Abstract Modern western medicine typically focuses on treating specific symptoms or diseases, and traditional Chinese medicine (TCM) emphasizes the interconnections of the body’s various systems under external environment and takes a holistic approach to preventing and treating diseases. Phenomics was initially introduced to the field of TCM in 2008 as a new discipline that studies the laws of integrated and dynamic changes of human clinical phenomes under the scope of the theories and practices of TCM based on phenomics. While TCM Phenomics 1.0 has initially established a clinical phenomic system centered on Zhenghou (a TCM definition of clinical phenome), bottlenecks remain in data standardization, mechanistic interpretation, and precision intervention. Here, we systematically elaborates on the theoretical foundations, technical pathways, and future challenges of integrating digital medicine with TCM phenomics under the framework of “TCM phenomics 2.0”, which is supported by digital medicine technologies such as artificial intelligence, wearable devices, medical digital twins, and multi-omics integration. This framework aims to construct a closed-loop system of “Zhenghou–Phenome–Mechanism–Intervention” and to enable the digitization, standardization, and precision of disease diagnosis and treatment. The integration of digital medicine and TCM phenomics not only promotes the modernization and scientific transformation of TCM theory and practice but also offers new paradigms for precision medicine. In practice, digital tools facilitate multi-source clinical data acquisition and standardization, while AI and big data algorithms help reveal the correlations between clinical Zhenghou phenomes and molecular mechanisms, thereby improving scientific rigor in diagnosis, efficacy evaluation, and personalized intervention. Nevertheless, challenges persist, including data quality and standardization issues, shortage of interdisciplinary talents, and insufficiency of ethical and legal regulations. Future development requires establishing national data-sharing platforms, strengthening international collaboration, fostering interdisciplinary professionals, and improving ethical and legal frameworks. Ultimately, this approach seeks to build a new disease identification and classification system centered on phenomes and to achieve the inheritance, innovation, and modernization of TCM diagnostic and therapeutic patterns.

Objective:To investigate the current situation of the use of transjugular intrahepatic portosystemic shunt (TIPS) for portal hypertension, which should aid the development of TIPS in China.Methods:The China Portal Hypertension Alliance (CHESS) initiated this study that comprehensively investigated the basic situation of TIPS for portal hypertension in China through network research. The survey included the following: the number of surgical cases, main indications, the development of Early-TIPS, TIPS for portal vein cavernous transformation, collateral circulation embolization, intraoperative portal pressure gradient measurement, commonly used stent types, conventional anticoagulation and time, postoperative follow-up, obstacles, and the application of domestic instruments.Results:According to the survey, a total of 13 527 TIPS operations were carried out in 545 hospitals participating in the survey in 2021, and 94.1% of the hospital had the habit of routine follow-up after TIPS. Most hospitals believed that the main indications of TIPS were the control of acute bleeding (42.6%) and the prevention of rebleeding (40.7%). 48.1% of the teams carried out early or priority TIPS, 53.0% of the teams carried out TIPS for the cavernous transformation of the portal vein, and 81.0% chose routine embolization of collateral circulation during operation. Most of them used coils and biological glue as embolic materials, and 78.5% of the team routinely performed intraoperative portal pressure gradient measurements. In selecting TIPS stents, 57.1% of the hospitals woulel choose Viator-specific stents, 57.2% woulel choose conventional anticoagulation after TIPS, and the duration of anticoagulation was between 3-6 months (55.4%). The limitation of TIPS surgery was mainly due to cost (72.3%) and insufficient understanding of doctors in related departments (77.4%). Most teams accepted the domestic instruments used in TIPS (92.7%).Conclusions:This survey shows that TIPS treatment is an essential part of treating portal hypertension in China. The total number of TIPS cases is far from that of patients with portal hypertension. In the future, it is still necessary to popularize TIPS technology and further standardize surgical indications, routine operations, and instrument application.

