1.Relationship between the expressions of long noncoding RNA HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues and prognosis
Longchao QIN ; Qian ZHAO ; Xueyan REN ; Kaili SUN ; Jiaojiao REN ; Lina PENG ; Haiping HAN
Journal of Chinese Physician 2025;27(7):994-998
Objective:To explore the expressions of long noncoding RNA (lncRNA) homeobox A11 antisense RNA (HOXA11-AS) and lymphoid enhancer-binding factor 1 antisense RNA 1 (LEF1-AS1) in hypopharyngeal carcinoma tissues and their relationships with prognosis.Methods:Prospectively, 80 patients with hypopharyngeal carcinoma who were treated in Handan Central Hospital from February 2019 to February 2021 were selected. The hypopharyngeal carcinoma tissues resected surgically and the adjacent normal tissues (more than 2 cm away from the edge of the cancer tissue) were obtained. The expressions of HOXA11-AS and LEF1-AS1 were detected by real-time fluorescence quantitative polymerase chain reaction (RT-qPCR). The expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues and adjacent normal tissues were compared. The relationships between their expressions and clinicopathological features were analyzed. The Kaplan-Meier method was used to analyze the relationships between high/low expressions of HOXA11-AS and LEF1-AS1 and the prognosis of patients with hypopharyngeal carcinoma.Results:The expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues were higher than those in adjacent normal tissues (all P<0.05). The expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues were related to tumor node metastasis (TNM) stage, degree of differentiation, and lymph node metastasis (all P<0.05). The 3-year overall survival rates of patients with high expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues were lower than those of patients with low expressions (all P<0.05). Conclusions:The expressions of HOXA11-AS and LEF1-AS1 are increased in hypopharyngeal carcinoma tissues, which are related to poor prognosis of patients with hypopharyngeal carcinoma.
2.A case report of neurodevelopmental disorder with seizures caused by de novoNBEA gene variation and review of literature
Huimin ZHAO ; Cheng YE ; Ying LI ; Shufeng YU ; Kaili SHI
Chinese Journal of Neurology 2025;58(10):1073-1079
Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.
3.Application of divisional design in composite labia minora and clitoral hood reduction
Kang YIN ; Guoping WU ; Xiangxu LI ; Yuming QU ; Kaili YAN ; Liping ZHAO
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(5):502-506
Objective:To investigate the clinical effect of the divisional design in composite labia minora and clitoral hood reduction.Methods:A retrospective analysis was performed on 57 patients diagnosed with labia minora and clitoral hood hypertrophy at Department of Plastic Surgery, Nanjing Medical University Friendship Plastic Surgery Hospital between July 2018 and May 2021. The ages of the patients ranged from 24 to 45 years with an average of (31.0±8.2) years. Preoperative symptoms and surgical demands included: appearance concerns in 57 cases (100%), irritation during friction in 49 cases (86.0%), and discomfort during intercourse in 22 cases (38.6%). The complex hypertrophy was divided into simple labia minora hypertrophy and clitoral hood hypertrophy. Then the reduction of clitoris hood was performed according to the prepuce morphology, and labiaplasty was performed using edge resection. The operative effects, patient satisfaction, and postoperative complications were assessed.Results:All incisions healed primarily with no flap necrosis or marginal infections. Hematoma occurred in 1 case which recovered well after timely treatment. All patients were followed up for 3-12 months. 54 cases were satisfied with the labia minora and clitoral hood shape and reported no sensory abnormality. Bilateral asymmetry occurred in 2 cases, one of which required further surgical repair. Scar hyperplasia occurred and was gradually softened after 6 months in 1 case. Of the 57 patients with appearance concerns, 55 (96.5%) patients reported improved appearance postoperatively. Of the 49 patients with preoperative friction discomfort, 47 (95.9%) patients achieved symptom relief. Of the 22 patients reporting sexual discomfort, 15 (68.1%) patients noted enhanced sexual satisfaction postoperatively. Overall, 54 (94.7%) patients were satisfied, 2 (3.5%) patients were moderately satisfied, and 1 (1.8%) patient was unsatisfied.Conclusions:For patients with labia minora and clitoral hood hypertrophy, the application of divisional design is surgically simple and safe. It achieves satisfactory outcomes with no severe adverse reactions.
