Objective:To explore the clinical and genetic etiology of a Chinese pedigree affected with type 2 Long QT syndrome (LQTS).Methods:A pedigree with type 2 LQTS presented at Fuwai Central China Cardiovascular Hospital on August 23, 2019 was selected as the study subject. Peripheral blood samples were collected from the proband and her parents. Following extraction of genomic DNA, whole exome sequencing (WES) was carried out for the proband, and candidate variant was screened through functional annotation and protein-protein interaction (PPI) analysis. Sanger sequencing was conducted to verify the pathogenicity of candidate variant. This study was approved by Medical Ethics Committee of the Fuwai Central China Cardiovascular Hospital (Ethics No. 2019-15).Results:WES revealed that the proband has harbored a missense variant of the KCNH2 gene, namely c. 1478A>G (p.Tyr493Cys), which was confirmed by Sanger sequencing to have inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_supporting+ PM5+ PP3+ PP4). Conclusion:The KCNH2 gene c. 1478A>G (p.Tyr493Cys) variant probably underlay the type 2 LQTS in this pedigree.

Although the artificial intelligence diagnosis technology of traditional Chinese medicine(TCM)is constantly developing,the existing intelligent syndrome differentiation models can only output the diagnosis results and cannot display the reasoning process of TCM diagnosis.They do not have the interpretability of TCM diagnostic knowledge and are difficult to truly reflect the process of TCM's syndrome differentiation.This can be a long-standing problem that has puzzled the academic community.This article elaborates on the development process and technical characteristics of intelligent diagnosis in traditional Chinese medicine,explores multiple key technologies and bottlenecks in current research in reasoning of TCM's Syndrome Differentiation,and factors affecting diagnosis.A novel intelligent diagnosis model architecture that can infer and explain the process of TCM'ssyndrome differentiation was proposed,and the implementation process of the model and algorithm was explained,and detailed data instance analysis was conducted.This article will provide new methods for the development of intelligent syndrome differentiation of TCM and open up new research ideas for clinical decision-making assistance of TCM.

The World Health Organization (WHO) classification serves as the internationally recognized standard for diagnosing and classifying hematopoietic and lymphoid tissue tumors(WHO-HEAM). Since 2001, it has undergone multiple upgrades and revisions, updating, clarifying, and refining previous tumor diagnostic and classification standards while incorporating numerous new genetic and molecular biological subtypes. In 2022, two classification proposals emerged due to a wealth of clinical and scientific research results: the fifth edition of the WHO hematopoietic and lymphoid tissue classification (WHO-HAEM5), published in Leukemia journal; and the International Consensus Classification (ICC), published in Blood journal. These two schemes differ in their approach to classifying hematopoietic and lymphoid tissue tumors, posing challenges for clinical laboratory diagnosis and treatment.

Methods: The median sagittal diameter and transverse diameter of the spinal canal from C2 to C7 were measured on CT images. The ratio of the median sagittal diameter to the transverse diameter was calculated. Accordingly, the spinal canal shape of each segment was classified into four, and the specific criteria of lunar phase classification were determined through linear discriminant analysis based on the ratio of the median sagittal diameter to the transverse diameter. The inter-rater reliability of the classification was explored using Kappa coefficients. Finally, the morphology of the different segments of the cervical spinal canal in healthy volunteers was revised and compared. Results: According to the ratio of the median sagittal diameter and the transverse diameter of the cervical spinal canal, the lunar phase classification of the cervical bony spinal canal was determined as follows: full-moon >0.65, 0.55< convex-moon ≤0.65, 0.46≤ quarter-moon ≤0.55, and residual-moon <0.46. The Kappa values of C2–C7 were 0.851, 0.958, 0.823, 0.927, 0.793, and 0.946, and the Kappa value of all C2–C7 segments was 0.854 that mainly presented two forms of full-moon (76.5%) and convex-moon (23.0%). A quarter-moon spinal canal was mainly distributed in C3, C4, C5, and C6; a residual-moon spinal canal was mainly distributed in C4 and C5; and the morphological distribution of C4 and C5 were similar (p>0.05). The frequency of the spinal canal of the residual-moon type was the highest, and the full-moon (6.5%) and residual-moon (7.5%) types of C7 were rare. Conclusions The morphological classification of the cervical spinal canal was established to present anatomical variations. The classification showed good inter-rater reliability.

