Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 55
Filtrar
1.
J Diabetes Complications ; 38(8): 108796, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38991491

RESUMEN

AIMS: To elucidate the clinical and pathological characteristics of gestational diabetes mellitus (GDM) with high and low insulin resistance. METHODS: In total, 1393 GDM and 1001 non-GDM singleton deliveries were included in this study. Insulin resistance subtypes were classified according to the HOMA2-IR value. Clinical data were analyzed using SPSS 26.0. Placenta samples were collected for pathological analysis. RESULTS: Maternal age and fasting glucose were identified as independent risk factors for GDM with high insulin resistance (p < 0.01), while fasting glucose was the sole risk factor for GDM with low insulin resistance (p < 0.001). Fetal distress was associated with both of GDM subtypes (both p < 0.01), while anemia, fetal growth restriction, large for gestational age and intrahepatic cholestasis in pregnancy were related to specific GDM insulin resistance subtype. In addition, GDM with high insulin resistance showed an increase of syncytial knots with down-regulation of PI3K/AKT signaling, while GDM with low insulin resistance showed normal syncytial knot counts and up-regulation of PI3K/AKT signaling. CONCLUSIONS: Our findings provide novel perspectives to the clinical and pathological comprehensions of GDM with high and low insulin resistance, which might facilitate the mechanism study of GDM and its precision pregnancy management.


Asunto(s)
Diabetes Gestacional , Resistencia a la Insulina , Placenta , Humanos , Embarazo , Femenino , Resistencia a la Insulina/fisiología , Adulto , Placenta/patología , Placenta/metabolismo , Glucemia/análisis , Glucemia/metabolismo , Factores de Riesgo , Edad Materna , Transducción de Señal
2.
Cell Prolif ; : e13676, 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38837535

RESUMEN

DDB1-Cullin-4-associated factor-2 (DCAF2, also known as DTL or CDT2), a conserved substrate recognition protein of Cullin-RING E3 ligase 4 (CRL4), recognizes and degrades several substrate proteins during the S phase to maintain cell cycle progression and genome stability. Dcaf2 mainly expressed in germ cells of human and mouse. Our study found that Dcaf2 was expressed in mouse spermatogonia and spermatocyte. The depletion of Dcaf2 in germ cells by crossing Dcaf2fl/fl mice with stimulated by retinoic acid gene 8(Stra8)-Cre mice caused a reduction in progenitor spermatogonia and differentiating spermatogonia, eventually leading to the failure of meiosis initiation and male infertility. Further studies showed that depletion of Dcaf2 in germ cells caused abnormal accumulation of the substrate proteins, cyclin-dependent kinase inhibitor 1A (p21) and thymine DNA glycosylase (TDG), decreasing of cell proliferation, increasing of DNA damage and apoptosis. Overexpression of p21 or TDG attenuates proliferation and increases DNA damage and apoptosis in GC-1 cells, which is exacerbated by co-overexpression of p21 and TDG. The findings indicate that DCAF2 maintains the proliferation and differentiation of progenitor spermatogonia by targeting the substrate proteins p21 and TDG during the S phase.

3.
Nat Commun ; 15(1): 5312, 2024 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-38906856

RESUMEN

Drug exposure during pregnancy lacks global fetal safety data. The maternal drug exposure birth cohort (DEBC) study, a prospective longitudinal investigation, aims to explore the correlation of maternal drug exposure during pregnancy with pregnancy outcomes, and establish a human biospecimen biobank. Here we describe the process of establishing DEBC and show that the drug exposure rate in the first trimester of pregnant women in DEBC (n = 112,986) is 30.70%. Among the drugs used, dydrogesterone and progesterone have the highest exposure rates, which are 11.97% and 10.82%, respectively. The overall incidence of adverse pregnancy outcomes is 13.49%. Dydrogesterone exposure during the first trimester is correlated with higher incidences of stillbirth, preterm birth, low birth weight, and birth defects, along with a lower incidence of miscarriage/abortion. Due to the limitations of this cohort study, causative conclusions cannot be drawn. Further follow-up and in-depth data analysis are planned for future studies.