4.Effect of semaglutide on serum metabolomics in obese patients with type 2 diabetes mellitus complicated with metabolic-associated fatty liver disease
Shu NIU ; Chenxi WANG ; Yubin ZHAO ; Di WU ; Kaili YANG
Chinese Journal of Internal Medicine 2025;64(12):1218-1225
Objective:To investigate the effect of semaglutide on the metabolomics of obese patients with type 2 diabetes mellitus (T2DM) complicated by metabolic-associated fatty liver disease (MAFLD).Methods:A prospective non-randomized controlled study was conducted. Obese patients with T2DM complicated by MAFLD who attended the Department of Endocrinology of Shijiazhuang People′s Hospital from October 2022 to June 2023 were selected as the semaglutide group, and healthy individuals from the physical examination center were selected as the control group. Clinical data of both groups were collected. The semaglutide group was subcutaneously injected with semaglutide following a basic hypoglycemic regimen (starting dose of 0.25 mg once a week, which was changed to 0.5 mg once a week after 1 week for 12 weeks). Liquid chromatography-tandem mass spectrometry was used for qualitative and quantitative analyses of plasma metabolites, and multivariate analysis methods were used to analyze the metabolomics data.Results:In total, 69 patients in the semaglutide group completed the treatment, with 49 males (71%) and a median age of 46 (36, 54) years, and the healthy control group consisted of 100 individuals, with 38 males (38%) and a median age of 40 (35, 45) years. The body mass index and levels of fasting blood glucose, alanine aminotransferase, and interleukin-6 (IL-6) in the semaglutide group before treatment were significantly higher than those in the control group (all P<0.001). The body mass index [23.65 (22.33, 24.45) vs. 28.72 (27.50, 32.07) kg/m 2], liver stiffness measurement [1.61 (0.91, 2.00) vs. 5.78 (5.51, 6.10) kPa], and homeostasis model assessment of insulin resistance index [5.10 (2.90, 7.95) vs. 9.00 (6.25, 11.80)] in the semaglutide group were significantly lower after treatment than before treatment (all P<0.001), and the blood glucose, blood lipid, liver function indicator, and IL-6 levels all significantly decreased after treatment. Metabolomics analysis revealed that there were 219 differential metabolites (131 up-regulated and 88 down-regulated) between the semaglutide group ( n=27) before treatment and the control group ( n=12), with glycerophospholipids and free fatty acids being significantly up-regulated. The semaglutide group showed 203 differential metabolites (121 up-regulated and 82 down-regulated) after treatment compared with before, with significant down-regulation of long-chain fatty acids and significant up-regulation of metabolites including carnitines, branched-chain amino acids, and taurine. Kyoto Encyclopedia of Genes and Genomes pathway analysis revealed that the differential metabolites identified before and after semaglutide treatment were involved in several signaling pathways, such as biosynthesis of unsaturated fatty acids, linoleic acid metabolism, aldosterone synthesis and secretion, and the mTOR signaling pathway, etc. Conclusion:Semaglutide alters the serum metabolite levels in obese patients with T2DM complicated by MAFLD.
5.Meta-synthesis of qualitative studies on the feeling of mental experience during dietary management for patients with inflammatory bowel disease
Xiao CONG ; Jie SONG ; Longhui XU ; Wenxuan ZHAO ; Jie SUN ; Kexin PU ; Kaili LYU
Chinese Journal of Practical Nursing 2025;41(29):2265-2272
Objective:To systematically evaluate the authentic feeling of mental experience among patients with inflammatory bowel disease (IBD) in the process of dietary management, aiming to provide insights for maintaining the psychological well-being of patients with IBD and strengthening their dietary management.Methods:The qualitative studies related to dietary management in patients with IBD from China National Knowledge Infrastructure, Wanfang, VIP, China Biomedical Database, PubMed, Web of Science, Embase, Cochrane Library, CINAHL and PsyINFO were searched from inception to January 31st 2025. Quality evaluation criteria for qualitative research of Joanna Briggs Institute, Australia, 2016 edition was used for literature evaluation. Meta integration method was used to integrate and analyze the literature findings.Results:A total of 11 articles were included in the review, from which 22 research findings were extracted and categorized into 7 groups, culminating in 3 integrated outcomes: IBD patients experienced complex emotions, IBD patients faced multiple pressures and IBD patients had ambivalent coping.Conclusions:IBD patients manifest profound psychological complexities throughout dietary management processes. Future healthcare professionals can implement multifaceted psychological intervention strategies to relieve psychological distress, promote positive emotion, overcome negative coping, and ultimately enhance the competence of dietary self-management among IBD patients.
