Analysis of tinnitus severity and associated risk factors in patients with chronic otitis media: data from the multinational collaborative Chronic Otitis Media Questionnaire-12 study.

BACKGROUND: Subjective tinnitus is a common symptom, and there is often an underlying otological cause. This study investigated the degree of tinnitus-related annoyance in patients with chronic otitis media and analysed whether associations with tinnitus severity exist. METHOD: The multinational collaborative Chronic Otitis Media Questionnaire-12 study collected prospective data on 478 adult patients suffering from chronic otitis media across 9 otology referral centres in 8 countries. Based on this dataset, we investigated tinnitus severity using participant responses to item 7 of a native version of the Chronic Otitis Media Questionnaire-12. RESULTS: With respect to tinnitus severity, 23.8 per cent, 17.4 per cent, 15.5 per cent, and 43.4 per cent of participants reported no, minor, moderate, and major inconvenience or greater, respectively. The absence of ear discharge, absence of cholesteatoma, and poorer disease-specific health-related quality-of-life were associated with increased tinnitus severity in patients with chronic otitis media, whereas age, hearing disability and geographical region showed no association. CONCLUSION: This analysis provided novel insight into potential risk factors for tinnitus in patients with chronic otitis media.

Nasal cavity shape in unilateral choanal atresia and the role of fetal ventilation in facial growth.

OBJECTIVE: The respiratory movements of fetal amniotic fluid areconsidered by certains cleft surgery teams to contribute to the growth of the nasal cavities (NC). To assess this functional hypothesis, we considered a group of patients with unilateral choanal atresia (CA) as a model of unilateral absence of amniotic fluid flux in the NC, and compared their NCs shape to age-matched controls. MATERIAL AND METHODS: Three-dimensional reconstructions of NC were performed using Avizo 9.7 (Thermo Fisher Scientific, MA, USA), based on CT-scans of 32 patients with unilateral CA and 96 age- and gender-matched controls. Landmarks were placed on anatomical structures of NC. Procrustes superimpositions and principal component analysis were performed. Anatomically relevant Euclidean distances were computed using the coordinates of selected landmarks - maxillary length, piriform orifice width, choanal width - and tested using multivariate analysis. Growth rates between patients and controls for these distances were screened for correlations. RESULTS: The atretic NC was significantly deformed when compared to the control cases: Procrustes distance was 0.28 (P<0.0001). The maxillary length and width of the atretic choana were significantly decreased compared to controls (-2.95mm and -1.35mm respectively, P<0.001). There were no differences in growth rates between CA and controls, except for the choanal width on the atretic side. CONCLUSION: NCs in CA were significantly different from controls. More precisely, the maxillary length was significantly reduced in the CA group. There was no other major shape difference between the NC in CA and controls. NC seems to develop despite abnormal fetal ventilation.

Lateral endoscopic parathyroidectomy in children.

Endoscopic thyroid and parathyroid surgery was first described by Gagner in 1996, and Henry subsequently proposed a lateral endoscopic approach in 1999. Technical progress in the fields of optics, endoscopy, digital imaging and laparoscopy has gradually enhanced the feasibility and clinical utility of this technique for the treatment of benign and malignant lesions. To date, published paediatric cases have only concerned thyroid surgery. In the light of two clinical cases, this article describes our lateral endoscopic approach applied to paediatric parathyroid surgery.

Unusual presentation of a first Branchial cleft cyst associated with an abnormal bony canal -a case report.

BACKGROUND: First branchial cleft anomalies are rare, accounting for only 10% of all branchial cleft anomalies. We report an even more rare and unique case of a branchial cleft cyst with features of both first and second arch derivatives. CASE PRESENTATION: A 6-year-old boy presented to us with a left conductive hearing loss associated with pre-tympanic keratin debris and an ipsilateral painful cervical mass. He had a past medical history of left ear surgery for presumed cholesteatoma 2 years prior and left neck abscess drainage 6 months prior. CT and MRI revealed a lesion originating in the external auditory canal and extending cervically through a bony canal located medial to the facial nerve and terminating as a parapharyngeal cyst. The complete removal was accomplished in one surgical stage consisting of three distinct steps: robotic assisted transoral resection of the pharyngeal cyst, an endaural approach and a parotidectomy approach. CONCLUSION: We believe that our detailed description of this rare first branchial cleft cyst with pharyngeal extension, possibly a hybrid case between a first and second branchial cyst, can serve as a valuable tool to Otolaryngologists - Head and Neck Surgeons who come across a similar unusual presentations.

Unusual outer ear swelling: Childhood auricular rhabdomyosarcoma.

