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

There is controversy over the specific and non-specific components in the efficacy evaluation of acupuncture therapy.The placebo effect,as a key non-specific factor,needs to be clarified in terms of its mechanism and clinical value.This article reviewed the research progress in the placebo effect of acupuncture from three aspects:cognitive process,influencing factors,and mechanism.It focused on the regulatory effects of patient expectations,doctor-patient interaction,and individual differences on the effect,summarized key mechanisms such as endogenous opioid system,dopamine reward pathway,and neural projection of rostral anterior cingulate cortex to pontine nucleus,and pointed out the methodological limitations of current comfort acupuncture designs,in order to provide theoretical basis for the optimization of acupuncture clinical research models and the deepening of the effect mechanism.

Objective:To investigate the risk factors for deep venous thrombosis(DVT)in elderly patients with pulmonary tuberculosis.Methods:A total of 240 elderly patients(≥60 years old)with pulmonary tuberculosis, admitted to Beijing Chest Hospital from January 2020 to August 2024, were retrospectively analyzed.Based on the results of lower extremity venous ultrasound, the patients were divided into a DVT group(80 cases)and a non-DVT group(160 cases).The risk factors for DVT were analyzed using univariate and multivariate logistic regression.Results:Univariate analysis revealed that age, diabetes mellitus, chronic heart failure, prolonged bed rest, elevated D-dimer levels, decreased serum albumin, sputum positivity, and other factors were significantly more prevalent in the thrombosis group compared to the non-thrombosis group( P<0.05).Additionally, multivariate logistic regression analysis indicated that age ≥75 years( OR=2.15, 95% CI: 1.32-3.52), chronic heart failure( OR=2.90, 95% CI: 1.35-6.20), bed rest ≥7 days( OR=3.25, 95% CI: 1.75-6.05), D-dimer ≥3.0 mg/L( OR=5.05, 95% CI: 2.71-9.42), sputum positivity( OR=2.34, 95% CI: 1.28-4.29), and low albumin levels( OR=1.89, 95% CI: 1.17-3.06)were identified as risk factors for lower extremity DVT in elderly patients with pulmonary tuberculosis. Conclusions:The risk of DVT in elderly patients with pulmonary tuberculosis is closely associated with pathogen activity, abnormal coagulation function, and prolonged bed rest.The combination of D-dimer levels and sputum positivity can effectively screen for high-risk populations.Clinicians should prioritize early identification and intervention in these high-risk groups to reduce the incidence of DVT.

Objective:To detect the expression levels of long non-coding RNAs(lncRNA)in elderly patients with pulmonary tuberculosis(PTB)and those with non-tuberculous lung diseases(non-TB), and to assess the performance of these lncRNA in the differential diagnosis of PTB.Methods:A total of 300 elderly patients with suspected PTB were recruited from Beijing Chest Hospital between January 2024 and September 2024, and were further divided into the PTB group and the non-TB lung disease group based on the results of mycobacterium tuberculosis(MTB)pathogenicity testing.Peripheral blood mononuclear cells were isolated using a lymphocyte separation solution, and RNA was extracted using the TRIzol method.Nine lncRNAs, previously identified as differentially expressed in PTB through our group's microarray analysis, were selected and detected by real-time fluorescence quantitative polymerase chain reaction to evaluate the expression levels of these lncRNAs between the PTB and non-TB lung disease groups.The overall patients were randomly divided into training and validation sets in a 7∶3 ratio.Lasso regression was employed to select the characteristic variables, and a random forest algorithm was then used to construct the lncRNA diagnostic portfolio.Receiver operating characteristic(ROC)curves were generated to evaluate the diagnostic performance of individual lncRNAs and the combined panel in differentiating elderly patients with PTB from those with other non-TB lung diseases.Results:A total of 201 cases were included, with 105 confirmed elderly patients diagnosed with PTB(52.2%)and 96 elderly patients suffering from non-TB lung disease(47.8%).Compared to the elderly patients with non-TB lung disease, the expression levels of ENST00000417346.1, ENST00000620744.1, lncRNA PWP1, ENST00000583184.1, lncRNA ABHD17B, ENST00000607464.1, ENST00000516057.1, and NR_003000 were significantly downregulated in the PTB patients, whereas the expression level of lncRNA BCL2L10 was significantly upregulated in the PTB patients.ROC analysis revealed that the area under the curve(AUC)for each lncRNA ranged from 0.659 to 0.848.The diagnostic panel, which included NR_003000, ENST00000607464.1, ENST00000583184.1, and ENST00000620744.1 as determined by Lasso analysis, exhibited AUC values of 0.917 and 0.906 in the training and validation sets, respectively.The performance of this panel was superior to that of each individual lncRNA.Conclusions:The random forest model, which incorporates NR_003000, ENST00000607464.1, ENST00000583184.1, and ENST00000620744.1, demonstrates potential in differentiating between PTB and non-TB lung diseases.

