1.SMARCB1-deficient renal medullary carcinoma without sickle cell trait: clinicopathological and molecular characteristics
Huizhi ZHANG ; Jun HOU ; Xiaoqun YANG ; Qiuyuan XIA ; Suying WANG ; Yifen ZHANG ; Hong CHEN ; Xiaohui DING ; Heli WANG ; Ming ZHAO
Chinese Journal of Pathology 2025;54(8):838-844
Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.
2.Septicemia caused by Bacillus cereus in premature low birth weight in-fants:3 cases report and literature review
Pei LI ; Xinmao ZHAO ; Rui LI ; Qing YANG ; Xiaoning YUAN ; Huizhi ZHANG ; Yan XING
Chinese Journal of Infection Control 2025;24(2):258-263
Objective To summarize the characteristics and sources of infection risk of Bacillus cereus(B.cereus)septicemia in low birth weight(LBW)infants,and provide reference for infection prevention and control.Methods Characteristics of 3 LBW infants with B.cereus septicemia were reported and analyzed,relevant literatures were searched for systematically summarizing the characteristics and sources of infection risk of B.cereus septicemia in infants.Results Among 3 LBW infants reported in this paper,2 died and 1 was cured.No clear infection source was found in the environment through object surface sampling analysis.A total of 43 cases were reported in the pre-vious literatures,41 cases had reported on survival status,the mortality was 36.6%.The main risk factors for in-fection were auxiliary ventilation,umbilical vein catheterization or central vein catheterization and enteral feeding.In the reported 3 cases with clear sources of infection,the pathogens came from mother's milk,decoration area,sur-face of infant incubator and ultrasonic probe.Conclusion Premature LBW infants with B.cereus septicemia have high mortality and poor prognosis,which is a healthcare-associated infectious disease seriously threatening the life and health of LBW infants.Neonatal intensive care unit(NICU)and relevant departments of healthcare-associated infection(HAI)management need to pay attention to the prevention,monitoring,early detection,as well as active diagnosis and treatment of HAI caused by this bacteria.
3.Buqi-Tongluo Decoction inhibits osteoclastogenesis and alleviates bone loss in ovariectomized rats by attenuating NFATc1, MAPK, NF-κB signaling.
Yongxian LI ; Jinbo YUAN ; Wei DENG ; Haishan LI ; Yuewei LIN ; Jiamin YANG ; Kai CHEN ; Heng QIU ; Ziyi WANG ; Vincent KUEK ; Dongping WANG ; Zhen ZHANG ; Bin MAI ; Yang SHAO ; Pan KANG ; Qiuli QIN ; Jinglan LI ; Huizhi GUO ; Yanhuai MA ; Danqing GUO ; Guoye MO ; Yijing FANG ; Renxiang TAN ; Chenguang ZHAN ; Teng LIU ; Guoning GU ; Kai YUAN ; Yongchao TANG ; De LIANG ; Liangliang XU ; Jiake XU ; Shuncong ZHANG
Chinese Journal of Natural Medicines (English Ed.) 2025;23(1):90-101
Osteoporosis is a prevalent skeletal condition characterized by reduced bone mass and strength, leading to increased fragility. Buqi-Tongluo (BQTL) decoction, a traditional Chinese medicine (TCM) prescription, has yet to be fully evaluated for its potential in treating bone diseases such as osteoporosis. To investigate the mechanism by which BQTL decoction inhibits osteoclast differentiation in vitro and validate these findings through in vivo experiments. We employed MTS assays to assess the potential proliferative or toxic effects of BQTL on bone marrow macrophages (BMMs) at various concentrations. TRAcP experiments were conducted to examine BQTL's impact on osteoclast differentiation. RT-PCR and Western blot analyses were utilized to evaluate the relative expression levels of osteoclast-specific genes and proteins under BQTL stimulation. Finally, in vivo experiments were performed using an osteoporosis model to further validate the in vitro findings. This study revealed that BQTL suppressed receptor activator of NF-κB ligand (RANKL)-induced osteoclastogenesis and osteoclast resorption activity in vitro in a dose-dependent manner without observable cytotoxicity. The inhibitory effects of BQTL on osteoclast formation and function were attributed to the downregulation of NFATc1 and c-fos activity, primarily through attenuation of the MAPK, NF-κB, and Calcineurin signaling pathways. BQTL's inhibitory capacity was further examined in vivo using an ovariectomized (OVX) rat model, demonstrating a strong protective effect against bone loss. BQTL may serve as an effective therapeutic TCM for the treatment of postmenopausal osteoporosis and the alleviation of bone loss induced by estrogen deficiency and related conditions.
