Objective:To analyze the clinical characteristics of mannose phosphate isomerase-congenital disorders of glycosylation (MPI-CDG) and evaluated the outcomes following D-mannose treatment.Methods:This case-series study analyzed clinical manifestations, laboratory findings, imaging results, genetic data, and outcomes after D-mannose therapy in 5 children with MPI-CDG diagnosed at the Children′s Hospital of Fudan University between December 2014 and December 2024.Results:The age of onset ranged from 0.3 to 0.4 years in all 5 children, who initially presented with diarrhea and hypoglycemia. Associated manifestations included short stature (3 cases), anemia (3 cases), splenomegaly (3 cases), hepatomegaly (4 cases), elevated transaminases (4 cases), and hypoalbuminemia (4 cases). Liver pathology revealed hepatic fibrosis in 3 cases. Genetic testing identified 8 variants in the MPI gene, including 2 novel variants. Following D-mannose treatment, diarrhea and hypoglycemia resolved within 1-2 weeks in all children, with concurrent improvement in anemia. Notably except for Patient 1, who developed progressive splenomegaly, worsening hepatic fibrosis, and portal hypertension despite persistently normal transaminase and albumin levels, the other 4 children showed improvement in transaminase levels, resolution of hypoalbuminemia and amelioration of imaging abnormalities.Conclusions:MPI-CDG typically manifests in infancy with diarrhea and hypoglycemia, often accompanied by multi-system involvement. D-mannose treatment significantly improves metabolic abnormalities and most organ damages. However, close surveillance of liver status is warranted due to the risk of hepatic fibrosis progression in some cases.

In April 2025,the European Association for the Study of the Liver(EASL)released an updated edition of clinical practice guidelines on Wilson's disease,and compared with the 2012 edition,the updated guidelines perform detailed elaboration and updates on clinical manifestations,diagnostic algorithms,treatment strategies,and monitoring protocols,emphasize the role of serum exchangeable copper in the diagnosis and monitoring of Wilson's disease,and provide the reference ranges for clinical application.The updated guidelines also recommend and summarize the drugs for symptomatic treatment of neuropsychiatric symptoms,add a dedicated section on transitioning pediatric patients to adult care,and discuss the optimal timing,multidisciplinary team composition,and implementation frameworks of the transition plan.These updates fully reflect the latest evidence and the development of clinical needs in the diagnosis and treatment of Wilson's disease.This article gives an excerpt of the recommendations in the guidelines.

In April 2025， the European Association for the Study of the Liver （EASL） released an updated edition of clinical practice guidelines on Wilson’s disease， and compared with the 2012 edition， the updated guidelines perform detailed elaboration and updates on clinical manifestations， diagnostic algorithms， treatment strategies， and monitoring protocols， emphasize the role of serum exchangeable copper in the diagnosis and monitoring of Wilson’s disease， and provide the reference ranges for clinical application. The updated guidelines also recommend and summarize the drugs for symptomatic treatment of neuropsychiatric symptoms， add a dedicated section on transitioning pediatric patients to adult care， and discuss the optimal timing， multidisciplinary team composition， and implementation frameworks of the transition plan. These updates fully reflect the latest evidence and the development of clinical needs in the diagnosis and treatment of Wilson’s disease. This article gives an excerpt of the recommendations in the guidelines.

Objective:To analyze the clinical characteristics of mannose phosphate isomerase-congenital disorders of glycosylation (MPI-CDG) and evaluated the outcomes following D-mannose treatment.Methods:This case-series study analyzed clinical manifestations, laboratory findings, imaging results, genetic data, and outcomes after D-mannose therapy in 5 children with MPI-CDG diagnosed at the Children′s Hospital of Fudan University between December 2014 and December 2024.Results:The age of onset ranged from 0.3 to 0.4 years in all 5 children, who initially presented with diarrhea and hypoglycemia. Associated manifestations included short stature (3 cases), anemia (3 cases), splenomegaly (3 cases), hepatomegaly (4 cases), elevated transaminases (4 cases), and hypoalbuminemia (4 cases). Liver pathology revealed hepatic fibrosis in 3 cases. Genetic testing identified 8 variants in the MPI gene, including 2 novel variants. Following D-mannose treatment, diarrhea and hypoglycemia resolved within 1-2 weeks in all children, with concurrent improvement in anemia. Notably except for Patient 1, who developed progressive splenomegaly, worsening hepatic fibrosis, and portal hypertension despite persistently normal transaminase and albumin levels, the other 4 children showed improvement in transaminase levels, resolution of hypoalbuminemia and amelioration of imaging abnormalities.Conclusions:MPI-CDG typically manifests in infancy with diarrhea and hypoglycemia, often accompanied by multi-system involvement. D-mannose treatment significantly improves metabolic abnormalities and most organ damages. However, close surveillance of liver status is warranted due to the risk of hepatic fibrosis progression in some cases.

