1.Research progress on binge eating disorder's neuropsychological mechanism
Yikun LIANG ; Shuya YAN ; Meiqi ZHANG ; Dongxue WEI ; Yanbin JIA
Chinese Journal of Nervous and Mental Diseases 2025;51(4):252-256
Binge eating disorder(BED)is a common eating disorder whose pathogenesis involves both neurobiological and psychological mechanisms.At the neurobiological level,the development of BED is associated with abnormal resting-state brain functional connectivity in the reward circuitry,dysregulation of the endocannabinoid system,and elevated leptin levels.This paper reveals that the neurobiological mechanisms of BED may influence psychological processes,including habitual behavioral imbalances and impaired emotion regulation.Conversely,the dysfunction of behavior in the psychological domain may further modulate neurobiological manifestations.This finding provides insights for future research aimed at systematically integrating neural mechanisms into clinical interventions,ultimately facilitating treatment advancement and prognostic improvement.
2.The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia
Bairu LAI ; Yiyuan GE ; Xiaomin MA ; Guangkuan ZENG ; Xiaohua YU ; Jianlian LIANG ; Yanbin CAO ; Liye YANG
Chinese Journal of Medical Genetics 2025;42(1):51-55
Objective:To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.Methods:A retrospective study was conducted on 7 patients diagnosed by Yangjiang People′s Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People′s Hospital of Yangjiang (Ethics No: 20240001).Results:For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A 2, whilst another had significantly decreased Hb A and Hb A 2, in addition with the appearance of a Hb H band. The content of Hb Bart′s in four neonates was ≥0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c. 2delT, HBA2: c. 1A>G, HBA2: c. 1A>T, and HBA1: c. 2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c. 427T>C (Hb CS) and HBA2: c. 2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c. 1A>G and Southeast Asian type deletion. Conclusion:Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c. 1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
3.The clinical features and advances in psychological treatments of trichotillomania in children and adolescents
Dongxue WEI ; Jianzhao ZHANG ; Meiqi ZHANG ; Yikun LIANG ; Yanbin JIA
Chinese Journal of Psychiatry 2025;58(1):75-80
Trichotillomania, also known as Hair Pulling Disorder, is a unique obsessive-compulsive spectrum disorder characterized by repeated removal of hair from various parts of the body. Patients attempt to control this behavior but often fail, causing impairment to important functional areas such as social interaction, work, and academics. Trichotillomania typically begins in childhood or adolescence, and is often comorbid with anxiety and depression. The resulting physical damage and changes in appearance further exacerbate the social functional impairment of patients, resulting in most patients being diagnosed only in adulthood, and missing the optimal intervention period. Current pharmacological treatments for Trichotillomania are not satisfactory, while various psychological therapies have shown potential value and prospects. Therefore, this article focuses on Trichotillomania in children and adolescents, providing a comprehensive review from multiple aspects including disease diagnosis, clinical characteristics and typing, functional impairment, neuroimaging mechanisms, and the latest developments in psychological therapy, to provide references for the clinical diagnosis, assessment, and effective intervention of Trichotillomania.
4.The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia.
Bairu LAI ; Yiyuan GE ; Xiaomin MA ; Guangkuan ZENG ; Xiaohua YU ; Jianlian LIANG ; Yanbin CAO ; Liye YANG
Chinese Journal of Medical Genetics 2025;42(1):51-55
OBJECTIVE:
To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.
METHODS:
A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People's Hospital of Yangjiang (Ethics No: 20240001).
RESULTS:
For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A2, whilst another had significantly decreased Hb A and Hb A2, in addition with the appearance of a Hb H band. The content of Hb Bart's in four neonates was ≥ 0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c.2delT, HBA2: c.1A>G, HBA2: c.1A>T, and HBA1: c.2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c.427T>C (Hb CS) and HBA2: c.2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c.1A>G and Southeast Asian type deletion.
CONCLUSION
Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c.1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
Humans
;
Phenotype
;
Codon, Initiator/genetics*
;
Female
;
Male
;
Retrospective Studies
;
alpha-Globins/genetics*
;
alpha-Thalassemia/genetics*
;
Hemoglobin A/genetics*
;
Adult
;
Mutation
5.The neural and psychological mechanisms of alexithymia in adolescent non-suicidal self-injury
Meiqi ZHANG ; Shuya YAN ; Dongxue WEI ; Yikun LIANG ; Shunkai LAI ; Yanbin JIA
Chinese Journal of Psychiatry 2025;58(4):297-302
Alexithymia refers to a deficiency of emotional structure, but the neurologic and psychological mechanisms of non-suicidal self-injury (NSSI) in adolescents are still unclear. The neural basis of alexithymia may play a role in adolescents′ NSSI by affecting the function of emotion regulation and emotion expression. At the same time, NSSI is also considered to be a non-adaptive emotional regulation mode for alexithymia individuals, which interacts with personality factors and psychosocial factors. This study explored the neuropsychological mechanism of alexithymia in adolescent NSSI from the perspective of emotional function, and provided theoretical basis for early identification and precise intervention of alexithymia and adolescent NSSI.
