Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report.

RATIONALE: Both spinal muscular atrophy (SMA) and Phenylketonuria (PKU) are caused by biallelic pathogenic mutations. However, there has been no report on case who suffering from both diseases simultaneously. SMA mainly affects the motor function while PKU may have an impact on both the intelligence and motor function. But if only 1 disease is treated while neglecting the other, the treatment effect will be compromised. Here, for the first time, we report a case from China diagnosed with both these diseases and treated properly. PATIENT CONCERNS: A boy was admitted to the Children's Hospital Affiliated to Shandong University (Jinan, China) due to "limb weakness for 19 months" when he was 22 months old. Considering that the child's motor function development is delayed, we made a comprehensive examinations including inherited metabolic diseases and found a significantly increase of phenylalanine concentration in the blood which indicating PKU. Combined with his typical clinical manifestations of SMA, target capture sequencing followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) technologies were used for genetic confirmation. DIAGNOSES: SMA and PKU was confirmed. INTERVENTIONS: The child was treated with risdiplam and low phenylalanine formula immediately when he was diagnosed with both SMA and PKU. OUTCOMES: The child showed remarkable improvement in motor function and significant decrease of blood phenylalanine concentration after treatment. LESSONS: To our knowledge, this is the first reported case of SMA combined with PKU. This case expands our understanding of diagnosis for synchronous SMA and PKU and highlights the importance of comprehensive examinations and the utilizing of various genetic testing methods to make an accurate diagnosis of genetic diseases, which may help avoiding the progressive damage caused by certain genetic disease with insidious clinical symptoms.

Research on methods for estimating reference crop evapotranspiration under incomplete meteorological indicators.

Background: Accurate estimation of reference crop evapotranspiration (ET0) is crucial for farmland hydrology, crop water requirements, and precision irrigation decisions. The Penman-Monteith (PM) model has high accuracy in estimating ET0, but it requires many uncommon meteorological data inputs. Therefore, an ideal method is needed that minimizes the number of input data variables without compromising estimation accuracy. This study aims to analyze the performance of various methods for estimating ET0 in the absence of some meteorological indicators. The Penman-Monteith (PM) model, known for its high accuracy in ET0 estimation, served as the standard value under conditions of adequate meteorological indicators. Comparative analyses were conducted for the Priestley-Taylor (PT), Hargreaves (H-A), McCloud (M-C), and FAO-24 Radiation (F-R) models. The Bayesian estimation method was used to improve the ET estimation model. Results: Results indicate that, compared to the PM model, the F-R model performed best with inadequate meteorological indicators. It demonstrates higher average correlation coefficients (R2) at daily, monthly, and 10-day scales: 0.841, 0.937, and 0.914, respectively. The corresponding root mean square errors (RMSE) are 1.745, 1.329, and 1.423, and mean absolute errors (MAE) are 1.340, 1.159, and 1.196, with Willmott's Index (WI) values of 0.843, 0.862, and 0.859. Following Bayesian correction, R2 values remained unchanged, but significant reductions in RMSE were observed, with average reductions of 15.81%, 29.51%, and 24.66% at daily, monthly, and 10-day scales, respectively. Likewise, MAE decreased significantly, with average reductions of 19.04%, 34.47%, and 28.52%, respectively, and WI showed improvement, with average increases of 5.49%, 8.48%, and 10.78%, respectively. Conclusion: Therefore, the F-R model, enhanced by the Bayesian estimation method, significantly enhances the estimation accuracy of ET0 in the absence of some meteorological indicators.

Ozaki technique versus ross operation for complex aortic valve diseases in children: A retrospective cohort study.

