1.Chromosomal microarray analysis of 17 patients with unbalanced reciprocal translocations.
Chonglan GAO ; Han KAN ; Xingyu LI ; Chengxiu XIE ; Yuchun PAN
Chinese Journal of Medical Genetics 2023;40(11):1360-1366
OBJECTIVE:
To retrospectively analyze the results of chromosomal microarray analysis (CMA) and parental origins of unbalanced translocations among 17 patients, so as to provide reference for their genetic counseling.
METHODS:
The results of CMA for 7 001 samples tested in Chengdu Women and Children's Central Hospital from January 2019 to January 2022 were retrospectively reviewed. Unbalanced reciprocal translocation was defined as two non-homologous chromosomes with lost and gained segments respectively or both with gained segments, and their parental origins were identified by parental chromosomal karyotyping and/or fluorescence in situ hybridization (FISH).
RESULTS:
In total 17 unbalanced translocations were identified. In three cases, two non-homologous chromosomes both had gained segments, which constituted a derivative chromosome, with the total number of chromosomes being 47. In the remaining 14 cases, there was a terminal deletion on one chromosome and a terminal duplication on the other, 10 of which were confirmed by karyotyping, with the total number of chromosomes being 46. In the derivative chromosome, the lost segment was replaced by a gained segment from another chromosome. Among 15 cases undergoing parental origin analysis, 12 had paternal or maternal chromosomal abnormalities, including 11 balanced translocations and 1 unbalanced translocation. The unbalanced gametes therefore may form through meiosis. In 3 cases, the parental chromosomes were normal, indicating a de novo origin.
CONCLUSION
Discovery of terminal duplication and deletion or gained segments on two non-homologous chromosomes by CMA is suggestive of parental balanced translocation, which can facilitate genetic counseling and assessment the recurrence risk for subsequent pregnancies.
Child
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Pregnancy
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Humans
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Female
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In Situ Hybridization, Fluorescence
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Retrospective Studies
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Translocation, Genetic
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Microarray Analysis
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Chromosomes
2.Mechanism of action of N7-methylguanosine in hepatocellular carcinoma
Chun GAO ; Jingjing JIANG ; Yuchun CHEN ; Xiaohui YU ; Jiucong ZHANG ;
Journal of Clinical Hepatology 2023;39(12):2946-2951
N7-methylguanosine (m7G) is one of the most popular RNA modifications at present and has attracted wide attention from researchers in China and globally. By influencing the metabolism of various RNA molecules (including messenger RNA, ribosomal RNA, microRNA, and transfer RNA), m7G modification actively participates in many biological processes such as cell proliferation, differentiation, and apoptosis. More and more evidence has shown that m7G plays a key role in the development of cancer, and abnormal m7G levels are closely associated with the development and progression of cancer by regulating the expression of multiple oncogenes and tumor suppressor genes. Hepatocellular carcinoma is the most common gastrointestinal tumor in China, and current treatment methods tend to have an unsatisfactory therapeutic effect. At present, the potential molecular mechanism of m7G modification in hepatocellular carcinoma remains unclear. This article reviews the potential mechanism of action of m7G modification in hepatocellular carcinoma and the m7G-related diagnosis and treatment strategies.
