1.Effectiveness of generative large language model MedGo in nursing decision-making for elderly patients with multimorbidity
Qiaoyun YAN ; Min LI ; Yawen YAN ; Yaqing NI ; Yun GU ; Jiawen QIN ; Haiping YU ; Haitao ZHANG ; Liming ZHAO
Chinese Journal of Clinical Medicine 2026;33(1):16-23
Objective To explore the effectiveness of the generative large language model MedGo in nursing decision-making for elderly patients with multimorbidity. Methods A quasi-randomized controlled trial study was conducted involving 6 junior nurses, 6 senior nurses and the MedGo model from January 1, 2025 to March 31, 2025 at the Emergency Internal Medicine Ward of Shanghai East Hospital Affiliated to Tongji University. Clinical data of 120 elderly patients with multimorbidity were analyzed to compare the performance of the three groups in four tasks (nursing diagnosis assessment, nursing intervention formulation, complication identification, and complication prevention) from three evaluation dimensions: decision-making time consumption, decision accuracy, and decision-making quality. Results In terms of decision-making time, the senior nurse group completed all four tasks faster than the junior nurse group (P<0.01), and the MedGo group completed all four tasks faster than the junior nurse group (P<0.001) and the senior nurse group (P<0.001). In terms of decision-making accuracy, senior nurse group scored higher than junior nurse group in all four tasks (P<0.001), while the MedGo group outperformed the senior nurse group only in complication identification (P<0.001). In terms of decision-making quality, the MedGo group scored higher than junior nurse group (P<0.001) and senior nurse group (P<0.001) in all four tasks. Conclusions The MedGo model demonstrates advantages of high efficiency, accuracy, and quality in nursing decision-making for elderly patients with multimorbidity; senior nurses outperform junior nurses in decision-making, providing diverse references for clinical nursing decision-making.
2.Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province
Xinyun ZHU ; Dehua ZHAO ; Yizhuo XU ; Jie ZHANG ; Xiaole LI ; Suna LIU ; Min NI ; Yihui REN ; Chong ZHANG ; Yaqing GUO ; Junqi LI ; Shubo LYU ; Chenlu JIA ; Ying SHI
Chinese Journal of Medical Genetics 2025;42(6):641-647
Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
3.Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province.
Xinyun ZHU ; Dehua ZHAO ; Yizhuo XU ; Jie ZHANG ; Xiaole LI ; Suna LIU ; Min NI ; Yihui REN ; Chong ZHANG ; Yaqing GUO ; Junqi LI ; Shubo LYU ; Chenlu JIA ; Ying SHI
Chinese Journal of Medical Genetics 2025;42(6):641-647
OBJECTIVE:
To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.
METHODS:
A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67).
RESULTS:
Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms.
CONCLUSION
The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans
;
Amino Acid Metabolism, Inborn Errors/epidemiology*
;
Glutaryl-CoA Dehydrogenase/chemistry*
;
Infant, Newborn
;
Female
;
Neonatal Screening/methods*
;
Male
;
Brain Diseases, Metabolic/epidemiology*
;
China/epidemiology*
;
Retrospective Studies
;
Mutation
;
Genetic Variation
;
Glutarates
4.Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province
Xinyun ZHU ; Dehua ZHAO ; Yizhuo XU ; Jie ZHANG ; Xiaole LI ; Suna LIU ; Min NI ; Yihui REN ; Chong ZHANG ; Yaqing GUO ; Junqi LI ; Shubo LYU ; Chenlu JIA ; Ying SHI
Chinese Journal of Medical Genetics 2025;42(6):641-647
Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
5.Effects of the club mode of health education on social support of breast cancer patients and their spouses
Chunyan CHAI ; Mingxia CHEN ; Yaqing LU ; Weiyan NI
Chinese Journal of Modern Nursing 2017;23(18):2388-2392
Objective To investigate the effects of club mode of health education on social support of breast cancer patients and their spouses.Methods A total of 100 breast cancer patients who underwent modified radical mastectomy and their spouses in Suzhou Municipal Hospital from May 2012 to March 2013 were randomly divided into the intervention group and the control group with 50 cases respectively. Patients and spouses in the intervention group were involved in the club, while in the control group patients and spouses received routine nursing care. Perceived social support scale (PSSS) and social support ratings scale (SSRS) were used in the questionnaires for patients before the intervention and at the 1st month, 3rd month, 6th month after the intervention.Results In the intervention group, the score of the support on the patients out of family was (29.80±5.77) at the 1st month after the intervention; the total score of perceived social support was (57.22±5.26) at the 3rd month after the intervention; the score of support from family was (26.59±2.51) at the 6th month after the intervention. All of those scores were significant higher than those in the control group (F=6.391, 0.304, 7.435;P<0.05). At the 3rd month after the intervention, the score of the social support on the spouses were (45.02±6.40) in the intervention group and (39.17±7.77) in the control group. The difference between the two groups was statistically significant (F=1.250,P<0.05).Conclusions The club mode of health education can effectively improve the social support status for breast cancer patients and their spouses.
