Nasal obstructive disorders induce medical treatment failure in paediatric persistent allergic rhinitis (The NODPAR Study).

BACKGROUND: Allergic rhinitis (AR) is the most common chronic disease among children. To characterize the disease, a modified classification of severity (m-ARIA) has recently been validated in AR children. When medical treatment fails, surgery for nasal obstructive disorders (NOD) may be a therapeutic option. Our objective was to assess the prevalence of NOD and their influence in medical treatment response among children with persistent AR (PER). METHODS: In a prospective, real-life study, 130 paediatric PER patients (13.1 ± 2.8 years, females 31.5%, severe rhinitis 49%) referred from Allergy to ENT department were assessed for their response (R, responders; NR, non-responders) to medical treatment (intranasal steroids and antihistamines or antileukotrienes) by direct questioning and nasal symptom visual analogue scale, the presence of NOD (septal deformity, turbinate enlargement and adenoidal hyperplasia), comorbidities, nasal symptoms, rhinitis severity (modified ARIA criterion) and asthma control (International Consensus On Pediatric Asthma criterion). RESULTS: After 2 months of treatment, the NR group presented a higher prevalence of obstructive septal deformity and severe inferior turbinate enlargement when compared with the R group. Higher septal deformity and turbinate enlargement scores were strongly associated with treatment refractoriness. The prevalence of severe PER was also higher for the NR group. Higher asthma control scores were associated with the probability of treatment-induced improvement. CONCLUSIONS: In paediatric PER patients, medical therapy refractoriness was associated with NOD, mainly septal deformity and turbinate enlargement. In those patients, ENT examination will facilitate an early NOD diagnosis in order to indicate potential corrective surgery.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of the sensorineural hearing impairment, the presence or absence of vestibular dysfunction, and the age of onset of the retinitis pigmentosa. A total of 10 causal genes, 6 for USH1, 3 for USH2, and 1 for USH3, and an USH2 modifier gene, have been identified. A robust molecular diagnosis is required not only to improve genetic counseling, but also to advance gene therapy in USH patients. Here, we present an improved diagnostic strategy that is both cost- and time-effective. It relies on the sequential use of three different techniques to analyze selected genomic regions: targeted exome sequencing, comparative genome hybridization, and quantitative exon amplification. We screened a large cohort of 427 patients (139 USH1, 282 USH2, and six of undefined clinical subtype) from various European medical centers for mutations in all USH genes and the modifier gene. We identified a total of 421 different sequence variants predicted to be pathogenic, about half of which had not been previously reported. Remarkably, we detected large genomic rearrangements, most of which were novel and unique, in 9% of the patients. Thus, our strategy led to the identification of biallelic and monoallelic mutations in 92.7% and 5.8% of the USH patients, respectively. With an overall 98.5% mutation characterization rate, the diagnosis efficiency was substantially improved compared with previously reported methods.

Manejo endoscópico de mucoceles de senos paranasales: experiencia en 46 pacientes / Endoscopic management of paranasal sinus mucoceles: experience with 46 patients

Objetivo: El propósito de este estudio es determinar los cambios en el tratamiento quirúrgico de los pacientes con diagnóstico de mucocele paranasal manejados en un hospital terciario de Latinoamérica. Nuestra hipótesis es que en los últimos ocho años la cirugía endoscópica endonasal ha emergido como la principal opción de tratamiento para esta patología. Material y métodos: Estudio retrospectivo descriptivo de todos los pacientes que fueron diagnosticados y tratados por mucocele de seno paranasal en el Departamento de Otorrinolaringología y Cirugía de Cabeza y Cuello de nuestro hospital durante los años 2002 al 2010. Se registraron datos demográficos de los pacientes, localización del mucocele, síntomas, abordaje quirúrgico y complicaciones. Resultados: Se incluyeron un total de 46 pacientes (27 de sexo masculino y 19 femenino). Esta serie comprendió 29 pacientes con mucocele frontal o frontoetmoidal (63%), 14 con mucocele maxilar (30,4%) y 3 pacientes con mucocele esfenoidal (6,5%). El 95% de los pacientes fueron tratados con cirugía endoscópica endonasal. Sólo 7 casos presentaron complicaciones (15,2%).Conclusiones: Este estudio confirma que en los últimos 9 años ha ocurrido un cambio significativo en el tratamiento quirúrgico de los mucoceles de cavidades paranasales, con un aumento de la cirugía endoscópica de un 34% a más de un 90%, siendo la primera opción de tratamiento (AU)

