Objective To detect the gene mutation of thyroid hormone receptor β ( TRβ ) in a family with thyroid hormone resistance syndrome.Methods The genomic DNA was extracted from peripheral blood leukocytes of the patient and his 5 family members.The exons 1-10 ofTRβ gene were amplified by PCR.The products of PCR were sequenced directly to detect the gene mutation.Results Two members of this family were confirmed to have the C y A transition mutation at nucleotide 1642 site within exon 10 of TRβ gene,which was a missense mutation causing the substitution of Proline to Threonine (P453T).The mutation was Heterozygous.Conclusions It was confirmed that the patient has TRβ gene mutation P453T in exon 10.The mutation may lead to the occurrence of thyroid hormone resistance syndrome.

Objective To investigate the clinical characteristics,surgical treatment and outcome for patients with duodenal stromal tumor.Methods Data of 40 patients with stromal tumor of duodenum were reviewed retrospectively.Results All patients received resection including local resection in 14 cases,segmental resection of the duodenum in 17 cases,and pancreaticoduodenectomy in 9 cases.38 cases were followed-up,and two were lost.The median follow-up was 59 months (range 3-240 mos).The 1,3,and 5-year overall survival rates were 92％,76％ and 68％,respectively.No recurrence was found in very-low-risk tumor (n =1) and low-risk turmors (n =4).The 1,3,and 5-year overall survival rates for intermediate-risk tumors were 95％,80％ and 70％,respectively;and those were 69 ％,31％,and 0 for high-risk tumors,respectively.14 of 33 cases (42％) suffered from recurrence after radical resection for intermediate or high-risk tumors.33 postoperative cases received treatment with Imatinib (Glivec) for more than one year,and one case developed recurrence at 2.5 years after operation.4 patients with synchronous liver metastasis received palliative resection and Imatinib,and two survived more than 1 year.Conclusion Surgery is the first choice for duodenal stromal tumor,and Imatinib should be administered for high-risk disease after surgery.