The construction of a training system for visiting physicians in the department of rare diseases in China is an important measure to improve the overall diagnosis and treatment capacity for rare diseases and address the critical challenge of insufficient knowledge and skills among clinicians in practice. This article systematically describes the visiting physician training system established by the Department of Rare Diseases at Peking Union Medical College Hospital. It summarizes the training objectives and positioning, design logic, and learning modules of the system, aiming to provide a reference for the construction of the specialized talent team for rare diseases in China.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Objective:Comparative efficacy and safety profiles of tenofovir disoproxil fumarate (TDF) versus tenofovir alafenamide fumarate (TAF) in chronic hepatitis B (CHB) patients with high viral load.Methods:CHB patients with high viral load (hepatitis B virus (HBV) DNA>7 lg IU/mL) receiving TDF ( n=155) or TAF ( n=157) monotherapy were included between December 1st, 2022 and December 1st, 2023, to compare the rates of undetectable HBV DNA (<20 IU/mL), the alanine transaminase (ALT) normalization rate, hepatitis B e antigen (HBeAg) seroconversion rate, renal function and lipid profiles at 48 weeks of treatment. The statistical analysis was performed by the two independent samples t test, Mann-Whitney U test, chi-square test or Fisher′s exact probability test. Results:At week 48 of treatment, the TDF group achieved significantly higher HBV DNA undetectability rates (49.03%(76/155) vs 29.30%(46/157)) and greater mean reduction ((6.05±0.81) lg IU/mL vs (5.57±1.02) lg IU/mL) than the TAF group ( χ2=12.75, t=-4.65, both P<0.001). The ALT normalization rate of patients in the TDF and TAF groups were 77.19%(88/114) and 72.50%(87/120), and HBeAg seroconversion rates were 4.00%(6/150) and 2.67%(4/150), respectively, with no statistically significant differences between the two groups (all P>0.05). The differences in the changes and abnormal rates of serum creatinine and estimated glomerular filtration rate between the two groups of patients were not statistically significant (both P>0.05). The magnitude of decrease (0.15(-0.02, 0.38) mmol/L vs 0.06(-0.06, 0.20) mmol/L) and abnormal rate (27.73%(33/119) vs 16.39%(20/122)) in high-density lipoprotein cholesterol in the TDF group was higher than those in the TAF group, while the increases in low-density lipoprotein cholesterol (-0.09(-0.39, 0.25) mmol/L vs 0.05(-0.31, 0.42) mmol/L), total cholesterol (TC) (-0.23(-0.75, 0.23) mmol/L vs 0.08(-0.35, 0.57) mmol/L), and triglyceride (-0.12(-0.40, 0.06) mmol/L vs 0.00(-0.19, 0.24) mmol/L), as well as the abnormal rate of TC (4.31%(5/116) vs 15.75%(20/127)), in the TDF group were lower than those in the TAF group ( Z=-3.19, χ2=4.51, Z=2.17, Z=4.09, Z=3.71, χ2=8.59, all P<0.05). Conclusion:TDF demonstrated superior efficacy and better safety profiles compared to TAF in high viral load CHB patients.

