1.Precise identification of a cryptic balanced translocation in a couple with recurrent spontaneous abortions using C-MoKa technique.
Rui FAN ; Yaru LIU ; Tingting JI ; Xiaojuan XU ; Xuening DING ; Xiaoling MA
Chinese Journal of Medical Genetics 2026;43(1):64-69
OBJECTIVE:
Chromosome conformation-based karyotype analysis (C-MoKa) technology was used to test a couple who had experienced multiple adverse pregnancies in order to provide them with genetic counseling and reproductive guidance.
METHODS:
A couple presented at the Reproductive Medicine Center of the First Hospital of Lanzhou University in 2023 was selected as the study subject. Through C-MoKa testing, copy number variation sequencing (CNV-seq), and preimplantation genetic testing for aneuploidy (PGT-A), it was found that the couple's repeatedly miscarried fetuses and abnormal embryos exhibited highly similar chromosomal structural abnormalities. Using C-MoKa, the potential genetic abnormalities in both partners were traced, and reproductive guidance was provided based on the result. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-09).
RESULTS:
CNV-seq analysis of the couple's miscarriage fetal chorionic villi showed del(18)(q21.2q23)(28.90 Mb) and dup(13)(q31.2q34)(26.26 Mb). Chromosomal karyotyping analysis of both partners showed no abnormality. From 2024 to 2025, the couple underwent three rounds of PGT-A assisted reproduction. The first embryo test showed del(13)(q31.2q34)(26.77 Mb) and dup(18)(q21.2q23)(29.08 Mb). The second embryo test showed dup(13)(q31.2q34)(26.26 Mb) and del(18)(q21.2q23)(28.90 Mb). And the third embryo test results showed complex chromosomal abnormalities. In 2025, after genetic counseling, the couple had opted C-MoKa test, which has detected no abnormality in the wife, but a balanced 46,XY,t(13;18)(q31.2;q21.2) translocation in the husband.
CONCLUSION
As a high-throughput sequencing method based on the three-dimensional conformation of chromatin, C-MoKa has the advantages of high resolution and high accuracy, and can accurately detect balanced translocations with similar banding patterns. It has therefore offered a powerful new tool for chromosomal analysis.
Female
;
Humans
;
Male
;
Pregnancy
;
Abortion, Habitual/genetics*
;
DNA Copy Number Variations
;
Karyotyping/methods*
;
Preimplantation Diagnosis
;
Translocation, Genetic
2.Study on the effect and mechanism of modified Yanghe decoction on bone destruction in rats with breast cancer bone metastasis
Shun LU ; Ang CAI ; Tingting FAN ; Weihua HE
China Pharmacy 2026;37(4):431-437
OBJECTIVE To explore the improvement effect and potential mechanism of modified Yanghe decoction on bone destruction in rats with breast cancer bone metastasis based on the receptor-interacting serine/threonine-protein kinase 1 (RIPK1)/RIPK3 pathway. METHODS The rat model of breast cancer bone metastasis was established by injecting a suspension of breast cancer cells into the bone marrow cavity. The rats with successful modeling were randomly divided into a model group (intragastric administration of equal volume of normal saline), modified Yanghe decoction low-, medium-, and high-dose groups (intragastric administration of corresponding decoction at 1.30, 2.60 and 5.20 g/kg, calculated by the dosage of crude drug), high-dose modified Yanghe decoction+si-RIPK1 group (intragastric administration of corresponding decoction at 5.20 g/kg, calculated by the dosage of crude drug; simultaneous injection of small interfering RNA for RIPK1 via the tail vein), and high-dose modified Yanghe decoction+si-NC group (intragastric administration of corresponding decoction at 5.20 g/kg, calculated by the dosage of crude drug; simultaneous injection of small interfering RNA for negative control via the tail vein), with 12 rats in each group. Another 12 healthy rats were selected as the control group and were given the same volume of normal saline intragastrically, once a day, for 14 consecutive days. Body weight was measured before administration and at the end of the last administration. The mechanical pain threshold and thermal pain threshold were measured, and the bone destruction, pathological changes and osteoclast formation of the tibia were observed. The positive expression of receptor activator of nuclear factor-κB (RANK) and receptor activator of nuclear factor-κB ligand (RANKL) in the tibial tissue, as well as the phosphorylation levels of RIPK1, RIPK3 and mixed lineage kinase domain-like protein (MLKL) were detected. RESULTS Compared with the control group, the tumor cells of tibia tissues in rats of the model group showed significant proliferation and diffuse infiltration into the bone marrow cavity. Extensive areas of tumor necrosis of cells, severe bone destruction, thinning of the bone cortex, and damage to the bone trabeculae were observed. The body weight (before administration and at the end of the last administration), mechanical pain threshold, thermal pain threshold, and the phosphorylation levels of RIPK1, RIPK3 and MLKL were decreased significantly; the tumor volume, the proportion of bone destruction area, the number of osteoclasts, and the positive expressions of RANK and RANKL were increased/up-regulated significantly (P<0.05). Compared with the model group, the above pathological changes in the tibial tissues of rats in modified Yanghe decoction low-, medium- and high-dose groups were all alleviated, and all quantitative indicators showed dose-dependent improvement (P<0.05). After silencing RIPK1, the aforementioned beneficial effects of high-dose modified Yanghe decoction were significantly weakened (P<0.05).CONCLUSIONSModified Yanghe decoction can alleviate bone destruction in rats with breast cancer bone metastasis. The above effect is related to the activation of the RIPK1/RIPK3 pathway.
