The International System for Human Cytogenomic Nomenclature (ISCN) is a standardized international nomenclature system established by the International Standing Committee on Human Cytogenomic Nomenclature (ISCN SC). It is designed for describing chromosomal or genomic abnormalities detected by commonly used genetic and genomic techniques including but not limited to karyotyping, fluorescence in situ hybridization, microarray, genome mapping, various region-specific assays, and high-throughput sequencing. With a history spanning over six decades, the ISCN was revised by the ISCN SC in 2024 and officially published in September 2024. This article provides a summary for the updates introduced in the 2024 edition of the International System for Human Cytogenomic Nomenclature.
Humans ; Terminology as Topic ; Genomics ; Genome, Human/genetics*

ObjectiveTo investigate the role of paraventricular nucleus (PVN) corticotropin releasing hormone (CRH) neurons in chronic restraint stress (CRS)-induced anxiety-like behavior. And whether exercise relieves chronic restraint stress-induced anxiety through PVN CRH neurons. MethodsTwenty 8-week-old male C57BL/6J mice were randomly divided into control (Ctrl) group and chronic restraint stress (CRS) group. The open field test (OFT) and elevated plus maze (EPM) were used to evaluate anxiety-like behavior of the mice. Food intake was recorded after CRS. Immunofluorescence staining was used to label the expression of c-Fos expression in PVN and calculate the co-expression of c-Fos and CRH neurons. We used chemogenetic activation of PVN CRH neurons to observed the anxiety-like behavior. 8-week treadmill training (10-16 m/min, 60 min/d, 6 d/week) were used to explore the role of exercise in ameliorating CRS-induced anxiety behavior and how PVN CRH neurons involved in it. ResultsCompared with Ctrl group, CRS group exhibited significant anxiety-like behavior. In OFT, the mice in CRS groups spent less time in center area (P<0.001). In EPM, the time in open arm in CRS group were significantly decreased (P<0.001). Besides, food intake was also suppressed in CRS group compared with Ctrl group (P<0.05). Compared with Ctrl group, CRS significantly increase c-Fos expression in PVN and most of CRH neurons co-express c-Fos (P<0.001). Chemogenetic activation of PVN CRH neurons induced anxiety-like behavior (P<0.05) and inhibited feeding behavior (P<0.01). Exercise relieves chronic restraint stress-induced anxiety (P<0.001) and relieved the anorexia caused by chronic restraint stress (P<0.05). Aerobic exercise inhibited the CRS labeled c-Fos in PVN CRH neurons (P<0.001). Furthermore, ablation of PVN CRH neurons attenuated CRS induced anxiety-like behavior. ConclusionCRS activated PVN CRH neurons, induced anxiety-like behavior and reduced food intake. 8-week exercise attenuated CRS-induced anxiety-like behavior through inhibiting PVN CRH neuron. Ablation of CRH PVN neurons ameliorated CRS-induced anxiety-like behavior. These finding reveals a potential neural mechanism of exercise-relieving CRS-induced anxiety-like behavior. This provides a new idea and theoretical basis for the treatment of anxiety and related mental disorders.

