The endometrial-myometrial junctional zone(referred to junctional zone[JZ])and the outer myometrium are both components of uterine myometrium.JZ is a specialized region between myometrium and endometrium of uterus,playing an important role in female physiology and reproductive functions.Ultrasound and MRI are the main imaging methods for evaluating JZ,able to comprehensively evaluate the morphology,thickness and blood perfusion of JZ,and to diagnose associated abnormalities.The progresses of ultrasound and MRI for evaluating JZ were reviewed in this article.

Objective:To investigate the clinical characteristics and genetic variations of patients with aminoacylase-1 deficiency (ACY1D) caused by ACY1 gene mutations, in order to enhance clinicians′ understanding of this rare disease. Methods:Clinical and genetic data of a child with ACY1D admitted to Sir Run Run Hospital, Nanjing Medical University in December 2021 were collected. Using "aminoacylase-1 deficiency" "aminoacylase-1 gene" " ACY1" and "ACY1D" as keywords, relevant cases of ACY1 gene mutations were searched in CNKI, Wanfang Data Knowledge Service Platform, OMIM, and PubMed databases until February 2025. The clinical characteristics and types of genetic variations of previously reported ACY1D patients were summarized and analyzed. Results:The patient was an 8-year and 4-month-old boy. Clinical manifestations included growth retardation, ataxia, and focal epileptic seizures. Increased excretion of various N-acetylamino acids was observed in the urine. Cranial magnetic resonance imaging showed cerebellar atrophy. Whole-exome sequencing results showed a compound heterozygous mutation in the ACY1 gene: c.1063-1G>A (IVS14-1G>A) and c.170G>A (p.G57D) (reference transcript NM_000666.2), with c.170G>A (p.G57D) being a novel mutation. Family validation results showed that the c.1063-1G>A (IVS14-1G>A) mutation originated from his mother, and the c.170G>A (p.G57D) mutation originated from his father. By literature review 11 English articles were retrieved reporting 18 ACY1D patients, along with the child in this study, totaling 19 cases, with an onset age ranging from 1 week to 4 years and 6 months. Among them, 13/19 patients showed growth retardation, 9/19 patients had language disorders, 8/19 patients had intellectual disabilities, 7/19 patients had ataxia and low muscle tone, 6/19 patients had epilepsy and febrile convulsions, and 3/19 patients had irritability, autism, and muscle weakness. Genetic testing results indicated various types of mutations in the ACY1 gene, including missense, splicing, and frameshift mutations. Conclusions:ACY1D is an autosomal recessive genetic disease caused by ACY1 gene mutations, which is relatively rare in China. The main clinical manifestations include growth retardation, intellectual and language disorders. The c.170G>A heterozygous mutation is a newly discovered variant site, expanding the mutation spectrum of the ACY1 gene. Screening for ACY1 gene variations can aid in achieving a definitive diagnosis..

The endometrial-myometrial junctional zone(referred to junctional zone[JZ])and the outer myometrium are both components of uterine myometrium.JZ is a specialized region between myometrium and endometrium of uterus,playing an important role in female physiology and reproductive functions.Ultrasound and MRI are the main imaging methods for evaluating JZ,able to comprehensively evaluate the morphology,thickness and blood perfusion of JZ,and to diagnose associated abnormalities.The progresses of ultrasound and MRI for evaluating JZ were reviewed in this article.

Objective:To investigate the clinical characteristics and genetic variations of patients with aminoacylase-1 deficiency (ACY1D) caused by ACY1 gene mutations, in order to enhance clinicians′ understanding of this rare disease. Methods:Clinical and genetic data of a child with ACY1D admitted to Sir Run Run Hospital, Nanjing Medical University in December 2021 were collected. Using "aminoacylase-1 deficiency" "aminoacylase-1 gene" " ACY1" and "ACY1D" as keywords, relevant cases of ACY1 gene mutations were searched in CNKI, Wanfang Data Knowledge Service Platform, OMIM, and PubMed databases until February 2025. The clinical characteristics and types of genetic variations of previously reported ACY1D patients were summarized and analyzed. Results:The patient was an 8-year and 4-month-old boy. Clinical manifestations included growth retardation, ataxia, and focal epileptic seizures. Increased excretion of various N-acetylamino acids was observed in the urine. Cranial magnetic resonance imaging showed cerebellar atrophy. Whole-exome sequencing results showed a compound heterozygous mutation in the ACY1 gene: c.1063-1G>A (IVS14-1G>A) and c.170G>A (p.G57D) (reference transcript NM_000666.2), with c.170G>A (p.G57D) being a novel mutation. Family validation results showed that the c.1063-1G>A (IVS14-1G>A) mutation originated from his mother, and the c.170G>A (p.G57D) mutation originated from his father. By literature review 11 English articles were retrieved reporting 18 ACY1D patients, along with the child in this study, totaling 19 cases, with an onset age ranging from 1 week to 4 years and 6 months. Among them, 13/19 patients showed growth retardation, 9/19 patients had language disorders, 8/19 patients had intellectual disabilities, 7/19 patients had ataxia and low muscle tone, 6/19 patients had epilepsy and febrile convulsions, and 3/19 patients had irritability, autism, and muscle weakness. Genetic testing results indicated various types of mutations in the ACY1 gene, including missense, splicing, and frameshift mutations. Conclusions:ACY1D is an autosomal recessive genetic disease caused by ACY1 gene mutations, which is relatively rare in China. The main clinical manifestations include growth retardation, intellectual and language disorders. The c.170G>A heterozygous mutation is a newly discovered variant site, expanding the mutation spectrum of the ACY1 gene. Screening for ACY1 gene variations can aid in achieving a definitive diagnosis..

