ABSTRACT
Objective To analyze clinical risk factors for radioiodine(RAI)-refractoriness of DTC with distant metastasis and do survival analysis.Method The clinical data of 77 differentiated thyroid cancer(DTC) patients with distant metastasis admitted to the department of radionuclide therapeutics of Qilu Hospital from Jan 2002 to Sep 2015 were collected to make the retrospective analysis by dividing into radioiodine-refractory(RAI-R) group and radioiodine-efficient(RAI-E) group.Result (1)In DTC patients treated by 131I, there are 77(7.15%) patients with distant metastasis.Among DTC with distant metastasis, 25(32.47%) patients are identified as RAI-R DTC with average age of (56.2±16.0) years old, median age of 57 years old, and male-to female ratio of 1∶2.57.(2)Univariate analysis shows that age of distant metastasis older than 45 years and pathological type of follicular thyroid cancer(FTC) are two risk factors related to RAI-refractoriness.Logistic regression analysis indicates that age of distant metastasis older than 45 years and pathological type of FTC are the independent risk factors for RAI-refractoriness of DTC with distant metastasis.(3)3-year and 5-year survival rates of the 25 RAI-R DTC patients with distant metastasis are 75% and 62%,while RAI-E DTC patients were all alive.The survival of RAI-R DTC with distant metastasis is significantly worse than RAI-E DTC with distant metastasis.Conclusions (1)In the DTC with distant metastasis, the rate of RAI-R DTC is not low, and it is 32.47%.Females of RAI-R DTC are more than males.(2)Age of distant metastasis older than 45 years and pathological type of FTC are independent risk factors for RAI-refractoriness of DTC with distant metastasis.(3)The survival rate of RAI-R DTC with distant metastasis was significantly lower than that of RAI-E DTC with distant metastasis.
ABSTRACT
Objective To investigate the low density lipoprotein receptor (LDLR)gene and apolipoprotein (Apo) B gene mutation in a Chinese family with familial hypercholesterolemia(FH) and give the kindrids clinical check-ups. Methods After physical examination, the kindreds underwent ECG and ultrasound checks. Blood samples were tested for lipid profiles. The promoter and all eighteen exons of LDLR gene were investigated by using PCR and agarose gel electrophoresis in combination with DNA sequence analysis. The results were compared with the normal sequences in GenBank and FH database ( www. ucl. ac. uk/fh ) to find mutations. In addition, the apolipoprotein B100 gene for known mutations (R3500Q,R3531C,R3501W and R3480W)that cause familial defective ApoB100 (FDB)was also tested using the same method. Results A novel homozygous G ＞ A mutation at the 1581 bp of exon 10 was detected in the proband and his siblings. It caused a substitution of amimo acid Glu to Gly at codon 496. A novel heterozygous G ＞A mutation at the 1581 bp of exon 10 was detected in his parents. No mutations of R3500Q,R3531C,R3501W and R3480W of ApoB100 were observed. ECGs were normal. Atherosclerosis were found in all family members by ultrasound checks. Conclusions The homozygous G ＞ A mutation at the 1581 bp of exon 10 was first determined in our country. The change of amino acid Glu to Gly is responsible for FH of the family. The type of the gene mutation was not found in the FH database( www. ucl.ac. uk/ih). It's a new type of LDLR mutation.