Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia.

CONCLUSIONS: Patients with hereditary hemorrhagic telangiectasia genotype ALK-1 (HHT2-ALK-1) with nonsense mutation demonstrated tendentially higher health-related quality of life (HR-QOL) scores than patients with HHT with genotype ENG (HHT1-ENG) with missense mutation. OBJECTIVE: HHT, also known as Osler-Weber-Rendu syndrome, comprises different expressions depending on genetic type and mutation type. The influence of HHT type on HR-QOL has not been established and is addressed in this paper. PATIENTS AND METHODS: A total of 94 patients with confirmed diagnoses of HHT (Curaçao criteria) participated in this study. EDTA (ethylene diamine tetraacetic acid) blood samples of 24 patients were sequenced genetically into genotype HHT1 (ENG) vs HHT2 (ALK-1) and mutation type missense vs nonsense. HR-QOL was assessed with the German Short Form 36 Health Survey (SF-36). RESULTS: HHT2 patients (genotype ALK-1) demonstrated significantly higher physical component scores than HHT1 patients (effect size d=0.62). Patients with genotype ENG (HHT1) with nonsense mutations showed significantly higher mental component scores than patients with missense mutations (effect size=0.79).

Impact of gender, age, and comorbidities on quality of life in patients with chronic rhinosinusitis.

STATEMENT OF THE PROBLEM: To evaluate the impact of gender, age and comorbidities of health-related quality of life (HR-QOL) assessments in patients with chronic rhinosinusitis. METHODS: The prospective administration of the German Adapted Version of the Sino-Nasal Outcome Test 20 (SNOT-20 GAV) to patients with chronic rhinosinusitis. Two hundred and two patients with chronic rhinosinusitis filled out the questionnaire before functional endoscopic sinus surgery (FESS) and again at the 3-month follow-up. MAIN RESULTS: Gender had a significant impact on the Overall Score (OS) and on the General Quality of Life Score (GQOL) of the SNOT-20 GAV but no influence on the disease-specific scores of 'Primary Nasal Symptoms' (PNS) and 'Secondary Rhinogenous Symptoms' (SRS). Age did not influence HR-QOL. Patients with comorbidities demonstrated lower HR-QOL scores. PRINCIPAL CONCLUSION: Women had significantly poorer QOL scores than men. It seems that the influence of gender reflects general HR-QOL views rather than illness-related expectations.

In vitro model for intraoperative adjustments in an implantable hearing aid (MET).

OBJECTIVE: Assessment of the optimal static preloading of Otologics Middle Ear Transducer (MET) Ossicular Stimulator, when coupled to the incus. BACKGROUND: The MET Ossicular Stimulator is a partially implantable electromagnetic middle ear hearing device that transmits vibrations to the ossicular chain. The vibration patterns were measured with laser-Doppler vibrometry. STUDY DESIGN: Experimental. MATERIAL: We used three human cadaveric temporal bones (TB) and one MET ossicular stimulator. METHODS: Laser-Doppler vibrometry was used for the selection of TBs. The cochlea was subsequently extirpated from the posterior side to measure the vibrational patterns (VP) of the footplate. Three TBs with different VP were selected based on data obtained from volunteers with normal hearing (n = 110): one TB with a VP larger than +1 SD, one TB with a VP in the range of +/-1 SD, and 1 TB with a VP smaller than -1 SD. Transfer functions were calculated between VP of the measurement points at the coupling rod, umbo, incus, and footplate. The TBs were subsequently defrosted. The MET was implanted and coupled to the ossicular chain. Different coupling loads were measured at the incus, the umbo, and the footplate. RESULTS: Optimal transfer function between the MET transducer and the oval window was achieved during contact when the coupling rod advanced 0.0625 mm (90 degrees rotation). Additional advances of 0.0625 mm (180 degrees turn = 0.125 mm) resulted in a decreased vibrational amplitude, ranging between 20 and 40 dB below 3 kHz. The lowest linear distortion occurred up to 10 kHz during direct contact without advancing the coupling rod.