Animals
;
NFATC Transcription Factors/genetics*
;
Drugs, Chinese Herbal/pharmacology*
;
Ovariectomy
;
Osteoclasts/metabolism*
;
Female
;
Osteogenesis/drug effects*
;
Rats, Sprague-Dawley
;
Rats
;
NF-kappa B/genetics*
;
Osteoporosis/genetics*
;
Signal Transduction/drug effects*
;
Bone Resorption/genetics*
;
Cell Differentiation/drug effects*
;
Humans
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RANK Ligand/metabolism*
;
Mitogen-Activated Protein Kinases/genetics*
;
Transcription Factors
4.Septicemia caused by Bacillus cereus in premature low birth weight in-fants:3 cases report and literature review
Pei LI ; Xinmao ZHAO ; Rui LI ; Qing YANG ; Xiaoning YUAN ; Huizhi ZHANG ; Yan XING
Chinese Journal of Infection Control 2025;24(2):258-263
Objective To summarize the characteristics and sources of infection risk of Bacillus cereus(B.cereus)septicemia in low birth weight(LBW)infants,and provide reference for infection prevention and control.Methods Characteristics of 3 LBW infants with B.cereus septicemia were reported and analyzed,relevant literatures were searched for systematically summarizing the characteristics and sources of infection risk of B.cereus septicemia in infants.Results Among 3 LBW infants reported in this paper,2 died and 1 was cured.No clear infection source was found in the environment through object surface sampling analysis.A total of 43 cases were reported in the pre-vious literatures,41 cases had reported on survival status,the mortality was 36.6%.The main risk factors for in-fection were auxiliary ventilation,umbilical vein catheterization or central vein catheterization and enteral feeding.In the reported 3 cases with clear sources of infection,the pathogens came from mother's milk,decoration area,sur-face of infant incubator and ultrasonic probe.Conclusion Premature LBW infants with B.cereus septicemia have high mortality and poor prognosis,which is a healthcare-associated infectious disease seriously threatening the life and health of LBW infants.Neonatal intensive care unit(NICU)and relevant departments of healthcare-associated infection(HAI)management need to pay attention to the prevention,monitoring,early detection,as well as active diagnosis and treatment of HAI caused by this bacteria.
5.SMARCB1-deficient renal medullary carcinoma without sickle cell trait: clinicopathological and molecular characteristics
Huizhi ZHANG ; Jun HOU ; Xiaoqun YANG ; Qiuyuan XIA ; Suying WANG ; Yifen ZHANG ; Hong CHEN ; Xiaohui DING ; Heli WANG ; Ming ZHAO
Chinese Journal of Pathology 2025;54(8):838-844
Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.