Objective:To develop and validate a predictive model for massive hemorrhage during brain tumor resection in pediatric patients.Methods:A retrospective analysis was performed on the clinical data from pediatric patients who underwent elective brain tumor resection under general anesthesia at the Women and Children′s Medical Center Affiliated to Guangzhou Medical University from December 2016 to October 2023. The patients were randomly divided into model group and internal validation group in a ratio of 8∶2. Pediatric patients who underwent elective brain tumor resection under general anesthesia at Qilu Hospital of Shandong University from January 2021 to July 2024 were selected and served as external validation group. Relevant characteristic variables were screened through Lasso regression. A multivariate logistic regression was used to develop the model and plot the nomogram for intraoperative massive hemorrhage. The performance of the model was evaluated using the area under the receiver operating characteristic curve and calibration curve.Results:Through Lasso regression and multivariate logistic regression analyses, 11 independent influencing factors were identified: age ( OR=0.323, 95% confidence interval [ CI]: 0.280-0.374, P<0.001), weight ( OR=0.164, 95% CI: 0.135-0.199, P<0.001), activated partial thromboplastin time ( OR=1.133, 95% CI: 1.036-1.239, P=0.006), thrombin time ( OR=1.141, 95% CI: 1.048-1.243, P=0.002), red blood cell count ( OR=0.941, 95% CI: 0.888-0.996, P=0.035), hemoglobin concentration ( OR=0.873, 95% CI: 0.822-0.926, P<0.001), platelet count ( OR=1.062, 95% CI: 1.001-1.127, P=0.048), maximum tumor diameter ( OR=2.384, 95% CI: 2.241-2.536, P<0.001), tumor invasiveness ( OR=2.376, 95% CI: 2.071-2.726, P<0.001), hydrocephalus ( OR=2.409, 95% CI: 2.139-2.713, P<0.001), and centered midline structure ( OR=0.509, 95% CI: 0.465-0.557, P<0.001). Based on this, a nomogram prediction model was established. The receiver operating characteristic curve showed that the area under the curve of this model in predicting the risk of massive hemorrhage during brain tumor resection was 0.936 (95% CI: 0.90-0.959) in model group, 0.863 (95% CI: 0.744-0.948) in internal validation group, and 0.855 (95% CI: 0.726-0.955) in external validation group. The calibration curve indicated good model consistency, and the Hosmer-Lemeshow goodness-of-fit test result showed a P value of 0.979 ( P>0.05). Conclusions:Age, body weight, activated partial thromboplastin time, thrombin time, red blood cell count, hemoglobin concentration, platelet count, maximum tumor diameter, tumor invasiveness, hydrocephalus and midline structure are independent influencing factors for major bleeding during brain tumor resection in pediatric patients, and the prediction model established based on this histogram has high accuracy.

Objective: To investigate the survival rate of female breast cancer patients in Panyu District, Guangzhou City, so as to provide the basis for improving the prognosis of breast cancer patients. Methods: Basic information including age, clinical stage and surgical treatment of female breast cancer patients registered in Panyu District and diagnosed in 2017 were collected through the Guangzhou Municipal Cancer Registration and Reporting Management System, and were followed up until December 31, 2022. The survival rate was calculated using the life table. Factors affecting survival time among female breast cancer patients were analyzed using a multivariable Cox proportional hazard regression model. Results: A total of 227 female breast cancer patients were reported in Panyu District in 2017, and had a median age of 51 (interquartile range, 17) years. There were 43 cases (18.94%) in stage Ⅰ, 55 cases (24.23%) in stage Ⅱ, 63 cases (27.75%) in stage Ⅲ, 27 cases (11.89%) in stage Ⅳ, and 39 cases (17.18%) with unknown staging. Surgical treatment was performed in 204 cases (89.87%), and chemotherapy was administered in 73 cases (32.16%). By December 31, 2022, there were 40 deaths and 14 patients lost to follow-up. The one-year, three-year and five-year survival rates were 96.44%, 87.45% and 82.87%, respectively. Multivariable Cox proportional hazard regression analysis showed that older age (HR=1.023, 95%CI: 1.002-1.046), clinical stage Ⅲ (HR=10.050, 95%CI: 1.324-76.270) or IV (HR=42.663, 95%CI: 5.588-325.742) were associated with a higher risk of mortality in female breast cancer patients, while surgical treatment (HR=0.278, 95%CI: 0.130-0.598) was associated with a lower risk of mortality. Conclusions The five-year survival rate of female breast cancer patients in Panyu District was 82.87%. Age, clinical stage and surgical treatment were the main influencing factors for the survival time of female breast cancer patients.

The International System for Human Cytogenomic Nomenclature (ISCN) is a standardized international nomenclature system established by the International Standing Committee on Human Cytogenomic Nomenclature (ISCN SC). It is designed for describing chromosomal or genomic abnormalities detected by commonly used genetic and genomic techniques including but not limited to karyotyping, fluorescence in situ hybridization, microarray, genome mapping, various region-specific assays, and high-throughput sequencing. With a history spanning over six decades, the ISCN was revised by the ISCN SC in 2024 and officially published in September 2024. This article provides a summary for the updates introduced in the 2024 edition of the International System for Human Cytogenomic Nomenclature.