3.Comparison of total mandibular inferior border ostectomy versus T-shape genioplasty for chin narrowing combined with mandibular contouring
Heyou GAO ; Yingyou HE ; Yuchun XU ; Libin SONG ; Yiyuan WEI ; Jihua LI
Chinese Journal of Plastic Surgery 2023;39(7):695-703
Objective:To compare the outcomes of the total mandibular inferior border ostectomy and the T-shape genioplasty for chin narrowing combined with mandibular contouring and to assess the indications of the total mandibular inferior border ostectomy.Methods:In this retrospective study, the clinical data were collected from the patients who received mandibular contouring and chin narrowing at the Department of Orthognathic and Temporomandibular Joint Surgery, West China Hospital of Stomatology, Sichuan University from January 2015 to January 2019. According to the surgical procedure, patients were divided into Total inferior border ostectomy (Group I) and T-shaped genioplasty combined with mandibular contouring (Group II). Computed tomography scans, combined with medical records and photographs, were collected preoperatively and in the final follow-up postoperatively. Lower facial height, chin width, chin symmetry, facial proportions as well as patients’ satisfaction and complications were investigated to assess the clinical outcomes. Statistical analyses were performed using IBM SPSS Statistics, version 20.0 (IBM Corp., Armonk, NY, USA). The measurement data were expressed as Mean±SD, and the counting data were expressed as case (%). T-test was performed to compare the age difference, average satisfaction score and the relative measurements between the two groups. Pearson’s chi squared test was used to compare the sex composition ratio and complication ratio between the two groups. P<0.05 was considered statistically significant. Results:102 patients were involved in this study, including 42 patients in group I, 7 males and 35 females; 60 patients in group Ⅱ, 11 males and 49 females. All patients improved lower facial contours. No severe complications were observed during the follow-up period(6~24 months) Regarding appearance satisfaction, 30 cases were very satisfied, 11 cases were satisfied, and 1 case was neutral in group I. 43 cases were very satisfied, 15 cases were satisfied, and 2 cases were neutral in group II. There was no significant difference ( P >0.05) between group I and group II in age, sex, inferior lip numbness, hematoma, severe swelling, infection, soft tissue ptosisand appearance satisfaction.There was a statistically significant difference ( P < 0.01) in preoperative lower facial height [(63.05±4.15) mm vs. (52.87±4.07) mm], Preoperative lower and midfacial height ratio [(107.89±3.11) % vs. (91.29±7.94) %], and preoperative chin width and lower facial height ratio [(90.31±3.19) % vs. (104.32±5.28) %], chin width change [(12.11±2.59) mm vs. (8.39±1.89) mm], postoperative chin deviation [(0.17±0. 09)mm vs. (0.36±0.20) mm] and Postoperative chin width and lower facial height ratio [(76.80±1.85) % vs. (80.95±3.75) %]. No statistical difference ( P>0.05) was found in preoperative chin deviation, midfacial height, postoperative lower facial heigh, postoperative lower and midfacial height ratio. Conclusion:In conclusion, compared to T-shape genioplasty combined with mandibular contouring, total mandibular inferior border ostectomy had a large amount of chin narrowing and better postoperative symmetry and is well suited for a longer, wider, and more asymmetrical chin. The surgical options should be considered and chosen quantitatively to achieve aesthetically satisfactory results.
4.Comparison of total mandibular inferior border ostectomy versus T-shape genioplasty for chin narrowing combined with mandibular contouring
Heyou GAO ; Yingyou HE ; Yuchun XU ; Libin SONG ; Yiyuan WEI ; Jihua LI
Chinese Journal of Plastic Surgery 2023;39(7):695-703
Objective:To compare the outcomes of the total mandibular inferior border ostectomy and the T-shape genioplasty for chin narrowing combined with mandibular contouring and to assess the indications of the total mandibular inferior border ostectomy.Methods:In this retrospective study, the clinical data were collected from the patients who received mandibular contouring and chin narrowing at the Department of Orthognathic and Temporomandibular Joint Surgery, West China Hospital of Stomatology, Sichuan University from January 2015 to January 2019. According to the surgical procedure, patients were divided into Total inferior border ostectomy (Group I) and T-shaped genioplasty combined with mandibular contouring (Group II). Computed tomography scans, combined with medical records and photographs, were collected preoperatively and in the final follow-up postoperatively. Lower facial height, chin width, chin symmetry, facial proportions as well as patients’ satisfaction and complications were investigated to assess the clinical outcomes. Statistical analyses were performed using IBM SPSS Statistics, version 20.0 (IBM Corp., Armonk, NY, USA). The measurement data were expressed as Mean±SD, and the counting data were expressed