1.Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome.
Meijuan LI ; Xinyou YU ; Lanhua YANG ; Xiaoyan WANG ; Bo WEI
Chinese Journal of Medical Genetics 2025;42(1):64-68
OBJECTIVE:
To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.
METHODS:
From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.2BP1-BP2 microdeletion syndrome at the Prenatal Diagnosis Center of General Hospital of Ningxia Medical University were selected as the study subjects. Results of genetic testing and ultrasound examination, outcome of pregnancy, and postnatal follow-up were retrospectively analyzed. This study has been approved by the Ethics Committee of General Hospital of Ningxia Medical University ([2020]0520B).
RESULTS:
None of the 20 fetuses was found to have chromosomal abnormality, whilst all were found to harbor a 15q11.2 BP1-BP2 microdeletion by low-depth whole genome sequencing (CNV-seq). The range of deletions was determined as 0.26 ~ 0.87 Mb, and all were rated as pathogenic CNVs. Three fetuses had abnormal ultrasound findings, including 1 with widened renal pelvis, 1 with agenesis of corpus callosum, and 1 with nuchal fold thickening. Parental verification in 10 couples verified that two fetal deletions were de novo, whilst the remaining eight were inherited from a phenotypically normal parent. Following genetic counseling, three couples had opted to terminate the pregnancy, whilst the remaining 17 had continued with the pregnancy until delivery. The 17 liveborns were followed up for 2 months to 5 years, with no obvious abnormality in growth and development noted.
CONCLUSION
CNV-seq plays an important role in the prenatal diagnosis of 15q11.2 BP1-BP2 microdeletions. Such deletions may not always lead to disease phenotypes. Individualized consultation and long-term follow-up, in combination with intrauterine ultrasound and parental verification are necessary.
Humans
;
Female
;
Pregnancy
;
Chromosomes, Human, Pair 15/genetics*
;
Genetic Counseling
;
Prenatal Diagnosis
;
Chromosome Deletion
;
Adult
;
Fetus/abnormalities*
;
Retrospective Studies
;
Pregnancy Outcome
;
Ultrasonography, Prenatal
;
Genetic Testing
;
DiGeorge Syndrome/diagnosis*
;
Male
2.Distribution and drug resistance of pathogens causing surgical site infections in 53 hospitals of Suzhou City from 2020 to 2023:a surveillance report
Yu ZHU ; Meijuan JIN ; Limei CAI ; Junji ZHANG ; Wei DING ; Shukai ZHU ; Xiaochao SONG
Chinese Journal of Nosocomiology 2025;35(22):3452-3456
OBJECTIVE To retrospectively investigate the incidence of surgical site infection(SSI),distribution and drug resistance of pathogens in 53 hospitals of Suzhou area from 2020 to 2023 so as to provide strategies for pre-vention and control of the hospital-associated infections in Suzhou area.METHODS The data regarding the SSI,distribution and drug resistance of pathogens were statistically analyzed through Suzhou City Regional Hospital In-fection Surveillance Platform.RESULTS The incidence of SSI was 0.24%among the 53 hospitals from 2020 to 2023.Staphylococcus aureus,Enterococcus faecalis,Staphylococcus epidermidis,Enterococcus faecium and Staphylococcus haemolyticus ranked the top 5 species of gram-positive bacteria;Escherichia coli,Klebsiella pneumoniae,Pseudomonas aeruginosa,Enterobacter cloacae and Acinetobacter baumannii ranked the top 5 spe-cies of gram-negative bacteria.There were significant differences in the distributions of S.aureus,K.pneumoniae and A.baumannii in the superficial,deep and organ cavities(P<0.05).The isolation rate of carbapenem-resistant Acinetobacter baumannii(CRAB)was 69.23%,and the isolation rate of methicillin-resistant Staphylococcus au-reus(MRSA)was 42.14%.The drug resistance rate of the S.aureus strains to oxacillin reached up to 40.24%;the drug resistance rates of the A.baumannii to imipenem and meropenem reached up 63.00%and 65.80%,re-spectively.The drug resistance rates of the K.pneumoniae strains to imipenem and meropenem approximated to 30%,and the drug resistance rate to tigecycline was 19.84%.CONCLUSIONS The total incidence of SSI shows a downward trend in the 53 hospitals of Suzhou area.The S.aureus is the major species of pathogens,and some of the pathogens show high drug resistance rates.