Objective: The purpose of this study was to determine changes in the surgical treatment of patients with the diagnosis of paranasal mucoceles managed in a Latin American hospital. We hypothesised that endonasal endoscopic surgeries had emerged as the main treatment option for this disease in the last five years. Methods: A retrospective chart review of all patients who were diagnosed with paranasal sinus mucoceles and treated at the Otorhinolaryngology Head and Neck Department of our hospital from 2002 to 2010 was performed. Patient demographic data, mucoceles location, symptoms, surgical approach and complications were recorded. Results: A total of 46 patients were included (27 males; 19 females). This series include 29patients (63%) with frontal or frontoethmoidal mucoceles, 14 (30.4%) with maxillary and 3 (6.5%) with sphenoid mucoceles. Ninety-five percent of the patients were treated with intranasal endoscopic surgery. Complications occurred only in 7 cases (15.2%). Conclusions: This study confirms that over the last 9 years significant changes have occurred in the surgical treatment of paranasal mucocele in our hospital, as endoscopic surgeries increased from 34% to over 90% as the first option of treatment for mucoceles (AU)

[Endoscopic management of paranasal sinus mucoceles: experience with 46 patients]. / Manejo endoscópico de mucoceles de senos paranasales: experiencia en 46 pacientes.

OBJECTIVE: The purpose of this study was to determine changes in the surgical treatment of patients with the diagnosis of paranasal mucoceles managed in a Latin American hospital. We hypothesised that endonasal endoscopic surgeries had emerged as the main treatment option for this disease in the last five years. METHODS: A retrospective chart review of all patients who were diagnosed with paranasal sinus mucoceles and treated at the Otorhinolaryngology Head and Neck Department of our hospital from 2002 to 2010 was performed. Patient demographic data, mucoceles location, symptoms, surgical approach and complications were recorded. RESULTS: A total of 46 patients were included (27 males; 19 females). This series include 29 patients (63%) with frontal or frontoethmoidal mucoceles, 14 (30.4%) with maxillary and 3 (6.5%) with sphenoid mucoceles. Ninety-five percent of the patients were treated with intranasal endoscopic surgery. Complications occurred only in 7 cases (15.2%). CONCLUSIONS: This study confirms that over the last 9 years significant changes have occurred in the surgical treatment of paranasal mucocele in our hospital, as endoscopic surgeries increased from 34% to over 90% as the first option of treatment for mucoceles.

In vitro model for intraoperative adjustments in an implantable hearing aid (MET).

OBJECTIVE: Assessment of the optimal static preloading of Otologics Middle Ear Transducer (MET) Ossicular Stimulator, when coupled to the incus. BACKGROUND: The MET Ossicular Stimulator is a partially implantable electromagnetic middle ear hearing device that transmits vibrations to the ossicular chain. The vibration patterns were measured with laser-Doppler vibrometry. STUDY DESIGN: Experimental. MATERIAL: We used three human cadaveric temporal bones (TB) and one MET ossicular stimulator. METHODS: Laser-Doppler vibrometry was used for the selection of TBs. The cochlea was subsequently extirpated from the posterior side to measure the vibrational patterns (VP) of the footplate. Three TBs with different VP were selected based on data obtained from volunteers with normal hearing (n = 110): one TB with a VP larger than +1 SD, one TB with a VP in the range of +/-1 SD, and 1 TB with a VP smaller than -1 SD. Transfer functions were calculated between VP of the measurement points at the coupling rod, umbo, incus, and footplate. The TBs were subsequently defrosted. The MET was implanted and coupled to the ossicular chain. Different coupling loads were measured at the incus, the umbo, and the footplate. RESULTS: Optimal transfer function between the MET transducer and the oval window was achieved during contact when the coupling rod advanced 0.0625 mm (90 degrees rotation). Additional advances of 0.0625 mm (180 degrees turn = 0.125 mm) resulted in a decreased vibrational amplitude, ranging between 20 and 40 dB below 3 kHz. The lowest linear distortion occurred up to 10 kHz during direct contact without advancing the coupling rod.

