Objective:To explore the clinical characteristics, diagnosis and treatment strategies, and prognosis of pulmonary embolism (PE) complicating childhood rheumatic diseases.Methods:A retrospective case series study was performed on the demographic data, laboratory indicators, imaging features, treatment regimens, and follow-up data of 8 children with rheumatic diseases complicated by PE who were admitted to the Department of Rheumatology and Immunology, Capital Center for Children′s Health, Capital Medical University from January 2014 to October 2023.Results:Among the 8 children, there were 4 boys and 4 girls, with an age of 12.0 (7.5, 13.0) years. Among the primary diseases, there were 3 cases of systemic lupus erythematosus, 2 cases of Beh?et′s disease, 2 cases of Takayasu arteritis, and 1 case of antiphospholipid syndrome. All children developed PE during the active phase of the primary disease. PE was detected at the onset of the primary disease in 3 cases, and the median time from the diagnosis of the primary disease to the development of PE was 10.0 (6.0, 25.0) months in the remaining 5 cases. Fever was present in all 8 children, 4 cases were accompanied by chest tightness, dyspnea, etc., and 2 cases only presented with fever. Laboratory examinations revealed the following results: erythrocyte sedimentation rate was 42.0 (17.0, 78.0) mm/1 h, high-sensitivity C-reactive protein was 12.7 (2.6, 78.7) mg/L, white blood cell count was 9.6 (7.2, 18.7)×10 9/L; D-dimer was 2.3 (0.9, 6.2) mg/L; and hemoglobin was (109±16) g/L.Imaging examinations revealed that 5 cases had involvement of the bilateral lower pulmonary arteries, 5 cases had peripheral embolism, and 3 cases had central PE. Complications included 3 cases of deep vein thrombosis, 2 cases of intracranial venous sinus thrombosis, and 1 case of mild pulmonary hypertension.In terms of treatment, 7 cases received anticoagulation with heparin followed by warfarin. Immunomodulation was mainly based on glucocorticoids combined with immunosuppressants, and 4 cases were combined with biological agents. The follow-up time of 4.17 (1.75, 7.17) years, the time for complete absorption of PE was 10.5 (6.0, 18.0) months; all 8 children had no target events, with no recurrence or chronic thromboembolic pulmonary hypertension, and the pulmonary artery remodeling was good. Conclusions:PE complicating childhood rheumatic diseases is closely related to the activity of the primary disease. The clinical manifestations are insidious, with fever as the main symptom. Imaging examination is the key to diagnosis.Early adoption of heparin followed by warfarin anticoagulation and glucocorticoids combined with immunosuppressants and (or) biological agents to control the primary disease can achieve a favorable prognosis.

Objective:To explore the clinical characteristics, diagnosis and treatment strategies, and prognosis of pulmonary embolism (PE) complicating childhood rheumatic diseases.Methods:A retrospective case series study was performed on the demographic data, laboratory indicators, imaging features, treatment regimens, and follow-up data of 8 children with rheumatic diseases complicated by PE who were admitted to the Department of Rheumatology and Immunology, Capital Center for Children′s Health, Capital Medical University from January 2014 to October 2023.Results:Among the 8 children, there were 4 boys and 4 girls, with an age of 12.0 (7.5, 13.0) years. Among the primary diseases, there were 3 cases of systemic lupus erythematosus, 2 cases of Beh?et′s disease, 2 cases of Takayasu arteritis, and 1 case of antiphospholipid syndrome. All children developed PE during the active phase of the primary disease. PE was detected at the onset of the primary disease in 3 cases, and the median time from the diagnosis of the primary disease to the development of PE was 10.0 (6.0, 25.0) months in the remaining 5 cases. Fever was present in all 8 children, 4 cases were accompanied by chest tightness, dyspnea, etc., and 2 cases only presented with fever. Laboratory examinations revealed the following results: erythrocyte sedimentation rate was 42.0 (17.0, 78.0) mm/1 h, high-sensitivity C-reactive protein was 12.7 (2.6, 78.7) mg/L, white blood cell count was 9.6 (7.2, 18.7)×10 9/L; D-dimer was 2.3 (0.9, 6.2) mg/L; and hemoglobin was (109±16) g/L.Imaging examinations revealed that 5 cases had involvement of the bilateral lower pulmonary arteries, 5 cases had peripheral embolism, and 3 cases had central PE. Complications included 3 cases of deep vein thrombosis, 2 cases of intracranial venous sinus thrombosis, and 1 case of mild pulmonary hypertension.In terms of treatment, 7 cases received anticoagulation with heparin followed by warfarin. Immunomodulation was mainly based on glucocorticoids combined with immunosuppressants, and 4 cases were combined with biological agents. The follow-up time of 4.17 (1.75, 7.17) years, the time for complete absorption of PE was 10.5 (6.0, 18.0) months; all 8 children had no target events, with no recurrence or chronic thromboembolic pulmonary hypertension, and the pulmonary artery remodeling was good. Conclusions:PE complicating childhood rheumatic diseases is closely related to the activity of the primary disease. The clinical manifestations are insidious, with fever as the main symptom. Imaging examination is the key to diagnosis.Early adoption of heparin followed by warfarin anticoagulation and glucocorticoids combined with immunosuppressants and (or) biological agents to control the primary disease can achieve a favorable prognosis.