Background Self-perceived burden,anxiety and depression are among the most important factors affecting quality of life.At present,there is a lack of understanding on the research status and influencing factors of self-perceived burden in liver transplant recipients.Previous studies have shown that self-perceived burden,anxiety,depression and quality of life are correlated in pairs,but the effecting path among the three are not yet clear.Objective To explore the correlation of self-perceived burden and anxiety/depression with quality of life in liver transplant recipients,so as to provide guidance for psychological nursing intervention in clinical patients.Methods A total of 200 patients liver transplant recipients were enrolled from the liver transplantation inpatient and outpatient clinics of Jiangsu Province Hospital and Qinhuai Medical Area,General Hosptial of Eastern Theater Command of People's Liberation Army of China from March 2022 to February 2023.Patients were evaluated using Self-perceived Burden Scale(SPBS),Hospital Anxiety and Depression Scale(HADS)and the Chinese version of Post Liver Transplant Quality of Life Questionnaire(pLTQ).Spearman correlation analysis was used to examine the correlation among the scales.A structural equation model using Mplus 8.3 was utilized to testify the relationship among self-perceived burden,anxiety/depression and quality of life in liver transplant recipients.Bootstrap method was used to test the effecting pathway.Results There were statistically significant differences in SPBS scores of liver transplant recipients with different levels of education and fannual family income(H=9.656,18.796,P<0.05).There were statistically significant differences in HADS scores of liver transplant recipients with different numbers of somatic symptoms(H=9.859,P<0.05).There were statistically significant differences in the Chinese version of pLTQ scores of liver transplant recipients with different levels of education,postoperative survival time and numbers of somatic symptoms(H=6.892,8.023,16.099,P<0.05).The total and each dimension scores in SPBS of liver transplant recipients were positively correlated with the total score and anxiety/depression dimension scores in HADS(r=0.464～0.586,0.460～0.593,0.286～0.408,0.464～0.583,P<0.01)and negatively correlated with the total score and each dimension scores in the Chinese version of pLTQ(r=-0.572～-0.416,-0.599～-0.441,-0.365～-0.213,-0.559～-0.428,P<0.01).Structural equation model denoted that self-perceived burden negatively affected quality of life(β=-0.186,P<0.01).Anxiety/depression also negatively affected quality of life(β=-0.679,P<0.01).The self-perceived burden indirectly affected the quality of life of liver transplant recipients through anxiety and depression,with an effect value of-0.429,accounting for 69.76％of the total effect.Conclusion The quality of life in liver transplant recipients may be related to their self-perceived burden and anxiety/depression.Self-perceived burden may affect the quality of life of liver transplant patients through anxiety and depression.

