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1.
Arch Pediatr ; 29(2): 128-132, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34955300

RESUMEN

OBJECTIVES: The aim of our study was to describe clinical presentations, bacteriological results, and therapeutic management in a pediatric population presenting with acute pharyngeal suppuration. A further aim was to identify clinical, bacteriological, and radiological predictors of success associated with exclusive medical treatment. METHOD: A retrospective study was carried out including patients under 18 years of age hospitalized between January 1, 2015 and December 31, 2017 in our center for acute pharyngeal suppuration. We identified three groups of patients: group A, treated with exclusive intravenous antibiotics; group B, surgically treated after 48 h of appropriate antibiotic therapy, due to persistent fever and/or clinical worsening and/or persistence of a collection on follow-up imaging; group C, surgically treated as first-line therapy in association with intravenous antibiotics. A total of 83 patients were included: 36 in group A, 12 in group B, and 35 in group C. These three groups were compared for several variables: age of the patients, polynuclear neutrophil counts, diameter of the collections (the largest diameter found on imaging), duration of antibiotic therapy, delay before return to apyrexia, and hospitalization duration. RESULTS: A neck mass and torticollis were present, respectively, in 48.8 and 47.6% of cases. No breathing difficulties were reported. Streptococcus pyogenes was the most frequently identified microorganism. The average diameter of the collections from patients treated surgically as first-line therapy (group C) was significantly larger than that of the patients treated with antibiotics (group A) (27.89 mm vs. 18.73 mm, respectively, p = 0.0006). All the patients who required surgery despite 48 h of appropriate antibiotic therapy (group B) had collections with diameters greater than or equal to 15 mm. There was no significant difference between the groups concerning hospitalization duration. CONCLUSION: Exclusive medical treatment is associated with a high cure rate, mainly for collections with small diameter. We recommend special attention to patients treated with first-line exclusive intravenous antibiotic therapy and with a collection diameter greater than or equal to 15 mm.


Asunto(s)
Fiebre/etiología , Dolor de Cuello/etiología , Espacio Parafaríngeo/microbiología , Absceso Retrofaríngeo/microbiología , Staphylococcus aureus/aislamiento & purificación , Streptococcus pyogenes/aislamiento & purificación , Supuración/microbiología , Adolescente , Antibacterianos/administración & dosificación , Antibacterianos/uso terapéutico , Niño , Humanos , Cuello , Absceso Peritonsilar , Absceso Retrofaríngeo/terapia , Estudios Retrospectivos , Supuración/tratamiento farmacológico , Resultado del Tratamiento
2.
AJNR Am J Neuroradiol ; 42(7): 1313-1319, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33858822

RESUMEN

BACKGROUND AND PURPOSE: Previous studies have demonstrated the usefulness of non-EPI DWI for detection of residual cholesteatoma. However, limited data are available to determine the suitable duration of imaging follow-up after a first MR imaging with normal findings has been obtained. The present study aimed to determine the optimal duration of non-EPI DWI follow-up for residual cholesteatoma. MATERIALS AND METHODS: A retrospective, monocentric study was performed between 2013 and 2019 and included all participants followed up after canal wall up tympanoplasty with at least 2 non-EPI DWI examinations performed on the same 1.5T MR imaging scanner. MR images were reviewed independently by 2 radiologists. Sensitivity and specificity values were calculated as a function of time after the operation. Receiver operating characteristic curves were analyzed to determine the optimal follow-up duration. RESULTS: We analyzed 47 MRIs from 17 participants. At the end of the individual follow-up period, a residual cholesteatoma had been found in 41.1% of cases. The follow-up duration ranged from 20 to 198 months (mean, 65.9 [SD, 43.9] months). Participants underwent between 2 and 5 non-EPI DWI examinations. Analyses of the receiver operating characteristic curves revealed that the optimal diagnostic value of non-EPI DWI occurred 56 months after the operation when the first MR imaging performed a mean of 17.3 (SD, 6.8) months after the operation had normal findings (sensitivity = 0.71; specificity = 0.7, Youden index = 0.43). CONCLUSIONS: Repeat non-EPI DWI is required to detect slow-growing middle ear residual cholesteatomas. We, therefore, recommend performing non-EPI DWI for at least the first 5 years after the initial operation.


