1.Study on the Relationship between Serum LncRNA SNHG11 and HIF-1α Level Expression and Vasculogenic Mimicry of Cancer Tissues in Ovarian Cancer
Lifen YANG ; Jianqing HE ; Lixin YIN
Journal of Modern Laboratory Medicine 2024;39(2):28-33
		                        		
		                        			
		                        			Objective To investigate the relationship between the expression of long non-coding RNA(LncRNA)small nucleolar RNA host gene 11(SNHG11)and hypoxia inducible factor(HIF)-1α and angiogenesis mimicry(VM)in ovarian cancer.Methods A total of 116 ovarian cancer patients admitted to Tangshan Maternal and Child Health Care Hospital from October 2019 to January 2023 were regarded as the research subjects.Based on whether VM had formed,ovarian cancer patients were grouped into VM group(n=51)and non VM group(n=65).Another 50 partients who underwent health examinations during the same period were regarded as the control group.Real-time fluorescence quantitative PCR(qPCR)was applied to detect the expression levels of LncRNA SNHG11 and HIF-1α in serum of ovarian cancer patients and control groups.Spearman correlation was applied to detect the relationship between LncRNA SNHG11,HIF-1α,and VM formation.The diagnostic value of LncRNA SNHG11,HIF-1α,and their combined detection in the formation of VM in ovarian cancer patients was analyzed using the receiver operating characteristic(ROC)curve.Results Compared with the control group,the levels of serum LncRNA SNHG11(3.01±0.88,2.21±0.68 vs 1.12±0.35)and HIF-1α(2.16±0.67,1.60±0.44 vs 1.01±0.31)in ovarian cancer patients with VM group and non VM group were increased(t=12.136,9.006;19.890,16.591,all P>0.05),the levels of serum LncRNA SNHG11 and HIF-1αin the VM group were obviously higher than those in the non VM group(t=8.957,8.595),and the differences were statistically significant(all P<0.05).The expression of LncRNA SNHG11,HIF-1α,and the formation of VM were not related to age and tissue type(t=1.036,0.976,0.218;1.254,1.390,0.368,all P>0.05),but were related to tumor size,FIGO staging,lymph node metastasis,and pathological grading(t=5.351,5.186,13.264;5.465,5.227,10.898;6.063,6.016,5.374;4.030,5.871,5.509,all P<0.05).Spearman correlation analysis showed that there were obvious positive correlations between LncRNA SNHG11,HIF-1α,and VM generation(r=0.560,0.494,all P<0.05).ROC curve results showed that the areas under the curve(AUCs)of serum LncRNA SNHG11 and HIF-1α for diagnosing VM formation in ovarian cancer patients were 0.860 and 0.824,respectively,with sensitivity of 80.4%and 75.6%,specificity of 58.9%and 51.9%,respectively.The AUC of VM formation in ovarian cancer patients diagnosed by the combination of the two was 0.941,with sensitivity and specificity were 92.2%and 79.9%,respectively.Conclusion The abnormal expressions of LncRNA SNHG11 and HIF-1α were closely related to the formation of VM in ovarian cancer patients,and both may serve as potential biological indicators for judging VM.
		                        		
		                        		
		                        		
		                        	
2.One case of Turnpenny-Fry syndrome presenting as infantile epileptic spasm syndrome
Ying SUN ; Lifen DUAN ; Runxiu YIN ; Yi ZHANG ; Lei YE ; Wei YU
Chinese Journal of Applied Clinical Pediatrics 2024;39(8):609-612
		                        		
		                        			
		                        			A retrospective analysis was made on the clinical data of a child with Turnpenny-Fry syndrome who was treated in the Epilepsy Center of Kunming Children′s Hospital in January 2023 for developmental retardation and epileptic spasm.The child, a 1-year-and-4-month-old boy, had developmental retardation since birth and developed epileptic spasm at the age of 5 months.Physical examination and auxiliary examination showed distinct facial features, heart, bone and other developmental malformations.Electroencephalogram indicated hypsarrhythmia and epileptic spasm.The genetic test suggested the presence of c. 194C>T (p.Pro65Leu), a new heterozygous mutation in PCGF2 gene.The seizures were completely controlled with anti-seizure drugs.This child is the only case reported with infantile epileptic spasm as the main manifestation so far, expanding the understanding of the phenotype of the disease.
		                        		
