In 2025， European Association for the Study of the Liver published the clinical practice guidelines on vascular diseases of the liver. The guidelines comprehensively elaborate on the vascular diseases of the liver from the aspects of risk factors， diagnosis， and treatment strategies， in order to provide guidance for the management of patients with these conditions based on the best evidence available. This article gives an excerpt of the recommendations and guidance statements in the clinical practice guidelines.

Objective:To quickly identify the causes of morphological abnormalities of microcytic hypochromic erythrocytes that are detected during health checkups for recruitment of flying cadets, and to explore its role in medical selection.Methods:Students with hemoglobin (Hb)≥110 g/L and morphological abnormalities of microcytic hypochromic erythrocytes detected during the 2023 medical selection of flying cadets by Guangzhou Selection Center were selected. Their medical history was collected, and iron metabolism, Hb electrophoresis and hemoglobin H (HbH) inclusion bodies were examined to screen for thalassemia and iron deficiency. The diagnosis of thalassemia was confirmed by thalassemia gene testing. Those with iron deficiency received iron supplementation therapy and the recovery of Hb was observed.Results:Ninety-one students were diagnosed with Hb≥110 g/L and morphological abnormalities of microcytic hypochromic erythrocytes, accounting for 4.35% of the total. Among these cases, 85 with abnormal Hb electrophoresis and/or positive HbH inclusion body detection were confirmed as thalassemia minor via thalassemia genetic testing, and 3 cases with normal iron metabolism, Hb electrophoresis, and negative HbH inclusion body detection. A total of 88 cases of thalassemia minor were diagnosed, accounting for 96.70% of the total. Among them, 2 cases were complicated with iron deficiency while 3 were diagnosed with iron deficiency erythropoiesis. Out of the 91 students with Hb≥110 g/L and morphological abnormalities of microcytic hypochromic erythrocytes, 9 were recruited, including 7 cases with thalassemia minor (Hb≥130 g/L), 1 case with thalassemia minor combined with iron deficiency erythropoiesis (Hb≥130 g/L after iron supplementation), and 1 case with iron deficiency erythropoiesis (Hb≥130 g/L after iron supplementation). Among the 9 recruits, 8 were followed up for over one year and the results of their military physical fitness tests all reached or exceeded the standards, but the remaining one dropped out and lost contact.Conclusions:Among physical examinees during medical selection of flying cadets in South China, thalassemia is the leading cause of morphological abnormalities of microcytic hypochromic erythrocytes. Results of iron metabolism, Hb electrophoresis, and HbH inclusion body detection can help identify thalassemia and iron deficiency quickly. Cases of morphological abnormalities of microcytic hypochromic erythrocytes caused by iron deficiency can be considered eligible for selection after Hb levels return to normal following iron supplementation therapy. Students who are diagnosed with thalassemia with Hb<130 g/L can be determined as ineligible. Such rapid identification can facilitate the medical selection of the above 2 types of students.

Parkinson's disease (PD) is a kind of prevalent neurodegenerative disorders characterized by motor symptoms such as bradykinesia, tremor and muscle rigidity, as well as non-motor symptoms such as neuropsychiatric symptoms, autonomic dysfunction and sleep-wake disorders; these symptoms seriously affect the quality of life of patients. The current diagnosis and treatment as well as long-term management still face some deficiencies, such as lack of highly sensitive biomarkers for early diagnosis, relatively subjective clinical comprehensive assessment, individualized treatment strategies mainly formulated based on subjective cognition and clinical experience of physicians, and absence of long-term management data. In recent years, with the rapid development of artificial intelligence (AI), it has demonstrated significant application potential and value in diagnosis, treatment, and long-term management of PD. This article reviews the recent advances of AI in the above-mentioned fields of PD, with the aim of providing references for improving clinical diagnosis, treatment, and long-term management of PD.

