Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).

OBJECTIVE: To evaluate hearing impairment and cochlear function in non-ocular Stickler syndrome. STUDY DESIGN: Multifamily study. PATIENTS & METHODS: Ten patients from two different families with non-ocular Stickler syndrome (Stickler syndrome type 3) were included. Six members of the first family and four members of the second family participated in this study. Otorhinolaryngologic examinations were performed. Pure-tone and speech audiograms were obtained. Longitudinal analysis was performed. Psychophysical measurements, including loudness scaling, gap detection, difference limen for frequency and speech perception in noise were administered to assess cochlear function at a deeper level. RESULTS: Affected individuals in the first family were carriers of a heterozygous splice donor mutation in the COL11A2 gene. Affected individuals in the second family were carriers of a novel heterozygous missense mutation in COL11A2. Both families showed bilateral, non-progressive hearing impairment with childhood onset. The severity of the hearing impairment exhibited inter- and intrafamilial variability and was mostly mild to moderate. The results of the psychophysical measurements were similar to those previously published for DFNA8/12 (TECTA) and DFNA13 (COL11A2) patients and thus consistent with an intra-cochlear conductive hearing impairment. This is in line with the theory that mutations in COL11A2 affect tectorial membrane function. CONCLUSION: Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Psychophysical measurements in non-ocular Stickler patients were suggestive of intra-cochlear conductive hearing impairment.

Individual models for virtual bone drilling in mastoid surgery.

Segmented training cases for virtual simulation of bone-drilling interventions in middle ear surgery have proven to be helpful in learning about surgical anatomy of the temporal bone. The anatomy of the mastoid shows a high degree of variability, however, and the aim of this study was to evaluate whether individual virtual models could be created within an affordable timeframe, and to what extend they reflected natural individual anatomy during virtual mastoid surgery. Automatic segmentation schemes were used, and these reduced the time required to create individual models on the basis of DICOM CT scans to less than 5 minutes. Models based on CT data with a slice distance of 0.4 mm or better were found to provide excellent handling, an acceptable depiction of mastoidal organs, and a helpful impression of the individual surgical situation. Although landmarks are still more easily detected in real mastoids, virtual drilling of individual models makes the 3D estimation of specific anatomy more effective than estimations based on interpretation of CT scans alone.

Chemokine CXCL13 is overexpressed in the tumour tissue and in the peripheral blood of breast cancer patients.

The abilities of chemokines in orchestrating cellular migration are utilised by different (patho-)biological networks including malignancies. However, except for CXCR4/CXCL12, little is known about the relation between tumour-related chemokine expression and the development and progression of solid tumours like breast cancer. In this study, microarray analyses revealed the overexpression of chemokine CXCL13 in breast cancer specimens. This finding was confirmed by real-time polymerase chain reaction in a larger set of samples (n = 34) and cell lines, and was validated on the protein level performing Western blot, ELISA, and immunohistochemistry. Levels of CXCR5, the receptor for CXCL13, were low in malignant and healthy breast tissues, and surface expression was not detected in vitro. However, we observed a strong (P = 0.0004) correlation between the expressions of CXCL13 and CXCR5 in breast cancer tissues, indicating a biologically relevant role of CXCR5 in vivo. Finally, we detected significantly elevated serum concentrations of CXCL13 in patients with metastatic disease (n = 54) as compared with controls (n = 44) and disease-free patients (n = 48). In conclusion, CXCL13 is overexpressed within breast cancer tissues, and increased serum levels of this cytokine can be found in breast cancer patients with metastatic disease pointing to a role of CXCL13 in the progression of breast cancer, suggesting that CXCL13 might serve as a useful therapeutic target and/or diagnostic marker in this malignancy.

[Histomorphological study of experimentally induced canalolithiasis]. / Histomorphologische Untersuchung bei experimentell induzierter Kanalolithiasis.

Free otoconia in the posterior semicircular canal (pSCC) are regarded as the main reason for benign paroxysmal positional vertigo. We investigated the distribution of otoconia in the membranous labyrinth of guinea pigs (n = 34) after a defined rotatory/angular kinetic acceleration. The angular kinetic energy of the rotatory experiment produced a dislocation of the otoconia and sometimes of the complete gelatinous otolithic membrane of the utricular and saccular macula. The otoconia could be observed in all three semicircular canals but predominated in the dark cell areas of the utricular side of the lateral SCC. A total obstruction of the semicircular canal could never be seen. Close to the lateral crista, perilymphatic hemorrhage could frequently be observed. The saccular otoconia were located in the amalgamation between endolymphatic membrane and saccule. The results of this histological study can form the basis for different theories about the genesis of canalolithiasis and cupulolithiasis and the vertigo which accompanies them.

[G-DRG System 2005. Analysis and evaluation of significant changes from the viewpoint of HNO medical science]. / G-DRG-System 2005. Analyse und Bewertung wesentlicher Anderungen aus Sicht der HNO-Heilkunde.