BACKGROUND: The Ozaki technique demonstrated promising results in adults, but few studies reported on pediatric patients with limited follow-up time. This study aimed to evaluate the mid-term results of Ozaki technique compared with Ross operation for complex aortic valve (AV) diseases in children. MATERIALS AND METHODS: One hundred and seventeen children underwent either Ozaki (n = 64) or Ross (n = 53) operation from January 2017 to December 2023. The primary endpoint was incidence of moderate or severe regurgitation/stenosis (AR/AS) post procedure. RESULTS: No significant difference was observed in age (6.5±3.4 vs. 7.9±4.3 years) and weight (25.9±15.5 vs. 31.0±25.9 kgs) at surgery. The Ozaki group had significantly more patients in heart failure (20.3% vs. 1.9%, P = 0.003) before surgery and more patients needed ECMO installation (6.3% vs. 0, P = 0.125) after surgery. The Ozaki group were in worse status with more patients occurred heart failure (20.3% vs. 1.9%, P = 0.003) before surgery and needed ECMO installation (6.3% vs. 0, P = 0.125) after surgery. During follow up (20.4±17.3 vs. 22.7±22.8 months, P = 0.526), five patients (7.8%) in Ozaki group but no patients in Ross group required reoperations. The incidence of moderate or severe AR (28.1% vs. 3.1%) and AS (31.3% vs. 5.7%) were significantly higher than Ross group. Multivariate analysis identified lower age [HR:1.282 (95%CI:1.075-1.529), P = 0.006] and ECMO installation [HR:0.126 (0.018-0.887), P = 0.037] to be risk factors for moderate or severe AR, and higher aortic transvalvular gradient before discharge was confirmed as the only risk factor for moderate or severe AS (≥36 mmHg) at follow up in Ozaki group. CONCLUSION: Ozaki technique may be used as a palliative procedure for complex AV diseases in children, but its' mid-term results were not durable as Ross surgery, especially younger patients.

Clinical Outcomes and Predictors of Valved Homograft Conduits Used for Right Ventricular Outflow Tract Reconstruction.

We conducted a retrospective review of patients who underwent valved homograft conduits (VHC) for right ventricular outflow tract (RVOT) reconstruction at our center. Long-term outcomes were analyzed, and risk factors affecting the long-term durability of VHC were explored. Kaplan-Meier survival curves were used to evaluate survival, freedom from VHC reintervention, and freedom from VHC dysfunction. Multivariate Cox proportional hazards regression model was used to analyze the risk factors for late VHC dysfunction. A total of 290 patients who underwent VHC for RVOT reconstruction in our center were enrolled. Seven patients occurred early death, all of which were in the non-Ross group. Two hundred and sixty-five patients were followed up for 85 (0.3-176.0) months. Six patients occurred late death, all in the non-Ross group. Six patients underwent VHC reintervention. During the follow-up period, 52 patients developed VHC dysfunction. Freedom from VHC dysfunction was higher in the Ross group than in the non-Ross group in the whole cohort. Multivariate Cox regression analysis showed that age < 6 years and non-Ross operation were independent risk factors for VHC dysfunction. Freedom from VHC dysfunction was higher in the Ross group than in the non-Ross group in patients younger than 6 years of age at surgery. However, there was no significant difference in freedom from VHC dysfunction between the two groups in patients older than 6 years. Long-term outcomes of VHC for RVOT reconstruction are satisfactory. Age < 6 years and non-Ross operation are independent risk factors for VHC dysfunction. The long-term survival rate and durability of VHC in Ross group were better than those in non-Ross group. The advantage of long-term durability of VHC in the Ross group was mainly reflected in patients aged < 6 years at operation.

Synthesis of 1,2,4,5-tetra-substituted benzenes via copper-catalyzed dimerization of γ,δ-unsaturated ketones.

An efficient cyclization for the synthesis of 1,2,4,5-tetra-substituted benzenes via copper catalyzed dimerization of γ,δ-unsaturated ketones has been described. This one-pot procedure employs the γ,δ-unsaturated ketones as the sole substrate with multiple C-C bond formation. This protocol features broad substrate scope and provides a facile and robust method to construct polysubstituted benzene derivatives under mild conditions.