Objective To study the effect of intra-aortic balloon pump(IABP)in the therapy of ST-segment-elevation myocardial infarction(STEMI)patients complicated with ventricular septal rupture(VSR).Methods A retrospective analysis was performed on 35 STEMI patients complicated with VSR.Those patients were admitted in Yan'an Hospital Affiliated to Kunming Medical University from January 2019 to June 2023.Patients were divided into the combine-treated group(20 cases)and the drug-treated group(15 cases)according to the therapeutic strategies.The combine-treated group received IABP implantation and drug therapy,and the drug-treated group only received drug therapy.The clinical characteristics,hemodynamic and cardiac function improvement and mortality were evaluated.Hemodynamic and cardiac function improvement were compared between the two groups.Results There were no statistically significant differences in age,male proportion and size of VSR between the two groups(P>0.05).In the combine-treated group,the average heart rate,the average arterial blood pressure,central venous pressure,the LVEF value of cardiac ultrasound,pleural effusion,B-Line of lung,the level of B-type natriuretic peptide(BNP),the level of serum creatinine and the level of serum lactic acid were improved at 72 h after IABP use(all P<0.05).All these indicators got worse in the drug-treated group.The mortality rate of the combine-treated group was markedly lower than that of the drug-treated group(P<0.05).The mortality rate of patients who received IABP implantation within 72 h after VSR was lower than that of patients who received IABP implantation beyond 72 h after VSR.Conclusion For patients with AMI complicated with VSR,implantation of IABP can significantly improve hemodynamics,cardiac function and reduce mortality.

Objective To investigate the clinical significance of neutrophil-to-lymphocyte ratio(NLR),systemic immune-inflammatory index(SII),systemic inflammation response index(SIRI),and aggregate index of systemic inflammation(AISI)in chronic kidney disease(CKD)patients complicated with heart failure.Methods This study enrolled 190 CKD patients complicated with heart failure(case group)and 30 CKD patients without heart failure(control group)who treated in the outpatient and inpatient departments of Wenling Hospital of Traditional Chinese Medicine from January 2022 to December 2024.Differences in NLR,SII,SIRI,and AISI between the two groups were compared,and the relationship between these inflammatory markers and traditional Chinese medicine(TCM)syndrome types in CKD patients complicated with heart failure was analyzed.Logistic regression analysis and receiver operating characteristic(ROC)curve were used for evaluating the predictive efficacy of NLR,SII,SIRI,and AISI for illness severity of CKD complicated with heart failure.Results(1)The levels of NLR,SII,SIRI,and AISI in the case group were significantly higher than those in the control group(P＜0.01).(2)In CKD patients complicated with heart failure,NLR,SII,SIRI,and AISI were positively correlated with N-terminal pro-brain natriuretic peptide(NT-proBNP)levels(P＜0.01).(3)Among the CKD patients complicated with heart failure of fundamentally deficiency syndromes,spleen-kidney yang deficiency syndrome was the most prevalent,followed by spleen-kidney qi-yin deficiency syndrome,spleen-kidney qi deficiency syndrome,and yin-yang deficiency syndrome.Among the CKD patients complicated with heart failure of incidentally excess syndromes,blood stasis syndrome was the most common,followed by damp-heat syndrome,urinary toxin retention syndrome,and water-damp syndrome.(4)In CKD patients complicated with heart failure of fundamentally deficiency syndromes,NLR,SII,SIRI,and AISI levels ranked in the decreasing sequence in the syndromes of yin-yang deficiency,spleen-kidney yang deficiency,spleen-kidney qi-yin deficiency,and spleen-kidney qi deficiency;in the patients with incidentally excess syndromes,the levels ranked in the decreasing sequence in urinary toxin retention,damp-heat syndrome,blood stasis syndrome,and water-damp syndrome(P＜0.05).(5)Multivariate logistic regression identified NLR,SII,SIRI,and AISI as independent risk factors for illness severity of CKD complicated with heart failure(P＜0.01).(6)ROC curve analysis demonstrated high values of NLR,SII,SIRI,and AISI in differentiating illness severity of CKD complicated with heart failure(P＜0.01).Conclusion Inflammatory markers of NLR,SII,SIRI,and AISI exhibit significant correlation with illness severity of CKD complicated with heart failure,suggesting their potentiality as biological markers for TCM syndrome differentiation and disease progression assessment in this population.

