BACKGROUND: The clinical impact of post-percutaneous coronary intervention (PCI) quantitative flow ratio (QFR) in patients treated with PCI for chronic total occlusion (CTO) was still undetermined. METHODS: All CTO vessels treated with successful anatomical PCI in patients from PANDA III trial were retrospectively measured for post-PCI QFR. The primary outcome was 2-year vessel-oriented composite endpoints (VOCEs, composite of target vessel-related cardiac death, target vessel-related myocardial infarction, and ischemia-driven target vessel revascularization). Receiver operator characteristic curve analysis was conducted to identify optimal cutoff value of post-PCI QFR for predicting the 2-year VOCEs, and all vessels were stratified by this optimal cutoff value. Cox proportional hazards models were employed to calculate the hazard ratio (HR) with 95% CI. RESULTS: Among 428 CTO vessels treated with PCI, 353 vessels (82.5%) were analyzable for post-PCI QFR. 31 VOCEs (8.7%) occurred at 2 years. Mean value of post-PCI QFR was 0.92 ± 0.13. Receiver operator characteristic curve analysis shown the optimal cutoff value of post-PCI QFR for predicting 2-year VOCEs was 0.91. The incidence of 2-year VOCEs in the vessel with post-PCI QFR < 0.91 (n = 91) was significantly higher compared with the vessels with post-PCI QFR ≥ 0.91 (n = 262) (22.0% vs. 4.2%, HR = 4.98, 95% CI: 2.32-10.70). CONCLUSIONS Higher post-PCI QFR values were associated with improved prognosis in the PCI practice for coronary CTO. Achieving functionally optimal PCI results (post-PCI QFR value ≥ 0.91) tends to get better prognosis for patients with CTO lesions.

Objective This study aimed to explore the correlation between abnormal hand features and coronary atherosclerotic heart disease(CHD)to provide clinical data support for digitalized traditional Chinese medicine(TCM)hand diagnosis.Methods A palm key point prediction algorithm was used to automatically capture and collect detailed features of the palm and nails through image analysis and data mining using the hand diagnosis information collection technology based on the NVIDIA Jetson platform and Qt framework.A total of 438 cardiac patients who underwent coronary artery computed tomography angiography(CACTA)in the Department of Cardiology,Dongzhimen Hospital,Beijing University of Chinese Medicine,from December 2023 to April 2024 were included and divided into CHD(148 cases)and non-CHD groups(290 cases)based on the CACTA results.The hand features of the two groups were compared,and abnormal hand features associated with CHD were screened using random forest analysis as well as univariate and multivariate logistic regression analyses.Results Based on the results of univariate logistic regression and random forest analyses,a set of hand-related features associated with CHD were identified and subsequently included in the multivariate logistic regression analysis.These features included the morphology of the thenar eminence,the wrinkles of the thenar eminence,nail shape,nail texture,and the length of the blood vessel in the middle finger.Multivariate logistic regression analysis revealed that hypertrophic thenar eminence[odds ratio(OR):3.049,95%confidence interval(CI):1.430-6.503,P=0.004],presence of wrinkles on the thenar eminence(OR:2.206,95%CI:1.119-4.348,P=0.022),presence of gray-black vertical stripes on the nails(OR:1.981,95%CI:1.173-3.347,P=0.011),uneven nail surface(OR:3.130,95%CI:1.822-5.378,P<0.001),and inward-bending nail surface(OR:5.727,95%CI:1.812-18.102,P=0.003)were positively associated with CHD.In contrast,the blood vessel in the middle finger longer than 1/3 of the phalanx was negatively associated with CHD(OR:0.405,95%CI:0.234-0.702,P=0.001).Conclusion Certain hand features are significantly associated with CHD,providing the valuable clinical data to support for the digitalization of TCM hand diagnosis.

Objective To explore the objective facial appearance characteristics of patients with coronary heart disease(CHD).Methods From April 7,2019 to December 1,2022,313 patients with CHD were recruited from Dongzhimen Hospital,Beijing University of Chinese Medicine,Dongfang Hospital,Beijing University of Chinese Medicine,and the First Affiliated Hospital of Hunan University of Chinese Medicine,together with 293 healthy controls.Standardized facial images were obtained using the tongue-face diagnostic instrument.The face was divided into six regions:the forehead,left cheek,right cheek,nose,lips,and chin.Nine color parameters were extracted from each region,including red(R),green(G),blue(B),hue(H),saturation(S),value(V),lightness(L),red-green axis(a),and yellow-blue axis(b).Comparisons between groups were performed.Results Compared with the healthy group,in the forehead region,values of R,S,V,a,and b were higher in the coronary heart disease group,whereas B was lower(P<0.05);in the left cheek,nose,and chin regions,R,G,B,V,and L decreased,whereas S,a,and b increased(P<0.05);in the right cheek region,R,G,B,H,V,and L decreased,while S,a,and b increased(P<0.05);in the lips region,R,G,B,H,V,L,and a decreased,whereas S and b increased(P<0.05).Conclusion Compared with healthy individuals,patients with CHD present with a darker,more saturated facial complexion with reduced brightness,overall manifesting as"dark red complexion"and"dense but not bright color,"suggesting the pathogenesis of qi and blood circulation stagnation and internal blood stasis retention.The objective expression of facial features may have greater application value in syndrome differentiation and auxiliary diagnosis in traditional Chinese medicine.

