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

ObjectiveTo compare the differences in color， odor， coumarin content and microbial community composition of Angelicae Dahuricae Radix（ADR） during different drying processes， and to explore the correlation between changes in microbial community composition and changes in quality indexes of ADR. MethodsThe fresh ADR was processed at three drying temperatures（50， 70， 100 ℃） by drying and steaming cutting， semi-fresh cutting and drying， fresh cutting and drying， and sulfur fumigation methods. The color values of samples were extracted by Adobe Photoshop 2022 software and subjected to principal component analysis（PCA）， electronic nose was used to identify the odor information of medicinal powders and subjected to loadings analysis， PCA， and linear discriminant analysis（LDA）， and high performance liquid chromatography（HPLC） was used to determine the contents of five coumarins（bergapten， oxypeucedanin， imperatorin， phellopterin， isoimperatorin）. The samples for microbial detection were taken from fresh dried samples， 50 ℃（dried and steamed cut， sulfur fumigated） samples， and 100 ℃（dried and steamed cut） samples when the water content was 50% and 14%， respectively. And the changes of microbial community composition during processing were determined by high-throughput sequencing method. The relationship between the changes of microbial community composition and the changes of odor， color and active component content of ADR during drying process was analyzed by Pearson correlation analysis. ResultsThe color quantification results showed that an increase in drying temperature led to the decrease of brightness value（L）， and the increases of red-green value（a） and yellow-blue value（b）， and the change of processing method had no obvious effect on the color of medicinal materials. The results of odor quantification showed that W1S， W2S， W5S， W2W and W1W sensor were sensitive to the odor changes of ADR and could be used to distinguish ADR decoction pieces from different processing methods. The results of HPLC showed that the coumarin content of ADR decreased with the increase of drying temperature and the delay of processing time， the optimal processing method was drying and steaming cutting method， and the optimal temperature was 50 ℃. High-throughput sequencing results showed that the dominant bacteria in ADR during processing were Achromobacter， Agrobacterium， Nocardioides， Mycobacterium and Enterobacter， the dominant fungi were Coprinopsis， Meyerozyma and Apiotrichum. The results of correlation analysis showed that the quality indexes of ADR were positively correlated with Agrobacterium， Mycobacterium in bacteria， Candida in fungi， and negatively correlated with Bacillus in bacteria. ConclusionThere are significant differences in the color， odor， coumarin content and microbial community composition of ADR in different drying processes， and the best drying method is drying and steaming cutting at 50 ℃. The relative abundance changes of 9 bacterial genera and 4 fungal genera are closely related to the quality formation of ADR during the drying process.

Objective To investigate the impacts of percutaneous endoscopic interlaminar discectomy(PEID)on pain level and lumbar function in patients with lumbar disc herniation(LDH).Methods From January 2022 to August 2023,84 patients were diagnosed with L4/5 LDH based on clinical data and imaging information were selected as the study subjects.And they were assigned into 42 cases in experimental group and 42 cases in traditional groups complying with treatment methods.The traditional group underwent traditional open approach treatment,while the experimental group underwent PEID.The surgical indicators(including hospitalization time,surgical time,bed rest time,and intraoperative fluoroscopy frequency),the levels of interleukin-6(IL-6)and tumor necrosis factor-α(TNF-α)were compared between the two groups,the visual analogue scale(VAS)score and Oswestry disability index(ODI)were used to quantify the pain level of waist and lower limbs and lumbar function,and the excellent and good rate of clinical satisfaction and the incidence of complications were compared.Results The hospitalization time and bed rest time of the experimental group were obviously shorter than those of the traditional group,while the fluoroscopy frequency was less than that of the traditional group,and surgical time was longer than that of the traditional group,the differences were statistically significant(P＜0.05).After treatment,the pain VAS score and ODI of waist and lower limbs,the IL-6,and TNF-α in the two groups were lower than those before treatment,the experimental group was lower than the traditional group,the differences were statistically significant(P＜0.05).The excellent and good rate of the experimental group and the traditional group were 88.10％and 83.33％,respectively,with no statistically significant difference(P＞0.05).There was no statistically significant difference in the total incidence of complications between the two groups(P＞0.05).Conclusion PEID surgery can effectively alleviate nerve compression,alleviate pain of waist and lower limbs,promote the recovering of lumbar function,and facilitate postoperative recovery in LDH patients.

