Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta: a follow-up study.

OBJECTIVE: This prospective study involved a longitudinal analysis of the progression of hearing thresholds in patients with osteogenesis imperfecta. METHODS: Audiometric results from 36 osteogenesis imperfecta patients (age range, 6-79 years) were compared between two test times with an average interval of 4 years. Audiometric evaluation included acoustic admittance measurements, acoustic stapedial reflex measurements, pure tone audiometry and otoacoustic emissions testing. RESULTS: Air conduction pure tone average, corrected for sex and age, and bone conduction pure tone average increased significantly in the study population (p < 0.05 and p < 0.001, respectively). In 14.3 per cent of the evaluated ears, an alteration in type and/or severity of hearing loss was observed. CONCLUSION: After an average time interval of four years, significant changes in hearing status occurred in a population of osteogenesis imperfecta patients. These findings highlight the importance of regular audiological follow up in osteogenesis imperfecta patients, including audiometry, and measurements of acoustic admittance, acoustic stapedial reflexes and otoacoustic emissions.

Hearing loss in Waardenburg syndrome: a systematic review.

Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL) and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype and genotype. The auditory phenotype is inconsistently reported among the different Waardenburg types and causal genes, urging the need for an up-to-date literature overview on this particular topic. We performed a systematic review in search for articles describing auditory features in WS patients along with the associated genotype. Prevalences of HL were calculated and correlated with the different types and genes of WS. Seventy-three articles were included, describing 417 individual patients. HL was found in 71.0% and was predominantly bilateral and sensorineural. Prevalence of HL among the different clinical types significantly differed (WS1: 52.3%, WS2: 91.6%, WS3: 57.1%, WS4: 83.5%). Mutations in SOX10 (96.5%), MITF (89.6%) and SNAI2 (100%) are more frequently associated with hearing impairment than other mutations. Of interest, the distinct disease-causing genes are able to better predict the auditory phenotype compared with different clinical types of WS. Consequently, it is important to confirm the clinical diagnosis of WS with molecular analysis in order to optimally inform patients about the risk of HL.

A pilot cost-of-illness study on long-term complications/sequelae of AOM.

OBJECTIVES: Acute otitis media (AOM) commonly affects young children and occasionally results in serious complications/sequelae. This pilot cost-of-illness study aimed to assess the economic burden of long-term AOM complications/sequelae in Belgium, and to establish a thorough methodology for a larger study. METHODOLOGY: We retrospectively reviewed charts of patients aged 10-20 years with long-term complications/sequelae considered to be AOM-related, and > or = 8 years of follow-up. From a list of 215 eligible patients, we selected 25 patients representing each of seven categories of complications/sequelae. RESULTS: Included patients had a mean age of 12.9 years; nine had chronic suppurative otitis media with cholesteatoma; six sensorineural hearing loss; six chronic perforation of the tympanic membrane; and one each with conductive hearing loss, facial paralysis, neurological impairment after intracranial complications, and complications of surgery. During 8-15 years of follow-up, the most common complications were hearing loss, chronic otitis media (OM), and cholesteatoma. These generally occurred > 5 years after the first AOM event, although chronic OM occurred after a mean time of 3.3 years. Yearly public health care payer (PHCP) costs ranged from Euro 119 to Euro 7957 per patient, and were highest for patients with sensorineural hearing loss. Yearly costs to the patients ranged from Euro 7 to Euro 289 per patient, and were also highest for patients with sensorineural hearing loss. CONCLUSIONS: Although complications/sequelae of AOM are rare, they can result in substantial costs. The applied methodology should be feasible for a larger study, with some minor adjustments.

Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart.

