Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

OBJECTIVE: To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia). METHODS: We have gathered 25 patients presenting unilateral hearing impairment and ipsilateral enlarged vestibular aqueduct. For each of the patients, we have analyzed SLC26A4, FOXI1 and KCNJ10 genes sequences. RESULTS: The analysis of SLC26A4 revealed only eight heterozygous SLC26A4 sequence variants, three of them being novel (p.Met147Ile, p.Asn538Asn and p.Leu627Arg). None of the patients carried a second mutation on the other allele. Moreover, the SLC26A4 locus was excluded by segregation analysis in two families. No mutations were present in FOXI1 and KCNJ10 genes. CONCLUSIONS: Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct.

[Epidemiology of seasonal spring-time allergic rhinitis in adults in France]. / Epidémiologie des rhinites allergiques saisonnières printanières chez l'adulte en France.

OBJECTIVE: Describe the profile of patients consulting a general practitioner or allergologist for seasonal spring-time allergic rhinitis (SAR) in France. METHODS: 3.348 physicians (3.284 general practitioners and 64 allergologists) recruited in 4 monthly episodes from March to June 1998, 34.851 patients consulting for SAR. Using a questionnaire, demographical data concerning the practitioners consulted and all the patients were collected. For 12,420 patients the symptomatology, history of asthma and ongoing treatment for SAR were analysed by comparing the population consulting a general practitioner (A) or an allergologist (B). RESULTS: Mean age for all patients with suspected SAR was of 37.1 +/- 15.7 years with a majority of women (54.90%). For 1,441 patients, it was the first consultation for this disorder, notably with a general practitioner, (11.1 vs. 2.4%). Aqueous rhinorrhea, sneezing and nasal obstruction were the most frequent symptoms noted, without significant difference between the type of practitioner consulted. 5.711 patients had undergone previous allergy tests, with more skin tests in the group consulting an allergologist (78 vs. 44.9%). Association with history of asthma was similar in both groups (30%). Impact on daily life was almost identical, whether isolated or associated with past history of asthma (56 vs. 51.6%), but differed with regard to sleep (56.7 vs. 21.1%). During the consultation, 5.889 patients were already treated with antihistamines (83.2%), whatever the type of practitioner consulted. CONCLUSION: Seasonal spring-time allergic rhinitis is a frequent pathology, which significantly impairs quality of life. There is little difference in patients' profile whether they consult a general practitioner or an allergologist.

Diffuse nasal polyposis and endonasal endoscopic surgery: long-term results, a 65-case study.

OBJECTIVE: To analyze the efficacy of a standardized surgical procedure in patients with nasal polyposis. STUDY DESIGN: Prospective study of nonrandomized cases from a single institution. METHODS: An inception cohort of 65 consecutive patients with nasal polyposis observed from January 1994 to December 1997. Presence of asthma, allergies, or aspirin intolerance, duration of nasal polyposis, previous surgery, and medical treatment were noted. Clinical symptoms were evaluated with a visual analogue scale (VAS), and a preoperative computed tomography scan was performed before the surgical procedure. At the end of the study, an evaluation was performed to collect all information concerning nasal symptoms, asthma conditions, quality of life, and patient's opinion about this type of surgery. RESULTS: Sixty patients have completed the study. Polyposis was isolated in 29 patients (group A), asthma was present in 21 patients (group B), and aspirin intolerance in 10 patients (group C). Nasal obstruction (n = 53/60, 88.3%) and olfactory disturbances (n = 54/56, 96.4%) were the main preoperative complaints, according to the VAS, with a high degree of severity. No significant difference for nasal symptomatology was found between the three groups. Nasal obstruction and olfactory dysfunction was improved in 37 and 42 patients, respectively, without a statistical significance between the groups. A reduction of the antiasthmatic treatment was observed in 24 of 31 patients. A massive and anteriorly localized recurrence was noted in 3 and 19 patients, respectively. CONCLUSIONS: Endoscopic sphenoethmoidectomy is indicated for nasal polyposis refractory to intensive medical management with a good improvement of patient's quality of life.

Retrospective case study of carbon dioxide laser stapedotomy with lens-based and mirror-based micromanipulators.

Most clinical studies on carbon dioxide (CO2) (lambda = 10.6 mm) laser stapedotomy have been carried out with the laser guided by a conventional lens-based micromanipulator, with the attendant risks of correct aiming (HeNe) and surgical (CO2) beam misalignment. Hence, engineering advances have attempted to improve laser targeting as well as the spot size focus. The development of the mirror-based micromanipulator was a response to this need but no data concerning its use in stapes surgery is available. We performed a retrospective case-series review of patients treated for otosclerosis between 1992 and 2000. Primary laser stapedotomy was performed in 218 consecutive patients. In the first 78 procedures, the aiming beam (HeNe, lambda = 632 nm) and surgical beam (CO2) were guided with a conventional lens-based micromanipulator whereas in the subsequent 140 procedures, they were guided by using a mirror-based micromanipulator. Hearing was tested at six and 12 months. The mean (SD) airbone gap was 5 dB (4.5) and 4.5 dB (3.9). The mean closure was 15 dB (9.9) and 14.4 dB (9.4). The mean change in the high-tone bone-conduction level was 5.5 dB (7.3) and 7.8 dB (7.5). Overheating of the facial canal produced transient facial paralysis in one case and was due to misalignment of the beams with the lens-based micromanipulator. Use of the mirror-based micromanipulator obviated the need to verify alignment. The light-weight and superior optical yield of this system made it possible to reduce the number of impacts on the footplate by the integral restitution of the energy source. This study demonstrated that the CO2 laser is an effective method for performing stapedotomy. In addition, microtrauma to the labyrinth is reduced by its ability to perform calibrated footplate fenestration without mechanical or vibrational injury to the inner ear. The optical reflection micromanipulator simplified beam alignment and enhanced surgical comfort.