3.Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome
Meijuan LI ; Xinyou YU ; Lanhua YANG ; Xiaoyan WANG ; Bo WEI
Chinese Journal of Medical Genetics 2025;42(1):64-68
Objective:To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.Methods:From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.2BP1-BP2 microdeletion syndrome at the Prenatal Diagnosis Center of General Hospital of Ningxia Medical University were selected as the study subjects. Results of genetic testing and ultrasound examination, outcome of pregnancy, and postnatal follow-up were retrospectively analyzed. This study has been approved by the Ethics Committee of General Hospital of Ningxia Medical University (No. [2020]0520B).Results:None of the 20 fetuses was found to have chromosomal abnormality, whilst all were found to harbor a 15q11.2 BP1-BP2 microdeletion by low-depth whole genome sequencing (CNV-seq). The range of deletions was determined as 0.26 ~ 0.87 Mb, and all were rated as pathogenic CNVs. Three fetuses had abnormal ultrasound findings, including 1 with widened renal pelvis, 1 with agenesis of corpus callosum, and 1 with nuchal fold thickening. Parental verification in 10 couples verified that two fetal deletions were de novo, whilst the remaining eight were inherited from a phenotypically normal parent. Following genetic counseling, three couples had opted to terminate the pregnancy, whilst the remaining 17 had continued with the pregnancy until delivery. The 17 liveborns were followed up for 2 months to 5 years, with no obvious abnormality in growth and development noted. Conclusion:CNV-seq plays an important role in the prenatal diagnosis of 15q11.2 BP1-BP2 microdeletions. Such deletions may not always lead to disease phenotypes. Individualized consultation and long-term follow-up, in combination with intrauterine ultrasound and parental verification are necessary.
4.Qualitative research on the barriers of chronic wound linkage management in medical consortium
Hongling SUN ; Meijuan LAN ; Hui WANG ; Haotian CHEN ; Hangqing YU
Chinese Journal of Nursing 2025;60(18):2246-2251
Objective To explore the barriers of implementing collaborative chronic wound management within medical consortium and provide references for ensuring continuous care for chronic wound patients.Methods Using purposive and snowball sampling methods,14 specialist nurses participating in chronic wound collaborative management across medical consortium in 7 provinces/municipalities(Beijing,Shanghai,Zhejiang,Sichuan,etc.)were selected for semi-structured interviews between December 2023 and January 2024.Data were analyzed via content analysis.Results Totally 4 themes and 8 subthemes were identified,including management and organizational level(the management system needs improvement;the function of medical information mutual recognition has not been fully realized),resource and technology level(there are insufficient nursing resources at the grassroots hospitals;the specialized nursing capabilities of wound nurses at grassroots hospitals need to be enhanced),patient and demand level(patients' trust is insufficient;patients' concepts are rigid),information technology and support level(the informatization construction of grassroots hospitals lags behind;the intelligence of information systems is insufficient).Conclusion Wound specialist nurses encounter various difficulties when participating in the coordinated management of chronic wounds within the medical consortium.The management and organizational system constraints hinder the effectiveness of the nursing coordination;the resource and technology gap affects the implementation of graded wound care in the region;the lack of patient trust and misconceptions intensify the resistance to coordination;the lagging in information technology construction limits the innovative development of nursing coordination.