Safe and reliable sound threshold measures with direct vibration of the ossicular chain.

OBJECTIVES: The aim of the study was to evaluate the safety and feasibility of piezoelectric malleus vibration audiometer (MVA), which presents micromechanical vibrations to the umbo membranae tympani. STUDY DESIGN: Phase I study performed in a tertiary referral center (University Hospital). METHODS: The coupling rod of the MVA was moved slowly through the outer ear canal toward the eardrum with a micromanipulator. Coupling was completed when the rod tip touched the umbo membranae tympani. Basic audiologic measures of sound threshold obtained with direct stimulation of the malleus are presented. We used MANOVA (multivariate repeated measures ANOVA) to investigate the repeatability of MVA thresholds from one day to the other and when decoupling and retracting the coupling rod 2 mm off the umbo. We also selected the MANOVA to test for unwanted bone-conduction threshold shifts after MVA application. We assessed normality of the data by quantile-quantile plots of the residuals. RESULTS: Twenty-eight male and 10 female subjects with normal hearing, 22.2 to 34.6 years old (median age, 27.2 yr) underwent an examination. Thirty-six subjects underwent MVA, because 2 of the 38 subjects who volunteered for the study have not undergone the procedure due to the external auditory canal anatomy preventing application of the MVA. The results show that it is possible to safely and reliably measure thresholds of direct vibration of the ossicular chain. Using pure tone audiograms, no pure tone bone- and/or air-conduction threshold shifts occurred after the procedure. None of the subjects reported any other ear-related symptoms such as vertigo, tinnitus, or dizziness. Geometric mean vibratory displacements at threshold ranged from 0.55 nm at 250 Hz to 0.03 nm at 6 kHz. MANOVA demonstrated a repeatability of MVA thresholds. CONCLUSION: Malleus vibration audiometry will not allow exact linkage of actual implantable hearing aid. But the present study demonstrates that MVA can provide an audiometric tool for assessing ossicular function and integrity prior to implantation of an electronic hearing amplifier.

A patient database application for Hereditary Deafness Epidemiology and Clinical Research (H.E.A.R.): an effort for standardization in multiple languages.

One of the most challenging and neglected issues in medicine is the effective recording of the data obtained from the patients. The "European Work Group on the Genetics of Hearing Impairment," which has been working since 1996, proposed a few questionnaires to collect data regarding the phenotype, ENT findings, audiological examination findings and other special investigations. In this study, a computerized patient database application named "Izmir H.E.A.R version 1.0," written in Delphi 4.0 for Windows for recording the patients with hearing problems, is presented. The application consists of a modular form, including information about identity, genetic condition, proband query, audiology and vestibular tests, phenotype, pedigree and special examinations, which allows data entry on all these issues. It has been developed by using the guidelines of Hereditary Deafness Epidemiology and Clinical Research (H.E.A.R.) and by the experience gained within the last 10 years by the authors. The target population of the program is the ENT clinicians, audiologists, epidemiologists, geneticists and researchers in the field. The main idea is to create a program serving the needs of both the daily routine work and research purposes and to distribute this program to the above-mentioned specialists, to encourage them to try the first version and to find a standard and/or better way to collect data. For this reason, the program aims to be multilingual, and the currently available languages are English, German, Spanish and Turkish.