Advances in oto-rhino-laryngology (Prog Oto Rhino Laryngol)

Publications in this journal

• Article: Basic medical genetics for the otolaryngologist.

  Raye L Alford, Sandra A Darilek
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  ABSTRACT: Medical genetics is becoming an increasingly important part of the practice of medicine across every medical specialty. For otolaryngologists, understanding the genetic basis of hearing loss, tumors of the head and neck and other otolaryngologic conditions is crucial to effectively incorporating medical genetics information, tools and services into patient care. A clinician who understands the genetic basis of disease, mechanisms of genetic mutation and patterns of inheritance will be positioned to diagnose genetic conditions, interpret genetic test results, assess genetic risks for relatives of patients and refer patients and families for medical genetics and other specialty care. The family medical history is an indispensible tool that, when used properly, can aid in the recognition of genetic susceptibilities within a family and offer opportunities for early intervention. However, obtaining a family medical history is not as simple as it might seem. Knowing what questions to ask, how to properly draw a pedigree and how to recognize patterns of inheritance are critical to obtaining an informative family medical history and using the information in a clinical setting. This article provides a brief introduction to basic medical genetics that includes descriptions of the human genome, the genetic basis of human disease and patterns of inheritance, and a primer for collecting family medical history information.
  Advances in oto-rhino-laryngology 01/2011; 70:10-7.
• Article: Referring patients for a medical genetics consultation and genetic counseling.

  Reid Sutton
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  ABSTRACT: Clinical geneticists and genetic counselors provide diagnosis and counseling for genetic disorders affecting every organ system and every age group. Genetic counselors are more focused on informing patients and families about the inheritance of a genetic disorder and providing recurrence risk counseling, support and information about a diagnosis and reproductive options. Medical geneticists may also share some of these roles in addition to establishing a diagnosis and providing medical management. Medical Geneticists receive training in ACGME-accredited residency programs and are certified by the American Board of Medical Genetics. Genetic counseling is a masters degree program and certification is granted by the American Board of Genetic Counseling. When a patient/family is referred to a Clinical Geneticist, they may expect a thorough evaluation in an effort to establish a diagnosis that may provide information about etiology, prognosis, therapy and recurrence risk.
  Advances in oto-rhino-laryngology 01/2011; 70:25-7.
• Article: Chronic rhinosinusitis.

  Xinjing Wang, Garry R Cutting
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  ABSTRACT: Chronic rhinosinusitis (CRS) is a persistent inflammatory condition involving the nasal and paranasal mucosa. It is the most prevalent chronic condition in the United States. Sinonasal inflammation is also a common clinical presentation in a variety of systemic conditions. The etiology of CRS is complicated as a variety of extrinsic and intrinsic factors are frequently involved. Extrinsic factors include microbial infections that trigger abnormal immune responses. Intrinsic factors may predispose an individual to infection or exaggerated inflammatory responses. Several systemic conditions such as cystic fibrosis (CF), primary ciliary dyskinesia (PCD), asthma, immunohyper-responsiveness, and immunodeficiencies illustrate the role of genetic abnormalities in the development of CRS. Both common and rare genetic variants have been found in an association with CRS. A role for genetic factors is also supported by the demonstration of CRS clustering in families. Although the majority of CRS cases are considered to be idiopathic, the pathological evidence suggests that the chronic condition could be an overlapped presentation of multiple underlying mechanisms. Systemic conditions may have an impact on the incidence, severity, prognosis, or treatment of patients with CRS. Evaluation for underlying conditions may help the otolaryngologist manage the symptoms of CRS and optimize therapy.
  Advances in oto-rhino-laryngology 01/2011; 70:114-21.
• Article: Genetics of vestibulopathies.

  Joanna C Jen
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  ABSTRACT: This review focuses on recent advances in the genetics of familial vestibular disorders including benign recurrent vertigo, bilateral vestibulopathy, and familial Meniere's disease. To date, no genetic causes have been identified in these vestibular conditions. This limited progress has been attributed to the subtle phenotypes, requirement for sophisticated vestibular testing, likely complex nature of these conditions, lack of animal models and reliance on patient history with a paucity of objective diagnostic criteria. Studying vestibular disorders in carefully characterized multiplex families will provide us genetic clues to expand our knowledge of vestibular development, degeneration, structure and function to help us improve the diagnosis and develop effective treatment of vestibulopathies.
  Advances in oto-rhino-laryngology 01/2011; 70:130-4.
• Article: Genetics of otitis media.