Asunto(s)
Colesteatoma del Oído Medio , Adolescente , Adulto , Anciano , Niño , Colesteatoma del Oído Medio/diagnóstico por imagen , Colesteatoma del Oído Medio/cirugía , Imagen de Difusión por Resonancia Magnética , Oído Medio , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sensibilidad y Especificidad , Adulto Joven
3.
Eur Ann Otorhinolaryngol Head Neck Dis ; 137 Suppl 1: S57-S63, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32792302

RESUMEN

This study concerns the results of cochlear implantation in children and adults from French cochlear implantation centers, monitored at one, two and three years by the Cochlear Implant French Registry EPIIC. This multicenter study enrolled 2603 subjects (1667 adults and 936 children) implanted in one ear. The following parameters were studied: hearing overall performances, monosyllabic or dissyllabic word perception, speech intelligibility, self-assessment questionnaire of Cochlear Implant (CI) benefits (Abbreviated profile of Hearing aid Benefit); professional activity and schooling. This study confirms the ceiling effect in adults' performances after the 1st year and the progressive growth in children's performances. It also shows that the contralateral hearing aid enhances performances compared to the CI alone condition, in all follow-up sessions. The French register of CIs is the only worldwide register of systematic follow-up on a period of three years and more of all adults and children implanted in a country.


Asunto(s)
Implantación Coclear/estadística & datos numéricos , Implantes Cocleares/estadística & datos numéricos , Sordera/rehabilitación , Calidad de Vida , Sistema de Registros/estadística & datos numéricos , Adolescente , Adulto , Factores de Edad , Percepción Auditiva , Niño , Preescolar , Educación , Empleo , Estudios de Seguimiento , Francia , Humanos , Lactante , Recién Nacido , Autoevaluación (Psicología) , Inteligibilidad del Habla , Encuestas y Cuestionarios , Factores de Tiempo , Resultado del Tratamiento
5.
Eur Ann Otorhinolaryngol Head Neck Dis ; 137(5): 405-410, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32107171

RESUMEN

OBJECTIVES: The authors present the clinical practice guidelines of the French Society of Oto-Rhino-Laryngology and Head and Neck Surgery (SFORL) concerning the role of the ENT specialist in the management of pediatric obstructive sleep apnea hypopnea syndrome (POSAHS). Part 3 is dedicated to the place of sleep recordings in the diagnosis of POSAHS. METHODS: A multidisciplinary work group was commissioned to carry out a review of the scientific literature on the above topic. Based on the articles retrieved and the group members' individual experience, guidelines were drafted and graded as A, B or C or Expert Opinion by decreasing level of evidence, then reviewed by an editorial group independent of the work group. RESULTS: Sleep recordings are presented according to the American Sleep Disorders Association's classification as type 1, 2, 3 or 4. Their modalities, interpretation, indications, advantages and limitations are detailed.


Asunto(s)
Otolaringología , Apnea Obstructiva del Sueño , Niño , Humanos , Sueño , Apnea Obstructiva del Sueño/diagnóstico , Síndrome , Estados Unidos
6.
Eur Ann Otorhinolaryngol Head Neck Dis ; 137(2): 99-103, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31627971

RESUMEN

IMPORTANCE: Non-steroidal anti-inflammatory drugs (NSAIDs) are known to inhibit chemotaxis, oxidative burst and phagocytosis, bacterial killing in granulocytes as well as inhibiting neutrophil aggregation or degranulation, thereby interfering with the function of lymphocytes. On the other hand, ibuprofen is widely prescribed in pediatrics for its powerful analgesic and antipyretic effects. To our knowledge, no previous publication outlines the relationship between Ibuprofen therapy and an increased risk of intracranial and/or orbital complications of acute fronto-ethmoidal sinusitis in childhood. OBJECTIVE: To look for a relationship between ibuprofen and occurrence of intra-cranial and/or orbital complications of acute fronto-ethmoidal sinusitis in pediatrics. SETTING AND METHODS: The medical charts of patients younger than 18 years admitted into the E.N.T. departments of 4 academic care centers during 2 consecutive years for fronto ethmoidal sinusitis were reviewed retrospectively. The history of ibuprofen intake, the occurrence of complication (orbital or intracranial) as well as the usual demographic data were noted. A statistical analysis was performed in order to ascertain whether a relationship between taking NSAIDs and the onset of an intracranial and/or orbital complication exists. RESULTS: Intake of ibuprofen appeared to be a risk-factor of intracranial complications or associated orbital and intracranial complications of acute fronto-ethmoidal sinusitis in children. Neither gender nor age nor initial pain intensity were statistically related to the onset of complications. CONCLUSION AND RELEVANCE: This retrospective multicenter cohort study appears to suggest that ibuprofen increases the risk of orbital and/or intracranial complications of acute fronto-ethmoidal sinusitis in childhood. Therefore, we recommend not prescribing ibuprofen if one suspects an acute sinusitis in a child or adolescent.