OBJECTIVE: To provide preimplantation genetic testing (PGT) for a patient with Incontinentia pigmenti (IP) due to IKBKG gene variant but without family samples through construction of single nucleotide polymorphism (SNP)-based haplotype by Long-read sequencing (LRS) technology. METHODS: A female IP patient with a heterozygous IKBKG c.1167dup variant but without family genetic data who sought genetic counseling at Women and Children' Hospital of Ningbo University in November 2021 was selected as the study subject. The IKBKG gene has a highly homologous pseudogene IKBKGP1. Genomic DNA was extracted from peripheral blood samples from the couple, and LRS was used to obtain informative SNP loci flanking the variant locus, enabling the construction of SNP haplotype with a long segment spanning from the non-homologous region of IKBKG to the variant site. Trophoblast cells were biopsied from blastocysts fertilized through intracytoplasmic sperm injection, and next-generation sequencing (NGS) was used to determine the SNP information of the embryos. Linkage analysis with the parental SNP haplotypes was conducted to detect the carrier status of the embryos and exclude chromosomal aneuploidies. Sanger sequencing was carried out to validate the result. A euploid embryo without the pathogenic variant was selected for transfer. Prenatal diagnosis was carried out by amniocentesis at mid-trimester to verify the result of PGT tests, and follow-up was conducted after the baby was born. This study has been approved by the Ethics Committee of Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094). RESULTS: A total of seven blastocysts were tested, and PGT results indicated that two embryos were euploid and did not carry the pathogenic variant. One euploid embryo was transferred, which resulted in a singleton pregnancy. Amniocentesis at 24 weeks of gestation confirmed that the status of fetal IKBKG gene, and its chromosomal status was consistent with the PGT results. A healthy male infant was born at 38+6 weeks of gestation. CONCLUSION For IP patients with de novo mutation or without family genetic samples, PGT with LRS can directly construct the SNP-based haplotype while avoiding interference from pseudogenes, providing an effective strategy for PGT.
Female ; Humans ; Male ; Pregnancy ; Genetic Testing/methods* ; Haplotypes/genetics* ; High-Throughput Nucleotide Sequencing/methods* ; I-kappa B Kinase/genetics* ; Incontinentia Pigmenti/diagnosis* ; Polymorphism, Single Nucleotide/genetics* ; Preimplantation Diagnosis/methods* ; Infant, Newborn

