal clinic of a tertiary referral center. Three groups were studied: 24 cannulated, 19 decannulated, and 20 noncannulated patients. They filled up 3 conventional questionnaires. RESULTS: (1) Satisfaction-with-life scale: reduced scores were detected between cannulated and noncannulated patients. (2) Personality traits: neuroticism and extroversion: no differences were noted. (3) Body cathexis scale: both cannulated and decannulated patients scored less than noncannulated. In tracheostomy-specific issues, decannulated patients scored better than cannulated patients. CONCLUSIONS: Reduced scores after tracheostomy indicate an overall diminished quality of life. These changes correlate with personality traits. Decannulated patients exhibited only slight improvement indicating an incomplete psychosocial recovery. SIGNIFICANCE: This is the first report on tracheostomy related quality of life in noncancer patients conducted with specific psychological questionnaires.

Treatment of lymphatic malformations: a more conservative approach.

BACKGROUND/PURPOSE: Lymphatic malformation is a benign disfiguring lesion of the neck and face in children. This study investigated the application and outcome of different modes of treatment. METHODS: The medical files of all children with lymphatic malformation of the head and neck attending a tertiary medical center in 1999 to 2010 were reviewed. Findings were compared by treatment: surgery, OK-432 sclerotherapy, or observation. RESULTS: The study group included 46 patients, most (65%) with macrocystic disease. Twenty were treated by OK-432 sclerotherapy, and 15, by surgery; 11 (with minor disfigurement) were observed only. Mean follow-up time was 2.4 years. Complete removal or complete response to treatment was achieved in 67% of the surgery group and 45% of the OK-432 group; fair results (>50% reduction in swelling) were achieved in 20% and 50%, respectively. Sclerotherapy failure did not interfere with subsequent surgery. Complete spontaneous regression occurred in 5 patients under observation only. CONCLUSIONS: OK-432 sclerotherapy is associated with good aesthetic results in children with lymphatic malformation. Observation alone is sometimes sufficient. Surgery should be reserved for cases requiring a histologic diagnosis, microcystic disease, patients with an urgent clinical problem (eg, airway obstruction), and sclerotherapy failures.

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.

OBJECTIVES: To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. DESIGN: Validation of the mutation by its exclusion in more than 300 individuals with normal hearing. SETTING: A laboratory of genetics of hearing loss research, clinical genetics laboratories, an otolaryngology department at Tel Aviv University, and medical centers in Israel. PATIENTS: A patient with nonsyndromic hearing loss and enlarged vestibular aqueduct, 203 deaf probands, and 310 controls with normal hearing. INTERVENTIONS: Sequencing the SLC26A4 gene in the patient with nonsyndromic hearing loss and enlarged vestibular aqueduct. Transfection of yellow fluorescent protein (YFP) constructs into mammalian COS7 cells. Designing a computational model of the human SLC26A4 protein. MAIN OUTCOME MEASURE: Detection of a novel c.1458_1459insT SLC26A4 mutation. RESULTS: A computational model of the human pendrin protein suggests that the novel c.1458_1459insT mutation leads to a prematurely truncated protein, p.Ile487TyrfsX39. Mammalian COS7 cells transfected with the YFP-1458_1459insT construct showed mislocalization of the mutant protein. CONCLUSIONS: A novel SLC26A4 mutation was detected in Israel. Because current estimates demonstrate that SLC26A4 mutations are involved in up to 4% of nonsyndromic deafness, our findings emphasize the importance of adding a molecular test for the SLC26A4 gene in the diagnosis of deafness, particularly when bone abnormalities are involved, to the list of genes screened in Israel and elsewhere in the world.