Myelodysplastic syndrome (MDS) is a chronic hematologic disorder characterized by ineffective hematopoiesis, dysplasia of one or more cell lines with or without definite genetic changes. Its diagnosis requires a comprehensive analysis combining morphology, immunology, cytogenetics, and molecular biology findings. In recent years, the development of second-generation sequencing (NGS) has provided great assistance in exploring the molecular pathogenesis of hematological malignancies and guidance for clinical practice. Mutations of a series of gene involved in RNA splicing, DNA methylation, transcriptional regulation, signal transduction, chromatin modification and cohesin complex have been identified as important mechanisms for the development of MDS, among which some mutations have been found to play important roles in the diagnosis, treatment, and prognosis of MDS. This article has provided a comprehensive review the the common molecular genetic abnormalities involved in MDS.
Humans ; Myelodysplastic Syndromes/diagnosis* ; Mutation ; DNA Methylation ; RNA Splicing ; High-Throughput Nucleotide Sequencing

Vascular aging (VA) is a common etiology of various chronic diseases and represents a major public health concern. Intermittent hypoxia (IH) associated with obstructive sleep apnea-hypopnea syndrome (OSAHS) is a primary pathological and physiological driver of OSAHS-induced systemic complications. A substantial proportion of OSAHS patients, estimated to be between 40% and 80%, have comorbidities such as hypertension, heart failure, coronary artery disease, pulmonary hypertension, atrial fibrillation, aneurysm, and stroke, all of which are closely associated with VA. This review examines the molecular and cellular features common to both OSAHS and VA, highlighting decreased melatonin secretion, impaired autophagy, increased apoptosis, increased inflammation and pyroptosis, increased oxidative stress, accelerated telomere shortening, accelerated stem cell depletion, metabolic disorders, imbalanced protein homeostasis, epigenetic alterations, and dysregulated neurohormonal signaling. The accumulation and combination of these features may underlie the pathophysiological link between OSAHS and VA, but the exact mechanisms by which OSAHS affects VA may require further investigation. Taken together, these findings suggest that OSAHS may serve as a novel risk factor for VA and related vascular disorders, and that targeting these features may offer therapeutic potential to mitigate the vascular risks associated with OSAHS.
Humans ; Sleep Apnea, Obstructive/pathology* ; Aging/physiology* ; Oxidative Stress/physiology* ; Animals

Natural antimicrobial peptides(AMPs)are promising candidates for the development of a new gener-ation of antimicrobials to combat antibiotic-resistant pathogens.They have found extensive applications in the fields of medicine,food,and agriculture.However,efficiently screening AMPs from natural sources poses several challenges,including low efficiency and high antibiotic resistance.This review focuses on the action mechanisms of AMPs,both through membrane and non-membrane routes.We thoroughly examine various highly efficient AMP screening methods,including whole-bacterial adsorption binding,cell membrane chromatography(CMC),phospholipid membrane chromatography binding,membrane-mediated capillary electrophoresis(CE),colorimetric assays,thin layer chromatography(TLC),fluorescence-based screening,genetic sequencing-based analysis,computational mining of AMP data-bases,and virtual screening methods.Additionally,we discuss potential developmental applications for enhancing the efficiency of AMP discovery.This review provides a comprehensive framework for identifying AMPs within complex natural product systems.

