Objective To investigate the changes and clinical significance of serum thymidine kinase 1(TK1) ,carbohydrate antigen 153 (CA153) and carcinoembryonic antigen(CEA) in the patients with breast cancer .Methods The levels of serum TK1 ,CA153 and CEA were detected in 92 inpatients with breast cancer ,66 patients with benign breast disease and 50 people undergoing the physical examination . The relationship between serum TK1 ,CA153 and CEA with the pathologic parameters in breast cancer was analyzed by the single factor a‐nalysis method .Results Serum TK1 ,CA153 and CEA levels in the breast cancer group were significantly higher than those in the benign breast disease group and control group ,the differences were statistically significant(P<0 .05) .The serum TK1 ,CA153 and CEA levels were related with the degree of pathological stage and lymph node metastasis(P<0 .05) .Conclusion The increase of serum TK1 ,CA153 and CEA levels has an important clinical significance in the diagnosis ,infiltration ,metastasis and severity of breast cancer .

Objective:To explore the genetic basis of eighteen patients with tetrahydrobiopterin deficiency (BH4D) from Gansu Province.Methods:Eighteen patients diagnosed with BH4D at Gansu Provincial Maternal and Child Health Care Hospital from January 2018 to December 2021 were selected as the study subjects. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing.Results:All of the thirty-six alleles of the eighteen patients were successfully determined by molecular genetic testing. Sixteen patients were found to harbor variants of the PTS gene, and two had harbored variants of the QDPR gene. Ten variants were detected in the PTS gene, with the most common ones being c. 259C>T (34.38%) and c. 286G>A (15.63%). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 259C>T was classified as a pathogenic variant, whilst the c. 286G>A, c. 166G>A, c. 200C>T, c. 272A>G, c. 402A>C, c. 421G>T, c. 84-291A>G and c. 317C>T were classified as likely pathogenic variants. A novel c. 289_290insCTT variant was classified as likely pathogenic (PM1+ PM2_Supporting+ PM3+ PP3+ PP4). The two variants (c.478C>T and c. 665C>T) detected in the QDPR gene were both classified as variants of uncertain significance (PM1+ PM2_Supporting+ PP3+ PP4). Conclusion:Genetic testing has clarified the pathogenic variants in these BH4D patients, which has enabled timely and accurate clinical intervention and treatment, and provided a reference for genetic counseling and reproductive guidance for their families.