OBJECTIVE: To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. METHODS: A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01). RESULTS: No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360). CONCLUSION For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans ; Female ; Mosaicism ; Pregnancy ; Karyotyping/methods* ; Artificial Intelligence ; Prenatal Diagnosis/methods* ; Adult ; Retrospective Studies ; Chromosome Disorders/genetics* ; Amniocentesis

Objective: To evaluate the current situation of thermal environment in primary and secondary school classrooms during winter, and to analyze students thermal comfort needs, so as to provide a basis for improving classroom thermal environment. Methods: From December 16 to 26, 2024, a stratified cluster random sampling method was used to select 90 classrooms from 15 primary and secondary schools in centralized/air conditioned heating areas(Liaoning Province, Tianjin City, Shanghai City) and naturally ventilated areas(Anhui Province and Jiangxi Province)for on site environmental measurement. A questionnaire survey was conducted among 743 students. The differences between groups using the χ 2 test were compared. Based on actual measurement data, a predicted mean vote prepared percentage of dissatisfied (PMV-PPD) model for centralized/air conditioned classrooms and an adaptive model for naturally ventilated classrooms were established, and the thermal neutral temperature and comfort interval were calculated. Results: The average outdoor temperature during on site measurement was 4.00(0.20，7.00)℃. In classrooms with centralized or air conditioned heating systems, the measured average temperature was (19.33±2.59)℃, with a thermal comfort range of 20.35-25.35 ℃ and a thermal neutral temperature of 22.85 ℃. And 13.92% of students reported feeling cold, while 80.80% felt comfortable. In classrooms with natural ventilation, the measured average temperature was (12.26±1.83)℃, with a thermal neutral temperature of 19.67 ℃ and a thermal comfort range of 16.17-23.17 ℃. About 48.33% of students reported feeling cold, and 49.81 % felt comfortable.The results of univariate analysis showed that there were statistically significant differences in shoe thickness, temperature sensation, relative humidity sensation and wind speed sensation between centralized/air conditioned heating areas ( χ 2= 7.01 , 31.47, 13.57, 13.80,all P <0.05). There were also statistically significant differences in school stage for primary and secondary school students, body mass index, classroom location for seat, temperature sensation, relative humidity sensation and wind speed sensation between naturally ventilated areas ( χ 2=42.13, 11.13, 11.04, 60.39, 29.27, 38.46,all P <0.05). Conclusions There are differences in thermal environment and students subjective thermal comfort in primary and secondary schools under different ventilation modes in winter. The temperature standards for heated classrooms should be revised, and differentiated environmental regulation strategies should be adopted based on different ventilation methods to improve students health and comfort levels.

ObjectiveTo evaluate the effects of Tongnaoyin on the blood-brain barrier status and neurological impairment in acute ischemic stroke （AIS） patients with the syndrome of phlegm-stasis blocking collaterals by dynamic contrast-enhanced magnetic resonance imaging （DCE-MRI）. MethodsA total of 63 patients diagnosed with AIS in the Jiangsu Province Hospital of Chinese Medicine from October 2022 to December 2023 were enrolled in this study. According to random number table method，the patients were assigned into a control group （32 cases） and an observation group （31 cases）. The control group received conventional Western medical treatment，and the observation group took 200 mL Tongnaoyin after meals，twice a day from day 2 of admission on the basis of the treatment in the control group. After 7 days of treatment，the patients were examined by DCE-MRI. The baseline data for two groups of patients before treatment were compared. The National Institute of Health Stroke Scale （NIHSS） score and modified Rankin Scale （mRS） score were recorded before treatment and after 90 days of treatment for both groups. The rKtrans，rKep，and rVe values were obtained from the region of interest （ROI） of the infarct zone/mirror area and compared between the two groups. ResultsThere was no significant difference in the NIHSS or mRS score between the two groups before treatment. After 90 days of treatment，the NIHSS and mRS scores declined in both groups，and the observation group had lower scores than the control group （P<0.05）. After treatment，the rKtrans and rVe in the observation group were lower than those in the control group （P<0.01）. ConclusionCompared with conventional Western medical treatment alone，conventional Western medical treatment combined with Tongnaoyin accelerates the repair of the blood-brain barrier in AIS patients，thereby ameliorating neurological impairment after AIS to improve the prognosis.

The Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis （GS/CACM 337-2023） was released by the China Association of Chinese Medicine on December 13^th， 2023. This expert consensus was developed by experts in methodology， pharmacy， and Chinese medicine in strict accordance with the development requirements of the China Association of Chinese Medicine （CACM） and based on the latest medical evidence and the clinical medication experience of well-known experts in the fields of respiratory medicine （pulmonary diseases） and pediatrics. This expert consensus defines the application of Qinbaohong Zhike oral liquid in the treatment of cough and excessive sputum caused by phlegm-heat obstructing lung， acute bronchitis， and acute attack of chronic bronchitis from the aspects of applicable populations， efficacy evaluation， usage， dosage， drug combination， and safety. It is expected to guide the rational drug use in medical and health institutions， give full play to the unique value of Qinbaohong Zhike oral liquid， and vigorously promote the inheritance and innovation of Chinese patent medicines.

Objective:To compare the efficacy and safety of LY01011,a recombinant anti-RANKL fully human monoclonal antibody injection,versus denosumab in the treatment of bone metastases from solid tumors.Methods:A randomized,double-blind,positive drug parallel-controlled,multicenter clinical trial was conducted.A total of 850 subjects were randomly assigned(1:1)to either the experimental group(424 subjects)or the control group(426 subjects).The experimental group received 13 doses of LY01011,while the control group received 3 doses of denosumab followed by 10 doses of LY01011.Results:The primary efficacy endpoint was the natural logarithmic change from baseline in urinary N-terminal telopeptide of type I collagen corrected by urinary creatinine(uNTX/uCr)at week 13.The change was-1.740(0.042 0)in the experimental group and-1.745(0.042 1)in the control group.The least-squares mean difference between groups was 0.005(90%CI:-0.088 to 0.097),indicating no statistically significant difference(P>0.05).Safety profiles,including treatment-emergent adverse events,laboratory tests,vital signs,physical examinations,and electrocardiograms,were comparable between groups(P>0.05).Conclusions:LY01011 demonstrated biosimilarity to denosumab,with favorable safety profile,tolerability,and potential for clinical application.

Objective To investigate the diagnosis and treatment of multiple testicular Leydig cell tumors presenting with azoospermia.Methods Clinical data of a case of multiple testicular Leydig cell tumors presenting with azoospermia as well as re-lated article were reviewed.Results The patient visited the doctor due to"failure to conceive after 3 years of regular unprotect-ed sexual intercourse",and two consecutive semen analyses both indicated azoospermia.Testicular color Doppler ultrasound,en-hanced CT and pelvic MRI all suggested testicular space-occupying lesions.Preoperative evaluation suggested benign testicular tumors.Intraoperative frozen section pathology confirmed Leydig cell tumors.Microscopic testis-sparing tumor enucleation and microsurgical testicular sperm extraction(mTESE)were performed,with no sperm identified intraoperatively.The patient under-went successful tumor resection without complications.During the 12-month follow-up period,no tumor recurrence or metastasis was observed.Seminal volume increased compared to pre-operative levels,but azoospermia persisted.Conclusions Testicular Leydig cell tumor is a rare neoplasms originating from the gonadal stroma.Preoperative diagnosis is difficult.Radical orchiectomy is the primary treatment modality.However,testis-sparing tumor enucleation may be a safe and effective alternative for patients with bilateral testicular tumors.Tumor enucleation with testicular preservation is also a safe and effective choice for the patients with small-sized lesions or prepubertal status,whereas a long-term close follow-up is strictly implemented.

