[Increased report completeness and satisfaction with structured neurotological reporting in the interdisciplinary assessment of vertigo]. / Erhöhte Befundvollständigkeit und gesteigerte Zuweiserzufriedenheit bei strukturierter neurootologischer Befunderhebung in der interdisziplinären Schwindelabklärung.

BACKGROUND: Results of neurotological function diagnostics in the context of interdisciplinary vertigo assessment are usually formulated as free-text reports (FTR). These are often subject to high variability, which may lead to loss of information. The aim of the present study was to evaluate the completeness of structured reports (SR) and referrer satisfaction in the neurotological assessment of vertigo. MATERIALS AND METHODS: Neurotological function diagnostics performed as referrals (n = 88) were evaluated retrospectively. On the basis of the available raw data, SRs corresponding to FTRs from clinical routine were created by means of a specific SR template for neurotological function diagnostics. FTRs and SRs were evaluated for completeness and referring physician satisfaction (n = 8) using a visual analog scale (VAS) questionnaire. RESULTS: Compared to FTRs, SRs showed significantly increased overall completeness (73.7% vs. 51.7%, p < 0.001), especially in terms of patient history (92.5% vs. 66.7%, p < 0.001), description of previous findings (87.5% vs. 38%, p < 0.001), and neurotological (33.5% vs. 26.7%, p < 0.001) and audiometric function diagnostics (58% vs. 32.3%, p < 0.001). In addition, SR showed significantly increased referring physician satisfaction (VAS 8.8 vs. 4.9, p < 0.001). CONCLUSION: Neurotological SRs enable a significantly increased report completeness with higher referrer satisfaction in the context of interdisciplinary assessment of vertigo. Furthermore, SRs are particularly suitable for scientific data analysis, especially in the context of big data analyses.

[Deforming endonasal mass during pregnancy]. / Deformierende endonasale Raumforderung während der Schwangerschaft.

This article presents the case of a 33-year-old woman who consulted the authors' ENT clinic in the 39th week of pregnancy with recurrent epistaxis. A livid endonasal mass was found on the left side, subtotally displacing the nose and leading to deformation of the external nose. External biopsy provided no indications of malignancy. Postpartum CT of the paranasal sinuses revealed a mass destroying the cartilaginous nasal septum. Endoscopic resection of the finding was performed with preservation of the clinically sound nasal septal cartilage. Histopathological examination revealed a capillary hemangioma, which was classified as granuloma gravidarum due to its occurrence during pregnancy.

[Quality in the appraisal of head and neck sonography results in university hospitals-a random sample]. / Qualität in der Befundung von Kopf- und Halssonographien an Universitätskliniken ­ eine Stichprobe.

BACKGROUND: Ultrasound diagnostics are widely used and are standard for radiologists, otolaryngologists, and oral and maxillofacial surgeons in the diagnostic work-up of various pathologies. There is agreement that digital documentation is urgently needed at present to improve and standardize the quality of sonographic documentation. There are more and more publications on the implementation of standardized documentation of findings in imaging diagnostics, including head and neck sonography. OBJECTIVE: The present work aims to determine the quality of routine head and neck sonography findings on a random basis, according to the criteria of the Bavarian Association of Statutory Health Insurance Physicians (KVB) at a selection of German university otolaryngology departments (ENT). MATERIALS AND METHODS: A total of 70 randomly selected anonymized written findings including image documentation from seven ENT departments were retrospectively analyzed by an experienced KVB examiner concerning fulfilment of KVB criteria. The data were evaluated descriptively. RESULTS: Of the 70 reports, 69 were eligible for evaluation. The average documentation completeness was 80.6%. A total of 9 findings were correctly documented in full (13%). The documentation completeness of the individual departments was sorted in ascending order from 68.1% to 93%. With 88.5% vs. 75%, the hospitals with a structured report showed a higher level of completeness. In 75% of the cases the hospitals with structured reports also had digital solutions for reporting and image archiving. CONCLUSION: In general, there is potential for optimization regarding the completeness and quality of routinely prepared head and neck sonography findings at the selected university ENT departments. The implementation of structured reporting masks and the conversion of analogue documentation into digital solutions as well as digital networking with the hospital information systems, picture archiving and communication systems should be promoted. Supervision by senior doctors is required to ensure the quality of findings of inexperienced colleagues and to help to achieve standards in reporting.

[Acute neural hearing loss after cervical spine injection treatment]. / Akute neurale Schwerhörigkeit nach Injektionsbehandlung der Halswirbelsäule.

This article presents the case of a 39-year-old woman receiving injection therapy for cervicalgia. Due to accidental injection into the cervical spinal cord, the patient suffered from syncope, sensomotoric deficit, and bilateral neural hearing loss. Injection therapies for spinal disorders are routinely carried out in clinical practice, despite a low level of evidence and potentially severe complications. In the event of neuro-otologic complications, prompt evaluation by an otologist should be sought and rehabilitation initiated if necessary.

[Quality of life and vertigo after bilateral cochlear implantation : Questionnaires as tools for quality assurance]. / Lebensqualität und Schwindel bei bilateraler Cochleaimplantation : Fragebogeninstrumente zur Qualitätssicherung.

