OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

ObjectiveTo observe the effect of functional pelvic floor muscle training on pelvic floor muscle function, incontinence symptoms and quality of life in female patients with stress urinary incontinence (SUI). MethodsFrom February, 2024 to July, 2025, 40 female patients with SUI were recruited from Beijing Bo'ai Hospital and advertisements. They were randomly divided into control group (n = 20) and experimental group (n = 20). The control group received conventional pelvic floor muscle contraction and relaxation training, and the experimental group received functional pelvic floor muscle contraction and relaxation training, for eight weeks. The data of pelvic floor muscle strength, pelvic floor muscle surface electromyography (sEMG), 1-hour urine pad test and Incontinence Quality of Life questionnaire (I-QOL) were collected before and after training. The compliance rate was counted after training. ResultsOne case dropped down in the control group and three cases dropped down in the experimental group. After treatment, the pelvic floor muscle strength increased in both groups (|Z| > 3.317, P < 0.01), the pre-resting average value, sustained contraction average value and durable contraction average value of sEMG improved in the control group (|t| > 2.731, P < 0.05), the mass of 1-hour urine pad significantly reduced (t > 9.215, P < 0.001) and the I-QOL score significantly increased (|t| > 13.229, P < 0.001) in both groups; compared with the control group, the pelvic floor muscle strength significantly increased (Z = -2.281, P = 0.023), the mass of 1-hour urine pad significantly reduced (t = 4.215, P < 0.001), the I-QOL score significantly increased (t = -4.501, P < 0.001), and the compliance rate significantly increased (Z = -2.798, P < 0.01) in the experimental group . ConclusionFunctional pelvic floor muscle training can significantly improve pelvic floor muscle strength, incontinence symptoms and quality of life in female patients with SUI.

Objective To investigate the prevalence of soil-transmitted nematode human infections in Hubei Province from 2016 to 2023, so as to provide insights into formulation of soil-transmitted nematodiasis control strategies and evaluation of soil-transmitted nematodiasis control effectiveness. Methods There were 10 surveillance points established in Hubei Province for soil-transmitted nematodiasis each year from 2016 to 2023. The surveillance points were divided into eastern, western, southern, northern and central regions according to geographical locations, and one administrative village was sampled from a township in each region as a surveillance point. Then, at least 200 permanent residents at ages of over 3 years were randomly sampled at each point, with at least 1 000 individuals sampled. Soil-transmitted nematode infection was detected using a modified Kato-Katz thick smear method (two slides for one stool sample), and Enterobius vermicularis infection was additionally detected with a cellophane tape test among children at ages of 3 to 9 years. The prevalence of soil-transmitted nematode human infections was descriptively analyzed. Results A total of 80 547 individuals underwent surveillance for soil-transmitted nematodiasis in Hubei Province from 2016 to 2023, and a total of 262 individuals were detected with soil-transmitted nematode infections, including two cases with mixed infections, yielding an overall prevalence rate of 0.33% (262/80 547). The prevalence rates of hookworm, Ascaris lumbricoides, Trichuris trichiura, and E. vermicularis infections were 0.02% (20/80 547), 0.07% (55/80 547), 0.02% (15/80 547) and 0.22% (174/80 547), respectively, appearing a parasite species-specific prevalence rate (χ² = 250.235, P < 0.05), and the prevalence rates of soil-transmitted nematode infections were 0.50%(51/10271),0.37%(34/9120),0.39%(39/10099),0.40%(41/10168), 0.36% (37/10 234), 0.45% (46/10 211), 0.03% (3/10 238) and 0.11% (11/10 206) in Hubei Province from 2016 to 2023, respectively, showing a year-specific prevalence rate (χ² = 60.589, P < 0.05). Soil-transmitted nematode infections were detected across 36 surveillance points, and there was a significant difference in the prevalence of soil-transmitted nematode infections among surveillance points (0.02% to 3.30%, P < 0.001). In addition, the differences in prevalence rates of human soil-transmitted nematode infection among different age groups (χ² = 531.091, P < 0.05), occupations (P < 0.001), and education levels (P < 0.001) were all statistically significant. Among these, the children at ages of 3 to 9 years old (1.40%, 174/12 461), nursery-school children (1.69%, 90/5 312) and preschool-aged children (1.56%, 93/5 969) were relatively high. Conclusions The overall prevalence of soil-transmitted nematodiasis was low in Hubei Province from 2016 to 2023; however, the prevalence varied across regions and among populations, with E. vermicularis as the predominant species of soil-transmitted nematode. Soil-transmitted nematodiasis control should be given a high priority in key areas in Hubei Province, and preschool children, primary school students, and individuals with a low educational level are recommended as key target populations for health education and interventions.

