Biomedical subjects

Michel Mondain

Publications and source records attributed to Michel Mondain.

12 recordsLinked to original sources

PubMed2006

Fourth branchial pouch sinus: from diagnosis to treatment.

BACKGROUND: Fourth branchial pouch sinus (FBPS) is rare and frequently unknown to clinicians. Misdiagnosis is common and definitive surgery is often made difficult by previous episodes of infection and failed attempts at excision. The purpose of this paper is to clarify the diagnostic criteria and the methods used for the surgical management of FBPS. MATERIALS AND METHOD: From a series of 265 head and neck cysts and fistulae, 7 cases of FBPS were retrospectively reviewed. The surgical technique is detailed. RESULTS: Six cases were located on the left side and one on the right. CT scanning showed an air-filled structure on both sides of the lesser horn of the thyroid cartilage in 2 cases out of 4, and barium swallow found a FBPS in 1 case out of 3. Direct pharyngoscopy allowed confirmation of the diagnosis in all cases and permitted catheterization of the tract with the spring guidewire of a vascular catheter which helped surgical location and subsequent dissection. The recurrent laryngeal nerve was systematically dissected to avoid inadvertent damage. A hemi-thyroidectomy was performed in one case. A transient laryngeal paralysis (lasting 9 months) was noted in a 3-week-old newborn operated on. None of the 7 cases had a recurrence after complete resection of the FBPS (3.7 years average follow-up). CONCLUSION: Symptoms on the right side do not exclude the diagnosis of a FBPS. Endoscopy is the key investigation. It allows confirmation of the diagnosis and catheterization of the tract, which aids the surgical dissection. Total removal of the sinus tract tissue with dissection and preservation of the recurrent laryngeal nerve is recommended. EBM RATING: A-1.

Adolescent↗

PubMed2005

GJB2 mutations and degree of hearing loss: a multicenter study.

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (P<.0001). The HI of 48 different genotypes was less severe than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes.

Adolescent↗

PubMed2005

Preservation of residual hearing with cochlear implantation: how and why.

CONCLUSIONS: Hearing may be conserved in adults after implantation with the Nucleus Contour Advance perimodiolar electrode array. The degree of hearing preservation and the maximum insertion depth of the electrode array can vary considerably despite a defined surgical protocol. Residual hearing combined with electrical stimulation in the same ear can provide additional benefits even for conventional candidates for cochlear implantation. OBJECTIVES: We present preliminary results from a prospective multicentre study investigating the conservation of residual hearing after implantation with a standard-length Nucleus Contour Advance perimodiolar electrode array and the benefits of combined electrical and acoustic stimulation. MATERIAL AND METHODS: The subjects were 12 adult candidates for cochlear implantation recruited according to national selection criteria. A "soft" surgery protocol was defined, as follows: 1-1.2-mm cochleostomy hole anterior and inferior to the round window; Nucleus Contour Advance electrode array inserted using the "Advance-off-stylet" technique; and insertion depth controlled by means of three square marker ribs left outside the cochleostomy hole. These procedures had been shown to reduce insertion forces in temporal bone preparations. Variations in surgical techniques were monitored using a questionnaire. Pure-tone thresholds were measured pre- and postoperatively. Patients who still retained thresholds <90 dB HL for frequencies up to 500 Hz were re-fitted with an in-the-ear (ITE) hearing aid. Word recognition was tested in quiet and sentence perception in noise for the cochlear implant alone and in combination with an ipsilateral hearing aid. RESULTS: Hearing threshold level data were available for 12 patients recruited from 6 of the centres. Median increases in hearing threshold levels were 23, 27 and 33 dB for the frequencies 125, 250 and 500 Hz, respectively. These median increases include the data for two patients who had total loss of residual hearing due to difficulties encountered during surgery. "Cochlear view" X-ray images indicated that the depth of insertion varied between 300 and 430 degrees, despite modest variations in the length of the electrode inserted (17-19 mm). The insertion angle had some influence on the preservation of residual hearing at frequencies of 250-500 Hz. Six of the 12 patients retained sufficient hearing for effective use of an ipsilateral ITE hearing aid (< or = 80 dB HL at 125 and 250 Hz; < or = 90 dB HL at 500 Hz). Word recognition scores in quiet were improved from 10% to 30% with the cochlear implant plus ipsilateral hearing aid in 3 patients who had at least 3 months postoperative experience. Signal:noise ratio thresholds for sentence recognition were improved by up to 3 dB. Patients reported that they experienced greatly improved sound quality and preferred to use the two devices together.