5.Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome
Meijuan LI ; Xinyou YU ; Lanhua YANG ; Xiaoyan WANG ; Bo WEI
Chinese Journal of Medical Genetics 2025;42(1):64-68
Objective:To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.Methods:From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.2BP1-BP2 microdeletion syndrome at the Prenatal Diagnosis Center of General Hospital of Ningxia Medical University were selected as the study subjects. Results of genetic testing and ultrasound examination, outcome of pregnancy, and postnatal follow-up were retrospectively analyzed. This study has been approved by the Ethics Committee of General Hospital of Ningxia Medical University (No. [2020]0520B).Results:None of the 20 fetuses was found to have chromosomal abnormality, whilst all were found to harbor a 15q11.2 BP1-BP2 microdeletion by low-depth whole genome sequencing (CNV-seq). The range of deletions was determined as 0.26 ~ 0.87 Mb, and all were rated as pathogenic CNVs. Three fetuses had abnormal ultrasound findings, including 1 with widened renal pelvis, 1 with agenesis of corpus callosum, and 1 with nuchal fold thickening. Parental verification in 10 couples verified that two fetal deletions were de novo, whilst the remaining eight were inherited from a phenotypically normal parent. Following genetic counseling, three couples had opted to terminate the pregnancy, whilst the remaining 17 had continued with the pregnancy until delivery. The 17 liveborns were followed up for 2 months to 5 years, with no obvious abnormality in growth and development noted. Conclusion:CNV-seq plays an important role in the prenatal diagnosis of 15q11.2 BP1-BP2 microdeletions. Such deletions may not always lead to disease phenotypes. Individualized consultation and long-term follow-up, in combination with intrauterine ultrasound and parental verification are necessary.
6.Qualitative research on the barriers of chronic wound linkage management in medical consortium
Hongling SUN ; Meijuan LAN ; Hui WANG ; Haotian CHEN ; Hangqing YU
Chinese Journal of Nursing 2025;60(18):2246-2251
Objective To explore the barriers of implementing collaborative chronic wound management within medical consortium and provide references for ensuring continuous care for chronic wound patients.Methods Using purposive and snowball sampling methods,14 specialist nurses participating in chronic wound collaborative management across medical consortium in 7 provinces/municipalities(Beijing,Shanghai,Zhejiang,Sichuan,etc.)were selected for semi-structured interviews between December 2023 and January 2024.Data were analyzed via content analysis.Results Totally 4 themes and 8 subthemes were identified,including management and organizational level(the management system needs improvement;the function of medical information mutual recognition has not been fully realized),resource and technology level(there are insufficient nursing resources at the grassroots hospitals;the specialized nursing capabilities of wound nurses at grassroots hospitals need to be enhanced),patient and demand level(patients' trust is insufficient;patients' concepts are rigid),information technology and support level(the informatization construction of grassroots hospitals lags behind;the intelligence of information systems is insufficient).Conclusion Wound specialist nurses encounter various difficulties when participating in the coordinated management of chronic wounds within the medical consortium.The management and organizational system constraints hinder the effectiveness of the nursing coordination;the resource and technology gap affects the implementation of graded wound care in the region;the lack of patient trust and misconceptions intensify the resistance to coordination;the lagging in information technology construction limits the innovative development of nursing coordination.
7.Novel araucarene diterpenes from Agathis dammara exert hypoglycemic activity by promoting pancreatic β cell regeneration and glucose uptake.
Zhewei YU ; Yi ZHANG ; Wenhui WANG ; XinYi WU ; Shunzhi LIU ; Yanlin BIN ; Hongsheng LI ; Bangping CAI ; Zheng WANG ; Meijuan FANG ; Rong QI ; Mingyu LI ; Yingkun QIU
Chinese Journal of Natural Medicines (English Ed.) 2025;23(4):492-503
In this study, araucarene diterpenes, characterized by a pimarene skeleton with a variably oxidized side chain at C-13, were investigated. A total of 16 araucarene diterpenoids and their derivatives were isolated from the woods of Agathis dammara, including 11 previously unreported compounds: dammaradione (1), dammarones D-G (2, 5, 14, 15), dammaric acids B-F (8-12), and dammarol (16). The structures of these new compounds were elucidated using high-resolution electrospray ionization mass spectroscopy (HR-ESI-MS) and one-dimensional/two-dimensional (1D/2D) nuclear magnetic resonance (NMR), while their absolute configurations were determined through the electronic circular dichroism (ECD) exciton chirality method and Snatzke's method. The hypoglycemic activity of all isolated compounds was evaluated using a transgenic zebrafish model, and a structure-activity relationship (SAR) analysis was conducted. Araucarone (3) and dammaric acid C (9), serving as representative compounds, demonstrated significant hypoglycemic effects on zebrafish. The primary mechanism involves the promotion of pancreatic β cell regeneration and glucose uptake. Specifically, these compounds enhance the differentiation of pancreatic endocrine precursor cells (PEP cells) into β cells in zebrafish.
