Jörg Schipper

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CONTEXT Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively. In both syndromes, pheochromocytomas as well as head and neck paragangliomas occur; however, details for individual risks and other clinical characteristics are(More)
Tissue sections of 32 squamous cell carcinomas (SCCs) of the head and neck were investigated for the expression of the epithelium-specific cell adhesion molecule E-cadherin. We found that E-cadherin expression is inversely correlated both with the loss of differentiation of the tumor and with lymph node metastasis. The well-differentiated SCCs expressed(More)
The purpose of this study was to evaluate 18F-DOPA whole-body positron emission tomography (18F-DOPA PET) as a biochemical imaging approach for the detection of glomus tumours. 18F-DOPA PET and magnetic resonance imaging (MRI) were performed in ten consecutive patients with proven mutations of the succinate dehydrogenase subunit D (SDHD) gene predisposing(More)
Down-regulation of E-cadherin, an intercellular adhesion molecule, and up-regulation of autocrine motility factor receptor (gp78) expressions have been shown to play a role in tumor cell invasion and metastasis. Monoclonal antibodies against E-cadherin and gp78 were used to stain serial snap-frozen sections of 12 normal bladder and 83 bladder carcinoma(More)
CONTEXT Paraganglioma syndrome includes inherited head and neck paragangliomas (HNPs) and adrenal or extra-adrenal pheochromocytomas and are classified according to the susceptibility genes SDHB, SDHC, and SDHD. In contrast with those with germline mutations of the SDHB and SDHD genes, clinical and genetic data on patients with mutations of SDHC are scarce.(More)
This cadaver study assessed the value of navigation in cochlear implant surgery. Cochlear implantation was simulated on a cadaver using a Stryker-Leibinger navigation system and a Nucleus 24 Contour implant. A conventional surgical strategy consisting of mastoidectomy, posterior tympanotomy, and cochleostomy was performed. The navigated surgical procedure(More)
Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three(More)
Fanconi anemia (FA) is a rare inherited disorder clinically characterized by congenital malformations, progressive bone marrow failure and cancer susceptibility. At the cellular level, FA is associated with hypersensitivity to DNA-crosslinking genotoxins. Eight of 17 known FA genes assemble the FA E3 ligase complex, which catalyzes monoubiquitination of(More)
In cases of acute unilateral deafness, no consensus exists as to whether tympanotomy and sealing of the round window should be performed routinely. To further address this issue, we conducted a retrospective study of pre-, intra-, and postoperative findings in 97 patients who had undergone exploratory tympanotomy (EXT) after the onset of sudden and severe(More)
The objective of the study was to determine the temporal occurrence of cochlear obliteration following translabyrinthine vestibular schwannoma resection. A retrospective chart review, cross-sectional study, and sequential analysis of the time series were performed. The retrospective study included patients undergoing translabyrinthine resection for stage(More)