1. Advances in studies on the relationship between Aurora kinases and gastrointestinal tumors
Chinese Journal of Clinical Oncology 2020;47(3):156-160
Aurora kinases constitute a highly evolutionarily conserved family of serine/threonine kinases, which includes Aurora A, Aurora B, and Aurora C. These kinases are dynamically distributed throughout the cell cycle, and ensure the normal completion of the cell cycle by regulating centrosome maturation and separation, bipolar spindle assembly and stabilization, accurate separation of chromosomes, and efficient division of cytoplasm during mitosis. In recent years, it has been shown that Aurora kinases are overexpressed in a variety of solid tumors in the human body. The overexpression of Aurora kinases leads to abnormal mitosis, causes genetic instability, and is closely related to the occurrence, proliferation, and poor prognosis of tumors, which indicates that these kinases could be novel anti- tumor targets. Currently, Aurora kinase inhibitors are considered as novel candidates for molecular targeted therapies. Some of these inhibitors with strong anti-tumor activity have even entered clinical trials. In this article, we have reviewed the relationship between the biological characteristics of Aurora kinases, Aurora kinase inhibitors, and the occurrence and development of gastrointestinal tumors.
2.The clinical characteristics and molecular genetics of infantile neuroaxonal dystrophy: The current research progress
Shimeng CHEN ; Juan XIONG ; Xiaolu DENG ; Nan PANG ; Xiaole WANG ; Wen ZHANG ; Fei YIN
Journal of Chinese Physician 2017;19(8):1121-1124
Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.
3.Socio-cultural factors of global developmental delay children
Haolin DUAN ; Jing PENG ; Chen CHEN ; Juan XIONG ; Fangyun LIU ; Shimeng CHEN ; Fei YIN ; Guoli WANG
Journal of Chinese Physician 2018;20(9):1303-1306
Objective To summarize the clinical features of global developmental delay (GDD) children,and to explore the relationship between severity of GDD and social-culture factors.Methods Sign the informed consent before enrollment.Collect clinical data in detail about 100 GDD children (GDD group) and 95 children with normal development (healthy control group),and analyze their regular clinical data,physical examination,intellectual disability test,electroencephalography (EEG) and cranial imaging test.Spearman rank correlation was used to analyze the differences of social and cultural factors between GDD group and healthy control group,such as maternal reproductive age,parental education level and family economic status.At the same time,we compared the lag degree of total developmental quotient and the degree of developmental retardation of five energy areas with the above factors.Results Significant associations were found between GDD and maternal/paternal education,economic level of family,but no sgnificant association was found between maternal age and GDD.And analysis in the relationship between severity of delay in all domains of the child's developmental status about language and social-culture factors,we only obtained the severity of delay in abilities about language is related with maternal education.Spearman rank correlation statistics explains that if there are the lower level of education with mothers,the delay of language domain will more severe (rs =-0.505,P < 0.05).Conclusions Significant associations were found between GDD and maternal/paternal education,economic level of family.The higher maternal education was an important protective factor against risk of GDD.Improving the cognition of parents in child health care,early be diagnosed,early be intervened,is the most important for children with language development.
4. A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature
Haolin DUAN ; Jing PENG ; Nan PANG ; Shimeng CHEN ; Juan XIONG ; Shiqi GUANG ; Fei YIN
Chinese Journal of Pediatrics 2019;57(5):368-372
Objective:
To summarize the clinical features and gene variation characteristics of a child with Okur-Chung syndrome caused by CSNK2A1 gene variation.
Methods:
The medical records of one patient who was diagnosed with Okur-Chung syndrome in Department of Pediatrics, Xiangya Hospital of Central South University in July 2018 were analyzed. Using "CSNK2A1" gene as the keyword, relevant information about CSNK2A1 gene was searched at CNKI, Wangfang Data, OMIM, PubMed, ClinVar, Decipher (until August 2018). The characteristics of CSNK2A1 gene variation and the clinical phenotype of children with Okur-Chung syndrome were summarized.