6.Clinicopathological features analysis of 7 cases with sarcomatoid carcinoma of the pancreas
Yijie MA ; Huizhi ZHANG ; Caide LU ; Shengdong WU ; Yiwen YANG ; Yangke HU ; Ke WANG
Chinese Journal of Pancreatology 2024;24(5):338-343
Objective:To investigate the clinicopathologic features of sarcomatoid carcinoma of the pancreas.Methods:The clinicopathological data of 7 cases with sarcomatoid carcinoma of the pancreas admitted in the Affiliated Lihuili Hospital of Ningbo University from September 2013 to August 2021 were retrospectively analyzed, including clinical manifestations, laboratory examination, imaging examination, pathological examination of tissue specimens, surgical methods and adjuvant treatments. Expressions of mesenchymal markers and epithelial markers in tumor tissues were determined by immunohistochemical staining.Results:Among the 7 cases of sarcomatoid carcinoma of the pancreas, there were 4 male and 3 female. The patient age ranged from 51 to 88 years old, and the mean age was 69 years old. All the patients underwent CT examimation before surgery. 3 tumors were located in the head, 3 in the body and 1 in the tail of the pancreas. CT examination also showed that 4 tumors were cystic solid and 3 were cystic. Six patients underwent radical surgery and one underwent partial resection for biopsy. Microscopically, the tumor was predominantly composed of sarcomatoid spindle-shaped cells. Immunohistochemical staining showed that the tumor expressed both mesenchymal markers vimentin and epithelial marker CK7, CK19, CK(pan) and CAM5.2. The overall prognosis of the patients was poor, 4 cases died within 1 year after surgery, and the other 3 cases survived without recurrence.Conclusions:The clinical manifestations of sarcomatoid carcinoma of the pancreas were not typical, but the pathological and immunohistochemical features are obvious and the prognosis is poor.
7.Application of data mining algorithms in research on traditional Chinese medicine formula
Huizhi LI ; Xiaoling ZHOU ; Yujie YANG ; Xinyou ZHANG
China Pharmacy 2024;35(1):112-118
In recent years, data mining algorithms have been widely employed in scientific research within the field of traditional Chinese medicine (TCM). The data mining algorithms are used to effectively handle and analyze the complex data in TCM formulas, providing a rational explanation for the mechanism of action. This method has proven particularly useful in uncovering patterns of compatibility and frequent combinations of herbs in TCM, thereby enhancing the reliability and accuracy of clinical diagnosis, target screening, and the study of new drugs. This paper reviews and analyzes 147 papers on TCM formula research that utilize data mining algorithms. The results indicate that data mining algorithms play a unique advantage in six sub- areas, including the study on the mechanism of action in TCM formula, the dose-efficacy of TCM formulas, the identification of core drugs pairs/groups, mining the relationships among “formulas-drug-symptom”, the discovery of new formulas, and mining the compatibility law. Notably, association rules and clustering algorithms are the most representative.
8.Advances in surgical strategies for ossification of posterior longitudinal ligament involving the C 2 segment.
Teng LIU ; Guoning GU ; Chenguang ZHAN ; Haishan LI ; Huizhi GUO ; Yongxian LI ; Guoye MO ; Kai YUAN ; Shuncong ZHANG ; Zhidong YANG ; Yongchao TANG
Chinese Journal of Reparative and Reconstructive Surgery 2023;37(6):742-747
OBJECTIVE:
To evaluate the application of surgical strategies for the treatment of cervical ossification of the posterior longitudinal ligament (OPLL) involving the C 2 segment.
METHODS:
The literature about the surgery for cervical OPLL involving C 2 segment was reviewed, and the indications, advantages, and disadvantages of surgery were summarized.
RESULTS:
For cervical OPLL involving the C 2 segments, laminectomy is suitable for patients with OPLL involving multiple segments, often combined with screw fixation, and has the advantages of adequate decompression and restoration of cervical curvature, with the disadvantages of loss of cervical fixed segmental mobility. Canal-expansive laminoplasty is suitable for patients with positive K-line and has the advantages of simple operation and preservation of cervical segmental mobility, and the disadvantages include progression of ossification, axial symptoms, and fracture of the portal axis. Dome-like laminoplasty is suitable for patients without kyphosis/cervical instability and with negative R-line, and can reduce the occurrence of axial symptoms, with the disadvantage of limited decompression. The Shelter technique is suitable for patients with single/double segments and canal encroachment >50% and allows for direct decompression, but is technically demanding and involves risk of dural tear and nerve injury. Double-dome laminoplasty is suitable for patients without kyphosis/cervical instability. Its advantages are the reduction of damage to the cervical semispinal muscles and attachment points and maintenance of cervical curvature, but there is progress in postoperative ossification.