Asunto(s)
Antiinflamatorios no Esteroideos/efectos adversos , Encefalopatías/inducido químicamente , Sinusitis del Etmoides/complicaciones , Sinusitis Frontal/complicaciones , Ibuprofeno/efectos adversos , Enfermedades Orbitales/inducido químicamente , Enfermedad Aguda , Adolescente , Encefalopatías/epidemiología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Enfermedades Orbitales/epidemiología , Estudios Retrospectivos , Factores de Riesgo
7.
Eur Ann Otorhinolaryngol Head Neck Dis ; 137(2): 131-133, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31653460

RESUMEN

INTRODUCTION: Airway injury is a very rare complication of thyroglossal duct cyst surgery in children. The wound is most frequently located at the larynx, due to a confusion between the hyoid bone and the thyroid cartilage. OBSERVATION: This is the first report of a tracheal injury complicating Sistrunk's procedure in a 3 year old child, revealed by respiratory distress. Conservative treatment was suggested, requiring a tracheostomy lasting 49 days, leading to decanulation and complete anatomical and functional recovery. CONCLUSION: This report highlights the specificity of pediatric laryngotracheal anatomy.


Asunto(s)
Complicaciones Intraoperatorias , Quiste Tirogloso/cirugía , Tráquea/lesiones , Preescolar , Femenino , Humanos , Procedimientos Quirúrgicos Otorrinolaringológicos/métodos
8.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(6): 447-454, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31537488

RESUMEN

OBJECTIVES: The role of drug-induced sleep endoscopy (DISE) in the management of obstructive sleep apnea/hypopnea syndrome (OSAHS) is not precisely defined in children. The primary objective of this study was to describe DISE-induced revision of airway obstruction site location and the ensuing treatment changes in children with OSAHS. Secondary objectives were to analyze the correlation of number of obstruction sites found on DISE with apnea-hypopnea index (AHI) and with type of OSAHS. MATERIAL AND METHODS: A retrospective single-center study included 31 children (mean age: 5.5±2.6years) undergoing DISE for management of OSAHS between 2015 and 2018. Revisions of airway obstruction site location and in treatment were noted. The correlation of number of obstruction sites with AHI and with type of OSAHS was analyzed. RESULTS: Airway obstruction site location was reconsidered in 77% of children (n=24), modifying treatment in 45.2% (n=14). There was no significant correlation between number of obstruction sites and AHI: Spearman coefficient 0.20 (P=0.26). Patients with type-III OSAHS did not show more obstruction sites than others: respectively, 2.0 versus 1.8 (P=0.40). CONCLUSION: DISE induced significant revision of the location and change in treatment of obstruction sites in children with OSAHS. Systematic implementation, especially in type-I OSAHS, would allow more precise pre-therapeutic classification and treatment adapted to actual airway obstruction.


Asunto(s)
Anestesia General , Endoscopía/métodos , Apnea Obstructiva del Sueño/cirugía , Niño , Preescolar , Presión de las Vías Aéreas Positiva Contínua , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Masculino , Polisomnografía , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/cirugía , Reoperación , Estudios Retrospectivos , Apnea Obstructiva del Sueño/etiología
9.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(4): 301-305, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31202666

RESUMEN

OBJECTIVES: To present the 2017 Clinical Practice Guidelines of the French Society of Otorhinolaryngology concerning the role of the ENT specialist in the diagnosis of pediatric obstructive sleep apnea-hypopnea syndrome. This article focuses specifically on medical history and physical examination. METHODS: A multidisciplinary work-group drew up a first version of the guidelines, graded according to level of evidence following the GRADE grading system. The final version was obtained by including the suggestions and comments from the editorial group. RESULTS: At the end of the process, guidelines were established and graded regarding the following points: interview and analysis of the various interview scores recommended in the literature; clinical examination with awake upper-airway endoscopy; and indications for referral to non-ENT specialists.