Zebrafish
;
Animals
;
Diterpenes/isolation & purification*
;
Insulin-Secreting Cells/cytology*
;
Glucose/metabolism*
;
Hypoglycemic Agents/isolation & purification*
;
Molecular Structure
;
Structure-Activity Relationship
;
Plant Extracts/pharmacology*
;
Regeneration/drug effects*
8.Distribution and drug resistance of pathogens causing surgical site infections in 53 hospitals of Suzhou City from 2020 to 2023:a surveillance report
Yu ZHU ; Meijuan JIN ; Limei CAI ; Junji ZHANG ; Wei DING ; Shukai ZHU ; Xiaochao SONG
Chinese Journal of Nosocomiology 2025;35(22):3452-3456
OBJECTIVE To retrospectively investigate the incidence of surgical site infection(SSI),distribution and drug resistance of pathogens in 53 hospitals of Suzhou area from 2020 to 2023 so as to provide strategies for pre-vention and control of the hospital-associated infections in Suzhou area.METHODS The data regarding the SSI,distribution and drug resistance of pathogens were statistically analyzed through Suzhou City Regional Hospital In-fection Surveillance Platform.RESULTS The incidence of SSI was 0.24%among the 53 hospitals from 2020 to 2023.Staphylococcus aureus,Enterococcus faecalis,Staphylococcus epidermidis,Enterococcus faecium and Staphylococcus haemolyticus ranked the top 5 species of gram-positive bacteria;Escherichia coli,Klebsiella pneumoniae,Pseudomonas aeruginosa,Enterobacter cloacae and Acinetobacter baumannii ranked the top 5 spe-cies of gram-negative bacteria.There were significant differences in the distributions of S.aureus,K.pneumoniae and A.baumannii in the superficial,deep and organ cavities(P<0.05).The isolation rate of carbapenem-resistant Acinetobacter baumannii(CRAB)was 69.23%,and the isolation rate of methicillin-resistant Staphylococcus au-reus(MRSA)was 42.14%.The drug resistance rate of the S.aureus strains to oxacillin reached up to 40.24%;the drug resistance rates of the A.baumannii to imipenem and meropenem reached up 63.00%and 65.80%,re-spectively.The drug resistance rates of the K.pneumoniae strains to imipenem and meropenem approximated to 30%,and the drug resistance rate to tigecycline was 19.84%.CONCLUSIONS The total incidence of SSI shows a downward trend in the 53 hospitals of Suzhou area.The S.aureus is the major species of pathogens,and some of the pathogens show high drug resistance rates.
