1.Relationship Between YWHAQ Expression and Clinicopathological Features and Prognosis of Patients with Gastric Adenocarcinoma
Xueqing LIU ; Libo YANG ; Linhai LI ; Ping SHENG ; Sicheng LIU ; Lihua LI
Cancer Research on Prevention and Treatment 2025;52(5):393-399
Objective To investigate the expression of YWHAQ protein in gastric adenocarcinoma tissues and its correlation with clinical pathological features and prognosis. Methods A total of 127 patients with gastric cancer who underwent radical surgery were enrolled. Clinical data and postoperative cancer tissue samples were collected from the patients. Immunohistochemistry was used to detect the protein expression of YWHAQ in gastric adenocarcinoma tissues. The relationship between YWHAQ expression and clinical pathological features and prognosis was analyzed. Bioinformatics prediction was performed to identify potential pathways regulated by YWHAQ in gastric adenocarcinoma. A protein-protein interaction network for YWHAQ was constructed using the STRING database. Results YWHAQ gene expression was significantly higher in gastric adenocarcinoma tissues than in normal tissues (P<0.05). The expression level of the YWHAQ protein was significantly correlated with age, tumor invasion depth, lymph node metastasis, and tumor stage (P<0.05). Kaplan-Meier survival analysis showed that patients with high YWHAQ expression had significantly poorer long-term survival than those with low expression (P<
2.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies.
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
OBJECTIVE:
To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.
METHODS:
A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).
RESULTS:
Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal.
CONCLUSION
The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans
;
Female
;
Pregnancy
;
Aneuploidy
;
Prenatal Diagnosis/methods*
;
Karyotyping
;
Retrospective Studies
;
Polymerase Chain Reaction/methods*
;
Chromosome Disorders/genetics*
;
Adult
;
Trisomy 13 Syndrome/diagnosis*
;
Trisomy 18 Syndrome/genetics*
;
Down Syndrome/genetics*
3.Genetic analysis of a phenotypically normal male with SRY gene-positive 46,XX/46,XY tetrameric chimerism.
Weiguo ZHANG ; Mengxue WU ; Zhi YANG ; Feiyan PAN ; Zhizhi HE ; Yiyang ZHU
Chinese Journal of Medical Genetics 2025;42(12):1502-1507
OBJECTIVE:
To investigate the clinical characteristics and genetic etiology of a male with a normal phenotype and SRY gene-positive 46,XX/46,XY tetrazoospermia chimerism.
METHODS:
A male patient with an abnormal peripheral blood chromosomal karyotype detected at the Infertility Center of Taizhou Hospital of Zhejiang Province on December 2, 2013 was selected as the study subject. Peripheral venous blood samples were collected from the proband and his family members, together with a semen sample from the proband. Chromosomal karyotype analysis, red blood cell blood group identification, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH), sex-determining region Y (SRY) gene detection, and short tandem repeat (STR) microsatellite marker analysis were performed on the peripheral venous blood sample from the proband. Routine semen analysis, sperm FISH, and STR testing were also conducted. STR verification was performed on both parents. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: k20201009).
RESULTS:
The proband, a 37-year-old male, had normal secondary sexual characteristics and external genitalia development. The chromosomal karyotype of his peripheral blood sample was 46,XX[94]/46,XY[6]. ABO blood group typing was positive for Rh(D) type O and negative for Rh(D) type A, indicating the presence of two red blood cell populations. CMA result was arr[GRCh37](1-22)×2,(XX)×1. Autosomal and X chromosome SNP genotypes were BB-BB, AB-AB, and AA-AA, making it impossible to identify homozygous/heterozygous chimerism. FISH detection of interphase nuclei showed nuc ish XX[92]/XY[8]. Testing of the SRY gene was positive. STR analysis showed a single X peak (no Y peak) at the AMEL locus, 10/12 at the Penta D locus, and no third allele at other loci. Routine semen analysis were normal. Sperm FISH detection showed haploid nuclei nuc ish X[53]/Y[47]. Sperm STR analysis revealed an X/Y bimodal distribution at the AMEL locus and a 9/14 distribution at the Penta D locus, with no third allele observed at other loci. Above results suggested that the proband's blood and germ cell lines had originated from a heterozygous chimera formed by the fusion of two different zygotes.
CONCLUSION
Combined genetic techniques confirmed that the proband's peripheral blood AMEL genotype is X/X, while the sperm is X/Y. The Penta D locus showed a bi-allelic heterozygous pattern of 10/12 in the peripheral blood sample and 9/14 in the sperm sample, suggesting that the proband is a tetrazygotic chimera resulted from the fusion of 46,XX/46,XY zygotes.