Objective:To evaluate the feasibility of using cortical bone trajectory (CBT) screws in the osteoporotic thoracolumbar fixation by comparing the bone CT values at the bone-screw interface between traditional trajectory (TT) screws and CBT screws in patients with different bone densities.Methods:The high-resolution CT imaging data of thoracolumbar segments following thoracic or lumbar spine fractures from April 2020 to October 2022 were collected at The Second Hospital Affiliated to Wenzhou Medical University for retrospective analysis. They were divided into 3 groups: a normal bone mass group, an osteopenia group and an osteoporosis group. From each group 30 cases were chosen (90 cases in total, 36 males and 54 females). All the data were imported into Mimics 18.0 for three-dimensional bone reconstruction in which placement of TT and CBT screws was simulated on the vertebrae from T10 to L2 (non-fractured vertebrae). Regions of interest (ROI) where each simulated screw intersected the bone were segmented to measure their CT bone values. For each vertebra in each group, the relative difference percentage in average CT value of ROI between TT and CBT screws was calculated. The CT values of ROI were compared in the same group between TT and CBT screws from T10 to L2; the CT values of ROI were compared in the same screws among the 3 groups from T10 to L2; the CT values of ROI were compared between the CBT screws in the osteopenia and osteoporosis groups and the TT screws in the normal bone mass group; the relative difference percentages in average CT value of ROI between CBT and TT screws were compared between the 3 groups from T10 to L2.Results:The average CT value of ROI for CBT screws was significantly higher than that for TT screws from T10 to L2 in every group ( P< 0.001); as for the CT values of ROI for CBT and TT screws from T10 to L2, the osteoporosis group0.05). At T10, T12, and L1, the relative difference percentage in average CT value of ROI between CBT and TT screws was significantly higher in the osteopenia and osteoporosis groups than that in the normal bone mass group ( P<0.05), but there was no such a difference between the osteopenia and the osteoporosis groups ( P>0.05). At T11 and L2, there was no significant difference between the 3 groups in the relative difference percentage in average CT value of ROI between CBT and TT screws ( P>0.05). Conclusions:As bone mass decreases, both CBT and TT screws lead to a significant decrease in the bone density at the bone-screw interface. In patients with osteoporosis, CBT screws can still lead to a higher bone density at the bone-screw interface than TT screws, thus providing a higher strength at the bone-screw interface.

Acute liver failure (ALF) is a rare and extremely severe clinical form of Wilson's disease (WD), characterized by progressive aggravation of jaundice and significant coagulation disorder with acute intravascular hemolysis. There is a high risk of severe complications such as hepatic encephalopathy and acute renal failure, and the disease progresses rapidly after onset and has a high mortality rate. At present, it is difficult to diagnose WD presenting as ALF in the early stage due to a lack of unified indicators for rapid diagnosis. Liver transplantation was considered the only effective treatment method for this disease in the past; however, recent studies have shown that medical treatment without liver transplantation can achieve autologous liver relief and recovery in some patients with WD-ALF.

The study is aimed to research the relationship between the seedling grade of Codonopsis pilosula and yield and quality of medicinal materials, so as to provide basis for establishing seedling standard. Thirty seedlings of C. pilosula were collected from the main production areas in Gansu province, such as Weiyuan, Minxian, Zhangxian, Dangchang and Longxi, root length and diameter and weight of all the samples were measured. According to the clustering results, seedlings were divided into 3 levels, and field experiments were conducted with three levels seedling, yield and quality were tested in laboratory. Results have showed that emergence of grades 1 was faster than that of grades 2 and 3. Yield of grades 1 was significantly higher than that of grades 2 and 3 (P<0.05). Propargyl glycoside content of grades 1 was the highest, and significantly higher than that of grades 3. Polysaccharide content of grades 3 was the highest and significantly higher than that of grades 1 and 2 (P<0.05). So considering yield, quality and investment cost of C. pilosula, planting seedlings of C. pilosula should select that root length>15.6 cm, root diameter>2.7 mm, root weight>0.56 g.

Objective To investigate the factors affecting the vaginal birth after cesarean (VBAC). Methods Totaly 298 women who underwent trial of labor after cesarean section (TOLAC) from Jan 2015 to Dec 2015 were recruited from Beijing Obstetrics and Gynecology Hospital, FuXing Hospital, Tongzhou Maternal and Child Health Hospital of Beijing, the Second Affiliated Hospital of Chongqing Medical University and the People′s Hospital of Chengyang District of Qingdao. The maternal age, the interval from the last cesarean section, the body mass index (BMI) before pregnancy, the weight gain during pregnancy, the way into labor, the Bishop score before labor, the gestational age and the birth weight of the neonate were recorded in a self-made form. The factors affecting VBAC were analyzed by univariate analysis and multivariable logistic regression. Results (1)The incidence of VBAC, uterine rupture, postpartum hemorrhage and neonatal asphyxia were 70.5%(210/298), 2.7%(8/298), 9.4% (28/298) and 1.3% (4/298), respectively. No maternal death and perinatal death occurred. (2)The univariate analysis suggested that the maternal age, the BMI before pregnancy, the Bishop score before labor, the labor induction, the gestational age at delivery and the neonatal weight were factors affecting VBAC. The maternal age and the Bishop score before labor were significantly higher in the VBAC group than in the unsuccessful TOLAC group(P<0.05). While the BMI before pregnancy, the induction rate, the gestational weeks at delivery and the birth weight of the neonate were significantly lower in the VBAC group than in the unsuccessful TOLAC group (P<0.05). Multivariable logistic regression analysis showed that successful VBAC was affected by the maternal age, the BMI before pregnancy, the Bishop score before labor and the birth weight of the neonates(P<0.05). Conclusion The maternal age, the BMI before pregnancy, the Bishop score before labor and the birth weight of neonate are the main factors affecting VBAC.