With the release of the new Global Case Agreement by Self Administration in Public Health on the 16 September 2004, the adjustment of the G-DRG System for the year 2005 was completed. Otorhinolaryngology, and head and neck surgery face several changes in the fields of diagnosis and procedural coding (ICD-10-GM 2005, OPS-301 2005), G-DRG case allocation, and extra reimbursements for special interventions. Despite some considerable improvements, substantial problems remain unsolved. This paper presents and comments on the key points of the G-DRG System for 2005 for otorhinolaryngology, and head and neck surgery.

[Influence of botulinum toxin on myogenous facial pain]. / Beeinflussung muskulärer Gesichtsschmerzen durch Botulinumtoxin A.

OBJECTIVE: Can chronic pain of the masticatory muscles be positively affected by low dose injection of botulinum toxin (BTX-A)? METHODS: Twenty patients suffering chronic myofacial pain were questioned and examined after injection of 25-50 U Dysport into the affected muscles over a period of 8 weeks. RESULTS: Four weeks after injection of BTX-A patients reported a significant reduction of pain (p <0.001, paired t-test. Power of performed test with alpha 0.050:1.000). Then the pain remained constant over the next 4 weeks. Concurrently a significant increase of mandubular range of movement was observed (p <0,05, Wilcoxon signed rank test). CONCLUSIONS: Even though lacking placebo control the findings suggest that patients suffering chronic myofacial pain may benefit from injection of low dose BTX-A into the affected muscles.

Restoration of hearing by hearing aids: conventional hearing aids - implantable hearing aids - cochlear implants - auditory brainstem implants.

Aim of this report is to explain the current concept of hearing restoration using hearing aids. At present the main issues of conventional hearing aids are the relative benefits of analogue versus digital devices and different strategies for the improvement of hearing in noise. Implantable hearing aids provide a better sound quality and less distortion. The lack of directional microphones is the major disadvantage of the partially implantable hearing aids commercially available. Two different clinical studies about fully implantable hearing aids have been started in 2004. One of the most-promising developments seems to be the electric-acoustic stimulation.

[Oropharyngeal vocal tract space during singing--comparison of tactile-kinesthetic and auditory perception with objective endoscopic findings]. / Zur Perzeption der Weite des oropharyngealen Anteils des Ansatzrohres beim Singen. Untersuchungen zum Vergleich von subjektiver auditiver sowie taktil-kinästhetischer Wahrnehmung und objektiven endoskopischen Bildbefunden.

BACKGROUND: In this study we compared the perceived diameter of the vocal tract's oropharyngeal part with the diameter that was determined endoscopically. METHODS: 28 singers (13 male, 15 female) were examined with transnasal fiberscopic pharyngoscopy while singing the vowels /a/, /i/ and /u/ in 4 different timbres (normal, opened, covered, dumpled) and 3 different pitches (chest/modal register, subjective comfortable pitch for singing, head/falsetto register). The tactile-kinesthetic and auditive rating of the singers, the auditive rating of a singing teacher and the visual-endoscopic analysis of three laryngologists were compared. RESULTS: The tactile-kinesthetic and auditory self-perception of the singers was quite different from the auditive perception of a singing teacher and visual endoscopic findings of the laryngologists. The singers had the impression that the different singing timbres (normal, opened, covered, dumpled) influence oropharyngeal vocal tract space during singing. They judged the vowel itself and the pitch as having very little influence. Based on his auditory perception, the singing teacher also rated that the timbre plays an important role for the oropharyngeal vocal tract space but he found vowels to be the parameter with the greatest impact. Via visual endoscopic examination we found that, among the three parameters (vowel, timbre, pitch), the different vowels are most influential on the oropharyngeal vocal tract space. Analysis of video sequences revealed that pitch and timbre are less important. CONCLUSION: Subjective tactile-kinesthetic and auditory perception of the singers differs from auditory perception of the singing teacher as well as from endoscopic findings. The endoscopically determined oropharyngeal vocal tract space during singing the vowels /i/ or /u/ tends to be larger compared to the oropharyngeal vocal tract space while singing the vowel /a/.

[Sonography of the larynx--an alternative to laryngoscopy?]. / Kehlkopfsonographie-eine Alternative zur endoskopischen Diagnostik?

PROBLEM: The aim of this study was to determine whether the pictorial results obtained from B-mode ultrasonography duplicate those of laryngeal endoscopy and whether there are any additional advantages when using ultrasonography. PATIENTS AND METHODS: A total of 22 patients with various diseases of the larynx were examined ultrasonically with the ultrasound plusing a Sonoline Elegra as well as with a '7.5 L40' and a 'VF 13/5' linear array. In order to compare both methods directly, reference data were prepared and contrasted. RESULTS: All of the laryngeal lesions recognised in the endoscopic investigation were also demonstrable by the use of ultrasound, although minor changes were difficult to detect. In one case, ultrasonography suggested the presence of an infiltration of the thyroid cartilage, otherwise no additional information was available using this method. CONCLUSIONS: Using ultrasonography, the image quality of the larynx is worse than that of the soft tissue of the neck, which is determined by the air-mucous membrane boundary as well as the (ossified) cartilaginous skeleton. Thus, ultrasonography is useful in cases of larger laryngeal lesions, while there is no advantage in the detection of small processes.