6.Meta-synthesis of qualitative studies on the feeling of mental experience during dietary management for patients with inflammatory bowel disease
Xiao CONG ; Jie SONG ; Longhui XU ; Wenxuan ZHAO ; Jie SUN ; Kexin PU ; Kaili LYU
Chinese Journal of Practical Nursing 2025;41(29):2265-2272
Objective:To systematically evaluate the authentic feeling of mental experience among patients with inflammatory bowel disease (IBD) in the process of dietary management, aiming to provide insights for maintaining the psychological well-being of patients with IBD and strengthening their dietary management.Methods:The qualitative studies related to dietary management in patients with IBD from China National Knowledge Infrastructure, Wanfang, VIP, China Biomedical Database, PubMed, Web of Science, Embase, Cochrane Library, CINAHL and PsyINFO were searched from inception to January 31st 2025. Quality evaluation criteria for qualitative research of Joanna Briggs Institute, Australia, 2016 edition was used for literature evaluation. Meta integration method was used to integrate and analyze the literature findings.Results:A total of 11 articles were included in the review, from which 22 research findings were extracted and categorized into 7 groups, culminating in 3 integrated outcomes: IBD patients experienced complex emotions, IBD patients faced multiple pressures and IBD patients had ambivalent coping.Conclusions:IBD patients manifest profound psychological complexities throughout dietary management processes. Future healthcare professionals can implement multifaceted psychological intervention strategies to relieve psychological distress, promote positive emotion, overcome negative coping, and ultimately enhance the competence of dietary self-management among IBD patients.
7.Effect of semaglutide on serum metabolomics in obese patients with type 2 diabetes mellitus complicated with metabolic-associated fatty liver disease
Shu NIU ; Chenxi WANG ; Yubin ZHAO ; Di WU ; Kaili YANG
Chinese Journal of Internal Medicine 2025;64(12):1218-1225
Objective:To investigate the effect of semaglutide on the metabolomics of obese patients with type 2 diabetes mellitus (T2DM) complicated by metabolic-associated fatty liver disease (MAFLD).Methods:A prospective non-randomized controlled study was conducted. Obese patients with T2DM complicated by MAFLD who attended the Department of Endocrinology of Shijiazhuang People′s Hospital from October 2022 to June 2023 were selected as the semaglutide group, and healthy individuals from the physical examination center were selected as the control group. Clinical data of both groups were collected. The semaglutide group was subcutaneously injected with semaglutide following a basic hypoglycemic regimen (starting dose of 0.25 mg once a week, which was changed to 0.5 mg once a week after 1 week for 12 weeks). Liquid chromatography-tandem mass spectrometry was used for qualitative and quantitative analyses of plasma metabolites, and multivariate analysis methods were used to analyze the metabolomics data.Results:In total, 69 patients in the semaglutide group completed the treatment, with 49 males (71%) and a median age of 46 (36, 54) years, and the healthy control group consisted of 100 individuals, with 38 males (38%) and a median age of 40 (35, 45) years. The body mass index and levels of fasting blood glucose, alanine aminotransferase, and interleukin-6 (IL-6) in the semaglutide group before treatment were significantly higher than those in the control group (all P<0.001). The body mass index [23.65 (22.33, 24.45) vs. 28.72 (27.50, 32.07) kg/m 2], liver stiffness measurement [1.61 (0.91, 2.00) vs. 5.78 (5.51, 6.10) kPa], and homeostasis model assessment of insulin resistance index [5.10 (2.90, 7.95) vs. 9.00 (6.25, 11.80)] in the semaglutide group were significantly lower after treatment than before treatment (all P<0.001), and the blood glucose, blood lipid, liver function indicator, and IL-6 levels all significantly decreased after treatment. Metabolomics analysis revealed that there were 219 differential metabolites (131 up-regulated and 88 down-regulated) between the semaglutide group ( n=27) before treatment and the control group ( n=12), with glycerophospholipids and free fatty acids being significantly up-regulated. The semaglutide group showed 203 differential metabolites (121 up-regulated and 82 down-regulated) after treatment compared with before, with significant down-regulation of long-chain fatty acids and significant up-regulation of metabolites including carnitines, branched-chain amino acids, and taurine. Kyoto Encyclopedia of Genes and Genomes pathway analysis revealed that the differential metabolites identified before and after semaglutide treatment were involved in several signaling pathways, such as biosynthesis of unsaturated fatty acids, linoleic acid metabolism, aldosterone synthesis and secretion, and the mTOR signaling pathway, etc. Conclusion:Semaglutide alters the serum metabolite levels in obese patients with T2DM complicated by MAFLD.
