Pierre Bonfils
Centre national de la recherche scientifique
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Featured researches published by Pierre Bonfils.
BMC Medical Genetics | 2002
Dominique P Germain; Paul Avan; Augustin Chassaing; Pierre Bonfils
BackgroundFabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestations, few data are available regarding the cochlear involvement.MethodsWe non-invasively investigated cochlear functions in 22 consecutive hemizygous males (age 19–64 years, mean 39) affected with classic FD. Conventional audiometry, tympanometry, ABR audiometry, otoacoustic emissions were performed in all patients, together with medical history record and physical examination as part of an exhaustive baseline evaluation prior to enzyme replacement therapy.ResultsA total of 12 patients (54.5%) with classic FD were found to have abnormal audition. Five patients had progressive hearing loss and seven patients (32%) experienced sudden deafness. In addition, a hearing loss on high-tone frequencies was found in 7 out of the 10 remaining patients without clinical impairment, despite their young age at time of examination. The incidence of hearing loss appeared significantly increased in FD patients with kidney failure (P < 0.01) or cerebrovascular lesions (P < 0.01), whereas there was no correlation with left ventricular hypertrophy. In addition, tinnitus aurium was also found in six patients (27%).ConclusionThis is the first evidence of a high incidence of both progressive hearing loss and sudden deafness in a cohort of male patients affected with classic Fabry disease. The exact pathophysiologic mechanism(s) of the cochlear involvement deserves further studies.
Pediatrics | 2005
Christel Chalouhi; Patrick Faulcon; Christine Le Bihan; Lucie Hertz-Pannier; Pierre Bonfils
Objective. To find an efficient tool for testing olfactory function in children and use it to investigate a group of children with CHARGE (coloboma, congenital heart disease, choanal atresia, mental and growth retardation, genital anomalies, and ear malformations and hearing loss) syndrome. Methods. We adapted for children an olfaction test that had just been validated in an adult French population and investigated a control group of 25 healthy children aged 6 to 13 years. We then tested the olfactory capacity of a group of 14 children with CHARGE syndrome, aged 6 to 18 years. A questionnaire was completed with the parents about their childrens feeding difficulties and their ability to recognize odors in everyday life. We recorded and scored the histories of feeding behavior anomalies, the visual and auditory status, and current intellectual levels. MRI of the olfactory tracts and bulbs was analyzed for 9 of 14 children. Results. We showed that healthy children have similar olfactory function to that of the adult control group, which was representative of the general population, without any difference for either gender or age. We also showed that all children with CHARGE syndrome had olfactory deficiency. Half of them were anosmic, and the others had olfactory residual function (hyposmic). We found no association between olfactory deficiency and feeding behavior, visual or auditory impairment, or intellectual level. Parental subjective evaluations were accurate for only half of the group. All of the MRIs showed anomalies of the olfactory tracts and bulbs varying from moderate hypoplasia to complete aplasia, without any relation between the radiologic and the functional results. Conclusions. Olfaction can be assessed in children, even the young and disabled. Our results support the proposition that rhinencephalon anomalies should be included as a major criterion for the diagnosis of CHARGE syndrome.
Laryngoscope | 1990
Pierre Bonfils; Annie Dumont; Philippe Marie; Martine François; Philippe Narcy
Evoked otoacoustic emissions (EOEs) were recorded in a group of normally hearing neonates (n= 100 ears) to study the basic properties of EOEs and the parameters influencing them. The results obtained with EOE recordings were compared with those of behavioral screening investigations. The main properties of EOEs in neonates are: 1. EOEs can be recorded in 98% of the tested ears or neonates; 2. there were no statistically significant variations in EOE detection thresholds of neonates between the ages of 1 and 4 days; 3. no statistical difference in the EOE threshold was found between males and females; 4. all EOEs exhibited a broadband spectrum with high‐component frequencies; 5. EOEs demonstrating narrowband frequency peaks superimposed on the broadband component had detection thresholds lower than EOEs without narrowband frequency peaks. EOEs can be used as a screening test. The main clinical interest of this test is to detect the presence (i.e, normal auditory peripheral function) or the absence (i.e., pathological peripheral auditory function) of EOEs in response to a 30‐dBHL click stimulation. The results of this study have important applications concerning the possible clinical use of EOEs for screening peripheral auditory dysfunction in neonates.
Laryngoscope | 1992
Pierre Bonfils; Martine François; Paul Avan; Alain Londero; Jacques Trotoux; Philippe Narcy
Spontaneous (SOEs) and evoked otoacoustic emissions (EOEs) were recorded in a group of preterm neonates (N = 134 ears) in order to study the basic properties of SOEs and EOEs as a function of gestational age. In the study, it was found that: 1. EOEs were recorded in 93% of the tested ears; 2. SOEs were recorded in 61% of the tested ears; 3. there were no statistically significant variations of EOE amplitude with gestational age; 4. EOE spectrum did not vary with age; and 5. the two main factors influencing EOE amplitude were the SOE presence and the fast Fourier transform spectrum, especially the lower limit of the spectrum. Thus, the maturation of outer hair cell properties appears to be complete at 32 weeks of gestational age. Because a number of infants at risk for hearing loss are preterm babies, screening for EOEs, an objective, rapid, and nontraumatic technique, may prove useful in evaluating peripheral auditory dysfunction in preterm neonates.