Objective:To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods:From June 2020 to April 2021, 12 971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population. The diagnosis of thalassemia was based on the results of genetic testing. Results of routine blood test and hemoglobin electrophoresis were collected and analyzed. The efficacy of five screening modes, at the cut-off value of <80 fl or 82 fl for the mean corpuscular volume (MCV), was analyzed by positive predictive value, negative predictive value, Jorden index and cost-effectiveness ratio. Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis. The five thalassemia screening models are as follows: Mode 1: The woman had a blood routine test first. If the result was positive, the spouse required a blood routine test. If both results were positive, a thalassemia gene test should be offered to the couple. Mode 2: Both husband and wife were screened by blood routine and hemoglobin electrophoresis. If one or both of them were positive, both would be tested for thalassemia gene. Mode 3: The couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing. Mode 4: The woman was screened by blood routine and hemoglobin electrophoresis. If any one of them was positive, the woman would be tested for thalassemia gene. If the gene test result was positive, the spouse should receive thalassemia gene. Mode 5: Both spouses conducted a blood routine test. If either was positive, both would conduct hemoglobin electrophoresis test. If both were positive, both spouses should receive thalassemia gene testing. Gene testing mode: The woman would be tested for thalassemia, and her spouse would have thalassemia test too if her result was positive.Results:When using MCV<80 fl as the cut-off for diagnosing thalassemia, the Youden indices of the five prenatal screening modes in Hunan Province were 0.551, 0.639, 0.898, 0.555 and 0.356, while when using MCV<82 fl as the cut-off, the Youden indices were 0.549, 0.629, 0.851, 0.548 and 0.356. When the MCV cut-off value was <80 fl, the missed diagnosis rates of the five screening modes were 44.44%, 0.00, 0.00, 18.52% and 62.96%, and the cost-effectiveness ratios were 21 709, 250 939, 76 870, 138 463 and 92 860 yuan (RMB)/couple, respectively. When the price of genetic testing was lower than 55 yuan (RMB), the cost-effectiveness ratio of genetic screening was lower than that of Mode 3.Conclusions:MCV<80 fl can be considered as the positive criteria in blood routine screening for thalassemia in Hunan Province, and the cost-effectiveness ratio of Mode 3 (the couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing) is the best. Genetic screening has certain advantages with the decreasing price.

Objective:To evaluate the application of three-dimensional (3D) imaging device to colonoscopy.Methods:A total of 60 patients who underwent painless colonoscopy in Beijing Friendship Hospital, Capital Medical University from November to December, 2019 were enrolled and divided into 2 groups according to random code. Each patient underwent colonoscopy twice, while 2D colonoscopy was used for cecal intubation. Thirty patients were assigned to the experimental group (primary withdrawal used 3D colonoscopy, and secondary withdrawal used 2D colonoscopy), and 30 others to the control group (primary withdrawal used 2D colonoscopy, and secondary withdrawal used 3D colonoscopy). The detection of polyps, the withdrawal time, operating experience, image quality and complication were evaluated in the two groups.Results:The polyp detection rate at the first colonoscopy in the experimental group was 77.3% (17/22), which was higher than 43.5% (10/23) in the control group ( χ2=5.351, P=0.021). Ten operators in the experimental group had dizziness, while the operators in the control group had no dizziness ( P=0.001). There were no significant differences between the two groups in the polyp diameter [0.50 (0.70) cm VS 0.30 (0.20) cm, U=57.000, P=0.170], withdrawal time (4.6±1.5 min VS 5.2±1.9 min, t=-1.189, P=0.239) or image quality (27 cases with 3 points in the identification of lesion nature, and 28 cases with 3 points in the identification of duct both in the two groups, P=1.000) at the first colonoscopy. No complication occurred in either group. Conclusion:Application of 3D imaging device is feasible for colonoscopic polyp detection, and it can be used in clinical practice.

ObjectiveTo investigate the regulatory effect of Shoutaiwan on oxidative stress and pyroptosis in lipopolysaccharide （LPS）-induced human extravillous trophoblast （HTR-8/SVneo） cells and provide a new direction for deciphering the mechanism of action of Shoutaiwan. MethodLPS （100 μg∙L^-1） was used to induce the injury of HTR-8/SVneo cells （modeling）. Five groups were designed in this study， including a blank group， a model group， a Shoutaiwan （10% Shoutaiwan-containing serum） group， an antioxidant （1 mmol·L^-1 NAC） group， and NOD like receptor thermoprotein domain 3 （NLRP3） inhibitor （50 μmol·L^-1 MCC950） group. Cell viability was detected by cell counting kit-8 （CCK-8） kit. Hochest 33342/PI double fluorescence staining and flow cytometry were employed to observe cell death. The levels of interleukin-18 （IL-18）， interleukin-1β （IL-1β）， malondialdehyde （MDA）， and superoxide dismutase （SOD） in cell supernatant was determined by enzyme-linked immunosorbent assay （ELISA）. DCFH-DA probe was used to measure the level of intracellular reactive oxygen species （ROS）. Western blot was employed to determine the protein levels of NLRP3， Caspase-1， gastermin D （GSDMD）， and IL-1β in cells， and Real-time fluorescence quantitative polymerase chain reaction（Real-time PCR） to measure the mRNA levels of NLRP3 and Caspase-1 in cells. ResultCompared with the blank group， the modeling decreased the cell viability （P<0.01）， elevated the levels of IL-1β， IL-18， ROS， and MDA， and weakened the activity of SOD （P<0.01）. Furthermore， it up-regulated the protein levels of NLRP3， Caspase-1， GSDMD， and IL-1β and the mRNA levels of NLRP3 and Caspase-1 （P<0.01）. Compared with the model group， Shoutaiwan， NAC， and MCC950 increased the cell viability （P<0.01）. Further， Shoutaiwan and NAC lowered the levels of MDA and ROS and increased the activity of SOD （P<0.01）. Shoutaiwan and MCC950 reduced the IL-1β and IL-18 in cell supernatant （P<0.01）， and down-regulated the protein levels of NLRP3， Caspase-1， GSDMD， and IL-1β and the mRNA levels of NLRP3， Caspase-1， and IL-1β （P<0.05，P<0.01）. ConclusionShoutaiwan can regulate oxidative stress and pyroptosis to attenuate the LPS-induced damage of HTR-8/SVneo cells， which may be the mechanism of Shoutaiwan in preventing recurrent spontaneous abortion.

