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1.
Front Genet ; 13: 797813, 2022.
Article in English | MEDLINE | ID: mdl-35719406

ABSTRACT

Two chromosomal abnormalities are described in an infertile man suffering from teratozoospermia: balanced reciprocal translocation t (17; 22) (p11.2; q11.2) and a microduplication in the region 10q23.31. Twenty genes located on the breakpoints of translocation (e.g., ALKBH5, TOP3A, SPECC1L, and CDC45) are selected due to their high expression in testicular tissues and might be influenced by chromosome translocation. Four genes located on the breakpoints of microduplication including FLJ37201, KIF20B, LINC00865, and PANK1 result in an increased dosage of genes, representing an imbalance in the genome. These genes have been reported to be associated with developmental disorders/retardation and might be risk factors affecting spermatogenesis. Bioinformatics analysis is carried out on these key genes, intending to find the pathogenic process of reproduction in the context of the translocation and microduplication encountered in the male patient. The combination of the two chromosomal abnormalities carries additional risks for gametogenesis and genomic instability and is apparently harmful to male fertility. Overall, our findings could contribute to the knowledge of male infertility caused by genetic factors.

2.
Lab Med ; 52(6): 603-608, 2021 Nov 02.
Article in English | MEDLINE | ID: mdl-34390335

ABSTRACT

OBJECTIVE: To explore the diagnostic value of the coagulation marker D-dimer and its combination with the traditional marker C-reactive protein (CRP) in distinguishing bacterial meningitis (BM) from tuberculous meningitis (TM). METHODS: We performed a retrospective study on specimens from 173 patients with meningitis who were hospitalized at the First Affiliated Hospital of Guangxi Medical University, Guangxi, China, from 2012 through 2020. The patient records were divided into the BM group and the TM group, and hematological parameters D-dimer and CRP were evaluated for the 2 groups. RESULTS: The levels of D-dimer and CRP in the BM group were significantly higher than those levels in the TM group (P ˂.001 for each), and the sensitivity and specificity of the combined detection of the 2 markers was 86.3% to 100%; the area under the receiver operating characteristic (ROC) curve reached 0.983 (95% confidence interval [CI], 0.966-0.999). CONCLUSION: D-dimer testing has high specificity in distinguishing between BM and TM; CRP testing also has high sensitivity. The combined diagnosis of the 2 biomarkers helps to distinguish TM from BM.


Subject(s)
Meningitis, Bacterial , Tuberculosis, Meningeal , Biomarkers , C-Reactive Protein , China , Diagnosis, Differential , Fibrin Fibrinogen Degradation Products , Humans , Meningitis, Bacterial/diagnosis , ROC Curve , Retrospective Studies , Tuberculosis, Meningeal/diagnosis
3.
Clin Lab ; 67(2)2021 Feb 01.
Article in English | MEDLINE | ID: mdl-33616344

ABSTRACT

BACKGROUND: Early detection of tumors is beneficial to the treatment of patients. Certain indicators in the blood routine, such as red blood cell distribution width (RDW), are considered to be used to assess the patient's condition and prognosis. Mean platelet volume (MPV) is also used to assess the prognosis of patients. Carbohydrate antigen 153 (CA153) is considered to be a more specific antigen marker for breast cancer. The purpose of our study was to explore the diagnostic value of RDW, MPV, and CA153 for breast cancer (BC) and breast hyperplasia (BH). METHODS: The study included 104 breast cancer patients, 100 breast hyperplasia patients, and 100 healthy controls. CA153 was detected by an automatic electrochemical luminescence analyzer (Cobas e601, Roche Diagnostics, Switzerland). The concentration of RDW and MPV in serum was measured by Sysmex XN-10-B3 (Sysmex, Ja¬pan). RESULTS: Compared with the breast hyperplasia group, the RDW and CA153 of the breast cancer group were increased. The healthy control group, mammary gland hyperplasia group, and breast cancer were positively correlated with RDW and CA153. Logistic regression results show that increasing age, increasing RDW, and increasing CA153 can increase the risk of breast cancer. The area under the ROC (AUC) analysis showed that the combined specificity and sensitivity of the combined application of RDW, MPV, and CA153 for the identification of breast cancer is better than that of a single marker. CONCLUSIONS: The combined application of RDW, MPV, and CA153 can improve the differential diagnosis of breast cancer and breast hyperplasia.


Subject(s)
Breast Neoplasms , Mean Platelet Volume , Biomarkers, Tumor , Breast Neoplasms/diagnosis , Erythrocyte Indices , Female , Humans , Prognosis
4.
Iran J Public Health ; 48(9): 1732-1734, 2019 Sep.
Article in English | MEDLINE | ID: mdl-31700830

ABSTRACT

Chromosome aberration is associated with infertility and isochromosome is a rare chromosomal abnormality potentially associated with infertility or multiple miscarriages. Here we report a man of 29-yr-old diagnosed of infertility from China with rare isochromosome. Peripheral blood lymphocytes were obtained for chromosome G banding karyotyping. Hormones and other tests were performed. The semen analysis revealed Azoospermia. Complementary isochromosome of 46, XY, i(5)(p10),i(5)(q10) was identified. This is the first report of Complementary isochromosome of 46, XY, i(5)(p10),i(5)(q10).

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