as case (%). T-test was performed to compare the age difference, average satisfaction score and the relative measurements between the two groups. Pearson’s chi squared test was used to compare the sex composition ratio and complication ratio between the two groups. P<0.05 was considered statistically significant. Results:102 patients were involved in this study, including 42 patients in group I, 7 males and 35 females; 60 patients in group Ⅱ, 11 males and 49 females. All patients improved lower facial contours. No severe complications were observed during the follow-up period(6~24 months) Regarding appearance satisfaction, 30 cases were very satisfied, 11 cases were satisfied, and 1 case was neutral in group I. 43 cases were very satisfied, 15 cases were satisfied, and 2 cases were neutral in group II. There was no significant difference ( P >0.05) between group I and group II in age, sex, inferior lip numbness, hematoma, severe swelling, infection, soft tissue ptosisand appearance satisfaction.There was a statistically significant difference ( P < 0.01) in preoperative lower facial height [(63.05±4.15) mm vs. (52.87±4.07) mm], Preoperative lower and midfacial height ratio [(107.89±3.11) % vs. (91.29±7.94) %], and preoperative chin width and lower facial height ratio [(90.31±3.19) % vs. (104.32±5.28) %], chin width change [(12.11±2.59) mm vs. (8.39±1.89) mm], postoperative chin deviation [(0.17±0. 09)mm vs. (0.36±0.20) mm] and Postoperative chin width and lower facial height ratio [(76.80±1.85) % vs. (80.95±3.75) %]. No statistical difference ( P>0.05) was found in preoperative chin deviation, midfacial height, postoperative lower facial heigh, postoperative lower and midfacial height ratio. Conclusion:In conclusion, compared to T-shape genioplasty combined with mandibular contouring, total mandibular inferior border ostectomy had a large amount of chin narrowing and better postoperative symmetry and is well suited for a longer, wider, and more asymmetrical chin. The surgical options should be considered and chosen quantitatively to achieve aesthetically satisfactory results.
5.Experimental study and clinical significance of intravascular angiography in vivo
Kun CHENG ; Na SU ; Qiuyao LI ; Xiaofei GAO ; Kun FENG ; Zhicheng YANG ; Haiqing HOU ; Yuchun LI ; Jianmin LI ; Guanghui WANG
Chinese Journal of Orthopaedics 2022;42(8):482-491
Objective:To study the method of intravascular angiography in vivo, analyze the clinical significance, and supply the basis of diagnosis and treatment of related orthopaedic diseases.Methods:The development was realized by improving the developer to increase the local concentration. Based on the study of Lijianmin-Chengkun Complexes and using the theory of magnetic microspheres, Fe 3O 4 magnetic microspheres with amino (negatively charged) shell are used to adsorb the aggregated ionic developer meglumine diatrizoate (positively charged diatrizoate). That is, by improving the method of developer, the magnetic microspheres can carry the developer to make new nanoparticles magnetic imaging composite particles. Under the action of external magnetic field, the magnetic imaging composite particles brought by blood circulation continue to stay and gather in the blood vessels in the magnetic field area, and the developer carried by the magnetic microspheres in the blood vessels in the magnetic field area is concentrated to reach the imaging concentration, so as to realize in vivo intravascular vascular imaging. By adjusting the ratio of the two reagents, the charge can be neutralized and condensed into small groups to improve the development efficiency. Thus, the electron microscope experiment, CT in vivo experiment, rabbit imaging experiment, experimental rabbit tissue picture confirmation, CT in vivo human body (the author is a volunteer) imaging experiment were carried out step by step. Results:Electron microscope experiment: meglumine diatrizoate, scanning electron microscope, the particle diameter is about 20 nm. Scanning electron microscope showed that the diameter of the magnetic microspheres was about 100 nm and the distribution was uniform. After the two reagents are mixed in a certain proportion, the neutralizing charge condenses into small groups, but it still has magnetohydrodynamic properties and strong paramagnetism. In vivo rabbit imaging experiment: the ideal intraosseous vascular imaging of the proximal tibia was captured. The tissue pictures of experimental rabbits confirmed that the distribution of Fe 3O 4 was obviously visible in the blood vessels in the proximal tibia on the side with magnetic field, but not on the side without magnetic field. In vivo human imaging experiment: the ideal intraosseous vascular imaging of the proximal fibula was captured. Conclusion:Through the preparation of new reagent of magnetic imaging composite particles (magnetic microspheres + meglumine diatrizoate), the concentration of in vivo bone developer can be achieved under the action of external magnetic field, and the in vivo external diameter ≥ 0.5mm can be achieved under CT thin-layer scanning.
