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.

Patients with Takayasu arteritis combined with aortic valve disease often have a poor prognosis following surgical valve replacement, frequently encountering complications such as perivalvular leakage, valve detachment, and anastomotic aneurysm. This article presents a high-risk case wherein severe aortic valve insufficiency associated with Takayasu arteritis was successfully managed through transcatheter aortic valve implantation via the transapical approach. The patient had satisfactory valve function with no complications observed during the six-month postoperative follow-up. This case provides a minimally invasive and feasible alternative for the clinical management of such high-risk patients.

Objective: To investigate the prevalence of undernutrition and its associated factors among left behind and non left behind primary and secondary school students in the Nutrition Improvement Program for Rural Compulsory Education Students (NIPRCES) areas of central and western China, so as to provide evidence for improving the nutritional status of children and adolescents. Methods: A survey was conducted among 123 782 students selected by random cluster sampling method in grades 3-9 from NIPRCES in central (Hebei, Shanxi, Heilongjiang, Jilin, Anhui, Jiangxi, Henan, Hunan, Hubei, and Hainan) and western (Gansu, Guangxi, Inner Mongolia, Ningxia, Tibet, Shaanxi, Guizhou, Sichuan, Xinjiang, the Xinjiang Production and Construction Corps, Yunnan, Qinghai, and Chongqing) China in 2023. Anthropometric measurements and questionnaires were used to assess nutritional and dietary status. The prevalence of undernutrition was compared between left behind and non left behind students by Chi square test, and associated factors were analyzed by three level Logistic mixed effects model. Results: The prevalence of undernutrition was 8.5% (4 326) in left behind students and 8.1% (5 905) in non left behind students. Three level Logistic mixed effect model analysis showed that whether left behind or non left behind, the undernutrition rates of primary and secondary students in western regions were higher than those of students in central regions [ OR (95% CI )=1.72(1.57-1.87),2.25(2.07- 2.43 )]; the undernutrition risk was lower for those whose fathers had a cultural level of high school or above [ OR (95% CI )=0.69(0.62-0.77),0.90(0.82-0.98)] or junior high school [ OR (95% CI )=0.72(0.66-0.79),0.92(0.85-0.99)] compared to those with primary school or below; picky eating or selective eating increased the risk of undernutrition [ OR (95% CI )=2.36(2.07-2.68),2.28(2.04-2.55)], and primary and secondary school students without nutritional content in health education classes had higher rates of undernutrition [ OR (95% CI )=1.12(1.03-1.23),1.09(1.01-1.17)](all P <0.05). Conclusion The prevalence of undernutrition is slightly higher in left behind primary and secondary students than in non left behind primary and secondary students in central and western NIPRCES areas, with variations across different characteristics.

Objective: To analyze the trends of the frequency of meat, egg, and milk consumption among rural primary and junior high school students in central and western China covered by the Nutrition Improvement Program for Rural Compulsory Education Students (NIPRCES) from 2015 to 2023, so as to provide basis for formulating more targeted nutrition intervention policies and health education strategies. Methods: Using data from six rounds of monitoring and evaluation (2015-2021 and 2023), the study included 323 870 students from grade 3 to 9 across 22 provinces (autonomous regions and municipalities) in central and western China. The consumption frequencies of meat, egg, and milk over the past week were collected via questionnaires. The Cochran-Armitage trend test was used to analyze temporal trends, and multivariable Logistic regression models were employed to analyze factors associated with the frequency of meat, egg and milk consumption and to test for interaction effects between the year and gender, region, and grade level. Results: From 2015 to 2023, the proportion of students consuming meat, egg, and milk ≥1 time/day increased from 23.20 %, 10.71%, and 0.74% to 35.53%, 22.09%, and 26.63%, respectively. Trend tests indicated a significant upward trend for the daily intake of all three food categories for meat, egg and milk over the years ( Z =67.18, 64.90, 93.14, all P <0.01). Multivariable Logistic regression analysis showed that the daily meat intake was lower in the central region than in the western region ( OR=0.77, 95%CI =0.76-0.78), whereas the daily intake of eggs ( OR=1.19, 95%CI =1.17-1.22) and milk ( OR= 1.27 , 95%CI =1.24-1.29) was higher in the central region (all P <0.05). Compared with grade 3-4 students, junior high school students had lower daily intake of meat, eggs, and milk≥1 time/day ( OR =0.95, 0.77, 0.77, all P <0.05), with a declining trend as grade increased. Girls also had lower daily intake of meat, eggs, and milk ≥1 time/day than boys ( OR =0.95，0.93，0.91, all P < 0.05). Significant interactions were observed between year and region, as well as between year and grade (all P <0.05). Conclusion From 2015 to 2023, the NIPRCES improved the intake level of among rural students, but the situation of relatively insufficient intake of egg and milk among females, junior high school students and those in the western region still exists.

