1.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
2.Glial fibrillary acidic protein astrocytopathy presenting as progressive encephalomyelitis with rigidity and myoclonus: 1 case report
Sheng ZHUANG ; Hanying GU ; Jinru ZHANG ; Huihui LIU ; Weidong HU
Chinese Journal of Neurology 2025;58(8):873-876
Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy (GFAP-A) is an immune-mediated inflammatory disease of the central nervous system. However, GFAP-A characterized by progressive encephalomyelitis with rigidity and myoclonus as its predominant clinical phenotype is rare. This article described a case, supplemented with clinical video, of a young male patient who developed fever and neck pain at disease onset. Over the course of the illness, the patient experienced progressively worsening painful muscle spasms, muscle rigidity, and stimulus-sensitive myoclonus, accompanied by autonomic dysfunction. Cerebrospinal fluid analysis revealed positive GFAP-IgG antibodies. The patient showed significant improvement with treatment of high-dose corticosteroids, intravenous immunoglobulin, and mycophenolate mofetil.
3.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies.
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
OBJECTIVE:
To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.
METHODS:
A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).
RESULTS:
Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results (Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal.
CONCLUSION
The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
Humans
;
Female
;
Pregnancy
;
Aneuploidy
;
Prenatal Diagnosis/methods*
;
Karyotyping
;
Retrospective Studies
;
Polymerase Chain Reaction/methods*
;
Chromosome Disorders/genetics*
;
Adult
;
Trisomy 13 Syndrome/diagnosis*
;
Trisomy 18 Syndrome/genetics*
;
Down Syndrome/genetics*
4.A Preliminary Study on the Changes of Neurotransmitters in Neural Pathways Related to Tinnitus Induced by Salicylate in Rats
Bin YI ; Qingping MA ; Xueling WANG ; Huihui LIU ; Jiayi GU ; Tingting DU ; Wenxiao WANG ; Runjie SHI ; Zhiwu HUANG
Journal of Audiology and Speech Pathology 2025;33(1):66-72
Objective To study the dynamic changes in the secretion of neurotransmitters glutamic acid(Glu)and γ-aminobutyric acid(GABA)in the central auditory brain area,in order to explore the effects of sodium salicy-late on different locations of the auditory pathway.Methods A total of 126 SD rats were injected intraperitoneally with salicylate,and were divided into 10 groups including injection groups for 1,2,4,8,and 24 hours,chronic in-jection groups for 3,7,and 14 days,and chronic recovery groups for 21 and 28 days with 6 rats in each group,as well as their corresponding blank control groups.Rats in each group were anesthetized and materials were collected for further use.High-performance liquid chromatography(HPLC)was performed to detect and compare the dynam-ic changes in the levels of Glu and GABA in the auditory cortex,inferior colliculus,cochlear nucleus,and hippocam-pus of the auditory center of rats in each group at different time points.Results Compared with the control group,within 24 hours of acute injection of salicylate,the Glu content in the auditory cortex reached the peak in 1 hour,and the hippocampus reached the peak at the 4th hour after injection,and then decreased slowly.The GABA con-tent in the four brain regions showed a slow upward trend in the chronic injection period,reached the peak on the 7th day,decreased and approached normal level on the 14th day,and basically returned to the normal level in the re-covery period.Conclusion These findings indicate that salicylate has a certain short-term excitatory and stimulating effect on the central auditory system.Under the mechanism of central plasticity,after long-term injection of salicy-late,the release of neurotransmitters reaches a new excitation/inhibition balance in the central area.Glu and GABA may each play a different role that may ultimately lead to the development of tinnitus.
5.Research on factors influencing the emotional competence of nursing interns in tertiary grade a hospi-tals in Weifang city
Fengxiang DU ; Chunxiao GU ; Huihui TI
Modern Hospital 2025;25(9):1462-1464
Objective To investigate the current status of emotional competence among nursing interns in tertiary grade A hospitals in Weifang City and explore influencing factors,providing a reference for implementing interventions to enhance emo-tional competence.Methods A convenience sampling method was used to select 522 nursing interns from three tertiary grade A hospitals in Weifang City from February 2024 to February 2025 as the study subjects.Results The total score of the emotional domain ability evaluation scale for nursing interns was(106.93±17.94)points,the score of professional belief perception ability was(30.16±5.28)points,the score of professional connotation comprehension ability was(25.38±5.29)points,the score of professional value evaluation ability was(30.74±4.96)points,and the score of professional value internalization ability was(20.66±4.16)points.Whether the nursing interns are competent in nursing work,the attitude of clinical nursing staff,patients and their families towards the nursing interns,and whether they have received emotional domain education training are the main influencing factors of the emotional domain ability of nursing interns(P<0.05).Conclusion Nursing interns at Weifang's ter-tiary Grade A hospitals demonstrate sound development in emotional competence.To further enhance this capacity,a coordinated approach encompassing education,clinical training environment,evaluation systems,emotional support,and policy guidance should be implemented.This will establish a diversified and systematic emotional competence cultivation framework to achieve sustained imrovement in nursing quality.