Prolonged disorders of consciousness(pDoC)are complex and prolonged conditions that severely impact patient prognosis and remain a clinical treatment challenge.In recent years,neural regulation-based awakening therapies have been widely applied in the assessment and treatment of pDoC patients.Repetitive transcranial magnetic stimulation(rTMS)technology can regulate neural activity and improve patients'consciousness states,demonstrating positive awakening effects for pDoC patients.However,the optimal stimulation parameters and awakening mechanisms of rTMS remain unclear.This article reviews the pathological mechanisms of pDoC,clinical applications of rTMS at different targeting sites and stimulation frequencies,and focuses on exploring how rTMS promotes consciousness recovery through neural mechanisms such as altering neural pathways,reshaping brain networks,promoting synaptic plasticity and neurotransmitter release,regulating neurotrophic factor expression,and modulating cerebral hemodynamics.Based on artificial intelligence,the article also prospects the future clinical research applications of rTMS.

Objective:To investigate the value of electrical cardiometry(EC),a noninvasive hemodynamic testing technique,in the di-agnosis of heart failure(HF)in adults.Methods:A prospective study was conducted among the adult patients who were hospitalized in Department of Cardiology,The First Affiliated Hospital of Chongqing Medical University,from September 2022 to May 2024,and the patients who were diagnosed with HF were enrolled as HF group,while those who were excluded from the clinical diagnosis of HF were enrolled as control group.The two groups were compared in terms of general clinical data and related parameters measured by EC,in-cluding stroke volume variation(SVV),systolic time ratio(STR),pre-ejection period(PEP),index of contractility(ICON),ICON varia-tion(VIC),left ventricular ejection time(LVET),and left ventricular ejection fraction(LVEF).A multivariate logistic regression model established by the forward method was used to investigate the factors associated with HF.The receiver operating characteristic(ROC)curve was plotted for the hemodynamic parameters measured by EC in the diagnosis of HF,and the area under the ROC curve(AUC)was calculated.Results:A total of 239 patients were enrolled,with 126 in the HF group and 113 in the control group.Compared with the control group,the HF group had significantly higher SVV,STR,PEP,VIC,and age and significantly lower ICON,LVET,and LVEF(all P<0.001).The multivariate logistic regression model estab-lished by the forward method showed that STR(odds ratio[OR]=1.199,95%CI=1.110-1.294,P<0.001),VIC(OR=1.176,95%CI=1.090-1.269,P<0.001),and age(OR=1.068,95%CI=1.010-1.128,P<0.05)were positively correlated with HF,and ICON(OR=0.968,95%CI=0.941-0.996,P<0.05)and LVEF(OR=0.854,95%CI=0.798-0.913,P<0.001)were negatively correlated with HF.The ROC curve analysis showed that STR,VIC,and ICON had an AUC of 0.887(95%CI=0.848-0.927),0.891(95%CI=0.851-0.932),and 0.718(95%CI=0.654-0.782),respectively,in the diagnosis of HF,with an optimal cut-off value of 37.5%,19.5%,and 49.3,respec-tively,a sensitivity of 91.3%,73.8%,and 50.0%,respectively,and a specificity of 61.4%,93.8%,and 86.7%,respectively.Among these indicators,STR combined with VIC had an AUC of 0.940(95%CI=0.912-0.967)in the diagnosis of HF,with a sensitivity of 83.3%and a specificity of 91.2%.Conclusion:The EC method can effectively assess the cardiac functional status of adult patients,and STR combined with VIC has some clinical value for the diagnosis of heart failure.