Objective To investigate the prevalence of scoliosis and congenital heart disease(CHD)and their correlation among children and adolescents of Drung nationality in Yunnan Province.Methods A cross-sectional survey was conducted in November 2022 among all Drung school-aged children and adolescents aged 5-18 years in Gongshan Drung and Nu Autonomous County,Yunnan Province.Visual inspection,Adams for-ward flexion test,and trunk rotation angle(ATR)measurement were comprehensively used for school prelim-inary screening of scoliosis.Individuals who tested positive in the school preliminary screening underwent fur-ther X-ray examination for auxiliary diagnosis.Cardiac auscultation and echocardiography were used for school preliminary screening of CHD.The personal information of the screening subjects,the screening results,etc.were recorded.The prevalence of scoliosis and CHD among children and adolescents of the Drung nationality and the relationship between the two diseases were statistically analyzed,and the positive predictive value of school-based scoliosis screening and its influencing factors were also analyzed.Results A total of 1 036 chil-dren and adolescents of Drung nationality were enrolled,with a mean age of(10.72±3.75)years,icluding 542 males and 494 females.A total of 45 subjects tested positive for scoliosis in the school preliminary screening,with a preliminary positive rate of 4.34%.A total of 22 cases were finally diagnosed with scoliosis,with a prevalence rate of 2.12%.Among them,21 cases were idiopathic scoliosis(accounting for 95.45%),and 1 case was congenital scoliosis(accounting for 4.55%).The prevalence rate was higher in females(2.83%)than that in males(1.48%),higher in the 10 to 18-year-old group(2.30%)than that in the 5 to<10-year-old group(1.87%),and higher in the secondary school group(2.78%)than that in the primary school group(1.78%),hut there were no statistically significant differences(P>0.05).Most idiopathic scoliosis cases were mild(Cobb angle 10° to<20°,90.48%)and classified as Lenke type Ⅴ(57.14%).Two cases of CHD were confirmed,both of which were atrial septal defects,with a prevalence rate of 0.19%.The co-occurrence rate of idiopathic scoliosis and CHD was 4.76%(1/21).The positive predictive value of school-based scoliosis pre-liminary screening was only 48.89%.When the BMI was<18.5 kg/m2,the positive predictive value was sig-nificantly higher than that for BMI≥18.5 kg/m2(P<0.05).Conclusion The prevalence rate of scoliosis a-mong adolescents of the Drung ethnic group in Yunnan Province is 2.12%,predominantly idiopathic scoliosis,with Lenke type V being the most common classification.The prevalence rate of congenital heart disease is 0.19%.BMI is a significant influencing factor for the positive predictive value of school-based scoliosis prelimi-nary screening.

Natural antimicrobial peptides (AMPs) are promising candidates for the development of a new generation of antimicrobials to combat antibiotic-resistant pathogens. They have found extensive applications in the fields of medicine, food, and agriculture. However, efficiently screening AMPs from natural sources poses several challenges, including low efficiency and high antibiotic resistance. This review focuses on the action mechanisms of AMPs, both through membrane and non-membrane routes. We thoroughly examine various highly efficient AMP screening methods, including whole-bacterial adsorption binding, cell membrane chromatography (CMC), phospholipid membrane chromatography binding, membrane-mediated capillary electrophoresis (CE), colorimetric assays, thin layer chromatography (TLC), fluorescence-based screening, genetic sequencing-based analysis, computational mining of AMP databases, and virtual screening methods. Additionally, we discuss potential developmental applications for enhancing the efficiency of AMP discovery. This review provides a comprehensive framework for identifying AMPs within complex natural product systems.

Objective:To investigate the clinical features, diagnostic and therapeutic methods, and prognosis of patients with acute myeloid leukemia (AML) who are positive for multiple genes.Methods:The clinical data of a 35-year-old male AML patient, who was admitted to The 940 th Hospital of the PLA Joint Logistics Support Force on October 10, 2021, were analyzed based on related literature. Results:The patient was admitted due to rhinorrhea for 1 month and sore throat with cervical lymph node enlargement for 3 days. Based on laboratory test results, the patient was diagnosed with acute myelomonocytic leukemia with eosinophilia and mutations in the core-binding factor β subunit gene ( CBFβ-MYH11), located on the long arm of chromosome 16, as well as mutations in the Wilms' tumor 1 gene ( WT1), the stem cell factor receptor gene ( KIT), and the neuroblastoma RAS viral oncogene homolog ( NRAS). The patient was treated multiple times with a regimen of idarubicin combined with cytarabine (Ara-C), achieving complete remission with negative minimal residual disease detection. The patient tolerated the treatment well. However, after the fourth cycle of chemotherapy with Ara-C, the patient developed grade Ⅳ bone marrow suppression. Following treatment to increase white blood cells and platelets, as well as blood component transfusions, the patient's condition improved. Subsequently, after receiving intensified Ara-C treatment, the patient's condition stabilized. Conclusions:AML with a positive CBFβ- MYH11 fusion gene has a favorable prognosis. However, the presence of a concomitant KIT mutation and a high proportion of primitive white blood cells in the peripheral blood at initial diagnosis may affect the prognosis of this type of AML. Additionally, WT1 is an independent prognostic factor for AML. RAS gene mutations do not impact overall survival, disease-free survival, complete remission, or relapse rates.