Pulmonary artery banding for cardiomyopathy in young children: First trial in China.

AIMS: Heritable dilated cardiomyopathy (DCM) or DCM associated with congenital or acquired left ventricular diseases carries a significant mortality risk. Pulmonary artery banding (PAB) has been proposed as an alternative to heart transplantation. This study aimed to delineate the clinical development, ventricular reverse remodelling, and functional regeneration of the dilated left ventricle, presenting as a pioneering approach in China. METHODS AND RESULTS: This prospective study was initiated in November 2021, involving paediatric patients with a significant dilated left ventricle and preserved right ventricle who underwent surgical PAB. The baseline characteristics and clinical information during follow-up were collected. Seven patients (five boys) with a median age of 240 (148, 1028) days have been included thus far. No procedural or follow-up mortality was observed. The modified Ross functional class improved from treatment to follow-up of 348 (200, 629) days, and the median left ventricular ejection fraction increased from 27.0 (15.0, 34.0) % before surgery to 61.0 (52.0, 68.0) % (P < 0.05); the median left ventricular end-diastolic diameter and corresponding Z-scores decreased from 43.0 (40.0, 55.0) mm [+9.4 (+7.7, +11.7)] to 33.0 (29.0, 39.0) mm [+1.8 (+1.3, +3.8)] (P < 0.05). Functional regeneration of the left ventricle was observed in five patients. Three of them underwent balloon dilation of the PAB to relieve excessively elevated right ventricular pressures. CONCLUSIONS: The application of PAB should adhere to strict criteria. Initial results are promising for infants and even toddlers with a dilated left ventricle and limited probability of spontaneous recovery. PAB can be an alternative when there is a shortage of donor transplants and assist devices, especially for low- and middle-income countries.

Application of a Novel Mitral Valvuloplasty Strategy in Children with Mitral Regurgitation.

To retrospectively analyze the clinical efficacy of an innovative mitral valvuloplasty strategy in the treatment of mitral regurgitation in children. From January 2018 to December 2022, 140 patients undergoing surgical treatment for mitral regurgitation in our hospital were enrolled. Ninety patients underwent three-step standardized pediatric mitral valvuloplasty (group A) and 50 patients underwent simple annuloplasty (group B). The incidence of primary and secondary study endpoint was compared between the two groups, and the independent risk factors for the primary study endpoint were determined. Our primary study endpoint was a composite endpoint of postoperative functional mitral failure, postoperative heart failure, transplantation, and/or mortality. Secondary end points were defined as perioperative complications. During the follow-up period, there was no all-cause death. Primary endpoint events occurred in 22 patients, including 12 patients in group A and 10 patients in group B. There was no significant difference in the incidence of primary and secondary endpoint events between the two groups. Multivariate Cox proportional hazards regression analysis showed that younger age and residual mitral regurgitation at discharge were independent risk factors for the primary endpoint events, while type of MV repair was not an independent risk factor. Subgroup analysis based on age showed that primary endpoint events occurred in 4 patients in group A and 7 patients in group B in patients < 1 year old. The incidence of primary endpoint events in group A was lower than that in group B (6.06% vs. 20.59%, P = 0.041). In patients ≥ 1 year old, the primary endpoint event occurred in 8 cases in group A and 3 cases in group B. There was no significant difference in the incidence of primary endpoint events between groups A and B (33.33% vs. 18.75%, P = 0.312). The degree of mitral regurgitation at discharge was significantly improved compared with that before operation in both groups (P < 0.001), and the degree of mitral regurgitation at the last follow-up was not significantly worse than that at discharge (P = 0.090). The mid-term results of mitral valvuloplasty for mitral regurgitation in children are encouraging. The perioperative recovery and postoperative outcomes of three-step standardized mitral valvuloplasty in children are not inferior to those of annuloplasty alone. Three-step standardized pediatric mitral valvuloplasty has better postoperative outcomes than simple mitral annuloplasty, especially for patients younger than 1 year old. Children with residual mitral regurgitation at discharge should be followed up regularly to be alert to the occurrence of poor prognosis.