Objective:To establish criteria for diagnosing lymph node metastasis (LNM) in newly diagnosed papillary thyroid cancer (PTC) patients based on 18F-FDG PET/MR and evaluate its diagnostic efficiency. Methods:The data of 14 patients with PTC (all females, age (38.8±13.5) years) who underwent 18F-FDG PET/MR and ultrasound sequentially 2 weeks before surgery at the First Affiliated Hospital of the Air Force Medical University from May 2021 to August 2023 were retrospectively analyzed. Visual and semi-quantitative assessments were performed on all patients step by step (Ⅱ-Ⅵ area) and neck by neck (left, right, and central area). The dimensions of all suspected lymph nodes were measured on T 2 weighted imaging (WI)-MRI and SUV max was measured on PET. Taking postoperative pathology as the reference standard, the independent risk factors for predicting LNM were determined by multivariate logistic regression analysis, and the diagnostic efficiency of each model was evaluated by ROC curve analysis. Results:A total of 21 macroscopic regions of lymph nodes(15 were malignant, 6 were benign) and 178 lymph nodes (120 were malignant, 58 were benign) were cleared by surgery. Multivariate logistic regression analysis showed that SUV max (odds ratio ( OR)=1.865, 95% CI: 1.323-2.630, P<0.001) and short diameter on MRI (SD-MRI) ( OR=1.752, 95% CI: 1.189-2.580, P=0.005) were independent predictors of LNM. The cut-off value of SD-MRI in predicting LNM was 5.7mm (AUC=0.812, Youden index (YI)=0.463). For the SD-MRI cut-off values ≥5.7 or <5.7mm, the corresponding SUV max cut-off values were 1.6 and 1.8, respectively. When " dual threshold" quantitative criteria (SD-MRI≥5.7mm + SUV max≥1.6 or SD-MRI<5.7mm + SUV max≥1.8) was used as the diagnostic criteria of 18F-FDG PET/MR, the AUC and YI could be improved to 0.909 and 0.818. Based on the regional level analysis, sensitivity, specificity, and accuracy of LNM diagnosis by ultrasound, MRI, and 18F-FDG PET/MR " dual threshold" criteria were 11/15 vs 12/15 vs 13/15, 5/6 vs 3/6 vs 5/6, 76.2%(16/21) vs 71.4%(15/21) vs 85.7%(18/21), respectively. Conclusion:Compared with the ultrasound and MRI, the 18F-FDG PET/MR " dual threshold" criteria exhibits higher sensitivity and accuracy in determining the scope of LNM clearance for PTC patients.

AIM To investigate the protective effect of Sanfeng Tongqiao Dropping Pills against house dust mite(HDM)-induced allergic asthma in mice.METHODS Compared to the intact BALB/c mice in the blank control group,the BALB/c mice randomly assigned into the model group,the dexamethasone group(0.67 mg/kg),and the low-dose,medium-dose,and high-dose Sanfeng Tongqiao Dropping Pills groups(15,30 and 60 mg/kg),were induced into acute allergic asthma models via weekly intraperitoneal sensitization with 0.1 mL HDM solution(0.5 mg/mL)for three weeks followed by three consecutive daily intranasal challenges with 10 μL HDM solution(2.5 mg/mL)starting in the third week.The drug administered continuously 7 days after the last excitation.The mice had their airway reactive Penh value detected,their pulmonary pathological changes observed by HE staining,their blood eosinophils(EOS)counted,their Th2 cytokines in lung tissue and serum IgE levels detected by ELISA,and their number of peripheral blood mononuclear cells(PBMC)and pulmonary Th2 cells detected by flow cytometry.Chronic allergic asthma was induced in grouped BALB/c mice through repeated intranasal challenges with 10 μL HDM solution(2.5 mg/mL)administered five times weekly for five consecutive weeks.Drug treatment continued for 14 days following the final challenge.After the final treatment,the mice had their pulmonary pathological changes observed by HE staining,and their levels of Th2 cytokines in B ALF and lung tissue and serum IgE detected by ELISA.RESULTS Compared to the blank control group,the acute allergic asthma model group exhibited increases in Penh value,EOS count and IgE level in serum,IL-4 and IL-5 levels in lung tissue(P＜0.01);obvious pulmonary inflammatory cells infiltration,and thickened airway wall;and increase in pulmonary number of Th2 cells(P＜0.01).Compared to the model group,the groups intervened with Sanfeng Tongqiao Dropping Pills demonstrated decreased Penh value,serum EOS count,IgE level and IL-5 level in lung tissue(P＜0.05,P＜0.01);reduced pulmonary inflammatory infiltration and alleviated airway wall thickening;and decreased number of pulmonary Th2 cells.Compared to the blank group,the chronic allergic asthma model group showed obvious pulmonary inflammatory infiltration and airway wall thickening;and increased EOS count and IgE level in serum,IL-4 and IL-13 in lung tissue and IL-14 in BALF(P＜0.05,P＜0.01).Compared to the model group,the groups intervened with either medium-dose or high-dose Sanfeng Tongqiao Dropping Pills demonstrated reduced pulmonary inflammatory infiltration;and decreased serum EOS count,IgE level,IL-13 in lung tissue and IL-14 in BALF(P＜0.05,P＜0.01).CONCLUSION Sanfeng Tongqiao Dropping Pills reduce Th2 cells in peripheral blood and lung tissue,suppress type 2 inflammation,and thereby alleviate allergic asthma.

