Objective:To investigete the relationship between different physical activity(PA)and bone mineral density(BMD)at various skeletal sites,providing evidence for the prevention and improvement of bone health.Methods:Cross-sectional data from the National Health and Nutrition Examination Survey(NHANES)from 2007 to 2018 was used,and 7 692 participants aged≥20 were included.Multivariable linear regression model was used to analyze the relationship between different PA and BMD at the femoral neck,total hip,and lumbar spine across different genders.Statistical modeling employed a sequential variable inclusion approach:Model 1 included age,race/ethnicity,and body mass index,while Model 2 further incorporated calcium intake,marital status,smoking status,dietary inflammatory index,and serum phosphate levels.Results:PA showed statistically significant differences across age,gender,body mass index,race,marital status,smoking,and dietary inflammatory index(P＜0.05).Among females,low-intensity PA showed a positive association with femoral neck BMD in both Model 1 and Model 2(P＜0.05),but no significant correlation was found between low-intensity PA and total hip BMD(P＞0.05).High-intensity PA exhibited an inverse association with femoral neck and total hip BMD(P＜0.05),though this was only observed in Model 1.No significant association was detected between different PA intensities and lumbar spine BMD(P＞0.05).Among males,high-intensity PA showed a positive correlation with lumbar spine BMD(P＜0.05),but this association was only significant in Model 2.No significant association were observed between low-intensity PA and lumbar spine BMD in either Model 1 or Model 2(P＞0.05).Additionally,no significant association were found between different PA intensities and femoral neck or total hip BMD(P＞0.05).Conclusions:The relationship between PA and BMD varies by sex and skeletal site.Low-intensity PA is positively associated with femoral neck BMD in females,while high-intensity PA is positively correlated with lumbar spine BMD in males.

Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.

Objective To explore application effect of modified three-port robotic-assisted single-port multi-channel laparoscopic surgery in radical operation for choledochal cysts in children.Methods From March 2022 to June 2024,20 children with congenital choledochal cysts in our department underwent modified three-port robotic-assisted radical resection of choledochal cysts combined with Roux-en-Y anastomosis of the hepatic duct and jejunum.A single-port multi-channel laparoscopic device was inserted through an umbilical incision,and 8 mm trocars were respectively inserted under the right and left costal margins for robotic arm operation.Before the robot docking,the jejunum-jejunum anastomosis was completed outside the body through the umbilical single-port device.After docking,operations of cyst resection and anastomosis and reconstruction of the hepatic duct and jejunum were completed under the robotic laparoscope.Results The operations of 20 children were successfully completed without conversion to open surgery or intraoperative blood transfusion.The operation time was(269.8±23.3)min,the robotic operation time was(123.8±11.1)min,and the intraoperative blood loss was(8.3±3.9)ml.The postoperative exhaust time was(30.8±9.8)h,the abdominal drainage tube was removed at 5-6 d after operation,and the postoperative hospital stay was 7-8 d.On the 7th day after surgery,10 out of 11 children with elevated preoperative liver function transaminase(ALT and AST)levels decreased to normal,while 4 out of 6 children with elevated preoperative bilirubin(TBIL,DBIL,and IBIL)levels returned to normal.Abdominal ultrasound showed no anastomotic stenosis,cholangitis,or other serious complications during follow-ups for 3-6 months in the 20 children.Conclusion The robotic-assisted single-port multi-channel laparoscopic surgery(modified three-port method)is safe and feasible for the treatment of choledochal cysts in children.

Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.

Objective To explore application effect of modified three-port robotic-assisted single-port multi-channel laparoscopic surgery in radical operation for choledochal cysts in children.Methods From March 2022 to June 2024,20 children with congenital choledochal cysts in our department underwent modified three-port robotic-assisted radical resection of choledochal cysts combined with Roux-en-Y anastomosis of the hepatic duct and jejunum.A single-port multi-channel laparoscopic device was inserted through an umbilical incision,and 8 mm trocars were respectively inserted under the right and left costal margins for robotic arm operation.Before the robot docking,the jejunum-jejunum anastomosis was completed outside the body through the umbilical single-port device.After docking,operations of cyst resection and anastomosis and reconstruction of the hepatic duct and jejunum were completed under the robotic laparoscope.Results The operations of 20 children were successfully completed without conversion to open surgery or intraoperative blood transfusion.The operation time was(269.8±23.3)min,the robotic operation time was(123.8±11.1)min,and the intraoperative blood loss was(8.3±3.9)ml.The postoperative exhaust time was(30.8±9.8)h,the abdominal drainage tube was removed at 5-6 d after operation,and the postoperative hospital stay was 7-8 d.On the 7th day after surgery,10 out of 11 children with elevated preoperative liver function transaminase(ALT and AST)levels decreased to normal,while 4 out of 6 children with elevated preoperative bilirubin(TBIL,DBIL,and IBIL)levels returned to normal.Abdominal ultrasound showed no anastomotic stenosis,cholangitis,or other serious complications during follow-ups for 3-6 months in the 20 children.Conclusion The robotic-assisted single-port multi-channel laparoscopic surgery(modified three-port method)is safe and feasible for the treatment of choledochal cysts in children.