Objective To explore the environmental factors affecting the growth of Lonicera japonica Thunb.;To predict the suitable areas of L.japonica in China under current and future climate conditions.Methods Totally 2 553 pieces of L.japonica distribution information and 19 environmental factors were collected.MaxEnt model was used to screen the main environmental factors affecting the growth of L.japonica.Combined with ArcGIS 10.8 software,this article simulated the suitable area of L.japonica in our country under current and future climate conditions.Results The main environmental factors affecting the distribution of L.japonica were the lowest temperature in the coldest month,the average daily temperature range,the precipitation in the wettest quarter and the annual temperature range.Under the current climate conditions,the suitable area of L.japonica in China was about 318.29×104 km2,which was mainly distributed in central and southern China.Under the future climate scenario,the total suitable area would decrease.Conclusion This study predicted distribution of L.japonica resources and ecological suitability areas can provide theoretical basis for its wild cultivation,rational cultivation,and resource protection.

Objective:To evaluate the efficacy and safety of rituximab (RTX) in children with steroid resistant nephrotic syndrome (SRNS).Methods:The was a retrospective observational study. A retrospective analysis was conducted on the clinical data of 14 children with SRNS who received RTX treatment in the Department of Nephrology, Children's Hospital Affiliated to Capital Institute of Pediatrics from July 2021 to August 2023. The changes in urinary protein content, renal function, serum albumin, immunoglobulin and other indicators before and after RTX medication were compared to evaluate the clinical efficacy and safety of RTX treatment for SRNS.Results:A total of 14 children with SRNS were selected for this study, with a male to female ratio of 6:8. The age of onset of kidney disease was (4.36±3.12) years, and 8 of them underwent kidney biopsy. Among them, 6 cases showed focal segmental glomerulosclerosis in renal pathology, and 2 cases showed minimal change disease. The age of 14 children who first used RTX was (8.45±3.98) years old, with a dose of 375 mg/m 2 and a maximum dose of 500 mg. The number of children who had used 2, 3, 4, and 5 doses of RTX was 6, 6, 1, and 1, respectively. RTX was administered orally with compound sulfamethoxazole to prevent infection. Glucocorticoids and immunosuppressants were discontinued 4.0(2.5, 6.5) months after the first dose of RTX. The median follow-up time was 10.5(6.0, 18.3) months. By the end of the 3-month, 6-month, and follow-up endpoints, the complete remission rates of kidney disease in the children were 100.0%(14/14), 85.7%(12/14), and 64.3%(9/14), respectively. Five children experienced kidney disease recurrence. Compared with before the first dose of RTX treatment, the serum albumin and height significantly increased, while body mass index significantly decreased at the end of follow-up (all P<0.05). There was no statistically significant difference in urinary protein content, renal function, and IgG (all P>0.05). During the RTX treatment, all 14 children did not experience any infusion reaction, and there were no serious infections during follow-up. One case was diagnosed with hypogammaglobulinemia. Conclusions:RTX can improve the remission rate and recurrence rate of SRNS children, reduce the dosage of glucocorticoids and related drug untoward reaction, significantly improve patient height and BMI, with minimal side effects. Especially for SRNS patients who cannot be relieved by the combination of glucocorticoids and immunosuppressants, RTX may be considered.