6.Study on the protective effect of rapamycin-treated dendritic cells on transfusion-related acute lung injury after infection
Li GAO ; Yiming YANG ; Rufeng XIE ; Yuchun GONG ; Juan SUN ; Xueyu JIANG ; Jie YANG
Chinese Journal of Blood Transfusion 2022;35(10):1005-1008
【Objective】 To investigate the viability of rapamycin-treated rapamycin-treated dendritic cells (DCs) in intervening transfusion-related acute lung injury (TRALI) after infection. 【Methods】 1)The TRALI mouse model was induced by lipopolysaccharide (LPS) combined with anti-H2Kd antibody. The mice anal temperature and the wet/dry ratio of lung, kidney, spleen and brain tissues were measured. 2) Mouse bone marrow-derived DC cells were induced in vitro and treated with rapamycin (10nM) for 24h. 3) Mice were injected with or without rapamycin or rapamycin-treated DC, then injected with LPS intraperitoneally one hour later, finally injected with anti-H2Kd antibody 24 hours later to induce the onset of TRALI. The death situation of the mice was observed and recorded. The condition of mice after the onset of TRALI was analyzed by mouse body temperature, lung wet-dry ratio, and pleural effusion weight and lung histopathological sections. 【Results】 By comparing the induction effects of anti-H2Kd antibody solutions with different concentrations and volumes, the mouse model induced by 0.1mg/kg LPS combined with 4.5 mg/kg anti-H2Kd antibody (infusion volume of 100μL) was selected as the TRALI mouse model for this study. After the onset of TRALI, the wet/dry ratio of the lungs could be significantly increased and the body temperature could be significantly reduced in the model mice. After the intervention of TRALI mice with DCs treated with rapamycin, the mortality rate was significantly reduced, and the lung tissue lesions of the mice were significantly improved, whose protection effect was better than that of the rapamycin-treated group. Compared with the TRALI incidence group, the weight of pleural effusion in the intervention group was significantly reduced (P<0.05), but there was no significant difference in lung wet/dry ratio and body temperature. 【Conclusion】 The combination of LPS and antibodies can effectively induce a stable and typical TRALI mouse model, suggesting that the presence of infectious inflammation and blood transfusion-related inflammatory substances are the decisive factor for the pathogenesis of TRALI. Meanwhile, DCs treated with rapamycin have a protective effect on post-infection transfusion-related acute lung injury, which is expected to be a potential cell therapy strategy to intervene in the exacerbation of TRALI.