Objective:To investigate the effect of pelvic floor muscle exercise (PFMT) combined with transcutaneous electrical nerve stimulation (TENS) on urinary incontinence after radical prostatectomy.Methods:A total of 120 patients with urinary incontinence after radical prostatectomy in Shuguang Hospital, Shanghai University of Traditional Chinese Medicine from July 2020 to June 2021 were retrospective selected and divided into control group and observation groupthe according to different treatment method, 60 cases in each group. The control group was treated with PFMT, and the observation group was treated with PFMT combined with TENS. Urodynamic indexes of 72 h urine pad usage, maximum urine flow rate, maximum cystometric capacity, maximum urethral closure pressure, abdominal leakage point pressure, ICI-Q-SF score and the clinical efficacy were compared between the two groups. Measurement data were expressed as mean ± standard deviation ( ± s), and t-test was used for comparison between groups; Chi-square test was used for comparison of enumeration data between groups. Results:After treatment, the 72 h urine urine pad usage in the observation group [(1.95±1.13) pieces] was lower than that in the control group [(6.28±2.47) pieces], and the difference was statistically significant ( P<0.05). After treatment, the maximum flow rate [(13.92±2.53) mL/s], maximum cystometric capacity [(338.72±19.22) mL], maximum urethral closure pressure [(69.75±5.04) cmH 2O], abdominal leakage point pressure [(90.56±5.26) cmH 2O] in observation group after treatment were better than those in control group [(11.48±2.18) mL/s, (325.81±18.63) mL, (65.29±4.78) cmH 2O, (83.58±5.29) cmH 2O], the difference were statistically significant ( P<0.05). After treatment, the ICI-Q-SF score of the observation group [(5.97±1.82) points] was lower than that of the control group [(10.95±2.64) points], and the difference was statistically significant ( P<0.05); the clinical effective rate of observation group (93.33%) was higher than that of control group (78.33%), and the difference was statistically significant ( P<0.05). Conclusion:PFMT combined with TENS is better than PFMT alone in the treatment of postoperative urinary incontinence after radical prostatectomy.

Objective:To identify the risk factors for premature proximal femur physeal closure (PPC) in children treated surgically for femoral neck fractures.Methods:Data of 106 children with an open triradiate cartilage who were treated surgically for a femoral neck fracture were retrospectively analyzed. Age, gender, laterality, mechanism of injury, the type of fracture, initial displacement, time to reduction, fixation method, whether the implant crossed the physeal plate, reduction method, reduction quality and development of femoral head avascular necrosis (AVN) were collected. PPC of the proximal femur was assessed through postoperative 6-12 months radiographs.Results:A total of 106 patients with an open triradiate cartilage were followed up, with an average duration of 20.4±13.3 months (range, 6-86 months). The overall rate of PPC following paediatric femoral neck fractures treated surgically was 36.8% (39/106). Among the 39 patients with PPC, 25 were males and 14 were females; the average age at the time of injury was 9.7±3.6 years (range, 3-15 years); 23 patients were involved in left hips and 16 were in right; the mechanisms of injury included motor vehicle accident in 5 fractures, falling injury in 21, sports-related injury in 12 and other causes in 1 fracture; two hips were Delbet type I, and 26 hips and 11 hips were Delbet type II and III, separately; type II and III of initial displacement were involved in 26 and 13 patients, separately; the mean duration from injury to surgery was 3.3±2.8 d (range, 1-14 d); 2 hips were treated with Kirschner wires, 35 hips with screw fixation, and the remaining 2 hips underwent screw and plate fixation; 2 hips had the hardware crossing the proximal femoral growth plate, and the remaining 37 hips didn’t; 15 hips were treated by closed reduction and internal fixation, and the other 24 hips underwent open reduction and internal fixation; anatomical reduction was achieved in 14 patients, acceptable reduction in 24 hips and unacceptable reduction in 1 hip; 24 hips developed AVN at the latest follow-up and the remaining 15 hips didn’t. Statistical analysis indicated that age ( t=3.875, P< 0.001), the severity of initial displacement ( Z=-2.118, P=0.034) and the rate of AVN ( χ2=42.280, P< 0.001) in patients with PPC were significantly higher than those in patients without; Logistic regression analysis confirmed age ( OR=1.288, P=0.011) and AVN ( OR=40.336, P< 0.001) as risk factors for PPC. ROC curve analysis indicated 10 years was the cut off age to significantly increase the rate of PPC. The rate of PPC in patients aged over 10 years (63.6%, 21/33) was significantly higher than that (24.7%, 18/73) in those aged less than 10 years ( χ2=14.848, P< 0.001). Conclusion:Age over 10 years and AVN are risk factors for PPC in children with femoral neck fractures treated surgically.