6.Research progress on binge eating disorder's neuropsychological mechanism
Yikun LIANG ; Shuya YAN ; Meiqi ZHANG ; Dongxue WEI ; Yanbin JIA
Chinese Journal of Nervous and Mental Diseases 2025;51(4):252-256
Binge eating disorder(BED)is a common eating disorder whose pathogenesis involves both neurobiological and psychological mechanisms.At the neurobiological level,the development of BED is associated with abnormal resting-state brain functional connectivity in the reward circuitry,dysregulation of the endocannabinoid system,and elevated leptin levels.This paper reveals that the neurobiological mechanisms of BED may influence psychological processes,including habitual behavioral imbalances and impaired emotion regulation.Conversely,the dysfunction of behavior in the psychological domain may further modulate neurobiological manifestations.This finding provides insights for future research aimed at systematically integrating neural mechanisms into clinical interventions,ultimately facilitating treatment advancement and prognostic improvement.
7.ABMIL-BiGRU:bidirectional gated recurrent unit attention based multi-instance learning for interpretable prediction of sentinel lymph node metastasis in breast cancer
Bo LI ; Yanbin YANG ; Shuai LI ; Meiyan LIANG
Chinese Journal of Medical Physics 2025;42(2):175-183
Aiming at the classification and lesion localization of giga-pixel pathology whole slide images of breast cancer,a bidirectional gated recurrent unit attention based multi-instance learning(ABMIL-BiGRU)model is proposed for interpretable prediction of H&E stained breast cancer lymph node metastasis images.The method uses two orthogonal bidirectional gated recurrent units to establish the long-short distance dependencies between the features in the row and column directions of the image block,thereby embedding the spatial position and context information of the image block,and then quantifies the attention score of each feature representation through attention multi-instance pooling,thereby achieving whole slide image-level feature aggregation and generating interpretable heat maps.The results show that ABMIL-BiGRU model has an average accuracy of 0.918 6 and an AUCof 0.9467 on the breast cancer metastasis dataset,realizing high-precision prediction of whole slide images and localization of regions of interest,and also providing human-interpretable features at the image block level.The proposed model solves the"accuracy-interpretability trade-off"problem to a certain extent,and its superior performance provides a new paradigm for the clinical application of computer-aided diagnosis and intelligent systems.
8.ABMIL-BiGRU:bidirectional gated recurrent unit attention based multi-instance learning for interpretable prediction of sentinel lymph node metastasis in breast cancer
Bo LI ; Yanbin YANG ; Shuai LI ; Meiyan LIANG
Chinese Journal of Medical Physics 2025;42(2):175-183
Aiming at the classification and lesion localization of giga-pixel pathology whole slide images of breast cancer,a bidirectional gated recurrent unit attention based multi-instance learning(ABMIL-BiGRU)model is proposed for interpretable prediction of H&E stained breast cancer lymph node metastasis images.The method uses two orthogonal bidirectional gated recurrent units to establish the long-short distance dependencies between the features in the row and column directions of the image block,thereby embedding the spatial position and context information of the image block,and then quantifies the attention score of each feature representation through attention multi-instance pooling,thereby achieving whole slide image-level feature aggregation and generating interpretable heat maps.The results show that ABMIL-BiGRU model has an average accuracy of 0.918 6 and an AUCof 0.9467 on the breast cancer metastasis dataset,realizing high-precision prediction of whole slide images and localization of regions of interest,and also providing human-interpretable features at the image block level.The proposed model solves the"accuracy-interpretability trade-off"problem to a certain extent,and its superior performance provides a new paradigm for the clinical application of computer-aided diagnosis and intelligent systems.
9.The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia
Bairu LAI ; Yiyuan GE ; Xiaomin MA ; Guangkuan ZENG ; Xiaohua YU ; Jianlian LIANG ; Yanbin CAO ; Liye YANG
Chinese Journal of Medical Genetics 2025;42(1):51-55
Objective:To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.Methods:A retrospective study was conducted on 7 patients diagnosed by Yangjiang People′s Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People′s Hospital of Yangjiang (Ethics No: 20240001).Results:For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A 2, whilst another had significantly decreased Hb A and Hb A 2, in addition with the appearance of a Hb H band. The content of Hb Bart′s in four neonates was ≥0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c. 2delT, HBA2: c. 1A>G, HBA2: c. 1A>T, and HBA1: c. 2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c. 427T>C (Hb CS) and HBA2: c. 2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c. 1A>G and Southeast Asian type deletion. Conclusion:Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c. 1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
10.The clinical features and advances in psychological treatments of trichotillomania in children and adolescents
Dongxue WEI ; Jianzhao ZHANG ; Meiqi ZHANG ; Yikun LIANG ; Yanbin JIA
Chinese Journal of Psychiatry 2025;58(1):75-80
Trichotillomania, also known as Hair Pulling Disorder, is a unique obsessive-compulsive spectrum disorder characterized by repeated removal of hair from various parts of the body. Patients attempt to control this behavior but often fail, causing impairment to important functional areas such as social interaction, work, and academics. Trichotillomania typically begins in childhood or adolescence, and is often comorbid with anxiety and depression. The resulting physical damage and changes in appearance further exacerbate the social functional impairment of patients, resulting in most patients being diagnosed only in adulthood, and missing the optimal intervention period. Current pharmacological treatments for Trichotillomania are not satisfactory, while various psychological therapies have shown potential value and prospects. Therefore, this article focuses on Trichotillomania in children and adolescents, providing a comprehensive review from multiple aspects including disease diagnosis, clinical characteristics and typing, functional impairment, neuroimaging mechanisms, and the latest developments in psychological therapy, to provide references for the clinical diagnosis, assessment, and effective intervention of Trichotillomania.

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