Objective:To investigete the relationship between different physical activity(PA)and bone mineral density(BMD)at various skeletal sites,providing evidence for the prevention and improvement of bone health.Methods:Cross-sectional data from the National Health and Nutrition Examination Survey(NHANES)from 2007 to 2018 was used,and 7 692 participants aged≥20 were included.Multivariable linear regression model was used to analyze the relationship between different PA and BMD at the femoral neck,total hip,and lumbar spine across different genders.Statistical modeling employed a sequential variable inclusion approach:Model 1 included age,race/ethnicity,and body mass index,while Model 2 further incorporated calcium intake,marital status,smoking status,dietary inflammatory index,and serum phosphate levels.Results:PA showed statistically significant differences across age,gender,body mass index,race,marital status,smoking,and dietary inflammatory index(P＜0.05).Among females,low-intensity PA showed a positive association with femoral neck BMD in both Model 1 and Model 2(P＜0.05),but no significant correlation was found between low-intensity PA and total hip BMD(P＞0.05).High-intensity PA exhibited an inverse association with femoral neck and total hip BMD(P＜0.05),though this was only observed in Model 1.No significant association was detected between different PA intensities and lumbar spine BMD(P＞0.05).Among males,high-intensity PA showed a positive correlation with lumbar spine BMD(P＜0.05),but this association was only significant in Model 2.No significant association were observed between low-intensity PA and lumbar spine BMD in either Model 1 or Model 2(P＞0.05).Additionally,no significant association were found between different PA intensities and femoral neck or total hip BMD(P＞0.05).Conclusions:The relationship between PA and BMD varies by sex and skeletal site.Low-intensity PA is positively associated with femoral neck BMD in females,while high-intensity PA is positively correlated with lumbar spine BMD in males.

Objective:To determine the relative correction factor of pre-vitamin D and simplify the calculation method of vitamin D assay.Methods:By studying the calculation method of vitamin D content in drug standards of various countries,HPLC was used to determine the relative correction factor of pre-vitamin D,and the influencing factors of determination were investigated.Results:The relative correction factors of pre-vitamin D at 254 nm and 265nm wavelength were determined by statistical analysis of 7 laboratories in China.Conclusion:Using the pre-vi-tamin D relative correction factor method to calculate the total amount of vitamin D simplified the experimental steps can be simplified by the pre-vitamin D relative correction factor method to calculate the total amount of vitamin D and the random operating errors can be avoided.The method is rapid and accurate,and lay a solid foundation for further improving the standard of vitamin D preparations.