Objective To investigate the impacts of percutaneous endoscopic interlaminar discectomy(PEID)on pain level and lumbar function in patients with lumbar disc herniation(LDH).Methods From January 2022 to August 2023,84 patients were diagnosed with L4/5 LDH based on clinical data and imaging information were selected as the study subjects.And they were assigned into 42 cases in experimental group and 42 cases in traditional groups complying with treatment methods.The traditional group underwent traditional open approach treatment,while the experimental group underwent PEID.The surgical indicators(including hospitalization time,surgical time,bed rest time,and intraoperative fluoroscopy frequency),the levels of interleukin-6(IL-6)and tumor necrosis factor-α(TNF-α)were compared between the two groups,the visual analogue scale(VAS)score and Oswestry disability index(ODI)were used to quantify the pain level of waist and lower limbs and lumbar function,and the excellent and good rate of clinical satisfaction and the incidence of complications were compared.Results The hospitalization time and bed rest time of the experimental group were obviously shorter than those of the traditional group,while the fluoroscopy frequency was less than that of the traditional group,and surgical time was longer than that of the traditional group,the differences were statistically significant(P＜0.05).After treatment,the pain VAS score and ODI of waist and lower limbs,the IL-6,and TNF-α in the two groups were lower than those before treatment,the experimental group was lower than the traditional group,the differences were statistically significant(P＜0.05).The excellent and good rate of the experimental group and the traditional group were 88.10％and 83.33％,respectively,with no statistically significant difference(P＞0.05).There was no statistically significant difference in the total incidence of complications between the two groups(P＞0.05).Conclusion PEID surgery can effectively alleviate nerve compression,alleviate pain of waist and lower limbs,promote the recovering of lumbar function,and facilitate postoperative recovery in LDH patients.

Objective:To explore the effect and possible mechanism of Semen euryales mixture(QSHJ)on renal injury in lu-pus nephritis.Methods:The 14-week-old C57BL/6 mice were the control group of 8.The 14-week-old MRL/lpr mice were randomly di-vided into model group,QSHJ low,medium and high doses groups(7.48,14.95,29.90 g/kg),and prednisone group(5 mg/kg)of 8 mice each.The control group and the model group were given the same volume of normal saline by gavage once a day for 4 weeks.Urine was collected to detect urinary protein content.HE and PASM staining were used to observe renal tissue injury.The serum levels of Anti-dsDNA,IL-6 and TNF-α were detected by ELISA.The protein expressions of phosphatidylinositol 3-kinase(PI3K),phosphor-ylated PI3K(p-PI3K),protein kinase B(AKT),phosphorylated AKT(p-AKT),nuclear factor kappa B p65(NF-κB p65)and phos-phorylated NF-κB p65(p-NF-κB p65)were detected by Western blot.The protein expressions of PI3K,p-PI3K,AKT and p-AKT were detected by immunohistochemistry.The positive expression of NF-κB p65 was observed by immunofluorescence.Results:Com-pared with the control group,the urinary protein content in the model group increased significantly(P<0.05),the renal tissue was in-filtrated with inflammatory cells,and the tissue structure was destroyed obviously,the contents of Anti-dsDNA,IL-6 and TNF-α in se-rum were significantly increased(P<0.05),the expressions of p-PI3K/PI3K,p-AKT/AKT and p-NF-κB p65/NF-κB p65 were signifi-cantly increased(P<0.05),the protein expressions of p-PI3K and p-AKT were increased significantly(P<0.05),the positive expres-sion of NF-κB p65 was increased significantly.Compared with the model group,the urinary protein content of QSHJ low,medium and high doses groups and prednisone group decreased significantly(P<0.05),the infiltration of inflammatory cells in renal tissue was re-lieved,and the damage of tissue structure was alleviated.the contents of Anti-dsDNA,IL-6 and TNF-α in serum were significantly de-creased(P<0.05),the expressions of p-PI3K/PI3K,p-AKT/AKT and p-NF-κB p65/NF-κB p65 were significantly decreased(P<0.05),the protein expressions of p-PI3K and p-AKT were significantly decreased(P<0.05),the positive expression of NF-κB p65 flu-orescence was decreased.Conclusion:QSHJ can improve the pathological manifestations of renal tissue in MRL/lpr mice and alleviate the disease process.The mechanism may be related to the inhibition of PI3K-AKT/NF-κB signaling pathway in renal tissue and the re-duction of inflammatory response by QSHJ.

Blood cell morphology examination is the foundation and important means of diagnosing blood diseases. Artificial intelligence (AI) assisted blood cell morphology examination compensates for the shortcomings of artificial microscopy in the early detection and diagnosis of blood diseases,improves diagnostic efficiency,accuracy,and sensitivity,greatly reduces labor and time costs,significantly improves medical quality,and promotes personalized health care. Traditional manual microscopy is still the standard method in clinical practice in China. In order to encourage the improvement and development of intelligence-assisted blood cell morphology examination,this article discusses the current situation and characteristics of intelligence-assisted blood cell morphology examination. Considering the standardization,database,and ethical issues of automated blood cell morphology analysis,some challenges and limitations are summarized and analyzed,which can support the diagnosis of blood diseases and assist researchers and clinical doctors in the future.