		                        		
		                        		
		                        	
3.HuiNet report of 2023: The distribution and antimicrobial resistance profile of clinical bacterial isolates in Anhui
Yanyan LIU ; Yasheng LI ; Liang YU ; Yi YANG ; Ting WU ; Jun YIN ; Lifen HU ; Ying YE ; Jiabin LI
Chinese Journal of Clinical Infectious Diseases 2024;17(2):113-125
		                        		
		                        			
		                        			Objective:To analyse the distribution and antimicrobial resistance profile of clinical bacterial isolates in Anhui province.Methods:Surveillance data was collected from 83 members of the Anhui Antimicrobial Resistance Surveillance Network(HuiNet)during October 2022 to September 2023,to analyze the resistance of major bacteria to commonly used antibiotics and the detection of clinically common drug-resistant bacteria. The data was analyzed using WHONET 5.6 and SPSS 25.0 software.Results:A total of 201 647 clinical bacteria isolates were collected,with Gram-negative bacteria accounting for 74.8%(150 847/201 647). The most prevalent Gram-positive bacterial strains were Staphylococus aureus(32.8%,16 648/50 800),followed by Staphylococcus epidermidis(14.0%,7 098/50 800), Enterococcus faecalis(10.7%,5 458/50 800), Enterococcus faecium(9.1%,4 613/50 800)and Staphylococcus hominis(7.4%,3 778/50 800);the most prevalent Gram-negative bacterial strains were Escherichia coli(28.9%,43 577/150 847),followed by Klebsiella pneumoniae(22.5%,34 006/150 847), Pseudomonas aeruginosa(14.7%,22 171/150 847), Acinetobacter baumannii complex(9.4%,14 194/150 847)and Enterobacter cloacae(3.5%,5 235/150 847). The prevalence of methicillin-resistant Staphylococcus aureus(MRSA)and methicillin-resistant coagulase-negative Staphylococcus aureus(MRCNS)were 39.5%(6 442/16 325)and 75.7%(12 343/16 312),respectively. No vancomycin- and teicolanin-resistant Staphylococcus were detected. The prevalence of vancomycin-resistant Enterococcus faecium and Enterococcus faecalis were 0.5% and 0.6%,respectively. The prevalence of carbapenem-resistant Escherichia coli and Klebsiella pneumoniae(CR-KPN)were 1.9%(805/42 956)and 11.7%(3 950/33 761),respectively. The resistance rate of CR-KPN to tigecycline was 3.9%. The prevalence of carbapenem-resistant Pseudomonas aeruginosa(CR-PAE)and Acinetobacter baumannii(CR-ABA)complex were 18.4%(3 936/21 447)and 62.9%(8 649/13 744),respectively,with low resistance rate to polycolistin B(6.9% and 1.7%,respectively). The detection rates of MRSA,CR-ABA complex,third-generation cephalosporin-resistant Escherichia coli(CTX/CRO-R-ECO)and quinolone-resistant Escherichia coli(QNR-ECO)in northern Anhui were the highest(50.3%,72.9%,59.2% and 55.6%,respectively),which were higher than those in central and southern Anhui( χ2=112.734 and 575.069,132.747 and 233.885,93.986 and 471.209,60.062 and 230.669,all P<0.001),and the detection rate in central Anhui was higher than that in southern Anhui( χ2=278.671,29.219,207.395 and 80.267,all P<0.001). The detection rates of CR-KPN and thirdgeneration cephalosporinresistant Klebsiella pneumoniae(CTX/CRO-R-KPN)in central Anhui were the highest(15.5% and 33.3%,respectively),which were higher than those in northern and southern Anhui( χ2=156.237 and 325.533,76.928 and 180.686,all P<0.001),and the detection rate in northern Anhui was higher than that in southern Anhui( χ2=32.202 and 25.539, P<0.001). The detection rates of CTX/CRO-R-ECO and QNR-ECO were the highest in the elderly(55.2% and 55.8%,respectively),which were higher than those in children,and young and middle aged adults( χ2=23.906 and 120.575,376.404 and 196.612, P<0.001). The detection rate of CTX/CRO-R-KPN in neonates was the highest(57.1%),which was significantly higher than that in children,adults and the elderly( χ2=46.141,38.843 and 32.093, P<0.001),and the detection rate in the elderly was higher than that in children and adults( χ2=13.604 and 13.471, P<0.001). The detection rates of MRSA and MRCNS were the highest in children(42.8% and 77.8%,respectively),which were higher than those in adults( χ2=21.766 and 10.704, P<0.001). Except MRSA and vancomycin-resistant Enterococcus faecium and faecalis,the detection rates of major drug-resistant bacteria in tertiary hospitals were higher than those in secondary hospitals( P<0.05 or <0.01). Conclusion:In 2023,the situation of antimicrobial resistance in Anhui province was serious,especially in northern and central Anhui,and targeted drug resistance control measures should be taken according to the monitoring results. At the same time,it is necessary to pay attention to the bacterial resistance in the elderly,newborns and children,and strengthen the rational use of antibiotics by clinicians to curb the spread of drug-resistant bacteria.
		                        		