Objectives To explore the causal relationship between asthma-related pneumonia and heart failure(HF)by using two-sample Mendelian randomization(MR)analysis.Methods The causal relationship between asthma-related pneumonia and HF were systematically evaluated through two-sample MR analysis based on publicly available Genome-Wide Association Study data.Inverse variance weighted(IVW),MR-Egger,weighted median,weighted mode,and simple mode methods were used.Different models were used to analyze sensitivity.Testing approaches were conducted to assess the robustness of the results.Results IVW analysis results showed that there was a causal relationship between asthma-related pneumonia and HF risk(OR=1.113,95％CI:1.027-1.206,P=0.009).HF was not found to have a causal effect on asthma-related pneumonia risk based on IVW analysis(OR=1.018,95％CI:0.780-1.328,P=0.893).The variance used in all MR analyses showed no heterogeneity or horizontal pleiotropy.The leave-one-out analysis revealed that no single nucleotide polymorphism disproportionately influenced the results,further confirming the credibility of the bidirectional MR findings.Conclusion This study established a causal relationship between asthma-related pneumonia and HF risk.No clear causal relationship between HF and asthma-related pneumonia risk was found.

Objective:To analyze the clinical characteristics and treatment outcomes of children with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) antibody-mediated necrotizing myopathy, and to explore early identification and management strategies to provide reference for clinical diagnosis and treatment.Methods:A retrospective analysis was conducted on the clinical data and treatment outcomes of 10 pediatric patients with anti-HMGCR antibody-mediated necrotizing myopathy admitted to the Department of Rheumatology, Children′s Hospital of Fudan University from December 2020 to December 2024. Statistical description was performed using SPSS 22.0.Results:Among the 10 patients, the male-to-female ratio was 1:4, the age of onset was (7.2±4.0) years, and the disease duration at diagnosis was (22.2±19.6) months. None had a history of statin exposure. Six patients presented with muscle weakness, and4 were diagnosed due to asymptomatic elevation of creatine kinase (CK); 4 had dermatomyositis-like rashes. All patients showed significantly elevated CK levels [median 3 291(1 969, 8 776)U/L] and underwent muscle biopsy. Histopathological findings revealed myofiber degeneration, necrosis, and regeneration in all cases, with inflammatory infiltration in 9 cases, MHC-Ⅰ positivity in all, and C5b-9 positivity in 9 cases. The median follow-up duration was (15.7±6.3) months. At the last follow-up, muscle strength was normal or nearly normal, and the CK median value had decreased to 977.5 (211.0, 3 536.0) U/L.Conclusion:For patients with suspected idiopathic inflammatory myopathy and significantly elevated CK, muscle-specific antibody testing-including anti-HMGCR-and muscle biopsy should be performed promptly regardless of the presence of skin rash, to ensure accurate diagnosis and guide treatment, thereby avoiding misdiagnosis or missed diagnosis.

Objective:To analyze the efficacy of combination of peginterferon α-2b（Peg-IFN α-2b）with nucleos（t）ide analogues（NAs）on antiviral therapy in children with chronic hepatitis B（CHB）and to provide an optimized clinical treatment strategies for CHB children.Methods:A retrospective analysis was conducted on 30 CHB children treated in The First Affiliated Hospital of the Army Medical University（Southwest Hospital）from January 2022 to January 2025 with treatment duration at least 48 weeks. The enrolled children were aged between 2 and 17 years and divided into the NAs combined with Peg-IFN α-2b（NPI）group（n=13）and NAs group（n=17）by their therapy regimens. The characteristics of baseline，week 12，week 24，week 48 and week 96 were compared between groups，as well as the differences in response to biochemical，immune and viral indicators at each observation point. Logistic regression analysis and receiver operating characteristic（ROC）curve analysis were performed to identify factors influencing the HBsAg seroclearance. Results:At baseline of treatment，the proportion of HBeAg positivity in the NPI group and the NAs group was high（76.9% vs 86.6%， χ2=0.679， P=0.628），and the alanine aminotransferase（ALT）and aspartate aminotransferase（AST）in the NPI group were significantly lower than those in the NAs group（ P<0.001）. At 24 weeks，the decrease in HBsAg in the NPI group was also significantly higher than that in the NAs group（ Z=-3.161， P=0.002）. Finally，the cumulative seroclearance rate of HBsAg at 96 weeks in the NPI group was significantly higher than that in the NAs group（46.15% vs 5.88%， χ2=0.679， P=0.025）. Mulitivariate Logistic regression analysis showed that treatment regimen and gender were risk factors affecting the outcome of HBsAg（ P<0.05）. ROC curve analysis showed that the increase in ALT at 12 weeks compared with baseline（AUC=0.857，Cutoff value=3.615 IU/L），the decrease in ALT at 24 weeks（AUC=0.870，Cutoff value=47.85 IU/L），and the decrease in HBsAg at 12 weeks and especially at 24 weeks（AUC=0.885，Cutoff value=0.97log IU/ml）were effective predictors of HBsAg prognosis at 96 weeks. Conclusion:In CHB children，antiviral regimen Peg-IFN α-2b combined with NAs was more effective than NAs alone in improving the HBsAg seroclearance rate of CHB，and the effects in female were better than in male. The decline of HBsAg and the fluctuation of ALT in the early treatment period are valid predictors of HBsAg clearance.