Objective To investigate whether aberrant DNA methylation of ubiquinol-cytochrome C reductase core protein 1(UQCRC1)is related to cognitive impairment caused by neonatal sevoflurane exposure.Methods A total of 94 SPF C57 mice of either sex,aged 6 d,and weighing 4～6 g,were randomly divided into 7 groups:control group(Con,n=6),sevoflurane-6 and-24 h exposure groups(Sev-6 and-24 h,n=6),control+DMSO group(Con+DMSO,n=19),control+5-aza-2'-deoxycytidine(5-AZA,methylation inhibitor)group(Con+5-AZA,n=19),sevoflurane+DMSO group(Sev+DMSO group,n=19),and sevoflurane+5-AZA group(Sev+5-AZA group,n=19).From 6 to 8 d after birth,the mice of the Sev-6 and-24 h exposure groups were exposed to 3％sevoflurane daily(with 97％oxygen,2 L/min,2 h per day),while those from the Con groups were given exposure of 100％oxygen(2 L/min,2 h per day).For the mice of the 5-AZA and DMSO groups,1 mg/kg of 5-AZA or an equal volume of DMSO was injected intraperitoneally 30 min before daily exposure.In 6 and 24 h after the last exposure to sevoflurane,6 mice from the Con,Sev-6 h,and Sev-24 h groups were euthanized for biochemical analysis,and in 24 h post-exposure,6 mice from the Con+DMSO,Con+5-AZA,Sev+DMSO,and Sev+5-AZA groups were randomly selected for biochemical analysis,while another 3 mice from above each group were also randomly selected for morphological analysis.The remaining 10 mice in these groups underwent behavioral testing(open field test,novel object test,and Y-maze test)at 30～33 d after birth to assess cognitive function,and were euthanized in 24 h after the final behavioral test.RT-qPCR and Western blotting were used to detect the hippocampal expression of UQCRC1,DNA methyltransferases(Dnmts),and methyl CpG binding protein 2(Mecp2)at mRNA and protein levels,respectively.Immunofluorescence assay was employed to observe the distribution and expression of UQCRC1 in the hippocampus.Bisulfite sequencing PCR(BSP)was applied to measure the methylation in the UQCRC1 promoter region.Results Compared with the Con group,the mRNA and protein levels of UQCRC1 were down-regulated(P<0.05),and the mRNA level of Dnmts was up-regulated(P<0.05)in both the Sev-6 h and Sev-24 h exposure groups,while the methylation level in the UQCRC1 promoter region was enhanced in the Sev-24 h exposure group(P<0.05).Additionally,the Sev+5-AZA group had obviously increased mRNA and protein levels of UQCRC1(P<0.05),and notable improvement in cognitive impairment(P<0.05)when compared with the Sev+DMSO group.Conclusion Hypermethylation of UQCRC1 promoter region and thus down-regulating its mRNA and protein expression might be the main mechanism by which repeated neonatal sevoflurane exposure induces cognitive impairment later in life.

Objective To analyze the burden of atherosclerotic cardiovascular disease(ASCVD)attributable to lifestyle and metabolic factors in China from 1990 to 2021 and predict its future trends,providing evidence for public health prevention and control.Methods Based on the Global Burden of Disease(GBD)2021 database,we extracted disability-adjusted life years(DALYs)of ASCVD attributable to 7 key risk factors:dietary,low physical activity,smoking,high body mass index(BMI),high fasting blood glucose,high low-density lipid cholesterol(LDL-C),and hypertension.Age-standardized DALY rates(ASDR)were also calculated to account for variations in age structure,and an ARIMA model was applied to predict future trends.Results ① Overall trend analysis showed the leading risk factor for ischemic heart disease(IHD)shifted from dietary risks in 1990 to hypertension in 2021,while hypertension and smoking remained the primary risk factors for ischemic stroke(IS)and peripheral artery disease(PAD),respectively.② In BRICS nations,hypertension was the dominant risk factor for both IHD and IS,whereas in China,smoking and high fasting blood glucose continued to be the major drivers of PAD burden.③ Sex-specific analysis revealed that hypertension was the leading risk factor for IHD and IS in both males and females.For PAD,smoking was the main risk factor in males,while high fasting blood glucose was for females.Age-stratified analysis revealed that in the 15-49 age group,dietary,high LDL-C and smoking were the primary factor for IHD,IS and PAD,respectively;in the 50-69 group,dietary predominated IHD risk,hypertension IS,and smoking PAD;and among those aged≥70 years,hypertension was the leading risk factor for both IHD and IS,and high fasting blood glucose was for PAD.④ ARIMA model forecasted that by 2035,DALYs for IHD,IS,and PAD will increase to 82.816 million,46.808 million,and 0.192 million person-years,respectively.Conclusion The ASCVD burden attributable to lifestyle and metabolic factors continues to rise in China from 1990 to 2021,and is projected to further increase by 2035.Countermeasures We suggest that current prevention and control priorities are enhanced management of metabolic factors,tailored interventions by sex and age,promotion of healthy lifestyles and tobacco control,and establishment of an integrated system of prevention-treatment-rehabilitation-research.