Objective To design a precision nutrition information management system to improve clinical nutrition diagnosis and treatment.Methods A precision nutrition information management system was developed with such technologies as Internet,big data and remote diagnosis and treatment,which was composed of a hardware system and a software system.The hardware system consisted of a Web and interface server,a database server,a front-end server,a personal digital assistant,a barcode scanner and a label printer;the software system with B/S architecture encapsulated business functions into reusable and easily expandable modular components based on.NET technology stack,which was made up of three subsystems for outpatient nutrition diagnosis and treatment,inpatient nutrition diagnosis and treatment and nutrition stocking management.Results The system developed realized data sharing and interaction among multi information systems,and contributed to implementing rational,normalized and efficient outpatient nutrition diagnosis and treatment,inpatient nutrition support and nutrition stocking management.Conclusion The system developed meets the requirements for clinical nutrition diagnosis and treatment and enhances clinical nutrition service.[Chinese Medical Equipment Journal,2025,46(10):41-48]

Objective The aim of this study was to explore the acceptance and influencing factors of self-collected urine samples for human papillomavirus(HPV)testing in cervical cancer screening among eligible women,and to provide scientific evidence for promoting this testing in low resource areas.Methods A population-based cross-sectional study was conducted from 2022 to 2023 at the Maternal and Child Health Hospital in Shuangliu district,Chengdu City Sichuan Province.The study subjects were women aged 21 to 69 years old,and a customized questionnaire was used to conduct general information and acceptance surveys on the partic-ipants.Results A total of 2,062 women were included,with an average age of 51.58±9.34 years.Among them,1,501(72.79％)women believed that self-sampling urine was very easy.However,although 1,333(64.65％)women were still willing to accept doctor sampling as a cervical cancer screening method,only 729(35.35％)were more willing to accept self-sampling urine HPV testing.Age,educational level,annual household income,awareness of HPV,HPV vaccination status,and a sense of shame about the doctor's sampling process were all associated with the acceptance of self-collected urine HPV testing among women undergoing cervical cancer screening(P＜0.001).The results of multivariate logistic regression analysis indicated that older women(OR=0.965,95％CI:0.951-0.979)and those who were not familiar with HPV(OR=0.760,95％CI:0.602-0.961)were more likely to undergo self sampling urine HPV testing,while those with junior high school education(OR=1.330,95％CI:1.053-1.682),high school education or a-bove(OR=1.990,95％CI:1.401-2.827),and a sense of shame towards the doctor's sampling process(OR=2.314,95％CI:1.706-3.142)were more likely to undergo self sampling urine for HPV testing.Conclusions Most women believe that self sampling urine for HPV testing is very easy,but compared to doctor sampling,only some women choose to self sample urine for HPV testing.Key health education interventions should be carried out for older and lower educated populations to promote acceptance of urine HPV testing.