Objective To investigate the early dynamic changes of biomarkers associated with capillary leak syndrome(CLS)in patients with severe acute pancreatitis(SAP)and their correlation with multiple organ failure(MOF).Methods A total of 171 SAP patients admitted to the West China Centre of Excellence for Pancreatitis,West China Hospital,Sichuan University between September 1,2019 and December 31,2020 were enrolled for this study.The patients were divided into MOF and non-MOF groups based on the occurrence of MOF in the first 5 days of hospitalization,and were further divided into subgroups based on the presence of moderate-to-severe intra-abdominal hypertension(IAH).We performed dynamic monitoring of the blood biomarkers(hematocrit[HCT].blood urea nitrogen[BUN].and creatinine[Cr]),plasma proteins(albumin[Alb].total protein[TP].and non-albumin plasma proteins[NAPP]),and intra-abdominal pressure.Trends in these indicators across groups were analyzed comprehensively.Results No significant differences in baseline data between the two groups were observed.The baseline data of the 2 groups were comparable.The MOF group had significantly higher rates of persistent systemic inflammatory response syndrome(SIRS)lasting 48 hours(91.3％vs.71.8％),ICU admission(70.4％vs.17.6％),and length-of-stay([32±17.7]days vs.[19.0±12.2]days)compared to those of the non-MOF group(P＜0.05).The incidences of respiratory,circulatory,and renal failures were higher in the MOF group than those in the non-MOF group,showing significant differences in circulatory failure(69％vs.3.5％)and renal failure(65.5％vs.3.5％)(P＜0.05).In the first 5 days of hospitalization,the MOF group showed significantly elevated BUN and Cr levels,while Alb and TP levels dropped rapidly upon admission and then gradually recovered.The NAPP level of the MOF group continued to decrease after admission,and on the third day after admission,the NAPP level was lower than that of the Non-MOF group,showing statistically significant difference(P＜0.001).The Alb/NAPP ratio of the MOF group decreased significantly on day 1 and then rapidly increased,showing significant differences between the groups on days 3 and 4(P=0.001).Subgroup analysis of MOF patients with moderate-to-severe IAH revealed similar trends in the dynamic changes and the overall changes in the indicators,and the difference was even more pronounced.The mixed linear model showed that the average levels of HCT,BUN,Alb/NAPP,and Alb/TP were higher and increased over time in the MOF combined with IAP subgroup(P＜0.001).Conclusion The CLS model of SAP patients is validated,confirming that CLS is a key factor in the progression from SIRS to MOF.The loss of NAPP is an early and important indicator of CLS persistence and progression to MOF.Additionally,moderate-to-severe IAH accelerates the deterioration of MOF.These findings provide valuable insights into the potential mechanisms of MOF and warrant further validation through large-scale prospective studies.