  J Christopher Post
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  ABSTRACT: There is a growing body of evidence, both from animal and human studies, that host genetic factors can influence the risk of developing otitis media (OM). The role of genetics in OM has been elucidated through studies with monozygotic and dizygotic twins, analyses linking genetic polymorphisms to OM susceptibility, and genome scans. Several twin studies have shown a strong genetic component to middle ear effusion risk, with the estimate of the role of heredity for the proportion of time with middle ear effusions being around 0.7. Genetic polymorphisms in plasminogen activator inhibitor-1, interleukin-6, tumor necrosis factor-α, human leukocyte antigen, and mannose-binding lectin have been variously linked with OM and upper respiratory infection susceptibility. Several genome linkage studies have identified chromosomal regions associated with chronic OM, including 3p, 10q, 10q22.3, 17q12 and 19q. A number of candidate genes are associated with these sites. Given the current state of understanding of the role of genetics in OM, a family history of OM should be ascertained for all patients. Children with a strong family history of OM should be considered as candidates for a more aggressive early treatment of OM, particularly if other risk factors are present. These children may be earlier candidates for the placement of tympanostomy tubes and/or adenoidectomy. Existing data do not support routine genetic testing to determine a child's susceptibility to OM; however, given the advances in whole genome sequencing, such testing may someday play a role in the management of the OM patient.
  Advances in oto-rhino-laryngology 01/2011; 70:135-40.
• Article: Historical background of bone conduction hearing devices and bone conduction hearing aids.

  Albert Mudry, Anders Tjellström
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  ABSTRACT: During the last 20 years, bone-anchored hearing aids (Baha(®)) became a familiar solution in the treatment of some types of hearing loss. The aim of this chapter is to present the different historical steps which have permitted the production of this new bone conduction hearing device. The recognition of bone conduction hearing is old and was known at least in Antiquity. During the Renaissance, Girolamo Cardano demonstrated a method by which sound may be transmitted to the ear by means of a rod or the shaft of a spear held between one's teeth: this was the beginning of teeth stimulators to improve hearing, firstly in connection with a musical instrument and then, in the second part of the 19th century, with the speaker. The development of the carbon microphone at the beginning of the 20th century allowed the construction of the bone conduction vibrator placed on the mastoid area, notably supported by eyeglasses since the 1950s. Confronted by various problems, and notably the loss of part of sound in the soft tissue of the external mastoid, the idea to implant the vibrator into the mastoid bone was developed in Göteborg, and the first Baha was implanted in 1977 by Anders Tjellström. From that date, various improvements allowed the development of the actual Baha. These different steps are presented in this study, supported by original documentation.
  Advances in oto-rhino-laryngology 01/2011; 71:1-9.
• Article: Partially implantable bone conduction hearing aids without a percutaneous abutment (Otomag): technique and preliminary clinical results.

  Ralf Siegert
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  ABSTRACT: Patients with air-bone gaps who cannot be corrected successfully by tympanoplasty or with mixed hearing loss may be treated with bone conduction hearing aids. Their disadvantages are the obvious external fixation components or the biological and psychosocial problems of open implants. We have developed new partially implantable bone conduction hearing aid without a percutaneous abutment and have been using them clinically for 4 years. The principle of these bone conduction hearing aids is a magnetic coupling and acoustic transmission between implanted and external magnets. The goal of this study was to evaluate clinical and audiological results. Magnets are implanted into shallow bone beds in a one step procedure. The skin above the magnets is also reduced to a thickness of 4-5 mm, which reduces the attenuation to less than 10 dB compared to direct bone stimulation. Over 100 patients have been implanted in the last 5 years. Except for temporary pressure marks in 4%, which healed after careful shimming of the external base plate, there were no other complications. The holding strength of the external components is equivalent to partially implantable hearing aids and cochlea implants and the hearing improvement is similar to other bone conduction hearing aids. We have found the comfort and safety of this system is significantly improved compared to conventional or percutaneous bone conduction hearing aids.
  Advances in oto-rhino-laryngology 01/2011; 71:41-6.
• Article: Paediatric Baha.