9.Differential component analysis between Fructus Tritici Levis and Triticum aestivum based on qualitative and quantitative methods
Xuejiao LI ; Yu HU ; Yun CHEN ; Juan SHANG ; Zhenyang LI ; Yunhua FENG ; Jiandong ZOU ; Weifeng YAO ; Su LU ; Meijuan XU
China Pharmacy 2024;35(11):1296-1302
OBJECTIVE To analyze the compositional differences between Fructus Tritici Levis and Triticum aestivum, and to provide reference for identification and quality control of both. METHODS Twenty batches of Fructus Tritici Levis and three batches of T. aestivum were collected, and their fingerprints were acquired by high-performance liquid chromatography and the similarities were evaluated by the Evaluation System of Similarity of Chromatographic Fingerprints of Traditional Chinese Medicine (2012 version). Cluster analysis (CA), principal component analysis (PCA) and orthogonal partial least squares-discriminant analysis (OPLS-DA) were performed to analyze the difference of Fructus Tritici Levis and T. aestivum from different regions, and the differential components were screened. The contents of the six identified components in Fructus Tritici Levis and T. aestivum were determined. RESULTS The similarities of the fingerprints of Fructus Tritici Levis ranged from 0.928 to 0.996, and the relative similarities of T. aestivum with Fructus Tritici Levis ranged from 0.761 to 0.773. A total of 19 common peaks were calibrated, and six components including linolenic acid, linoleic acid, 5-heptadecylresorcinol, 5-nonadodecylresorcinol, 5- heneicosylresorcinol, and 5-tricosylresorcinol were identified. The results of CA and PCA showed that Fructus Tritici Levis and T. aestivum could be clearly distinguished; the distribution of Fructus Tritici Levis from Anhui province was relatively concentrated. The results of OPLS-DA showed that linolenic acid, linoleic acid, and other six unknown compounds were the differential components between Fructus Tritici Levis and T. aestivum. The average contents of the six identified components in Fructus Tritici Levis were 0.100 9, 1.094 0, 0.005 1, 0.030 9, 0.098 2,and 0.024 8 mg/g, respectively; the contents of linolenic acid and linoleic acid in Fructus Tritici Levis were significantly higher than those in T. aestivum (P<0.05).CONCLUSIONS The established qualitative and quantitative methods are simple and reliable, and can be used for the identification and quality evaluation of Fructus Tritici Levis and T. aestivum. The identified differential components, such as linolenic acid and linoleic acid, can also provide clues for the differentiation and pharmacological study of Fructus Tritici Levis and T. aestivum.
10.Differential component analysis between Fructus Tritici Levis and Triticum aestivum based on qualitative and quantitative methods
Xuejiao LI ; Yu HU ; Yun CHEN ; Juan SHANG ; Zhenyang LI ; Yunhua FENG ; Jiandong ZOU ; Weifeng YAO ; Su LU ; Meijuan XU
China Pharmacy 2024;35(11):1296-1302
OBJECTIVE To analyze the compositional differences between Fructus Tritici Levis and Triticum aestivum, and to provide reference for identification and quality control of both. METHODS Twenty batches of Fructus Tritici Levis and three batches of T. aestivum were collected, and their fingerprints were acquired by high-performance liquid chromatography and the similarities were evaluated by the Evaluation System of Similarity of Chromatographic Fingerprints of Traditional Chinese Medicine (2012 version). Cluster analysis (CA), principal component analysis (PCA) and orthogonal partial least squares-discriminant analysis (OPLS-DA) were performed to analyze the difference of Fructus Tritici Levis and T. aestivum from different regions, and the differential components were screened. The contents of the six identified components in Fructus Tritici Levis and T. aestivum were determined. RESULTS The similarities of the fingerprints of Fructus Tritici Levis ranged from 0.928 to 0.996, and the relative similarities of T. aestivum with Fructus Tritici Levis ranged from 0.761 to 0.773. A total of 19 common peaks were calibrated, and six components including linolenic acid, linoleic acid, 5-heptadecylresorcinol, 5-nonadodecylresorcinol, 5- heneicosylresorcinol, and 5-tricosylresorcinol were identified. The results of CA and PCA showed that Fructus Tritici Levis and T. aestivum could be clearly distinguished; the distribution of Fructus Tritici Levis from Anhui province was relatively concentrated. The results of OPLS-DA showed that linolenic acid, linoleic acid, and other six unknown compounds were the differential components between Fructus Tritici Levis and T. aestivum. The average contents of the six identified components in Fructus Tritici Levis were 0.100 9, 1.094 0, 0.005 1, 0.030 9, 0.098 2,and 0.024 8 mg/g, respectively; the contents of linolenic acid and linoleic acid in Fructus Tritici Levis were significantly higher than those in T. aestivum (P<0.05).CONCLUSIONS The established qualitative and quantitative methods are simple and reliable, and can be used for the identification and quality evaluation of Fructus Tritici Levis and T. aestivum. The identified differential components, such as linolenic acid and linoleic acid, can also provide clues for the differentiation and pharmacological study of Fructus Tritici Levis and T. aestivum.

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