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Siggelkow H Melzer A Nolte W Karsten K Hoppner W Hufner M 《European journal of endocrinology / European Federation of Endocrine Societies》2001,144(5):467-473
OBJECTIVE: Both multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are caused by germline mutations of the RET proto-oncogene. A broad spectrum of malignancy within and between families has been described with no clear genotype-phenotype correlation due to a scarcity of available data of large kindreds. DESIGN: Here we present the only known family with a germline mutation of codon 611 TGC to TTC (exon 10) in the RET proto-oncogene leading to a replacement of cysteine by phenylalanine (Cys611Phe or C611F). RESULTS: Twenty family members of this large kindred are gene carriers (GCs) and seven (5-13 years old) are potential carriers but have yet to be analysed. The clinical course of medullary thyroid carcinoma (MTC) in this family is characterized by a very slow evolution and progression of the tumour with no MTC-related death to date. Of 11 patients (30-69 years old) having undergone thyroidectomy six were classified as pT1, four as pT2 and one as C-cell hyperplasia according to the TNM system of the International Union Against Cancer. Due to cervical and mediastinal lymph node metastasis one patient (44 years old) had to be operated on a second time. The seven non-operated GCs of the fourth and fifth generation (17-26 years old) are yearly monitored with pentagastrin stimulation tests; one non-operated GC (43 years old) has refused any further investigations. Screening for primary hyperparathyroidism and phaeochromocytoma was negative in all cases. CONCLUSION: We suggest from these experiences that the general advice for thyroidectomy in early childhood should be modified in certain families, depending on genotype. 相似文献
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Weidner Kathrin Behnes Michael Schupp Tobias Hoppner Jorge Ansari Uzair Mueller Julian Lindner Simon Borggrefe Martin Kim Seung-hyun Huseyinov Aydin Ellguth Dominik Akin Muharrem Meininghaus Dirk Große Bertsch Thomas Taton Gabriel Bollow Armin Reichelt Thomas Engelke Niko Reiser Linda Akin Ibrahim 《Journal of interventional cardiac electrophysiology》2022,63(1):13-20
Journal of Interventional Cardiac Electrophysiology - The study sought to assess the prognostic impact of chronic kidney disease (CKD) in patients with electrical storm (ES). ES represents a... 相似文献
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K. Hoppner W. E. Phillips T. K. Murray J. S. Campbell 《Canadian Medical Association journal》1968,99(20):983-986
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Kathrin Weidner Michael Behnes Jonas Rusnak Tobias Schupp Jorge Hoppner Gabriel Taton Linda Reiser Armin Bollow Thomas Reichelt Dominik Ellguth Niko Engelke Philipp Kuche Uzair Ansari Ibrahim El‐Battrawy Siegfried Lang Christoph A. Nienaber Muharrem Akin Kambis Mashayekhi Dennis Ferdinand Christel Weiß Martin Borggrefe Ibrahim Akin 《Internal medicine journal》2019,49(6):711-721
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K Hoppner J M McLaughlan B G Shah J N Thompson J Beare-Rogers J Ellestad-Sayed O Schaefer 《Journal of the American Dietetic Association》1978,73(3):257-260
Native food samples of caribou, seal, and arctic char were collected from resident Eskimos in Arctic Bay, N.W. T., and analyzed for nutrients. Caribou and seal meats were similar in protein and fat content in comparison with beef. Arctic char was above the average in protein and fat content for fish. Ascorbic acid was present in significant amounts only in baby seal liver. Thiamin, riboflavin, vitamin B12, folacin, and pantothenic acid content ranged from average to high for seal and carbiou meat, respectively, in comparison to published values for pork and beef. The vitamin B6 content of caribou meat was comparable to average values reported for pork and beef but was lower in seal meat. Baby seal liver contained similar levels of thiamin, riboflavin, vitamin B12, folacin, and pantothenic acid and less vitamin B6 than those reported for pork, beef, calf, and lamb liver. Arctic char was not appreciably different in these vitamins from other fish. The iron content of the Eskimo foods was higher than the meat group of the mixed Canadian diet. The macro mineral nutrients in these foods were comparable to those in beef and fish. The amino acid composition of caribou and seal meat was similar to beef, except that seal meat had a lower content of sulfur-containing amino acids and a much higher content of histidine. The sample of seal and arctic char were relatively high in concentrations of long-chain unsaturated fatty acids. 相似文献
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Anselm C. Hoppner Christoph Dehnicke Frank Kerling Friedhelm C. Schmitt 《Zeitschrift für Epileptologie》2016,29(1):7-15
Although musicogenic epilepsy is a rare condition, several contemporary and extensive reviews have described the clinical features of this reflex epilepsy syndrome. Resective surgery and recently functional neuroimaging have provided information that helps explain the neurobiology of this rare epilepsy syndrome. We report two typical cases and give a short review of the literature, with a special emphasis on functional MRI investigations and postsurgical outcomes. 相似文献