[Management of vestibular schwannomas].

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[Management of vestibular schwannomas].

Laryngorhinootologie. 2018 Dec;97(12):875-896

Authors: Schulz C, Eßer D, Rosahl S, Baljić I, Kösling S, Plontke SK

Abstract
Vestibular schwannomas are benign neoplasms originating from the Schwann cells of the vestibular vestibular nerve of the vestibulocochlear nerve, and rarely from the pars cochlearis. These are tumors that are in contact with the nerve but do not bind the fibers. Benign neoplasms of the Schwann cells of the auditory and equilibrium nerves can also occur primarily in the inner ear and are referred to as intralabyrinthine schwannomas (ILS). Vestibular schwannomas represent 6-7 % of all intracranial and 90 % of cerebellopontine angle tumors. Bilateral occurrence occurs in < 5 % of cases, and then corresponds to type 2 neurofibromatosis. The first symptom is often a unilateral hearing loss. It may then lead to balance disorders, tinnitus, facial paralysis and other impairments. Diagnosis is audiological, vestibular and imaging. Magnetic resonance imaging currently represents the gold standard. Management chooses between an observational strategy and surgery, depending on tumor size, age, and other factors. The possible access routes offer different advantages and disadvantages; the potential complications include the liquorrhoea. Radiation therapy is possible in special cases, and drug therapies are also being tested. In the rehabilitation of the hearing function, in addition to a CROS or BICROS restoration, the cochlear implant has been used with good success. The impact on quality of life is largely determined by hearing impairment, balance disorders, tinnitus, and possibly headache, which must be considered in patient consultation and long-term care.

PMID: 30536286 [PubMed - in process]

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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Hum Genet. 2018 Dec 08;:

Authors: Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, DOOFNL Consortium, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H

Abstract
ATP2B2 encodes the PMCA2 Ca2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca2+ from the stereocilia to the endolymph. Several mouse models have been described for this gene; mice heterozygous for loss-of-function defects display a rapidly progressive high-frequency hearing impairment. Up to now ATP2B2 has only been reported as a modifier, or in a digenic mechanism with CDH23 for hearing impairment in humans. Whole exome sequencing in hearing impaired index cases of Dutch and Polish origins revealed five novel heterozygous (predicted to be) loss-of-function variants of ATP2B2. Two variants, c.1963G>T (p.Glu655*) and c.955delG (p.Ala319fs), occurred de novo. Three variants c.397+1G>A (p.?), c.1998C>A (p.Cys666*), and c.2329C>T (p.Arg777*), were identified in families with an autosomal dominant inheritance pattern of hearing impairment. After normal newborn hearing screening, a rapidly progressive high-frequency hearing impairment was diagnosed at the age of about 3-6 years. Subjects had no balance complaints and vestibular testing did not yield abnormalities. There was no evidence for retrocochlear pathology or structural inner ear abnormalities. Although a digenic inheritance pattern of hearing impairment has been reported for heterozygous missense variants of ATP2B2 and CDH23, our findings indicate a monogenic cause of hearing impairment in cases with loss-of-function variants of ATP2B2.

PMID: 30535804 [PubMed - as supplied by publisher]

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Naunton's Masking Dilemma Revisited.

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Naunton's Masking Dilemma Revisited.