Benefit from tonsillectomy in adult patients with chronic tonsillitis.

The objective of this study was to determine the benefits of tonsillectomy in adult patients with chronic tonsillitis with special emphasis on the influence of age and gender. Cross-sectional survey analysis of patients at least 1 year after undergoing adult tonsillectomy at a university department. We used the Glasgow Benefit Inventory and a specifically constructed illness inventory (Specific Benefits from Tonsillectomy Inventory). One hundred and nine patients completed the survey. Significant improvements were demonstrated in three out of four GBI scores ['total score' (+16.9), 'general health' (+12.9), 'physical functioning' (+46.6), all P<0.0001] and in all SBTI scores ['symptom change' (+58.3), 'reduced use of resources' (+70.9), 'general benefit' (+52.1), all P<0.0001]. Gender did not play a significant role in benefit evaluation whereby younger patients evaluated the surgery as more beneficial than older patients. Adult patients with chronic tonsillitis definitely benefit significantly from tonsillectomy. Younger adult patients perceived greater surgical benefits than older adult patients. Patient gender did not significantly influence tonsillectomy benefit evaluation.

Quality of life after unilateral acoustic neuroma surgery via middle cranial fossa approach.

CONCLUSIONS: Patients with acoustic neuroma experienced reduced quality of life (QOL) after surgery. Individual factors did not have a significant effect on QOL. In the future, QOL should be a basic factor in the outcome evaluation of different therapeutic regimens in the treatment of acoustic neuroma. OBJECTIVE: To measure the QOL of patients who underwent unilateral acoustic neuroma surgery via the middle cranial fossa approach. MATERIAL AND METHODS: The Short Form-36 (SF-36) Health Survey and a self-designed disease-specific questionnaire were used during follow-up examinations to assess health-related QOL. The pure-tone average was used to specify hearing ability. Facial nerve function was described using the House-Brackmann grading system. A total of 28 male and 14 female patients who underwent surgery between 1997 and 2001 were included in the study. RESULTS: Patients' QOL scores revealed significant reductions in QOL in comparison to normative German QOL data. Gender, age, tumor size or location and clinical symptoms such as hearing loss and restricted facial nerve function did not have an effect on QOL. The SF-36 scales physical functioning, role functioning-physical, bodily pain, general health, social functioning and role functioning-emotional demonstrated significant QOL reductions.

Safe and reliable sound threshold measures with direct vibration of the ossicular chain.

OBJECTIVES: The aim of the study was to evaluate the safety and feasibility of piezoelectric malleus vibration audiometer (MVA), which presents micromechanical vibrations to the umbo membranae tympani. STUDY DESIGN: Phase I study performed in a tertiary referral center (University Hospital). METHODS: The coupling rod of the MVA was moved slowly through the outer ear canal toward the eardrum with a micromanipulator. Coupling was completed when the rod tip touched the umbo membranae tympani. Basic audiologic measures of sound threshold obtained with direct stimulation of the malleus are presented. We used MANOVA (multivariate repeated measures ANOVA) to investigate the repeatability of MVA thresholds from one day to the other and when decoupling and retracting the coupling rod 2 mm off the umbo. We also selected the MANOVA to test for unwanted bone-conduction threshold shifts after MVA application. We assessed normality of the data by quantile-quantile plots of the residuals. RESULTS: Twenty-eight male and 10 female subjects with normal hearing, 22.2 to 34.6 years old (median age, 27.2 yr) underwent an examination. Thirty-six subjects underwent MVA, because 2 of the 38 subjects who volunteered for the study have not undergone the procedure due to the external auditory canal anatomy preventing application of the MVA. The results show that it is possible to safely and reliably measure thresholds of direct vibration of the ossicular chain. Using pure tone audiograms, no pure tone bone- and/or air-conduction threshold shifts occurred after the procedure. None of the subjects reported any other ear-related symptoms such as vertigo, tinnitus, or dizziness. Geometric mean vibratory displacements at threshold ranged from 0.55 nm at 250 Hz to 0.03 nm at 6 kHz. MANOVA demonstrated a repeatability of MVA thresholds. CONCLUSION: Malleus vibration audiometry will not allow exact linkage of actual implantable hearing aid. But the present study demonstrates that MVA can provide an audiometric tool for assessing ossicular function and integrity prior to implantation of an electronic hearing amplifier.