Results:
The boy, 1 year and 8 months old, was sent to hospital at the age of 1 year and 6 months because of delayed growth for more than 1 year. He was susceptible to cough while eating or drinking. He was also suffering from constipation and poor sleep. Physical examination showed that his body weight was 10.2 kg, microcephalus, broad nasal bridge, micrognathia and hypotonia were observed. Whole exome-sequencing test identified a
5.Clinical efficacy of Da Vinci robot-assisted radical gastrectomy for gastric cancer
Zipeng XU ; Wenjie WANG ; Shimeng XIONG ; Wenwen YU ; Tingbao CAO ; Kun LI ; Jianping YU ; Hongtao LI ; Hongbin LIU
Chinese Journal of Digestive Surgery 2019;18(5):453-458
Objective To explore the clinical efficacy of Da Vinci robot-assisted radical gastrectomy for gastric cancer.Methods The retrospective cohort study was conducted.The clinicopathological data of 472 patients who underwent radical gastrectomy for gastric cancer in the 940 Hospital of the People's Liberation Joint Service from June 2016 to June 2018 were collected.There were 372 males and 100 females,aged (57± 11) years,with a range from 17 to 85 years.Patients underwent gastrointestinal angiography,magnetic resonance imaging,computed tomography or gastrointestinal endoscopy before surgery,and were diagnosed with gastric cancer by biopsy.Of the 472 patients,241 underwent Da Vinci robot-assisted radical gastrectomy for gastric cancer were allocated into robotic group and 231 underwent laparoscopy-assisted radical gastrectomy were allocated into laparoscopic group.Observation indicators:(1) surgical situations;(2) postoperative situations;(3) follow-up and survival.Follow-up using outpatient examination and telephone interview was performed to detect the tumor recurrence and metastasis and survival of patients up to January 30,2019.Measurement data with normal distribution were expressed as Mean±SD,and comparison between groups was done using the t test.Measurement data with skewed distribution were described as M (range).Count data were described as absolute number or percentage,and the chi-square test was used for comparison between groups.Comparison of ordinal data was done using the rank-sum test.The accumulative survival rate,tumor-bearing survival rate and mortality of tumor recurrence were calculated by the Kaplan-Meier method,and Log-rank test was used for survival analysis.Results (1) Surgical situations:472 patients underwent successful operation,with R0 margin.Cases with total gastrectomy + D2 lymph node dissection + Roux-en-Y anastomosis,cases with distal subtotal gastrectomy + D2 lymph node dissection + Billroth Ⅱ anastomosis,operation time,upper margin distance,lower margin distance,tumor diameter,cases with shallow muscular invasion,deep muscular invasion,subserosal invasion and serosal invasion (depth of tumor invasion)were 107,134,(234±44)minutes,(4±3)cm,(6±4)cm,(5 ±3)cm,8,17,32,184 in the robotic group,and 94,137,(239±46)minutes,(4±3)cm,(6±4) cm,(5±3)cm,7,19,30,175 in the laparoscopic group,respectively;there was no significant difference in above indicators between the two groups (x2 =0.200,2.459,t =-1.212,-1.074,-0.420,-1.236,Z =0.171,P> 0.05).The volume of i ntraoperative blood loss,number of lymph nodes dissected in total gastrectomy,number of lymph nodes dissected in distal subtotal gastrectomy were (126±113)mL,45±14,and 36±18 in the robotic group,and (149±132) mL,39±14,30± 16 in the laparoscopic group,showing statistically significant differences between the two groups (t=-2.093,3.275,2.195,P<0.05).(2) Postoperative situations:the time to recovery of gastrointestinal function,time of postoperative abdominal drainage tube removal,and hospitalization cost in the robotic group were (2.6 ± 0.6)days,(5.7± 1.2) days,and (100 157±44 888) yuan,respectively.The above indices of the laparoscopic group were (3.1±0.7)days,(7.0±3.0)days,and (82 220± 18 941)yuan,respectively.There were statistically significant differences between the two groups (t =-5.371,-3.212,5.603,P < 0.05).The duration of postoperative hospital stay was (12±6)days in the robotic group and (12±6)days in the laparoscopic group,with no significant difference between the two groups (t =0.755,P> 0.05).Eighteen out of 472 patients had complications.There were 3 cases of anastomotic leakage in the robotic group,2 cases of gastroplegia,1 case of duodenal stump,and 1 case of pulmonary infection,with a incidence of postoperative complication as 2.90% (7/241).There were 4 cases of anastomotic leakage in the laparoscopic group,1 case of gastroplegia,1 case of duodenal stump,and 3 cases of pulmonary infection,with a incidence of postoperative complication as 3.90% (9/231).There was no statistically significant difference in the incidence of postoperative complication between the two groups (x2 =1.503,P > 0.05).Patients with digestive tract fistula were re-explored and performed continuous flushing-negative pressure aspiration and nutritional support treatment,and then discharged after improvement.Patients with gastroplegia and lung infection were discharged after corresponding conservative treatment.(3) Follow-up and survival:404 out of 472 patients were followed up for 7-31 months,with a median follow-up time of 19 months,including 212 in the robotic group and 192 in the laparoscopic group.The 3-year survival rates were 96.70% and 91.67% in the robotic group and laparoscopic group,with no statistically significant difference between the two groups (x2=1.037,P>0.05).During the follow-up,the tumor-beating survival rate and mortality of tumor recurrence of the robotic group were 0.47% and 2.36%,respectively,versus 1.04% and 6.77% of the laparoscopic group,with statistically significant differences between the two groups (x2 =3.198,4.208,P<0.05).Conclusion The Da Vinci robot-assisted radical gastrectomy for gastric cancer is safe and effective,which can reduce volume of intraoperative blood loss,shorten the postoperative recovery time,increase the number of lymph node dissection,however,it will increase the treatment expense.