Objective To observe the value of MR 3D-T1WI and T2WI radiomics for diagnosing early and middle stage Parkinson disease(PD).Methods A total of 96 patients with early or middle stage PD(Hoehn-Yahr[H-Y]stage≤2.5)and 96 matched healthy adults were retrospectively collected and divided into training set(n=135,including 67 cases of PD and 68 healthy adults)and validation set(n=57,including 28 cases of PD and 29 healthy adults)at the ratio of 7∶3.The optimal radiomics features of left red nucleus(LRN),right red nucleus(RRN),left substantia nigra(LSN)and right substantia nigra(RSN)were extracted and screened from cranial 3D-T1WI and T2WI in training set.Then radiomics models of single MR sequence and combined MR sequences were constructed,respectively,the radiomics scores(Radscore)were obtained,the diagnostic efficacy of each model for diagnosing early and middle stage PD was validated using validation set,and the correlations of Radscore of each model and clinical scale scores of PD patients were analyzed.Results Based on LRN,RRN,LSN and RSN on 3D-T1WI and T2WI,15,14,11 and 14,and 15,12,14 and 12 optimal radiomics features were obtained,respectively.Then models of single sequence,including LRN3D-T1W,I RRN3D-T1W,I LSN3D-T1W,I RSN3D-T1W,I LRNT2W,I RRNT2W,I LSNT2WI and RSNT2W,I as well as models of combined sequences,including LRN3D-T1WI+T2WI,RRN3D-T1WI+T2WI,LSN3D-T1WI+T2WI and RSN3D-T1WI+T2WI were constructed.The AUC of models in training and validation sets based on 3D-T1WI were 0.75-0.86,of models based on T2WI in training and validation sets were 0.82-0.90,while of combined models were 0.85-0.93.The Radscore of LRN3D-T1WI model in PD patients was negatively correlated with Hamilton depression scale(HAMD)and Hamilton anxiety scale(HAMA)scores(rs=-0.255,-0.242,P=0.011,0.016),while of RSNT2WI model was negatively correlated with HAMD score(rs=-0.254,P=0.010).Conclusion 3D-T1WI and T2WI radiomics could be used to diagnose early and middle stage PD.