Objective:To construct a questionnaire to measure parents′ behavioral and social drivers (BeSD) in administering rotavirus vaccine to their children, and to test the reliability and validity of the questionnaire.Methods:A questionnaire was constructed to investigate the BeSD of rotavirus vaccination among parents based on the WHO BeSD questionnaire. A survey was conducted among parents of children aged 0-3 years old in vaccination clinics from 15 community health service centers in Nanjing City of Jiangsu Province, Yuhuan and Kaihua Counties of Zhejiang Province, Anqing City of Anhui Province, and Yangpu District of Shanghai City from April to May in 2024. Exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) were used to analyze the reliability (internal consistency reliability, combination reliability and split half reliability) and validity (structural validity, convergence validity and discriminative validity) of the questionnaire.Results:A total of 850 questionnaires were collected, of which 614 were valid, with an effective response rate of 72.20%. The EFA resulted in the refinement of the rotavirus vaccine BeSD questionnaire from 37 to 35 items (including 24 core items), and suggested a five-factor structure including the perceptions of vaccine, confidence in vaccine, social process of vaccination, motivation for vaccination, and practical problems of vaccination. The cumulative variance contribution rate reached 56.27%. The CFA confirmed an ideal five-factor model fit (GFI=0.82,CFI=0.86,PNFI=0.67,RMSEA=0.07). The AVE of each dimension was greater than 0.50. The AVE square root of each dimension of the questionnaire was greater than its correlation coefficient. The Cronbach′s α coefficient of the total questionnaire was 0.79.Conclusion:The developed BeSD questionnaire of rotavirus vaccine has good reliability and validity, and can be used to measure parents′ behavioral and social factors in administering rotavirus vaccine to their children.

Objective:To analyze the clinical characteristics of renal abscess in children and provide suggestions for early diagnosis and treatment.Methods:The clinical data including general information, laboratory data, imaging results, treatment and prognosis of 20 pediatric patients with renal abscess admitted to the Department of Nephrology, Capital Center for Children's Health Capital Medical University were analyzed retrospectively.Results:A total of 8 males and 12 females were enrolled. The age of onset was 3.0 (0.8, 9.0) years. All cases had fever. Six cases presented with abdominal pain, 6 cases had poor appetite, 5 cases had vomiting and 5 cases urinary tract irritation symptoms. Laboratory data showed elevated white blood cells 20.4 (17.4,26.3)×10 9/L, C-reactive protein 126 (77, 154)mg/L, erythrocyte sedimentation rate 60 (41,73) mm/1 h in 20 cases and procalcitonin 4.7 (1.2,33.5)μg/L in 10 cases. Totally 18 cases had pyuria. Urine culture was positive in 8 cases. Enterococcus faecium and Pseudomonas aeruginosa was detected in 2 cases. Klebsiella pneumoniae was found in 1 case after performing blood culture. Renal abscess was confirmed in all cases by doing contrast-enhanced CT scan, while only 9 cases with abscesses were identified by using renal ultrasound. There were 14 cases with renal abscess formation confirmed at onset by performing magnetic resonance imaging. Nine cases were accompanied with congenital anomalies of the kidney and urinary tract. All cases received conservative medical treatment. Intravenous broad-spectrum antibiotics were administered for 23 (14, 39) d initially, while the medication in 11 cases were upgraded to meropenem or imipenem. Oral antibiotics were continued for 23 (14, 28) d after discharge in all cases. Within 1 year of follow-up, except for 1 case of recurrence, the others had a favorable prognosis. Conclusions:Renal abscess should be suspected for children presenting with unexplained fever, vomiting, abdominal pain, elevated white blood cell count, C-reactive protein, erythrocyte sedimentation rate and pyuria. Ultrasonography is suitable for screening and follow-up, while CT or magnetic resonance imaging can be used to confirm the diagnosis. Conservative management with broad-spectrum antibiotics is effective and can be considered the first-line therapy for pediatric renal abscess.