Clinical Outcomes, Predictors, and Surgical Management of Infracardiac Total Anomalous Pulmonary Venous Connection.

This study sought to find the risk factors of postoperative pulmonary venous obstruction (PVO), PVO-related reintervention, and postoperative mortality, determine the relationship between pulmonary venous confluence (PVC) morphology and the clinical outcomes, and provide the basis for the selection of the optimal surgical strategy for infracardiac total anomalous pulmonary venous connection (TAPVC). From December 2009 to December 2023, 101 patients with infracardiac TAPVC undergoing surgical repair in our institution were included [Conventional surgery (CS) group, n = 73; Sutureless technique (ST) group, n = 28]. The Kaplan-Meier curve was used to demonstrate the survival estimates. The Cox proportional hazard model was used to identify risk factors for primary endpoints. There were 8 in-hospital deaths and 4 late deaths. The survival rates at 1, 5, and 10 years were 88.8%, 87.6%, and 87.6%, respectively, in the whole cohort. Multivariable analysis showed that prolonged cardiopulmonary bypass (CBP) time was associated with overall mortality and Y-shaped PVC has a trend for a higher mortality rate. Postoperative PVO occurred in 27 patients. Freedom from postoperative PVO at 1, 5, and 10 years were 81.8%, 69.9%, and 69.9%, respectively. Y-shaped PVC and preoperative PVO were incremental risk factors for PVO, but ST repair was a protective factor. Sixteen patients underwent PVO-related reintervention. Y-shaped PVC was the only independent risk factors for PVO-related reintervention while ST repair was a protective factor. Sutureless technique can achieve satisfactory outcomes for infracardiac TAPVC repair. Compared with CS repair, ST repair is significantly associated with decreased postoperative PVO and PVO-related reintervention. Y-shaped PVC is associated with a higher risk of PVO, PVO-related reintervention, and mortality, respectively. Patients with preoperative PVO are more likely to develop postoperative PVO.

8-oxoguanine DNA glycosylase-1 may serve as biomarker of mechanical asphyxia.

AIM: To identify mtDNA and OGG1 as potential biomarker candidates for mechanical asphyxia. METHOD: The human tissues are divided into experimental group (hanging and strangulation) and control groups (hemorrhagic shock, brain injury group, and poisoning group). Detected the expression of OGG1 and integrity of mtDNA in cardiac tissue of each group. We used over-OGG1 vector and siRNA-OGG1 transfecting H9C2 cell line to observe the function of OGG1 in hypoxic cells. RESULTS: 1. mtDNA integrity decreased in the mechanical asphyxia group, OGG1 expression increased in mechanical asphyxia groups. They can be biomarkers for mechanical asphyxia. 2. OGG1 increased first and decreased in hypoxia-induced H9C2 cells. OGG1 upregulated the TFAM, NRF1, and Bcl2 in hypoxia-induced H9C2. OGG1 downregulated cleaved-Caspase3 in hypoxia-induced H9C2 cells. 3. In the normoxia condition, NAC maintained mtDNA integrity and decreased the mitochondrial membrane potential and amount of ATP. CONCLUSION: mtDNA integrity and OGG1 expression can be biomarkers for mechanical asphyxia. OGG1 can maintain mtDNA integrity and maintain the stability of the mitochondrial membrane.

Long-Term Outcomes of Individualized Repair in Patients with Supravalvular Aortic Stenosis.