Objective:To explore the effect and possible mechanism of Semen euryales mixture(QSHJ)on renal injury in lu-pus nephritis.Methods:The 14-week-old C57BL/6 mice were the control group of 8.The 14-week-old MRL/lpr mice were randomly di-vided into model group,QSHJ low,medium and high doses groups(7.48,14.95,29.90 g/kg),and prednisone group(5 mg/kg)of 8 mice each.The control group and the model group were given the same volume of normal saline by gavage once a day for 4 weeks.Urine was collected to detect urinary protein content.HE and PASM staining were used to observe renal tissue injury.The serum levels of Anti-dsDNA,IL-6 and TNF-α were detected by ELISA.The protein expressions of phosphatidylinositol 3-kinase(PI3K),phosphor-ylated PI3K(p-PI3K),protein kinase B(AKT),phosphorylated AKT(p-AKT),nuclear factor kappa B p65(NF-κB p65)and phos-phorylated NF-κB p65(p-NF-κB p65)were detected by Western blot.The protein expressions of PI3K,p-PI3K,AKT and p-AKT were detected by immunohistochemistry.The positive expression of NF-κB p65 was observed by immunofluorescence.Results:Com-pared with the control group,the urinary protein content in the model group increased significantly(P<0.05),the renal tissue was in-filtrated with inflammatory cells,and the tissue structure was destroyed obviously,the contents of Anti-dsDNA,IL-6 and TNF-α in se-rum were significantly increased(P<0.05),the expressions of p-PI3K/PI3K,p-AKT/AKT and p-NF-κB p65/NF-κB p65 were signifi-cantly increased(P<0.05),the protein expressions of p-PI3K and p-AKT were increased significantly(P<0.05),the positive expres-sion of NF-κB p65 was increased significantly.Compared with the model group,the urinary protein content of QSHJ low,medium and high doses groups and prednisone group decreased significantly(P<0.05),the infiltration of inflammatory cells in renal tissue was re-lieved,and the damage of tissue structure was alleviated.the contents of Anti-dsDNA,IL-6 and TNF-α in serum were significantly de-creased(P<0.05),the expressions of p-PI3K/PI3K,p-AKT/AKT and p-NF-κB p65/NF-κB p65 were significantly decreased(P<0.05),the protein expressions of p-PI3K and p-AKT were significantly decreased(P<0.05),the positive expression of NF-κB p65 flu-orescence was decreased.Conclusion:QSHJ can improve the pathological manifestations of renal tissue in MRL/lpr mice and alleviate the disease process.The mechanism may be related to the inhibition of PI3K-AKT/NF-κB signaling pathway in renal tissue and the re-duction of inflammatory response by QSHJ.

The paper reports a 32-year-old female acute myeloid leukemia patient who developed graft-versus-host disease after paternal hematopoietic stem cell transplantation, which subsequently led to renal thrombotic microangiopathy. She subsequently required a kidney transplant from the same donor 5 years later due to renal failure. Considering that both the bone marrow and kidney were from the same donor and the recovery of renal function was favorable, immunosuppressive therapy was discontinued after a short course of anti-rejection treatment, with maintained stable kidney function. This case suggests that under the condition of high chimerism, allogeneic hematopoietic stem cell transplantation and kidney transplantation from the same donor can achieve immune tolerance, potentially improving solid organ transplantation success rate. The findings provide a novel therapeutic approach for solid organ transplantation following allogeneic hematopoietic stem cell transplantation.

This paper presents a rare case of renal amyloidosis complicated with primary minimal change disease. The patient initially presented with edema and proteinuria, accompanied by IgG-λ monoclonal immunoglobulinemia, leading to a diagnosis of primary systemic immunoglobulin light chain amyloidosis with renal involvement. Following treatment, the patient achieved both hematologic and renal remission. However, a renal relapse occurred two years later, presenting as nephrotic syndrome without hematologic disease recurrence. A repeat renal biopsy revealed no obvious change in amyloid deposition, but demonstrated markedly enlarged effacement of podocyte foot processes. Based on these findings, a secondary diagnosis of primary minimal change disease was established. The patient exhibited a rapid response to immunosuppressive therapy, achieving sustained long-term remission. This case underscores the importance of remaining vigilant to etiological changes in the treatment of renal diseases and highlights the role of repeated renal biopsy in refining the diagnosis and guiding treatment.

Blood cell morphology examination is the foundation and important means of diagnosing blood diseases. Artificial intelligence (AI) assisted blood cell morphology examination compensates for the shortcomings of artificial microscopy in the early detection and diagnosis of blood diseases,improves diagnostic efficiency,accuracy,and sensitivity,greatly reduces labor and time costs,significantly improves medical quality,and promotes personalized health care. Traditional manual microscopy is still the standard method in clinical practice in China. In order to encourage the improvement and development of intelligence-assisted blood cell morphology examination,this article discusses the current situation and characteristics of intelligence-assisted blood cell morphology examination. Considering the standardization,database,and ethical issues of automated blood cell morphology analysis,some challenges and limitations are summarized and analyzed,which can support the diagnosis of blood diseases and assist researchers and clinical doctors in the future.