Objective To observe the efficacy of occlusive dressing therapy combined with infra-red lamp irradiation on skin lesions in patients with synovitis-acne-pustulosis-hyperostosis-osteomyeli-tis(SAPHO)syndrome.Methods A total of 52 patients with SAPHO syndrome were selected as study subjects.They were randomly divided into control group and observation group using random number table method,with 26 patients in each group.The control group received conventional treat-ment,while the observation group received occlusive dressing therapy combined with infrared lamp ir-radiation on the basis of the control group.The skin lesion scores,Dermatology Life Quality Index(DLQI)scores,Self-rating Anxiety Scale(SAS)scores,and Self-rating Depression Scale(SDS)scores of the two groups were compared.The clinical efficacy and adverse reactions of the two groups were also statistically analyzed.Results One and two months after treatment,the skin lesion scores of both groups were lower than those before treatment,and the scores in the observation group were lower than those in the control group(P＜0.05).After treatment,the DLQI,SAS,and SDS scores of both groups were lower than those before treatment,and the scores in the observation group were lower than those in the control group(P＜0.05).The total effective rate in the observation group was 96.15％,which was higher than 80.77％ in the control group(P＜0.05).There was no statistically significant difference in the incidence of adverse reactions between the two groups(P＞0.05).Con-clusion Occlusive dressing therapy combined with infrared lamp irradiation can significantly improve the symptoms of skin lesions and the psychological state of patients with SAPHO syndrome,as well as enhance their quality of life and the therapeutic effect of the disease.

Objective To establish a model to predict the severity of patients with COVID-19 associated diarrhea by analyzing the differences of laboratory detection indicators in different grades of patients with COVID-19 associated diarrhea.Methods A total of 649 COVID-19 patients combined with diarrhea hospitalized in Wuhan Huoshenshan Hospital from February 2020 to April 2020 were retrospectively selected,and the patients with obvious causes of diarrhea had been excluded.They were further divided into the common group(n=282),severe group(n=314),and critical group(n=53),and the differences in clinical and laboratory indicators among the three groups were compared.The XGBoost model was established,and its diagnostic efficacy in predicting the severity of patients with COVID-19 associated diarrhea was evaluated by the ROC curve.Results There were statistically significant differences in blood routine test,liver function,electrolytes,fecal occult blood and other laboratory indicators among the three groups of COVID-19 associ-ated diarrhea(P＜0.05).The white blood cell count,absolute value and percentage of neutrophils,and levels of serum lactate dehydro-genase(LDH),α-hydroxybutyrate dehydrogenase(α-HBDH),γ-glutamyl transpeptidase(GGT),B-type natriuretic peptide,and blord glucose(Glu)in the critical group were significantly higher than those in the common group and severe group(P＜0.05),while the percentages of lymphocytes,monocytes,eosinophils,and basophils,and chloride concentration were significantly lower than those in the common group and severe group(P＜0.05).The results of the ROC curve showed that the prediction model constructed by eight indicators,including C-reactive protein(CRP),LDH,interleukin-6(IL-6),Glu,PT％activity,chloride(Cl-),D-dimer(DD),and procalcitonin(PCT),had significant predictive value for critical patients(AUCROC=0.939),but no obvious predictive value for the patients in the common group(AUCROC=0.630)and severe group(AUCROC=0.553).Conclusion The COVID-19 patients com-bined with diarrhea have a higher probability of developing severe or critical conditions compared with those without diarrhea.The indi-cators such as CRP,LDH,IL-6,Glu,PT％activity,Cl-,DD,and PCT have significant predictive value on whether the COVID-19 patients combined with diarrhea turn to critical illness.