OBJECTIVE: Most industrialized countries have introduced some form of universal newborn hearing screening program. Both identification and rehabilitation of hearing loss in newborns have evolved to an acceptable standard and the need for a standardized etiological protocol is emerging. METHODS: Extensive literature search to determine which investigations can help identifying the cause of congenital hearing loss and how to limit extensive testing in these children by taking into account the most prevalent causes. FINDINGS: A stepwise approach to detect the cause of hearing loss in children with congenital sensorineural hearing loss was developed. CONCLUSION: In general it is advised to first rule out Cx26/Cx30 and infectious causes (cytomegalovirus and, if indicated, toxoplasmosis and rubella), and to preserve more extensive investigations for those children in whom these causes do not explain the hearing loss.

Cochlear implantation in 3 adults with auditory neuropathy/auditory dys-synchrony.

We describe 3 adult patients with auditory neuropathy/auditory dys-synchrony (AN/AD) who underwent cochlear implantation. All patients had absent or poorly formed auditory brainstem responses (ABRs) in combination with preserved otoacoustic emissions (OAEs). They exhibited various aetiologies and a large variation in clinical features known to be consistent with AN/AD. Cochlear implantation was successful in 2 out of 3 cases. We conclude that AN/AD implantee candidates should be counselled with care.

Unilateral semicircular canal aplasia in Goldenhar's syndrome.

A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism.

[Vaccination against acute otitis media]. / Vaccinatie tegen otitis media acuta.

Acute otitis media (AOM) is the most frequent bacterial infection in childhood. Because of the high morbidity, the costs of AOM and growing concern about increasing resistance of pneumococci, the most common bacterial cause of AOM, prevention of AOM is important. Vaccination with the recently developed pneumococcal conjugate vaccines leads to a reduction in the number of AOM cases caused by the serotypes present in the vaccine, but the reduction in overall AOM incidence is below 10%. In particular the children with recurrent episodes of AOM may benefit more from these pneumococcal conjugate vaccines.

Intratemporal and intracranial complications of acute suppurative otitis media in children: renewed interest.

In recent years, a rise in the incidence of intratemporal and intracranial complications of acute otitis media (AOM) has been mentioned in the literature. Lack of a well-developed immune system and difficulties in diagnosing AOM, can account for part of the rise in the incidence of complications of purulent middle ear infections in young children. Antibiotic treatment of AOM is certainly not an absolute safeguard against the development of complications. Antibiotic therapy may have a masking effect on significant signs and symptoms of complications, causing delay in diagnosis. Myringotomy, especially in young children, should not be forgotten for drainage and to provide material for culture. Increased virulence of the causative pathogens cannot be ruled out, but to date there is no evidence suggesting it. We have to maintain a high level of clinical awareness. If there is insufficient improvement of the patient with the appropriate conservative treatment, radioimaging followed by the necessary surgical procedures should be performed.

The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings.

The temporal bone CT examination of a 16-year-old female patient with the LADD syndrome or Levy-Hollister syndrome showed multiple bilateral middle as well as inner ear malformations. Ossicular chain anomalies were seen, especially of the incus and stapes. The oval window was very narrow to absent. Both cochleas were hypoplastic and showed modiolar deficiency. A common cavity between the vestibule and lateral semicircular canal was bilaterally present.

The use of two pedicled skin flaps in the surgical treatment of acquired atresia of the outer ear canal.

Surgical treatment of acquired atresia of the outer ear canal remains in some cases troublesome. Based on previous experience, we have refined the existing surgical technique to obtain better results. In four patients we used two pedicled skin flaps for the treatment of total mature post-inflammatory atresia of the outer ear canal. We raised two well-vascularized pedicled skin flaps with the distal 1.5-2 cm thinned to the level of a full-thickness skin graft. All patients showed complete primary healing with stable coverage and near to complete air-bone gap closure.

Value of computed tomography of the temporal bone in acute otomastoiditis.