Adult↗

PubMed2004

Molecular epidemiology of DFNB1 deafness in France.

BACKGROUND: Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. METHODS AND RESULTS: Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC) and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. CONCLUSION: Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness.

Connexin 26↗

PubMed2004

Modeling the relationship between psychophysical perception and electrically evoked compound action potential threshold in young cochlear implant recipients: clinical implications for implant fitting.

OBJECTIVE: In cochlear implant recipients, the threshold of the electrically evoked compound action potential (ECAP) has been shown to correlate with the perceptual detection threshold and maximum comfortable loudness levels (respectively, T- and C-levels) used for implant programming. Our general objective was to model the relationship between ECAP threshold and T/C-levels by taking into account their relative changes within each subject. In particular, we were interested in investigating further the validity of ECAP threshold as a predictor of psychophysical levels, depending on intra-cochlear electrode location and time of testing (from 1 to 18 months post-implantation). METHODS: A total of 370 ECAP thresholds, measured in 49 children, using a Nucleus 24 cochlear implant, were compared with the corresponding T- and C-levels obtained at the same visit, for the same electrode. Response profiles for the whole group of patients were modeled across four test electrodes spaced equally along the electrode array from base towards apex. A linear regression model was constructed and the quality of the ECAP threshold-based predictions was assessed by testing for correlation between measured and predicted psychophysics. Comparison was made with a more simplistic model (described here as the 'parallel profiles method') stipulating, within each subject, a 1 microA increase in psychophysical levels for every 1 microA increase in ECAP threshold. RESULTS: Offset between ECAP threshold and psychophysics profiles was found to vary significantly along the electrode array for the T-, but not for the C-level. In contrast with the parallel profiles method, our regression model predicted, within each subject, an average increase of 0.23 microA (95% confidence interval: 0.18-0.28) in T-level for every 1 microA increase in ECAP threshold. This correction improved the quality of T-level prediction when our model was run using measured T-level and ECAP threshold from a reference electrode (r=0.77 vs. r=0.62). The shorter the distance between the electrode for which T-level was predicted and the one used as reference, the stronger the correlation between measured and predicted T-levels. In addition, poorer T-level predictions were obtained at the basal end of the array during the first 3 months post-implantation. In contrast to T-level, individual changes in C-level with ECAP threshold exhibited heterogeneous patterns across subjects so that no common coefficient could account for these changes. However, applying the parallel profiles method led to high-quality C-level prediction. CONCLUSIONS AND SIGNIFICANCE: The results suggest that covariation between ECAP thresholds and psychophysics plays a decisive role in the relationship of ECAP threshold with T-, but not with C-level. Therefore, our regression model and the parallel profiles method should both be used for predicting, respectively, the T- and the C-levels. Although the predictability of our regression model seems to be better for middle and apical electrodes, its utilization should be extended to basal electrodes after 6 months' implant use.

Action Potentials↗

PubMed2004

Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.

OBJECTIVES/HYPOTHESIS: Several genetic diseases, such as velocardiofacial syndrome Del(22q11) and Down syndrome, are associated with hearing impairment. STUDY DESIGN: Case reports. METHODS: The authors reported two cases of hearing-impaired children, one with Del (22q11) and one with Down syndrome, both with bilateral nonevolutive profound sensorineural deafness. Because of unusual features of their deafness and familial history, genetic evaluation was proposed. A homozygous 35delG mutation on the Connexin 26 gene was found in both children (DFNB1 phenotype). RESULTS: A review of the reported otological features of Del (22q11) and Down syndrome showed that sensorineural deafness is rare and seldom profound. The authors found no evidence for a genetic link between Del(22q11) or Down syndrome and 35delG mutation on the Connexin 26 gene. CONCLUSION: The case reports reveal a coincidental association between DFNB1 and a multiple congenital anomaly syndrome. The clinician must be aware of this type of association to manage genetic counseling, appropriate otological care, and suitable treatment.

Child↗

PubMed2003

Failures and complications of supraglottoplasty in children.