3.Discussion on Pathogenesis and Treatment of Esophageal Precancerous Lesions from the Perspective of "Turbidity Damaging the Clear and Harmonious"
Cong HE ; Tingting XU ; Yi WANG ; Jing KONG ; Xiao WANG ; Xiaosu WANG ; Shumiao FAN ; Shengliang ZHU ; Bingduo ZHOU
Journal of Traditional Chinese Medicine 2026;67(13):1397-1402
It is considered that "turbid pathogen damaging the clear, and the loss of clarity and harmony regulation" is the core pathogenesis of esophageal precancerous lesions, with turbid pathogen persisting throughout the disease course. Turbid pathogen encompasses qi turbidity, phlegm turbidity, stasis turbidity, and toxin turbidity, closely related to dietary indiscretion, emotional disharmony, spleen-stomach deficiency, and kidney deficiency failing to consolidate. Turbid pathogen undergoes a dynamic evolution process of qi constraint generating turbid→ phlegm-stasis transforming into toxin→turbidity toxin harming the healthy qi, corresponding to the pathological alterations of hypoxia, inflammation and immunosuppression within the tumor microenvironment. The overall therapeutic principle is to remove turbidity and restore clarity. In the early stage, targeting the hypoxic tumor microenvironment, the suggested treatment method is opening constraint and dispersing the block, regulating qi and remove turbidity, with emphasis on soothing liver and regulating stomach, raising the clear and directing the turbid downward. In the middle stage, targeting inflammatory microenvironment, the treatment aims to clear toxin and dissipate nodules, resolve stasis and eliminate turbid, emphasizing phlegm-stasis elimination, turbid-toxin resolution, and concurrent stomach qi protection. In the late stage, corresponding to immunosuppressive microenvironment, the method of boosting qi, nourishing yin, reinforcing healthy qi, and eliminating turbidity can be used, with focus on spleen-stomach tonification, kidney essence replenishment, and healthy qi reinforcement to expel pathogenic factors.
