1.Construction of standardized training assessment index system for newly recruited nurses in Hematology Department
Lu WANG ; Jiahuan LI ; Xiaocan GUO ; Jie ZHOU
Chinese Journal of Modern Nursing 2023;29(20):2661-2666
Objective:To establish a standardized training assessment index system for newly recruited nurses in the Hematology Department, so as to provide reference for the quality evaluation of standardized training for newly recruited nurses in the Hematology Department.Methods:Taking the Kirkpatrick four-level model as the theoretical framework, combined with literature review, group discussion, and Delphi expert consultation, indicators were screened and weights were determined to ultimately determine the index system.Results:Around two rounds of consultation, the positivity coefficients of experts were 100% (15/15), and the authoritative coefficients of experts were 0.850 and 0.875, respectively. The Kendall's coordination coefficients of indicators at all levels for two rounds of consultation were 0.379 to 0.685 and 0.235 to 0.307, respectively. The final standardized training assessment index system for newly recruited nurses in the Hematology Department included four first-level indicators, 15 second-level indicators, and 57 third-level indicators.Conclusions:The standardized training assessment index system is scientific and standardized, with relatively reasonable content settings, which can provide reference for the standardized training assessment of newly recruited nurses in the Hematology Department.
2.The value of HDL particles,the concordance of HDL-C and apoA-Ⅰ in assessing the severity of coronary artery disease
Yaling LIANG ; Kai GUO ; Lu HU ; Yusheng MA ; Jiahuan RAO ; Jieni LONG ; Zhigang GUO
The Journal of Practical Medicine 2018;34(8):1267-1272,1277
Objective The study was to analyze the relationship between HDL particles,the level of HDL-C and the concordance of HDL-C and apoA-Ⅰand the degree of coronary stenosis,then to explore their values in predicting coronary artery disease.Methods 591 patients were collected for coronary angiography,and calculated Gensini score respectively.HDL particles and the level of HDL-C,apoA-Ⅰwere analyzed in coronary artery disease (CAD)group and non-CAD group,stable angina pectoris(SAP)group and acute coronary syndrome(ACS)group and four groups divided by quartile of Gensini score(A,B,C,D).To investigate the relationship between the con-cordance of HDL-C and apoA-Ⅰand the severity of coronary artery disease,HDL-C,apoA-Ⅰwere divided into low and high group according to the 50 percentile,then pair wise combination was done into four groups. Results Compared with non-CAD group,HDL particles,the level of HDL-C,apoA-Ⅰwere significantly reduced in CAD group(P<0.001).Compared with SAP group,similar results were found in ACS group.HDL particles,the level of HDL-C,apoA-Ⅰwere decreased gradually in A,B,C,D group(P<0.001).The concordance of HDL-C and apoA-Ⅰwas related to the risk of CAD(P<0.001).The area under curve(AUC)of HDL particles was higher than that of HDL-C,the concordance of HDL-C and apoA-Ⅰ.Conclusions HDL particles,HDL-C,the concordance of HDL-C and apoA-Ⅰwere related to coronary stenosis.The value of HDL particles in predicting CAD risk was su-perior to that of HDL-C,the concordance of HDL-C and apoA-Ⅰ.
3.Effect and mechanism study of PSRC1 overexpression on foam cell formation of RAW264.7
Lu HU ; Kai GUO ; Yaling LIANG ; Jiahuan RAO ; Yusheng MA ; Jieni LONG ; Zhigang GUO
The Journal of Practical Medicine 2017;33(23):3854-3857
Objective To investigate the effect and potential mechanism of PSRC1 overexpression on foam cell formation of oxidized low-density lipoprotein(ox-LDL)-induced RAW264.7. Method After 48-h treat-ment of 100 μg/ml ox-LDL,changes of the accumulation of cholesterol esters in two groups was detected by oil red O staining.The protein expression of SR-AⅠand LDLR was detected by Western blot assay.Besides,ELISA was used to detect levels of IL-6 and TNF-α.Result The accumulation of cholesterol esters was lower in Ad-PSRC1 group than that in Ad-GFP group(P<0.05). The protein expression of SR-AⅠand LDLR was decreased signifi-cantly(P<0.05),and levels of the secreted IL-6 and TNF-α were also significantly decreased(P<0.05).Con-clusion Our data indicates that PSRC1 overexpression suppresses the formation of foam cells through improving lipid metabolism and down-regulating inflammatory cytokine IL-6 and TNF-α in macrophages.