Objective:To investigate the clinical characteristics and independent risk factors of severe disease in patients with anti-nuclear matrix protein (NXP) 2 antibody-positive juvenile dermatomyositis (JDM).Methods:A retrospective cohort study was conducted, including 219 anti-NXP2 antibody-positive JDM patients admitted to 23 children′s hospitals across China from July 2011 to July 2023. Patients were classified into severe and non-severe groups based on classification criteria for severe dermatomyositis. Demographic characteristics, clinical manifestations, and laboratory parameters were compared between the 2 groups using independent sample t-test, Mann-Whitney U test, or χ2 test. Univariate and multivariate Logistic regression analyses were performed to identify risk factors for severe disease. The receiver operating characteristic curve was employed to calculate optimal cut-off values. Results:Among the 219 patients, 108 were male and 111 were female, with an age at onset of 6.3 (3.5, 9.4) years. The severe group comprised 69 patients, and the non-severe group 150 patients. The severe group had significantly higher rates of fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, as well as elevated levels of ferritin-to-albumin ratio (FAR), creatine kinase (CK), aspartate aminotransferase (AST), and lactate dehydrogenase (LDH) (all P<0.05). Multivariate analysis identified anti-Ro52 antibody positivity ( OR=13.26, 95% CI 1.37-128.29) and elevated FAR ( OR=1.90, 95% CI 1.09-2.31) as independent risk factors for severe anti-NXP2 antibody-positive JDM (both P<0.05). Receiver operating characteristic curve analysis revealed that a FAR cutoff value of 6.82 predicted severe disease with an area under the curve of 0.87 (95% CI 0.81-0.94, P<0.001), sensitivity of 0.85, and specificity of 0.70. All patients received glucocorticoid therapy, and the severe group received higher proportions of steroid pulse therapy, cyclophosphamide, mycophenolate mofetil, intravenous immunoglobulin, biologics, and adjuvant treatments compared to the non-severe group (all P<0.05). In terms of outcomes, 2 patients (2.9%) in the severe group died (due to neurological involvement and intestinal perforation, respectively), while the remaining patients achieved complete clinical response or remission. All patients in the non-severe group achieved remission. Conclusions:The primary clinical features of anti-NXP2 antibody-positive JDM included fever, heliotrope rash, subcutaneous edema, periorbital edema, anti-Ro52 antibody positivity, and elevated levels of CK, AST, LDH, and FAR. Furthermore, anti-Ro52 antibody positivity and a FAR>6.82 were identified as independent risk factors.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective To investigate the expression of myelin transcription factor 1-like(MYT1L)during amyotrophic lateral sclerosis(ALS)progression and its association with neuronal degeneration through bioinformatics analysis combined with in vivo and in vitro experiments.Methods Bioinformatics analysis of the GSE106803 dataset from the Gene Expression Omnibus(GEO)database revealed significant down-regulation of MYT1L in spinal cords of ALS transgenic mice carrying the human superoxide dismutase 1 mutant gene(hSOD1G93A)compared to the wild-type(WT)mice.hSOD1G93A transgenic mice and their WT littermates were selected to analyze MYT1L mRNA and protein changes in spinal cord tissues at different disease stages using Real-time PCR and Western blotting.Double immunofluorescent staining was used to determine the distribution and cellular localization of MYT1L in the spinal cord of mice at the middle stage of the disease.An ALS cellular model was established using hSOD1G93A mutant NSC34 cells,with hSOD1WT NSC34 cells as controls.MYT1L expression and distribution were assessed in these cells via Real-time PCR,Western blotting,and immunofluorescent staining.Based on the GSE76220 dataset from the GEO database,differentially expressed genes(DEGs)between MYT1L high-and low-expression groups in lumbar spinal motor neurons of ALS patients were identified,followed by Gene Ontology(GO)functional enrichment analysis.MYT1L overexpression was induced in the ALS cellular model to evaluate alterations in cell viability and neurite outgrowth.Results In the GSE106803 dataset,MYT1L expression was significantly down-regulated in the spinal cord of ALS mice.Animal experiments confirmed progressive reductions in MYT1L mRNA and protein levels in spinal cord tissues of ALS mice during mid-and late-disease stages.Compared to the WT group,MYT1L expression decreased in motor neurons of the lumbar spinal cord gray matter anterior horn in ALS mice,while it increased in astrocytes.In vitro,hSOD1G93Amutant NSC34 cells exhibited significantly reduced MYT1L expression than controls,with MYT1L localized to both the cytoplasm and nucleus.DEGs between MYT1L high-and low-expression groups in lumbar spinal cord motor neurons of ALS patients(GSE76220 dataset)were enriched in synaptic-related functions through GO analysis.Overexpression of MYT1L in hSOD1G93A mutant NSC34 cells enhanced cell viability and promoted neurite outgrowth.Conclusion Aberrantly low expression of MYT1L is closely associated with ALS pathogenesis.Overexpression of MYT1L promotes neurite growth and exerts protective effects on ALS motor neurons,suggesting its therapeutic potential.

Objective To observe the value of MR 3D-T1WI and T2WI radiomics for diagnosing early and middle stage Parkinson disease(PD).Methods A total of 96 patients with early or middle stage PD(Hoehn-Yahr[H-Y]stage≤2.5)and 96 matched healthy adults were retrospectively collected and divided into training set(n=135,including 67 cases of PD and 68 healthy adults)and validation set(n=57,including 28 cases of PD and 29 healthy adults)at the ratio of 7∶3.The optimal radiomics features of left red nucleus(LRN),right red nucleus(RRN),left substantia nigra(LSN)and right substantia nigra(RSN)were extracted and screened from cranial 3D-T1WI and T2WI in training set.Then radiomics models of single MR sequence and combined MR sequences were constructed,respectively,the radiomics scores(Radscore)were obtained,the diagnostic efficacy of each model for diagnosing early and middle stage PD was validated using validation set,and the correlations of Radscore of each model and clinical scale scores of PD patients were analyzed.Results Based on LRN,RRN,LSN and RSN on 3D-T1WI and T2WI,15,14,11 and 14,and 15,12,14 and 12 optimal radiomics features were obtained,respectively.Then models of single sequence,including LRN3D-T1W,I RRN3D-T1W,I LSN3D-T1W,I RSN3D-T1W,I LRNT2W,I RRNT2W,I LSNT2WI and RSNT2W,I as well as models of combined sequences,including LRN3D-T1WI+T2WI,RRN3D-T1WI+T2WI,LSN3D-T1WI+T2WI and RSN3D-T1WI+T2WI were constructed.The AUC of models in training and validation sets based on 3D-T1WI were 0.75-0.86,of models based on T2WI in training and validation sets were 0.82-0.90,while of combined models were 0.85-0.93.The Radscore of LRN3D-T1WI model in PD patients was negatively correlated with Hamilton depression scale(HAMD)and Hamilton anxiety scale(HAMA)scores(rs=-0.255,-0.242,P=0.011,0.016),while of RSNT2WI model was negatively correlated with HAMD score(rs=-0.254,P=0.010).Conclusion 3D-T1WI and T2WI radiomics could be used to diagnose early and middle stage PD.