Various surgical techniques have been introduced to treat supravalvular aortic stenosis (SVAS). However, there is no consensus on the optimal approach. This study aimed to analyze the outcomes of surgical treatment of SVAS and determine the optimal strategy. The Kaplan-Meier curve was used to demonstrate the survival estimates. The Cox proportional hazard model was used to identify risk factors for residual aortic stenosis and residual stenosis-related reintervention. From December 2008 to December 2023, 98 patients with SVAS undergoing surgical repair in our institution were included [McGoon group, n = 62; Doty group, n = 36]. There were 2 in-hospital deaths and 1 late death. The survival rates at 1, 5, and 15 years were 98.0%, 96.7%, and 96.7%, respectively in the whole cohort. Residual aortic stenosis occurred in 18 patients. Multivariable analysis showed that preoperative gradient ≥ 90 mmHg (P = 0.002) and Williams syndrome (P = 0.002) were incremental risk factors for residual aortic stenosis, but surgical technique (P = 0.579) was not a risk factor for residual aortic stenosis. In the McGoon group, patients with diffuse type had worse freedom from residual aortic stenosis than patients with discrete type (P = 0.007). However, in the Doty group, patients with diffuse type had comparable freedom from residual aortic stenosis to patients with discrete type (P = 0.911). Residual stenosis-related reintervention occurred in 15 patients. Fifteen patients all underwent residual aortic stenosis-related reintervention. Of 15 patients, 6 patients also underwent residual pulmonary stenosis-related reintervention. On multivariate analysis, Williams syndrome (P < 0.001), preoperative sinotubular junction (STJ) z-score < - 3.5 (P = 0.051), and Doty repair (P = 0.033) were found to be independent risk factors associated with residual stenosis-related reintervention. In the whole cohort, freedom from residual stenosis-related reintervention at 1, 5, and 15 years were 97.8%, 89.3% and 76.1%, respectively. Surgical repair of SVAS can be safely achieved using different techniques, with similar long-term mortality. Compared with McGoon repair, Doty repair was significantly associated with decreased residual aortic stenosis rates in patients with diffuse-type SVAS. Patients with preoperative gradient ≥ 90 mmHg or Williams syndrome are more prone to residual aortic stenosis. Surgical technique was not associated with residual aortic stenosis rates. Williams syndrome, preoperative STJ z-score < - 3.5, and Doty repair are associated with higher residual stenosis-related reintervention rates.

Determining Whether an Individual is 18 Years or Older Based on the Third Molar Root Pulp Visibility in East China.

OBJECTIVES: To investigate the age-related changes of the mandibular third molar root pulp visibility in individuals in East China, and to explore the feasibility of applying this method to determine whether an individual is 18 years or older. METHODS: A total of 1 280 oral panoramic images were collected from the 15-30 years old East China population, and the mandibular third molar root pulp visibility in all oral panoramic images was evaluated using OLZE 0-3 four-stage method, and the age distribution of the samples at each stage was analyzed using descriptive statistics. RESULTS: Stages 0, 1, 2 and 3 first appeared in 16.88, 19.18, 21.91 and 25.44 years for males and in 17.47, 20.91, 22.01 and 26.01 years for females. In all samples, individuals at stages 1 to 3 were over 18 years old. CONCLUSIONS: It is feasible to determine whether an individual in East China is 18 years or older based on the mandibular third molar root pulp visibility on oral panoramic images.

Efficacy and Safety of Anti-Programmed Cell Death Protein 1/Programmed Death-Ligand 1 Antibodies Plus Chemotherapy as First-Line Treatment for NSCLC in the People's Republic of China: a Systematic Review and Meta-Analysis.

