Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Objective

To assess if hearing loss is a feature of Joubert syndrome (JBS), one of the ciliopathies and therefore possibly associated with hearing loss.

Design

Retrospective case series.

Setting

University Children's Hospital.

Patients

Dutch patients with JBS.

Main outcome measures

Audiological data.

Results

Data from 22 Dutch Joubert syndrome (JBS) cases (17 males, 5 females) aged 3-40 years were available. Audiological tests were successfully performed in 14 cases. Three cases (aged 17-26 years) showed very mild sensorineural hearing loss (SNHL) at different frequencies. Conductive hearing loss due to middle ear infections occurred frequently in young JBS children (6 out of 22 cases). In three cases (aged 3-13 years) the parents reported the child was hypersensitive to sound.

Conclusion

We found no evidence for significant hearing loss in Joubert syndrome patients. However, given the compromised speech development in JBS, conductive hearing loss due to middle ear infections should be treated vigorously. SNHL at a later age cannot be excluded on the basis of our data, given the sample size. Three of the older cases showed discretely increased hearing thresholds. Analogous to the ciliopathy Bardet-Biedl syndrome, where hearing thresholds were reported to be subclinically increased in a group of adolescents patients, we recommend follow-up of JBS patients in view of the possibility of progressive, late-onset SNHL.     

When is a biopsy justified in a case of relapsing polychondritis?

Relapsing polychondritis (RP) is a relatively rare rheumatic condition of unknown aetiology. It is characterized by recurrent episodic inflammation of cartilaginous structures (nose, ear and trachea). The clinical diagnosis of polychondritis can frequently be made with confidence in the absence of histological confirmation. A 61-year-old diabetic man, with bilateral relapsing aural inflammation, left ear deafness with tinnitus and pain at the sternocostal junctions is reported. After clinical diagnosis of relapsing polychondritis steroid therapy was started. An ear cartilage biopsy was performed confirming the clinical diagnosis. Subsequently soft tissue infection occurred at the operation site. The abscess was drained and oral ciprofloxacin was given with complete resolution of the infection over 30 days. As the infection is the main cause of death in these patients, we analyse whether biopsy is absolutely necessary for the diagnosis of RP in some patients.     

Long-term prophylactic treatment of attacks of vertigo in Menière's disease--comparison of a high with a low dosage of betahistine in an open trial

CONCLUSION: Despite the considerable limitations of an open, non-masked trial, particularly in Menière's disease (MD), a higher dosage of betahistine-dihydrochloride and a long-term treatment seems to be more effective than a low dosage and short-term treatment. OBJECTIVE: To evaluate the prophylactic effects of a low versus high dosage long-term treatment with betahistine-dihydrochloride on the number of attacks in MD. PATIENTS AND METHODS: We performed an open, non-masked trial, in which patients with MD received either a low dosage of betahistine-dihydrochloride (16 or 24 mg tid) or a higher dosage of 48 mg tid for at least 12 months. The outcome measure was the number of attacks per month during a 3-month period. Non-parametric tests and a random effects model were used for statistical analysis. RESULTS: A total of 112 patients were included in the analysis: 50 received betahistine-dihydrochloride in a low dosage (16 mg tid, n=21, 24 mg, n=29) and 62 received 48 mg tid. Follow-up examination every 3 months showed that the number of attacks per month decreased in both groups over time. For instance, after 12 months the mean (median) number of attacks dropped from 7.6 (4.5) to 4.4 (2.0) (p<0.0001) in the low-dosage group, and from 8.8 (5.5) to 1.0 (0.0) (p<0.0001) in the high dosage group. The number of attacks after 12 months was significantly lower in the high dosage group than in the low dosage group (p(12M)=0.0002). The treatment was well tolerated in both groups.     

Neurovascular compression syndrome with Meniere's disease—a report of the treatment of a patient with microvascular decompression

Neurovascular compression syndrome(NVCS) is currently regarded as one of the causes of disabling positional vertigo (DPV). A 59-year-old man visited our hospital on December 15, 1993. The neuro-otological examination suggested that the patient had Meniere's disease and he was treated with conservative medication. However, the patient continued to suffer definite vertigo attacks, as well as a fluctuation in his hearing. A consultation and discussion lead us to believe the patient was also suffering from NVCS. We planned the microvascular decompression surgery. After surgery, the patient stopped suffering from vertigo attacks but his audiogram showed severe fluctuation in sensorineural hearing levels. It was concluded that the present patient had been suffering from NVCS combined with Meniere’s disease.     