Objective:To develop and validate a predictive model for massive hemorrhage during brain tumor resection in pediatric patients.Methods:A retrospective analysis was performed on the clinical data from pediatric patients who underwent elective brain tumor resection under general anesthesia at the Women and Children′s Medical Center Affiliated to Guangzhou Medical University from December 2016 to October 2023. The patients were randomly divided into model group and internal validation group in a ratio of 8∶2. Pediatric patients who underwent elective brain tumor resection under general anesthesia at Qilu Hospital of Shandong University from January 2021 to July 2024 were selected and served as external validation group. Relevant characteristic variables were screened through Lasso regression. A multivariate logistic regression was used to develop the model and plot the nomogram for intraoperative massive hemorrhage. The performance of the model was evaluated using the area under the receiver operating characteristic curve and calibration curve.Results:Through Lasso regression and multivariate logistic regression analyses, 11 independent influencing factors were identified: age ( OR=0.323, 95% confidence interval [ CI]: 0.280-0.374, P<0.001), weight ( OR=0.164, 95% CI: 0.135-0.199, P<0.001), activated partial thromboplastin time ( OR=1.133, 95% CI: 1.036-1.239, P=0.006), thrombin time ( OR=1.141, 95% CI: 1.048-1.243, P=0.002), red blood cell count ( OR=0.941, 95% CI: 0.888-0.996, P=0.035), hemoglobin concentration ( OR=0.873, 95% CI: 0.822-0.926, P<0.001), platelet count ( OR=1.062, 95% CI: 1.001-1.127, P=0.048), maximum tumor diameter ( OR=2.384, 95% CI: 2.241-2.536, P<0.001), tumor invasiveness ( OR=2.376, 95% CI: 2.071-2.726, P<0.001), hydrocephalus ( OR=2.409, 95% CI: 2.139-2.713, P<0.001), and centered midline structure ( OR=0.509, 95% CI: 0.465-0.557, P<0.001). Based on this, a nomogram prediction model was established. The receiver operating characteristic curve showed that the area under the curve of this model in predicting the risk of massive hemorrhage during brain tumor resection was 0.936 (95% CI: 0.90-0.959) in model group, 0.863 (95% CI: 0.744-0.948) in internal validation group, and 0.855 (95% CI: 0.726-0.955) in external validation group. The calibration curve indicated good model consistency, and the Hosmer-Lemeshow goodness-of-fit test result showed a P value of 0.979 ( P>0.05). Conclusions:Age, body weight, activated partial thromboplastin time, thrombin time, red blood cell count, hemoglobin concentration, platelet count, maximum tumor diameter, tumor invasiveness, hydrocephalus and midline structure are independent influencing factors for major bleeding during brain tumor resection in pediatric patients, and the prediction model established based on this histogram has high accuracy.

The International System for Human Cytogenomic Nomenclature (ISCN) is a standardized international nomenclature system established by the International Standing Committee on Human Cytogenomic Nomenclature (ISCN SC). It is designed for describing chromosomal or genomic abnormalities detected by commonly used genetic and genomic techniques including but not limited to karyotyping, fluorescence in situ hybridization, microarray, genome mapping, various region-specific assays, and high-throughput sequencing. With a history spanning over six decades, the ISCN was revised by the ISCN SC in 2024 and officially published in September 2024. This article provides a summary for the updates introduced in the 2024 edition of the International System for Human Cytogenomic Nomenclature.