6.Clinical significance of CK19 mRNA detection in peripheral blood of cervical cancer patients by fluorescent quantitative RT-PCR
Huafeng SHOU ; Juan NI ; Yaqing CHEN ; Haiyan SUN
Journal of Chinese Physician 2011;13(9):1184-1187
Objective To detect the expression of Cytokeratin 19 (CK19) mRNA in the peripheral blood of cervical carcinoma patients and evaluate its clinical significance.Methods The expression of CK19 mRNA was evaluated by fluorescent quantitative reverse transcription polymerase chain reaction ( FQRT-PCR ) in the peripheral blood of 138 patients with cervical carcinoma and 36 patients with benign gynecological tumors.In 138 patients,possible correlations between clinical pathological factors were analyzed.Results The positive expression rates of CK19 mRNA was 69.6% in 138 cervical carcinomas in comparison with 13.9% in benign gynecological tumors,and 57.9% in patients with FIGO Stage Ⅰ A to Ⅱ A cervical carcinoma in comparison with 80.6% in patients with FIGO Stage Ⅱb to Ⅳ cervical carcinoma.The expression of CK19 mRNA in patients with FIGO Stage Ⅰ A to Ⅱ A cervical carcinoma were significantly correlated with stage,differentiation and lymph vascular space involvement,but was not associated with prognostic factors including age,bully tumor size,pathological types,deep stromal invasion and lymph node metastasis.In multivariate survival analysis,lymph vascular space involvement was an independent risk factor of CK19mRNA expression in patients with cervical carcinoma.Conclusions Fluorescent quantitative RTPCR can be used to detect the expression of CK19 in the peripheral blood of cervical carcinoma patients,and it is a sensitive and specific technique.CK19 mRNA in peripheral blood may be a potential biomarker for detecting micrometastasis in cervical carcinoma.The results suggest a possible use of this approach for evaluating prognosis.
7.TNF-alpha up-regulates matrix metalloproteinase-9 expression and activity in alveolar macrophages from patients with chronic obstructive pulmonary disease.
Yaqing, LI ; Zhenxiang, ZHANG ; Yongjian, XU ; Shengdao, XIONG ; Wang, NI ; Shixin, CHEN
Journal of Huazhong University of Science and Technology (Medical Sciences) 2006;26(6):647-50
To study the effects of tumor necrosis factor (TNF)-alpha on matrix metalloproteinase (MMP)-9 expression and activity in alveolar macrophages (AM) and to investigate the role of NF-kappaB in the induction, AM were collected from bronchoalveolar lavage fluid (BALF) of healthy subjects and patients with chronic obstructive pulmonary disease (COPD). MMP-9 expression and activity were detected by semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR), Western blotting and zymography. NF-kappaB activity was detected by electrophoretic mobility shift assay (EMSA). MMP-9 expression and activity induced by TNF-alpha in AM from healthy subjects or patients with COPD were significantly increased in a dose-dependent manner (P<0.05). NF-kappaB activity induced by TNF-alpha was significantly increased in AM from patients with COPD, and pyrrolidine dithiocarbamate (PDTC) and N-acetyl-L-cysteine (NAC) significantly inhibited the activation of NF-kappaB induced by TNF-alpha (P<0.05). The presents study suggested that the expression and activity of MMP-9 from AM can be induced by TNF-alpha, and TNF-alpha/NF-kappaB signal pathway may play an important role in the induction.