Asunto(s)
Exposición Materna , Resultado del Embarazo , Primer Trimestre del Embarazo , Nacimiento Prematuro , Humanos , Femenino , Embarazo , China/epidemiología , Exposición Materna/efectos adversos , Adulto , Nacimiento Prematuro/epidemiología , Estudios Prospectivos , Resultado del Embarazo/epidemiología , Didrogesterona/efectos adversos , Progesterona , Cohorte de Nacimiento , Recién Nacido , Aborto Espontáneo/epidemiología , Aborto Espontáneo/inducido químicamente , Mortinato/epidemiología , Recién Nacido de Bajo Peso , Estudios Longitudinales , Incidencia , Adulto Joven
4.
Mol Genet Genomic Med ; 12(4): e2440, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38634212

RESUMEN

BACKGROUND: Malformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral palsy cannot be observed in the fetus. Therefore, the diagnosis of MCD is typically based on fetal brain magnetic resonance imaging (MRI), ultrasound, or genetic testing. The recent advances in neuroimaging have enabled the in-utero diagnosis of MCD using fetal ultrasound or MRI. METHODS: The present study retrospectively reviewed 32 cases of fetal MCD diagnosed by ultrasound or MRI. Then, the chromosome karyotype analysis, single nucleotide polymorphism array or copy number variation sequencing, and whole-exome sequencing (WES) findings were presented. RESULTS: Pathogenic copy number variants (CNVs) or single-nucleotide variants (SNVs) were detected in 22 fetuses (three pathogenic CNVs [9.4%, 3/32] and 19 SNVs [59.4%, 19/32]), corresponding to a total detection rate of 68.8% (22/32). CONCLUSION: The results suggest that genetic testing, especially WES, should be performed for fetal MCD, in order to evaluate the outcomes and prognosis, and predict the risk of recurrence in future pregnancies.


Asunto(s)
Variaciones en el Número de Copia de ADN , Diagnóstico Prenatal , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal/métodos , Pruebas Genéticas/métodos
5.
Eur J Obstet Gynecol Reprod Biol ; 297: 91-95, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38603985

RESUMEN

OBJECTIVES: To evaluate the the diagnostic yield of chromosomal microarray analysis (CMA) in fetuses with isolated CPC (iCPC). METHODS: A total of 315 fetuses with iCPC (iCPC group) and 364 fetuses without abnormal ultrasound findings (control group) were recruited between July 2014 to March 2018. RESULTS: The overall diagnostic yield of chromosomal abnormalities by CMA and karyotyping in iCPC group was up to 4.1 %, higher than 1.4 % in the control group, p < 0.05. The detection rate of pathogenic or likely pathogenic copy number variants (CNVs) with clinical significance by CMA in iCPC group (1.3 %) was higher than in control group (0 %), p < 0.05. According to the type of chromosome abnormalities, the missed diagnosis rate of non-invasive prenatal testing (NIPT) was 1.6 % in our study. CONCLUSIONS: The presence of iCPC on ultrasound examination suggests a potential indication for genetic counseling. Karyotyping and chromosomal microarray analysis may be considered for fetuses with iCPC. It is important to be aware of the limitations of non-invasive prenatal testing, as there is a possibility of residual risk.


Asunto(s)
Aberraciones Cromosómicas , Cariotipificación , Análisis por Micromatrices , Humanos , Femenino , Cariotipificación/métodos , Embarazo , Estudios Retrospectivos , Análisis por Micromatrices/métodos , Estudios de Casos y Controles , Adulto , Aberraciones Cromosómicas/embriología , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal , Plexo Coroideo/diagnóstico por imagen
6.
Br J Nutr ; 131(8): 1425-1435, 2024 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-38185814