OBJECTIVE: To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements. METHODS: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH). RESULTS: The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3. CONCLUSION Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.
Child ; Chromosome Banding ; Chromosomes, Human, Y/genetics* ; DNA Copy Number Variations ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymorphism, Single Nucleotide ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development/genetics*

Objective To investigate whether metabolic pathway-related gene polymorphisms are associated with arterial plaque stability and their gene-gene interactions increase the risk of cerebral infarctions.Methods Totally 294 patients with atherothrombosis stroke admitted to the Department of Neurology, the Third Affiliated Hospital of Wenzhou Medical University from September 2010 to December 2012 were divided into a carotid vulnerable plaque group ( n=69 ) and a stable plaque group ( n=225 ) according to the results of carotid B-mode ultrasonography.A total of 282 healthy volunteers excluded carotid plaque and stroke were enrolled as well.Genetic polymorphisms of ALOX5AP and CYP3A5, CYP2C9*2, CYP2C9*3 and EPHX2 were genotyped using polymerase chain reaction and mass spectrometry analysis.The SPSS16.0 software was used to compare genotype frequencies and the generalized multifactor dimensionality reduction ( GMDR ) method was applied for gene-gene interaction analyses.Results The results showed that EPHX2 GG genotype might protect against stroke ( OR =0.520, 95% CI 0.288 -0.940, P=0.030).The distribution of CYP3A5 genotypes showed statistically significant differences (χ2 =7.284, P=0.026) between the vulnerable plaque ( AA: 5 cases, AG: 36 cases, GG: 28 cases) and stable plaque ( AA: 26 cases, AG: 77 cases, GG: 122 cases ) groups.Multivariate Logistic regression analysis showed that the GG genotype of CYP3A5 was protective factor for unstable plaques ( OR=0.405, 95%CI 0.178 -0.920, P =0.031 ).Differences in other SNPs did not reach statistical significance between the two groups.The GMDR analysis showed a significant gene-gene interaction between SG13S114 and A6986G, with scores of 10 for cross-validation consistency and 9 for the sign test (P=0.011).The best model for ischemic stroke was found to be SG13S114 AA and A6986G AA.Adjusting for age, hypertension and diabetes, the certain gene-gene interaction predicted a significantly higher risk of cerebral infarction (OR=1.804, 95%CI 1.180-2.759, P=0.006).Conclusions The EPHX2 G860A gene might be linked with the incidence of cerebral infarctions.Only a CYP3A5 gene polymorphism might be associated with carotid plaque instability in patients with stroke.The gene-gene interaction predicts a significantly higher risk of cerebral infarction.There is a 1.804-fold increased risk for ischemic stroke in individuals with these combined genetic factors.

Objective To explore the reasons of biliary restenosis after interventional treatment for malignant obstructive jaundice caused by hepatic hilar cholangiocarcinoma and to discuss its management. Methods During the period from June 2010 to Sep. 2013 at authors’ hospital, a total of 36 patients with high biliary obstruction caused by Bismuth Ⅱ - Ⅳ type of hepatic hilar cholangiocarcinoma received percutaneous transhepatic cholangial stenting (PTCS), and as the patients developed biliary restenosis after PTCS percutaneous transhepatic cholangial drainage (PTCD) had to be carried out. All the patients had complete data. Serum total bilirubin, direct bilirubin, glutamyltranspetidase and alkaline phosphatase levels were determined on the operation day and at five days after PTCS and PTCD. The short - term remission of malignant obstructive jaundice produced by PTCS and PTCD were assessed. The causes of biliary restenosis were analyzed by comparing the CT and/or MRI images as well as the cholangiography and drainage test results which were performed at the first and second admission to hospital. Results The interval time from operation to restenosis was 31 - 468 days, with an average of 132.8 days. The effective rates of PTCS and PTCD for relieving jaundice were 77.8% and 75.0% respectively. The main causes of restenosis included the formation of biliary sludge, acute cholangitis and tumor growth. Conclusion PTCS is an effective means to relieve the malignant obstructive jaundice caused by hepatic hilar cholangiocarcinoma, however, the incidence of biliary restenosis after PTCS is higher, which may be mainly due to the tumor growth. Nevertheless, subsequent PTCD can effectively improve the liver function, control biliary infection, remit biliary obstruction and relieve the clinical symptoms.

Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation.Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation,who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012,chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique.Results 1.Of 396 newborns,159 (40.2％) cases were detected to have chromosomal abnormalities,including karyotype first reported domestically and internationally in 3 cases.2.Trisomy-21 (Down's syndrome),which was the most common abnormal karyotype,was seen in 130 cases,accounting for 81.8％,of whom 119 cases show the standard type,10 cases accompanied by the Robertsonian translocation involving group D or group G,and 1 case accompanied by sexual chromosomal abnormality:inv(Y) (p1 1 q 1 1),+ 21.3.Other common karyotype abnormalities were as follows:del (5) (p 1 2-14) (cats cry syndrome) in 4 cases,trisomy-18 (Edwards syndrome)in 4 cases,45,XO (Turner' s syndrome) in 4 cases,inv (9) (p1 1 q1 2-21) in 4 cases,trisomy-X (super female syndrome) in 1 case,rob(13;14) in 1 case,trisomy-8 in 1 case and del(18) (q22) in 1 case.4.Special faces were seen in 147 cases (92.5 ％),congenital heart disease in 97 cases (61.0％),low birth weight in 72 cases (45.3 ％),congenital anal atresia in 13 cases(8.1％),multiple malformations in 11 cases (6.8％),intestinal malformations in 10 cases (6.2％),extrinsic genital abnormalities in 9 cases(5.7％),meow-like cry in 4 cases(2.5％),limb edema in 4 cases (2.5％),fingers and toe abnormalities in 6 cases(3.6％),congenital brain dysplasia in 6 cases (3.6％),webbed neck in 5 cases(3.1％) and cleft lip and palate in 3 cases(1.8％).Conclusions Chromosomal abnormality is an important factor leading to neonatal birth defects,of which special face,congenital heart disease,low birth weight,and multiple malformations are the main clinical manifestations of chromosomal diseases.

Thirty-two male Sprague-Dawley rats were divided into control group (n =16) and fructose group (n =16) fed with 10％ fructose solution.After 4 weeks,the rats of two groups were treated with saline and 50 nmol/kg ghrelin for 6 weeks,respectively (each group n =8).Fasting plasma glucose,insulin,and blood lipid profile were measured.Insulin receptor (Ins-R) mRNA expression in muscle was detected by RT-PCR.The phosphorylation of insulin receptor substrate-1 (IRS-1) was measured by Western blot.The results showed that insulin level and homeostasis model assessment for insulin resistance index (HOMA-IR) in fructose group were higher than those in control group [(13.1±3.6 vs 9.0 ± 1.5) μU/ml,P＜0.05 ;2.78 ± 0.14 vs 1.81± 0.13,P ＜0.01)].After ghrelin treatment,plasma insulin concentration [(9.6 ± 2.5) μU/mL,P＜0.05] and HOMA-IR (1.96 ± 0.12,P＜0.01)significantly decreased,along with increased Ins-R mRNA and IRS-1 phosphorylation in skeletal muscle (P ＜0.01).These results suggest that ghrelin can ameliorate insulin resistance in fructose-fed rats by restoring Ins-R function.

Objective To evaluate the therapeutic effect of percutaneous transhepatic biliary drainage (PTBD) with different approaches in patients with hilar cholangiocarcinoma type Ⅱ-Ⅳ.Methods The short-term clinical effect and longterm survival rate were analyzed retrospectively for a group of 97 patients with hilar cholangiocarcinoma type Ⅱ-Ⅳ receiving PTBD with different approaches,i.e.unilateral and bilateral biliary drainage,each including stent placement and drainage tube implantation.Results No significant difference was found in the decreasing of TBIL and DBIL,the survival rate and survival Curve between unilateral and bilateral biliary drainage.The median survival time was 7.5 months in unilateral and 6.7 months in bilateral biliary drainage,6.0 months in single stent and 6.5 months in single drainage tube,and 4.3 months in bilateral stents,respectively.The post operation complications mainly occurred in single drainage tube.Conclusion Single biliary drainage is able to decrease bilirubin for hilar cholangiocarcinoma type Ⅱ-Ⅳ,while stent implantation should be taken as the first choice.