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

AIM: To investigate the association between dyslipidemia and macular hard exudates(HEs)in non-proliferative diabetic retinopathy(NPDR)secondary to type 2 diabetes mellitus(T2DM).METHODS: NPDR patients attending the outpatient ophthalmology clinic from January 2021 to December 2023 were selected and divided into three groups according to the severity of macular HEs. Group A: None or minimal HEs; Group B: Definite HEs; Group C: Prominent HEs. Total cholesterol(TC), triglycerides(TG), low-density lipoprotein cholesterol(LDL-C), high-density lipoprotein cholesterol(HDL-C), lipoprotein(a)[Lp(a)] levels and other lipid-related indicators were routinely measured. The correlation between these indicators and HEs was analyzed.RESULTS:Group A(24 eyes)consisted of 9 males and 15 females with the mean age of 54.71±6.15 y, group B(52 eyes)consisted of 20 males and 32 females with the mean age of 55.08±6.27 y, group C(14 eyes)consisted of 9 males and 5 females with the mean age of 53.93±6.08 y. The concentration of TC, TG, LDL-C and Lp(a)was highest in group C, followed by group B and lowest in group A with statistically significant differences(P<0.001). There were no statistically significant differences between the three groups for fasting plasma glucose(FPG), glycated hemoglobin A1c(HbA1c), creatinine(Cr), and HDL-C(P>0.05). The results of multivariate Logistic regression analysis showed that elevated levels of TC, TG, LDL-C, and Lp(a)were associated with the presence of macular HEs. Receiver operating characteristiccurve analysis showed that the area under the curve(AUC)for TC, TG, LDL-C, Lp(a), and their combination in predicting macular HEs in NPDR were 0.785, 0.718, 0.784, 0.742, and 0.911, respectively, with the combined model demonstrating the highest predictive performance.CONCLUSION: Dyslipidemia is closely associated with the development and progression of macular HEs in patients with NPDR and T2DM. The levels of TC, TG, LDL-C, and Lp(a)were correlated with the severity of macular HEs, suggesting that dyslipidemia may be involved in the pathological process of macular HEs formation.

BackgroundPrevious studies have identified a close relationship among psychological neglect and abuse， negative affect， different stages of adolescence， and suicidal ideation. However， the mechanisms underlying the impact of psychological abuse and neglect on suicidal ideation among left-behind adolescents remain unclear， and this field of research is still in its relative infancy. ObjectiveTo explore the relationship between psychological neglect/abuse and suicidal ideation among left-behind adolescents， as well as the mediating role of negative affect and the moderating effect of different stages of adolescence， so as to provide insights for preventing and intervening suicidal ideation in this population. MethodsFrom November 2021 to May 2022， a cluster random sampling technique was utilized to select 2 309 left-behind adolescents in western China. Assessments were conducted using the Child Psychological Abuse and Neglect Scale （CPANS）， the Positive and Negative Suicide Ideation （PANSI） and the Positive and Negative Affect Schedule for Children （PANAS-C）. Spearman correlation coefficients were calculated across all samples， and Process 4.1 was employed to test the mediating role of negative affect and the moderating role of different stages of adolescence in the pathway linking psychological abuse/neglect to suicidal ideation. ResultsA total of 2 119 left-behind adolescents （mean age： 14.94±1.20 years） completed the study， with males comprising 51.34% （1 088/2 119） and females 48.66% （1 031/2 119）.Among left-behind adolescents， scores on CPANS psychological neglect subscale showed positive correlations with both psychological abuse subscale scores and PANAS-C negative affect subscale scores （r=0.446， 0.496， P<0.01）. Additionally， CPANS psychological neglect and psychological abuse subscale scores were also positively correlated with PANSI scores （r=0.487， 0.508， P<0.01）. Furthermore， PANAS-C negative affect subscale scores demonstrated a positive correlation with PANSI scores （r=0.499， P<0.01）. Negative affect partially mediated the relationship between psychological abuse/psychological neglect and suicidal ideation， with effect sizes of 0.166 （95% CI： 0.141~0.191） and 0.131 （95% CI： 0.112~0.152）. Different stages of adolescence moderated the latter part （negative emotion → suicidal ideation） of the indirect mediation path from psychological neglect to suicidal ideation through negative affect （β=-0.066， P<0.01）. ConclusionBoth psychological neglect and psychological abuse may influence suicidal ideation among left-behind adolescents via negative affect. Moreover， different stages of adolescence may moderate the indirect path from psychological neglect to suicide ideation through negative affect.

Cytidine/uridine monophosphate kinase 2(CMPK2)is an interferon-stimulated gene that plays an important role against viral infections.CMPK2 is also a rate-limiting enzyme in mitochon-dria that maintains intracellular levels of UTP/CTP and can affect inflammation triggered by path-ogenic infections and other causes of alterations in mitochondria.In this article,we review the structure and distribution of CMPK2,its role in responding to pathogenic infections and the regu-lation of inflammation,and the associated signaling pathways.