BACKGROUND: Persistent dizziness symptoms after cochlear implantation have an impact on quality of life. In this study, the effects of bilateral cochlear implants (CI) on quality of life as well as on subjective dizziness complaints are analyzed using questionnaires, some of which have never been applied before in these patient collectives. OBJECTIVE: In this article, questionnaires for the assessment of dizziness symptoms and quality of life are introduced in order to realize quality assurance. MATERIALS AND METHODS: A total of 32 patients with bilateral CI were questioned regarding dizziness symptoms and quality of life. The Nijmegen Cochlear Implant Questionnaire (NCIQ) was used. In the case of reported regular dizziness, the Vertigo Handicap Questionnaire (VHQ) and the Vertigo Symptom Scale (VSS) were also assessed. RESULTS: Persistent dizziness symptoms were shown in 8 of 32 patients. Quality of life was measured with the NCIQ and was improved significantly (p < 0.001) by 23.7% after the second CI. The dizziness symptoms changed slightly (VHQ -11.2%; VSS +16.4%) after the second implantation. CONCLUSION: The results show that the questionnaires are valid instruments for documenting quality of life and dizziness symptoms for quality assurance. These questionnaires may be applied as a complement or an alternative to device-based measurements of peripheral vestibular dysfunction.

Molecular cDNA cloning and tissue distribution of mRNA encoding a novel ATP-binding cassette (ABC) half-transporter.

The majority of proteins belonging to the ATP-binding cassette (ABC) superfamily catalyzes translocation of substrates across biological membranes. Employing a reverse transcription-PCR approach with degenerate primers, we have identified a full-length cDNA from rat hepatocytes encoding a novel ABC transporter termed umat (ubiquitously expressed mammalian ABC half-transporter). The deduced sequence of 836 amino acids comprises an N-terminal membrane anchor domain and a single conserved C-terminal nucleotide binding fold, specifying umat as an ABC half-transporter. While the first 250 amino acid positions are highly divergent from other ABC transporters, clusters of conserved residues are evident along the rest of the protein. The greatest sequence similarity was observed with the fission yeast heavy metal tolerance protein hmt1 (44.5% identity in a 626-amino-acid overlap). Umat mRNA, expressed in all tissues analyzed, was most abundant in testis. Substantial umat mRNA expression in cultured primary rat hepatocytes suggests that hepatocyte cultures should represent an adequate model for investigation of umat function and regulation.

S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements.

We report on a method suitable for screening large regions (>3 kb) of mtDNA for structural changes of <500 bp and their localization. Heteroduplexes consisting of a wild-type and a mutant strand are cleaved by S1nuclease when single-stranded loops are present due to deletions or duplications/insertions. This strategy was successfully applied to screen the muscle mtDNA of 20 patients with mitochondrial encephalomyopathies. In three of them, an altered cleavage pattern was observed caused by a homoplasmic 9 bp deletion as shown by subsequent mapping and sequencing studies.

Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.

In four children with hypoparathyroidism and deafness as initial major manifestations of Kearns-Sayre syndrome, a unique pattern of mitochondrial DNA rearrangements was observed. Hypocalcemic tetany caused by PTH deficiency started between age of 6-13 y and was well controlled by small amounts of 1.25-(OH)2-cholecalciferol. Rearranged mitochondrial genomes were present in blood cells of all patients and consisted of partially duplicated and deleted molecules, created by the loss of 7813, 8348, 8587, and 9485 bp, respectively. The deletions were localized between the origins of replication of heavy and light strands and encompassed at least eight polypeptide-encoding genes and six tRNA genes. Sequence analysis revealed imperfect direct repeats present in all rearrangements flanking the break-points. The duplicated population accounted for 25-53% of the mitochondrial genome and was predominant to the deleted DNA (5-30%) in all cases. The proportions of the mutant populations (30-75%) correlated with the age at onset of the disease. We conclude that, unlike heteroplasmic deletions, pleioplasmic rearrangements may escape selection in rapid-dividing cells, distribute widely over many tissues, and thus cause multisystem involvement. Hypoparathyroidism and deafness might be the result of altered signaling pathway caused by selective ATP deficiency.

Gene polymorphism at position -308 of the tumor-necrosis-factor-alpha (TNF-alpha) in multiple sclerosis and it's influence on the regulation of TNF-alpha production.

Tumor-necrosis-factor alpha (TNF-alpha) is a major mediator of the inflammatory immune response and may play an important role in the pathogenesis and progression of Multiple Sclerosis (MS). Increased TNF-alpha levels of cerebrospinal fluid (CSF) and peripheral blood were found in patients with chronic progressive MS and patients with acute relapses, but not in the stable form of the disease. Considering the association of different TNF-alpha alleles with diverse autoimmune diseases we sequenced the TNF-alpha promotor region (-674 to +201) of 23 patients with relapsing/remitting MS, of 27 patients with chronic progressive MS (21 patients had primary progressive course and six patients had a secondary progressive course) and of 22 healthy controls, who had no history of MS in their families. In three of 21 patients (14%) with primary chronic progressive MS a homozygous point-mutation at position -308 could be demonstrated where guanine (G) was substituted by adenosine (A). This mutation could neither be detected in patients with relapsing/remitting MS nor in healthy controls. However, 40% of the patients with relapsing/remitting MS and 43% of the primary chronic progressive MS patients were heterozygous at position -308 for G/A, whereas only 32% of healthy controls showed this heterogeneity. The genetic variations were demonstrated by polymerase chain reaction (PCR)-amplification of the TNF-alpha promotor-region and consecutive direct automatic sequencing. Functional analysis of the promoter region using the chloramphenicol-acetyltransferase (CAT) assay revealed spontaneous production with the homozygous mutation at -308 only.

Deletion screening of mitochondrial DNA via multiprimer DNA amplification.

We report an application of multiprimed polymerase chain reaction (PCR) which allows a rapid, nonradioactive detection of deletions in mitochondrial DNA using EDTA-blood and muscle samples. The use of two primer sets consisting of three forward and five reverse primers, respectively, allows a competitive PCR resulting in significant amplification products only in the presence of deletion-harbouring DNA species. Under the conditions described, deletions causing Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO) have been successfully detected. The location of the primers on mitochondrial DNA used in this study should allow identification and localization of most of the large-scale deletions (i.e. more than 1 kb) of mitochondrial DNA reported so far.