[Preliminary results for superficial parotidectomy using the ultrasonically activated scalpel (Ultracision Harmonic Scalpel)]. / Erste Ergebnisse zur Technik der laterofazialen Parotidektomie mit dem ultraschallaktivierten Skalpell (Ultracision Harmonic Scalpel(R)).

BACKGROUND: The high density of blood vessels in the parotid gland, the direct vicinity to the facial nerve and the narrow surgical situs require efficient intra- and postoperative hemostasis. The ultrasonic scalpel (US) accomplishes both tissue dissection and vessel coagulation simultaneously by an ultrasonically activated shear movement of 55 500 Hz. The combination of hemostasis and tissue dissection particularly qualifies US for use in surgery of the parotid gland. Until now, there have been no published studies about application of US in surgery of the parotid gland. METHOD: 20 patients with benign parotid tumors treated with a conventional technique of superficial parotidectomy and 20 patients with a superficial parotidectomy using the ultrasonically activated scalpel were examined in regard to intra- and postoperative hemostasis, wound healing and postoperative pain. Also, the quality of the histopathological specimen obtained by US was evaluated. RESULTS: In 85 % (17/20) of superficial parotidectomy efficient intraoperative hemostasis did not require electrocoagulation. In 15 % (3/20) of parotid tumors additional bipolar electrocoagulation were required because of venous bleeding from vessels exceeding 2.0 mm in diameter. Postoperative bleeding did not occur at all. Wound healing was uneventful in all cases. Surgery-related postoperative pain was not intensified. Time of operation was shortened. Histopathological evaluation, especially in the margin area, was not impaired. CONCLUSION: The US offers tissue dissection with effective intra- and postoperative hemostasis. The combination of simultaneous tissue dissection and hemostasis enables a good overall view and control of the surgical site. In addition, based on the mechanical function the US has only a minimal thermal effect on neighboring tissues and enables controlled tumor resection without damaging the facial nerve.

[New aspects of the mechanics of the auditory tube]. / Neue Aspekte zur Mechanik der Tuba auditiva.

The aim of the present article is to describe the mechanical components of the auditory tube and the role of these components in auditory tube function. Particular attention will be given to those aspects which have not been sufficiently dealt with in the past, such as the role of the isthmus region, the function of the lateral mucosal folds, the significance of the of the surfactant proteins and the pathophysiology of the patulous auditory tube. Special attention is given to the tensor veli palatini muscle and its physiology. Because of its isometric contraction, the function of this muscle depends on so-called hypomochlia changing the direction of its force. In the context of this article, the three hypomochlia involved are the pterygoid hamulus, Ostmann's fatty tissue and the medial pterygoid muscle. The so-called "Eppendorf-maneuver" is depicted for the first time.

Neue Aspekte zur Mechanik der Tuba auditiva.

The aim of the present article is to describe the mechanical components of the auditory tube and the role of these components in auditory tube function. Particular attention will be given to those aspects which have not been sufficiently dealt with in the past, such as the role of the isthmus region, the function of the lateral mucosal folds, the significance of the surfactant proteins and the pathophysiology of the patulous auditory tube. Special attention is given to the tensor veli palatini muscle and its physiology. Because of its isometric contraction, the function of this muscle depends on so-called hypomochlia changing the direction of its force. In the context of this article, the three hypomochlia involved are the pterygoid hamulus, Ostmann's fatty tissue and the medial pterygoid muscle.The so-called "Eppendorf-maneuver" is depicted for the first time.

[Postoperative nausea and vomiting--pathophysiology, prophylaxis and treatment]. / Postoperative Ubelkeit und Erbrechen in der Hals-, Nasen- und Ohrenheilkunde. Pathophysiologie, Therapie und Prophylaxe-Eine Ubersicht.

Postoperative nausea and vomiting (PONV) are among the most common complications in operative medicine. Especially patients undergoing middle ear surgery or adenotonsillectomy are frequently associated with PONV (70 %). Furthermore, emesis carries the risk of severe postoperative complications and is associated with additional costs and distress in patient management. If the patient carries a high risk for postoperative emesis, the patient should receive a prophylactic antiemetic therapy. 5-HT 3 receptor antagonists are highly effective in prevention and management of PONV. This review will discuss pathophysiology, prophylaxis and treatment of postoperative nausea and vomiting after E.N.T. surgery.