INTRODUCTION: Rhabdomyosarcoma (RMS) is the most frequent soft-tissue sarcoma in children and makes up 5% of all pediatric malignant tumors. The main head and neck locations are the base of the skull, nasopharynx, nasal cavity and orbit. An outer ear location is considered extremely rare. We present 3 cases of children, aged 6 to 14 years, presenting with auricular RMS. CASE REPORTS: The first child, aged 6, was managed by 4 chemotherapy cycles followed by surgical resection of the tumor bed, completed by 5 further cycles of chemotherapy. The second, aged 14, was managed by 4 chemotherapy cycles followed by external radiation therapy of the tumor bed and lymph node areas, completed by 5 further cycles of chemotherapy. The third, aged 13, was managed by 4 chemotherapy cycles followed by surgery, completed by 5 further cycles of chemotherapy. DISCUSSION: In these 3 patients, the treatment program achieved complete disease control. Prognosis was good, thanks to good surgical access. Diagnosis should be considered in case of unusual progressive swelling in the outer ear.

Characteristics and analysis of scientific articles submitted to the European Annals of Otorhinolaryngology, Head and Neck Diseases.

OBJECTIVES: To evaluate characteristics, suggested modifications and reasons for rejection in scientific articles submitted for publication in the European Annals of Otorhinolaryngology, Head and Neck Diseases. MATERIALS AND METHODS: A prospective study analyzed the flaws noted by reviewers in 52 scientific articles submitted to the European Annals of Otorhinolaryngology, Head and Neck Diseases between August 31, 2014 and February 28, 2015. RESULTS: Fifteen flaws concerning content and 7 concerning form were identified. In more than 25% of submissions, major flaws were noted: purely descriptive paper; lack of contribution to existing state of knowledge; failure to define a clear study objective and/or analyze the impact of major variables; poorly structured Materials and methods section, lacking description of study population, objective and/or variables; lack of or inappropriate statistical analysis; Introduction verbose and/or misrepresenting the literature; excessively heterogeneous and/or poorly described study population; imprecise discussion, straying from the point, overstating the significance of results and/or introducing new results not mentioned in the Results section; description of the study population placed in the Results section instead of under Materials and methods; serious mistakes of syntax, spelling and/or tense; and failure to follow the Instructions to Authors. After review, 21.1% of articles were published, 65.3% rejected and 13.4% non-resubmitted within 3 months of review. On univariate analysis, the only variable increasing the percentage of articles accepted was the topic not being devoted to head and neck surgery (P=0.03). CONCLUSION: These results document the excessive flaw rate still to be found in manuscripts and demonstrate the continuing need for authors to master and implement the rules of scientific medical writing.

Magnetic resonance imaging at one year for detection of postoperative residual cholesteatoma in children: Is it too early?

OBJECTIVE: To compare the residual cholesteatoma detection accuracy of diffusion-weighted (DW) and T1 delayed sequences for magnetic resonance at one year postoperative with second-look surgery in pediatric patients who have undergone primary middle ear surgery for cholesteatoma. METHODS: This was a prospective monocentric consecutive study conducted in a tertiary academic referral center. Children were referred for MR imaging (MRI) one year after surgery. A 1.5T MRI was utilized, using nonecho-planar DW images and delayed gadolinium-enhanced T1-weighted images. Accuracy of magnetic resonance imaging was assessed by two radiologists before surgery. Interobserver and intraobserver agreements were assessed using the κ test. Magnetic resonance imaging data were compared with surgery, which was considered as the gold standard. RESULTS: Twenty-four consecutive unselected pediatric patients were included. Sensitivity, specificity, positive predictive value, and negative predictive value for the first observer were of 40%, 86%, 67%, and 67%, respectively, and those for the second observer were 30%, 86%, 60%, and 63%, respectively. The only two cholesteatoma with a size superior to 3mm were diagnosed before surgery, but the majority of small cholesteatoma were not detected. CONCLUSIONS: MRI is a key examen to diagnosed the residual cholesteatoma but is limited by the size of the lesion under 3mm. Delaying the realization of MRI during follow-up could increase sensitivity, thus avoiding misdiagnosis as well as unnecessary second look surgery.

[Management of stridor]. / Conduite à tenir devant un stridor.

Pediatric stridor is usually due to benign laryngomalacia. This pathology of unknown origin usually heals spontaneously during the first 18 months of life. Mild laryngomalacia is characterized by normal weight growth, the absence of sleep apneas and of associated swallowing or neurological disorders. Medical treatment is sufficient to release symptoms. Severe clinical forms are more rare, representing about 10 % of cases. They require an endoscopic evaluation of the upper airway under general anesthesia, as well as an endoscopic suppraglottoplasty. Non-invasive ventilation is an interesting additional tool in case of surgical failures or in some infants with comorbid conditions.

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in the patient. In addition, our clinical data establish that the tectorial membrane and/or the outer hair cells are defective in this form of deafness.

Management of laryngomalacia.

Laryngomalacia is the most common laryngeal disease of infancy. It is poorly tolerated in 10% of cases, requiring assessment and management, generally surgical. Surgery often consists of supraglottoplasty, for which a large number of technical variants have been described. This surgery, performed in an appropriate setting, relieves the symptoms in the great majority of cases with low morbidity. However, few data are available concerning the objective results: preoperative and postoperative objective assessment of these infants is therefore necessary whenever possible. Noninvasive ventilation (NIV) may be indicated in some infants with comorbid conditions or failing to respond to surgical management.