7.Preliminary investigation on the dissected methods of intraosseous vasculature and the clinical significances of intraosse-ous vascularity
Kun CHENG ; Qiuyao LI ; Xiaofei GAO ; Kun FENG ; Zhicheng YANG ; Qiang YANG ; Xianhao SHAO ; Jianmin LI ; Siyu MENG ; Yuchun LI
Chinese Journal of Orthopaedics 2021;41(16):1090-1099
Objective:The vasculature and canal were located using radiography after the fresh osseous specimens were decalcified, after which the anatomic investigation of intraosseous vasculature was conducted based on the orientation of the canals.Methods:To investigate the basic dissected methods for intraosseous vasculature and the related clinical significance. Methods The materials were obtained from seven fresh knee joint specimens from patients with amputation due to car accidents, nine fresh knee joint specimens from patients with amputation due to oncological radical surgery, and 44 knee joint specimens from 24 cadavers. Among them, 22 were males (55%) and 18 were females (45%), 28 were left knees (46.7%) and 32 were right knees (53.3%). 10 were aged from 16-90 years old (from 8 donors) and 50 were aged from 15-85 years old (from 32 donors). The tributaries of middle genicular vein which penetrate into the proximal tibial epiphysis and metaphysis via our previously discovered and denominated "foramen of tibial intercondylar eminence (FTIE)" were dissected as an example. After obtaining the fresh knee joint specimen, angiography was performed to observe the continuous extraosseous and intraosseous blood vessels. The first group of specimens with the removal of cortical bone was reserved in formalin solution at 4 °C for 7 d, sequentially immersed in Ethylene Diamine Tetraacetic Acid (EDTA), the decalcification agent, for 30 d with replacement for each two days. Based on the CT scanning and three-dimensional reconstruction, the orientation of bony canal which enclosed the vasculature was exposed to guide the anatomic incision. The exquisite dissection was achieved with the help of ophthalmological microsurgical instruments. The anatomical dissection were intuitively observed, compared with the angiographic images, and verified by histological examinations. The second group of samples was decalcified with strong acid as another strategy, and the comparison between different groups was conducted. To estimate the advantages and disadvantages of the two decalcification and dissection methods, and the distribution and universality of specific intraosseous vasculatures and canals, the methods can be utilized to dissect the diameter of the intraosseous vessels. Based on the anatomical study of intraosseous vasculature, the mechanisms including etiology, recurrence and spread of bone tumors and epiphyseal injuries were analyzed to improve the therapeutic regimen.Results:The intraosseous tributaries of middle genicular vein which penetrate into the tibial intercondylar eminence from the articular cavity were dissected, these vessels extended to the tibial metaphysis from epiphysis through the epiphyseal line or senescent physes. The diameter of the vessel entering the FTIE was 1.2 mm, and the intraosseous vessels divided into several tinier tributaries with the diameter of 0.3 mm to cross the epiphyseal line or closed physeal plate and differentiated into capillaries in the distal regions, therefore was difficult to dissect directly. The histological examinations confirmed the authenticity of intraosseous vessels. Compared with the samples decalcified with strong acid, the blood vessels were obviously dissolved, and only a few residual epithelial cells were observed under the light microscope. Based on the anatomical study of intraosseous vessels, the treatment protocols for some related bone tumors and epiphyseal injuries were modified and satisfactory results were achieved.Conclusion:The methods can realize the ideal direct dissection for the intraosseous blood vessels with the outer diameter greater than or equal to 0.3 mm.
8.Research and application progress of mechanical measures for oral plaque control
Suli GUO ; Hu CHEN ; Jianjiang ZHAO ; Li GAO ; Yuchun SUN
Chinese Journal of Stomatology 2021;56(8):816-820
Effective removal of dental plaque is a key measure to prevent and control common oral diseases and to maintain the long-term effect of dental prostheses. The methods of oral plaque control are mainly depending on mechanical measures, including regular toothbrushing, interdental cleaning and oral irrigation. Toothbrushing is the most common and effective method for mechanical removal of dental plaque.How ever the effect of toothbrushing alone to remove dental plaque is limited. It is necessary to control the interdental plaque using tools such as dental floss and interdental brushes. Oral irrigation is an assistant method to improve oral hygiene. Toothbrushing combined with the use of oral irrigator can significantly improve the removal rate of dental plaque. The present article reviews the research progress of the mechanical plaque control methods and their application results.