Teratoma of the middle ear: a real entity or a non-entity?

Space-occupying lesions of the middle ear range from wholly benign developmental anomalies to highly virulent and aggressive malignancies. Amongst the benign entities classed with the family of developmental anomalies, the middle ear choristoma is well known. But what of the middle ear teratoma? Recent reports suggest that, while rare, teratomas of the middle ear do exist. Middle ear teratomas are defined as tumors consisting of benign tissues derived from all three embryologic layers: endoderm, mesoderm and ectoderm. They are lesions of the neonatal period and early infancy. While complete surgical excision will be curative, a thorough histologic examination of the specimen is recommended to exclude the possibility of immature and/or frankly malignant elements being admixed with the benign teratomatous elements.     

Is a redefinition of the growth criteria of vestibular schwannomas needed?

Purpose

The natural history of vestibular schwannomas is poorly understood. Knowledge of growth rate and growth pattern is essential because the treatment strategy is based upon these. The purpose of this study was to determine the inter- and intraobserver variability in measuring VS size.

Materials and methods

Two consultant neuroradiologists independently made three linear measurements (d1, d2, d3) using digital MRI scans. MRI scans from 72 patients diagnosed between 2002 and 2010 with VS were obtained. These patients had a total of 223 MRI scans. d1 (medio-lateral diameter) was made perpendicular to d2. d2 was made parallel to the posterior border of the petrous ridge, and d3 was a measure of the cranio-caudal height of the tumor.

Results

Limits of Agreement ranges are larger for interobserver reliability compared to intraobserver reliability. Measurement error for all diameters (except d1, intraobserver) is greater than 2 mm. d1 measurements had the least variability and d3 measurements the highest variability, both for intra and interobserver measurements.

Conclusions

The optimal method of estimating VS size needs further investigation, and measurements need to be standardized and clearly defined. d3 seems to be the most difficult diameter to measure reliably. Interobserver measurement error for all diameters is greater than 2 mm. The current VS growth criterion of more than 1–2 mm, used to triage patients to surgery, lies within this error range, and thus is problematic as a guide for clinical practice. We therefore suggest that the growth criterion for VS be redefined.     

Is the Trachea a Marker of the Type of Environmental Pollution?

OBJECTIVES/HYPOTHESIS: The differentiated character of changes in the mucous relief of the trachea as induced by air containing pollutants from the wastes of nickel-, mercury-, and cement-producing plants and by Candida albicans occurring in the waste disposal site of a large town are identified. The trachea was chosen because it is the entrance gate for the penetration of polluted air into the lungs. Changes on the trachea influence the character and extent of changes in lungs. STUDY DESIGN: Histological study with Viennese grey strain laboratory rabbits and rats caught directly on an investigated site. METHODS: We present new results of the functional morphology of the respiratory system as the results of scanning and transmission electron microscopy studies that can reveal character and range of damage of mucosal relief of trachea relevant to the functional dynamics of mucociliary clearance. Under physiological conditions this mechanism allows that only respirable dust particles enter the deep respiratory tract. RESULTS: In case of a damaged tracheal relief because of exposure to various aerosols, the functional morphology is changed, which aids in understanding the mechanisms damaging to mucociliary clearance induced by living in heavily polluted areas. CONCLUSION: Understanding of these morphological changes on base of detailed electron microscopic findings sheds new light on elaborating novel diagnostic methods for clinical practice.     

