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  • 1
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 12 ( 2021-11-3)
    Abstract: To establish a model to predict gestational diabetes mellitus (GDM) based on the clinical characteristics, early pregnancy (10-12 weeks gestation) peripheral blood routine, and biochemical indicators, and to explore its predictive efficiencies. Methods Data from 607 pregnant women with GDM were compared to the data from 833 pregnant women without GDM admitted to the Obstetrics Department of Fujian Maternity and Child Health Hospital (affiliated to Fujian Medical University) from May 2018 to December 2018 were retrospectively included. The ages of the pregnant women, paternal ages, number of pregnancies, number of deliveries, pre-pregnancy heights/weights, and the calculated body mass indexes (BMI) were recorded. In all participants, 10-12 weeks of pregnancy, afamin concentration, routine blood work, prenatal aneuploidy screening, and biochemical testing were performed. At weeks 24-28 of gestation, patients underwent oral glucose tolerance test (OGTT) for GDM screening. Results Multivariate logistic regression analysis showed that maternal age, early pregnancy afamin level, triglycerides, and platelet/lymphocyte ratio (PLR) were independent risk factors for gestational diabetes. The formula for predicting GDM probability was as follows: P = 1/1 + exp ( − 6.054 + 0.774 × triglycerides + 0.002 × afamin + 0.155 × age − 0.012 × PLR )]. From the established ROC curve, the area under the curve (AUC) was 0.748, indicating that the model has a good degree of discrimination. When the predictive probability cut-off value was set on 0.358, sensitivity, specificity, positive predictive value, and negative predictive value were 69.2%, 68.3%, 42.5%, and 86.2%, respectively, and the accuracy rate was 70.2%. The Hosmer-Lemeshow test results showed that the goodness of the model fit has a good calibration ability (χ2 = 12.269, df=8, P=0.140). Conclusions Maternal age, early pregnancy afamin level, triglycerides, and PLR are independent risk factors for gestational diabetes. When combined, the above indicators are helpful for prediction, early diagnosis, and intervention of gestational diabetes.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2592084-4
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  • 2
    Online Resource
    Online Resource
    Wiley ; 2021
    In:  Journal of Clinical Laboratory Analysis Vol. 35, No. 9 ( 2021-09)
    In: Journal of Clinical Laboratory Analysis, Wiley, Vol. 35, No. 9 ( 2021-09)
    Abstract: MicroRNAs (miRNAs) participate in the reactivation of γ‐globin expression in β‐thalassemia. However, the miRNA transcriptional profiles of pediatric β‐thalassemia remain unclear. Accordingly, in this study, we assessed miRNA expression in pediatric patients with β‐thalassemia. Methods Differentially expressed miRNAs in pediatric patients with β‐thalassemia were determined using microRNA sequencing. Results Hsa‐miR‐483‐3p , hsa‐let‐7f‐1‐3p , hsa‐let‐7a‐3p , hsa‐miR‐543 , hsa‐miR‐433‐3p , hsa‐miR‐4435 , hsa‐miR‐329‐3p , hsa‐miR‐92b‐5p , hsa‐miR‐6747‐3p and hsa‐miR‐495‐3p were significantly upregulated, whereas hsa‐miR‐4508 , hsa‐miR‐20a‐5p , hsa‐let‐7b‐5p , hsa‐miR‐93‐5p , hsa‐let‐7i‐5p , hsa‐miR‐6501‐5p , hsa‐miR‐221‐3p , hsa‐let‐7g‐5p , hsa‐miR‐106a‐5p , and hsa‐miR‐17‐5p were significantly downregulated in pediatric patients with β‐thalassemia. After integrating our data with a previously published dataset, we found that hsa‐let‐7b‐5p and hsa‐let‐7i‐5p expression levels were also lower in adolescent or adult patients with β‐thalassemia. The predicted target genes of hsa‐let‐7b‐5p and hsa‐let‐7i‐5p were associated with the transforming growth factor β receptor, phosphatidylinositol 3‐kinase/AKT, FoxO, Hippo, and mitogen‐activated protein kinase signaling pathways. We also identified 12 target genes of hsa‐let‐7a‐3p and hsa‐let‐7f‐1‐3p and 21 target genes of hsa‐let‐7a‐3p and hsa‐let‐7f‐1‐3p , which were differentially expressed in patients with β‐thalassemia. Finally, we found that hsa‐miR‐190‐5p and hsa‐miR‐1278‐5p may regulate hemoglobin switching by modulation of the B‐cell lymphoma/leukemia 11A gene. Conclusion The results of the study show that several microRNAs are dysregulated in pediatric β‐thalassemia. Further, the results also indicate toward a critical role of let7 miRNAs in the pathogenesis of pediatric β‐thalassemia, which needs to be investigated further.
