1.Research progress on the relationship between miRNA and diagnosis and treatment of gastric cancer
Xixi HAN ; Jingwen KONG ; Yafeng ZHENG ; Bing SUN ; Chao WEI
Journal of Chinese Physician 2021;23(1):146-149
Gastric cancer is one of the most common malignant tumors in China, and its pathogenesis is complex. At present, there is no good method for the diagnosis and treatment of gastric cancer. However, studies have shown that microRNA (miRNA) has abnormal expression in gastric cancer, which participates in the regulation of gastric cancer related genes, and has an impact on the occurrence, development, diagnosis and treatment of gastric cancer. This paper aims to review the relationship between miRNA and the diagnosis and treatment of gastric cancer, as well as the drug resistance in the treatment, so as to lay the foundation for the follow-up research and clinical diagnosis and treatment.
2.Study on influence of Chinese patent medicine for cold on anticoagulation effect in postoperative patients with mechanical valve replacement
Chengcheng QIN ; Huogang JIANG ; Xixi LI ; Chen WANG ; Qian LUO ; Die HAN ; Li ZHANG
Chongqing Medicine 2016;45(20):2792-2794
Objective To evaluate the influence of Chinese patent medicine Banlangen Granules and Ganmao Qingre Granules on war‐farin anticogulation effect during the process for treating acute upper respiratory tract infection in the postoperative patients with mechanical valve replacement in order to provide the theoretical reference for clinical medication .Methods The patient receiving mitral valve replace‐ment ,aortic valve replacement or double‐valve replacement and long term postoperative oral warfarin anticoagulation treatment were select‐ed ,moreover the symptoms of complicating acute upper respiratory tract infection occurred .The patients were divided into 2 groups ,30 cases in each group .The group A adopted oral Banlangen Granules ,while the group B was treated by oral Ganmao Qingre Granules .The treat‐ment course was 3 d .The International Normalized Ratio (INR) in the two groups was monitored before medication ,at 72 h after medication and at 72 h after drug withdrawal .Complicating bleeding or embolism reaction was observed .The INR values at various time points were compared between the two groups and the INR values in each group were compared among 3 time points .Results The INR values in the Banlangen Granules group had statistical differences between 72 h and other two time points ,and the INR values at the same time point had statistical difference compared with the Ganmao Qingre Granules group (P<0 .05);the INR value in the Banlangen Granules group had no statistical difference between before medication and at 72 h after medication(P>0 .05) .Thirty cases had no complication occurrence .The Ganmao Qingre Granules group had no statistical difference among various time points (P>0 .05) ,thirty cases had no complication occur‐rence .Conclusion The warfarin combined with Banlangen Granules causes the INR value increase ,while warfarin combined with Ganmao Qingre Granules has no impact on the INR value ,therefore which suggests that the combination use of warfarin and Banlangen Granules should be cautious in clinic .
