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Otorhinolaryngologic Diseases - Top 30 Publications

An unusual case of oropharyngeal chordoma: A case report and literature review.

Chordomas are rare malignant neoplasms derived from incomplete regression of notochordal tissue along the cranio-coccygeal axis. Chordomas that develop in an atypical position are called ectopic chordomas, such as oropharyngeal chordomas (OCs). OCs are exceedingly rare; only 11 cases have been reported to date. Preoperative diagnosis is challenging, and an accurate diagnosis thus is based on postoperative pathologic examination findings and immunohistochemistry. Although surgical therapy and radiotherapy is performed in some patients, the 5-year survival rate is low. Increasingly more studies of chordomas have been based on molecular biology to increase the survival rate, and targeted therapy could be a new therapy in the future.

Closure of fistula of the hard palate with two layers of mucoperiosteum.

Oronasal fistula represents a functional problem, as it may result in nasal regurgitation of food and fluids and it also leads to hypernasal speech. Many methods have been proposed for its closure with a high recurrence rate. The aim of this study was to assess the efficacy of closure of hard palate fistula by two layers of mucoperiosteal flaps.

Evaluation and remediation of central auditory processing disorders in children with autism spectrum disorders.

This study was carried out to assess various skills of central auditory processing (CAP) in children with autism spectrum disorders (ASD) and to evaluate the efficacy of auditory training in these children.

Barriers to pediatric cochlear implantation: A parental survey.

This study aims to (1) determine barriers in the pediatric cochlear implantation process specific to publicly insured patients, wherein delayed implantation has been reported, and (2) compare the perceived barriers between publicly and privately insured patients.

Pediatric laryngeal cleft repair and dysphagia.

To describe changes in diet and swallow function in patients with a laryngeal cleft after surgical repair of the laryngeal cleft.

Health-related quality of life in children with dysphonia and validation of the French Pediatric Voice Handicap Index.

voice disorders are common in the pediatric population and can negatively affect children's quality of life. The pediatric voice handicap Index (pVHI) is a valid instrument to assess parental perception of their children voice but it is not translated into French language. The aim of the present study was to adapt a French version of the pVHI and to evaluate its psychometric properties including construct validity, reliability, and some aspects of external validity.

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold.

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features.

Adaptation and validation of Mandarin Chinese version of the pediatric Voice Handicap Index (pVHI).

The aim of this study was to adapt and validate the English version of pediatric voice handicap index (pVHI) into Mandarin Chinese.
 METHODS: A cross-sectional study was performed from May 2016 to April 2017. A total of 367 parents participated in this study, and 338 parents completed the translated questionnaire without missing data, including 213 parents of children with voice disorders (patients group), and 125 parents of children without voice disorders (control group). The internal consistency, test-retest reliability, contents validity, construct validity, clinical validity, and cutoff point were calculated.

Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.

The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.

Bilateral cochlear implantation or bimodal listening in the paediatric population: Retrospective analysis of decisive criteria.

In children with bilateral severe to profound hearing loss, bilateral hearing can be achieved by either bimodal stimulation (CIHA) or bilateral cochlear implantation (BICI). The aim of this study was to analyse the audiologic test protocol that is currently applied to make decisions regarding the bilateral hearing modality in the paediatric population.

Hearing loss in children with primary ciliary dyskinesia.

To evaluate the type and severity of hearing impairment in pediatric patients with primary ciliary dyskinesia (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors.

A novel technique for unilateral supraglottoplasty.

Traditional supraglottoplasty for pediatric laryngomalacia is most commonly conducted with either CO2 laser or cold steel instruments. While the procedure enjoys high success rates, serious complications such as excessive bleeding, supraglottic stenosis and aspiration can occur. Unilateral coblation supraglottoplasty may reduce this risk, but data on respiratory and swallowing outcomes are lacking. This study reports our experiences with unilateral coblation supraglottoplasty.

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.

Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder.

Choanal Atresia and Craniosynostosis: Development and Disease.

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.

Haematological factors in the management of adult epistaxis: systematic review.

The management of epistaxis requires an understanding of haematological factors that may complicate its treatment. This systematic review includes six distinct reviews examining the evidence supporting epistaxis-specific management strategies relating to warfarin, direct oral anticoagulants, heparin, antiplatelet agents, tranexamic acid and transfusion.

Surgical and interventional radiological management of adult epistaxis: systematic review.

There is variation regarding the use of surgery and interventional radiological techniques in the management of epistaxis. This review evaluates the effectiveness of surgical artery ligation compared to direct treatments (nasal packing, cautery), and that of embolisation compared to direct treatments and surgery.

