In 2022,there were approximately 1.06 million new cases and 733 000 deaths from lung cancer,with a 5-year survival rate of approximately 20％for advanced lung cancer.In recent years,the identification of immune checkpoint molecules such as PD-1,PD-L1,and CTLA-4 has led to significant advancements in immunotherapy strate-gies for advanced lung cancer,particularly in the development and application of predictive biomarkers.These new ap-proaches have improved the efficacy of traditional modalities such as surgery,chemotherapy,and radiotherapy.Howev-er,the evaluation and selection of patients likely to benefit from targeted biomarkers remain partially subjective.This review summarized how artificial intelligence(AI)can assist in improving the accuracy of biomarker identification and the effectiveness of immunotherapy for lung cancer.This review discussed the current treatment status of lung cancer,the application of AI in biomarker identification,and the prediction and evaluation of immunotherapy outcomes,aiming to provide valuable guidance and reference for clinicians.

Objective:To explore the genetic characteristics and pathogenesis for a child with mosaicism trisomy 21 and Congenital leukemia (CL).Methods:A child who was admitted to Ningbo Women and Children′s Hospital in March 2023 was selected as the study subject. A retrospective analysis was carried out on the clinical data, laboratory test results, immunophenotyping, and genetic characteristics of the child. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: EC2024-063).Results:Whole genome sequencing (WGS) revealed that the child has mosaicism trisomy of chromosome 21, with a ratio of approximately 74%. In addition, pathogenic copy number variations involving multiple OMIM genes that could explain his clinical phenotype were detected and rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). No pathogenic variant was detected with the GATA1 gene. Blood immune typing of the child conformed to the immunophenotype of acute myeloid leukemia. Conclusion:For children with trisomy 21, even in the absence of GATA1 gene variants, the occurrence of CL should be monitored, and early diagnosis and treatment are of great significance for improving the prognosis.

In recent years, the roles of mitochondrial RNA and its associated human diseases have been reported to increase significantly. Treatments based on mtRNA metabolic processes and nuclear gene mutations are thus discussed. The mitochondrial oxidative phosphorylation process is affected by mtRNA metabolism, including mtRNA production, maturation, stabilization, and degradation, which leads to a variety of inherited human mitochondrial diseases. Moreover, mitochondrial diseases are caused by mitochondrial messenger RNA, mitochondrial transfer RNA, and mitochondrial ribosomal RNA gene mutations. This review presents the molecular mechanisms of human mtRNA metabolism and pathological mutations in mtRNA metabolism-related nuclear-encoded/nonencoded genes and mitochondrial DNA mutations to highlight the importance of mitochondrial RNA-related diseases and treatments.
Humans ; Mitochondrial Diseases/therapy* ; RNA, Mitochondrial ; RNA/genetics* ; Mitochondria/genetics* ; Mutation/genetics* ; RNA, Transfer/genetics* ; DNA, Mitochondrial/genetics*

OBJECTIVE: To explore the genetic characteristics and pathogenesis for a child with mosaicism trisomy 21 and Congenital leukemia (CL). METHODS: A child who was admitted to Ningbo Women and Children's Hospital in March 2023 was selected as the study subject. A retrospective analysis was carried out on the clinical data, laboratory test results, immunophenotyping, and genetic characteristics of the child. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: EC2024-063). RESULTS: Whole genome sequencing (WGS) revealed that the child has mosaicism trisomy of chromosome 21, with a ratio of approximately 74%. In addition, copy number variations involving multiple OMIM genes that could explain his clinical phenotype were detected and rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). No pathogenic variant was detected with the GATA1 gene. Blood immune typing of the child conformed to the immunophenotype of acute myeloid leukemia. CONCLUSION For children with trisomy 21, even in the absence of GATA1 gene variants, the occurrence of CL should be monitored, and early diagnosis and treatment are of great significance for improving the prognosis.
Child, Preschool ; Humans ; DNA Copy Number Variations/genetics* ; Down Syndrome/genetics* ; GATA1 Transcription Factor/genetics* ; Leukemia/congenital* ; Mosaicism ; Mutation ; Retrospective Studies ; Whole Genome Sequencing