Kimura’s Disease — report of a case masquerading as a parotid tumor

Kimura’s Disease is a part of an ill- defined spectrum of vascular lesions of the subcutis. It is a benign chronic inflammatory condition producing subcutaneous tumour like nodules chiefly in the head and neck region with predilection for periauricular areas. It is characterised histologically by dense fibrosis, lymphoid infiltration, vascular proliferation and eosinophilia. The condition has a preponderance in the for eastern countries. It is extremely uncommon in Indian subcontinent. There has been no reported case from the Indian subcontinent in the English Literature. We report such a rare case in which the condition presents as parotid masses. We also present its CT, MRI & histopathology features and a brief review of literature.     

diagnosis and management of first branchial fistula: a study of 12 cases

To report authors' experiences in the diagnosis and treatments of congenital first branchial fistula (congenital auriculocervical fistula). Materials and Methods Twelve cases of congenital first branchial fistula were reviewed. Of these, 8 underwent fistulectomy with facial nerve dissection and partial parotidectomy and 4 underwent simple fistulectomy. Results The inner openings (upper opening) of fistulae lay in the following sites: inferioposterior wall at the junction of cartilaginous and bony segments of the auricular canal and inferior wall of cartilaginous auricular canal. The outer openings(lower opening) lay along the anterior border of upper sternocleidomastoid muscle, at the mastoid tip and posterior to the mandibular angle. Complete fistulae resection was achieved in all but one case. Eleven cases were followed for 5 year with no recurrence. Recurrence occurred in 1 case 6 months after the primary surgery and revision surgery was performed. Conclusions Pre-operative radiography for the location and course of the fistula is crucial for successful fistula resection, especially in cases with past infections. Facial nerve dissection should be done routinely for deeply located fistulae.     

Identification of early-stage Meniere’s disease as a cause of unilateral tinnitus

Introduction:Meniere’s disease(MD)is characterized by episodic symptoms,including vertigo,hearing loss,and tinnitus.Objectives:in this study,cases of unilateral tinnitus were investigated for MD.Method:Twenty-two patients who presented with chronic unilateral tinnitus on puretone audiograms showing an average threshold better than 25 dB HL and thresholds in the lower frequencies worse than those in the higher frequencies by more than 10 dB were suspected to have early-stage MD and underwent electrocochleography(ECochG).Patients showing ECochG findings conclusive for MD were compared to a control group of patients presenting with chronic unilateral tinnitus on pure-tone audiograms showing an average threshold better than 25 dB and thresholds in the higher frequencies worse than those in the lower frequencies by more than 10 dB.Results:Eighteen of the 22 patients included in this study showed elevated summating potential amplitude to action potential amplitude ratios in ECochG(suggestive of endolymphatic hydrops due to MD)and were followed up for 2 months;14 of them experienced at least two attacks of vertigo or unsteadiness.In contrast,only one patient in the control group reported two or more attacks of vertigo or unsteadiness in the 2 month observation period.The incidence of this finding in the two groups was significantly different.Conclusion:Patients with early-stage MD can present with only unilateral tinnitus.Thus,the addition of“pure-tone audiograms showing lower-frequency thresholds worse than higher-frequency thresholds”to the probable MD category in the globally.     

The evaluation of a surgery and the short-term benefits of a new active bone conduction hearing implant - the Osia®

IntroductionModern medicine offers a wide spectrum of different hearing devices, and bone conduction implants can be found among them.ObjectiveThe presentation of the outcomes of the implantation of a new active bone conduction hearing implant – the Osia®, and its comparison with the well-known passive transcutaneous system – the Baha® Attract.MethodsEight adult patients with bilateral mixed hearing loss were randomly divided into two groups. Group 1 was implanted with the Osia®, and group 2 was implanted with the Baha® Attract. The details of the surgery were analyzed, along with the functional and audiological results.ResultsIn all the cases, the surgery was successful, and the healing uneventful. In both groups, it was observed that pure tone audiometry and speech audiometry in free field improved significantly after the implantation (mean gain in pure tone audiometry for the Osia group 42.8 dB SPL and for the Baha group 38.8 dB SPL). In the Osia group, the results after the surgery were much better than with the Baha® 5 Power processor on the Softband. The patients implanted with the Osia® evaluated the quality of their hearing as being superior to those implanted with the Baha® Attract. There was an evident improvement in the abbreviated profile of hearing aid benefit questionnaire and in the speech, spatial and qualities of hearing scale for both systems. In the abbreviated profile of hearing aid benefit, changes were more evident in the Osia group (in global score 49% vs. 37.2%).ConclusionImplantation of the Osia® is an effective treatment option for the patients with bilateral mixed hearing loss. The surgery is safe but more complex and time-consuming than the Baha® Attract implantation. The preliminary audiological results as well as the overall quality of life indicate that the Osia® is a better solution than the Baha® Attract. However, future studies should be carried out to make further observations in a larger group of patients, and with longer follow-up.     