Objective:To determine the accuracy and influencing factors for endoscopic ultrasound (EUS) in predicting the invasive depth of early gastric cancer (EGC).Methods:A retrospective analysis was conducted on data of patients with EGC who were staged T1 with EUS and were treated at Beijing Friendship Hospital from January 2014 to August 2020. The consistency between the invasive depth determined by EUS and postoperative pathology were compared, and the accuracy, the sensitivity and the specificity of EUS were calculated. Logistic regression model was used for univariate and multivariate analysis to explore the relevant factors that affected the accuracy of EUS.Results:A total of 380 lesions were included. While 301 intramucosal (T1a) lesions and 79 submucosal (T1b) lesions were detected with EUS, postoperative pathology diagnosed 320 T1a lesions and 60 T1b lesions. The accuracy of EUS in predicting the invasive depth of EGC was 77.1% (293/380), the sensitivity and the specificity were 83.4% (267/320) and 43.3% (26/60) respectively. Multivariate analysis indicated that the lesions located in the upper 1/3 of the stomach ( OR=2.272, 95% CI: 1.266-4.080, P=0.006), ≥20 mm in size ( OR=2.013, 95% CI: 1.200-3.377, P=0.008) and poorly differentiated cancer ( OR=2.090, 95% CI: 1.018-4.294, P=0.045) were the independent risk factors affecting the accuracy of EUS. Poorly differentiated EGC ( OR=4.046, 95% CI: 1.737-9.425, P=0.001) was the risk factor for over-staging of EUS. Conclusion:EUS is useful in predicting the invasive depth of EGC. Factors affecting the accuracy of EUS include location in the upper 1/3 of the stomach, ≥20 mm in size and poorly differentiated EGC. Additionally, poor differentiation is the risk factor for over-staging of EUS.

Objective:To analyze the prevalence of poor vision and spatial distribution characteristics among primary school students in Shenzhen.Methods:A cross-sectional study was conducted.Vision screening among primary school students in Shenzhen was carried out by myopia screening hospitals organized by Shenzhen Myopia Prevention and Control Center for Children and Adolescents using the logarithmic visual acuity chart in 2019.The prevalence of poor vision in different districts, different genders and different grades was calculated.Spatial distribution of the prevalence of poor vision was analyzed with Arcgis 10.2 software.This study adhered to the Declaration of Helsinki.Written informed consent was obtained from guardian of each subject.The study protocol was approved by an Ethics Committee of Shenzhen Eye Hospital (No.20201230-06).Results:A total of 1 044 545 students received the visual acuity examination.The prevalence of poor vision among primary school students in Shenzhen in 2019 was 53.4%(557 748/1 044 545). The prevalence of poor vision among primary school students in the former Shenzhen Special Economic Zone was 56.7%(172 771/304 532), which was higher than 52.0%(384 977/740 013) in areas outside the former Shenzhen Special Economic Zone, and the prevalence of poor vision among girls was 56.7%(268 201/473 164), which was higher than 50.7%(289 547/571 381) among boys, and the differences were statistically significant ( χ2=192.412, 375.434; both at P<0.001). As the grade increased, the prevalence of poor vision firstly decreased and then increased, showing an increasing tendency in general.The prevalence rate of poor vision among primary school students among grade 1 to 6 was 49.8%(99 615/200 203), 44.0%(86 521/196 800), 47.2%(82 848/175 331), 54.5%(89 737/164 731), 60.8%(96 271/158 298), and 68.9%(102 756/149 182), respectively, and a significant difference was found ( χ2=2 871.017, P<0.001). The global Moran I index in Shenzhen was 0.278.The local Moran I index and Geary coefficient in Guangming District were 0.933 and 0.78, respectively.The prevalence of poor vision in Guangming District and its surrounding areas was a low-low cluster. Conclusions:The prevalence of poor vision among primary school students in Shenzhen is spatially aggregated.