Objective To explore the incidence and prognosis of citrin deficiency in Maoming,and to understand mutation types and frequency of SLC25A13 gene.Methods A total of 88 322 newborns born in Maoming from April 2022 to January 2025 were selected as research subjects.These specimens were screened using tandem mass spectrometry.Newborns with elevated citrulline levels or suspected clinical symptoms of citrin deficiency were recalled immediately for further genetic confirmation,and treated confirmed cases were followed up.Results Among 88 322 newborns,53 cases were positive for citrulline by tandem mass spectrometry,43 cases were recalled with positive initial screening,23 cases were still positive for citrulline after re-examination.Finally,1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)was clinically diagnosed,and 10 cases were diagnosed with SLC25A13 gene,of which 1 case was false negative.Therefore,the total positive predictive value was 18.87％(10/53),and the prevalence rate of NICCD in Maoming was 1/8029(11/88 322).A total of 5 mutation sites were detected in 10 neonates with NICCD gene diagnosis,and the top 3 mutation sites in the order of proportion were:c.852-855delTATG accounted for 65.0％(13/20),c.615+5G>A accounted for 15.0％(3/20),IVS16ins3kb accounted for 10.0％(2/20).Among the 11 cases,1 case refused treatment and died of liver failure,while the remaining 10 cases were developing well after standardized treatment.Conclusion The incidence of neonatal citrin deficiency in Maoming is significantly higher than in other areas.Tandem mass spectrometry enables rapid early detection of citrin deficiency,though false-negative results may occur in individual cases.Combining genetic sequencing can improve diagnostic accuracy,and achieve precise management of inherited metabolic diseases.

Objective To explore the incidence and prognosis of citrin deficiency in Maoming,and to understand mutation types and frequency of SLC25A13 gene.Methods A total of 88 322 newborns born in Maoming from April 2022 to January 2025 were selected as research subjects.These specimens were screened using tandem mass spectrometry.Newborns with elevated citrulline levels or suspected clinical symptoms of citrin deficiency were recalled immediately for further genetic confirmation,and treated confirmed cases were followed up.Results Among 88 322 newborns,53 cases were positive for citrulline by tandem mass spectrometry,43 cases were recalled with positive initial screening,23 cases were still positive for citrulline after re-examination.Finally,1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)was clinically diagnosed,and 10 cases were diagnosed with SLC25A13 gene,of which 1 case was false negative.Therefore,the total positive predictive value was 18.87％(10/53),and the prevalence rate of NICCD in Maoming was 1/8029(11/88 322).A total of 5 mutation sites were detected in 10 neonates with NICCD gene diagnosis,and the top 3 mutation sites in the order of proportion were:c.852-855delTATG accounted for 65.0％(13/20),c.615+5G>A accounted for 15.0％(3/20),IVS16ins3kb accounted for 10.0％(2/20).Among the 11 cases,1 case refused treatment and died of liver failure,while the remaining 10 cases were developing well after standardized treatment.Conclusion The incidence of neonatal citrin deficiency in Maoming is significantly higher than in other areas.Tandem mass spectrometry enables rapid early detection of citrin deficiency,though false-negative results may occur in individual cases.Combining genetic sequencing can improve diagnostic accuracy,and achieve precise management of inherited metabolic diseases.