OBJECTIVES: To study the failures and complications of bilateral supraglottoplasty in children with severe laryngomalacia and to compare children with isolated laryngomalacia (IL) with those who have additional congenital anomalies (ACAs). DESIGN: Retrospective medical record review. SETTING: Two tertiary referral centers. SUBJECTS: A total of 136 consecutive patients, aged 3 days to 60 months (median age, 3 months) who underwent laser or instrumental bilateral supraglottoplasty. Isolated laryngomalacia occurred in 102 children, aged 3 days to 19 months; ACAs were found in 34 children, aged 3 weeks to 60 months. OUTCOME MEASURES: Persistence of dyspnea, sleep apnea, and/or failure to thrive; need for further treatment; minor complications (defined as granuloma, edema, or small web); or major complication (supraglottic stenosis). RESULTS: Failures or partial improvement were observed in 12 (8.8%) of 136 cases, all having ACAs. The overall rate of complications was 7.4% (10/136). There were no significant differences between the IL and ACA groups concerning the rate of recurrence needing revision surgery (3/102, 2.9% vs 3/34, 9%), the rate of minor complications (4/102, 3.9% vs 1/34, 3%), or the rate of supraglottic stenosis (4/102, 3.9% vs 1/34, 3%). Supraglottic stenosis was managed by revision surgery in 4 cases and/or noninvasive ventilatory assistance in 2 cases. The long-term outcome appeared to be better when reintervention could be avoided or was kept to a minimum. CONCLUSION: Failure of supraglottoplasty was only observed in cases of laryngomalacia with ACAs. The complication rate was similar whether or not ACAs were present.

Airway Obstruction↗

PubMed2003

Rehabilitation for high-frequency sensorineural hearing impairment in adults with the symphonix vibrant soundbridge: a comparative study.

OBJECTIVE: To assess and compare the benefits for patients with high-frequency hearing loss obtained from an implantable middle ear implant, the Symphonix Vibrant Soundbridge using the SIGNIA processing circuitry, to those derived from conventional amplification using the same integrated circuitry and to those derived from a variety of preoperatively worn hearing aids. STUDY DESIGN: A single-subject, repeated-measures study design was used for a comparative evaluation of the benefits derived from the Symphonix Vibrant Soundbridge and conventional amplification. Objective audiometric measures were performed postoperatively to compare the Symphonix Vibrant Soundbridge (404) and SIGNIA hearing aid, both using the SIGNIA processing chip. Tests were performed under three conditions: unaided, aided Symphonix Vibrant Soundbridge (404), and aided SIGNIA hearing aid. Subjective self-assessment scales, standardized and nonstandardized, were completed for the Symphonix Vibrant Soundbridge (404) and the preoperative hearing aid to compare the personally perceived benefits. Statistical comparison of the data sets with each device type was performed using the nonparametric Wilcoxon test. SETTING: One tertiary teaching hospital and one hearing aid specialist fitting office. SUBJECTS: Six patients displaying a high-frequency hearing loss who had the Symphonix Vibrant Soundbridge implanted for an average of 17 months. INTERVENTION: Rehabilitative. RESULTS: Aided thresholds with the Symphonix Vibrant Soundbridge (404) and the SIGNIA hearing aid showed no significant difference. Speech comprehension scores in quiet and in noise were significantly improved with each device type over the unaided condition scores. Individual performance on speech test measures was equivalent or superior with the Symphonix Vibrant Soundbridge (404) in comparison with that with the SIGNIA hearing aid. When using the Symphonix Vibrant Soundbridge (404) in quiet, the group achieved 50% speech comprehension at significantly softer presentation levels (p = 0.027) than when wearing the SIGNIA hearing aid. Similarly, in noise, 50% speech comprehension was achieved at significantly lower (more difficult) signal-to-noise ratios (p = 0.028) with the Symphonix Vibrant Soundbridge (404) than with the SIGNIA hearing aid. The level of satisfaction for various aspects of the device and performance and listening ease, particularly in the presence of aversive sounds and in reverberant conditions, was reported as significantly better with the Symphonix Vibrant Soundbridge (404) than with the preoperative hearing aid. CONCLUSIONS: Despite similar gain with each device type using the same SIGNIA processing technology, the patient group demonstrated significant advantages for speech comprehension in quiet and in noise when using the Symphonix Vibrant Soundbridge (404). Such an effect may be attributed to higher fidelity sound transmission by means of the direct-drive mechanism used by the implant. Subjective reports support the results from the objective assessments, both being in favor of the implant over conventional amplification. In conclusion, the Symphonix Vibrant Soundbridge (404) is a suitable treatment option offering advantages over conventional amplification to the hearing-impaired person with a high-frequency hearing loss.

Adult↗

PubMed2002

Cochlear implantation in prelingually deafened children with residual hearing.