DNA genetic markers have always played important roles in individual identification, kinship analysis, ancestry inference and phenotype characterization in the field of forensic medicine. DNA methylation has unique advantages in biological age inference, body fluid identification and prediction of phenotypes. The majority of current studies independently examine DNA and DNA methylation markers using various workflows, and they use various analytical procedures to interpret the biological information these two markers present. Integrated methods detect DNA and DNA methylation markers simultaneously through a single experimental workflow using the same preparation of sample. Therefore, they can effectively reduce consumption of time and cost, streamline experimental procedures, and preserve valuable DNA samples taken from crime scenes. In this paper, the integrated detection approaches of DNA and DNA methylation markers on different detection platforms were reviewed. In order to convert methylation modifications to detectable forms, several options were available for pretreatment of genomic DNA, including digestion with methylation-sensitive restriction enzyme, affinity enrichment of methylated fragments, conversion of methylated or unmethylated cytosine. Multiplexed primers can be designed for DNA markers and converted DNA methylation markers for co-amplification. The schemes of using capillary electrophoresis platform for integrated detection add the pretreatment of genomic DNA on the basis of detecting DNA genetic markers. DNA and DNA methylation markers are then integrated by co-amplification. But the limited number of fluorescent options available and the length of amplicons restrict the type and quantity of markers that can be integrated into a panel. Pyrophosphate sequencing also supports integrated detection of DNA and DNA methylation markers. On this platform, due to the conversion of unmethylated cytosine to thymine after treatment with bisulfite, the methylation level of CpG site can be directly calculated using the peak height ratio of cytosine bases and thymine bases. Therefore, the methylation levels and SNP typing can be simultaneously obtained. However, due to the limited read length of sequencing, the detection of markers with longer amplicons is restricted. It is not conducive to fully interpret the complete information of the target sequence. Next-generation sequencing also supports integrated detection of DNA and DNA methylation markers. A preliminary experimental process including DNA extraction, pretreatment of genomic DNA, co-preparation of DNA and DNA methylation library and co-sequencing, has been formed based on the next-generation sequencing platform. It confirmed the feasibility of next-generation sequencing technology for integrated detection of DNA and DNA methylation markers. In field of biomedicine, various integrated detection schemes and corresponding data analysis approaches of DNA and DNA genetic markers developed based on the above detection process.Co-analysis can simultaneously obtain the genomic genetic and epigenetic information through a single analytic process. These schemes suggest that next-generation sequencing may be an effective method for achieving more accurate and highly integrated detection, helping to explore the potential for application in forensic biological samples. We finally explore the impact of interactions between sites and different pretreatment methods on the integrated detection of DNA and DNA methylation markers, and also propose the challenge of applying third-generation sequencing for integrated detection in forensic samples.

Attention deficit hyperactivity disorder is a common neurodevelopmental disorder characterized by persistent attention deficit, hyperactivity, and impulsive behaviors that are not consistent with developmental age.Academic and vocational difficulties, social exclusion, and delinquent behaviors are manifested in daily life.It is also commonly accompanied by psychiatric problems.At the same time, mental problems are common, and the overall quality of life is greatly affected, placing a heavy burden on society as well as the family.International attention deficit hyperactivity disorder experts have developed a common and comprehensive International Classification of Functioning, Disability and Health core set of classifications for assessing individual functioning in attention deficit hyperactivity disorder.

Objective:To investigate the molecular mechanisms of chronic rhinosinusitis (CRS), to identify key cell subgroups and genes, to construct effective diagnostic models, and to screen for potential therapeutic drugs.Methods:Key cell subgroups in CRS were identified through single-cell transcriptomic sequencing data. Essential genes associated with CRS were selected and diagnostic models were constructed by hdWGCNA (high dimensional weighted gene co-expression network analysis) and various machine learning algorithms. Causal inference analysis was performed using Mendelian randomization and colocalization analysis. Potential therapeutic drugs were identified using molecular docking technology, and the results of bioinformatics analysis were validated by immunofluorescence staining. Graphpad Prism, R, Python, and Adobe Illustrator software were used for data and image processing.Results:An increased proportion of basal and suprabasal cells was observed in CRS, especially in eosinophilic CRS with nasal polyps (ECRSwNP), with P=0.001. hdWGCNA revealed that the "yellow module" was closely related to basal and suprabasal cells in CRS. Univariate logistic regression and LASSO algorithm selected 13 key genes ( CTSC, LAMB3, CYP2S1, TRPV4, ARHGAP21, PTHLH, CDH26, MRPS6, TENM4, FAM110C, NCKAP5, SAMD3, and PTCHD4). Based on these 13 genes, an effective CRS diagnostic model was developed using various machine learning algorithms (AUC=0.958). Mendelian randomization analysis indicated a causal relationship between CTSC and CRS (inverse variance weighted: OR=1.06, P=0.006), and colocalization analysis confirmed shared genetic variants between CTSC and CRS (PPH4/PPH3>2). Molecular docking results showed that acetaminophen binded well with CTSC (binding energy:-5.638 kcal/mol). Immunofluorescence staining experiments indicated an increase in CTSC +cells in CRS. Conclusion:This study integrates various bioinformatics methods to identify key cell types and genes in CRS, constructs an effective diagnostic model, underscores the critical role of the CTSC gene in CRS pathogenesis, and provides new targets for the treatment of CRS.