Asunto(s)
Anamnesis , Otorrinolaringólogos , Examen Físico/métodos , Rol del Médico , Apnea Obstructiva del Sueño/diagnóstico , Niño , Endoscopía , Francia , Humanos , Pediatría , Sociedades Médicas , Encuestas y Cuestionarios
10.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(4): 295-299, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31202665

RESUMEN

OBJECTIVES: To present the 2017 Clinical Practice Guidelines of the French Society of Otorhinolaryngology concerning the role of the ENT specialist in the diagnosis of pediatric obstructive sleep apnea-hypopnea syndrome. This manuscript specifically focuses on diagnostic investigations apart from sleep studies. METHODS: A multidisciplinary work-group drew up a first version of the guidelines, graded according to level of evidence following the GRADE grading system. The final version was obtained by including the suggestions and comments from the editorial group. RESULTS: At the end of the process, guidelines were established and graded regarding diagnostic investigations apart from sleep studies, in particular respiratory functional tests, biological markers, and morphologic assessment under induced sleep (drug-induced sleep endoscopy (DISE) and cine-MRI).


Asunto(s)
Otorrinolaringólogos , Rol del Médico , Apnea Obstructiva del Sueño/diagnóstico , Biomarcadores/análisis , Proteína C-Reactiva/análisis , Niño , Endoscopía/métodos , Epinefrina/análisis , Francia , Humanos , Hipnóticos y Sedantes/uso terapéutico , Interleucinas/análisis , Imagen por Resonancia Magnética , Norepinefrina/análisis , Pediatría , Sistema Respiratorio/diagnóstico por imagen , Sueño , Sociedades Médicas , Taurina/análisis , Tomografía Computarizada por Rayos X , Ácido gamma-Aminobutírico/análisis
11.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(4): 235-240, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30880036

RESUMEN

OBJECTIVES: Using respiratory polygraphy (RP) in children for diagnosis of obstructive sleep apnea/hypopnea syndrome (OSAHS) can be challenging in terms of device acceptance and sensor displacement. Automatic analysis of respiratory events has never been evaluated in a pediatric population. The primary objective of this study was to determine the feasibility of pediatric RP in routine ENT department practice. The secondary objective was to evaluate the reliability of the automatic detection of obstructive and central respiratory events in children. METHODS: A single-center retrospective study included 50 children (32 boys, 18 girls; mean age 5.5±2.3years) undergoing overnight RP in an ENT department between January and August 2016 for suspected OSAHS. Manual detection of respiratory events was performed by one ENT specialist experienced in RP interpretation, and compared to automatic analysis. RESULTS: The device was well accepted in 98% of cases. Overall signal quality was>50% in 76% of cases, with average signal quality of 70.8% (86% in patients>3 yrs, 25% in patients<3 yrs, P=0.0013). There was no significant correlation between manual and automatic analyses, except for central apnea (Spearman coefficient 0.43; P=0.0015). One hundred percent of patients presented OSAHS according to automatic detection, compared to 32% according to manual detection (P<0.005). CONCLUSIONS: Pediatric RP is feasible in routine practice in an ENT department, with good acceptance and satisfactory signal quality in children older than 3years. Automatic analysis of respiratory events in children is unreliable, except for central apnea.


Asunto(s)
Polisomnografía , Síndromes de la Apnea del Sueño/diagnóstico , Niño , Preescolar , Estudios de Factibilidad , Femenino , Humanos , Masculino , Estudios Retrospectivos
12.
Eur Ann Otorhinolaryngol Head Neck Dis ; 135(6): 427-431, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30318322

RESUMEN

OBJECTIVES: The authors present the French Society of Oto-Rhino-Laryngology and Head and Neck Surgery (SFORL) clinical practice guidelines concerning the role of otorhinolaryngologists in the management of paediatric obstructive sleep apnoea syndrome (OSAS). This chapter is devoted to the follow-up protocol for children treated for OSAS. METHODS: A multidisciplinary task force was commissioned to carry out a review of the scientific literature on this topic. On the basis of the articles selected and the personal experience of each member of the task force, guidelines were drafted and graded as A, B or C or expert opinion according to a decreasing level of scientific evidence, and were then reviewed by a reading committee, independently of the task force. The final guidelines were established at a consensus meeting. RESULTS: Short-term, medium-term and long-term clinical follow-up and complementary investigations are necessary in view of the risk of residual OSAS, and the risk of recurrence of OSAS related to adenoid and tonsillar regrowth following adenotonsillectomy, the treatment most commonly performed. The modalities of follow-up after surgery, continuous positive airway pressure (CPAP) ventilation, orthodontic treatment, myofascial rehabilitation, and drug therapy are described. The indications for nasal endoscopy and sleep studies as part of follow-up are specified.