Introduction: The available approved anticancer drugs for Chinese patients are relatively limited because of China's low participation rate in international clinical trials. Therefore, a focus on approved anti-programmed cell death protein 1 (PD-1)/programmed death-ligand 1 (PD-L1) drugs in China is needed. This study aims to assess the heterogeneity of anti-PD-1/PD-L1 antibodies manufactured in China (domestic PD-1/PD-L1) and overseas (imported PD-1/PD-L1) when combined with chemotherapy as the first-line treatment of NSCLC. Methods: A systematic search was performed using PubMed, EMBASE, and Cochrane Library of publications up to July 13, 2023. Meta-analysis was applied to compare the efficacy and safety profile between anti-PD-1/PD-L1 antibodies plus chemotherapy (PD-1/PD-L1+Chemo) and chemotherapy alone using STATA software. Pooled hazard ratios for progression-free survival and overall survival, odds ratios for objective response rate, and incidence rate of grade greater than or equal to three treatment-related adverse events with 95% confidence intervals were calculated in the domestic group and imported group by a random-effects model, and the heterogeneity between the two estimates was assessed. Results: There were 14 eligible clinical studies with a total of 3951 patients involved in this analysis, including eight studies of domestic PD-1/PD-L1+Chemo and six studies of imported PD-1/PD-L1+Chemo. The study revealed that there was no significant difference between domestic and imported PD-1/PD-L1+Chemo in overall survival (p = 0.80), progression-free survival (p = 0.53), and incidence rate of grade greater than or equal to three treatment-related adverse events (p = 0.10). Nevertheless, the objective response rate of imported PD-1/PD-L1+Chemo was significantly higher than that of domestic PD-1/PD-L1+Chemo (p = 0.03). Conclusions: Domestic anti-PD-1/PD-L1 antibodies plus chemotherapy were found to have comparable efficacy and safety to those combined with imported anti-PD-1/PD-L1 antibodies based on current evidence.

Genomic profiling informs therapies and prognosis for patients with hepatocellular carcinoma in clinical practice.

Hepatocellular carcinoma (HCC) genomic research has discovered actionable genetic changes that might guide treatment decisions and clinical trials. Nonetheless, due to a lack of large-scale multicenter clinical validation, these putative targets have not been converted into patient survival advantages. So, it's crucial to ascertain whether genetic analysis is clinically feasible, useful, and whether it can be advantageous for patients. We sequenced tumour tissue and blood samples (as normal controls) from 111 Chinese HCC patients at Qingdao University Hospital using the 508-gene panel and the 688-gene panel, respectively. Approximately 95% of patients had gene variations related to targeted treatment, with 50% having clinically actionable mutations that offered significant information for targeted therapy. Immune cell infiltration was enhanced in individuals with TP53 mutations but decreased in patients with CTNNB1 and KMT2D mutations. More notably, we discovered that SPEN, EPPK1, and BRCA2 mutations were related to decreased median overall survival, although MUC16 mutations were not. Furthermore, we found mutant MUC16 as an independent protective factor for the prognosis of HCC patients after curative hepatectomy. In conclusion, this study connects genetic abnormalities to clinical practice and potentially identifies individuals with poor prognoses who may benefit from targeted treatment or immunotherapy.

Temporal turnover of viral biodiversity and functional potential in intertidal wetlands.

As the central members of the microbiome networks, viruses regulate the composition of microbial communities and drive the nutrient cycles of ecosystems by lysing host cells. Therefore, uncovering the dynamic patterns and the underlying ecological mechanisms mediating the tiniest viral communities across space and through time in natural ecosystems is of crucial importance for better understanding the complex microbial world. Here, the temporal dynamics of intertidal viral communities were investigated via a time-series sampling effort. A total of 1911 viral operational taxonomic units were recovered from 36 bimonthly collected shotgun metagenomes. Functionally important auxiliary metabolic genes involved in carbohydrate, sulfur, and phosphorus metabolism were detected, some of which (e.g., cysH gene) were stably present within viral genomes over time. Over the sampling period, strong and comparable temporal turnovers were observed for intertidal viromes and their host microbes. Winter was determined as the pivotal point for the shifts in viral diversity patterns. Notably, the viral micro-diversity covaried with the macro-diversity, following similar temporal patterns. The relative abundances of viral taxa also covaried with their host prokaryotes. Meanwhile, the virus-host relationships at the whole community level were relatively stable. Further statistical analyses demonstrated that the dynamic patterns of viral communities were highly deterministic, for which temperature was the major driver. This study provided valuable mechanistic insights into the temporal turnover of viral communities in complex ecosystems such as intertidal wetlands.