9.The relationship between the recurrence rate of aggressive tumors and the foramina around the knee joint
Kun CHENG ; Qiang YANG ; Qiuyao LI ; Xiaofei GAO ; Kun FENG ; Tao LIU ; Huifeng JIANG ; Xianhao SHAO ; Yuxian WU ; Jianmin LI ; Yuchun LI
Chinese Journal of Orthopaedics 2020;40(6):325-334
Objective:To introduce the discovery and nomenclature of the intercondylar foramen of femur (IFF) and foramen of tibial intercondylar eminence (FTIE) and research the close relationship between the high recurrence rate of aggressive tumors around the knee joint and the foramina around the knee joint.Methods:①Radiographic observation and measurement: 3D reconstruction of CT scan of 200 patients in our hospital were used to obverse the common feature、position and measure of Inter-condylar foramen of femur and Foramen of tibial intercondylar eminence. ②Anatomical and histological observation: To proof the existence of IFF and FTIE through the anatomy of 15 cases of car accidents or tumor amputations and 60 cases of autopsy. Then the specific location, the surrounding structure, the proximal coverage, the contents, the apical construction, the wall and the bottom tissues of the IFF and FTIE were studied and analyzed. ③Histological and pathological observation of tumor anatomy: Through the study of the distal femur and tibia malignant tumor tissues(including primary bone tumors and metastatic tumors), we observed the relationship between the foraminal structures and the tumor, judged the situation of concealed transmission and two-way spread through the foramina, and analyzed the relationship between tumor recurrence and foraminal structures. ④The synovial membrane of foramina, especially in cases where the synovium was suspected to be involved by the lesions judged by the radiography was analyzed to observe whether the synovium was infiltrated by the tumor.Results:IFF and FTIE were the inherent physical structure of the human. Their physiological function was the vascular foramina that lead the branches of arteria media genus into the Intercondylar fossa of femur and tibial intercondylar eminence. Their opening was separated with the joint cavity by the synovial tissues, so IFF and FTIE were isolated with joint cavity by the synovial tissues、meniscus and cruciate ligaments. After invading the IFF and FTIE, the aggressive tumors did not break into the joint cavity immediately, but conceal in the foramina and invade the synovium with specific biological behavior with the sequence: reactive edema, hyperplasia, degeneration, calcification, hyaline degeneration (infiltration in some cases), synovial rupture, and then tumor invasion of the articular cavity. Usually, tumors or recurrence has been observed before synovial rupture. We also observed the tendency of tumors to spread along the arteria media genus to the popliteal vessels, peripheral soft tissues and lymphatic vessels with typical radiographic performance like popliteal lymphadenectasis. Color nodules and tumors in other parts could also invade or metastasize into bone through these foramina.Conclusions:IFF and FTIE are foramina nutricium of arteria media genus. They are the inherent physical structure of the human. The foramina play an important role in the spread, concealment and recurrence of peripheralkneeaggressive tumor.
10.Association between childhood neglect and the autonomic nerves disorder in students of sixth graders
Chinese Journal of School Health 2020;41(10):1521-1524
Objective:
To explore prevalence of childhood neglect and autonomic nervous function, and its association in sixth graders students in Harbin, and to provide clues to improve physical and mental health of children and adolescents.
Methods:
Cluster sampling method was used to select 1 259 students from grade 6 in 5 schools in two districts of Harbin, and Childhood Trauma Questionnaire-Short Form (CTQ-SF) and TOHO University Medical Index (TMI) were filled in.
Results:
The total rate of childhood neglect was 45.7%, of which the rate of emotional neglect and physical neglect were 18.8%, 40.8%. The rate of autonomic nerves disorder was 47.2%. The rate of autonomic nerves disorder in students suffered from neglect, emotional neglect, physical neglect are higher than those without any of neglect(χ2=50.52, 32.02, 43.61, P<0.01), and with the increase of the degree of neglect, the rate of autonomic nervous disorder were gradually increasing(χ2=47.99, 47.07, 49.24, P<0.01). After controlled for gender, neglect, emotional neglect, physical neglect were positively associated with autonomic nerves disorder(OR=1.53-2.34, P<0.05), and the odd ratio for autonomic nerves disorder among those with mild-to-moderate,moderate-to-severe and extremely servere neglect was 1.37, 1.83, 5.10 compared to those with none or mild neglect.
Conclusion
Childhood neglect is closely related to adolescent the autonomic nerves disorder in sixth graders students in Harbin. Moreover, the more serious the childhood neglect is, the higher the detection rate of autonomic nerves disorder is. In order to improve the physical and mental health of children and adolescents, it is necessary to pay attention to childhood neglect and early assessment of their autonomic function.


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