1.Role of spinal PI3K/Akt signaling pathway in maintenance of bone cancer pain in rats: the relationship with microglial activation
Di JIN ; Jianping YANG ; Jihua HU ; Li'na WANG ; Yongheng HOU ;
Chinese Journal of Anesthesiology 2014;34(9):1092-1094
Objective To evaluate the role of spinal phosphatidyl-inositol 3-kinase/Akt (PI3k/Akt) signaling pathway in the maintenance of bone cancer pain (BCP) in rats and its relationship with microglial activation.Methods Forty healthy female Sprague-Dawley rats,weighing 180-200 g,were randomly divided into 5 groups (n =8 each):sham operation group (group S) ; PI3K inhibitor LY294002 group (group L) ; group BCP; BCP + dimethyl sulfoxide (DMSO) group (group BCP + D) ; BCP + LY294002 group (group BCP + L).BCP was induced by inoculating Walker 256 mammary gland carcinoma cells into the medullary cavity of the left tibia.At 7-9 days after inoculation,LY294002 2.5 μg/10 μl was injected intrathecally in L and BCP + L groups,normal saline 10 μl was injected intrathecally in S and BCP groups,and 5% DMSO 10 μl was injected intrathecally in BCP+ D group once a day.Mechanical paw withdrawal threshold (MWT) was measured at 1 day before inoculation and 1,3,5,7,8 and 9 days after inoculation.The rats were sacrificed after MWT was measured on day 9 after inoculation and the L4-6 segments of the spinal cord were removed to determinate the activation of spinal microglia using immunofluorescence.Results Compared with group S,MWT was significantly decreased,and the activation of spinal microglia was increased in BCP,BCP + D and BCP+ L groups.Compared with BCP and BCP + D groups,MWT was significantly increased,and the activation of spinal microglia was decreased in BCP + D group.Conclusion Spinal PI3K/Akt signaling pathway is involved in the maintenance of BCP possibly through activating microglia in spinal dorsal horns of rats.
2.The value of gemstone spectral imaging in assessment pathological features of esophageal carcinoma
Jianxin ZHANG ; Mailin CHEN ; Xiaosong DU ; Li'na HOU ; Lei XIN ; Xiaotang YANG ; Jun WANG
Cancer Research and Clinic 2014;26(6):377-380
Objective To evaluate the clinical value of gemstone spectral imaging (GSI) in preliminary assessment of esophageal carcinoma pathology features.Methods 58 patients were analyzed which were diagnosed with histological pathology as esophageal carcinoma underwent GSI enhanced scans before surgery.The iodine concentrations (IC) in the lesions were measured on the iodine-water based material-decomposition images.The results of IC value were evaluated retrospectively with different pathological grading,locations and pathological morphology according to the final pathologic findings.Results 52 cases patients were squamous cell carcinoma and 6 patients were adenocarcinoma.The IC values were (14.75±4.24) mg/ml and (12.86±5.09) mg/ml.The IC value between the two different pathological types had not statistically difference (P =0.35).The IC of different pathological grading:Well differentiation was (20.08± 4.66)mg/ml,n =19.Medium was (14.13±3.39) mg/ml,n =25.Poor was(11.73±3.21) mg/ml,n =14.The IC values between pathological grading had significant difference(P =0.00).There were four different pathological morphology including m edullar (n =16),m ushroom type (n =21),ulcer (n =13) and narrow type (n =8).Their IC values respectively were (16.34±2.56) mg/ml,(18.70±3.03) mg/ml,(14.31±4.60) mg/ml and (11.18±2.09) mg/ml.The IC value between mushroom and narrow type had statistical difference (P =0.04).The Other types had no statistically difference (P =0.19).Conclusions The results of this study demonstrate that GSI has a certain ability of pathologic stage of esophageal cancer.The GSI has a certain clinical value in guiding treatment and judging prognosis of esophageal carcinoma.
3.Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene.
Panla SHI ; Xuechao ZHAO ; Li'na LIU ; Yanjie XIA ; Conghui WANG ; Duo CHEN ; Yaqin HOU ; Zhouxian BAI ; Xiangdong KONG
Chinese Journal of Medical Genetics 2023;40(3):354-359
OBJECTIVE:
To carry out genetic testing and prenatal diagnosis for a woman featuring moderate intellectual disability (ID).
METHODS:
The patient had presented at the First Affiliated Hospital of Zhengzhou University on April 28, 2021. With informed consent, peripheral blood and amniotic fluid samples were collected for the extraction of genomic DNA. Pathogenic copy number variations (CNVs) were detected with CNV-seq, and single gene variants were detected by whole exome sequencing (WES) and Sanger sequencing. Candidate variant was verified by Sanger sequencing, and CNV-seq and multiplex ligation-dependent probe amplification (MLPA) were used to detect fetal CNVs.
RESULTS:
The 23-year-old woman had moderate ID, sideway walking, and unstable holding. Ultrasonography at 18+3 weeks' gestation had revealed no fetal abnormality. No pathogenic CNV was detected in the woman by CNV-Seq, while WES revealed that she has harbored a heterozygous c.1675C>T (p.Arg559*) variant of the DLG4 gene, which was verified by Sanger sequencing. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PVS1+PM2_supporting). Sanger sequencing has confirmed that the fetus has inherited this variant, and CNV-Seq also revealed that that fetus has harbored a 0.1 Mb heterozygous deletion at Xp21.1, which has encompassed the DMD gene, and the result was verified by MLPA.
CONCLUSION
The heterozygous c.1675C>T variant of the DLG4 gene probably underlay the mental retardation in this woman, and her fetus was found to harbor the same variant in addition with deletion of the DMD gene, which may predispose to ID type 62.
Female
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Humans
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Pregnancy
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Young Adult
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Disks Large Homolog 4 Protein
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DNA Copy Number Variations
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Fetus
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Genetic Testing
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Intellectual Disability/genetics*
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Pregnant Women