Long-Term Outcomes of Surgical Repair of Supracardiac Total Anomalous Pulmonary Venous Connection.

The conventional surgery (CS) of supracardiac total anomalous pulmonary venous connection (TAPVC) is not always effective particularly in the setting of complex anatomy such as the mixed variety of TAPVC. This study aimed to analyze the outcomes of surgical treatment of supracardiac TAPVC and determine the optimal strategy. From December 2009 to December 2023, patients with supracardiac TAPVC undergoing surgical repair in our institution were included. The Kaplan-Meier curve was used to demonstrate the survival estimates. The Cox proportional hazard model was used to identify risk factors for death and postoperative pulmonary venous obstruction (PVO). One hundred and eighty-three patients with supracardiac TAPVC underwent surgical repair [CS group, n = 102; modified L-shaped incision technique (MLIT) group, n = 81]. There were 8 in-hospital deaths and 16 late deaths. The survival rates at 1, 5, and 10 years were 89.0%, 85.0%, and 85.0%, respectively in the whole cohort. Multivariable analysis showed that lower weight (P = 0.031), prolonged CBP time (P = 0.007), preoperative PVO (P = 0.020), and emergency surgery (P = 0.001) were incremental risk factors for death, but using the MLIT was a protective factor for death (p = 0.028). In the CS group, patients with emergency operation had worse survival than patients with elective surgery (P < 0.001). However, in the MLIT group, patients with emergency operation had comparable survival to patients with elective surgery (P = 0.332). Postoperative PVO occurred in 30 patients. Fourteen patients underwent PVO-related reintervention. In the whole cohort, freedom from postoperative PVO at 1, 5, and 10 years were 87.5%, 80.6%, and 80.6%, respectively. Patients who underwent MLIT repair had a lower incidence of postoperative PVO (P < 0.001), and PVO-related reintervention (P = 0.019). Neonates(P = 0.033), aortic cross-clamp time (P = 0.012), preoperative PVO (P = 0.002), and using the CS (P = 0.005) were associated with postoperative PVO. In terms of postoperative PVO, MLIT had a protective effect compared with CS. In the CS group, Infant and Children patients had better freedom from postoperative PVO than Neonate patients (P < 0.001). However, in the MLIT group, Neonate patients had comparable freedom from postoperative PVO to Infant and Children patients (P = 0.332). The MLIT can achieve satisfactory outcomes for supracardiac TAPVC repair. Compared with CS, the MLIT was significantly associated with decreased death, postoperative PVO, and PVO-related reintervention. It is especially significant in improving the survival rate of patients undergoing emergency surgery and reducing the incidence of postoperative PVO in neonatal patients.

[Application of LA-UNet network model in remote sensing classification of urban green space]. / LA-UNet网络模型在城市绿地遥感分类中的应用.

The accurate identification and monitoring of urban green space is of great significance in urban planning and ecological management. In view of the complex background of urban green space, the traditional remote sensing classification technology is prone to the problem of misalignment and adhesion. Taking Yuhua District of Changsha City as the research area and Gaofen-2 (GF-2) remote sensing image as the data source, we proposed a remote sensing classification method for urban green space based on the LA-UNet model, which was based on the UNet model. We introduced the DWTCA channel attention mechanism module to improve the attention of the network to green space information, and used the CARAFE module to up sample the extracted features to achieve accurate classification of trees, shrubs and other land types in the complex background of the city. The results showed that the LA-UNet model had the best classification effect of urban green space when using standard false color remote sensing images. The overall accuracy and mean intersection over union were 96.3% and 90.9%, which were 2.8% and 6.1% higher than the UNet model, respectively. In the Potsdam public dataset, the overall accuracy and mean intersection over union of the LA-UNet model were also better than those of the UNet model, which increased by 0.9% and 1.8%, respectively, indicating that the LA-UNet model had good robustness and versatility. In summary, the proposed LA-UNet model could effectively alleviate the problems of misalignment and adhesion of urban green space, with advantages in the remote sensing classification of urban green space. The improved LA-UNet model had a smaller parameter volume than the UNet model, which could effectively improve the classification accuracy of urban green space. This study would provide a methodological reference for the accurate classification and understanding the spatial distribution of urban green space.