Humans
;
Male
;
Adult
;
Chimerism
;
Microsatellite Repeats
;
Sex-Determining Region Y Protein/genetics*
;
Phenotype
;
Genes, sry
;
In Situ Hybridization, Fluorescence
;
Karyotyping
4.Study on efficacy and safety of retroperitoneal single-port and multi-port laparoscopic adrenal tumor resection
Yongchang PU ; Yong WANG ; Linhai LIU ; Yang ZHANG ; Leibo GONG ; Zhangcheng LIU ; Chuan GUO
Chongqing Medicine 2024;53(14):2173-2176,2181
Objective To investigate the efficacy and safety of retroperitoneal single-port laparoscopic (LESS) adrenal tumor resection.Methods The clinical data of 130 patients receiving multi-port and single-port laparoscopic adrenal tumor resection in this hospital from January 2015 to March 2023 were retrospec-tively analyzed.There were 50 cases in the LESS group and 80 cases in the traditional laparoscopic adrenal tumor resection (LA) group.The age,gender,tumor location,complicating underlying diseases and tumor size were collected in the two groups.The related perioperative indicators were compared between the two groups. Results The operation time[(95±52)min vs. (101±58)min],drainage tube indwelling time[(4.9±1.5)d vs. (6.7±1.0)d],postoperative incision satisfaction degree and pain situation had statistically significant differences between the LESS group and LA group (P<0.05).The intraoperative bleeding volume[(20.2±13.2)mL vs. (25.6±11.3)mL]and hospitalization duration[(5.9±1.3)d vs. (7.8±1.0)d]had no statisti-cal differences between the two groups (P>0.05).No intraoperative and postoperative complications oc-curred in the two groups.There was 1 case of conversion to open operation in the LA group.Conclusion The LESS adrenal tumor resection is safe and effective,and the incision is more beautiful compared with multi-port laparoscopic operation.
5.Mesenchymal Stem Cell-Derived Exosomes are Effective for Radiation Enteritis and Essential for the Proliferation and Differentiation of Lgr5+ Intestinal Epithelial Stem Cells by Regulating Mir-195/Akt/b-Catenin Pathway
Leilei YANG ; Chengfeng FANG ; Caifang SONG ; Yaya ZHANG ; Ruili ZHANG ; Shenkang ZHOU
Tissue Engineering and Regenerative Medicine 2023;20(5):739-751
BACKGROUND:
Radiation enteritis (RE) is a common complication of abdominal or pelvic radiotherapy, which when severe, could be life-threatening. Currently, there are no effective treatments. Studies have shown that mesenchymal stem cells (MSCs)-derived exosomes (MSC-exos) exhibit promising therapeutic effects in inflammatory diseases. However, the specific role of MSC-exos in RE and the regulatory mechanisms remain elusive.
METHODS:
In vivo assay was carried out by injecting MSC-exos into the total abdominal irradiation (TAI)-induced RE mouse model. For in vitro assay, Lgr5-positive intestinal epithelial stem cells (Lgr5+ IESC) were extracted from mice, followed by irradiation along with MSC-exos treatment. HE staining was performed to measure histopathological changes. mRNA expression of inflammatory factors TNF-a and IL-6 and stem cell markers LGR5, and OCT4 were quantified by RT-qPCR. EdU and TUNEL staining was performed to estimate cell proliferation and apoptosis. MiR-195 expression in TAI mice and radiation-induced Lgr5+ IESC was tested.
RESULTS:
We found that the injection of MSC-exos inhibited inflammatory reaction, increased stem cell marker expression, and maintained intestinal epithelial integrity in TAI mice. Furthermore, MSC-exos treatment increased the proliferation and simultaneously suppressed apoptosis in radiation-stimulated Lgr5+ IESC. MiR-195 expression increased by radiation exposure was decreased by MSC-exos therapy. MiR-195 overexpression facilitated the progress of RE by counteracting the effect of MSC-exos. Mechanistically, the Akt and Wnt/b-catenin pathways inhibited by MSC-exos were activated by miR-195 upregulation.
CONCLUSION
MSC-Exos are effective in treating RE and are essential for the proliferation and differentiation of Lgr5+ IESCs. Moreover, MSC-exos mediates its function by regulating miR-195 Akt b-catenin pathways.
6.Sp1-Induced SETDB1 Overexpression Transcriptionally Inhibits HPGD in a β-Catenin-Dependent Manner and Promotes the Proliferation and Metastasis of Gastric Cancer
Yaguan FAN ; Libo YANG ; Yi REN ; Yunhua WU ; Linhai LI ; Lihua LI
Journal of Gastric Cancer 2022;22(4):319-338
Purpose:
Gastric cancer (GC) has high morbidity and mortality, the cure rate of surgical treatment and drug chemotherapy is not ideal. Therefore, development of new treatment strategies is necessary. We aimed to identify the mechanism underlying Sp1 regulation of GC progression.