RESUMEN

Few studies have evaluated the joint effect of trace elements on spontaneous preterm birth (SPTB). This study aimed to examine the relationships between the individual or mixed maternal serum concentrations of Fe, Cu, Zn, Se, Sr and Mo during pregnancy, and risk of SPTB. Inductively coupled plasma MS was employed to determine maternal serum concentrations of the six trace elements in 192 cases with SPTB and 282 controls with full-term delivery. Multivariate logistic regression, weighted quantile sum regression (WQSR) and Bayesian kernel machine regression (BKMR) were used to evaluate the individual and joint effects of trace elements on SPTB. The median concentrations of Sr and Mo were significantly higher in controls than in SPTB group (P < 0·05). In multivariate logistic regression analysis, compared with the lowest quartile levels of individual trace elements, the third- and fourth-quartile Sr or Mo concentrations were significantly associated with reduced risk of SPTB with adjusted OR (aOR) of 0·432 (95 CI < 0·05). In multivariate logistic regression analysis, compared with the lowest quartile levels of individual trace elements, the third- and fourth-quartile Sr or Mo concentrations were significantly associated with reduced risk of SPTB with adjusted aOR of 0·432 (95 % CI 0·247, 0·756), 0·386 (95 % CI 0·213, 0·701), 0·512 (95 % CI 0·297, 0·883) and 0·559 (95 % CI 0·321, 0·972), respectively. WQSR revealed the inverse combined effect of the trace elements mixture on SPTB (aOR = 0·368, 95 % CI 0·228, 0·593). BKMR analysis confirmed the overall mixture of the trace elements was inversely associated with the risk of SPTB, and the independent effect of Sr and Mo was significant. Our findings suggest that the risk of SPTB decreased with concentrations of the six trace elements, with Sr and Mo being the major contributors.


Asunto(s)
Nacimiento Prematuro , Oligoelementos , Embarazo , Femenino , Recién Nacido , Humanos , Estudios de Casos y Controles , Teorema de Bayes , China/epidemiología
7.
Mol Genet Genomic Med ; 12(1): e2293, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37828787

RESUMEN

BACKGROUND: Pre-implantation genetic testing for monogenic disorders (PGT-M) is an effective approach to reducing the incidence of birth defects by preventing the transmission of inherited diseases to offspring. However, there are still controversies regarding the detection methods and transplantation of embryos. This paper aims to evaluate the effectiveness of different detection technologies applied to PGT-M through a retrospective analysis of clinical detection data. METHODS: The carrier status of pathogenic mutations and chromosomal copy number variants (CNVs) in 892 embryos was characterized using next-generation sequencing (NGS), single-nucleotide polymorphism (SNP) array, and PCR-based detection technologies. Clinical data from PGT-M cases were retrospectively analyzed to assess the effectiveness of these detection methods in identifying genetic abnormalities in embryos. RESULTS: A total of 829 embryos were analyzed, with 63 being unsuccessful. Our study revealed that the success rate of detecting deletional mutations using Gap-PCR 84.9%, which is lower than that of SNP array (98.7%) and NGS (92.5%). However, no significant difference was observed when detecting point mutations using any of the methods. These findings suggest that, when detecting deletional mutations, SNP array and NGS are more suitable choices compared to Gap-PCR. While SNP array may have a lower resolution and success rate (80.5%) in analyzing CNVs compared to NGS (95.5%), it may still be useful for revealing certain abnormal types. CONCLUSION: In conclusion, this study found that SNP analysis is advantageous for identifying polygenic and deletional mutations, whereas NGS is more cost-efficient for detecting common monogenic diseases. Additionally, SNP-based haplotyping and PCR-based direct detection of mutations can be used together to enhance the accuracy and success rates of PGT-M. Our findings offer valuable insights for PGT technicians in choosing suitable detection methods for patients.