Otol Neurotol. 2019 Jan;40(1):e1-e6

Authors: Seneviratne S, McNeill C, Greenberg SL, Kong J

Abstract
BACKGROUND: Pure-tone audiometry is essential in diagnosing clinical hearing loss. Masking of the nontest ear is mandatory for determining accurate hearing thresholds in the presence of asymmetrical levels between the two ears and for ascertaining the presence of a conductive hearing loss. Paradoxically, over masking occurs when the intensity of the required masking noise to the contralateral ear is such that it exceeds interaural cranial attenuation by an amount sufficient to mask the test ear. Ralph F Naunton was the first to describe this phenomenon, which has since been known as "Naunton's masking dilemma."
METHODS: A formula was derived mathematically to predict when Naunton's masking dilemma might occur in air and bone conduction. Review of Ralph F Naunton's primary works and related publications was performed.
RESULTS: Our derived mathematical formulae predict when "Naunton's masking dilemma" may occur. During air conduction testing, a masking dilemma may occur when the sum of the air/bone gaps is greater than or equal to twice the interaural attenuation minus 15 dB (Σ ABGNTE+TE ≥ 2 × IA - 15 dB). During bone conduction testing, a masking dilemma may occur when the air-bone gap of the nontest ear is greater than or equal to the interaural attenuation minus 15 dB (ABGNTE ≥ IAAIR - 15 dB).
CONCLUSION: Naunton's masking dilemma imposes a significant limitation to conventional audiometric testing. To the best of our knowledge, we think this is the first time that Naunton's masking dilemma has been represented in a simplified mathematical equation.

PMID: 30531635 [PubMed - in process]

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Females with patellofemoral pain have impaired impact absorption during a single-legged drop vertical jump

Publication date: Available online 10 December 2018

Source: Gait & Posture

Author(s): Guilherme S. Nunes, Christian John Barton, Fábio Viadanna Serrão

Abstract

Background

Females with patellofemoral pain (PFP) have been reported to land with altered biomechanics in some, but not all studies. Kinematic alterations previously reported may indicate, and relate to potential impairments in absorbing impact.

Research question

To compare vertical ground reaction force (vGRF) and lower limb kinematics during single-legged drop vertical jumps in females with and without PFP; and establish the relationship between vGRF and kinematics during this task.

Methods

Fifty-two physically active females (26 with PFP and 26 controls) participated in the present cross-sectional study. Peak of vGRF was evaluated during landing; and lower limb kinematics in the sagittal and frontal planes during deceleration (landing) and acceleration (take-off) phases were evaluated.

Results

The PFP group had 11% greater vGRF (p < 0.01); and 13-24% lower hip, knee and ankle excursion in the sagittal plane during acceleration and deceleration phases (p ≤ 0.02) compared to the control group. No significant between group differences (p > 0.05) for hip, knee and ankle excursion in the frontal plane were identified. Greater impact was significantly correlated with reduced knee (r =–0.56), hip (r =–0.50) and ankle (r =–0.41) excursion in the sagittal plane during the acceleration phase in the control group, but not in the PFP group. No significant correlations were found between vGRF and kinematics variables during the deceleration phase in either group.

Significance

Impaired ability to absorb load and reduced lower limb movement in the sagittal plane during landing in females with PFP may provide separate treatment targets during rehabilitation.

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Concurrent Validity and Measurement Error of Stair Climb Test in People with Pre-radiographic to Mild Knee Osteoarthritis

Publication date: Available online 10 December 2018

Source: Gait & Posture

Author(s): Hirotaka Iijima, Kanako Shimoura, Ryo Eguchi, Tomoki Aoyama, Masaki Takahashi

Abstract

Background

Stair climbing is the task first affected in patients with knee osteoarthritis (OA); therefore, the precise measurement of time required to climb stairs is important to identify mobility limitations, particularly in the early phase of knee OA.

Research question

This study aimed to examine the test-retest reliability, measurement error, and concurrent validity of the stopwatch-based stair-climb test (SCT) in adults with pre-radiographic to mild knee OA.

Methods

Fifty-nine participants (mean age, 59.1 [range, 50–69] years; 72.9% female) with Kellgren and Lawrence grade ≤2 disease underwent an 11-step SCT (11-SCT) in accordance with the Osteoarthritis Research Society International recommended method while wearing pressure sensor-mounted standard shoes that is used as a gold standard procedure. Test-retest reliability, measurement errors, and the concurrent validity of the stopwatch-based 11-SCT were evaluated.

Results

The test-retest reliability of the stopwatch-based 11-SCT was excellent (intra-class correlation coefficient_1,1 [ICC_1,1], 0.952; 95% confidence interval [CI], 0.560 to 0.985; p <  0.001) and the minimal detectable change₉₅ was 0.102 s. Concurrent validity was excellent (ICC_2,1: 0.957; 95% CI: 0.661 to 0.986; p <  0.001).