Methods:
and Methods: The levels of Sp1, β-catenin, SET domain bifurcated 1 (SETDB1), and 15-hydroxyprostaglandin dehydrogenase (HPGD) were detected by quantitative reverse transcription polymerase chain reaction and western blot analysis. The targets of SETDB1 were predicted by AnimalTFDB, and dual-luciferase reporter assay was used for confirming the combination of Sp1, β-catenin, and SETDB1. HGC27 or AGS cells (1×10 6 cells/mouse) were injected into mice via the caudal vein for GC model establishment. The level of Ki67 was detected using immunohistochemistry, and hematoxylin and eosin staining was performed for evaluating tumor metastasis in mice with GC.
Results:
HPGD was inhibited, while the protein levels of Sp1, β-catenin, and SETDB1 were up-regulated in GC tissues and cell lines. HPGD overexpression or SETDB1 silencing inhibited the proliferation, invasion, and migration of GC cells, and Sp1 regulated the proliferation, invasion, and migration of GC cells in a β-catenin-dependent manner. Furthermore, HPGD served as a target of SETDB1, and it was negatively regulated by SETDB1; additionally, Sp1 and β-catenin bound to the SETDB1 promoter and negatively regulated HPGD expression. We proved that Sp1 regulated GC progression via the SETDB1/HPGD axis.
Conclusions
Our findings revealed that Sp1 transcriptionally inhibited HPGD via SETDB1 in a β-catenin-dependent manner and promoted the proliferation and metastasis of GC cells.
7.Research progress in the imaging diagnosis of lymphedema
Linhai CHEN ; Zhuan YANG ; Junshui ZHENG ; Peng WEI
Chinese Journal of Plastic Surgery 2021;37(4):446-451
Lymphedema is a chronic disease in plastic surgery. Accurate diagnosis is the key to treatment. At present, the diagnosis of lymphedema is primarily based on medical history, symptoms and signs, with few objective diagnostic criteria. Therefore, the imaging diagnosis of lymphedema has become a research emphasis in recent years. This paper systematically reviews the imaging diagnosis of lymphedema, including X-ray lymphography, magnetic resonance imaging and contrast imaging, computed tomography and contrast imaging, fluorescence contrast imaging and Doppler ultrasound. The purpose of this study is to clarify their guiding significance in clinical practice by analyzing the characteristics of lymphedema in various imaging modalities.
8.Research progress in the imaging diagnosis of lymphedema
Linhai CHEN ; Zhuan YANG ; Junshui ZHENG ; Peng WEI
Chinese Journal of Plastic Surgery 2021;37(4):446-451
Lymphedema is a chronic disease in plastic surgery. Accurate diagnosis is the key to treatment. At present, the diagnosis of lymphedema is primarily based on medical history, symptoms and signs, with few objective diagnostic criteria. Therefore, the imaging diagnosis of lymphedema has become a research emphasis in recent years. This paper systematically reviews the imaging diagnosis of lymphedema, including X-ray lymphography, magnetic resonance imaging and contrast imaging, computed tomography and contrast imaging, fluorescence contrast imaging and Doppler ultrasound. The purpose of this study is to clarify their guiding significance in clinical practice by analyzing the characteristics of lymphedema in various imaging modalities.
9. Investigation of urinary iodine levels of 8 to 10 years old children in Linhai City of Zhejiang Province from 2016 to 2018
Qing YANG ; Mingyuan FANG ; Caijiao HUANG ; Xiansong HE ; Yang CAO
Chinese Journal of Endemiology 2019;38(12):975-977
Objective:
To investigate the iodine nutritional status of 8 to 10 years old school children in Linhai City, and to provide a theoretical basis for prevention and treatment of iodine deficiency.
Methods:
From 2016 to 2018, in the townships and sub-district offices under the jurisdiction of Linhai City, one town (street) was selected according to its geographical distribution in the east, west, south, north, and middle five directions, and one central primary school was selected in each town (street). In each central primary school, 40 children aged 8 to 10 years were selected, 5 to 10 ml of urine samples were collected, and urinary iodine level was determined by arsenic cerium catalytic spectrophotometry.
Results:
A total of 620 urine samples were detected in children, and the median urinary iodine was 172.5 μg/L. In 2016, 200 samples were tested, the median urinary iodine was 191.5 μg/L, 14.00% (28/200) for < 100 μg/L, and 20.00% (40/200) for ≥300 μg/L; in 2017, 210 samples were tested, the median urinary iodine was 174.5 μg/L, 18.10% (38/210) for < 100 μg/L, 11.90% (25/210) for ≥300 μg/L; in 2018, 210 samples were tested, the median urinary iodine was 149.0 μg/L, 24.29% (51/210) for < 100 μg/L, and 9.05% (19/210) for ≥300 μg/L. The differences in urinary iodine concentration between the three years were statistically significant (
10. Clinical characteristics of 84 children with invasive Haemophilus influenzae infection from 2014 to 2018
Gaoliang WANG ; Chunzhen HUA ; Linhai YANG ; Huiling DENG ; Hongmei XU ; Hui YU ; Shifu WANG ; Conghui ZHANG
Chinese Journal of Pediatrics 2019;57(8):592-596
Objective:
To investigate the clinical characteristics of invasive

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