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.

BACKGROUNDThe prevalence of thyroid nodules (TN) is increasing rapidly. This study analyzed the epidemiological and clinical characteristics of TN in surgically treated patients and identified the risk factors for malignant nodules (MN) to provide more understanding of the differential diagnosis of TN.

METHODSA total of 6 304 TN cases who underwent thyroid surgery were included in this retrospective study. The clinical data were collected to evaluate the clinical and epidemiological characteristics and related risk factors for MN. The nature of TN (benign nodules (BN) or MN), medical records, laboratory data, and imaging data were analyzed. The risk factors for MN were screened using Spearman's rank correlation analysis and nonconditional binary Logistic regression analysis.

RESULTSThe number of surgically treated TN cases increased yearly. A total of 34.33% of cases were MN and 65.67% were BN. Up to 56.74% of these cases underwent unnecessary surgery. Among the MN cases, papillary thyroid carcinoma accounted for 94%, in which 46.71% coexisted with benign thyroid disease and 32.28% with multiple foci. Single-related factor analysis showed that age, employment, disease duration, history of breast nodules and/or hypertension, the levels of serum thyroid-stimulating hormone (TSH), thyroglobulin antibody (TgAb), and thyroid peroxidase antibody (TPoAb), and ultrasound features of TN were related to MN. Stepwise nonconditional binary Logistic regression analysis showed that 13 factors may be the independent risk factors for MN, including <40 years old, previous history of breast nodules and/or hypertension, disease duration <1 month, employment, hypoechoic nodule, irregular nodules, nodule calcification, solid echo nodule, fuzzy boundary, rich blood flow within nodules, abnormal lymph nodes around the neck, nodule diameter <1 cm, and abnormally high TgAb.

CONCLUSIONSOur results demonstrate a rapid increase in surgically treated TN cases and ratio of MN and indicate unnecessary surgeries in some cases. This study also suggest that age, duration of thyroid disease, history of breast disease and/or hypertension, the levels of serum TSH, TgAb, and TPoAb, and ultrasound features of TN are related to MN, and some of these factors may be the risk factors for MN.

Adult ; China ; epidemiology ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Risk Factors ; Thyroid Neoplasms ; epidemiology ; Thyroid Nodule ; epidemiology