4.Effect of different doses of Botulinum toxin type A injected under ultrasound guidance combined with modified catheter-balloon localization for post-stroke cricopharyngeal dysfunction: a randomized controlled trial
Liubo FAN ; Tingting SHAN ; Baohua LIU ; Mimi LUO ; Luding ZHANG ; Minghui WANG
Chinese Journal of Rehabilitation Theory and Practice 2026;32(7):776-787
ObjectiveTo investigate the short-term efficacy and safety of different doses of Botulinum toxin type A (BTX-A) injected under ultrasound guidance combined with modified catheter-balloon localization for post-stroke cricopharyngeal dysfunction (CPD), and to explore a relatively appropriate dose. MethodsA total of 136 patients with post-stroke CPD admitted to Taizhou Hospital of Zhejiang Province from December, 2023 to February, 2026 were randomly assigned into control group, 50 U group, 70 U group and 100 U group, with 34 patients in each group. The control group received conventional rehabilitation, whereas the three BTX-A groups received conventional rehabilitation plus the corresponding dose of BTX-A injected under ultrasound guidance combined with modified catheter-balloon localization. Videofluoroscopic Swallowing Study (VFSS) scores, Functional Oral Intake Scale (FOIS) scores, Yale Pharyngeal Residue Severity Rating Scale (YPR-SRS) grades, Murray Secretion Severity Scale (MSS) grades and ultrasonographic parameters were compared before and two weeks after intervention. ResultsAfter intervention, FOIS scores improved significantly in all groups (|Z| > 2.843, P < 0.01), and YPR-SRS and MSS grades also showed significant improvements in all BTX-A groups (|Z| > 4.147, P < 0.001). Pairwise comparisons revealed that the order of improvement from best to worst for FOIS, YPR-SRS and MSS grades was the 100 U group, followed by 70 U group, and then 50 U group (P < 0.05). For VFSS scores, the effect of time, group and interaction were all significant (F > 9.68, P < 0.001); pairwise comparisons showed that 100 U group achieved the best outcomes (P < 0.001). Regarding the activity and velocity of the geniohyoid muscle, the effects of time, group and interaction were also significant (F > 7.34, P < 0.001); pairwise comparisons indicated that 100 U group outperformed the other groups in both activity and velocity (P < 0.001). For hyoid bone displacement distance and shortening rate, the effects of time and interaction were significant (F > 3.07, P < 0.05), and the main effects of time on duration and velocity were significant (P < 0.01); pairwise comparisons showed that the 100 U group had superior displacement distance and shortening rate compared to the other groups (P < 0.05). During the treatment and follow-up periods, no serious adverse event occurred in any group. ConclusionUltrasound-guided BTX-A injection assisted by modified catheter-balloon localization may further improve short-term swallowing function in patients with post-stroke CPD, with a dosage of 100 U.
5.Exploration and Practice of Performance Evaluation System for Large Medical Equipment Based on Internet of Things Technology.
Chang SU ; Caixian ZHENG ; Linling ZHANG ; Yunming SHEN ; Kai FAN ; Tingting DONG ; Hangyan ZHAO ; Xiaofeng WANG ; Dawei QIAO ; Kun ZHENG
Chinese Journal of Medical Instrumentation 2025;49(2):191-196
Medical equipment, as an important indicator of smart hospital evaluation, plays a vital role in hospital operations. To ensure the safe and efficient operation of medical equipment, a reasonable performance evaluation system is indispensable. This study introduces a platform based on Internet of Things (IoT) technology that connects medical devices and collects data, achieving standardized and structured data processing, and supporting online operational supervision. Through the Delphi method, a performance evaluation system for large medical equipment is constructed, including 4 primary indicators and 22 secondary indicators. DICOM data acquisition devices are used to achieve functions such as efficiency analysis, benefit analysis, usage evaluation, and decision-making support for medical equipment. The study is still in its early stages, and in the future, it is expected to integrate more types of equipment, achieve rational resource allocation, and significantly impact decision-making for the development of public hospitals.
Internet of Things
;
Delphi Technique
6.Protective effect of Bufei Yishen Formula against cigarette smoke extract-induced human bronchial epithelial cell damage and its mechanism.
Zhengyuan FAN ; Zihan SHEN ; Ya LI ; Tingting SHEN ; Gaofeng LI ; Suyun LI
Journal of Southern Medical University 2025;45(7):1372-1379
OBJECTIVES:
To evaluate the protective effect of Bufei Yishen Formula (BYF) against cigarette smoke extract (CSE)-induced injuries in human bronchial epithelial BEAS-2B cells and explore the underlying mechanism.
METHODS:
BEAS-2B cells exposed to CSE were treated with normal rat serum, BYF-medicated rat serum at low or high doses, pyrrolidine dithiocarbamate (PDTC, a NF-κB inhibitor), PDTC combined with high-dose BYF-medicated serum, or S-carbomethyloysteine (S-CMC, as the positive control). CCK-8 assay was used to determine the optimal concentration and treatment time of CSE, BYF-medicated serum and S-CMC. The treated cells were examined for inflammatory factor levels in the supernatant and cellular expressions of MUC5AC and MUC5B using ELISA, cell ultrastructural changes with transmission electron microscopy, and cell apoptosis rate using flow cytometry. The expression levels of TLR4/NF‑κB pathway-associated mRNAs and proteins were determined by qRT-PCR and Western blotting.
