0000000000434671
AUTHOR
A. Keilmann
Hearing loss in Fabry disease: data from the Fabry Outcome Survey
Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients. Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear-related symptoms. Pure-tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age- and sex-specific normal values (International Organization for Standardization, ISO 7029). When compared to an age-matched population (ISO 70…
Recurrent laryngeal nerve paralysis (RLNP) following esophagectomy for carcinoma.
Abstract Background The aim of this study was to report the frequency of post-operative recurrent laryngeal nerve paralysis (RLNP) following resection for esophageal carcinoma. Patients and methods Four hundred and four patients were studied. Diagnosis of post-operative RLNP was performed by indirect laryngoscopy. Tumour characteristics, surgical approach and perioperative morbidity and mortality following esophageal resection were recorded. Results Sixty patients were diagnosed with post-operative RLNP, of whom 47 had a unilateral and 16 a bilateral lesion. RLNP was more frequently diagnosed after transhiatal resection with cervical esophagogastrostomy as compared to abdomino-thoracic rese…
Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.
We present the postnatal diagnosis of a de novo der(18)t(18;22)(p11.32;q11.21)pat, resulting in an unbalanced 45,XX,der (18)t(18;22) karyotype in a girl with conductive hearing loss on the left and ptosis of the right upper eye-lid. Unilateral ptosis was also observed in the patient’s 2 years and 8 months younger sister, who grows noticeably faster and appears to be a much quicker learner. After speech therapy the patient was eventually placed in normal school. The haploinsufficient 16.4-Mb region on chromosome 22pter→q11.21 contains 10 genes as well as many predicted genes, pseudogenes, and retrotransposed sequences with unknown functions. This observation may prove useful for prenatal dia…
Biografisch-narrative Intervention bei Aphasie – ein innovativer Ansatz zur Steigerung der Lebensqualität
Menschen mit Aphasie erleben massive Beeintrachtigungen in ihrer Lebensqualitat und ein verandertes Identitatsgefuhl. Soziokulturelle Theorien sehen das Konzept narrativer Identitat als essentiell fur Lebensqualitat. Dies meint, dass mittels narrativer Kompetenzen, welche bei Aphasie eingeschrankt sind, eine Selbstthematisierung im Austausch mit anderen erfolgt, wodurch Identitatsarbeit geschieht. In dem Projekt wird ein interdisziplinarer biografisch-narrativer Ansatz zur Stimulation von Identitatsarbeit in angepasster Form entwickelt und evaluiert. In einem Vorher-Nachher-Design mit einer Follow-up-Untersuchung wurden biografisch-narrative Gesprache in 5 Einzel- und 7 Gruppensitzungen dur…
Akustikusneurinom als Ursache einer progredienten kindlichen Hörstörung
Background: Neurinomas of the vestibulocochlear nerve unrelated to neurofibromatosis in children are extremely rare. Only 20 cases in children under the age of 16 are reported in the literature. Progressive unilateral hearing loss, tinnitus, vertigo and neurological deficits due to cranial nerve or brainstem compression are clinical signs. Patient and Results: We report on the case of a 12-years-old girl with an unilateral hearing loss, progressing to total deafness. Otoacoustic emissions were normal. In the MRI a large cerebellopontine angle tumor was found, identified as schwannoma of the vestibulocochlear nerve. Conclusions: The importance of MR Imaging in children with progressive unila…
Left-hemispheric dominance for articulation: a prospective study on acute ischaemic dysarthria at different localizations.
Dysarthria is a frequent symptom in cerebral ischaemia. However, speech characteristics of these patients have not previously been investigated in relation to lesion site in a prospective study. We investigated the auditory perceptual features in 62 consecutive patients with dysarthria due to a single, non-space-occupying cerebral infarction confirmed by MRI. Standardized speech samples of all patients were stored within 72 h after stroke onset using a digital tape recorder. Speech samples were assessed independently by two experienced speech therapists, who were unaware of the clinical and neuroradiological findings, using an interval scale ranging from 0 to 6. Separately assessed were fea…