Objective To report the diagnosis,treatment,and verification process of a patient with sex development disorder whose chromosomal karyotype and genetic test results are inconsistent,and conduct a literature review to improve the understanding of the mosaic status of sexual development disorders.Methods A 14-year-old patient presented with primary amenorrhea on April 3,2020,at the First Affiliated Hospital of Hebei North University,exhibiting female sexual characteristics.The patient underwent ultrasonic/magnetic resonance imaging of gonads,assessment of gonadal axis function,chromosomal karyotype,and molecular genetic testing,as well as pelvic exploration,malignant gonads resection,and hormone replacement therapy,resulting in drug-induced menstruation.During the diagnosis and treatment,it was found that the patient's chromosomal karyotype analysis was inconsistent with the molecular genetic test results.Subsequently,samples from the three germ layer cells were taken,and fluorescence in situ hybridization(FISH)was used to detect the sex chromosomes in each germ layer cell.XY probes were used to label the gonadal pathological sections to explore the distribution differences of the Y chromosome in the gonads,and changes in anti-Müllerian hormone(AMH)levels before and after surgery were compared.Databases such as Wanfang and PubMed were searched to summarize relevant cohort study literature and understand the current status of research on this disease.Results The patient's body exhibited a significant differences between the 45,X and 46,XY cell lines in different germ layers and within the same layer tissues.The proportion of 45,X in buccal mucosal cells derived from the ectoderm was 30%(6/20),in peripheral blood lymphocytes derived from the mesoderm was 9.7%(11/114),and in bladder shed cells derived from endoderm was 20.4%(22/108).The gonadal pathological sections labeled with XY probes indicated a mosaic state with a reduced Y-chromosome;where the epididymal structure area had a 45,X cell line mosaic of 50.0%,and the malignant area had a normal"Y"content.After gonadal resection,AMH levels significantly dropped from 7.28 pmol/L to＜0.07 pmol/L.Literature review revealed that patients with 45,X/46,XY have a complex phenotype spectrum,most with features of Turner syndrome,and female phenotypes are at risk of gonadal tumors.Conclusions In the diagnosis of difficult cases of sex development disorders,when performing peripheral blood karyotype testing,the number of counted cells and analyzed cells should be increased as much as possible,and multi-germ layer cell sampling should be performed.Gonads with a high"Y"mosaic rate are more prone to malignancy in the abdominal cavity.Detecting AMH levels can distinguish cryptorchidism and anorchidism in sexual development disorders with Y chromosomes.

Chikungunya fever is spreading continuously worldwide，posing a growing public health challenge alongside other arboviral diseases. This article systematically reviews the epidemiological characteristics of chikungunya fever，analyzes the pandemic potential of Aedes mosquito-borne diseases and discusses integrated prevention and control strategies for China in the context of increasing importation risk，drawing on containment practices from multiple countries and regions.

Objective The aim of this study was to explore the acceptance and influencing factors of self-collected urine samples for human papillomavirus(HPV)testing in cervical cancer screening among eligible women,and to provide scientific evidence for promoting this testing in low resource areas.Methods A population-based cross-sectional study was conducted from 2022 to 2023 at the Maternal and Child Health Hospital in Shuangliu district,Chengdu City Sichuan Province.The study subjects were women aged 21 to 69 years old,and a customized questionnaire was used to conduct general information and acceptance surveys on the partic-ipants.Results A total of 2,062 women were included,with an average age of 51.58±9.34 years.Among them,1,501(72.79％)women believed that self-sampling urine was very easy.However,although 1,333(64.65％)women were still willing to accept doctor sampling as a cervical cancer screening method,only 729(35.35％)were more willing to accept self-sampling urine HPV testing.Age,educational level,annual household income,awareness of HPV,HPV vaccination status,and a sense of shame about the doctor's sampling process were all associated with the acceptance of self-collected urine HPV testing among women undergoing cervical cancer screening(P＜0.001).The results of multivariate logistic regression analysis indicated that older women(OR=0.965,95％CI:0.951-0.979)and those who were not familiar with HPV(OR=0.760,95％CI:0.602-0.961)were more likely to undergo self sampling urine HPV testing,while those with junior high school education(OR=1.330,95％CI:1.053-1.682),high school education or a-bove(OR=1.990,95％CI:1.401-2.827),and a sense of shame towards the doctor's sampling process(OR=2.314,95％CI:1.706-3.142)were more likely to undergo self sampling urine for HPV testing.Conclusions Most women believe that self sampling urine for HPV testing is very easy,but compared to doctor sampling,only some women choose to self sample urine for HPV testing.Key health education interventions should be carried out for older and lower educated populations to promote acceptance of urine HPV testing.