Objective:Comparative efficacy and safety profiles of tenofovir disoproxil fumarate (TDF) versus tenofovir alafenamide fumarate (TAF) in chronic hepatitis B (CHB) patients with high viral load.Methods:CHB patients with high viral load (hepatitis B virus (HBV) DNA>7 lg IU/mL) receiving TDF ( n=155) or TAF ( n=157) monotherapy were included between December 1st, 2022 and December 1st, 2023, to compare the rates of undetectable HBV DNA (<20 IU/mL), the alanine transaminase (ALT) normalization rate, hepatitis B e antigen (HBeAg) seroconversion rate, renal function and lipid profiles at 48 weeks of treatment. The statistical analysis was performed by the two independent samples t test, Mann-Whitney U test, chi-square test or Fisher′s exact probability test. Results:At week 48 of treatment, the TDF group achieved significantly higher HBV DNA undetectability rates (49.03%(76/155) vs 29.30%(46/157)) and greater mean reduction ((6.05±0.81) lg IU/mL vs (5.57±1.02) lg IU/mL) than the TAF group ( χ2=12.75, t=-4.65, both P<0.001). The ALT normalization rate of patients in the TDF and TAF groups were 77.19%(88/114) and 72.50%(87/120), and HBeAg seroconversion rates were 4.00%(6/150) and 2.67%(4/150), respectively, with no statistically significant differences between the two groups (all P>0.05). The differences in the changes and abnormal rates of serum creatinine and estimated glomerular filtration rate between the two groups of patients were not statistically significant (both P>0.05). The magnitude of decrease (0.15(-0.02, 0.38) mmol/L vs 0.06(-0.06, 0.20) mmol/L) and abnormal rate (27.73%(33/119) vs 16.39%(20/122)) in high-density lipoprotein cholesterol in the TDF group was higher than those in the TAF group, while the increases in low-density lipoprotein cholesterol (-0.09(-0.39, 0.25) mmol/L vs 0.05(-0.31, 0.42) mmol/L), total cholesterol (TC) (-0.23(-0.75, 0.23) mmol/L vs 0.08(-0.35, 0.57) mmol/L), and triglyceride (-0.12(-0.40, 0.06) mmol/L vs 0.00(-0.19, 0.24) mmol/L), as well as the abnormal rate of TC (4.31%(5/116) vs 15.75%(20/127)), in the TDF group were lower than those in the TAF group ( Z=-3.19, χ2=4.51, Z=2.17, Z=4.09, Z=3.71, χ2=8.59, all P<0.05). Conclusion:TDF demonstrated superior efficacy and better safety profiles compared to TAF in high viral load CHB patients.

This study presents a case of a girl of three year and 4 month old with ataxia and severe sen-sorineural hearing loss for 2 years.In order to improve hearing,she was hospitalized in the PUMC Hospital.Ge-netic testing performed found compound heterozygous variants of c.1186C＞T(p.P396S)and c.1357C＞T(p.R453W)in TWNK gene.After a multidisciplinary discussion of the case,the team suspected mitochondrial DNA depletion syndrome type 7(hepatocerebral type).The patient has shown nervous system impairment in-volvement but no evidence of liver dysfunction.The efficacy of cochlear implantation is uncertain and general anesthesia if applied will accelerate the progress of encephalopathy and might lead to multiple organ failure.Unsure of the perioperative safety,the parents of the girl did not chose the option of hearing intervention tempo-rarily,but chose oral symptomatic supportive treatment with coenzyme Q10,folate,levocarnitine,and complex vitamins as recommended.

Objective:To analyze the impact of baseline quantification of hepatitis B core antibody (qHBcAb) on prognosis of patients with hepatitis B virus (HBV) related acute-on-chronic liver failure (HBV-ACLF).Methods:A total of 91 HBV-ACLF patients (HBV-ACLF group), who admitted to Wuxi No.5 People′s Hospital from July 1, 2019 to December 30, 2021, were included in this study. Fifty chronic hepatitis B (CHB) patients (CHB group) and 50 chronic HBV carriers (HBV carrier group) were enrolled as controls. Baseline clinical data such as qHBcAb, blood routine examination biochemical, and coagulation indices, HBsAg, hepatitis B e antigen (HBeAg), HBV DNA levels were recorded and analyzed retrospectively. The HBV-ACLF, HBsAg and HBV-DNA data were converted logarithmically. Patients were followed-up for 90 days. Cox regression was used to analyze the correlation between HBV-ACLF and survival outcome; survival rate was estimated by the Kaplan-Meier method; receiver operating characteristic (ROC) curve was used to evaluate the predictive value of baseline qHBcAb for the prognosis in patients with HBV-ACLF.Results:The baseline qHBcAb level in HBV-ACLF patients was (4.83±0.42) IU/ml, which was significantly higher than that in the CHB group [(4.59±0.54) IU/ml] and chronic HBV carrier group [(3.86±0.74) IU/ml] (all P<0.05). At the end of 90 days follow-up, 46 patients (50.55%) survived, and 45 patients (49.45%) died in the HBV-ACLF group. The baseline qHBcAb level was significantly higher in the survival group [(4.93±0.22) IU/ml] than in the death group [(4.70±0.52) IU/ml, P<0.01]. Significant differences were also found in the alpha fetoprotein, international normalized ratio, prothrombin activity, antithrombin Ⅲ activity, platelet, end-stage liver disease model score and hepatic encephalopathy complication between the two groups ( P<0.05). Cox regression analysis showed that the baseline qHBcAb was an independent risk factor affecting the 90-day survival of HBV-ACLF patients [hazard ratio=0.027,95% confidence interval ( CI) 0.001-0.696, P<0.05]. The area under the ROC curve of baseline qHBcAb level for predicting the 90-day survival outcome of HBV-ACLF patients was 0.639 (95% CI 0.525-0.752, P<0.05), with a cut-off value of 4.89 IU/ml. The cumulative survival rate of patients with baseline qHBcAb≥4.89 IU/ml was higher than that of patients with baseline qHBcAb<4.89 IU/ml ( P<0.05). Conclusions:Higher baseline qHBcAb level is associated with favorable outcome of HBV-ACLF patients and baseline qHBcAb may be used as a new biomarker to predict the clinical outcome of HBV-ACLF patients. HBV-ACLF patients with serum qHBcAb lower than 4.89 IU/ml face increased risk of short-term death.