6.Research on factors influencing the emotional competence of nursing interns in tertiary grade a hospi-tals in Weifang city
Fengxiang DU ; Chunxiao GU ; Huihui TI
Modern Hospital 2025;25(9):1462-1464
Objective To investigate the current status of emotional competence among nursing interns in tertiary grade A hospitals in Weifang City and explore influencing factors,providing a reference for implementing interventions to enhance emo-tional competence.Methods A convenience sampling method was used to select 522 nursing interns from three tertiary grade A hospitals in Weifang City from February 2024 to February 2025 as the study subjects.Results The total score of the emotional domain ability evaluation scale for nursing interns was(106.93±17.94)points,the score of professional belief perception ability was(30.16±5.28)points,the score of professional connotation comprehension ability was(25.38±5.29)points,the score of professional value evaluation ability was(30.74±4.96)points,and the score of professional value internalization ability was(20.66±4.16)points.Whether the nursing interns are competent in nursing work,the attitude of clinical nursing staff,patients and their families towards the nursing interns,and whether they have received emotional domain education training are the main influencing factors of the emotional domain ability of nursing interns(P<0.05).Conclusion Nursing interns at Weifang's ter-tiary Grade A hospitals demonstrate sound development in emotional competence.To further enhance this capacity,a coordinated approach encompassing education,clinical training environment,evaluation systems,emotional support,and policy guidance should be implemented.This will establish a diversified and systematic emotional competence cultivation framework to achieve sustained imrovement in nursing quality.
7.A Preliminary Study on the Changes of Neurotransmitters in Neural Pathways Related to Tinnitus Induced by Salicylate in Rats
Bin YI ; Qingping MA ; Xueling WANG ; Huihui LIU ; Jiayi GU ; Tingting DU ; Wenxiao WANG ; Runjie SHI ; Zhiwu HUANG
Journal of Audiology and Speech Pathology 2025;33(1):66-72
Objective To study the dynamic changes in the secretion of neurotransmitters glutamic acid(Glu)and γ-aminobutyric acid(GABA)in the central auditory brain area,in order to explore the effects of sodium salicy-late on different locations of the auditory pathway.Methods A total of 126 SD rats were injected intraperitoneally with salicylate,and were divided into 10 groups including injection groups for 1,2,4,8,and 24 hours,chronic in-jection groups for 3,7,and 14 days,and chronic recovery groups for 21 and 28 days with 6 rats in each group,as well as their corresponding blank control groups.Rats in each group were anesthetized and materials were collected for further use.High-performance liquid chromatography(HPLC)was performed to detect and compare the dynam-ic changes in the levels of Glu and GABA in the auditory cortex,inferior colliculus,cochlear nucleus,and hippocam-pus of the auditory center of rats in each group at different time points.Results Compared with the control group,within 24 hours of acute injection of salicylate,the Glu content in the auditory cortex reached the peak in 1 hour,and the hippocampus reached the peak at the 4th hour after injection,and then decreased slowly.The GABA con-tent in the four brain regions showed a slow upward trend in the chronic injection period,reached the peak on the 7th day,decreased and approached normal level on the 14th day,and basically returned to the normal level in the re-covery period.Conclusion These findings indicate that salicylate has a certain short-term excitatory and stimulating effect on the central auditory system.Under the mechanism of central plasticity,after long-term injection of salicy-late,the release of neurotransmitters reaches a new excitation/inhibition balance in the central area.Glu and GABA may each play a different role that may ultimately lead to the development of tinnitus.