Objective This study aimed to explore the correlation between abnormal hand features and coronary atherosclerotic heart disease(CHD)to provide clinical data support for digitalized traditional Chinese medicine(TCM)hand diagnosis.Methods A palm key point prediction algorithm was used to automatically capture and collect detailed features of the palm and nails through image analysis and data mining using the hand diagnosis information collection technology based on the NVIDIA Jetson platform and Qt framework.A total of 438 cardiac patients who underwent coronary artery computed tomography angiography(CACTA)in the Department of Cardiology,Dongzhimen Hospital,Beijing University of Chinese Medicine,from December 2023 to April 2024 were included and divided into CHD(148 cases)and non-CHD groups(290 cases)based on the CACTA results.The hand features of the two groups were compared,and abnormal hand features associated with CHD were screened using random forest analysis as well as univariate and multivariate logistic regression analyses.Results Based on the results of univariate logistic regression and random forest analyses,a set of hand-related features associated with CHD were identified and subsequently included in the multivariate logistic regression analysis.These features included the morphology of the thenar eminence,the wrinkles of the thenar eminence,nail shape,nail texture,and the length of the blood vessel in the middle finger.Multivariate logistic regression analysis revealed that hypertrophic thenar eminence[odds ratio(OR):3.049,95%confidence interval(CI):1.430-6.503,P=0.004],presence of wrinkles on the thenar eminence(OR:2.206,95%CI:1.119-4.348,P=0.022),presence of gray-black vertical stripes on the nails(OR:1.981,95%CI:1.173-3.347,P=0.011),uneven nail surface(OR:3.130,95%CI:1.822-5.378,P<0.001),and inward-bending nail surface(OR:5.727,95%CI:1.812-18.102,P=0.003)were positively associated with CHD.In contrast,the blood vessel in the middle finger longer than 1/3 of the phalanx was negatively associated with CHD(OR:0.405,95%CI:0.234-0.702,P=0.001).Conclusion Certain hand features are significantly associated with CHD,providing the valuable clinical data to support for the digitalization of TCM hand diagnosis.

Objective To explore the objective facial appearance characteristics of patients with coronary heart disease(CHD).Methods From April 7,2019 to December 1,2022,313 patients with CHD were recruited from Dongzhimen Hospital,Beijing University of Chinese Medicine,Dongfang Hospital,Beijing University of Chinese Medicine,and the First Affiliated Hospital of Hunan University of Chinese Medicine,together with 293 healthy controls.Standardized facial images were obtained using the tongue-face diagnostic instrument.The face was divided into six regions:the forehead,left cheek,right cheek,nose,lips,and chin.Nine color parameters were extracted from each region,including red(R),green(G),blue(B),hue(H),saturation(S),value(V),lightness(L),red-green axis(a),and yellow-blue axis(b).Comparisons between groups were performed.Results Compared with the healthy group,in the forehead region,values of R,S,V,a,and b were higher in the coronary heart disease group,whereas B was lower(P<0.05);in the left cheek,nose,and chin regions,R,G,B,V,and L decreased,whereas S,a,and b increased(P<0.05);in the right cheek region,R,G,B,H,V,and L decreased,while S,a,and b increased(P<0.05);in the lips region,R,G,B,H,V,L,and a decreased,whereas S and b increased(P<0.05).Conclusion Compared with healthy individuals,patients with CHD present with a darker,more saturated facial complexion with reduced brightness,overall manifesting as"dark red complexion"and"dense but not bright color,"suggesting the pathogenesis of qi and blood circulation stagnation and internal blood stasis retention.The objective expression of facial features may have greater application value in syndrome differentiation and auxiliary diagnosis in traditional Chinese medicine.