Objective:To explore the effect of transcranial direct current stimulation (tDCS) on dysphagia in hemispheric stroke patients.Methods:Sixty-two hemispheric stroke patients with dysphagia were randomized into an ipsilateral group, a contralateral group and a bilateral group with 20 in each group. The ipsilateral and contralateral groups received tDCS over their ipsilesional and contralesional hemispheres, respectively, while in the bilateral group it was over both hemispheres. That was followed by conventional swallowing therapy. Before and after 2 weeks of the treatment, swallowing function was assessed using the modified Mann Assessment of Swallowing Ability (MMASA) and a Swallow Severity scale (SSS). Linear regressions were evaluated to highlight the factors most influencing recovery from post-stroke hemispheric dysphagia.Results:After the treatments, the average MMASA and SSS scores had increased significantly in all three groups. There was no significant difference in the average post-treatment MMASA and SSS scores between the ipsilateral and contralateral groups, but the bilateral group showed significantly better average post-treatment MMASA and SSS scores compared to the other two groups. Linear regression analysis confirmed that the tDCS protocol (group allocation) was a significant predictor of recovery.Conclusion:Bilateral tDCS can effectively promote the recovery of swallowing function after a hemispheric stroke. It demonstrates greater therapeutic benefits than unilateral tDCS.

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.

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.

Cytidine/uridine monophosphate kinase 2(CMPK2)is an interferon-stimulated gene that plays an important role against viral infections.CMPK2 is also a rate-limiting enzyme in mitochon-dria that maintains intracellular levels of UTP/CTP and can affect inflammation triggered by path-ogenic infections and other causes of alterations in mitochondria.In this article,we review the structure and distribution of CMPK2,its role in responding to pathogenic infections and the regu-lation of inflammation,and the associated signaling pathways.

Objective:To explore the effect of transcranial direct current stimulation (tDCS) on dysphagia in hemispheric stroke patients.Methods:Sixty-two hemispheric stroke patients with dysphagia were randomized into an ipsilateral group, a contralateral group and a bilateral group with 20 in each group. The ipsilateral and contralateral groups received tDCS over their ipsilesional and contralesional hemispheres, respectively, while in the bilateral group it was over both hemispheres. That was followed by conventional swallowing therapy. Before and after 2 weeks of the treatment, swallowing function was assessed using the modified Mann Assessment of Swallowing Ability (MMASA) and a Swallow Severity scale (SSS). Linear regressions were evaluated to highlight the factors most influencing recovery from post-stroke hemispheric dysphagia.Results:After the treatments, the average MMASA and SSS scores had increased significantly in all three groups. There was no significant difference in the average post-treatment MMASA and SSS scores between the ipsilateral and contralateral groups, but the bilateral group showed significantly better average post-treatment MMASA and SSS scores compared to the other two groups. Linear regression analysis confirmed that the tDCS protocol (group allocation) was a significant predictor of recovery.Conclusion:Bilateral tDCS can effectively promote the recovery of swallowing function after a hemispheric stroke. It demonstrates greater therapeutic benefits than unilateral tDCS.

Objective To investigate the influencing factors for tendency towards depression in college students having music listening habits with music APP,and develop a prediction model and further optimize it.Methods A total of 1 157 college students were subjected with convenient sampling and surveyed with questionaires between April and May 2023.Univariate analysis and logistic regression analysis were employed to identify the influencing factors.Then a prediction model was constructed based on these factors.SMOTEENN over-sampling algorithm was utilized to enhance the dataset and construct the prediction model.Results Logistic regression analysis revealed that female(OR=1.730,95％CI:1.257～2.396),senior grade(OR=2.649,95％CI:1.198～7.506),postgraduate grade(OR=2.041,95％CI:1.231～3.885),major in Science(OR=1.573,95％CI:1.052～2.350),listening for a duration of 0.5～2 h(OR=1.661,95％CI:1.011～2.695),music style of melancholy(OR=2.668,95％CI:1.701～4.226)and of nostalgia(OR=1.751,95％CI:1.086～2.837),and frequency of comments on 0～5％of songs(OR=2.938,95％CI:1.018～8.417)were independent risk factors for depressive tendency.Time since listening to music for 1～3 years(OR=0.547,95％CI:0.347～0.872),listening to music from 14:00 to 18:00(OR=0.375,95％CI:0.167～0.845)and 18:00 to 21:00(OR=0.313,95％CI:0.148～0.671),and preference for Chinese style songs(OR=0.711,95％CI:0.541～0.941)were independent protective factors.The logistic early warning model based on SMOTEENN algorithm demonstrated optimal predictive performance with an AUC value of 0.923.Conclusion Our constructed logistic regression model has identified 9 independent influencing factors associated with depression tendency among college students.The early warning model based on SMOTEENN algorithm can predict the depression tendency more accurately for college students.