Background/Aims: The aim of this study was to analyze the chronological changes in postoperative complications in surgical ulcerative colitis patients over the past decade in China and to investigate the potential parameters that contributed to the changes. Methods: Ulcerative colitis patients who underwent surgery during 2008–2017 were retrospectively enrolled from 13 hospitals in China. Postoperative complications were compared among different operation years. Risk factors for complications were identified by logistic regression analysis. Results: A total of 446 surgical ulcerative colitis patients were analyzed. Fewer short-term complications (24.8% vs. 41.0%, P=0.001) and more laparoscopic surgeries (66.4% vs. 25.0%, P<0.001) were found among patients who received surgery during 2014–2017 than 2008–2013. Logistic regression suggested that independent protective factors against short-term complications were a higher preoperative body mass index (odds ratio [OR], 0.870; 95% confidence interval [CI], 0.785–0.964; P=0.008), laparoscopic surgery (OR, 0.391; 95% CI, 0.217–0.705; P=0.002) and elective surgery (OR, 0.213; 95% CI, 0.067–0.675; P=0.009). The chronological decrease in short-term complications was associated with an increase in laparoscopic surgery. Conclusions Our data revealed a downward trend of short-term postoperative complications among surgical ulcerative colitis patients in China during the past decade, which may be due to the promotion of minimally invasive techniques among Chinese surgeons.

OBJECTIVETo demonstrate the clinical applicability of three-dimensional CT angiography by evaluating the anatomic features and variation of inferior mesenteric artery(IMA) and left colic artery(LCA) in order to provide reference to vessel ligation strategy in laparoscopic rectal cancer surgery.

METHODSClinical and image data of 123 patients receiving abdominal multislice CT at The Sixth Affiliated Hospital from 2014 to 2015 were retrospectively analyzed. The images were 3D-reconstructed with computer 3D CT angiography and arterial enhancement phase images were chosen for analysis. Linear distances from IMA root to abdominal aortic bifurcation and from LCA at IMA root level to IMA root were measured. Branch types of IMA, coursing pattern of LCA, and association between LCA and inferior mesenteric vein (IMV) site were summarized.

RESULTSOf 123 cases, 80 were males and 43 were females, mean age was (46.8±16.6) years, body weight was (57.7±10.4) kg, and BMI was (21.3±3.6) kg/m. The average distance from IMA root to abdominal aortic bifurcation was (42.5±7.9) mm, and this distance was closely associated with body weight (OR=4.771, 95%CI: 1.398 to 16.283, P=0.013). Longer distance tended to appear in the heavier patients. LCA and sigmoid artery (SA) originating from same single IMA was found in 61(49.6%) cases; LCA and SA forking at same point in 35(28.5%) cases; LCA and SA coursing together and forking afterwards in 24(19.5%) cases, and LCA disappearing in 3(2.4%) cases. In 71(57.7%) patients, LCA ascended medial to the lateral border of left kidney, while in 16(13.0%) patients, LCA arranged below the inferior border of left kidney. When the LCA site was higher and the distance from LCA to IMA root was closer [distance from LCA to IMA root level was (24.2±9.9) mm, (30.0±15.2) mm and (66.6±12.3) mm, F=83.2, P<0.001]. At the level of IMA root, LCA located medial to IMV in 21(17.1%) cases, located just lateral to IMV in 54(43.9%) cases, and located lateral and ascended far away from IMV in 48(39.0%) cases.

CONCLUSION3D-CT angiography is non-invasive, efficient and accurate in evaluating coursing features and variation of IMA and its branches, which can provide important reference to the surgeons, promising laparoscopic surgery smooth and safe.

Objective To observe the anti-tumor effect and mechanism of curcumin on triple-negative breast cancer mouse model.Methods Human breast cancer cells MDA-MB-231 were inoculated to the chest subcutaneous fat pad of mice(about 1 million cells in 0.1 mL cell suspension).At day 2 after tumor inoculation,nodules were seen at inoculation site (tumor formation rate being 100％).Forty successfully-modeled mice were randomly divided into low-,middle-,and high-dose curcumin groups (10,20,40 mg/kg) and model control group,10 mice in each group.The medication lasted for 30 continuous days.After medication,the blood was taken out from the orbital venous plexus,and the serum was separated for the detection of tumor necrosis factor alpha (TNF-α) and interleukin-6 (IL-6) contents.Spleen was separated for the calculation of organ coefficient,tumor mass was weighed,and the expression levels of Bcl-2 and caspase-3 were detected by Western blotting method.Results Compared with the model control group,caspase-3 expression level was significantly increased in the three curcumin groups(P ＜ 0.05 or P ＜ 0.01),but the contents of TNF-α and IL-6,tumor weight,spleen index and Bcl-2 expression were significantly decreased(P ＜ 0.05 or P ＜ 0.01).Conclusion Curcumin has inhibitory effect on triple-negative breast cancer mouse model through promoting the apoptosis of breast cancer cells.

OBJECTIVETo determine the indications of colonoscopic screening for Crohn's disease in patients with fistula-in-ano.

METHODSClinical data of 302 patients with perianal fistula who received colonoscopy examination from January 2010 to December 2013 in the Department of Colorectal Surgery, The Sixth Affiliated Hospital, Sun Yat-sen University were analyzed retrospectively. Parameters for differentiating perianal Crohn's disease from nonspecific fistulae were screened by logistic regression analysis. A regression mathematical model was established for the prediction of perianal Crohn's disease.