  Ann-Louise McDermott, Patrick Sheehan
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  ABSTRACT: Bone-anchored hearing aids (Baha(®)) are a well-established and readily available option for aural rehabilitation for children. Audiological outcomes and paediatric quality of life results have added to the evidence of benefit of Baha. Recent years have seen an increase in the number of centres worldwide providing a Baha service for children. Indications for Baha have evolved. The paediatric population present a variety of challenges for clinicians who undertake Baha surgery. Complex medical conditions, social and educational issues, and trauma are such examples. The surgical techniques are now varied and the timing of surgery varies between surgeons and Baha centres. Fortunately, serious complications are very rare, and to date there are no more than six significant such case reports in the literature. Careful patient selection and a multidisciplinary team approach with an understanding of the problems that present in children should result in a successful outcome for the child.
  Advances in oto-rhino-laryngology 01/2011; 71:56-62.
• Article: Multiple endocrine neoplasia: types 1 and 2.

  Deborah J Marsh, Oliver Gimm
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  ABSTRACT: Multiple endocrine neoplasia type 1 (MEN 1) and type 2 (MEN 2) are autosomal-dominantly inherited syndromes where highly penetrant germline mutations predispose patients to the development of tumours in hormone-secreting cells. In the case of MEN 1, loss-of-function germline mutations in the tumour suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumours, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumours. In the case of MEN 2, gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumours. Offering RET testing is best practice for the clinical management of patients at-risk of MEN 2, and MEN 2 has become a classic model for the integration of molecular medicine into patient care. Prophylactic thyroidectomy in an asymptomatic RET mutation carrier to address the risk of developing MTC can prevent or cure this malignancy. No similar preventative strategies can be employed to prevent or cure MEN 1-associated tumours. Genetic testing for MEN 1 is therefore both more complex due to a general lack of mutational hotspots, and the benefit to patients is less straight forward. While a number of genotype-phenotype correlations exist in MEN 2, providing further rationale for performing genetic testing in this condition, these correlations are absent in MEN 1. This review summarises our current knowledge of these two syndromes with emphasis on those aspects with specific relevance to the otorhinolaryngologist.
  Advances in oto-rhino-laryngology 01/2011; 70:84-90.
• Article: Nonsyndromic hereditary hearing loss.

  Raye L Alford
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  ABSTRACT: The etiology of hereditary hearing loss is extraordinarily complex. More than 400 genetic syndromes are associated with hearing loss and more than 140 genetic loci associated with nonsyndromic hearing loss have been mapped, with more than 60 genes identified to date. Hereditary hearing loss can be inherited as an autosomal dominant, autosomal recessive, X-linked or mitochondrial (maternally inherited) condition. The overlapping audiologic phenotypes associated with many genes and the variability and/or reduced, sometimes age-related, penetrance of some phenotypic features of syndromic hearing loss can complicate the distinction between various genetic causes of nonsyndromic hearing loss and between nonsyndromic and syndromic hearing loss, especially in childhood. Testing for individual genes associated with nonsyndromic hearing loss, beyond GJB2 which encodes Connexin 26, can become expensive and, without specific phenotypic features to guide selection of genes for testing (such as enlarged vestibular aqueducts, low frequency hearing loss or auditory neuropathy), it is not likely to yield an etiology. Advances in DNA sequencing and the rapid decline in the cost of sequencing presage the availability of testing that can identify the etiology in the majority of cases of genetic hearing loss. However, until comprehensive genetic testing of hearing loss is clinically available and cost-effective, thorough phenotypic and audiologic evaluation and careful documentation of risk factors, infectious exposures and patient and family medical history will continue to be important to efforts directed toward etiologic diagnosis. The complexities associated with interpretation of genetic test results, genetic counseling and genetic risk assessment make consultation with medical geneticists important for many patients.
  Advances in oto-rhino-laryngology 01/2011; 70:37-42.
• Article: Otosclerosis.