Intranasal packs and haemostatic agents for the management of adult epistaxis: systematic review.

The mainstay of management of epistaxis refractory to first aid and cautery is intranasal packing. This review aimed to identify evidence surrounding nasal pack use.

Initial assessment in the management of adult epistaxis: systematic review.

The initial assessment of epistaxis patients commonly includes: first aid measures, observations, focused history taking, and clinical examinations and investigations. This systematic review aimed to identify evidence that informs how the initial assessment of these patients should be conducted.

Epistaxis 2016: national audit of management.

Epistaxis is a common condition that can be associated with significant morbidity, and it places a considerable burden on our healthcare system. This national audit of management sought to assess current practice against newly created consensus recommendations and to expand our current evidence base.

Intranasal cautery for the management of adult epistaxis: systematic review.

Cauterisation techniques are commonly used and widely accepted for the management of epistaxis. This review assesses which methods of intranasal cautery should be endorsed as optimum treatment on the basis of benefits, risks, patient tolerance and economic assessment.

The British Rhinological Society multidisciplinary consensus recommendations on the hospital management of epistaxis.

Epistaxis is a common ENT emergency in the UK; however, despite the high incidence, there are currently no nationally accepted guidelines for its management. This paper seeks to recommend evidence-based best practice for the hospital management of epistaxis in adults.

High-frequency conductive hearing loss as a diagnostic test for incomplete ossicular discontinuity in non-cholesteatomatous chronic suppurative otitis media.

Chronic suppurative otitis media, with or without cholesteatoma, may lead to erosion of the ossicles and discontinuity of the ossicular chain. In incomplete ossicular discontinuity (IOD), partial erosion of the ossicles occurs, but some sound transmission is noted throughout the ossicular chain. High-frequency conductive hearing loss (HfCHL) has been considered a hallmark of incomplete ossicular discontinuity. This study aims to evaluate the use of HfCHL as a preoperative predictor of IOD in patients with non-cholesteatomatous chronic suppurative otitis media. The HfCHL test was defined as the preoperative air-bone gap (ABG) at 4 kHz minus the average of the ABG at 0.25 and 0.5 kHz. The test was applied in 328 patients before surgery and compared to intraoperative findings as the gold standard. At surgery, 201 (61.3%) patients had an intact ossicular chain, 44 (13.4%) had a complete ossicular discontinuity, and 83 (25.3%) exhibited an IOD. The best cutoff level was calculated as 10 dB. The HfCHL test to diagnose IOD had a sensitivity of 83% and a specificity of 92% with a post-test probability of 78% and a likelihood ratio of 10.2. We concluded that the HfCHL test is highly effective in predicting IOD in patients with non-cholesteatomatous chronic suppurative otitis media and that it should be used routinely as a screening test prior to surgery.

Prevalence of paediatric chronic suppurative otitis media and hearing impairment in rural Malawi: A cross-sectional survey.

To estimate the prevalence of World Health Organization-defined chronic suppurative otitis media (CSOM) and mild hearing impairment in a population representative sample of school-entry age children in rural Malawi. A secondary objective was to explore factors associated with CSOM in this population.

Hearing Loss in Adults.

Association of Broad- vs Narrow-Spectrum Antibiotics With Treatment Failure, Adverse Events, and Quality of Life in Children With Acute Respiratory Tract Infections.

Acute respiratory tract infections account for the majority of antibiotic exposure in children, and broad-spectrum antibiotic prescribing for acute respiratory tract infections is increasing. It is not clear whether broad-spectrum treatment is associated with improved outcomes compared with narrow-spectrum treatment.

Diagnosis and First-Line Treatment of Chronic Sinusitis.

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.

Probiotic capsules and xylitol chewing gum to manage symptoms of pharyngitis: a randomized controlled factorial trial.

Reducing the use of antibiotics for upper respiratory tract infections is needed to limit the global threat of antibiotic resistance. We estimated the effectiveness of probiotics and xylitol for the management of pharyngitis.

A family-based genome-wide association study of chronic rhinosinusitis with nasal polyps implicates several genes in the disease pathogenesis.

The pathogenesis of chronic rhinosinusitis with nasal polyps is largely unknown. Previous studies have given valuable information about genetic variants associated with this disease but much is still unexplained. Our goal was to identify genetic markers and genes associated with susceptibility to chronic rhinosinusitis with nasal polyps using a family-based genome-wide association study.