3.The distribution of abdominal and pelvic adipose tissue in malignant gynecologic tumor and benign gynecologic diseas
Keyang WANG ; Yuting LIANG ; Biao LI ; Xinlian WANG ; Ying LIANG ; Ying MENG ; Jiao MA ; Shanshan PENG ; Xixi HAN
Chongqing Medicine 2016;45(30):4186-4189
Objective To study the abdominal and pelvic adipose tissue volume and distribution in patients with malignant gynecologic tumor and benign gynecologic disease prospectively .Methods Eighty patients with malignant gynecologic tumor and eighty patients with benign gynecologic disease were underwent abdominal and pelvic CT scan by 64‐slice spiral CT and QCT cali‐bration phantom .The area and the volume of TAT ,VAT ,SAT of abdomen and(or) pelvis(TFV ,VFV ,SFV and VFV/SFV) were measured and calculated .The differences between the malignant gynecologic tumor group and the benign gynecologic disease group and between the different stages or types of malignant gynecologic tumor groups were compared ,then the distribution of AT was analyzed .Results (1)Except the VFV of abdomen and pelvis ,there were differences in TFV ,VFV and SFV between the malignant gynecologic tumor group and the benign gynecologic disease group(P<0 .05) ,the former was higher .(2)There were differences in abdominal and pelvic TFV ,VFV ,SFV between the early‐stage and the advanced‐stage malignant gynecologic tumor group and be‐tween the early‐stage and the benign gynecologic disease group(P< 0 .05) ,the early‐stage group was the highest;there was no difference between the advanced‐stage and the benign gynecologic disease group(P>0 .05) .There were differences in VFV/SFV between the early‐stage and the benign gynecologic disease group and between the advanced‐stage and the benign gynecologic dis‐ease group(P<0 .05) ,the benign gynecologic disease group was the highest ;there was no difference between the early‐stage and the advanced‐stage group(P>0 .05) .(3)There was no difference in abdominal and pelvic TFV ,VFV ,SFV ,VFV/SFV between the en‐dometrial carcinoma and the cervical carcinoma group(P>0 .05) .(4)There were positive correlations between abdominal or pelvic VFV ,SFV and abdominal and pelvic TFV ,the abdominal SFV was the highest .Conclusion The patients with malignant gyneco‐logic tumor ,especially in the early‐stage ,were much fatter than the patients with benign gynecologic disease .In malignant gyneco‐logic tumor patients ,the SAT increased more significantly than the VAT ,and had the highest correlation with TAT ,and was the mainly composition of obesity .
4.Clinical phenotype and genetic analysis of BRWD3 gene variation related infantile epileptic spasm syndrome
Menglin LI ; Xin ZHANG ; Li YANG ; Na XU ; Yuzeng HAN ; Liping ZHU ; Xixi YU ; Xin LI ; Yufen LI
Chinese Journal of Neurology 2024;57(2):141-148
Objective:To investigate the clinical phenotype and genetic characteristics of infantile epileptic spasm syndrome caused by BRWD3 gene mutation. Methods:Clinical data of a child with BRWD3 related infantile epileptic spasm syndrome who was admitted to Department of Pediatric Neurology of Linyi People′s Hospital on August 2, 2019 were collected and followed up, whole exome sequencing technology and Sanger sequencing were applied to verify the child and his parents, and the pathogenicity of mutation site was analyzed. The studies till June 2023 were searched with keywords of " BRWD3" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical phenotype and genetic characteristics of patients with BRWD3 related epilepsy were summarized. Results:The patient was a 4 years and 4 months old boy, with a clinical phenotype including severe global development delay, focal seizures (the onset age was 4 months), epileptic spasm (the onset age was 6 months), autism, megacephaly, high forehead as well as hypsarrhythmia. The whole exome sequencing results showed a de novo and frameshift variation c.4318_4319del(p.Q1441Efs*20)(NM_153252) in the BRWD3 gene, and the variation was interpreted as pathogenic (PVS1+PS2+PM2) according to the American College of Medical Genetics and Genomics variant classification criteria and guidelines. A total of 7 English literature articles were retrieved reporting 16 cases of BRWD3 gene related epilepsy in children (including 1 case of infantile epileptic spasm syndrome), and there has been no report in China yet. Totally there were 17 cases of BRWD3 gene related epilepsy including this case. All the cases showed X chromosome dominant inheritance, of whom 15 cases showed minor variations, including 7 missense variations, 3 frameshift variations, 3 splicing variations, 2 nonsense variations, and the remaining 2 cases showed large segment deletions. A total of 15 different variants were found. The phenotypes of the 17 patients mainly included epileptic seizures (17/17), intellectual disability (10/17), motor development disorder (7/17), speech impairment (9/17), megacephaly (8/17), facial malformation (8/17), autism (4/17) and hypotonia (4/17). The common seizure types were found to be focal seizures, occasionally epileptic spasm seizures and tonic seizures. Conclusions:BRWD3 gene variation related epilepsy is an X chromosome dominant genetic disease with a wide clinical phenotype spectrum. BRWD3 gene mutation c.4318_4319del(p.Q1441Efs *20) could cause infantile epileptic spasm syndrome, manifested as severe global developmental delay, epileptic spasm, focal seizures, autism, craniofacial malformation and hypsarrhythmia. This research enriches BRWD3 gene mutation spectrum.