Objective To investigate the correlation between insulin resistance markers[triglyceride-glucose(TyG)index],inflammatory indicators[neutrophil-to-lymphocyte ratio(NLR),C-reactive protein(CRP)],and traditional Chinese medicine(TCM)syndromes in patients with diabetic kidney disease(DKD)complicated by carotid atherosclerosis(CAS).Methods This retrospective study enrolled 300 DKD patients with CAS(case group)and 30 DKD patients without CAS(control group).Differences in TyG index,NLR,and CRP levels were compared between groups.The relationships between these markers and carotid intima-media thickness(IMT)/plaque area were analyzed,along with their variations across TCM syndromes.Logistic regression and receiver operating characteristic(ROC)curve analyses were performed to evaluate the predictive value of TyG index,NLR,and CRP for plaque stability and prognosis.Results(1)The TyG index,NLR,and CRP levels in patients with DKD and CAS were significantly higher than those in patients with DKD alone(P＜0.01).(2)The TyG index,NLR,and CRP were significantly positively correlated with IMT and plaque area(P＜0.01).(3)In patients with DKD combined with CAS,the TyG index,NLR,and CRP levels in those with unstable plaques were significantly higher than those with stable plaques(P＜0.01).(4)Among the distribution of TCM syndromes in patients with DKD combined with CAS,the qi and yin deficiency syndrome had the highest proportion(33.33％),followed by spleen and kidney yang deficiency syndrome(28.67％),yin and yang deficiency syndrome(22.00％),and turbid toxin and stasis obstruction syndrome(16.00％).(5)Among patients with DKD and CAS,the TyG index,NLR,and CRP levels in patients with different TCM syndromes decreased in the following order:turbid toxin and stasis obstruction syndrome,yin and yang deficiency syndrome,spleen-kidney yang deficiency syndrome,and qi and yin deficiency syndrome.(6)Logistic regression analysis results showed that TyG index,NLR,and CRP levels were closely associated with plaque stability in patients with DKD combined with CAS(P＜0.05 or P＜0.01).(7)ROC analysis showed that these markers have high prognostic value in DKD-CAS(P＜0.01).Conclusion TyG index,NLR,and CRP may serve as potential biomarkers for TCM syndrome differentiation and prognosis assessment in DKD-CAS.

Objective:To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods:A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children′s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results:A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children′s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant ( t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion:SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.

Magnetic resonance angiography(MRA)is a non-invasive imaging technique used to observe blood vessels.Quantitative analysis of MRA images enables visualization of vascular pathways,condition,and blood flow dynamics,which is essential for diagnosing vascular diseases such as vascular lesions,stenosis,and occlusions.Vessel segmentation serves as the fundamental basis for quantitative vascular analysis.However,the complex morphology of vessels,difficulties in labeling,and scarcity of accurate 3D vascular annotations pose significant challenges for MRA-based vessel segmentation.A strategy of selectively occluding vessels during model training is proposed to enhance the algorithm's capacity to capture the topological structure of blood vessels,thereby improving the continuity of vessel segmentation results.Additionally,a Refine network is incorporated to refine the binary segmentation results of the segmentation network,thereby further improving segmentation accuracy.Model training and testing are carried out using 42 cases of 3D MRA data from the public MIDAS dataset.For the test set,the 3D U-Net baseline model with vessel occlusion strategy shows a β0 Error of 1.2742±0.2103 and a β1 Error of 0.3393±0.0818,respectively,which are 0.1136 and 0.0280 lower than the baseline.The model integrating vessel occlusion strategy and Refine network achieves an average Dice score of 0.7105±0.0125,which is 0.0028 higher than the baseline.These results demonstrate that the proposed method effectively improves both vascular connectivity and segmentation accuracy.

Magnetic resonance angiography(MRA)is a non-invasive imaging technique used to observe blood vessels.Quantitative analysis of MRA images enables visualization of vascular pathways,condition,and blood flow dynamics,which is essential for diagnosing vascular diseases such as vascular lesions,stenosis,and occlusions.Vessel segmentation serves as the fundamental basis for quantitative vascular analysis.However,the complex morphology of vessels,difficulties in labeling,and scarcity of accurate 3D vascular annotations pose significant challenges for MRA-based vessel segmentation.A strategy of selectively occluding vessels during model training is proposed to enhance the algorithm's capacity to capture the topological structure of blood vessels,thereby improving the continuity of vessel segmentation results.Additionally,a Refine network is incorporated to refine the binary segmentation results of the segmentation network,thereby further improving segmentation accuracy.Model training and testing are carried out using 42 cases of 3D MRA data from the public MIDAS dataset.For the test set,the 3D U-Net baseline model with vessel occlusion strategy shows a β0 Error of 1.2742±0.2103 and a β1 Error of 0.3393±0.0818,respectively,which are 0.1136 and 0.0280 lower than the baseline.The model integrating vessel occlusion strategy and Refine network achieves an average Dice score of 0.7105±0.0125,which is 0.0028 higher than the baseline.These results demonstrate that the proposed method effectively improves both vascular connectivity and segmentation accuracy.

Objective:To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods:A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children′s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results:A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children′s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant ( t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion:SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.