In 2022,there were approximately 1.06 million new cases and 733 000 deaths from lung cancer,with a 5-year survival rate of approximately 20％for advanced lung cancer.In recent years,the identification of immune checkpoint molecules such as PD-1,PD-L1,and CTLA-4 has led to significant advancements in immunotherapy strate-gies for advanced lung cancer,particularly in the development and application of predictive biomarkers.These new ap-proaches have improved the efficacy of traditional modalities such as surgery,chemotherapy,and radiotherapy.Howev-er,the evaluation and selection of patients likely to benefit from targeted biomarkers remain partially subjective.This review summarized how artificial intelligence(AI)can assist in improving the accuracy of biomarker identification and the effectiveness of immunotherapy for lung cancer.This review discussed the current treatment status of lung cancer,the application of AI in biomarker identification,and the prediction and evaluation of immunotherapy outcomes,aiming to provide valuable guidance and reference for clinicians.

Objective:To explore the genetic characteristics and pathogenesis for a child with mosaicism trisomy 21 and Congenital leukemia (CL).Methods:A child who was admitted to Ningbo Women and Children′s Hospital in March 2023 was selected as the study subject. A retrospective analysis was carried out on the clinical data, laboratory test results, immunophenotyping, and genetic characteristics of the child. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: EC2024-063).Results:Whole genome sequencing (WGS) revealed that the child has mosaicism trisomy of chromosome 21, with a ratio of approximately 74%. In addition, pathogenic copy number variations involving multiple OMIM genes that could explain his clinical phenotype were detected and rated as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). No pathogenic variant was detected with the GATA1 gene. Blood immune typing of the child conformed to the immunophenotype of acute myeloid leukemia. Conclusion:For children with trisomy 21, even in the absence of GATA1 gene variants, the occurrence of CL should be monitored, and early diagnosis and treatment are of great significance for improving the prognosis.

Klebsiella pneumoniae(K.pneumoniae)is an important pathogen that can cause severe hospital-and community-acquired infections.To systematically investigate its methylation features,we determined the whole-genome sequences of 14 K.pneumoniae strains covering varying serotypes,multilocus sequence types,clonal groups,viscosity/virulence,and drug resistance.Their methy-lomes were further characterized using Pacific Biosciences single-molecule real-time and bisulfite technologies.We identified 15 methylation motifs[13 N6-methyladenine(6mA)and two 5-methylcytosine(5mC)motifs],among which eight were novel.Their corresponding DNA methyl-transferases were also validated.Additionally,we analyzed the genomic distribution of GATC and CCWGG methylation motifs shared by all strains,and identified differential distribution pat-terns of some hemi-/un-methylated GATC motifs,which tend to be located within intergenic regions(IGRs).Specifically,we characterized the in vivo methylation kinetics at single-base resolu-tion on a genome-wide scale by simulating the dynamic processes of replication-mediated passive demethylation and MTase-catalyzed re-methylation.The slow methylation of the GATC motifs in the replication origin(oriC)regions and IGRs implicates the epigenetic regulation of replication initiation and transcription.Our findings illustrate the first comprehensive dynamic methylome map of K.pneumoniae at single-base resolution,and provide a useful reference to better understand epigenetic regulation in this and other bacterial species.

Objective    To evaluate the changes of left ventricular structure and function by echocardiography and its grading of left ventricular diastolic function in patients with mitral valve prolapse treated by minimally invasive mitral valve repair. Methods    By retrospective analysis, 37 patients including 25 males and 12 females aged 53.49±11.02 years with mitral valve prolapse who underwent minimally invasive mitral valve repair were as an operation group, and 34 healthy persons including 19 males and 15 females aged 54.26±8.33 years matched by age and sex were selected as a control group. Ultrasound parameters of every participant were routinely collected before operation, 1 month, 3 months, 6 months and 1 year after operation, and left ventricular diastolic function was graded. The ultrasound parameters between the two groups were compared. Results    The diameters of left ventricular end systolic and diastolic phase, left atrial diameter and left ventricular volume in the operation group were significantly smaller than those before operation. The diameters of left ventricle and left atrium after operation were significantly shorter than those before operation, but they were still larger than those of the control group. The ejection fraction value decreased significantly at one month after the operation and then returned to normal level. The incidence of left ventricular diastolic dysfunction at 6 months and 1 year after operation was significantly lower than that before operation (P<0.05). Conclusion    Minimally invasive repair for patients with mitral valve prolapse can significantly improve systolic and diastolic functions of left ventricle while reconstructing left atrial and left ventricular structures.