    Type of Medium: Online Resource
    ISSN: 0887-8013 , 1098-2825
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2001635-9
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  • 3
    In: Journal of Clinical Laboratory Analysis, Wiley, Vol. 34, No. 8 ( 2020-08)
    Abstract: Accurate prediction of preterm birth (PTB) is still difficult, mostly because of the multifactorial etiology of PTB. Previous studies have been mostly focused on the prediction of PTB in symptomatic women or those presenting with threatened preterm labor. We aimed to study whether complete blood count (CBC) parameters at 20‐30 weeks of pregnancy can predict asymptomatic PTB. Methods In this retrospective case‐control study, the preterm and term delivery groups were matched by propensity score‐matched (PSM) analysis. Baseline data and the CBC parameters examined at 20‐30 weeks of gestation were recorded. Results The combined marker of neutrophil‐to‐lymphocyte ratio (NLR), hemoglobin (HGB), and platelet distribution width (PDW) accurately predicts PTB at a cutoff value of 0.25, with sensitivity and specificity of 88.6% and 40.5% and negative and positive predictive value of 97.9% and 10.2%, respectively. Conclusion The combined marker of CBC parameters can supplement other markers to predict PTB about 10 weeks in advance. This combined marker had a very high negative predictive value for PTB. Therefore, in subjects with normal combined marker value, further screening tests for PTB may be eliminated unless clinical suspicion is high.
    Type of Medium: Online Resource
    ISSN: 0887-8013 , 1098-2825
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2001635-9
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  • 4
    Online Resource
    Online Resource
    Frontiers Media SA ; 2022
    In:  Frontiers in Pediatrics Vol. 10 ( 2022-6-6)
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 10 ( 2022-6-6)
    Abstract: Fetal gastrointestinal tract obstruction (GITO) is the most frequently encountered gastrointestinal defect in the prenatal period. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies that were referred for invasive prenatal testing because of fetal GITO. According to the level of obstruction, they were classified into esophageal atresia/stenosis, duodenal atresia/stenosis, jejunal or ileal atresia/stenosis, or anal atresia. Traditional karyotyping was performed on all the 70 pregnancies, and chromosomal microarray analysis (CMA) was performed on 32 of them in parallel. Traditional karyotyping revealed twelve (17.1%) chromosomal abnormalities, including 11 cases of trisomy 21 (Down syndrome), and one case of a supernumerary marker chromosome related to Cat eye syndrome. According to the absence or presence of other ultrasound anomalies, they were categorized into isolated GITO ( n = 36) and non-isolated GITO ( n = 34). The rate of chromosomal abnormalities in the non-isolated GITO pregnancies was significantly higher than that in the isolated GITO pregnancies (29.4 vs. 5.5%, p & lt; 0.05); the survival rate in the isolated group was significantly higher than that in the non-isolated group (67.6 vs. 34.4%, p & lt; 0.05). Among the 32 cases where CMA was performed, an additional one (3.1%) copy number variant with clinical significance was noted in a fetus with normal karyotype. The microduplication on 7q12 was considered to be the genetic etiology of duodenal stenosis, although it was inherited from a phenotypically normal mother. Our study supports the strong association between Down syndrome and fetal GITO, especially duodenal stenosis. Our findings suggested that the risk of chromosomal abnormalities was increased when GITO was accompanied by other ultrasound anomalies; thus, chromosomal abnormalities and fetal anatomy should be carefully evaluated for pregnancy management of fetal GITO.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711999-3
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  • 5
    Online Resource
    Online Resource
    Informa UK Limited ; 2010
    In:  Hemoglobin Vol. 34, No. 6 ( 2010-12), p. 599-603
    In: Hemoglobin, Informa UK Limited, Vol. 34, No. 6 ( 2010-12), p. 599-603
    Type of Medium: Online Resource
    ISSN: 0363-0269 , 1532-432X
    Language: English
    Publisher: Informa UK Limited
    Publication Date: 2010
    detail.hit.zdb_id: 2098388-8
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  • 6
    In: Hemoglobin, Informa UK Limited, Vol. 37, No. 4 ( 2013-08), p. 343-350
    Type of Medium: Online Resource
    ISSN: 0363-0269 , 1532-432X
    Language: English
    Publisher: Informa UK Limited