		                        		
		                        		
		                        	
4.Research on the pathogenesis of neurodevelopmental disorders
Journal of Chinese Physician 2023;25(12):1761-1763
		                        		
		                        			
		                        			Neurodevelopmental disorder (NDD) is a kind of chronic developmental brain dysfunction disease, with strong phenotypic heterogeneity, complex etiology, strong heredity, most of which lack effective drug treatment, and high incidence rate and disability rate. With the advancement of detection technology, more and more mechanisms of NDD have been discovered, driving the progress of its drug treatment. Strengthening research on the pathogenesis of NDD in the future will contribute to the development of better treatments, thereby improving the quality of life and prognosis of patients.
		                        		
		                        		
		                        		
		                        	
5.Comparison of four frailty assessment tools in preoperative assessment of elderly colorectal cancer patients
Jiawei FAN ; Ying WANG ; Xiaoqing SHI ; Shuwen QIN ; Lifen MAO ; Yaling XU ; Jianhua YIN
Chinese Journal of Modern Nursing 2023;29(20):2743-2749
		                        		
		                        			
		                        			Objective:To compare the consistency of preoperative frailty assessment in elderly colorectal cancer patients using Frailty Phenotype (FP), FRAIL Scale (FS), Clinical Frailty Scale (CFS), and Edmonton Frailty Scale (EFS), and their predictive performance in predicting the postoperative complication, so as to provide reference for nurses to choose appropriate frailty assessment tools.Methods:From December 2020 to October 2021, 207 elderly patients who underwent radical surgery for colorectal cancer at the General Surgery of the First Affiliated Hospital of Soochow University were selected as the study subject by convenience sampling. FP, FS, CFS, and EFS were used to assess patients' frailty. Taking postoperative complications as the outcome indicator, the predictive performance of four frailty assessment tools was compared using the receiver operating characteristic (ROC) curve and Bayes discriminant analysis.Results:The frailty detection rates of FP, FS, CFS, and EFS in 207 elderly colorectal cancer patients were 19.8% (41/207), 11.6% (24/207), 22.2% (46/207), and 10.1% (21/207), respectively. The areas under the ROC curves of FP, FS, CFS, and EFS were 0.714, 0.643, 0.737, and 0.665, respectively, with statistically significant differences (all P<0.01). Pairwise comparison found that there were statistically significant differences in the area under the ROC curve between FP and FS, FS and CFS, CFS and EFS ( P<0.05). The cross validation accuracy of FP, FS, CFS and EFS in predicting the postoperative complication in elderly colorectal cancer patients was 78.7%, 68.6%, 76.3%, and 75.8%, respectively. Conclusions:FP and CFS have moderate predictive performance for postoperative complications in elderly colorectal cancer patients, and there is no difference in predictive performance between the two. Both CFS and FP can be used for the assessment of preoperative frailty in elderly colorectal cancer patients, but considering clinical applicability, CFS is recommended.
		                        		
