Objective To discuss clinical diagnosis and treatment of multiple endocrine neoplasia ( MEN) 2A,and report the mutation of RET proto-oncogene in a pedigree of three patients with MEN 2A. Methods Bilateral adrenalectom...Objective To discuss clinical diagnosis and treatment of multiple endocrine neoplasia ( MEN) 2A,and report the mutation of RET proto-oncogene in a pedigree of three patients with MEN 2A. Methods Bilateral adrenalectomy was performed on two of the three展开更多
A patient with an apparent sporadic medullary thyroid carcinoma was tested for RET germline mutations by Sanger sequencing of RET exons 10, 11, and 13-16. The patient was heterozygous for two known mutations causative...A patient with an apparent sporadic medullary thyroid carcinoma was tested for RET germline mutations by Sanger sequencing of RET exons 10, 11, and 13-16. The patient was heterozygous for two known mutations causative of Multiple Endocrine Neoplasia type 2 disorder, and both mutations were within codon 620 of RET exon 10, c.1859G > T (p.C620F) and c.1860C > G (p.C620W). In order to determine if these adjacent mutations were in cis or in trans, an unlabeled probe method and high-resolution melting analysis were utilized. The mutations were confirmed to occur in cis, representing a novel mutation, c.1859_1860delinsTG (p.C620L). Sanger sequencing of parental samples did not identify any changes at codon 620, so the p.C620L mutation is also de novo. The early age of onset for medullary thyroid carcinoma and the presence of lymph node metastasis in this patient suggests individuals with the p.C620L mutation should be treated and screened (for pheochromocytomas and parathyroid hyperplasia) as Multiple Endocrine Neoplasia type 2 patients with other RET codon 620 mutations (American Thyroid Association risk level B).展开更多
【目的】探讨泛影葡胺在小肠梗阻诊治中的临床价值。【方法】回顾性分析2010年6月至2014年6月本科室收治的173例小肠梗阻患者的临床资料,其中男97例,女76例,年龄（64±18.7）16～92岁。手术治疗91例,82例患者给予保守治疗,根据诊断...【目的】探讨泛影葡胺在小肠梗阻诊治中的临床价值。【方法】回顾性分析2010年6月至2014年6月本科室收治的173例小肠梗阻患者的临床资料,其中男97例,女76例,年龄（64±18.7）16～92岁。手术治疗91例,82例患者给予保守治疗,根据诊断方法的不同将保守治疗分为石蜡油组（32例）和泛影葡胺组（50例）,分别经胃灌注石蜡油和泛影葡胺。两组患者注药后每隔6～8 h 行透视或 X 线摄片评价疗效,并记录两组患者首次自主排气或排便时间、梗阻症状缓解、住院时间等指标。同时严密观察病情变化,如出现剖腹探查指征则及时剖腹探查。【结果】171例患者均痊愈出院,2例患者因多脏器功能衰竭死亡。泛影葡胺组首次自主排气或排便时间、梗阻症状缓解、住院时间均明显小于石蜡油组。【结论】胃管注入泛影葡胺对小肠梗阻的诊治及手术指征的评判具有重要意义。展开更多
文摘Objective To discuss clinical diagnosis and treatment of multiple endocrine neoplasia ( MEN) 2A,and report the mutation of RET proto-oncogene in a pedigree of three patients with MEN 2A. Methods Bilateral adrenalectomy was performed on two of the three
文摘A patient with an apparent sporadic medullary thyroid carcinoma was tested for RET germline mutations by Sanger sequencing of RET exons 10, 11, and 13-16. The patient was heterozygous for two known mutations causative of Multiple Endocrine Neoplasia type 2 disorder, and both mutations were within codon 620 of RET exon 10, c.1859G > T (p.C620F) and c.1860C > G (p.C620W). In order to determine if these adjacent mutations were in cis or in trans, an unlabeled probe method and high-resolution melting analysis were utilized. The mutations were confirmed to occur in cis, representing a novel mutation, c.1859_1860delinsTG (p.C620L). Sanger sequencing of parental samples did not identify any changes at codon 620, so the p.C620L mutation is also de novo. The early age of onset for medullary thyroid carcinoma and the presence of lymph node metastasis in this patient suggests individuals with the p.C620L mutation should be treated and screened (for pheochromocytomas and parathyroid hyperplasia) as Multiple Endocrine Neoplasia type 2 patients with other RET codon 620 mutations (American Thyroid Association risk level B).
文摘【目的】探讨泛影葡胺在小肠梗阻诊治中的临床价值。【方法】回顾性分析2010年6月至2014年6月本科室收治的173例小肠梗阻患者的临床资料,其中男97例,女76例,年龄（64±18.7）16～92岁。手术治疗91例,82例患者给予保守治疗,根据诊断方法的不同将保守治疗分为石蜡油组（32例）和泛影葡胺组（50例）,分别经胃灌注石蜡油和泛影葡胺。两组患者注药后每隔6～8 h 行透视或 X 线摄片评价疗效,并记录两组患者首次自主排气或排便时间、梗阻症状缓解、住院时间等指标。同时严密观察病情变化,如出现剖腹探查指征则及时剖腹探查。【结果】171例患者均痊愈出院,2例患者因多脏器功能衰竭死亡。泛影葡胺组首次自主排气或排便时间、梗阻症状缓解、住院时间均明显小于石蜡油组。【结论】胃管注入泛影葡胺对小肠梗阻的诊治及手术指征的评判具有重要意义。