4.Research progress on mechanisms and treatments of cognitive dysfunction in atrial fibrillation
Jiahuan GUO ; Jingjing LU ; Xingquan ZHAO
Chinese Journal of Neurology 2023;56(12):1428-1434
Increasing evidence suggests that atrial fibrillation is associated with an increased risk of cognitive impairment and dementia beyond its association with stroke and mortality. The association is independent of stroke. However, the association between atrial fibrillation and cognitive function has often been overlooked in the management and treatment in clinical practice. There is a lack of consensus on the relationship and its mechanisms between atrial fibrillation and brain dysfunction. Whether treatments targeted atrial fibrillation are effective for brain function remains unknown. Through reviewing relevant literatures, this article analyzed the association between atrial fibrillation and its underlying mechanisms. Furthermore, this article further discussed the effectiveness of atrial fibrillation treatments to cognitive function and brain health.
5.Association between white blood cell count,absolute and relative neutrophil count and prognosis in young patients with ischemic stroke
Jiaokun JIA ; Yanfang LIU ; Jiahuan GUO
Journal of Apoplexy and Nervous Diseases 2022;39(8):676-680
Objective This study aims to explore the correlation between white blood cell count (WBC),absolute neutrophil count (ANC),relative neutrophil count (RNC) and neurological impairment,poor prognosis at discharge and 90 days after onset.Methods This study was a retrospective study,including patients aged 18 to 45 years old with first ischemic stroke within 72 hours.NIHSS score at discharge,mRS score at discharge and 90 days were used as outcome.Multivariate logistic regression was used to analyze the relationship between WBC quartile,ANC,RNC and neurological deficit (NIHSS score>4) and poor prognosis (mRS score 2~5).Results WBC>7.82×10 9/L was independently associated with moderate and severe neurological deficit at discharge and poor prognosis at 90 days.The ANC was only associated with poor prognosis at 90 days,independently.The RNC was an independent risk factor for moderate and severe neurological impairment at discharge,poor prognosis at discharge and 90 days.Conclusion WBC>7.82×10-9/L is an independent risk factor for moderate and severe neurological impairment at discharge and poor prognosis at 90 days in young patients with stroke.The increase of RNC,which is independently related to moderate and severe neurological impairment and poor prognosis,is more indicative than ANC for poor prognosis in young patients with stroke.
6.Progress in bHLH transcription factors regulating the response to iron deficiency in plants.
Jiahuan DU ; Lihong ZHAI ; Donglin GUO
Chinese Journal of Biotechnology 2019;35(5):766-774
Iron is one of the essential mineral micronutrients for plants. Low concentrations of effective iron in soil can easily increase risk of plant iron deficiency. Several members of bHLH transcription factors family participate in the response to iron deficiency and play an important role in iron regulation of plants. In order to better understand the mechanism of iron deficiency response, an overview of the structure, classification, function and regulatory mechanism of bHLH transcription factors was given in this review as well as signaling pathway triggered by iron deficiency. It will provide theoretical basis and design strategies for cultivating iron deficiency tolerant or iron-rich crops using bHLH transcription factors.