Cognitive tinnitus sensitization: behavioral and neurophysiological aspects of tinnitus centralization.

OBJECTIVE: Acquired centralized tinnitus (ACT) is the most frequent type of chronic tinnitus. We introduce a cognitive neurophysiological ACT hypothesis based on centralized cognitive sensitization processes. MATERIAL AND METHODS: Published cognitive sensitization processes were reviewed using PubMed. Furthermore, a Cochrane analysis was performed. RESULTS: Patients frequently perceive tinnitus as being extremely loud although audiological tinnitus-matching measures reveal that its loudness levels are low. An important principle of central tinnitus processing is that individual tinnitus appraisal is directly linked to neuronal networks in the brain responsible for the production of emotions and cognitions. Cognitive processes may be associated with a reduction in the tinnitus cognition threshold, resulting in hypersensitivity of cognition. The underlying mechanism is known as sensitization and is suggested to be a specific learning process. CONCLUSIONS: ACT may be associated with a specific learning process allowing increased tinnitus awareness and continuous appraisal. The underlying mechanism, the cognitive tinnitus sensitization process, is associated with a decrease in the tinnitus cognition threshold. The sensitization contributes to the extremely loud cognition of the tinnitus signal. The associated audiological cognitive discrepancy can be used clinically and diagnostically to identify patients for cognitive testing. The sensitization model does not require tinnitus hyperactivity.

Phase III results with a totally implantable piezoelectric middle ear implant: speech audiometry, spatial hearing and psychosocial adjustment.

OBJECTIVE: To evaluate the treatment efficacy of an electromechanical middle ear amplifier implant (AI) in patients with chronic moderate-to-severe sensorineural hearing loss (SNHL). The AI is a piezoelectric system with a sound processor and a rechargeable battery within a hermetically sealed titanium canister. Its titanium-sealed microphone is placed in the bony region of the ear canal. The incus-coupled transducer (actuator), which is also inside a titanium casing, is fastened to the adjacent bone. MATERIAL AND METHODS: This was a phase III study comprising 20 intention-to-treat patients. Telemetrical adjustments followed electromechanical amplifier implantations. We used a word recognition test as our primary efficacy measure (Freiburg Speech Recognition Test: DIN 45621). Secondary efficacy measures were the sentence comprehension test (Goettinger Satztest, 1996) for auditory orientation within noisy and quiet environments and a psychosocial adjustment test (Gothenburg Profile Test, 1998). The 6-month follow-up comprised a complete medical examination. Nineteen patients completed the study (per-protocol patients; 100% reference). RESULTS: Seventeen patients (89%) demonstrated improved binaural recognition of phonetically balanced monosyllables. Fourteen postoperative patients (74%) attained a perfect score (100%) on this test, compared to only 3 preoperative patients (16%). Thirteen patients (68%) reached the sentence recognition threshold at a 2:1 dB signal-to-noise ratio during noisy trials. Correct identification of the noise source direction in the horizontal plane occurred in 89% of the trials. The Gothenburg Profile Test scores showed that the subjective evaluation of hearing, orientation, social behavior and self-confidence increased from 48% to 88%. Three patients did not benefit from the implant. CONCLUSION: Treatment of SNHL with a totally implantable hearing system can be an efficient method for those patients unable to wear hearing aids. However, in order to avoid implantation in non-responders, there is a need for more specific audiological indication criteria.