5.Refractive status of children and adolescents in Gaoxin District of Chengdu
Chinese Journal of School Health 2022;43(10):1565-1569
Objective:
To investigate the refractive status of children and adolescents aged 4-18 years in Chengdu, and to analyze the epidemiological characteristics of refractive parameters.
Methods:
A cross sectional survey was conducted among 82 024 children and adolescents aged 4-18 years in Gaoxin District of Chengdu from August to September 2021. The prevalence of screening myopia, low vision rate, high myopia rate, refractive status and axial development were analyzed.
Results:
The prevalence of screening myopia in students aged 4-18 years was 40.42%(33 158/82 024). Low myopia was 24.51%(20 108/82 024), moderate myopia was 13.05%(10 703/82 024) and high myopia was 2.86%(2 347/82 024). The prevalence of screening myopia was 1.81% (233/12 848) in kindergarten, 34.44%(17 095/49 644) in primary school, 79.73%(9 738/12 214) in junior high school and 83.25% (6 092/7 318) in senior high school. The rate of visual impairment increased by year from the age of 4, and the rate of myopia increased most rapidly from 6 to 15 years old, the prevalenct of high myopia was compared between adjacent age groups: there were statistical differences between 9-15 years old were more likely to be nearsighted than boys( P <0.035 7). Significant differences in screening myopia between 5- and 7-17 year old groups,and in boys and girls.The median total diopter was 0.40 D at the age of 4 and developed to -2.90 D at the age of 18 . The diopter of girls aged 8-15 years was higher than that of boys, and there was statistical significance( Z=-2.53, -4.09, -5.67, -8.64, -5.56, -4.97, -2.52, -2.14, P <0.05). The axial length gradually increased with age, with the mean value of (22.31±0.59) mm at 4 years old and (24.91±1.00) mm at 18 years old. The mean corneal curvature did not change with age (43.19±1.47)D.
Conclusion
6-15 years old is a especially critical period for myopia development. More efforts need to be taken to decrease the prevalence of myopia before 6 years old. Prevention of the development of high myopia should start before the age of 10. The prevalence of myopia in girls is higher than that in boys, more prevention and control of myopia should focus on girls.
6.De novo Huntington′s disease due to paternal intermediate alleles: a case report and literature review
Anqi HUANG ; Shanshan MEI ; Yan HAN ; Xixi YANG ; Lili CUI ; Suobin WANG ; Huiqing DONG ; Cunjiang LI ; Hua LIN
Chinese Journal of Neurology 2023;56(9):992-1000
Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.
7.Clinical and genetic analyses of 11 children with epilepsy associated with SCN2A gene variations
Xixi YU ; Xin ZHANG ; Li YANG ; Shiyan QIU ; Yufen LI ; Yuzeng HAN ; Jiguo SONG ; Na XU ; Liping ZHU
Chinese Journal of Neuromedicine 2023;22(12):1198-1205
Objective:To summarize the clinical and genetic characteristics of children with epilepsy associated with SCN2A gene variations. Methods:A retrospective study was performed. Eleven children with epilepsy admitted to Department of Pediatric Neurology, Linyi People's Hospital from January 2017 to December 2022 were included; all of them had pathogenic SCN2A gene mutation. Genetic results and clinical data as epileptic seizure type/frequency, intelligence and motor development of these 11 children were collected. Epilepsy-related variations and pathogenesis of SCN2A gene were analyzed, and their correlations with clinical phenotypes in these children were analyzed. Results:Among the 11 patients, 6 had self-limited epilepsy (4 with variation in the intracellular domain and 2 in the transmembrane domain), 1 had febrile convulsion accompanied by childhood absent epilepsy (with variation in the intracellular domain), and 4 had developmental epileptic encephalopathy (2 with variation in the extracellular domain and 2 with variation in the transmembrane domain). SCN2A gene was missense mutation in these 11 children, and the mutation site in 6 children was not reported before. Various forms of video EEG discharge were noted, and 1 child with self-limited epilepsy showed transient multifocal epileptic discharge during frequent seizures. Oxcarbazepine and topiramate were effective for self-limiting epilepsy, and lamotrigine was effective in 1 child with late-onset epileptic encephalopathy. Eleven patients were followed up for (66±32) months; the age ranged from 8 months to 11 years and 6 months at the last follow-up; 10 patients had seizure remission and 1 had uncontrolled seizure. Conclusions:Besides self-limited epilepsy and developmental epileptic encephalopathy, SCN2A gene mutations are also associated with febrile convulsion and childhood absent epilepsy. Phenotypic differences are highly correlated with mutation locations; developmental epileptic encephalopathy associated variants are mostly located in extracellular domains, while self-limited epileptic variants are mostly located in intracellular domains.