Asunto(s)
Diagnóstico Preimplantación , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Diagnóstico Preimplantación/métodos , Pruebas Genéticas/métodos , Técnicas de Diagnóstico Molecular , Mutación
8.
Artículo en Inglés | MEDLINE | ID: mdl-37943645

RESUMEN

Cloth-changing person re-identification (ReID) is a newly emerging research topic that aims to retrieve pedestrians whose clothes are changed. Since the human appearance with different clothes exhibits large variations, it is very difficult for existing approaches to extract discriminative and robust feature representations. Current works mainly focus on body shape or contour sketches, but the human semantic information and the potential consistency of pedestrian features before and after changing clothes are not fully explored or are ignored. To solve these issues, in this work, a novel semantic-aware attention and visual shielding network for cloth-changing person ReID (abbreviated as SAVS) is proposed where the key idea is to shield clues related to the appearance of clothes and only focus on visual semantic information that is not sensitive to view/posture changes. Specifically, a visual semantic encoder is first employed to locate the human body and clothing regions based on human semantic segmentation information. Then, a human semantic attention (HSA) module is proposed to highlight the human semantic information and reweight the visual feature map. In addition, a visual clothes shielding (VCS) module is also designed to extract a more robust feature representation for the cloth-changing task by covering the clothing regions and focusing the model on the visual semantic information unrelated to the clothes. Most importantly, these two modules are jointly explored in an end-to-end unified framework. Extensive experiments demonstrate that the proposed method can significantly outperform state-of-the-art methods, and more robust features can be extracted for cloth-changing persons. Compared with multibiometric unified network (MBUNet) (published in TIP2023), this method can achieve improvements of 17.5% (30.9%) and 8.5% (10.4%) on the LTCC and Celeb-reID datasets in terms of mean average precision (mAP) (rank-1), respectively. When compared with the Swin Transformer (Swin-T), the improvements can reach 28.6% (17.3%), 22.5% (10.0%), 19.5% (10.2%), and 8.6% (10.1%) on the PRCC, LTCC, Celeb, and NKUP datasets in terms of rank-1 (mAP), respectively.

9.
Front Pediatr ; 11: 1165477, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37547102

RESUMEN

Background: Birth defects (BDs) are associated with many potential risk factors, and its causes are complex. Objectives: This study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs. Methods: BDs data of perinatal infants (PIs) were obtained from the Guangxi birth defects monitoring network between 2016 and 2020. Univariate Poisson regression was used to calculate the prevalence-rate ratios (PRR) to explore the changing trends of BDs prevalence by year and the correlation between the regarding of characteristics of BDs (including infant gender, maternal age, and quarter) and BDs. Clinical characteristics of PIs with BDs and general characteristics of their mothers were documented, and Spearman correlation analysis was used to explore the potential associated risk factors of BDs. Results: Between 2016 and 2020, 44,146 PIs with BDs were monitored, with an overall BDs prevalence of 121.71 (95% CI: 120.58-122.84) per 10,000 PIs, showing a significant increase trend (PRR = 1.116, 95% CI: 1.108-1.123), especially the prevalence of congenital heart defects (CHDs) that most significantly increased (PRR = 1.300, 95% CI: 1.283-1.318). The 10 most common BDs were CHDs, polydactyly, congenital talipes equinovarus, other malformation of external ear, syndactyly, hypospadias, cleft lip with cleft palate, cleft lip, hemoglobin Bart's hydrops fetalis syndrome (BHFS), and congenital atresia of the rectum and anus. BDs were positively correlated with pregnant women's age (R = 0.732, P < 0.01) and education level (R = 0.586, P < 0.05) and having pre-gestational diabetes mellitus (PGDM)/gestational diabetes mellitus (GDM) (R = 0.711, P < 0.01), while when the pregnant women had a family history of a dead fetus (R = -0.536, P < 0.05) and a birth of a fetus with BDs (R = -0.528, P < 0.05) were negatively correlated with BDs. Conclusion: A significant increase in the prevalence of BDs was detected between 2016 and 2020 in Guangxi, especially the prevalence of CHDs that most significantly increased. Older maternal age, higher maternal education level, and having PGDM before pregnancy or GDM in early pregnancy were the risk factors for BDs.