Asunto(s)
Continuidad de la Atención al Paciente , Otolaringología , Rol del Médico , Apnea Obstructiva del Sueño/cirugía , Adenoidectomía , Niño , Presión de las Vías Aéreas Positiva Contínua , Endoscopía , Francia , Glucocorticoides/uso terapéutico , Humanos , Técnica de Expansión Palatina , Polisomnografía , Recurrencia , Reoperación , Prevención Secundaria , Tonsilectomía
13.
Int J Pediatr Otorhinolaryngol ; 115: 45-48, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30368391

RESUMEN

Intracranial empyema is a rare but serious complication of sinusitis in children. Myelodysplastic/myeloproliferative syndromes (MMS), including juvenile myelomonocytic leukemia (JMML), can lead to immunosuppression, thus favouring infections. We report the case of a sphenoid sinogenic retro-clival extradural empyema in a 14-year-old female patient associated with JMML. Treatment consisted in an endonasal transphenoidal drainage of the empyema associated with intravenous antibiotherapy. The patient was thereafter enrolled in chemotherapeutic treatment with Azacitidine. The disease progressed to blast phase, indicating bone marrow graft. This is the first reported case of an endocranial complication of bacterial sinusitis associated with MMS in a child.


Asunto(s)
Infecciones Bacterianas/complicaciones , Empiema/etiología , Absceso Epidural/etiología , Leucemia Mielomonocítica Juvenil/complicaciones , Sinusitis/complicaciones , Adolescente , Antibacterianos/uso terapéutico , Infecciones Bacterianas/tratamiento farmacológico , Drenaje , Empiema/terapia , Absceso Epidural/terapia , Femenino , Humanos , Seno Esfenoidal
14.
Eur Ann Otorhinolaryngol Head Neck Dis ; 135(4): 265-268, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29731297

RESUMEN

OBJECTIVE: The authors present the guidelines of the French Society of ENT and Head & Neck Surgery (SFORL) on the role of the ENT physician in childhood obstructive sleep apnea-hypopnea syndrome (OSAHS). This section of the guidelines concerns the roles of the various medical and surgical treatment options. METHOD: A multidisciplinary work-group was entrusted with a review of the scientific literature on the topic. Based on the retrieved articles and the group members' own experience, guidelines were drawn up, then read over by a reading group independent of the work-group. An editorial meeting then produced the final text. RESULTS: Adenotonsillectomy is the reference treatment for childhood OSAHS with adenotonsillar hypertrophy. Respiratory assistance is recommended in children with severe OSAHS without nasal and/or oropharyngeal obstacle, after surgery in case of persistent OSAHS, in case of contraindications to surgery, in complex obstruction related to pharyngolaryngeal or laryngeal pathology or comorbidity, or as an alternative to tracheotomy. Nasal route corticosteroids may be used in childhood OSAHS in with associated nasal obstruction.


Asunto(s)
Apnea Obstructiva del Sueño/terapia , Niño , Humanos , Otolaringología/normas , Rol del Médico
15.
Eur Ann Otorhinolaryngol Head Neck Dis ; 135(4): 269-273, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29759911

RESUMEN

The Société française d'ORL et de chirurgie cervico-faciale clinical practice guidelines concern the management of otitis media with effusion (OME) in children under the age of 12 years. They are based on extensive review of MEDLINE and Cochrane Library publications in English or French from 1996 to 2016 concerning the methods of diagnosis and assessment of otitis media with effusion, as well as the efficacy of tympanostomy tubes and medical and surgical treatments of OME.