8.Analyses of clinical features and efficacy of sudden deafness with vertigo and dizziness.
Bo LIU ; Demin HAN ; Email: HANDM@TRHOS.COM. ; Yi ZHANG ; Yongxin LI ; Shusheng GONG ; Xiuwu CHEN ; Xixi MENG ; Junxiang TANG ; Jie XIANG ; Xuejun JIANG ; Email: DJIANGXJ@163.COM. ; Ning YANG ; Ying TIAN ; Lian HUI ; Shuai FENG ; null
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2015;50(6):463-467
OBJECTIVETo investigate the clinical characteristics and the effect of drug treatment for sudden hearing loss with vertigo or dizziness.
METHODSIn a prospective, randomized, single blinded randomized multicenter clinical study, patients with sudden deafness, ranging in age from 18 to 65 years old, with a duration less than 2 weeks, and with no any medical treatments were collected. In accordance with the hearing curve, those patients were divided into four types, i.e., low and intermediate frequency descent type; high frequency descent type; fall flat type; and total deafness type. Each type was treated by four different treatment options, according to the unified design of the random table, and randomly selected one of the options for treatment. The efficacy of the patients with sudden deafness with vertigo and dizziness was analyzed statistically after the follow-up for 4 weeks. SPSS 13.0 software was used to analyze the data.
RESULTSIn August 2007 to October 2011, 33 hospitals in the country included 1 024 patients with sudden deafness in line with the inclusion criteria, of whom 296 (28.91%) were accompanied by vertigo/dizziness symptoms, 126 were males and 170 were females, with an average age of (41.2 ± 13.5) years old. types of the different audiometric curves of sudden deafness, the occurrence of complete deafness with vertigo/dizziness was the highest (44.93%), followed by flat down type (25.87%), high frequency descent type (21.28%) and low intermediate frequency descent type (18.54%). After the standard treatment, the vertigo and dizziness symptoms of the sudden deafness patients could disappear, and the hearing in each group was obviously improved. The hearing curative effect on patients accompanied by vertigo/dizziness of low frequency and intermediate frequency descent type was the best, and the total efficiency can reach up to 94.74%, with the cure rate of 68.42%; followed by flat type, in which the total effective rate was 80.76%, with the recovery rate of 22.12%; and the effects on patients in high frequency descent type and total deafness type effect were relatively poor, in which the total effective rates were 70.00% (recovery rate of 10.00%) and 65.32% (recovery rate of 5.65%), respectively. The total effective rate of patients with sudden deafness associated with halo had no statistical significance (P > 0.05), in comparison to that of patients without halo; but, the cure rate of patients with no vertigo/dizziness of total deafness and the high frequency decreased patients with sudden deafness was significantly higher than that of vertigo/dizziness patients, with a statistical difference (P < 0.05).
CONCLUSIONSThe patients with sudden deafness in each type have a certain proportion of vertigo/dizziness, especially the deaf type. The possibility of hearing complete recovery in patients with vertigo/dizziness was significantly lower than that without vertigo/dizziness.
Adult ; Audiometry ; Dizziness ; complications ; therapy ; Female ; Hearing Loss, Sudden ; complications ; therapy ; Hearing Tests ; Humans ; Male ; Middle Aged ; Prospective Studies ; Single-Blind Method ; Software ; Vertigo ; complications ; therapy