Arabidopsis
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genetics
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metabolism
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Basic Helix-Loop-Helix Transcription Factors
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genetics
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metabolism
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Gene Expression Regulation, Plant
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Iron
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deficiency
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Signal Transduction
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physiology
7.Early warning of low maternal unconjugated estriol level by prenatal screening for fetus with X-linked ichthyosis
Hongyan LIU ; Xi LI ; Jia HUANG ; Dairong FENG ; Kan LIU ; Jiahuan HE ; Qiannan GUO ; Keyue DING ; Guiyu LOU ; Yue WANG
Chinese Journal of Obstetrics and Gynecology 2022;57(6):407-412
Objective:To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE 3) levels and XLI. Methods:A total of 56 fetuses with Xp22.31 microdeletion indicated by prenatal diagnosis and 70 fetuses diagnosed with trisomy 21 and 26 fetuses with trisomy 18 in Henan Provincial People's Hospital and Affiliated Hospital of Weifang Medical College from September 2016 to June 2021 were collected. The multiples of median (MoM) values of uE 3, alpha-fetoprotein (AFP), and human chorionic gonadotropin (hCG) during the second trimester of pregnancy were retrospectively analyzed. Prenatal diagnosis was made by amniotic fluid karyotype analysis and genome copy number variant analysis, parent genetic verification and pathogenicity analysis were performed, and maternal and infant outcomes were followed up. Results:Of 56 pregnant women with fetal Xp22.31 microdeletion, 43 underwent serological screening during the second trimester of pregnancy, of which 42 were abnormal (39 male fetuses and 3 female fetuses). The median uE 3 MoM value of 39 male fetuses [0.06 (0.00-0.21)] was lower than the normal value and significantly lower than that of fetuses with trisomy 21 [0.71 (0.26-1.27)] and fetuses with trisomy 18 [0.36 (0.15-0.84)], the difference was statistically significant ( Z=99.96, P<0.001). While the MoM values of AFP and hCG were all within the normal range. Among the 56 fetuses carrying Xp22.31 microdeletion, 45 were male fetuses and 11 were female fetuses, and the deletion fragments all involved STS gene. Eighty-nine percent (50/56) were inherited from mother (49 cases) or father (1 case), and 11% (6/56) were de novo mutations. Follow-up showed 48 live births (38 males and 10 females) and 8 chose to terminate pregnancy (7 males and 1 female). Among the 38 male newborns, 37 presented with scaly skin changes from 1 to 3 months of age, and one had no clinical manifestations until 4 months after birth. Ten female newborns had no obvious clinical manifestations. Conclusions:The decrease levels of uE 3 MoM on maternal serological screening is closely related to the higher risk of XLI in male fetuses. For pregnant women with low uE 3 in serological screening or with family history of ichthyosis, in addition to chromosomal karyotype analysis, joint detection of genomic copy number variant analysis should be recommended.
8.Copy number variation analysis and outcomes of 1 658 fetuses with increased nuchal translucency
Jia HUANG ; Dong WU ; Jiahuan HE ; Yue GAO ; Xi LI ; Hongdan WANG ; Guiyu LOU ; Qiannan GUO ; Yue WANG ; Ruili WANG ; Hongyan LIU
Chinese Journal of Perinatal Medicine 2023;26(1):26-32
Objective:To analyze the genetic etiology and prognosis in fetuses with increased nuchal translucency (NT) in order to assist in the clinical prenatal genetic counseling and diagnosis.Methods:This study retrospectively enrolled 1 658 cases of singleton pregnancy (<35 years old) receiving invasive prenatal diagnosis, including karyotype analysis and/or chromosome microarray analysis or copy number variation (CNV) sequencing, due to NT value ≥2.5 mm in the first trimester in Henan Provincial People's Hospital from August 2014 to December 2021. They were divided into different groups according to the thickness of NT (≥2.5-<3.0, ≥3.0-<3.5, ≥3.5-<4.5, ≥4.5-<5.5, ≥5.5-<6.5 and ≥6.5 mm groups) and abnormal ultrasound findings (isolated increased NT group, increased NT complicated by soft markers/non-severe structural abnormality group and increased NT complicated by severe structural abnormality group). The results of invasive prenatal diagnosis and pregnancy outcomes were compared between different groups using Chi-square test and trend Chi-square test. Results:The detection rates of numerical abnormalities of chromosomes were 15.8% (262/1 658) and 17.6% (252/1 431) when the NT thickness cut-off value were 2.5 mm or 3.0 mm, respectively. Overall, the detection rate of numerical abnormalities of chromosomes increased with thickness of NT ( χ2trend=180.75, P<0.001), ranging from 6.6% (44/671) in the NT≥2.5-<3.5 mm group to 45.6% (113/248) in the NT≥5.5 mm group. The incidence of pathogenic/likely pathogenic CNV(P/LP CNV) did not increased with NT thickness ( χ2trend=3.26, P=0.071), and the highest detection rate was observed in the NT≥4.5-<5.5 mm group (9.0%, 19/211). The detection rate of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥2.5-<3.0 mm group and NT≥3.0-<3.5 mm group were 5.3% (10/188) and 9.6% (36/375), respectively, however, the difference was not statistically significant ( χ2=3.06, P=0.080). The detection rates of numerical abnormalities of chromosomes plus P/LP CNV in the isolated NT≥3.5-<4.5 mm group and NT≥2.5-<3.0 mm complicated by soft markers/ non-severe structural abnormality group were 12.7% (52/410) and 24.1% (7/29), respectively, and the risk were 2.6 times (95% CI: 1.3-5.2) and 5.7 times (95% CI: 2.0-16.4) of the isolated NT≥2.5-<3.0 mm group, respectively. The pregnancy termination rate increased with the NT thickness ( χ2trend=304.42, P<0.001), ranging from 10.8% (23/212) in the NT≥2.5-<3.0 mm group to 90.7% (117/129) in the NT≥6.5 mm group. After exclusion of the pregnancies terminated due to numerical abnormalities of chromosomes and P/LP CNV, 87.6% (862/984) of the fetus with increased NT were born alive. Conclusions:The detection rate of numerical abnormalities of chromosomes increases with the thickness of NT. Invasive prenatal diagnosis is required for non-advance aged singleton pregnant women when fetuses present with isolated NT≥2.5 mm with or without soft markers/structural abnormalities.