8.Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies
Xuejiao CHEN ; Yanfeng YANG ; Yuanyuan YING ; Feiyan PAN ; Zhiqiang GU ; Weimeng JIAO ; Zehang HE ; Huihui XU
Chinese Journal of Medical Genetics 2025;42(5):592-596
Objective:To assess the clinical value of digital PCR (dPCR) for the prenatal diagnosis of common fetal aneuploidies.Methods:A dPCR-based assay was developed for detecting trisomies 21, 18, and 13. A retrospective analysis was carried out on 173 amniotic fluid samples collected by the Prenatal Diagnosis Center of Taizhou Hospital between January 2017 and December 2023. By using chromosomal karyotyping as the gold standard, the diagnostic performance of the multiplex dPCR system was evaluated in a double-blind manner. This study has been approved by the Ethics Committee of Taizhou Hospital (Ethics No. K20250339).Results:Chromosomal karyotyping has identified 59 cases of trisomy 21, 5 cases of trisomy 18, 2 cases of trisomy 13, 6 cases with chromosomal structural abnormalities or mosaicisms, and 101 cases with a normal karyotype. The dPCR results ( Z-score cutoff = 4.0, CI = 99.997%) showed full concordance with karyotyping (sensitivity = 100%, specificity = 100%, Kappa = 1). Among the 6 structurally abnormal or mosaicism samples, dPCR has accurately detected 4 cases, but mis-classified 2 cases of trisomy 21 with very low-level mosaicisms (3.3%, 6.9%, respectively) as normal. Conclusion:The established multiplex dPCR system demonstrated high diagnostic accuracy for common chromosomal aneuploidies, with results available within 24 hours. It can serve as an efficient supplementary tool to conventional chromosomal karyotyping, providing reliable support for time-sensitive clinical decision-making in prenatal diagnosis.
9.Glial fibrillary acidic protein astrocytopathy presenting as progressive encephalomyelitis with rigidity and myoclonus: 1 case report
Sheng ZHUANG ; Hanying GU ; Jinru ZHANG ; Huihui LIU ; Weidong HU
Chinese Journal of Neurology 2025;58(8):873-876
Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy (GFAP-A) is an immune-mediated inflammatory disease of the central nervous system. However, GFAP-A characterized by progressive encephalomyelitis with rigidity and myoclonus as its predominant clinical phenotype is rare. This article described a case, supplemented with clinical video, of a young male patient who developed fever and neck pain at disease onset. Over the course of the illness, the patient experienced progressively worsening painful muscle spasms, muscle rigidity, and stimulus-sensitive myoclonus, accompanied by autonomic dysfunction. Cerebrospinal fluid analysis revealed positive GFAP-IgG antibodies. The patient showed significant improvement with treatment of high-dose corticosteroids, intravenous immunoglobulin, and mycophenolate mofetil.
10.Chest CT quantitative parameters in patients with acute exacerbation of chronic obstructive pulmonary disease:Correlations with blood eosinophil level
Lu YANG ; Yadan SHENG ; Kai YANG ; Liyu HE ; Huihui GU ; Guoqing SUN ; Weiting CHEN ; Bingjie ZHU ; Yanrong CHEN ; Chenwang JIN
Chinese Journal of Medical Imaging Technology 2024;40(8):1189-1193
Objective To observe the correlations of chest CT quantitative parameters in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD)with blood eosinophil(EOS)level.Methods Chest CT data of 162 AECOPD patients with elevated eosinophils were retrospectively analyzed.The patients were divided into low EOS group(n=105)and high EOS group(n=57)according to the absolute counting of blood EOS.The quantitative CT parameters,including the number of whole lung bronchi and the volume of blood vessels,low-attenuation area percentage(LAA%)of whole lung,of left/right lung and each lobe of lung,as well as the luminal diameter(LD),wall thickness(WT),wall area(WA)and WA percentage of total bronchial cross-section(WA%)of grade 3 to 8 bronchi were compared between groups.Spearman correlations were performed to analyze the correlations of quantitative CT parameters with blood EOS level.Results LAA%of the whole lung,of the left/right lung and each lobe of lung,as well as of the upper lobe of right lung LDgrade4,middle lobe of right lung WTgrade5,upper lobe of right lung WAgrade4,middle lobe of right lung WAgrade5 and lower lobe of left lung WAgrade3 in low EOS group were all higher than those in high EOS group(all P<0.05).Except for the upper lobe of right lung LDgrade4,the above quantitative CT indexes being significant different between groups were all weakly and negatively correlated with blood EOS level(r=-0.335 to-0.164,all P<0.05).Conclusion Chest CT quantitative parameters of AECOPD patients were correlated with blood EOS level,among which LAA%,a part of WT and WA were all weakly negatively correlated with blood EOS level.

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