Laryngoscope | 2003
Pierre Bonfils; Jean-Marc Norès; Philippe Halimi; Paul Avan
Objectives/Hypothesis The management of nasal polyposis is undoubtedly a controversial subject. The part played by surgery seems to be steadily growing, if the number of published reports dedicated to this approach is any yardstick. Although the medical treatment remains the undisputed therapeutic mainstay, trials dedicated to the long‐term assessment of its overall efficacy are scarce.
Journal of the Acoustical Society of America | 1995
Paul Avan; Pierre Bonfils; Drystan Loth; Michel Elbez; Manuel Erminy
Transient-evoked otoacoustic emissions (TEOE) disappear when hearing loss exceeds 40 dB in the range 1-4 kHz, due to impairment of cochlear outer hair cells. Early screening of sensorineural hearing losses is based on this finding. However, little is known as to the frequency specificity of TEOE abnormalities in a damaged cochlea. TEOE were recorded in 18 normally hearing guinea pigs in a range from 1.5 to 5 kHz before and after exposure to loud pure tones (3-10 kHz, 95-105 dB SPL, 1-10 min). The thresholds of eighth-nerve compound action potentials (CAP) were monitored with a round-window electrode; it was confirmed that acoustic overexposure resulted in typical high-frequency threshold elevations (10 to 50 dB). Most TEOE components were found at lower frequencies at which CAP thresholds did not change. However, a significant linear regression was found between their amplitudes and the percentage of basal cochlea with unaltered CAP thresholds (r = 0.69, p < 0.0001). Two alternative hypotheses are proposed to account for this correlation. Either acoustic trauma induced some minute cochlear damage at places tuned to low frequencies and TEOE were more sensitive to it than CAP thresholds, or significant contributions to lower-frequency TEOE came from the most damaged cochlear places tuned to much higher frequencies.
Annals of Otology, Rhinology, and Laryngology | 1999
Didier Aidan; Paul Avan; Pierre Bonfils
The principal goal of an early identification program is to identify hearing impairment present at birth, in order to effect appropriate intervention as early as possible. Although recent research provides some evidence for the value of transient evoked otoacoustic emissions (TEOAEs) in neonate hearing screening, data are needed from large-scale clinical evaluations about the value of using TEOAEs for screening not only high-risk but also healthy neonates. A cohort of 1,421 neonates (2,842 ears) from the well-baby nursery was screened with TEOAEs in a 2-stage process. Neonates were referred from the first test prior to being discharged from the hospital. Those who failed were rescreened before the end of the first month. Those who did not pass the second-stage TEOAE screening were referred for diagnostic audiological evaluation for confirmation of hearing loss. Neonates transferred to a neonatal intensive care unit were not included in this study. Two neonates with bilateral sensorineural hearing loss of >40 dB hearing level were identified from this cohort. This study demonstrates the feasibility and the limitations of using TEOAEs as a universal hearing screening tool for all neonates. It confirms that the prevalence of hearing impairment in neonates has to be taken into account, even in a group of children without high-risk criteria. In France, a prevalence of 1.4 per 1,000 would represent 1,000 deaf children born every year, with reference to about 700,000 births per year. This study suggests that such universal screening programs would substantially increase the rate of early-identified infants with significant hearing impairment.
Auris Nasus Larynx | 2001
Bernard Biacabe; Jean Chevallier; Paul Avan; Pierre Bonfils
Brainstem auditory evoked potentials (BAEP) are used routinely in clinical practice to evaluate the normality of the lower auditory system. The objective of this review is to describe the functional anatomy of the structures implicated in BAEP generation (cochlear nerve and the auditory brainstem nuclei). Indications and results of BAEP in clinical practice are presented and correlated with auditory structures, which generate each waveform of BAEP.
The Journal of Pediatrics | 1994
Martine François; Pierre Bonfils; Juliane Léger; Paul Czernichow; Philippe Narcy
No significant difference was found for the auditory thresholds at conversational and high frequencies between 42 children with congenital hypothyroidism treated with L-thyroxine and an age-matched control group, regardless of the cause of the thyroid failure or hormone level and the age at the start of treatment.
Annals of Otology, Rhinology, and Laryngology | 2005
Pierre Bonfils; Jean-Marc Norès; Philippe Halimi; Paul Avan; Catherine Le Bihan; P. Landais
Rhinitis and sinusitis concern roughly a quarter of the population in the Western world. They are associated with a wide range of symptoms: nasal obstruction, anterior and posterior nasal discharge, sneezing episodes, facial pain or congestion, and taste and smell disorders. The aim of this prospective study was to evaluate the clinical significance of these various symptoms as a function of the topographic diagnosis of chronic rhinosinusitis. The study involved 474 patients with signs of chronic perennial and persistent rhinosinusitis. The disorders of the nasal cavities and paranasal sinuses were classified into three main diagnostic categories: chronic rhinitis, localized sinusitis (mainly, anterior sinusitis), and diffuse rhinosinusitis (ie, nasal polyposis). A principal components analysis was performed. The symptom patterns of the three main clinical entities differed greatly. Most of the following clinical signs — nasal obstruction, anterior and posterior nasal discharge, sneezing, and facial congestion — are found in all diagnostic categories and hold no specific clinical significance. By contrast, four symptoms seem to have a substantial differentiating potential: anosmia and complete loss of flavor for diffuse rhinosinusitis, cacosmia for localized anterior sinusitis, and severe facial pain for localized sinusitis. This study proposes a new analysis of the relationship between symptoms of chronic rhinosinusitis and findings on a sinus computed tomography scan.