This study critically examines the current status of interoception research in modern psychology， taking into account perspective of traditional Chinese medicine （TCM）， encompassing both foundational studies and clinical applications. The investigation highlights a deep interconnection between psychosomatic theories in TCM， such as the TCM emotions and viscera theory and the view of body-spirit syncretism， and the concept of interoception at the cognitive level. Moreover， philosophical principles， particularly the “Zhi Yi Lun” in TCM， align naturally with the three-dimensional interoception model. Importantly， this comparative analysis emphasizes that Western and Chinese medicine place different emphasis on interoception research with the former focusing on diagnosis and the latter on treatment. These differing approaches complement each other and provide opportunities for cross-fertilization. At the practical level of interoception application， “five-state personality classification” demonstrates promising potential for further clinical application. In addition， TCM has valuable insights for contemporary medical practices in terms of emotional regulation. TCM methods for emotional regulation， known as “Daoyin”， provide important knowledge in this area. One concept developed by TCM for clinical intervention targeting interoception is “Tiao Qi” （regulating qi）. This concept is used during diagnosis and treatment in TCM and plays a crucial role in managing interoceptive states. This paper aims to explain the cognitive and applied aspects of interoception in TCM， offering a perspective for future research and clinical application. By integrating modern psychology's psychosomatic medicine model， TCM can enhance its relevance and efficacy in contemporary medical contexts. This integration promotes a balanced relationship between the mind and body. TCM researchers have a responsibility to explore the inherent strengths and practical value of TCM in interoception research， and contribute to the advancement of TCM.

ObjectiveTo explore the association between social support， parent-child relationships， and depression， anxiety， and loneliness among adolescents， in order to provide a reference for improving mental health in youth. MethodsA total of 11，596 middle school students from two districts of Shanghai were investigated with the stratified random cluster sampling method. The Chinese version of Patient Health Questionnaire （PHQ-2-C）， Generalized Anxiety Disorder （GAD-7）， UCLA Loneliness Scale （ULS-6）， Perceived Social Support Scale and Parent-child Cohesion Questionnaire were used in the survey. Statistical inferences were made using t-test， ANOVA， and logistic regression analysis. ResultsGirls， non-graduates， students ranking in the top 25%， adolescents living with parents and with higher socioeconomic status had higher scores of social support and parent-child cohesion than boys， graduates， students ranking in the middle or in the bottom 25%， adolescents not living with parents and with lower socioeconomic status （P<0.05）. Adolescents' parent-child cohesion and social support were negatively correlated with all kinds of emotions. Parent-child cohesion was an associated factor of depression （OR=0.93， 95%CI：0.91‒0.94）， loneliness （OR=0.94， 95%CI：0.94‒0.95） and anxiety （OR_mild=0.98， 95%CI： 0.98‒0.99； OR_{moderate or severe}=0.96， 95%CI： 0.95‒0.98）， but there were differences in the correlation between emotions and social support in different dimensions. ConclusionSocial support and parent-child relationship are significantly associated with depression， anxiety and loneliness in adolescent students. Paying more attention to youth with different characteristics， taking targeted measures to improve the level of social support and establishing a good family relationship are conducive to promoting the mental health of adolescents.