RESULTS:
CSE exposure significantly increased secretions of IL-1β, IL-6 and TNF-α, mRNA and protein expressions of MUC5AC and MUC5B, and early and total apoptosis rates in BEAS-2B cells, where the presence of apoptotic bodies was detected. CSE also significantly enhanced the mRNA and protein expressions of TLR4, I-κB, and NF-κB and reduced mRNA and protein expressions of AQP5. Treatments of the CSE-exposed cells with BYF-medicated serum, PDTC and S-CMC all significantly lowered inflammatory factor levels, MUC5AC and MUC5B expressions, and early and total cell apoptosis rates, and partly reversed the changes in cellular ultrastructure and mRNA and protein expressions of the TLR4/NF-κB pathway, and the effects were the most conspicuous following the combined treatment with high-dose BYF-medicated serum and PDTC.
CONCLUSIONS
BYF can inhibit cell apoptosis, inflammation and mucus hypersecretion in CSE-induced BEAS-2B cells by inhibiting the TLR4/NF-κB signaling pathway.
Humans
;
Epithelial Cells/cytology*
;
Drugs, Chinese Herbal/pharmacology*
;
NF-kappa B/metabolism*
;
Bronchi/cytology*
;
Smoke/adverse effects*
;
Apoptosis/drug effects*
;
Mucin 5AC/metabolism*
;
Cell Line
;
Toll-Like Receptor 4/metabolism*
;
Mucin-5B/metabolism*
;
Signal Transduction/drug effects*
;
Nicotiana
;
Rats
;
Thiocarbamates/pharmacology*
;
Animals
7.Gynostemma pentaphyllum ethanol extract ameliorates motor dysfunction in a Parkinson's disease mouse model through inhibiting neuronal apoptosis.
Tingting ZHAO ; Lanqiao HE ; Sen YAN ; Pengyu FAN ; Chong ZHANG ; Linghui ZENG
Journal of Zhejiang University. Medical sciences 2025;54(1):49-57
OBJECTIVES:
To investigate the protective effects and underlying mechanisms of Gynostemma pentaphyllum (GP)ethanol extract on motor dysfunction in a mouse model of Parkinson's disease (PD).
METHODS:
Eighty C57BL/6 male mice were randomly divided into five groups: control group, model group, levodopa group (positive control group), low-dose GP group, and high-dose GP group, with 16 mice per group. The PD model was induced by injection of 6-hydroxydopamine into the substantia nigra pars reticulata of the mice. Two weeks after 6-hydroxydopamine, positive control group received intraperitoneal injection of levodopa 10 mg·kg-1·d-1, while low-dose GP and high-dose GP groups received GP extract 100 or 200 mg·kg-1·d-1 orally for three weeks. After a 3-week-treatment, the effects of GP on motor dysfunction in 6-hydroxydopamine-induced PD were assessed using open field and CatWalk gait tests, while the effects on muscle strength were evaluated by forelimb grip strength. Immunofluorescence staining was used to detect the number of tyrosine hydroxylase (TH) positive neurons. The levels of dopamine and serotonin in the midbrain were determined by enzyme-linked immunosorbent assay. In addition, Western blotting was performed to detect the expression of mitogen-activated protein kinase (MAPK) family proteins such as p-extracellular signal-regulated kinase (ERK)1/2, p-p38 and p-c-Jun N-terminal kinase (JNK)1/2, and mitochondrial apoptosis pathway proteins such as B-cell lymphoma (Bcl)-2, Bcl-2 associated X protein (Bax), and cleaved-cysteine aspartic acid specific protease (caspase)-3.
RESULTS:
Behavioral experiments showed that GP significantly improved the spontaneous activity and motor coordination of PD mice (P<0.05). The forelimb grip strength was also increased by GP treatment (P<0.05), compared to the PD model group. In addition, compared with the model group, the number of TH-positive neurons in substantia nigra pars reticulata region, the levels of dopamine and serotonin in midbrain and the expression of p-ERK1/2 were significantly increased by GP treatment (all P<0.05), whereas the expression of p-p38 and p-JNK1/2, the ratio of Bax/Bcl-2 and cleaved-caspase-3/caspase-3 were significantly decreased (all P<0.05).