    Publication Date: 2013
    detail.hit.zdb_id: 2098388-8
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  • 7
    In: Clinical Genetics, Wiley, Vol. 103, No. 4 ( 2023-04), p. 413-423
    Abstract: The fimbrin protein family contains a variety of proteins, among which Plastin1 (PLS1) is an important member. According to recent studies, variations in the coding region of the PLS1 gene are associated with the development of deafness. However, the molecular mechanism of deafness caused by PLS1 gene variants remains unknown. Whole‐exome sequencing was performed on hearing‐impaired family members and hearing family members to identify pathogenic variants, followed by Sanger sequencing. A minigene assay was conducted to investigate the effect of the variant on PLS1 mRNA splicing. The pathogenicity of the variant was further investigated in zebrafish. RNA‐sequencing (RNA‐seq) was performed to analyze the dysregulation of downstream signaling pathways caused by knockdown of PLS1 expression. We identified a novel variant, PLS1 c.981+1G 〉 A, in a large Chinese family with hearing loss and showed that the variant is responsible for the occurrence of hearing loss by inducing exon 8 skipping. The variant caused abnormal inner ear phenotypes, characterized by decreases in the mean otolith distance, anterior otolith diameter, posterior otolith diameter, cochlear diameter, and swimming speed and distance in zebrafish. Furthermore, silencing PLS1 expression significantly upregulated the expression of genes in the PI3K‐Akt signaling pathway, including Col6a3 , Spp1 , Itgb3 and hepatocyte growth factor ( Hgf ). PLS1 c.981+1G 〉 A is a novel pathogenic variant causing hearing loss by inducing exon 8 skipping. Upregulation of the expression of genes in the PI3K‐Akt signaling pathway plays an important role in the pathogenesis caused by variants in the PLS1 gene.
    Type of Medium: Online Resource
    ISSN: 0009-9163 , 1399-0004
    URL: Issue
    RVK:
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2004581-5
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  • 8
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 10 ( 2022-10-26)
    Type of Medium: Online Resource
    ISSN: 2296-2360
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711999-3
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  • 9
    Online Resource
    Online Resource
    SAGE Publications ; 2023
    In:  Experimental Biology and Medicine Vol. 248, No. 10 ( 2023-05), p. 858-865
    In: Experimental Biology and Medicine, SAGE Publications, Vol. 248, No. 10 ( 2023-05), p. 858-865
    Abstract: Multicystic dysplastic kidney (MCDK) is one of the most common fetal malformations, but its etiology remains unclear. Identification of the molecular etiology could provide a basis for prenatal diagnosis, consultation, and prognosis evaluation for MCDK fetuses. We used chromosome microarray analysis (CMA) and whole-exome sequencing (WES) to conduct genetic tests on MCDK fetuses and explore their genetic etiology. A total of 108 MCDK fetuses with or without other extrarenal abnormalities were selected. Karyotype analysis of 108 MCDK fetuses showed an abnormal karyotype in 4 (3.7%, 4/108) of the fetuses. However, CMA detected 15 abnormal copy number variations (CNVs) (14 pathogenic CNVs, and one variant of unknown significance [VUS] CNVs), in addition to four cases that were consistent with the results of karyotype analysis. Out of the 14 pathogenic CNVs cases, three were of 17q12 microdeletion, two of 22q11.21 microdeletion, 22q11.21 microduplication uniparental disomy (UPD), and one case of 4q31.3q32.2 microdeletion, 7q11.23 microduplication, 15q11.2 microdeletion, 16p11.2 microdeletion, and 17p12 microdeletion. Of the 89 MCDK fetuses with normal karyotype analysis and CMA, 15 were tested by WES. Two (13.3%, 2/15) fetuses were identified by WES as Bardet-Biedl syndrome (BBS) 1 and BBS2. Combined application of CMA-WES to detect MCDK fetuses can significantly improve the detection rate of genetic etiology, providing a basis for consultation, and prognosis evaluation.
    Type of Medium: Online Resource
    ISSN: 1535-3702 , 1535-3699
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2023
    detail.hit.zdb_id: 2020856-X
    SSG: 12
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  • 10
    In: Taiwanese Journal of Obstetrics and Gynecology, Elsevier BV, Vol. 55, No. 3 ( 2016-06), p. 379-384
    Type of Medium: Online Resource
    ISSN: 1028-4559
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2016
    detail.hit.zdb_id: 2202946-1
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