The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma. Genetic testing is recommended in patients at clinically high risk if the classic genes are mutation negative. Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation.
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). Mutation analysis for all 3 costs fUS$2,700 per patient. Genetic classification is essential for downstream management of the patient and preemptive management of family members. Utilizing HNP as a model, we wanted to determine predictors to prioritize the most heritable clinical presentations and which gene to begin testing in HNP presentations, to reduce costs of genetic screening. Patients were tested for SDHB, SDHC, and SDHD intragenic mutations and large deletions. Clinical parameters were analyzed as potential predictors for
The oval and inferoanteriorly inclined shape of the malleus distal to the lateral process requires the use of a prosthesis capable of molding itself to its surface for reliable attachment. To achieve the correct perpendicular position of the piston as it relates to the stapedotomy opening, individualized adaptation of the prosthesis shaft and loop to the anterior position of the malleus should be made in situ.
Patients receiving repeated resection had the same survival rate as patients who had the tumor resected immediately with negative margins. The use of frozen sections yields a benefit for 15.6% of the operated patients and increases the overall 5-year survival rate by 2% to 3%.
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