In this study we report our experience with 24 patients with acute mastoiditis treated at the University Hospital in Ghent, Belgium. The most common presenting signs and symptoms of acute mastoiditis were an abnormal tympanic membrane (21/24), otorrhea (17/24) and earache (13/24). Postauricular edema and erythema with protrusion of the ear, often used as a diagnostic criterion, was present in only 3 patients. Demineralisation of the trabeculae was the most frequent radiological finding (13/24). Based on CT findings a distinction was made between two groups: acute incipient mastoiditis (13/24) and acute coalescent mastoiditis (5/24). Thirteen patients recovered with conservative therapy consisting of IV antibiotics and early myringotomy with or without placement of a ventilation tube. Mastoidectomy was required in 11 patients. Nine patients presented with a complication of infection extending beyond the mastoid compartment. The results are discussed and the value of CT scanning as a diagnostic tool and decisive element in the choice of therapy is analysed.

Multiple primary malignant tumors in patients with head and neck cancer: results of a prospective study and future perspectives.

Multiple primary tumors are a known phenomenon in head and neck cancer. They are partially responsible for the limited improvement in survival of head and neck cancer during the past 20 years. Only a few prospective data have been published about the incidence of metachronous tumors. The authors prospectively studied 127 patients with squamous cell carcinoma of the head and neck. The overall incidence of second primary tumors was 13.5% (simultaneously, 3%; synchronously, 5.5%; and metachronously, 8%). More than 90% of the recurrences of the first primary tumor occurred within the first 2 years following primary treatment, but the second primary tumors continued to occur gradually in the course of follow-up. Most of the second primary tumors were discovered because the patients developed symptoms (14/17). Survival after detection of the second primary tumor was poor. The development of a second primary tumor was of equivalent prognosis to a recurrence of the primary tumor. Future directives include the development of more adequate screening methods. Identification of potential early markers for the development of a squamous cell carcinoma at the level of the mucosa at risk and in serum could be of value for the early detection of individuals at risk.

Clinical characteristics and diagnostic delay of head and neck cancer: results from a prospective study in Belgium.

A prospective study of head and neck cancer patients was started to gather information about topographic and clinical characteristics of head and neck cancer, alcohol and nicotine abuse and the delay in diagnosis. More than half of the patients consulted our institution with an advanced stage of disease. As was expected, we found a positive association between the size of the tumour and the clinical stage of the neck. Concerning nicotine and alcohol abuse, our results support the hypothesis that tobacco smoking is more strongly associated with lesions in sites heavily exposed to inhaled smoke, whereas alcohol consumption has a stronger effect on structures belonging to the 'food channel' and reservoir systems. We found no association between delay and tumour stage at diagnosis, but a statistically significant correlation was found between the delay and the tumour site. This leads us to conclude that the tumour stage is determined mostly by the biology of the tumour.

Panendoscopy as a screening procedure for simultaneous primary tumors in head and neck cancer.

Head and neck cancer is often associated with second primary neoplasms. These cancers most commonly involve other regions of the head and neck, esophagus, and lung. The majority of cases are also squamous cell carcinomas. In view of this rather frequent occurrence of multiple primary cancers and how they adversely affect the patient's survival, it becomes imperative to analyze how the clinician can intervene effectively. One such approach is to detect multiple primaries as early as possible. As such, panendoscopy as a part of the tumor-staging procedure has been advocated by many investigators to search for simultaneous second primary malignant neoplasms in patients presenting with head and neck cancer. In a 24-month period, data were gathered from 127 consecutive patients referred to University Hospital, Gheni with previously untreated, squamous cell carcinomas of the head and neck. One hundred-eighteen patients underwent an endoscopic examination under general anesthesia, during which 4 simultaneous second primary tumors were found in 3 patients. This represents an incidence of 3.4% of simultaneous second primary neoplasms. The results for the different parts of the endoscopy are discussed and compared with literature findings. Guidelines are given for the initial evaluation of the head and neck cancer patient.

Multiple primary tumors in head and neck cancer: etiology and incidence.

Second primary tumors are an important and challenging problem in head and neck oncology. The reported incidence of multiple primary tumors varies from 5 to 30%. The majority of these second tumors occur in the aero-digestive tract. They are a major cause of failure in the treatment of head and neck cancer.