Atypical presentations of rhinosporidiosis: a clinical dilemma?

Rhinosporidiosis is a chronic inflammatory disease common in India and Sri Lanka. Its manifestations are mostly nasal, though extranasal ones in head and neck region are not rare. Occasionally these presentations lead to diagnostic dilemma. Here we present some cases with its associated confusions if any. In this study thirty five patients were included. Extranasal manifestations were noted in nine cases. Two patients attended with laryngopharyngeal and one with lacrimal sac presentation-subsequent nasal endoscopic examination revealed presence of nasal masses, too. Other six cases presented with polypoidal mass hanging from nasopharynx into oropharynx. One of them was confused with nasopharyngeal angiofibroma. Two laryngopharyngeal masses were removed successfully with rigid laryngoscope followed by cauterisation of the base. The solitary lacrimal sac mass was excised by external approach combined with nasal endoscope guided excision of nasal mass. The other six cases with nasopharyngeal attachment were subjected to nasal endoscope guided removal. In all these cases, the base of the lesions was cauterised. The experience about the various manifestations and diagnostic problems is discussed here.     

Solitary extramedullary plasmacytoma of tonsil — a rare location

Extramedullary plasmacytoma is a rare form of plasma cell dyscrasia, in which plasmacell tumours arise outside the bone marrow. The tumor may arise in any part of the body but the vast majority occur in head and neck, primary in the nasal cavity, paranasal sinuses or upper airway. We present here a rare case of extramedullary plasmacytoma arising from the tonsil The clinical, histolopathology, immunohistochemical findings are reviewed and the management discussed.     

Rehabilitation of Bells’ palsy from a multi-team perspective

Conclusions Defectively healed facial paralysis causes difficulties to talk and eat, involuntary spasms (synkinesis), and cosmetic deformities which can give rise both to severe psychological and physical trauma. A team consisting of Ear-Nose-Throat specialists, Plastic surgeons and Physiotherapists can offer better care, treatment and outcome for patients suffering from Bells' palsy.

Objectives Patients suffering from Bells' palsy from all ENT hospitals in Sweden and the University Hospital in Helsinki has been included.

Methods Results have been drawn and statistically processed for different outcomes from a prospective, double blind cross over study. Results from a pilot surgical study and therapeutic results from physiotherapy studies have been included. Ideas concerning different kinds of surgery will be reviewed and the role of physiotherapy discussed.

Results According to common results, treatment with Prednisolone enhances the recovery rate and should, if possible, be used early in the course. Sunnybrook grading at 1 month after onset most accurately predicts non-recovery at 12 months in Bells’ palsy and a risk factor curve will be presented in order to predict outcome and selection of patients for undergoing facial surgery. This report is focusing on how to handle patients with Bells’ palsy from a multi-rehabilitation team point of view, and what will be recommended to provide these patients with the best clinical and surgical help.     

Cortical Processing Related to Intensity of a Modulated Noise Stimulus—a Functional Near-Infrared Study

Sound intensity is a key feature of auditory signals. A profound understanding of cortical processing of this feature is therefore highly desirable. This study investigates whether cortical functional near-infrared spectroscopy (fNIRS) signals reflect sound intensity changes and where on the brain cortex maximal intensity-dependent activations are located. The fNIRS technique is particularly suitable for this kind of hearing study, as it runs silently. Twenty-three normal hearing subjects were included and actively participated in a counterbalanced block design task. Four intensity levels of a modulated noise stimulus with long-term spectrum and modulation characteristics similar to speech were applied, evenly spaced from 15 to 90 dB SPL. Signals from auditory processing cortical fields were derived from a montage of 16 optodes on each side of the head. Results showed that fNIRS responses originating from auditory processing areas are highly dependent on sound intensity level: higher stimulation levels led to higher concentration changes. Caudal and rostral channels showed different waveform morphologies, reflecting specific cortical signal processing of the stimulus. Channels overlying the supramarginal and caudal superior temporal gyrus evoked a phasic response, whereas channels over Broca’s area showed a broad tonic pattern. This data set can serve as a foundation for future auditory fNIRS research to develop the technique as a hearing assessment tool in the normal hearing and hearing-impaired populations.