Asunto(s)
Otitis Media con Derrame/terapia , Niño , Humanos , Resultado del Tratamiento
16.
Eur Ann Otorhinolaryngol Head Neck Dis ; 135(2): 105-110, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29289487

RESUMEN

There is at present no consensus on the treatment of obstructive Eustachian tube dysfunction. In case of failure of well-conducted drug and pressure therapy, some authors recommend balloon dilation; the present study aimed to assess the efficacy and safety of Eustachian tube balloon dilation. MATERIALS AND METHODS: A single-center retrospective study assessed clinical and tubomanometric results of Eustachian tube balloon dilation, complications and satisfaction in a consecutive series managed between June 2012 and February 2015. Indications were based on clinical and paraclinical signs of obstructive tube dysfunction despite well-conducted medical treatment. RESULTS: Forty-five procedures were performed in 38 patients. Improvement in clinical symptoms was assessed as 88%, 80% and 80% at respectively 2 months, 6 months, and>1 year. Improved function on tubomanometry was observed in 81% of cases. The procedure was well tolerated, with a minor complications rate of only 4%. CONCLUSIONS: The present findings for efficacy, tolerance and safety were comparable to those in the literature, despite first-line failure in all patients. Eustachian tube function normalized in about one-third of cases. Despite these encouraging results, true efficacy remains to be confirmed in prospective studies with higher levels of evidence.


Asunto(s)
Cateterismo/métodos , Enfermedades del Oído/fisiopatología , Enfermedades del Oído/terapia , Trompa Auditiva/fisiopatología , Pruebas Auditivas , Adulto , Dilatación/instrumentación , Dilatación/métodos , Femenino , Estudios de Seguimiento , Pruebas Auditivas/métodos , Humanos , Masculino , Persona de Mediana Edad , Satisfacción del Paciente , Estudios Retrospectivos , Resultado del Tratamiento
17.
Sci Rep ; 7(1): 16783, 2017 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-29196752

RESUMEN

Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC. This comprehensive screening yielded an overall diagnostic rate of 48%, equally distributed between DFNB1 (24%) and the other genes (24%). Pathogenic genotypes were identified in 19 different genes, with a high prevalence of GJB2, STRC, MYO15A, OTOF, TMC1, MYO7A and USH2A. Involvement of an Usher gene was reported in 16% of the genotyped cohort. Four de novo variants were identified. This study highlights the need to develop several molecular approaches for efficient molecular diagnosis of hearing loss, as this is crucial for genetic counselling, audiological rehabilitation and the detection of syndromic forms.


Asunto(s)
Conexinas/genética , Variaciones en el Número de Copia de ADN , Pérdida Auditiva/diagnóstico , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Población Blanca/genética , Estudios de Cohortes , Simulación por Computador , Conexina 26 , Diagnóstico Precoz , Francia , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Pérdida Auditiva/genética , Humanos , Masculino , Mutación , Sensibilidad y Especificidad , Análisis de Secuencia de ADN/métodos
18.
Eur Ann Otorhinolaryngol Head Neck Dis ; 134(6): 373-375, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28365219

RESUMEN

STUDY OBJECTIVE: To evaluate the efficacy of oral melatonin to induce sedation (natural sleep) while measuring auditory brainstem responses (ABR) in children with suspected hearing loss by calculating the ABR success rate with the use of melatonin, the percentage of children in whom sleep was induced by melatonin and the time required to perform complete ABR testing. MATERIAL AND METHODS: Twenty-nine children aged 1 to 6 years were included in this prospective study. ABR testing was performed as a day-case procedure in a single room ensuring suitable sleeping conditions. Five milligrams of melatonin (or 10mg in children over the age of 6 years) were administered orally before electrode positioning. An additional 5 milligrams were administered if the child failed to sleep after 30minutes. RESULTS: ABR was performed with melatonin in 58 ears: complete ABR testing was performed in both ears in 19 children (65%), corresponding to 38 examinations; only one ear was tested in 7 children (24.2%), corresponding to 7 examinations; and ABR testing could not be performed in 3 children (10.3% failure rate). Good quality sleep was obtained in 17 children (59%), brief sleep was obtained in 4 children (14%), who nevertheless remained calm throughout the examination and 8 children (27%) did not fall asleep. The mean sleep-onset time after administration of melatonin was 41minutes with a mean sleep time of 33minutes and a mean examination time of 52minutes after the first dose of melatonin. A complete examination therefore took an average of 93minutes. CONCLUSION: The use of melatonin allowed partial or complete ABR testing in 90% of children. This method is effective, but it requires adapted facilities to receive the child and the child's parents.