		                        		
		                        		
		                        	
6.Precise diagnosis and treatment of pediatric central nervous system immune-related disease under molecular era
Journal of Chinese Physician 2022;24(10):1441-1444
		                        		
		                        			
		                        			Pediatric central nervous system (CNS) immune-related disease is a group of heterogeneous inflammatory conditions mainly affecting CNS. They usually happen in previously healthy individual, with varied clinical manifestations, pathophysiology and genetic changes. Patients require different therapy as well as have different prognosis. Immunotherapy often is helpful to control the disease. With the development of molecular techniques within the recent 10 years, the clinical spectrum and pathogenesis of these neuroinflammatory diseases is being recognized. Further investigations into these diseases are helpful for early diagnosis and targeted immunotherapy, contribute to decrease the mortality and morbidity, then improve the clinical outcome eventually. This study mainly discuss the neuroinflammatory diseases primarily happen in CNS.
		                        		
		                        		
		                        		
		                        	
7.Progress in diagnosis and treatment of myasthenia gravis in children
Xi HUANG ; Lifen YANG ; Baiyu CHEN ; Fei YIN
Journal of Chinese Physician 2022;24(10):1454-1459
		                        		
		                        			
		                        			Myasthenia gravis (MG) is an autoimmune disease with neuromuscular junction (NMJ) transmission disorder mediated by various antibodies, dependent on cellular immunity, and involved in complement and cytokines. MG is one of the common diseases in pediatric neurology, which is different from adult MG in diagnosis and treatment. However, there is still a lack of accurate and efficient diagnosis and treatment plan for pediatric MG. In recent years, with the development of pathogenesis, targeted diagnosis and treatment of NMJ transmission disorders caused by immune network disorders in immunopathology and pathogenic antibodies is the current main research direction. This article reviews the progress of auxiliary examination and treatment of MG in children.
		                        		
		                        		
		                        		
		                        	
8.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.
		                        		
		                        		
		                        		
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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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		                        			Seizures/genetics*
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		                        			Strabismus/complications*
		                        			
		                        		
		                        	
9. Immunotherapy and prognosis of autoimmune encephalitis
Fang HE ; Jing PENG ; Lifen YANG ; Liwen WU ; Xiaolu DENG ; Ciliu ZHANG ; Fei YIN
Chinese Journal of Applied Clinical Pediatrics 2019;34(24):1855-1857
		                        		
		                        			
		                        			 Autoimmune encephalitis(AE) is one of the most rapidly developing research fields in pediatric neurology.Previous studies have indicated that delayed-use or non-use of immunotherapy will lead to poor prognosis.Therefore, this article summarizes the current opinion of immunotherapy and prognostic factors for AE in order to provide treatment guidance for clinicians. 
		                        		
		                        		
		                        		
		                        	
10. Clinical analysis of 71 cases of anti-N-methyl-D-aspartate receptor encephalitis in children
Guoli WANG ; Fei YIN ; Ying WANG ; Weixi ZHANG ; Fang HE ; Lifen YANG ; Liwen WU ; Jing PENG
Chinese Journal of Pediatrics 2019;57(2):125-130
		                        		
		                        			 Objective:
		                        			To investigate the clinical features, treatment strategies and long term outcomes of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.
		                        		
		                        			Methods:
		                        			The data of clinical features, auxiliary examinations, treatments and prognosis in children with anti-NMDAR encephalitis in Xiangya Hospital of Central South University from March 2014 to October 2017 were collected and retrospectively analyzed. A total of 71 patients were enrolled, including 33 males and 38 females. The youngest age of onset was 4 months old, and the age of onset was (9±4) years. The first-line immunotherapy treatment for anti-NMDAR encephalitis was short course corticosteroid (high-dose impulse therapy and oral maintenance therapy for 1 month in acute period) and (or) immunoglobulin. The clinical evaluation was performed 2 weeks after first-line immunotherapy treatment. The second-line immunotherapy treatment, including rituximab and (or) cyclophosphamide, would be started if the symptoms did not improve significantly and the modified Rankin scale (mRS) score ≥3. All patients were followed up and evaluated for prognosis. 
		                        		
		                        	
            
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