Objective: To evaluate the effect of tumor shape and location on pulmonary dose-volume parameters by intensity-modulated radiation therapy (IMRT) in patients with non-small cell lung cancer (NSCLC), aiming to provide a reference basis for establishing limits of the pulmonary dose-volume parameters during IMRT. Methods: Clinical data of 208 NSCLC patients undergoing radical IMRT from June 2009 to June 2016 were retrospectively analyzed. According to the tumor shape and location, 208 cases were divided into the vertical bar group (n=127) and the horizontal bar group (n=81), the superior lung group (n=103) and the inferior lung group (n=105). Regression model curve was used to evaluate the effect of tumor shape and location upon the common pulmonary dose-volume parameters(V₅, V₂₀, MLD, AVS₅ and AVS₂₀). Results: In all groups, the fitting curves of V₅, V₂₀ and MLD were manifested in the quadratic equation pattern, and AVS₅ and AVS₂₀ in the logarithmic equation manner. In the vertical bar group, the V₅(P=0.015), V₂₀(P=0.047) and MLD (P=0.012) were significantly higher, whereas the AVS₅(P=0.044) was significantly lower compared with those in the horizontal bar group. No statistical significance was observed in AVS₂₀ between two groups (P=0.490). The tumor location exerted significant effect upon V₅ alone (P=0.009). Conclusions When the tumors presents in the vertical bar shape, the limits of the common lung dose-volume parameters are likely to exceed those of tumors in the vertical bar shape. Lung tumors located in the inferior lobe exerts a more significant effect upon the low-dose region volume compared with the tumors in the superior lobe.

Objective: To calculate out the Hausdorff distance based on the scripting in RayStation treatment planning system, which was then applied in measuring the deformation error of brain stem during image automatic registration between CT and MR. Methods: Scripting was edited in RayStation system (version 4.7) by using IronPython. The set of point coordinates on the contour of any two region of interest (ROI) had been found firstly, then the Hausdorff distance between the two point sets was calculated out. A graphical user interface (GUI) was designed by using XAML to acquire the visualized output of Hausdorff distance. GUI appeared when the script was run, where two ROIs was selected, then the corresponding Hausdorff distance and the running time were displayed by pressing the "Calculate" button. Results: The mean Hausdorff distance of brain stem in 20 patients with head and neck neoplasms was 1.20 cm while the mean elapsed time was 11.01s. Conclusions Hausdorff distance of any two ROIs can be calculated out by using the developed method. GUI is designed to realize the visual interaction with RayStation system. Therefore, the RayStation system satisfies the demands of Hausdorff distance calculation in both clinical and research work.

Objective:To explore the effectof tumor volume on pulmonary dose-volume parameters by intensity-modulated radiation therapy (IMRT) in non-small cell lung cancer (NSCLC),and to provide a basis for pulmonary dose parameters in IMRT treatment.Methods:A total of 204 patients with NSCLC received IMRT were retrospectively analyzed from June,2009 to October,2013.The prescribed dose of planning target volume (PTV) for primary tumor was 60-66Gy (2.00-2.25 Gy,27-33 times in all).The fractional volume percent of the lung received a dose ＞5 or 20 Gy (V5,V20),and absolute volume of lung received a dose ＜5 Gy (AVS5).The mean lung dose (MLD) in normal tissues were analyzed.Regression model curve was used to analyze them along with the change of primary tumor volume.Results:With the increase in lung tumor volume,the V5,V20 and MLD presented quadratic equation curve,and AVS5 presented logarithmic equation.When the tumor volume,less than a certain value (294.6,283.2,304.9 cm3,respectively),the V5,V20 and MLD increased with tumor size and presented an increased quadratic curve;when the tumor volume was higher than a certain value (294.6,283.2,304.9 cm3 respectively),the V5,V20 and MLD was declined.The AVS5 was declined in a logarithmic curve along with the increase of tumor volume.Conclusion:With the increase in lung tumor volume,the change in rule ofV5,V20,MLD and AVS5 is not completely equivalent.When the tumor volume exceeds a certain boundary value (about 300 cubic centimeter),the corresponding tumor diameter is about 7-8 cm.In addition to the focus on pulmonary V5,V20 and MLD,we should also pay more attention to AVS5 restrictions in establishment ofIMRT in NSCLC.