Asunto(s)
Sedación Profunda/métodos , Potenciales Evocados Auditivos del Tronco Encefálico , Pérdida Auditiva/diagnóstico , Hipnóticos y Sedantes/administración & dosificación , Melatonina/administración & dosificación , Sueño/efectos de los fármacos , Administración Oral , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Prospectivos , Reproducibilidad de los Resultados , Factores de Tiempo
19.
Clin Otolaryngol ; 42(3): 521-527, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27661064

RESUMEN

OBJECTIVES: To give an insight into why, when and where iatrogenic facial nerve (FN) injuries may occur and to explain how to deal with them in an emergency setting. DESIGN AND SETTING: Multicentre retrospective study in eight tertiary referral hospitals over 17 years. PARTICIPANTS: Twenty patients with partial or total FN injury during surgery for chronic otitis media (COM) were revised. MAIN OUTCOME MEASURES: Indication and type of surgery, experience of the surgeon, intra- and postoperative findings, value of CT scanning, patient management and final FN outcome were recorded. RESULTS: In 12 cases, the nerve was completely transected, but the surgeon was unaware in 11 cases. A minority of cases occurred in academic teaching hospitals. Tympanic segment, second genu and proximal mastoid segments were the sites involved during injury. The FN was not deliberately identified in 18 patients at the time of injury, and nerve monitoring was only applied in one patient. Before revision surgery, CT scanning correctly identified the lesion site in 11 of 12 cases and depicted additional lesions such as damage to the lateral semicircular canal. A greater auricular nerve graft was interposed in 10 cases of total transection and in one partially lesioned nerve: seven of them resulted in an HB III functional outcome. In two of the transected nerves, rerouting and direct end-to-end anastomosis was applied. A simple FN decompression was used in four cases of superficially traumatised nerves. CONCLUSIONS: We suggest checklists for preoperative, intraoperative and postoperative management to prevent and treat iatrogenic FN injury during COM surgery.


Asunto(s)
Traumatismos del Nervio Facial/etiología , Complicaciones Intraoperatorias , Mastoidectomía/efectos adversos , Otitis Media/cirugía , Adolescente , Adulto , Anciano , Niño , Enfermedad Crónica , Europa (Continente)/epidemiología , Traumatismos del Nervio Facial/diagnóstico , Traumatismos del Nervio Facial/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Enfermedad Iatrogénica , Incidencia , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto Joven
20.
Eur Arch Otorhinolaryngol ; 274(4): 1835-1851, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27475796

RESUMEN

The objective of this study is to evaluate the safety and efficacy of a new transcutaneous bone-conduction implant (BCI BB) in patients with conductive and mixed hearing loss or with single-sided deafness (SSD), 1 year after surgical implantation. The study design is multicentric prospective, intra-subject measurements. Each subject is his/her own control. The setting is nine university hospitals: 7 French and 2 Belgian. Sixteen subjects with conductive or mixed hearing loss with bone-conduction hearing thresholds under the upper limit of 45 dB HL for each frequency from 500 to 4000 Hz, and 12 subjects with SSD (contralateral hearing within normal range) were enrolled in the study. All subjects were older than 18 years. The intervention is rehabilitative. The main outcome measure is the evaluation of skin safety, audiological measurements, benefit, and satisfaction questionnaires with a 1-year follow up. Skin safety was rated as good or very good. For the mixed or conductive hearing loss groups, the average functional gain (at 500 Hz, 1, 2, 4 kHz) was 26.1 dB HL (SD 13.7), and mean percentage of speech recognition in quiet at 65 dB was 95 % (vs 74 % unaided). In 5/6 SSD subjects, values of SRT in noise were lower with BB. Questionnaires revealed patient benefit and satisfaction. The transcutaneous BCI is very well tolerated at 1-year follow up, improves audiometric thresholds and intelligibility for speech in quiet and noise, and gives satisfaction to both patients with mixed and conductive hearing loss and patients with SSD.


Asunto(s)
Conducción Ósea , Pérdida Auditiva Conductiva/cirugía , Satisfacción del Paciente , Prótesis e Implantes , Adulto , Audiometría , Femenino , Audífonos , Perdida Auditiva Conductiva-Sensorineural Mixta/cirugía , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Percepción del Habla , Encuestas y Cuestionarios , Resultado del Tratamiento
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