[Genetic aspects of congenital sensorineural hearing loss]. / Aspects génétiques de la surdité

Hearing loss is the most common sensory disability with an incidence of one over 1000 newborns. Hearing loss may be caused by environmental and genetic factors; inherited causes are assumed in two thirds of cases. There is a great clinical and genetic heterogenicity. All inheritance modes have been described. Mutations in the GJB2 gene, which encodes connexin 26, are mainly responsible for sensorineural deafness resulting in prelingual non syndromic autosomal recessive phenotypes DFNB1. The 35 delG mutation of this gene is very frequent (70% of the cases). Thus, 35 delG is, with the delta F508 mutation of the CFTR gene, the most frequent human pathogenic mutation known. Hearing loss might also be associated with other clinical features. Some of these syndromes, including hearing loss, have to be looked for systematically because of their frequency, of their possible clinical presentation as an isolated hearing loss and of the possibility of a medical treatment.

Infantile haemangioma and ß-blockers in otolaryngology.

Infantile haemangioma (IH) is the most common tumour during early childhood. Although these benign lesions resolve spontaneously, up until recently laryngotracheal sites of IH required invasive management. The dramatic efficacy of ß-blockers on IH has radically changed the prognosis. Surgery is now no longer indicated as first-line therapy, but should only be performed for difficult, refractory cases, or in the presence of absolute contraindications to ß-blockers. Long-term steroid therapy is also no longer indicated. Propranolol can be used as first-line, single-agent therapy.

Childhood cholesteatoma.

Although cholesteatoma was first described in 1683, its etiopathogeny remains unexplained. In children, there are two forms: acquired cholesteatoma, resembling the adult form, and congenital cholesteatoma. The acquired form has become less frequent in recent years, thanks to progress in the treatment of childhood otitic pathology. Diagnosis of congenital cholesteatoma, on the contrary, is increasing, due to improvements in information to health care professionals and in diagnostic tools. Clinical and histological evidence points to greater aggressiveness in childhood forms, although this difference cannot, at present, be precisely explained. Diagnosis is clinical, but CT and MR imaging is indispensable for preoperative assessment and postoperative follow-up. New delayed gadolinium-enhanced T1-weighted and diffusion-weighted MRI sequences have recently been developed and provide more precise radiological diagnosis. Treatment is surgical; alternatives, notably by laser, have proved unsuccessful. Complications concern involvement of neighbouring structures, and are mainly infectious; some can be life-threatening, and should be systematically screened.

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.

Cerebral, ocular, dental, auricular, skeletal syndrome (CODAS, OMIM 600373) is a very rare congenital malformation syndrome. This clinical entity is highly distinctive and associates mental retardation, cataract, enamel abnormalities, malformations of the helix, epiphyseal and vertebral malformations, and characteristic dysmorphic features. Since 1991, only three affected children have been reported. The etiology and pattern of inheritance of CODAS syndrome still remain unknown. We describe a new sporadic case presenting with all the characteristic features of CODAS syndrome associated with previously unreported malformations of the heart, larynx, and liver. All investigations such as karyotype, metabolic screening and array CGH were normal.

Phenotype and genotype in females with POU3F4 mutations.

X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified.

[Nasal glial heterotopia: embryological and clinical approaches]. / Hétérotopie gliale nasale: approches clinique et embryologique.

INTRODUCTION: Nasal gliomas or heterotopia are nonhereditary congenital malformations composed of heterotopic neuroglial tissue. They usually present in infancy. Evaluation should include preoperative imaging with CT scan and/or MRI to rule out intracranial extension. There have been several cases reported in which nasal gliomas were misdiagnosed as capillary hemangiomas. The differential diagnosis includes prenasal space developmental impairment, which are nasoethmoidal meningoencephaloceles, nasal dermoid and epidermoid cysts. CASE REPORT: We describe the case of a newborn male infant presenting at birth with a paramedial nasal glioma. An embryological and clinical analysis of nasal gliomas is proposed. DISCUSSION: Nasal glioma is an uncommon congenital lesion presenting as a large panel of midline craniofacial anomalies. The embryological and anatomical origins of nasal gliomas are reviewed. The most known embryological theory was described by Grünwald in 1910 and is called the "prenasal space" theory. This theory is very attractive because of the embryopathogenic continuum proposed among dermoids, gliomas, and encephaloceles. In this article, we discuss major embryological theories on nasal gliomas pathogenesis and propose that while the prenasal space theory can explain the occurrence and the continuum between basal anterior or prenasal encephaloceles and gliomas, it cannot explain the occurrence of craniofacial demoids of the same topography. Better knowledge of embryological mechanisms implicated in the pathogenesis of nasal gliomas can help clinical management of this kind of malformations.