8.A case report of neurodevelopmental disorder with seizures caused by de novoNBEA gene variation and review of literature
Huimin ZHAO ; Cheng YE ; Ying LI ; Shufeng YU ; Kaili SHI
Chinese Journal of Neurology 2025;58(10):1073-1079
Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.
9.Application of divisional design in composite labia minora and clitoral hood reduction
Kang YIN ; Guoping WU ; Xiangxu LI ; Yuming QU ; Kaili YAN ; Liping ZHAO
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(5):502-506
Objective:To investigate the clinical effect of the divisional design in composite labia minora and clitoral hood reduction.Methods:A retrospective analysis was performed on 57 patients diagnosed with labia minora and clitoral hood hypertrophy at Department of Plastic Surgery, Nanjing Medical University Friendship Plastic Surgery Hospital between July 2018 and May 2021. The ages of the patients ranged from 24 to 45 years with an average of (31.0±8.2) years. Preoperative symptoms and surgical demands included: appearance concerns in 57 cases (100%), irritation during friction in 49 cases (86.0%), and discomfort during intercourse in 22 cases (38.6%). The complex hypertrophy was divided into simple labia minora hypertrophy and clitoral hood hypertrophy. Then the reduction of clitoris hood was performed according to the prepuce morphology, and labiaplasty was performed using edge resection. The operative effects, patient satisfaction, and postoperative complications were assessed.Results:All incisions healed primarily with no flap necrosis or marginal infections. Hematoma occurred in 1 case which recovered well after timely treatment. All patients were followed up for 3-12 months. 54 cases were satisfied with the labia minora and clitoral hood shape and reported no sensory abnormality. Bilateral asymmetry occurred in 2 cases, one of which required further surgical repair. Scar hyperplasia occurred and was gradually softened after 6 months in 1 case. Of the 57 patients with appearance concerns, 55 (96.5%) patients reported improved appearance postoperatively. Of the 49 patients with preoperative friction discomfort, 47 (95.9%) patients achieved symptom relief. Of the 22 patients reporting sexual discomfort, 15 (68.1%) patients noted enhanced sexual satisfaction postoperatively. Overall, 54 (94.7%) patients were satisfied, 2 (3.5%) patients were moderately satisfied, and 1 (1.8%) patient was unsatisfied.Conclusions:For patients with labia minora and clitoral hood hypertrophy, the application of divisional design is surgically simple and safe. It achieves satisfactory outcomes with no severe adverse reactions.
10.Relationship between the expressions of long noncoding RNA HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues and prognosis
Longchao QIN ; Qian ZHAO ; Xueyan REN ; Kaili SUN ; Jiaojiao REN ; Lina PENG ; Haiping HAN
Journal of Chinese Physician 2025;27(7):994-998
Objective:To explore the expressions of long noncoding RNA (lncRNA) homeobox A11 antisense RNA (HOXA11-AS) and lymphoid enhancer-binding factor 1 antisense RNA 1 (LEF1-AS1) in hypopharyngeal carcinoma tissues and their relationships with prognosis.Methods:Prospectively, 80 patients with hypopharyngeal carcinoma who were treated in Handan Central Hospital from February 2019 to February 2021 were selected. The hypopharyngeal carcinoma tissues resected surgically and the adjacent normal tissues (more than 2 cm away from the edge of the cancer tissue) were obtained. The expressions of HOXA11-AS and LEF1-AS1 were detected by real-time fluorescence quantitative polymerase chain reaction (RT-qPCR). The expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues and adjacent normal tissues were compared. The relationships between their expressions and clinicopathological features were analyzed. The Kaplan-Meier method was used to analyze the relationships between high/low expressions of HOXA11-AS and LEF1-AS1 and the prognosis of patients with hypopharyngeal carcinoma.Results:The expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues were higher than those in adjacent normal tissues (all P<0.05). The expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues were related to tumor node metastasis (TNM) stage, degree of differentiation, and lymph node metastasis (all P<0.05). The 3-year overall survival rates of patients with high expressions of HOXA11-AS and LEF1-AS1 in hypopharyngeal carcinoma tissues were lower than those of patients with low expressions (all P<0.05). Conclusions:The expressions of HOXA11-AS and LEF1-AS1 are increased in hypopharyngeal carcinoma tissues, which are related to poor prognosis of patients with hypopharyngeal carcinoma.

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