CONCLUSION
OPLL involving the C 2 segment is a complex subtype of cervical OPLL, which is mainly treated through posterior surgery. However, the degree of spinal cord floatation is limited, and with the progress of ossification, the long-term effectiveness is poor. More research is needed to address the etiology of OPLL and to establish a systematic treatment strategy for cervical OPLL involving the C 2 segment.
Humans
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Longitudinal Ligaments/surgery*
;
Ossification of Posterior Longitudinal Ligament/surgery*
;
Treatment Outcome
;
Osteogenesis
;
Decompression, Surgical/methods*
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Cervical Vertebrae/surgery*
;
Laminoplasty/methods*
;
Kyphosis/surgery*
;
Retrospective Studies
9.AI Cytomorphology Combined with DNA-image Cytometry for Identifying Benign and Malignant Pleural Effusion and Ascites
Yang JIANG ; Huizhi YU ; Ya GAO ; Yu SHEN ; Min MAO ; Chongmei LIU
Cancer Research on Prevention and Treatment 2023;50(4):390-396
Objective To explore the diagnostic value of artificial intelligence (AI) cytology combined with DNA-image cytometry (DNA-ICM) auxiliary diagnostic system for the identification of benign and malignant pleural effusion and ascites. Methods Liquid-based cytology technology (LCT), DNA-ICM, AI, and AI combined with DNA-ICM were used to identify benign and malignant pleural effusion and ascites specimens in 360 cases, and their sensitivity, specificity, accuracy, Kappa value, Youden index and AUC were statistically analyzed. Results The sensitivity, specificity, and accuracy of AI combined with DNA-ICM in detecting benign and malignant pleural effusion and ascites were 95.23%, 94.12%, and 94.44%, respectively, which were higher than those of the three other separate detection methods (all
10.Epidemic characteristics of foodborne disease outbreaks in Mengla County, Yunnan Province from 2017 to 2021
Chunmei LIU ; Ling SUN ; Jun BAI ; Qi MAO ; Jing ZHU ; Huizhi HE ; Jinfang CHENG ; Xiaowen NIU ; Xiaomin YANG ; Hongyuan YANG ; Huiping LUO ; Guomin HE
Shanghai Journal of Preventive Medicine 2022;34(10):1002-1006
ObjectiveTo analyze the epidemic characteristics of foodborne disease outbreaks in Mengla County, Yunnan Province, so as to provide basis for formulating corresponding prevention and control measures. MethodsThe data of foodborne disease outbreaks in Mengla County, Yunnan Province from 2017 to 2021 in the national "foodborne disease outbreak monitoring system" were collected. The time, population, region, place, pathogenic factors and inducing links of the events were statistically analyzed. ResultsFrom 2017 to 2021, a total of 68 incidents were reported, including 526 cases and 5 deaths. The total incidence rate was 23.40% and the case fatality rate was 0.95%. The peak period was from May to July, with the largest number of reported events in July. The reporting areas were mainly Mengla Town (35.29%), Guanlei Town (11.76%) and Mengpeng Town (10.29%). The main place of the incident was family (76.47%). The main pathogenic factors were plant toxins (79.41%), mainly through the ingestion of wild mushrooms (68.52%), improper processing of green beans (12.96%) and aconitum (9.26%). ConclusionAccording to the epidemiological characteristics of Mengla County, we should focus on the public education of health knowledge in key areas and places, especially on the identification of wild mushrooms, to prevent accidental eating. At the same time, we should strengthen the monitoring and risk assessment of foodborne diseases, find potential risks as soon as possible, issue early warning and forecast in time, and constantly improve the clinical treatment ability of poisoned patients.

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