11.
Int J Gynaecol Obstet ; 162(3): 1033-1041, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37128813

RESUMEN

OBJECTIVE: To analyze the associations between gestational weight gain (GWG) and perinatal outcomes based on the GWG guidelines of the Chinese Nutrition Society (CNS) and the Institute of Medicine (IOM). METHODS: This was a retrospective study with 9075 low-risk singleton pregnant women. Logistic regression model was used to analyze associations between GWG categories and perinatal outcomes. Sensitivity analyses were performed based on pre-pregnancy body mass index (calculated as weight in kilograms divided by the square of height in meters). RESULTS: Excessive GWG as defined by the two guidelines was associated with a higher risk of adverse perinatal outcomes. Inadequate GWG was associated with higher risks of small for gestational age (adjusted odds ratio [aOR] 1.34, 95% confidence interval [CI] 1.10-1.64) and preterm birth (aOR 1.70, 95% CI 1.22-2.36), but a lower risk of large for gestational age (LGA) (aOR 0.77, 95% CI 0.63-0.95) according to the IOM guidelines. When using the CNS guidelines, inadequate GWG was associated with only a lower risk of preterm birth (aOR 1.80, 95% CI 1.19-2.70). Sensitivity analyses suggested that excessive GWG was associated with a higher risk of LGA in underweight women. CONCLUSIONS: Both guidelines could demonstrate the relationship between GWG and adverse perinatal outcomes. The CNS guidelines were more suitable for the Chinese population with underweight or normal weight before pregnancy, whereas IOM was more suitable for pregnant women with inadequate GWG.


Asunto(s)
Ganancia de Peso Gestacional , Nacimiento Prematuro , Recién Nacido , Embarazo , Estados Unidos , Femenino , Humanos , Estudios Retrospectivos , National Academies of Science, Engineering, and Medicine, U.S., Health and Medicine Division , Estudios de Cohortes , Nacimiento Prematuro/epidemiología , Delgadez/complicaciones , Delgadez/epidemiología , Aumento de Peso
12.
Genes (Basel) ; 14(5)2023 04 29.
Artículo en Inglés | MEDLINE | ID: mdl-37239374

RESUMEN

miR-144/451 and nuclear factor (erythroid-derived 2)-like 2 (Nrf2) regulate two antioxidative systems that have been identified to maintain redox homeostasis in erythroid cells by removing excess reactive oxygen species (ROS). Whether these two genes coordinate to affect ROS scavenging and the anemic phenotype, or which gene is more important for recovery from acute anemia, has not been explored. To address these questions, we crossed miR-144/451 knockout (KO) and Nrf2 KO mice and examined the phenotype change in the animals as well as the ROS levels in erythroid cells either at baseline or under stress condition. Several discoveries were made in this study. First, Nrf2/miR-144/451 double-KO mice unexpectedly exhibit similar anemic phenotypes as miR-144/451 single-KO mice during stable erythropoiesis, although compound mutations of miR-144/451 and Nrf2 lead to higher ROS levels in erythrocytes than single gene mutations. Second, Nrf2/miR-144/451 double-mutant mice exhibit more dramatic reticulocytosis than miR-144/451 or Nrf2 single-KO mice during days 3 to 7 after inducing acute hemolytic anemia using phenylhydrazine (PHZ), indicating a synergistic effect of miR-144/451 and Nrf2 on PHZ-induced stress erythropoiesis. However, the coordination does not persist during the whole recovery stage of PHZ-induced anemia; instead, Nrf2/miR-144/451 double-KO mice follow a recovery pattern similar to miR-144/451 single-KO mice during the remaining period of erythropoiesis. Third, the complete recovery from PHZ-induced acute anemia in miR-144/451 KO mice takes longer than in Nrf2 KO mice. Our findings demonstrate that complicated crosstalk between miR-144/451 and Nrf2 does exist and the crosstalk of these two antioxidant systems is development-stage-dependent. Our findings also demonstrate that miRNA deficiency could result in a more profound defect of erythropoiesis than dysfunctional transcription factors.