CONCLUSIONS
The results indicate that GP might increase dopamine and serotonin levels in the midbrain and promote the survival of dopaminergic neurons in substantia nigra pars reticulata by regulating the expression of phosphorylation of MAPK family proteins and the expression of mitochondrial apoptosis-related proteins, thereby ameliorating motor deficits in PD mice.
Animals
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Mice
;
Male
;
Gynostemma/chemistry*
;
Mice, Inbred C57BL
;
Apoptosis/drug effects*
;
Plant Extracts/therapeutic use*
;
Parkinson Disease/metabolism*
;
Disease Models, Animal
;
Neurons/pathology*
8.Research progress on macrophages and tumor ferroptosis
Fang LIU ; Tingting FAN ; Xiaoxia MA ; Qinglin LIU ; Che CHEN
International Journal of Laboratory Medicine 2025;46(9):1121-1125
Macrophages are closely related to tumor progression,and can promote tumor growth and pro-liferation by promoting inflammation,angiogenesis and immunosuppression and so on,as well as killing tumors by directly killing tumor cells and triggering specific immune responses.Iron death,as an iron-depend-ent cell death caused by lipid peroxidation,can effectively kill tumor cells when regulated from the perspective of iron homeostasis,and can also release pro-inflammatory factors,trigger inflammatory reactions,change the survival environment of tumors as well as reduce the immune susceptibility of tumor cells.In recent years,more and more studies have shown that macrophages and iron death are closely related.In this paper,the rela-tionship between macrophages and iron death in terms of their functional properties and targeting of tumors are mainly introduced,and an overview of the functional properties of the two differentiated phenotypes of macrophages for the treatment of iron death in tumors is provided.
9.Erythrocytapheresis for the treatment of high-altitude polycythemia
Wenchun LONG ; Dongmei WAN ; Wuyi FAN ; Xuexue LI ; Yan YE ; Zengmei SUN ; Tingting LI ; Zeng HE ; Xueping SUN
Chinese Journal of Blood Transfusion 2025;38(12):1695-1701
Objective: To investigate the efficacy and incidence of adverse reactions of therapeutic erythrocytapheresis in high altitude polycythemia (HAPC) population. Methods: A retrospective study was conducted on 243 HAPC patients who were either native residents or long-term workers in Xizang and underwent therapeutic erythrocytapheresis in the Chengdu Office Hospital of the People's Government of Xizang Autonomous Region from 2021 to 2023. A comparative study was carried out on the changes in blood routine, vital signs, skin color, serum iron metabolism data, and the incidence of adverse reactions before and after the procedure. Results: After erythrocytapheresis, significant decreases were observed in red blood cell (RBC) count (7.06±0.89×10
vs 6.08±0.93×10
/L, P<0.001], hemoglobin (HGB, 211.59±17.99 vs 182.76±19.83 g/L, P<0.001), hematocrit (Hct) [(65.30±6.45)% vs (55.56±8.12)%, P<0.001], serum iron (14.46±4.38 vs 11.77±3.78 μmol/L, P=0.003), total iron-binding capacity (126.62±4.47 vs 123.73±3.77 μmol/L, P=0.002), transferrin (1.88±0.41 vs 1.77±0.12 g/L, P=0.023), transferrin saturation [(11.32±3.11)% vs (9.43±2.78)%, P=0.004], serum ferritin (832.4±295.6 vs 665.3±249.2 ng/mL, P<0.001), systolic blood pressure (123.86±14.43 vs 118.51±13.68 mmHg, P<0.001) and diastolic blood pressure (81.68±9.54 vs 74.28±7.61 mmHg, P<0.001). In contrast, platelet count (Plt, 137.21±46.21 ×10
vs 147.94±50.66 ×10
/L, P<0.001) and oxygen saturation [(93.97±3.29)% vs (95.84±2.27)%, P<0.001] increased. No significant differences were found in white blood cell (WBC) count [5.35 (4.59, 6.44)×10
/L vs 5.43 (4.54, 6.53) ×10
/L, P=0.690], unsaturated iron-binding capacity (112.15±0.50 vs 111.96±0.25 μmol/L, P=0.074) and pulse rate (73.42±11.28 vs 73.19±7.18 beats/min, P=0.750). Furthermore, skin color of the face (conjunctiva, lips) and palms mitigated after therapeutic erythrocytapheresis, changing from purplish-red to red. The total incidence of adverse reactions during erythrocytapheresis was 13.98% (34/243), including citrate toxicity 12.75% (31/243), puncture site hematoma 0.82% (2/243) and blood volume imbalance 0.41% (1/243). Conclusion: Therapeutic erythrocytapheresis could rapidly decrease HCT, Hb, serum iron, transferrin and transferrin saturation levels in HAPC patients, with a low incidence of adverse reactions. Therefore, therapeutic erythrocytapheresis has broad clinical application prospects in Xizang Autonomous Region.