6.Analysis of the main problems and countermeasures in the performance appraisal of tertiary public hospitals in China
Shimeng LIU ; Shiyu XIE ; Jing LIU ; Xiong KE ; Yingyao CHEN
Chinese Journal of Hospital Administration 2020;36(10):793-797
Strengthening the performance appraisal of tertiary public hospitals is key to advancing the healthcare system reform in China. Based on the practical experience of performance appraisal of tertiary public hospitals in one city, the authors named the bottlenecks and causes impeding effective implementation of performance appraisal from the aspects of data quality, index orientation, index determination and index calculation. On such basis, they put forward corresponding countermeasures and suggestions, such as effective control of the data quality, dialectical view of the index orientation, scientific allocation of performance indicator weight, and formulation fair and reasonable index scoring methods, aiming to provide references for performance appraisal in the future.
7.Cardio
Baiyu CHEN ; Shimeng CHEN ; Juan XIONG ; Fei YIN
Journal of Central South University(Medical Sciences) 2021;46(4):432-437
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.
Abnormalities, Multiple
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Child
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Ectodermal Dysplasia/genetics*
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Facies
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Failure to Thrive
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Heart Defects, Congenital/genetics*
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Humans
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Mutation
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Proto-Oncogene Proteins B-raf/genetics*
8. Application value of early postoperative enteral eco-immune nutrition in the nutritional support treatment for intra-abdominal infection: a prospective analysis
Zipeng XU ; Wenwen YU ; Wenjie WANG ; Shimeng XIONG ; Tingbao CAO ; Jianping YU ; Hongtao LI ; Hongbin LIU
Chinese Journal of Digestive Surgery 2019;18(10):934-939
Objective:
To explore the application value of early postoperative enteral eco-immune nutrition in the nutritional support treatment for intra-abdominal infection.
Methods:
The prospective study was conducted. The clinicopathological data of 62 patients with intra-abdominal infection who were admitted to the 940 Hospital of the People′s Liberation Army Joint Service Support Force from February 2018 to December 2018 were collected. All patients were randomly divided into two groups by the envelope method with double-blind technique, including patients who began being given enteral eco-immune nutrition preparation at postoperative 24-48 hours in eco-immune group and patients who began being given simple enteral nutrition preparation at 24-48 hours in control group. Observation indicators: (1) analysis of immune function indices before treatment and after 7 days of treatment in the two groups; (2) postoperative conditions in the two groups; (3) follow-up. Follow-up using telephone interview was performed to detect complications and recurrence of infection up to May 2019. Measurement data with normal distribution were represented as
9.Application of ventricular shunt for children with post-infective hydrocephalus.
Shimeng CHEN ; Jing PENG ; Xiaolu DENG ; Liwen WU ; Juan XIONG ; Haolin DUAN ; Pan PENG ; Fei YIN
Journal of Central South University(Medical Sciences) 2019;44(11):1230-1237
To investigate the effects of ventricular shunt placement in children with post-infective hydrocephalus.
Methods: A total of 24 cases of post-infectious hydrocephalus, who received ventricular shunt, were enrolled. Age, gender, disease progression, clinical manifestation, laboratory data, treatment, prognosis, complication, and sequela for each patient were retrospectively reviewed.
Results: Of the 24 cases, 8 had a full recovery, 11 had slight sequela, 2 had severe sequela, 1 was in vegetative state, and 2 died because of bacterial meningitis and tubercular meningitis. Epilepsy, mental impairment, visual and hearing damage were the main sequelae.
Conclusion: Ventricular shunt is the preferred treatment in children with post-infective hydrocephalus, which shows positive clinical efficacy and can improve the long-term prognosis of such patients.
Child
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Humans
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Hydrocephalus
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Retrospective Studies
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Treatment Outcome
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Tuberculosis, Meningeal
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Ventriculoperitoneal Shunt
10.NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.
Shimeng CHEN ; Xiaolu DENG ; Juan XIONG ; Baiyu CHEN ; Fang HE ; Lifen YANG ; Li YANG ; Jing PENG ; Fei YIN
Journal of Central South University(Medical Sciences) 2022;47(2):265-270
More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.
Child
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Epilepsy/genetics*
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Female
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Humans
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Intellectual Disability/genetics*
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Male
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Muscle Hypotonia/complications*
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Mutation
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Phenotype
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Seizures/genetics*
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Strabismus/complications*