The neonatal mammalian heart has a remarkable regenerative capacity, while the adult heart has difficulty to regenerate. A metabolic reprogramming from glycolysis to fatty acid oxidation occurs along with the loss of cardiomyocyte proliferative capacity shortly after birth. In this study, we sought to determine if and how metabolic reprogramming regulates cardiomyocyte proliferation. Reversing metabolic reprogramming by carnitine palmitoyltransferase 1 (CPT1) inhibition, using cardiac-specific Cpt1a and Cpt1b knockout mice promoted cardiomyocyte proliferation and improved cardiac function post-myocardial infarction. The inhibition of CPT1 is of pharmacological significance because those protective effects were replicated by etomoxir, a CPT1 inhibitor. CPT1 inhibition, by decreasing poly(ADP-ribose) polymerase 1 expression, reduced ADP-ribosylation of dual-specificity phosphatase 1 in cardiomyocytes, leading to decreased p38 MAPK phosphorylation, and stimulation of cardiomyocyte proliferation. Our present study indicates that reversing metabolic reprogramming is an effective strategy to stimulate adult cardiomyocyte proliferation. CPT1 is a potential therapeutic target for promoting heart regeneration and myocardial infarction treatment.

Secondary osteoporosis is common in patients with early breast cancer, manifesting as low back pain, bone and joint symptoms, and osteoporotic fractures. Bisphosphonate and denosumab can reduce the incidence of fractures by minimizing bone loss, though they differ in efficacy, treatment course, and side effects. Patients should consider the pros and cons when selecting a drug. Recent studies also focus on decreasing the incidence of bone metastases. This article reviews recent advancements in the use of these two drugs for managing bone health in early breast cancer.