Asunto(s)
Anemia Hemolítica , MicroARNs , Factor 2 Relacionado con NF-E2 , Animales , Ratones , Anemia Hemolítica/genética , Anemia Hemolítica/inducido químicamente , Antioxidantes/farmacología , Eritrocitos , Hemólisis , Ratones Noqueados , Factor 2 Relacionado con NF-E2/genética , Especies Reactivas de Oxígeno , MicroARNs/genética
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(5): 538-542, 2023 May 10.
Artículo en Chino | MEDLINE | ID: mdl-37102285

RESUMEN

OBJECTIVE: To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance. METHODS: 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately. Chromosomal karyotyping analysis and single nucleotide polymorphism array (SNP array) assay were carried out. RESULTS: The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes, with an incidence of 3.4% (5/148). SNP array assay showed that 3 fetuses were mosaics. CONCLUSION: Genetic discordance occurs among MCDA twins, and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine, and personalized clinical management should be recommended.


Asunto(s)
Amniocentesis , Gemelos , Niño , Embarazo , Femenino , Humanos , China , Gemelos/genética , Cariotipificación , Feto , Gemelos Monocigóticos/genética , Ultrasonografía Prenatal , Estudios Retrospectivos
14.
Front Psychol ; 14: 1123578, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36844262

RESUMEN

Stock market analysis is helpful for investors to make reasonable decisions and maintain market stability, and it usually involves not only quantitative data but also qualitative information, so the analysis method needs to have the ability to deal with both types of information comprehensively. In addition, due to the inherent risk of stock investment, it is necessary to ensure that the analysis results can be traced and interpreted. To solve the above problems, a stock market analysis method based on evidential reasoning (ER) and hierarchical belief rule base (HBRB) is proposed in this paper. First, an evaluation model is constructed based on expert knowledge and ER to evaluate stock market sentiment. Then, a stock market decision model based on HBRB is constructed to support investment decision making, such as buying and selling stocks and holding positions. Finally, the Shanghai Stock Index from 2010 to 2019 is used as an example to verify the applicability and effectiveness of the proposed stock market analysis method for investment decision support. Experimental research demonstrates that the proposed method can help analyze the stock market comprehensively and support investors to make investment decisions effectively.

15.
J Clin Pathol ; 76(12): 827-831, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36104171

RESUMEN

AIMS: Hb Akron (HBB:c.158A>T) is a rare ß-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia. METHODS: Haematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family. RESULTS: Hb Akron in various combinations with ß0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the ß0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or ß0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195-225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency. CONCLUSIONS: We have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.


Asunto(s)
Talasemia , Talasemia beta , Humanos , Talasemia beta/diagnóstico , Talasemia beta/genética , Pueblos del Este de Asia , Hemoglobinas , Heterocigoto , Mutación
16.
Front Endocrinol (Lausanne) ; 14: 1176063, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38523870

RESUMEN

Objective: To improve the accuracy of preimplantation genetic testing (PGT) in deletional α-thalassemia patients. Design: Article. Patients: fifty-two deletional α-thalassemia couples. Interventions: Whole genome amplification (WGA), Next-generation sequencing (NGS) and PCR mutation loci detection. Main outcome measures: WGA, Single nucleotide polymorphism (SNP) and PCR mutation loci detection results; Analysis of embryo chromosome copy number variation (CNV). Results: Multiple Displacement Amplification (MDA) and Multiple Annealing and Looping-Based Amplification Cycles (MALBAC) methods for PGT for deletional α-thalassemia. Blastocyst biopsy samples (n = 253) were obtained from 52 deletional α-thalassemia couples. The results of the comparison of experimental data between groups MALBAC and MDA are as follows: (i) The average allele drop-out (ADO) rate, MALBAC vs. MDA = 2.27% ± 3.57% vs. 0.97% ± 1.4%, P=0.451); (ii) WGA success rate, MALBAC vs. MDA = 98.61% vs. 98.89%, P=0.851; (iii) SNP haplotype success rate, MALBAC vs. MDA = 94.44% vs. 96.68%, P=0.409; (iv) The result of SNP haplotype analysis is consistent with that of Gap-PCR/Sanger sequencing results, MALBAC vs. MDA = 36(36/72, 50%) vs. 151(151/181, 83.43%), P=0; (v) Valid SNP loci, MALBAC vs. MDA = 30 ± 9 vs. 34 ± 10, P=0.02; (vi) The mean CV values, MALBAC vs. MDA = 0.12 ± 0.263 vs. 0.09 ± 0.40, P=0.916; (vii) The average number of raw reads, MALBAC vs. MDA =3244259 ± 999124 vs. 3713146 ± 1028721, P=0; (viii) The coverage of genome (%), MALBAC vs. MDA = 5.02 ± 1.09 vs. 5.55 ± 1.49, P=0.008. Conclusions: Our findings indicate that MDA is superior to MALBAC for PGT of deletional α-thalassemia. Furthermore, SNP haplotype analysis combined with PCR loci detection can improve the accuracy and detection rate of deletional α-thalassemia.