8.TNF-α Up-regulates Matrix Metalloproteinase-9 Expression and Activity in Alveolar Macrophages from Patients with Chronic Obstructive Pulmonary Disease
Yaqing LI ; Zhenxiang ZHANG ; Yongjian XU ; Shengdao XIONG ; Wang NI ; Shixin CHEN
Journal of Huazhong University of Science and Technology (Medical Sciences) 2006;26(6):647-650
To study the effects of tumor necrosis factor (TNF)-α on matrix metalloproteinase (MMP)-9 expression and activity in alveolar macrophages (AM) and to investigate the role of NF-κB in the induction, AM were collected from bronchoalveolar lavage fluid (BALF) of healthy subjects and patients with chronic obstructive pulmonary disease (COPD). MMP-9 expression and activity were detected by semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR), Western blotting and zymography. NF-κB activity was detected by electrophoretic mobility shift assay (EMSA). MMP-9 expression and activity induced by TNF-α in AM from healthy subjects or patients with COPD were significantly increased in a dose-dependent manner (P<0.05). NF-κB activity induced by TNF-α was significantly increased in AM from patients with COPD, and pyrrolidine dithiocarbamate (PDTC) and N-acetyl-L-cysteine (NAC) significantly inhibited the activation of NF-κB induced by TNF-α (P<0.05). The presents study suggested that the expression and activity of MMP-9 from AM can be induced by TNF-α, and TNF-α/NF-κB signal pathway may play an important role in the induction.
9.Effects of Sodium Nitroprusside on apoptosis of airway smooth muscle cells of asthmatic rats in vitro
Tao YE ; Yongjian XU ; Zhenxiang ZHANG ; Wang NI ; Shixin CHEN ; Baoan GAO ; Yaqing LI
Journal of Chinese Physician 2001;0(03):-
Objective To explore the effects of Sodium Nitroprusside(SNP) on apoptosis of airway smooth muscle cells(ASMCs) of asthmatic rats in vitro.Methods Ten Wister rats were selected to make the models of asthma.The effect of SNP on the survival rate of asthmatic rat airway smooth muscle cells was detected by MTT method.The apoptosis of cells was detected by TUNEL method and flow cytometry.Results Comparing with asthma group,the survival rate of ASMCs was decreased significantly in SNP plus asthma group by MTT method(P
10.Gelatinases expression and their activity in rat alveolar macrophages induced by cigarette smoke medium
Yaqing LI ; Zhenxiang ZHANG ; Yongjian XU ; Shixin CHEN ; Wang NI ; Zhao YANG ; Dan MA
Chinese Journal of Pathophysiology 1989;0(05):-
AIM: To study the effect of cigarette smoke medium(CSM) on the gene expression and activity of gelatinases from alveolar macrophages(AMs) in the rat,and then to explore their role in the pathogenesis of chronic obstructive pulmonary disease(COPD).METHODS: AMs were obtained from BALF of the rats that had smoked for 12 weeks.CSM was produced following the method of Wirtz and colleagues,and the cultured AMs were respectively stimulated for 24 h by 0%,1%,3%,5%,10%, 15% CSM.The mRNA levels of MMP-9 and MMP-2 were detected by semi-quantitative RT-PCR,and the enzyme activity was measured by Zymography.RESULTS: When the concentration of CSM was below 5%,the expression and activity of MMP-9 and MMP-2 signficantly increased with the concentration of CSM in a dose-depended manner(P

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