Objective:To compare the effects of intraoperative administration or non-administration of tranexamic acid (TXA) on early postoperative inflammatory response and clinical outcomes in elderly male patients with intertrochanteric femur fractures.Methods:A retrospective cohort study was conducted to analyze the clinical data of 92 elderly male patients with intertrochanteric femur fractures admitted to Zhongda Hospital Affiliated to Southeast University from January 2020 to December 2022, aged 62-96 years [(79.9±8.4)years]. According to the modified Evans classification, the fractures were classified as types I-III in 33 patients and types IV-V in 59. All the patients were treated with proximal femoral intramedullary nail fixation. Among them, 46 patients received intraoperative TXA (TXA group), while 46 patients did not (non-TXA group). The operative duration, intraoperative blood loss, length of postoperative hospital stay were compared between the two groups. The serum interleukin-6 (IL-6) levels and visual analogue scale (VAS) scores at 1, 3, 5, and 7 days postoperatively were detected. The complication rate and mortality within 1 year postoperatively were also compared between the two groups.Results:All the patients were followed up for 1-12 months [(10.9±2.8)months]. No significant difference was found in the operative duration between the groups ( P>0.05). The intraoperative blood loss and length of postoperative hospital stay were 150.0(100.0, 200.0)ml and (6.8±1.9)days in the TXA group, less or shorter than those in the non-TXA group [200.0(150.0, 262.5)ml and (7.7±2.0)days] ( P<0.05). At 1, 3, and 5 days postoperatively, the IL-6 levels in the TXA group were 84.5(66.3, 100.1)pg/ml, 48.9(36.8, 61.2)pg/ml, and 27.9(19.4, 37.5)pg/ml, which were all lower than those in the non-TXA group [110.3(83.1, 162.9)pg/ml, 63.7(44.2, 84.2)pg/ml, and 32.7(22.4, 42.9)pg/ml] ( P<0.05). No statistically significant difference in the IL-6 level was observed between the two groups at 7 days postoperatively ( P>0.05). At 1 and 3 days after operation, the VAS scores in the TXA group were (4.3±0.9)points and (2.5±0.9)points, lower than those in the non-TXA group [(6.8±1.2)points and (3.0±1.2)points] ( P<0.05). There were no statistically significant differences in VAS scores between the two groups at 5 and 7 days postoperatively ( P>0.05). The complication rate within one year after operation was 28% (13/46) in the TXA group, significantly lower than 50% (23/46) in the non-TXA group ( P<0.05). No significant difference was observed in the mortality within 1 year postoperatively between the two groups ( P>0.05). Conclusion:Compared with non-administration of TXA, intraoperative administration of TXA can effectively reduce the intraoperative blood loss, shorten the length of postoperative hospital stay, significantly lower early postoperative inflammation levels, reduce early postoperative pain intensity, and decrease the incidence of complications in elderly male patients with intertrochanteric femur fractures, with no significant difference in mortality within 1 year after operation between the two groups.

Objective:We study the prognostic value of TNM stage and L3-skeletal muscle mass index in overall survival(OS)in elderly patients with colorectal cancer after surgery.Furthermore, investigate the prognostic value of combined scoring system(TNM-SMI score)in patients with colorectal cancer.Methods:From January 1, 2018 to January 31, 2019, the clinical data of elderly patients who were diagnosed with colorectal cancer for the first time in Longyan First Hospital, Fujian Medical University were retrospectively analyzed.The baseline data were compared in patients with different TNM stage and L3SMI.The relevant factors that might affect the prognosis of the patients were analyzed to determine the independent risk factors in cox regression analyses.Survival curves were plotted by using the Kaplan-Meier method, and Log-rank test was used to compare Overall Survival.Predictive efficacy was compared by plotting (ROC)curve and calculating the area under the curve(AUC).Results:A total of 128 eligible patients aged 65-88(73.96±6.20)years were enrolled.Among them, 82 were male.Univariate and multifactorial cox regression analyses showed that TNM stage( HR=3.944, 95% CI: 1.519-10.237, P<0.05)and L3SMI( HR=3.194, 95% CI: 1.222-8.349, P<0.05)were the independent risk factors for OS in elderly colorectal cancer patients; Survival curves plotted by Kaplan-Meier method showed that the 5-year survival rate(OS rate)of patients in TNM(Ⅲ and Ⅳ)group was lower than in TNM(Ⅰ and Ⅱ)group(58.8% vs.88.9%, P<0.001), and the 5-year survival rate(OS rate)of patients in low L3SMI group was lower than in high L3SMI group(51.0% vs.88.3%, P<0.001); Elderly colorectal patients were risk stratified by TNM-SMI score, the patients with higher score had worse 5-year OS rate; The AUC of L3SMI, TNM stage, and TNM-SMI score are 0.729, 0.695, and 0.800. Conclusions:The TNM stage and L3SMI are independent risk factors of OS after colorectal cancer surgery; TNM-SMI score, which combines TNM stage and L3SMI, can predict prognosis more efficiency compare to single-factor.The higher TNM-SMI score had the worse prognosis; TNM stage in combination with L3SMI improves the efficiency prediction of OS after colorectal cancer surgery.