Objective:To explore the regular variation pattern of tumor volumes of the patients with non-small cell lung cancer (NSCLC) before and after targeting treatment of epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI),and to clarify its clinical value.Methods:The materials of 39 NSCLC patients with EGFR-TKI targeting treatment were retrospectively analyzed. The tumor volumes were detected by volume measurement software of TPS and Image J image processing software,then the absolute and relative tumor volume changes of the NSCLC patients before and after targeting treatment were analyzed by paired sample comparison symbol Wilcoxon rank test. Results:The absolute tumor volumes (mm3 )of the patients with NSCLC before and 1 month after targeting treatment were 14 822.11 (7 524.73,54 999.41)and 7 954.42 (3 499.73,29 396.83),respectively, and there was statistically significant difference (Z=-3.257,P=0.001);the absolute tumor volumes of the patients with NSCLC 1 and 2 months after targeting treatment were 8 358.47 (4 394.36,24 430.05)and 7 028.76 (3 634.98,21 056.71),respectively,and there also was statisticaliy significant difference (Z=-2.213,P=0.027).When the original tumor volume before targeting treatment was regarded as 1,the relative tumor volume of 1 month after targeting theatment was 0.612 6 (0.313 8,0.853 7),and there was significant difference (Z=-3.855,P<0.001);the relative tumor volumes of 1 month and 2 months after targeting treatment were 0.608 4 (0.364 3,1.044 3)and 0.423 0 (0.248 8,0.877 7),respectively,and there also was statistically significant differernce (Z=-2.173,P=0.030);but the differences between other consecutive months (from 3 months to 6 months)had no statistically significant differences (P>0.05);the changes of tumor relative volume presented platform stage after 3 months.The tumor relative volumes of 7-9 months after EGFR-TKI treatment reached the bottom.Conclusion:The average primary tumor volume of the NSCLC patients is obviously reduced 1 and 2 months after TKI targeting treatment. It may be optimal to carry out radiotherapy in 3-9 months after EGFR-TKI targeting treatment.

OBJECTIVEThe aim of this study was to clarify whether the fusion of bone marrow mesenchymal stem cells (MSCs) with tumor cells can promote tumor angiogensis.

METHODSHuman glioma stem/progenitor cells (GSPCs) (SU3 cells) were transfected with red fluorescent protein (RFP) gene. Bone marrow mesenchymal stem cells (MSCs) were harvested from nude mice with whole-body green fluorescent protein (GFP) gene expression. Then the two kinds of cells were co-cultured in vitro. At the same time SU3-RFP was transplanted into the brain of GFP-expressing nude mice to establish xenograft tumors. The co-cultured cells, GFP/RFP double positive (yellow) cells and blood vessels obtained from the xenograft tumors were observed under fluorescent microscope and laser scanning confocal microscope.

RESULTSAfter five passages in vitro, MSCs maintained the proliferative activity and highly expressed CD105. CD105 was also expressed in the femurs of GFP-expressing nude mice, tumor cells, blood vessels of SU3 xenograft tumors, and clinical malignant gliomas. When MSCs were co-cultured with SU3-RFP, the ratio of yellow cells co-expressing RFP and GFP was significantly increased after extended time and continuous passages. According to the flow cytometry, yellow cells co-expressing RFP and GFP were 83.7% of the cultured cells. In tissue slices of the xenograft tumors, bundles of yellow vessel-like structure and cross-sectioned yellow vascular wall structures including vascular wall stroma cells were observed with RFP and GFP expression, and were identified as de novo formed vessels derived from fusion of MSCs with SU3-RFP cells.

CONCLUSIONCell fusion occurs between tumor cells and host MSCs and it promotes tumor angiogenesis.

Animals ; Bone Marrow Cells ; physiology ; Cell Communication ; Cell Fusion ; Cells, Cultured ; Glioma ; Green Fluorescent Proteins ; Humans ; Luminescent Proteins ; Mesenchymal Stromal Cells ; Mice ; Mice, Nude ; Microscopy, Fluorescence ; Neoplasms ; Neovascularization, Pathologic ; Stem Cells ; Transfection ; Transplantation, Heterologous

