Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Importance: Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking.

Experience with the use of a partial ossicular replacement prosthesis with a ball-and-socket joint between the plate and the shaft.

Background: In the further development of alloplastic prostheses for use in middle ear surgery, the Dresden and Cologne University Hospitals, working together with a company, introduced a new partial ossicular replacement prosthesis in 2011. The ball-and-socket joint between the prosthesis and the shaft mimics the natural articulations between the malleus and incus and between the incus and stapes, allowing reaction to movements of the tympanic membrane graft, particularly during the healing process.

Study Design: Retrospective evaluation

Methods: To reconstruct sound conduction as part of a type III tympanoplasty, partial ossicular replacement prosthesis with a ball-and-socket joint between the plate and the shaft was implanted in 60 patients, with other standard partial ossicular replacement prosthesis implanted in 40 patients and 64 patients.

First experience with the fiber-enabled CO2 laser in stapes surgery and a comparison with the "one-shot" technique.

Objective: To compare bone conduction after fiber-enabled CO2 laser perforation of the stapes footplate with conduction after the "one-shot" technique during stapedotomy in patients with otosclerosis.

Study Design: Retrospective clinical study.

Setting: Tertiary reference center.

Treatment of cervical paragangliomas: is surgery the only way?

Purpose: To analyze the results after surgery or stereotactic radiotherapy (SRT) in the treatment of cervical paragangliomas. Against this background, the decision-making algorithm used in the treatment of carotid body tumors (CBTs) and vagal paragangliomas (VPs) was reevaluated relative to the existing literature on the topic.

Materials And Methods: Retrospective study between 2000 and 2012.

Bone conduction after stapes surgery: comparison of CO2 laser and manual perforation.

Objective: To compare bone conduction after 2 different ways of perforating the stapes footplate during stapedotomy in patients with otosclerosis.

Study Design: Retrospective clinical study.

Setting: Tertiary reference center.

Head and neck paragangliomas: clinical and molecular genetic classification.

Head and neck paragangliomas are tumors arising from specialized neural crest cells. Prominent locations are the carotid body along with the vagal, jugular, and tympanic glomus. Head and neck paragangliomas are slowly growing tumors, with some carotid body tumors being reported to exist for many years as a painless lateral mass on the neck.

Function-preserving therapy for jugulotympanic paragangliomas: a retrospective analysis from 2000 to 2010.

Objectives/hypothesis: Treatment for jugulotympanic paragangliomas (JTPs) is shifting from radical toward function-preserving surgery. Alternative primary treatments are available, such as stereotactic radiotherapy (SRT) and radiosurgery. The aim of this study was to analyze the results after primary function-preserving surgery with or without adjuvant radiotherapy, or primary SRT, in the treatment of JTPs.

Results obtained with a new superelastic nitinol stapes prosthesis in stapes surgery.

Objective: The trimmable nitinol-polytetrafluoroethylene stapes prosthesis is a novel prosthesis that features a band-shaped nitinol loop. Unlike the SMart prosthesis, which uses the heat-activated self-crimping property of the alloy for fixation to the long process of the incus, this new prosthesis uses the property of superelasticity. The objective of the present study was to assess the hearing outcomes and intraoperative handling of the first 31 prostheses to be implanted in a primary stapes operation and to compare the results and experience thus obtained with those previously achieved with SMart prostheses.

Involvement of the anterior semicircular canal in posttraumatic benign paroxysmal positioning vertigo.

Objective: To study the involvement of the different semicircular canals in posttraumatic benign paroxysmal positioning vertigo (BPPV) with special reference to the anterior canal (AC).

Study Design: Retrospective review.

Setting: Tertiary referral center.

First experience with a new titanium clip stapes prosthesis and a comparison with the earlier model used in stapes surgery.

Objectives/hypothesis: The aim of the study was to gain the first clinical experience with a new titanium clip prosthesis in stapes surgery, and to compare this model with its predecessor. We placed particular emphasis on the practicability of fixing the prosthesis to the long process of the incus and on the postoperative improvement in hearing.

Study Design: Retrospective chart review.

Retrospective analysis of the results of implanting Nitinol pistons with heat-crimping piston loops in stapes surgery.

The study presented here evaluates the hearing results after the implantation of a new nickel-titanium (Nitinol) prosthesis in stapes surgery; on heating, this prosthesis crimps itself around the long process of the incus. In addition, we compare the outcome with results published in the literature. The medical records of all patients who underwent surgery for otosclerosis with implantation of a Nitinol piston during the period 2004-2006 were evaluated retrospectively.

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

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 succinate dehydrogenase subunit genes (SDHx).

Presynaptic protein distribution and odour mapping in glomeruli of the olfactory bulb of Xenopus laevis tadpoles.

The sensory input layer in the olfactory bulb (OB) is typically organized into spheroidal aggregates of dense neuropil called glomeruli. This characteristic compartmentalization of the synaptic neuropil is a typical feature of primary olfactory centres in vertebrates and most advanced invertebrates. In the present work we mapped the location of presynaptic sites in glomeruli across the OB using antibodies to presynaptic vesicle proteins and presynaptic membrane proteins in combination with confocal microscopy.

Response profiles to amino acid odorants of olfactory glomeruli in larval Xenopus laevis.

Glomeruli in the vertebrate olfactory bulb (OB) appear as anatomically discrete modules receiving direct input from the olfactory epithelium (OE) via axons of olfactory receptor neurons (ORNs). The response profiles with respect to amino acids (AAs) of a large number of ORNs in larval Xenopus laevis have been recently determined and analysed. Here we report on Ca(2+) imaging experiments in a nose-brain preparation of the same species at the same developmental stages.