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OBJECTIVE: To analyze the relationship between hypercoagulable state and circulating tumor cells (CTCs) in peripheral blood, pathological characteristics, and prognosis of lung cancer patients. METHOD: A total of 148 patients with primary lung cancer diagnosed and treated in our hospital from January 2017 to January 2019 were selected as the research objects. According to the CTC test results, the patients were divided into CTC-positive group and CTC-negative group. Also, the coagulation index of patients was tested. According to the blood coagulation index test results, patients were divided into hypercoagulable group and non-hypercoagulable group. The relationship between hypercoagulable state and pathological characteristics of lung cancer patients was analyzed by single factor analysis and multiple logistic regression model. Kaplan-Meier survival curve was applied to analyze the relationship between hypercoagulable state and the prognosis of lung cancer patients. RESULTS: The platelets (PLTs), fibrinogen (FIB), D-dimer (D-D), and prothrombin time (PT) in CTC-positive group were significantly higher than those in CTC-negative group. There was no significant relationship between the patient's gender, smoking history, pathological type, and the hypercoagulable state of the patients. The proportion of patients aged 60 years or older, with TMN stage III or IV and lymph node metastasis, in the hypercoagulable group was significantly higher than that in the non-hypercoagulable group. Logistic regression analysis showed that there was an independent relationship between the patient's age, lymph node metastasis, and hypercoagulable state. As of January 2020, among the 148 patients with lung cancer follow-up, 5 patients were lost and 52 died. The median survival time of patients in the hypercoagulable group was 82 weeks, which was significantly lower than the 104 weeks in the nonhypercoagulable group. CONCLUSION: There is a certain relationship between hypercoagulable state and CTC positive in lung cancer patients. There is an independent relationship between the patient's age, lymph node metastasis, and the hypercoagulable state. The median survival time of patients in the hypercoagulable group was significantly lower than that in the non-hypercoagulable group.
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Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). These data give information for the genetic counseling of the IC that occurred in Chinese population.