Di-(2-ethylhexyl) phthalate promotes benign prostatic hyperplasia through KIF11-Wnt/ß-catenin signaling pathway.

Di-(2-ethylhexyl) phthalate (DEHP) might led to chronic and long-term effects on human organs due to its widespread use and bioaccumulation. Despite some cohorts reporting an association between DEHP exposure and BPH, its underlying mechanisms have not been investigated. Our findings indicate that exposure to DEHP or MEHP (main metabolites of DEHP in the human body) leads to increased prostate weights, elevated prostate index, and notable epithelial thickening in rats. It has been observed to promote BPH-1 cell proliferation with effects ranging from low to high concentrations. Transcriptome sequencing analysis of rat prostate tissues identified KIF11 as the key hub gene. KIF11 is highly expressed after DEHP/MEHP exposure, and knocking down of KIF11 inhibits the MEHP-induced promotion of cell proliferation. Exposure to MEHP has been observed to increase the expression of p-GSK-3ß and elevate the levels of ß-catenin, thereby activating the Wnt/ß-catenin signaling pathway. Knocking down of KIF11 significantly inhibits these effects. Histone H3 at Lysine 27 acetylation (H3K27ac) is implicated in the upregulation of KIF11 expression, as evidenced by the addition of the acetylation inhibitor C646. In summary, our findings established that DEHP exposure could promote BPH through H3K27ac regulated KIF11/Wnt/ß-catenin signaling pathway.

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.

OBJECTIVE: To further comprehend the phenotype of multiple mitochondrial dysfunction syndrome type 3 (MMDS3:OMIM#615330) caused by IBA57 mutation. We present a case involving a patient who experienced acute neurological regression, and the literature was reviewed. METHODS: Clinical data and laboratory test results were collected; early language and development progress were tested; and genetic testing was performed. Bioinformatics analysis was performed using Mutation Taster and PolyPhen-2, and the literature in databases such as PubMed and CNKI was searched using MMDS3 and IBA57 as keywords. RESULTS: The child, aged 1 year and 2 months, had motor decline, unable to sit alone, limited right arm movement, hypotonia, hyperreflexia of both knees, and Babinski sign positivity on the right side, accompanied by nystagmus. Blood lactate levels were elevated at 2.50 mmol/L. Brain MR indicated slight swelling in the bilateral frontoparietal and occipital white matter areas and the corpus callosum, with extensive abnormal signals on T1 and T2 images, along with the semioval center and occipital lobes bilaterally. The multiple abnormal signals in the brain suggested metabolic leukoencephalopathy. Whole-exome sequencing analysis revealed that the child had two heterozygous mutations in the IBA57 gene, c.286T>C (p.Y96H) (likely pathogenic, LP) and c.992T>A (p.L331Q) (variant of uncertain significance, VUS). As of March 2023, a literature search showed that 56 cases of MMDS3 caused by IBA57 mutation had been reported worldwide, with 35 cases reported in China. Among the 35 IBA57 mutations listed in the HGMD database, there were 28 missense or nonsense mutations, 2 splicing mutations, 2 small deletions, and 3 small insertions. CONCLUSION: MMDS3 predominantly manifests in infancy, with primary symptoms including feeding difficulties, neurological functional regression, muscle weakness, with severe cases potentially leading to mortality. Diagnosis is supported by elevated lactate levels, multisystem impairment (including auditory and visual systems), and distinctive MRI findings. Whole-exome sequencing is crucial for diagnosis. Currently, cocktail therapy offers symptomatic relief.