OBJECTIVE: The purpose of this study was to examine the speech perception skills of prelingually deafened French children with preoperative residual hearing who received multichannel cochlear implants. DESIGN: The design of the study incorporated a within-subject, repeated measures design for assessing speech perception skills. SETTING: Montpellier, Toulouse and Lyon Pediatric Cochlear Implant Centers. SUBJECTS: Seven prelingually deafened children demonstrating marginal benefit from conventional amplification prior to implantation with a Nucleus multichannel cochlear implant, served as subjects for the speech perception assessment (a speech recognition score less than 30% defines marginal benefit from acoustic amplification on open set materials). The mean age at implantation was 7 years, 9 months. OUTCOME MEASURES: Speech perception skills were assessed using open set materials and the MUSS and MAIS questionnaires. RESULTS: Open-set speech recognition averaged 21.4% before implantation, and 83.6% after 1 year's cochlear implant experience. All children demonstrated an open-set score over 60% after 12 months of CI use. MAIS test scores averaged 18.1/40 before implantation and 35.1/40 after 9 months of CI use. MUSS test scores averaged 24.4/40 before implantation and 34.1/40 after 9 months of CI use. CONCLUSIONS: Cochlear implantation should be considered for prelingually hearing impaired children demonstrating marginal benefit from hearing aids, with a speech recognition score less than 30% on open set materials, in order to improve their speech discrimination skills.

Audiometry↗

PubMed2002

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Congenital profound deafness has a known genetic origin in more than 50% of all cases. The majority of the non syndromic hearing loss (NSHL) show an autosomal recessive inheritance. Mutations in the GJB2 gene (connexin 26) account for more than 50% of the recessive non syndromic deafness (DFNB1) among 30 loci. Other connexin genes have been more rarely involved and attention was given here to the GJB6 gene (connexin 30). We show that homozygous deletion of a minimal 150 kb region encompassing this gene causes NSHL. More strikingly, association of this deletion in trans of the GJB2 gene 35delG or E47X mutations is also associated with NSHL.

Connexin 26↗

PubMed2002

Characteristics of tinnitus and etiology of associated hearing loss: a study of 123 patients.

The aim of this study was to highlight the clinical characteristics of tinnitus and to attempt a quantitative assessment in relation to any underlying etiologies. We undertook to study a population of 123 patients attending a tinnitus clinic between 1998 and 2000. Their answers on a questionnaire allowed detailed evaluation of the characteristics of tinnitus, including such variables as the circumstances in which the tinnitus was first noticed and evaluation of its intensity and frequency. The patients each underwent a full neurootological examination with the aim of diagnosing an etiology. The great majority of tinnitus patients had an endocochlear deafness and, among these patients, acoustic trauma, endolymphatic hydrops, and presbyacusis were the commonest diagnoses (32%, 32%, and 23%, respectively). Of these patients, 93.7% with noise trauma an 86.9% with presbyacusis described their tinnitus as a stable, high-pitched whistling. Those patients with active Ménière's disease or Ménière's-like syndrome described a low-pitched buzzing tinnitus. Analysis of those patients with a stable high-pitched tinnitus associated with a high-frequency hearing loss shows a statistically significant correlation between the elevation of the audiometric thresholds and the loudness of the tinnitus. For a large majority of patients with tinnitus, therefore, audiometry provides an indirect test for evaluating the tinnitus.

Adolescent↗

PubMedDate not supplied

ENT and speech disorders in children with Down's syndrome: an overview of pathophysiology, clinical features, treatments, and current management.

Down's syndrome is the most commonly occurring genetic abnormality, involving about 1 in 600 births. The increasing life expectancy of individuals with Down's syndrome has revealed the presence of several unexpected pathological processes. Among these, ENT disorders hold an important place because of their high incidence and severity. Accurate knowledge of the pathophysiology underlying ENT disorders (facial dysmorphism, ear abnormalities, upper airway abnormalities, and immunodeficiency) allow an understanding of the reasons for the development of the upper airway obstruction, obstructive sleep apnea syndrome, subglottic stenosis, deafness, speech delay, and ENT infections that occur frequently in these children. Early screening and specific treatment may allow some of the long-term sequelae to be avoided, or at least their prognosis to be improved. In order to help health care professionals in their daily practice, this review makes a series of recommendations to allow them to develop a master plan for the ENT management of children with Down's syndrome. In children with Down's syndrome, ENT disorders occur frequently and are often severe. They develop owing to craniofacial, functional, and immune system abnormalities. Early screening and treatment allow improvements in long-term outcomes.

Abnormalities, Multiple↗