Objective To establish a new congenic inbred mouse strain carrying and expressing EGFP and Foxn1nugene for cancer research including human glioma as well .Methods According to criterion of GB14923-2010, the male Foxn1nu nude mice backcross the female C57BL/6-Tg (CAG-EGFP) transgenic mice for 10 times, Then identify the phenotype using the methods and equipment as below: fluorescent flashlight and matching glasses; multifunction vivo imager; fluorescence microscopy.Results The congenic inbred mouse strain named Foxn1nu.B6-CAG-EGFP/SU ( Soochow University ) .All the 14 biochemical loci are homozygous and same with Balb/c mouse in addition to the Pep3 loci (“b” type instead of “a” type).Peripheral blood lymphocyte count shows the lymphocytes occupy 15%of nucleated cells;T lymphocytes occupy 0.3%, meet the requirement of inbred strain of EGFP nude mice .Conclusions Established a new congenic inbred strain -Foxn1nu.B6-CAG-EGFP/SU which both express EGFP stably, and own immunodeficiency with lack of T lymphocytes .The phenotype “b” of biochemical loci “Pep3” is the unique characteristic that distinguish SU to Foxn1nu.

Objective The aim of this study was to clarify whether the fusion of bone marrow mesenchymal stem cells ( MSCs) with tumor cells can promote tumor angiogensis.Methods Human glioma stem/progenitor cells (GSPCs) (SU3 cells) were transfected with red fluorescent protein (RFP) gene.Bone marrow mesenchymal stem cells ( MSCs) were harvested from nude mice with whole-body green fluorescent protein (GFP) gene expression.Then the two kinds of cells were co-cultured in vitro.At the same time SU3-RFP was transplanted into the brain of GFP-expressing nude mice to establish xenograft tumors.The co-cultured cells, GFP/RFP double positive ( yellow ) cells and blood vessels obtained from the xenograft tumors were observed under fluorescent microscope and laser scanning confocal microscope.Results After five passages in vitro, MSCs maintained the proliferative activity and highly expressed CD105.CD105 was also expressed in the femurs of GFP-expressing nude mice, tumor cells, blood vessels of SU3 xenograft tumors, and clinical malignant gliomas.When MSCs were co -cultured with SU3-RFP, the ratio of yellow cells co-expressing RFP and GFP was significantly increased after extended time and continuous passages. According to the flow cytometry, yellow cells co-expressing RFP and GFP were 83.7%of the cultured cells. In tissue slices of the xenograft tumors, bundles of yellow vessel-like structure and cross-sectioned yellow vascular wall structures including vascular wall stroma cells were observed with RFP and GFP expression, and were identified as de novo formed vessels derived from fusion of MSCs with SU3-RFP cells.Conclu sion Cell fusion occurs between tumor cells and host MSCs and it promotes tumor angiogenesis.

Objective The aim of this study was to clarify whether the fusion of bone marrow mesenchymal stem cells ( MSCs) with tumor cells can promote tumor angiogensis.Methods Human glioma stem/progenitor cells (GSPCs) (SU3 cells) were transfected with red fluorescent protein (RFP) gene.Bone marrow mesenchymal stem cells ( MSCs) were harvested from nude mice with whole-body green fluorescent protein (GFP) gene expression.Then the two kinds of cells were co-cultured in vitro.At the same time SU3-RFP was transplanted into the brain of GFP-expressing nude mice to establish xenograft tumors.The co-cultured cells, GFP/RFP double positive ( yellow ) cells and blood vessels obtained from the xenograft tumors were observed under fluorescent microscope and laser scanning confocal microscope.Results After five passages in vitro, MSCs maintained the proliferative activity and highly expressed CD105.CD105 was also expressed in the femurs of GFP-expressing nude mice, tumor cells, blood vessels of SU3 xenograft tumors, and clinical malignant gliomas.When MSCs were co -cultured with SU3-RFP, the ratio of yellow cells co-expressing RFP and GFP was significantly increased after extended time and continuous passages. According to the flow cytometry, yellow cells co-expressing RFP and GFP were 83.7%of the cultured cells. In tissue slices of the xenograft tumors, bundles of yellow vessel-like structure and cross-sectioned yellow vascular wall structures including vascular wall stroma cells were observed with RFP and GFP expression, and were identified as de novo formed vessels derived from fusion of MSCs with SU3-RFP cells.Conclu sion Cell fusion occurs between tumor cells and host MSCs and it promotes tumor angiogenesis.