RESULTSA total of 302 patients received colonoscopy examination, and Crohn's disease was found in 16 patients (CD group). Results of univariate analysis on 26 parameters of clinical manifestation, laboratory and radiological examination revealed that differences in 11 clinical parameters between the CD group and non-CD group were statistically significant(all P<0.05), including age, BMI, abdominal pain, non-specific symptoms, multiple fistula, complex anal fistula, neutrophil count, platelet count, activated partial thromboplastin time, hemoglobin concentration and serum albumin concentration. Multivariate analysis revealed that age≤40 years (OR=14.464, 95% CI: 1.143-183.053, P=0.039), BMI<24.0 kg/m(OR=8.220, 95% CI:1.005-67.200, P=0.049), abdominal pain (OR=13.148, 95% CI: 1.110-155.774, P=0.041), complex anal fistula (OR=7.056, 95% CI:1.166-42.688, P=0.033) and elevated platelet count (OR=1.012, 95% CI: 1.004-1.0194, P=0.003) were independent risk factors for discovery of Crohn's disease by colonoscopy. Area under the ROC curve of the regression mathematical model based on factors mentioned above was 0.921, indicating that the model was highly predictive. The sensitivity and specificity of this model was 81.3% and 86.7% respectively when the optimal diagnostic cut-off point was established at 0.856.

CONCLUSIONSParameters that predict Crohn's disease in patients with perianal fistula include age, BMI, abdominal pain, classification of fistula and platelet count. Colonoscopy is recommended for patients at high risk.

Abdominal Pain ; Adult ; Age Factors ; Body Mass Index ; Colonoscopy ; Crohn Disease ; blood ; complications ; diagnosis ; epidemiology ; Female ; Humans ; Leukocyte Count ; Male ; Middle Aged ; Multivariate Analysis ; Neutrophils ; Partial Thromboplastin Time ; Platelet Count ; ROC Curve ; Rectal Fistula ; blood ; complications ; Retrospective Studies ; Risk Factors ; Sensitivity and Specificity

OBJECTIVETo investigate the risk factors of early surgical intervention in Crohn's disease (CD) patients with spontaneous intra-abdominal abscess.

METHODSClinical data of 94 CD patients with spontaneous intra-abdominal abscess admitted to The Sixth Affiliated Hospital of Sun Yat-sen University between May 2008 and Dec 2015 were analyzed retrospectively. Univariate and multivariate analysis were applied to evaluate the early surgery risk of CD patients with spontaneous intra-abdominal abscess using logistic regression model.

RESULTSA total of 94 eligible patients were identified from our registry, including 70 males and 24 females. The mean age at the diagnosis of CD and at development of abscess was 28.4 years and 30.4 years old, respectively. The median duration of CD between the diagnosis and development of an abscess was 3 years. According to the Montreal classification, L3 (ileocolonic) was the most common disease location (81.9%) in these patients. Most of the patients(76.6%) developed a single abscess, while multiple abscesses were detected in 22 patients(23.4%). Forty-four patients(46.8%) underwent surgery within 60 days after hospitalization due to spontaneous intra-abdominal abscess complicating CD. Multivariate logistic regression analysis revealed that history of abdominal surgery(OR=3.23, 95%CI:1.12 to 9.31, P=0.030), concomitant intestinal stenosis (OR=3.52, 95%CI:1.26 to 9.85, P=0.017) and concomitant intestinal fistula (OR=4.31, 95%CI:1.25 to 14.80, P=0.020) were the independent risk factors of early surgical intervention, while enteral nutrition (OR=0.18, 95%CI:0.05 to 0.62, P=0.007) was the independent protective factor.

CONCLUSIONSNearly half of CD patients with spontaneous intra-abdominal abscess will undergo early surgical intervention. Patients with history of abdominal surgery, concomitant intestinal stenosis and concomitant intestinal fistula have higher risk of early surgical intervention, and appropriate application of enteral nutrition may reduce the risk.

Objective To explore the features of coronary artery morphological changes and left ventricular function indicators of resident population in plateau .Methods 50 plateau healthy adults and 50 plain‐and Dalian‐healthy volunteers completed coronary CTA examination .We measured the pipe diameter of left main coronary atery and right coronary artery and their branches ,respec‐tively .Furthermore ,SV and EF value of left ventricular cardiac function indexes and the wall thickening of free ventricular wall at left ventricular end systolic were measured .Results The average diameter of proximal right coronary of plain‐and Dalian‐healthy volun‐teers thicker than plateau group ,with statistical difference ;Other coronary artery branch did not exhibit any significant between‐group differences ;The two groups did not show significant between‐group differences with heart function indexes .Conclusion The body circulation system have adaptability and compensatory changes of resident population in plateau ,and their coronary artery mor‐phology and left ventricular function are as similar as plain people .