Objective To investigate and validate the effect of relevant parameters of pancreatic anatomic structure under standard pancreatic neck transection in predicting postoperative pancreatic fistula (POPF). Methods A total of 140 patients who underwent pancreaticoduodenectomy (PD) in The General Hospital of Western Theater Command from June 2016 to December 2019 were enrolled as prediction group, and 82 patients who underwent PD in the same hospital from January 2020 to March 2021 were enrolled as validation group. Baseline levels were compared between the two groups. A univariate analysis was performed for the prediction group to screen out the risk factors for POPF, and in the validation group, the interclass correlation coefficient (ICC) was used to compare the consistency between preoperative imaging measurements and actual intraoperative measurements. The risk factors for POPF were validated in each group. The t -test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was used for comparison of continuous data with skewed distribution between groups; the chi-square test was used for comparison of categorical data between groups. The multivariate logistic regression analysis was used to investigate the risk factors for POPF. Youden index was calculated, GraphPad Prism was used to plot the receiver operating characteristic (ROC) curve, and the area under the ROC curve (AUC) was calculated. ICC was used for the reliability analysis of preoperative imaging measurements and actual intraoperative measurements. Results Pancreatic duct diameter at the pancreatic neck (odds ratio [ OR ]=0.347, 95% confidence interval [ CI ]: 0.192-0.626, P < 0.001), the major axis of the pancreatic neck parenchyma ( OR =1.127, 95% CI : 1.031-1.231, P =0.008), and the minor axis of the pancreatic neck parenchyma ( OR =1.350, 95% CI : 1.137-1.602, P =0.001) were risk factors for POPF. Pancreatic duct diameter at the pancreatic neck had an AUC of 0.785 (95% CI : 0.128-0.302, P < 0.001) and a cut-off value of 2.7 mm; the major axis of the pancreatic neck parenchyma had an AUC of 0.669 (95% CI : 0.564-0.774, P =0.006) and a cut-off value of 19.3 mm, and the minor axis of the pancreatic neck parenchyma had an AUC of 0.720 (95% CI : 0.627-0.813, P < 0.001) and a cut-off value of 9.9 mm. Preoperative imaging measurements were highly consistent with actual intraoperative measurements for 30 patients in the validation group, with an ICC of > 0.75 ( P < 0.001). Grouping validation of cut-off values showed that there was a significant different in the incidence rate of POPF between the high-risk group and the low-risk group based on pancreatic duct diameter at the pancreatic neck ( χ 2 =0.645, P =0.011), as well as between the high-risk group and the low-risk group based on the minor axis of the pancreatic neck parenchyma ( χ 2 =5.901, P =0.015). Conclusion Structural features of the pancreatic neck under standard pancreatic neck transection are risk factors for POPF, which can be differentiated by preoperative CT, and the method is easy and convenient in clinical practice.

Hyperglycemia is a common complication of critical patients. Currently, clinical assessment of the changes in the blood glucose of critical patients is mainly based on the intermittent monitoring of peripheral blood glucose at a certain time point. This method cannot get the true blood glucose fluctuation, and it is more difficult to find asymptomatic hyperglycemia and hypoglycemia, so the guiding value of blood glucose control is limited. Arterial blood is the most accurate sample of blood glucose monitoring, so it is urgent to ensure the accuracy of arterial blood sample. A continuous arterial blood glucose monitoring equipment was independently developed by general surgical intensive care unit (ICU) of the First Affiliated Hospital of Nanjing Medical University, and National Utility Model Patent of China was obtained. It could greatly improve the efficiency of medical staff, and provide accurate and dynamic statistic data that would be an important basis for doctors' clinical decision-making. The continuous arterial blood glucose monitoring equipment was mainly composed of arterial pressure measuring monitor, program-controlled dynamic blood glucose meter, wire, electric switch, integrated collecting syringe, electric clip, rotary electric bracket, and blood glucose test strips, etc., which could be continuously and dynamically monitor patient blood glucose levels and perform various additional value-added functions such as automatic recording and alarming.