Objective To conduct a bibliometric and visual analysis of literature related to anti-microbial therapy for febrile neutropenia(FN)in recent years and explore the research trends and hotspots in this field.Methods The Web of Science database was searched to analyze the publica-tion trends,countries/regions,research institutions,journal distributions,author influences,and keyword co-occurrences.VOSviewer,CiteSpace,and Scimago Graphica software were utilized for mapping analysis to present the research hotspots and development trends of antimicrobial therapy for FN.Results A total of 536 articles were included.The average annual number of publications was approximately 43 from 2014 to 2019 and approximately 54 from 2020 to 2024,showing an upward trend.The United States had the highest number of publications(134 articles,accounting for 25.00％).The institution with the most publications was the University of Melbourne(18 articles).The author with the most publications was GUDIOL C(9 articles).Keyword clustering analysis revealed that the research hotspots were mainly concentrated in areas such as"febrile neutropenia","antimicrobial stewardship","immunocompromised hosts","risk assessment","cost-effectiveness analysis","empirical therapy"and"Staphylococcus aureus".Conclusion The number of publications on re-search related to antimicrobial therapy for FN has shown an upward trend in recent years.Antimicro-bial stewardship,treatment of immunocompromised hosts,control of drug resistance,and personalized therapy may become the main research directions in the future.

Metabolic associated fatty liver disease(MAFLD)is a type of fatty liver disease associated with systemic metabolic disorders,and its prevalence has been increasing year by year,becoming a major challenge to global public health.The development of MAFLD is associated with various factors,including obesity,dyslipidemia,diabetes and other factors.Excessive body fat,particularly increased visceral adiposity,contributes to hepatic fat accumulation.Abnormal blood lipid levels can also disrupt liver fat metabolism.The risk of MAFLD in patients with diabetes is greatly increased due to insulin resistance and other problems.Dietary interventions are considered an effective strategy for the prevention and treatment of MAFLD.In recent years,several dietary patterns,such as low-carbohydrate diets,intermittent fasting,and the Mediterranean diet,have been applied in clinical practice.Their primary mechanisms include reducing oxidative stress,regulating gut microbiota,and inducing fat autophagy.However,the responses to different dietary patterns vary among individuals due to differences in genes,lifestyle,and disease severity.Therefore,systematically evaluating the effects and mechanisms of these dietary patterns in the prevention and treatment of MAFLD has significant clinical importance.This review compares the effects of different dietary patterns on improving liver function,hepatic fat content,blood glucose,and lipid levels,and analyzes their underlying mechanisms of intervention,to explore how to select personalized dietary strategies based on individual differences.It is intended to provide new insights for the precise prevention and treatment of MAFLD,thereby improving patients' outcomes and alleviating the burden on public health.

Objective:To explore the diagnostic value and clinical application of metagenomic next-generation sequencing (mNGS) technology in pediatric urinary tract infections (UTI).Methods:In this retrospective study, the clinical data of children with UTI admitted to the Department of Nephrology, Children′s Hospital, Capital Institute of Pediatrics, from March 2023 to March 2024 were collected.The positive detection rates, timeliness, and consistency of mNGS technology were compared with those of urine culture.Measurement data were subject to test of normality.The independent sample t test, Chi-square test or Fisher′s exact probability test were used for comparison between groups. Results:A total of 193 patients were included.The positive detection rate of urine culture was 36.3% (70/193).Among 42 patients who underwent mNGS testing, 37 cases (88.1%) tested positive.The positive detection rate of mNGS was significantly higher than that of urine culture ( χ2=37.357, P<0.001).It took significantly less time to report mNGS results than to report urine culture results ( Z=3.524, P<0.001).In the 42 cases that underwent mNGS testing, 5 cases (11.9%) were negative for urine pathogens by both methods, and 21 cases (50.0%) were positive by mNGS but negative by urine culture.Among the remaining 16 cases (38.1%) positive by both mNGS and urine culture, 14 cases (33.3%) achieved fully matching results, 1 case (2.4%) was fully mismatched, and 1 case (2.4%) was partially matched.Comparison of the positive detection rate and the duration of anti-infective treatment prior to specimen collection between urine culture and mNGS showed that the median durations for urine culture and mNGS positivity were 5 and 20 days, and the difference was statistically significant ( χ2=0.537, P<0.001). Conclusions:mNGS technology has high sensitivity for diagnosing pathogens in pediatric UTI.Compared with urine culture, mNGS provides good consistency and significantly shortens the detection time.The positive detection rate is less affected by antimicrobial treatment.For children with UTI, especially those who have failed empirical anti-infective treatment and whose pathogen cannot be identified by urine culture, mNGS testing is recommended as early as possible.