  Megan Ealy, Richard J H Smith
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  ABSTRACT: Otosclerosis is one of the more common forms of adult-onset hearing loss with a prevalence of 0.3-0.4% in Caucasians. It is typically characterized by a conductive hearing loss due to labyrinthine endochondral sclerosis that upon stapedio-vestibular joint invasion results in loss of free motion of the stapes. Its etiology remains poorly understood with both environmental factors and genetic causes implicated in its development. Several environmental influences have been studied and numerous genomic loci have been mapped in families segregating autosomal-dominant otosclerosis. Population-based studies have also identified associations with several genes. These advances are improving our understanding of this complex disease.
  Advances in oto-rhino-laryngology 01/2011; 70:122-9.
• Article: Audiological results with Baha in conductive and mixed hearing loss.

  Flurin Pfiffner, Marco-Domenico Caversaccio, Martin Kompis
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  ABSTRACT: The level of improvement in the audiological results of Baha(®) users mainly depends on the patient's preoperative hearing thresholds and the type of Baha sound processor used. This investigation shows correlations between the preoperative hearing threshold and postoperative aided thresholds and audiological results in speech understanding in quiet of 84 Baha users with unilateral conductive hearing loss, bilateral conductive hearing loss and bilateral mixed hearing loss. Secondly, speech understanding in noise of 26 Baha users with different Baha sound processors (Compact, Divino, and BP100) is investigated. Linear regression between aided sound field thresholds and bone conduction (BC) thresholds of the better ear shows highest correlation coefficients and the steepest slope. Differences between better BC thresholds and aided sound field thresholds are smallest for mid-frequencies (1 and 2 kHz) and become larger at 0.5 and 4 kHz. For Baha users, the gain in speech recognition in quiet can be expected to lie in the order of magnitude of the gain in their hearing threshold. Compared to its predecessor sound processors Baha(®) Compact and Baha(®) Divino, Baha(®) BP100 improves speech understanding in noise significantly by +0.9 to +4.6 dB signal-to-noise ratio, depending on the setting and the use of directional microphone. For Baha users with unilateral and bilateral conductive hearing loss and bilateral mixed hearing loss, audiological results in aided sound field thresholds can be estimated with the better BC hearing threshold. The benefit in speech understanding in quiet can be expected to be similar to the gain in their sound field hearing threshold. The most recent technology of Baha sound processor improves speech understanding in noise by an order of magnitude that is well perceived by users and which can be very useful in everyday life.
  Advances in oto-rhino-laryngology 01/2011; 71:73-83.
• Article: Acoustic and physiologic aspects of bone conduction hearing.

  Stefan Stenfelt
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  ABSTRACT: Bone conduction (BC) is the way sound energy is transmitted by the skull bones to the cochlea causing a sound perception. Even if the BC sound transmission involves several pathways including sound pressure induced in the ear canal, inertial forces acting on the middle ear ossicles and cochlear fluids, alteration of the cochlear space, and pressure transmission through the 3rd window of the cochlea, the BC sound ultimately produces a wave motion on the basilar membrane similar to that of air-conducted sound. The efficiency of the BC stimulation is largely dependent on the skull bone where the skull acts as a rigid body at low frequencies and incorporates different types of wave transmission at higher frequencies. The interaural stimulation difference is determined by the difference between contralateral and ipsilateral BC sound transmission: the transcranial BC sound transmission. To benefit from binaural processing, the transcranial transmission should be low, while the same should be high when using BC hearing aids for unilateral deaf subjects. By appropriately positioning the stimulation, high or low transcranial transmission can be achieved.
  Advances in oto-rhino-laryngology 01/2011; 71:10-21.
• Article: The future of bone conduction hearing devices.