Objective:To investigate the clinical features, diagnostic and therapeutic methods, and prognosis of patients with acute myeloid leukemia (AML) who are positive for multiple genes.Methods:The clinical data of a 35-year-old male AML patient, who was admitted to The 940 th Hospital of the PLA Joint Logistics Support Force on October 10, 2021, were analyzed based on related literature. Results:The patient was admitted due to rhinorrhea for 1 month and sore throat with cervical lymph node enlargement for 3 days. Based on laboratory test results, the patient was diagnosed with acute myelomonocytic leukemia with eosinophilia and mutations in the core-binding factor β subunit gene ( CBFβ-MYH11), located on the long arm of chromosome 16, as well as mutations in the Wilms' tumor 1 gene ( WT1), the stem cell factor receptor gene ( KIT), and the neuroblastoma RAS viral oncogene homolog ( NRAS). The patient was treated multiple times with a regimen of idarubicin combined with cytarabine (Ara-C), achieving complete remission with negative minimal residual disease detection. The patient tolerated the treatment well. However, after the fourth cycle of chemotherapy with Ara-C, the patient developed grade Ⅳ bone marrow suppression. Following treatment to increase white blood cells and platelets, as well as blood component transfusions, the patient's condition improved. Subsequently, after receiving intensified Ara-C treatment, the patient's condition stabilized. Conclusions:AML with a positive CBFβ- MYH11 fusion gene has a favorable prognosis. However, the presence of a concomitant KIT mutation and a high proportion of primitive white blood cells in the peripheral blood at initial diagnosis may affect the prognosis of this type of AML. Additionally, WT1 is an independent prognostic factor for AML. RAS gene mutations do not impact overall survival, disease-free survival, complete remission, or relapse rates.

Objective:To explore the developmental characteristics of different cognitive styles on verbal and visuospatial working memory of primary school students.Methods:The Mosaic graph test was used to test the cog-nitive style of students in grades 2,4 and 6.The three-factor mixed experiment of 2(cognitive style:field independ-ent,field dependent)× 3(grade:2,4,6)× 2(task type:letter task,spatial task)was carried out.The 2-back task was used to measure the working memory characteristics of students with different cognitive styles,and the repeated measurement ANOVA was performed on the accuracy of letter and spatial tasks of 175 effective subjects.Results:The accuracy of letter task and spatial task of field independent primary school students were higher than that of field-dependent primary school students(P＜0.001).The accuracy rate of letter task for field independent primary school students was higher than that of space task(P＜0.001).The accuracy of two kinds of tasks of field inde-pendent students in grade 6 was better than that of field independent students in grade 2 and grade 4(P＜0.05).Conclusion:There are differences in the development of verbal and visuospatial working memory of primary school students with different cognitive styles,which may also be related to task type and age.

Multiple myeloma(MM)is a plasma cell malignancy that is heterogeneous in both clinical and bio-logical settings.Despite extensive research and considerable progress in treatment,disease heterogeneity and relapse re-main a major challenge in MM treatment.Single-cell transcriptome sequencing(scRNA-seq)technology based on next-generation sequencing can detect the heterogeneity of tumor cells and bone marrow microenvironment at the single-cell level,thereby improving our understanding of MM diagnosis stratification,precise treatment and prognosis prediction.This article reviews the application of scRNA-seq in the diagnosis,treatment and prognosis of MM.

DNA methylation is an important epigenetic regulatory mechanism which plays a crucial role in cell differentiation and development. Its function is closely related to DNA methyltransferase 3 alpha (DNMT3A), which can affect gene expression and stem cell differentiation. The mutation rate of the DNMT3A gene is relatively high in Acute myeloid leukemia (AML), but its type and pathogenic mechanism are not yet clear. Further research on DNMT3A may help to identify its pathogenic targets and provide a basis for precise treatment of AML. This article has provided a review for the research progress on the expression of the DNMT3A gene in AML.