Objective:To explore the correlation between hyperuricemia (HUA) and chronic kidney disease (CKD) in the individuals undergoing physical examinations.Methods:It was a retrospective cohort study. The study selected 6 910 individuals who received health check-ups at the Xiangya Hospital Health Management Center of Central South University in 2012 and 2022, with none of them having developed CKD in 2012. Using the presence of HUA in 2012 as the independent variable and the occurrence of CKD in 2022 as the outcome variable, four Cox proportional hazards regression models were constructed, with baseline age, gender, body mass index, waist circumference, glomerular filtration rate, presence of hypertension, presence of diabetes, presence of dyslipidemia, white blood cell count, hemoglobin level, direct bilirubin level, alanine aminotransferase level, and blood uric acid level in 2013 as confounding variables. These models were used to analyze the correlation between HUA and CKD, and sensitivity analyses were conducted. The percentile bootstrap method was employed to conduct mediation effect testing, analyzing the intermediary risk factors that influence the correlation between HUA and CKD.Results:Among the 6 910 participants included in the study, the overall baseline detection rate of HUA was 8.78% (607/6 910). In 2022, the incidence of CKD was 7.2% (498/6 910). Cox regression analysis showed a positive correlation between HUA and the occurrence of CKD in the overall population ( HR=1.586, 95% CI: 1.224-2.055). However, after gradually adjusting for confounding factors, the correlation between HUA and CKD was not statistically significant. Stratified by gender, the occurrence of HUA was positively correlated with the incidence of CKD in women ( HR=2.599, 95% CI: 1.069-6.316), but the correlation became non-significant after adjusting for confounding factors. In contrast, there was no significant correlation between HUA and CKD in men. In sensitivity analysis, When uric acid levels were analyzed by grouping participants into two categories based on thresholds of>420 μmol/L for men and>360 μmol/L for women, or as a continuous variable, the results showed a positive correlation between HUA and CKD in the overall population and in women, the HR (95% CI) value was 1.627 (1.282-2.064), 2.465 (1.552-3.914), 1.004 (1.003-1.005) and 1.006 (1.004-1.008), respectively. However, after adjusting for confounding factors, the correlation between HUA and CKD became non-significant in both cases. In the males, there was no correlation between uric acid and the occurrence of CKD, regardless of whether uric acid was treated as a categorical or continuous variable. Mediation analysis revealed that diabetes and hypertension were full mediators between HUA/blood uric acid levels and CKD in the overall population. Among males, diabetes and hypertension were full mediators between blood uric acid levels and CKD. In females, hypertension was a full mediator between HUA/blood uric acid levels and CKD, with an effect proportion of 100%. Conclusion:HUA is positively correlated with the risk of CKD, particularly in females, but HUA is not an independent predictor of CKD. HUA influences the occurrence of CKD through conditions such as diabetes and hypertension.

Background and Objectives: There is no dedicated occlusive device for closing coronary artery fistulas (CAFs), and specific efficacy and safety data of various off-label occlusive devices for CAFs closure are scarce. Methods: Patients undergoing transcatheter closure of CAFs from January 2011 to December 2022 were included in the single-center retrospective study. The study population was divided into 2 groups: coils group (n=35) and patent ductus arteriosus (PDA) occluders group (n=66). Results: No significant intergroup differences were observed in demographic characteristics except age. The presence of multiple CAF origins (54.3% vs. 4.5%, p<0.001) and multiple draining sites (51.4% vs. 3.0%, p<0.001) were more common in the coils group. In contrast, the presence of aneurysm (72.7% vs. 14.3%, p<0.001), and large fistula (75.8% vs. 37.1%, p<0.001) were more prevalent in the PDA occluders group. The acute procedural success rate of the PDA occluders group was higher compared to that of the coils group (87.9% vs.62.9%, adjusted odds ratio [OR], 7.20; 95% confidence interval, 1.59–32.64; p=0.01).In addition, no significant intergroup differences were noted in both the recanalization rate (7.8% vs. 20%, p=0.107) and the reintervention rate (3.1% vs. 8.6%, p=0.342). Conclusions Transcatheter closure of CAFs using PDA occluders was associated with significantly higher acute procedural success rates compared to coil embolization with comparable late outcomes.