9.Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy.
Jia HUANG ; Dong WU ; Yue GAO ; Qiancheng LI ; Chaoyang ZHANG ; Jiahuan HE ; Xi LI ; Hongdan WANG ; Qiannan GUO ; Guiyu LOU ; Yue WANG ; Hongyan LIU
Chinese Journal of Medical Genetics 2022;39(5):468-473
OBJECTIVE:
To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.
METHODS:
7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.
RESULTS:
Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.
CONCLUSION
Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.
Amniotic Fluid
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Aneuploidy
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Chromosome Aberrations
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DNA Copy Number Variations
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Female
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Genomics
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Humans
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Pregnancy
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Pregnancy Trimester, Second
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Pregnant Women
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Prenatal Diagnosis/methods*
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Technology
10.REDH: A database of RNA editome in hematopoietic differentiation and malignancy
Jiayue XU ; Jiahuan HE ; Jiabin YANG ; Fengjiao WANG ; Yue HUO ; Yuehong GUO ; Yanmin SI ; Yufeng GAO ; Fang WANG ; Hui CHENG ; Tao CHENG ; Jia YU ; Xiaoshuang WANG ; Yanni MA
Chinese Medical Journal 2024;137(3):283-293
Background::The conversion of adenosine (A) to inosine (I) through deamination is the prevailing form of RNA editing, impacting numerous nuclear and cytoplasmic transcripts across various eukaryotic species. Millions of high-confidence RNA editing sites have been identified and integrated into various RNA databases, providing a convenient platform for the rapid identification of key drivers of cancer and potential therapeutic targets. However, the available database for integration of RNA editing in hematopoietic cells and hematopoietic malignancies is still lacking.Methods::We downloaded RNA sequencing (RNA-seq) data of 29 leukemia patients and 19 healthy donors from National Center for Biotechnology Information (NCBI) Gene Expression Omnibus (GEO) database, and RNA-seq data of 12 mouse hematopoietic cell populations obtained from our previous research were also used. We performed sequence alignment, identified RNA editing sites, and obtained characteristic editing sites related to normal hematopoietic development and abnormal editing sites associated with hematologic diseases.Results::We established a new database, "REDH", represents RNA editome in hematopoietic differentiation and malignancy. REDH is a curated database of associations between RNA editome and hematopoiesis. REDH integrates 30,796 editing sites from 12 murine adult hematopoietic cell populations and systematically characterizes more than 400,000 edited events in malignant hematopoietic samples from 48 cohorts (human). Through the Differentiation, Disease, Enrichment, and knowledge modules, each A-to-I editing site is systematically integrated, including its distribution throughout the genome, its clinical information (human sample), and functional editing sites under physiological and pathological conditions. Furthermore, REDH compares the similarities and differences of editing sites between different hematologic malignancies and healthy control.Conclusions::REDH is accessible at http://www.redhdatabase.com/. This user-friendly database would aid in understanding the mechanisms of RNA editing in hematopoietic differentiation and malignancies. It provides a set of data related to the maintenance of hematopoietic homeostasis and identifying potential therapeutic targets in malignancies.