Significance

The stopwatch-based 11-SCT had high test-retest reliability and high concurrent validity, which justify its clinical use for identifying mobility limitations in individuals with pre-radiographic to mild knee OA. A difference of 0.2 s in the stopwatch-based 11-SCT time would be considered a true difference beyond a 95% measurement error.

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Females with patellofemoral pain have impaired impact absorption during a single-legged drop vertical jump

Publication date: Available online 10 December 2018

Source: Gait & Posture

Author(s): Guilherme S. Nunes, Christian John Barton, Fábio Viadanna Serrão

Abstract

Background

Females with patellofemoral pain (PFP) have been reported to land with altered biomechanics in some, but not all studies. Kinematic alterations previously reported may indicate, and relate to potential impairments in absorbing impact.

Research question

To compare vertical ground reaction force (vGRF) and lower limb kinematics during single-legged drop vertical jumps in females with and without PFP; and establish the relationship between vGRF and kinematics during this task.

Methods

Fifty-two physically active females (26 with PFP and 26 controls) participated in the present cross-sectional study. Peak of vGRF was evaluated during landing; and lower limb kinematics in the sagittal and frontal planes during deceleration (landing) and acceleration (take-off) phases were evaluated.

Results

The PFP group had 11% greater vGRF (p < 0.01); and 13-24% lower hip, knee and ankle excursion in the sagittal plane during acceleration and deceleration phases (p ≤ 0.02) compared to the control group. No significant between group differences (p > 0.05) for hip, knee and ankle excursion in the frontal plane were identified. Greater impact was significantly correlated with reduced knee (r =–0.56), hip (r =–0.50) and ankle (r =–0.41) excursion in the sagittal plane during the acceleration phase in the control group, but not in the PFP group. No significant correlations were found between vGRF and kinematics variables during the deceleration phase in either group.

Significance

Impaired ability to absorb load and reduced lower limb movement in the sagittal plane during landing in females with PFP may provide separate treatment targets during rehabilitation.

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Concurrent Validity and Measurement Error of Stair Climb Test in People with Pre-radiographic to Mild Knee Osteoarthritis

Publication date: Available online 10 December 2018

Source: Gait & Posture

Author(s): Hirotaka Iijima, Kanako Shimoura, Ryo Eguchi, Tomoki Aoyama, Masaki Takahashi

Abstract

Background

Stair climbing is the task first affected in patients with knee osteoarthritis (OA); therefore, the precise measurement of time required to climb stairs is important to identify mobility limitations, particularly in the early phase of knee OA.

Research question

This study aimed to examine the test-retest reliability, measurement error, and concurrent validity of the stopwatch-based stair-climb test (SCT) in adults with pre-radiographic to mild knee OA.

Methods

Fifty-nine participants (mean age, 59.1 [range, 50–69] years; 72.9% female) with Kellgren and Lawrence grade ≤2 disease underwent an 11-step SCT (11-SCT) in accordance with the Osteoarthritis Research Society International recommended method while wearing pressure sensor-mounted standard shoes that is used as a gold standard procedure. Test-retest reliability, measurement errors, and the concurrent validity of the stopwatch-based 11-SCT were evaluated.

Results

The test-retest reliability of the stopwatch-based 11-SCT was excellent (intra-class correlation coefficient_1,1 [ICC_1,1], 0.952; 95% confidence interval [CI], 0.560 to 0.985; p <  0.001) and the minimal detectable change₉₅ was 0.102 s. Concurrent validity was excellent (ICC_2,1: 0.957; 95% CI: 0.661 to 0.986; p <  0.001).

Significance

The stopwatch-based 11-SCT had high test-retest reliability and high concurrent validity, which justify its clinical use for identifying mobility limitations in individuals with pre-radiographic to mild knee OA. A difference of 0.2 s in the stopwatch-based 11-SCT time would be considered a true difference beyond a 95% measurement error.

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