Objective:To analyze the intrauterine ultrasound manifestations and postnatal follow-up outcomes of fetuses with 2q13 microdeletion.Methods:This retrospective study involved 23 cases of 2q13 microdeletion, diagnosed via amniotic fluid chromosome karyotyping and single nucleotide polymorphism-array (SNP-array) following amniocentesis, between January 1, 2018, and September 1, 2022, at Wuxi Maternity and Child Health Care Hospital. Descriptive statistical analysis was applied to prenatal diagnostic indications, intrauterine ultrasound findings, prenatal diagnosis results, and postnatal follow-up outcomes.Results:(1) The prenatal diagnostic indications for the 23 cases of 2q13 microdeletion included seven cases (30.4%) of high-risk serological screening, six cases (26.1%) of increased nuchal translucency (NT), two cases (8.7%) of fetal heart defects, two cases (8.7%) of advanced maternal age, two cases (8.7%) of fetal choroid plexus cysts (one of which was also associated with high-risk serological screening), one case (4.3%) of suboptimal fetal nasal bone fusion, one case (4.3%) of non-invasive prenatal testing suggesting chromosomal abnormalities, one case (4.3%) of fetal obstructive polycystic kidneys, one case (4.3%) of fetal subependymal cysts, and one case (4.3%) of fetal growth restriction. (2) Intrauterine ultrasound findings included six cases (26.1%) of NT thickening, four cases (17.4%) of intrauterine growth restriction, two cases (8.7%) of fetal heart defects, two cases (8.7%) of choroid plexus cysts, one case (4.3%) of oligohydramnios, one case (4.3%) of suboptimal fetal nasal bone fusion, one case (4.3%) of short long bones in the fetus, one case (4.3%) of polyhydramnios with large fetal abdominal circumference, one case (4.3%) of large fetal abdominal circumference, short long bones, and subependymal cysts of the brain ventricles, and one case (4.3%) of fetal obstructive polycystic kidneys; the remaining six cases (26.1%) showed no abnormal ultrasound findings. (3) Chromosome karyotyping revealed three cases of chromosomal structural abnormalities, one case of sex chromosome numerical abnormalities, and the remaining 19 cases showed no abnormalities. Amniotic fluid SNP-array results indicated deletions ranging from 104 to 1 745 kb. Parental verification was performed in ten cases, showing maternal inheritance in four cases, paternal inheritance in five, and one case of a de novo mutation. (4) Four cases (17.4%) opted for pregnancy termination, while 19 cases (82.6%) resulted in live births. The 19 live-born children underwent telephone and child health follow-up, with ages at follow-up being 3 years (ranging from 9 to 58.8 months). Apart from two cases that did not undergo newborn congenital heart disease screening, the remaining 17 surviving infants were screened without any abnormalities. Five cases had abnormal growth and development during follow-up: one 18-month-old with mild language developmental delay, one 3-year-old plus 26 days with mild language developmental delay, one 18-month-old with language developmental delay, one 3-year-old with astigmatism, and one 30-month-old with refractive error in both eyes during a physical examination; the other 14 children showed no significant abnormalities in growth and development. Conclusions:The intrauterine ultrasound manifestations of fetuses with 2q13 microdeletion are non-specific, and most of them are inherited from their parents. Postnatal follow-up should pay attention to the development of the nervous system of children.

Objective:To provide reference for establishing the testing method for quality control of neutron beam in boron neutron capture therapy (BNCT) equipment in China by testing the radiation characteristic parameters and dosimetry characteristic parameters of epithermal neutron beam in hospital neutron irradiator (IHNI).Methods:By comparing the uncertainties in the result of various test items with the deviation values recommended by the European Joint Research Center (EC-JRC), the feasibility of the relevant of testing method was analyzed and evaluated.Results:The uncertainty in epithermal neutron fluence rate was 2.7%. The uncertainty in ratio of thermal to epithermal neutron fluence rate was 3.1%. The uncertainty in ratio of fast neutron air kerma to epithermal neutron fluence rate was 9.3%. The uncertainty in ratio of gamma air kerma to epithermal neutron fluence rate was 8.7%. The uncertainty in spatial distribution of neutron fluence rate was 2.7%. The uncertainty in thermal neutron fluence rate in phantom was 1.8%. The uncertainty in neutron and gamma-ray dose rate in phantom was 17.1% and 4.0%, respectively.Conclusions:The uncertainty in neutron dose rate measurement result in phantom is higher, and further research is needed to improve the accuracy of the testing method. The uncertainty in the measurement result of other test items is lower, and the accuracy of the test result is expected to meet the allowable deviation value recommended by the European Joint Research Center, and the test method is feasible.

Objective:To summarize the clinicopathologic features and clinical diagnosis and treatment experience of retroperitoneal paraganglioma.Methods:This study retrospectively analyzed the clinical, pathological and follow-up data of 39 patients admitted to the First Affiliated Hospital of Xi'an Jiaotong University from 1 Oct 2012 to 1 Oct 2022 for retroperitoneal paragangliomas undergoing resection.Results:There were 19 males and 20 females with tumor being functional in 11 cases (28%) and non-functional in 28 cases (72%). CT angiography showed that the tumors were distributed around the abdominal aorta and inferior vena cava in most cases. All 39 patients underwent tumor rescetion.Patients in laparoscopic group had shorter operation time and postoperative hospital saty compared with open sugery [(135±66)min vs. (194±67)min, t=-2.529, P=0.016; (6.6±2.2)d vs.(9.6±4.8)d, t=-2.096, P=0.043], while there was no statistically significant difference between the two groups in terms of intraoperative blood loss [(152±151)ml vs. (361±608)ml, t=-1.169, P=0.250]. There were no major postoperative complications in the laparoscopic group, and pulmonary infection in 1 case and intestinal obstruction in 1 case in the open group. Thrity-six cases were followed up, ranging from 2 to 115 months, 1 patient in the laparoscopic group died 1 year after surgery due to recurrence and metastasis. In the open group, 1 case recurred 2 years later and was discharged after the second operation, and 1 case died of recurrence 2 years after surgery. Conclusions:Surgery is indicated for retroperitoneal paraganglioma. Adequate perioperative management is the key to the success of the operation. Laparoscopic surgery is superior to open surgery in terms of operation time and postoperative recovery .