  Bo Håkansson
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  ABSTRACT: The bone-anchored hearing aid (Baha) is today an important rehabilitation alternative for patients with mixed and conductive hearing loss and where air conduction devices should not or cannot be used. Some patients with single-sided deafness are also successfully treated with a Baha. Despite successful treatment of these patient groups, there is always a need for future improvements. First, it is well known that Baha are associated with some drawbacks related to skin infections, accidental or spontaneous loss of the bone implant, and patient refusal for treatment due to stigma. Therefore, in this chapter some alternatives to the Baha which have the potential to reduce these drawbacks are generally discussed. They all have the common feature that they do not need a permanent skin penetration. The alternatives to the Baha are: (1) improved conventional bone conduction (BC) devices, (2) devices with an implanted transducer referred to as BC implants (BCI), (3) dental-attached devices. Disregarding skin complication issues, direct BC devices like the Baha, have a superior advantage of better sound quality in the high-frequency range. How these devices might be improved in the future is also discussed. Finally, some recent advances in the development of a new BCI system will be presented, where the implanted transducer uses a non-screw attachment to a hollow recess of the temporal bone. Some preclinical studies have been performed showing that a BCI system can provide similar or higher output as compared with a Baha.
  Advances in oto-rhino-laryngology 01/2011; 71:140-52.
• Article: Complications of bone-anchored hearing devices.

  Jack J Wazen, Benjamin Wycherly, Julie Daugherty
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  ABSTRACT: Complications of bone-anchored hearing devices occur with both soft tissue and bone. Soft tissue complications are much more common and most often involve irritation of the skin surrounding the implant. Other complications include: skin flap necrosis, wound dehiscence, bleeding or hematoma formation, and persistent pain. Bone complications are classified as either early or late. Early complications are due to failure of osseointegration, while late complications are usually the result of either chronic infection or trauma. Pediatric patients are a unique group of implant patients and are more likely to have complications of both soft tissue and bone. Most complications can be managed in the office with topical therapy and wound care, although revision surgery may be required in extensive skin overgrowth cases. Proper patient selection, meticulous surgical technique, and patient hygiene around the implant are the most critical aspects in minimizing complications in patients with osseointegrated implants.
  Advances in oto-rhino-laryngology 01/2011; 71:63-72.
• Article: Hereditary hearing loss with thyroid abnormalities.

  Byung Yoon Choi, Julie Muskett, Kelly A King, Christopher K Zalewski, Thomas Shawker, James C Reynolds, John A Butman, Carmen C Brewer, Andrew K Stewart, Seth L Alper, Andrew J Griffith
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  ABSTRACT: Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the most common hereditary causes of deafness. It is characterized by autosomal-recessive inheritance of sensorineural hearing loss, enlarged vestibular aqueducts (EVA), and an iodide organification defect with or without goiter. The diagnosis is confirmed by detection of two mutant alleles of SLC26A4 in a patient with EVA. The perchlorate discharge test can detect the underlying thyroid biochemical defect and is useful for the evaluation of goiter or for the clinical diagnosis of PDS in a patient with a non-diagnostic SLC26A4 genotype. SLC26A4 encodes the pendrin polypeptide, an anion exchanger that, in recombinant expression systems, transports chloride, bicarbonate, and iodide. Investigation of pendrin function in the inner ear has been facilitated by the Slc26a4(Δ) (knockout) mouse model, but the exact mechanism of its hearing loss remains unclear, as does pendrin's principal transport function in the inner ear. Treatment of PDS is focused upon rehabilitation of hearing loss, and surveillance and management of goiter and, less commonly, hypothyroidism.
  Advances in oto-rhino-laryngology 01/2011; 70:43-9.
• Article: Usher syndrome: hearing loss with vision loss.

  Thomas B Friedman, Julie M Schultz, Zubair M Ahmed, Ekaterini T Tsilou, Carmen C Brewer
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  ABSTRACT: Usher syndrome (USH) is a clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. A minimum test battery is described as well as additional clinical evaluations that would provide comprehensive testing of hearing, vestibular function, and visual function in USH patients. USH is also genetically heterogeneous. At least nine genes have been identified with mutations that can cause USH. The proteins encoded by these genes are thought to interact with one another to form a network in the sensory cells of the inner ear and retina.
  Advances in oto-rhino-laryngology 01/2011; 70:56-65.
• Article: Hereditary paragangliomas.

