Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).

In about 20% of non-syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We identified two new families with heterozygous truncating DIAPH1 mutations (p.Ala1210Serfs*31 and p.Arg1213*). In contrast to the extensively studied original DFNA1 family, hearing loss was not confined to low frequencies, but congenital manifestation and rapid progression were confirmed. In line with a recent unrelated study, we identified an association with thrombocytopenia, reclassifying DFNA1 as a syndrome. Consequently, we suggest to include the blood count into the initial clinical workup of patients with autosomal dominant hearing loss to guide the genetic diagnosis. We provide the first data on DIAPH1 expression in the organ of Corti, where it localizes to the inner pillar cells, at the base of the outer hair cells. Homozygous truncating DIAPH1 mutations located N-terminally to the DFNA1 mutations have recently been identified in autosomal recessive microcephaly. It is therefore noteworthy that we found DIAPH1 expression also in spiral ganglion neurons and in the barrier between the myelinating glia of the peripheral nervous system and oligodendrocytes that form the myelinating glia of the central nervous system (CNS).

Physical activity and multiple sclerosis: new insights regarding inactivity.

OBJECTIVES: There is increasing recognition that physical activity has beneficial consequences among persons with multiple sclerosis (MS), but there is concern regarding the current degree of physical inactivity in this population because of limitations with previous research and increased recognition of health behaviors in MS. This study compared physical activity levels between large samples of persons with mild MS and matched controls using validated measures of physical activity. MATERIALS AND METHODS: The sample included 77 cases of MS and 77 controls matched on age, height, weight, and gender. Physical activity was assessed using five measures, namely the Godin Leisure-Time Exercise Questionnaire (GLTEQ), International Physical Activity Questionnaire (IPAQ), and activity counts per day, step counts per day, and time spent in moderate-to-vigorous physical activity (MVPA) per day by accelerometry. RESULTS: There were statistically significant differences between groups in accelerometer activity counts (t = -3.87, P = 0.0001), accelerometer step counts (t = -4.29, P = 0.0001), time spent in MVPA (t = -2.39, P = 0.01), GLTEQ scores (t = -3.83, P = 0.0001), and IPAQ scores (t = -3.42, P = 0.0001). The average effect size across all five measures was d = -0.59 and indicated that persons with MS overall were moderately less physically active than the matched controls. CONCLUSIONS: The primary finding was a moderate reduction in physical activity among those with MS, but the magnitude was substantially smaller than reported in a published meta-analysis. Importantly, the degree of physical inactivity can likely be overcome through the delivery of behavioral interventions for increasing physical activity and this should translate into meaningful consequences for persons with MS.

Laryngeal movements in saxophone playing: video-endoscopic investigations with saxophone players. A pilot study.

In a pilot study, motions of the larynx and hypopharynx and diaphragm during saxophone playing of two wind instrumentalists were documented by fiberoptic video-endoscopy and fluoroscopy. Velopharyngeal closure is sufficient, even under conditions of flexible transnasal laryngoscopy. During blowing to play the saxophone the larynx is kept in a constant low position, equivalent to that in singing. The laryngeal vestibule is slightly narrowed. After abduction in inspiration, vocal folds are partly adducted during the entire duration of the tone produced. Piano-forte-glissando maneuvers are performed with vocal folds in the paramedian position. The larynx seems to participate actively in saxophone playing by regulating the airflow. We also performed fluoroscopy of diaphragm movements. The overlapping competencies of woodwind playing and singing are discussed with regard to breathing technique of students and performers.

Paediatric treatment costs and the HIV epidemic.

As the AIDS epidemic puts additional strains on the already overburdened health care systems in sub-Saharan Africa, it becomes more important to estimate the cost of the epidemic in terms of health personnel and drug treatments. A retrospective review of 250 randomly selected paediatric admissions to a referral hospital in Malawi was undertaken. Groupings of "possible/probable AIDS" and "probably not AIDS" were used in a comparative analysis of treatment costs. Estimated costs of treatments were significantly lower than those calculated in a study from Zimbabwe using different methodology. Meningitis was the most expensive condition to treat and accounted for a greater percentage of overall cost than either acute respiratory infection, diarrhoeal disease or measles.

[The activity of the supraglottal sphincter during phonation]. / Die Aktivität des supraglottalen Sphinkters bei der Phonation.

By means of the measurement of the aperture of the upper laryngeal sphincter it is shown that the sphincter constriction increases when the pitch is lowered and/or the voice intensity is raised. The sphincter movement does not result from the action of extrinsic laryngeal muscles. Moreover, the action of the adductor muscles results in a constriction of the supraglottal sphincter. Out of this group of muscles the lateral thyroarytenoid muscle is dominant. Since it is the strongest muscle of the group of adductors, it also activates the glottal and the supraglottal sphincters, and only this muscle guarantees glottal closure at a relaxed vocalis muscle (low pitch) and/or high subglottal pressure (high intensity). EMG data acquired from the lateral thyroarytenoid muscle at phonation at various pitch levels and different voice intensities confirm the assumed muscular function. The EMG activity increases with descending pitch level and/or with increasing voice intensity.