10.Efficacy and safety of argatroban anticoagulation in artificial liver treatment for patients with liver failure complicated with hepatic encephalopathy
Chaoyue FAN ; Tingting SU ; Hejuan DU ; Fanglei FAN ; Zhenzhen DONG ; Xiaoye GUO ; Zhihan YAN ; Xueshi ZHOU
Chinese Journal of Infectious Diseases 2025;43(10):584-589
Objective:To compare the anticoagulant efficacy and safety between argatroban and heparin in patients with liver failure complicated with hepatic encephalopathy undergoing artificial liver treatment.Methods:A total of 207 patients with liver failure complicated with hepatic encephalopathy who received artificial liver treatment in the intensive care unit (ICU) of Wuxi No.5 People′s Hospital from January 2021 to October 2024 were enrolled, including 105 cases in the argatroban group and 102 cases in the heparin group. Changes in coagulation function, hemoglobin (Hb), platelet (PLT) count, and model for end-stage liver disease (MELD) score before and after artificial liver treatment were compared between the two groups. The formation of deep vein thrombosis in the lower extremities, coagulation in the extracorporeal circulation circuit and plasma separator, bleeding at the deep venous catheter site were compared between the two groups. The 28-day survival outcome of the patient were recorded. Two independent sample t-test, rank sum test, and chi-square test were used for statistical comparisons, and the Kaplan-Meier method and log-rank test were used to analyze the survival rate of patients. Results:There were no statistically significant differences in activated partial thromboplastin (APTT), international normalized ratio (INR), Hb and PLT count before and after artificial liver treatment in the argatroban group ( Z=-1.74, -1.80, -1.26 and -0.52, respectively, all P>0.05), while the MELD score after treatment was lower than that before treatment and the difference was statistically significant ( t=6.49, P<0.001). After artificial liver treatment, the APTT in the argatroban group was 47.10(42.65, 51.90) s, which was shorter than that in the heparin group (56.05(50.02, 63.00) s). The INR, Hb, and PLT count in the argatroban group were 2.00(1.65, 2.54), 98.00(88.00, 112.00) g/L, and 92.00(75.50, 106.00)×10 9/L, respectively, which were all higher than those in the heparin group, which were 1.56(1.22, 1.93) g/L, 90.50(80.00, 104.75) g/L, and 74.00(64.75, 99.50)×10 9/L, respectively. The differences were all statistically significant ( Z=-7.16, -5.28, -3.05 and -3.32, respectively, all P<0.05). There was no statistically significant difference in MELD scores between the two groups ( P=0.250). The incidence of coagulation in the extracorporeal circulation circuit and plasma separator and bleeding at the deep venous catheter site in the argatroban group was 5.71%(6/105) and 1.90%(2/105), respectively, which were both lower than those in the heparin group (14.71%(15/102) and 9.80%(10/102), respectively). The differences were both statistically significant ( χ2=4.59 and 5.91, respectively, both P<0.05). At the end of the 28-day follow-up, the mortality rates in the argatroban group and the heparin group were 22.9%(24/105) and 34.3%(35/102), respectively, and the difference was not statistically significant ( χ2=3.33, P=0.068). There was no statistically significant difference in the 28-day survival rate between the argatroban group and the heparin group ( χ2=2.09, P>0.05). Conclusions:Argatroban has a relatively minor impact on PLT count and Hb when it is used in artificial liver treatment for patients with liver failure complicated with hepatic encephalopathy. The incidence of coagulation in extracorporeal circulation circuits and plasma separators is low, and the risk of bleeding at the deep venous catheters is low. Argatroban is highly safe, which provides a new anticoagulation option for patients with a high risk of bleeding.

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