  Margarita Raygada, Barbara Pasini, Constantine A Stratakis
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  ABSTRACT: Paragangliomas (PGL) and pheochromocytomas (PCC) are rare, usually benign tumors that originate from the neuroendocrine tissue along the paravertebral axis. Up to 35% of these tumors may be hereditary; they are associated with germline mutations in genes encoding subunits of the succinate dehydrogenase (SDH) enzyme complex in the context of the familial PGL syndromes, PGL1, 3 and 4 caused by mutations in the SDHD,SDHC and SDHB genes, respectively. Another familial PGL syndrome, PGL2, is caused by mutations in SDHAF2/SDH5, which encodes for a molecule that is an accessory to the function of the SDH enzyme and its SDHA subunit. Less frequently, mutations in the genes responsible for Von Hippel Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN2), and neurofibromatosis type 1 (NF1) are also found in patients with hereditary PGL and PCC. Recently mutations were found in the SDHA subunit in a limited number of patients with PGL and/or PCC. The SDHB, SDHC and SDHD gene mutations (but not SDHA) can also be found in patients with PGL and/or PCC and gastrointestinal stromal tumors (GISTs), also known as the Carney-Stratakis syndrome; SDHB mutations, in particular, may also predispose to thyroid and renal cancer, and possibly other tumors. A new gene was recently found to predispose to PGL and/or PCC when mutated is TMEM127. In this text, we provide an overview of the genetics of PGLs and related conditions with an emphasis on genetic risk assessment, prevention, and prognosis.
  Advances in oto-rhino-laryngology 01/2011; 70:99-106.
• Article: Bone-anchored devices in single-sided deafness.

  C M Stewart, J H Clark, J K Niparko
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  ABSTRACT: Single sided deafness (SSD) implies sensorineural hearing loss in one ear with normal contralateral hearing function. Traditionally, SSD patients have been overlooked due to a belief that the preserved functioning of the contralateral ear compensates for the nonhearing side. SSD patients however experience multiple audiological difficulties, particularly when the sound source is situated on the non-hearing side or in the presence of competing sounds. Through reviewing current literature, we describe the role of bone-anchored devices (Baha) in the management of SSD patients. Recent publications for Baha in SSD have demonstrated consistent objective and subjective improvement in audiologic metrics when compared to unaided conditions. There is also evidence of benefit provided by Baha by the Abbreviated Profile of Hearing Aid Benefit, in global measures of ease of communication, reverberation, and background noise, but not typically in aversiveness to sounds. Interestingly, despite some patients gaining minimal objective or subjective benefits, the majority of these patients still report improved quality of life and would recommend the procedure. Despite increasing evidence for the role of Baha in the management of SSD in the literature, much of these data are based on older technology. Further reports should specify the processor type used and the etiology of the hearing loss to ensure accuracy of future data.
  Advances in oto-rhino-laryngology 01/2011; 71:92-102.
• Article: An overview of different systems: the bone-anchored hearing aid.

  Catharina A J Dun, Hubert T Faber, Maarten J F de Wolf, Cor W R J Cremers, Myrthe K S Hol
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  ABSTRACT: In the past 30 years, a large amount of clinical and audiological research on bone conduction hearing devices has been performed. In this review, we give a brief history of the developments in indications, surgical techniques and sound processors with respect to implantable bone conduction devices like the bone-anchored hearing aid or Baha. Starting with the use of Baha in patients with bilateral conductive or mixed hearing loss (HL), the indications for such devices have been extended to patients with unilateral HL, children and moderate mentally retarded patients. Bilateral fitting has been shown to be beneficial in restoring binaural hearing in patients with bilateral acquired or congenital conductive HL. In addition, the surgical techniques used to implant the titanium fixture for Baha application have been modified and further developed to reach two main goals: (a) optimal osseointegration, and (b) preparation of the implant site to minimize the occurrence of soft tissue reactions. Currently, the most used techniques are the pedicled skin flap, dermatome and linear incision techniques. Several generations of the Baha(®) sound processor have been developed by Cochlear(TM) to provide sufficient amplification in different hearing situations. Improvements in sound quality, aesthetics and handling have been major points of interest. The Baha sound processors most often used today are the Baha(®) Divino, the Baha(®) Intenso and the Baha(®) Cordelle. Recently, the more flexible Baha(®) BP100 sound processor was launched.
  Advances in oto-rhino-laryngology 01/2011; 71:22-31.