Asunto(s)
Diagnóstico Preimplantación , Talasemia alfa , Embarazo , Femenino , Humanos , Diagnóstico Preimplantación/métodos , Talasemia alfa/diagnóstico , Talasemia alfa/genética , Variaciones en el Número de Copia de ADN , Pruebas Genéticas/métodos , Alelos
17.
Commun Biol ; 5(1): 1327, 2022 12 03.
Artículo en Inglés | MEDLINE | ID: mdl-36463362

RESUMEN

As the time of ovulation draws near, mouse spermatozoa move out of the isthmic reservoir, which is a prerequisite for fertilization. However, the molecular mechanism remains unclear. The present study revealed that mouse cumulus cells of oocytes-cumulus complexes (OCCs) expressed transforming growth factor-ß ligand 1 (TGFB1), whereas ampullary epithelial cells expressed the TGF-ß receptors, TGFBR1 and TGFBR2, and all were upregulated by luteinizing hormone (LH)/human chorionic gonadotropin (hCG). OCCs and TGFB1 increased natriuretic peptide type C (NPPC) expression in cultured ampullae via TGF-ß signaling, and NPPC treatment promoted spermatozoa moving out of the isthmic reservoir of the preovulatory oviducts. Deletion of Tgfb1 in cumulus cells and Tgfbr2 in ampullary epithelial cells blocked OCC-induced NPPC expression and spermatozoa moving out of the isthmic reservoir, resulting in compromised fertilization and fertility. Oocyte-derived paracrine factors were required for promoting cumulus cell expression of TGFB1. Therefore, oocyte-dependent and cumulus cell-derived TGFB1 promotes the expression of NPPC in oviductal ampulla, which is critical for sperm migration in the oviduct and subsequent fertilization.


Asunto(s)
Péptido Natriurético Tipo-C , Oocitos , Oviductos , Ovulación , Transporte Espermático , Espermatozoides , Animales , Femenino , Masculino , Ratones , Oocitos/metabolismo , Oocitos/fisiología , Oviductos/metabolismo , Oviductos/fisiología , Receptor Tipo II de Factor de Crecimiento Transformador beta/genética , Receptor Tipo II de Factor de Crecimiento Transformador beta/metabolismo , Semen , Espermatozoides/metabolismo , Péptido Natriurético Tipo-C/genética , Péptido Natriurético Tipo-C/metabolismo , Ovulación/genética , Ovulación/metabolismo , Fertilización/genética , Fertilización/fisiología , Transporte Espermático/genética , Transporte Espermático/fisiología
18.
Anal Chim Acta ; 1198: 339561, 2022 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-35190137

RESUMEN

It is of great significance to realize the detection of trace amounts of superoxide anions (O2•-) in biological systems due to the connection between the concentration of O2•- and some diseases. Here, we present a novel method to fabricate a non-enzymatic electrochemical sensor for measuring O2•- from biological systems. The sensor was fabricated by nanocomposites (PAMAM-Au) synthesized by using (PAMAM-G4.0) dendrimers as template/stabilizers for gold nanoparticles (AuNPs) growth. Transmission electron microscopy (TEM) investigations indicate that AuNPs were encapsulated in PAMAM with average diameter about 8 nm. The electrochemical technique confirmed that PAMAM-Au possessed extraordinary electrochemical response to superoxide anions. As an analytical and sensing platform, apart from excellent sensitivity, wide liner range (from 3.69 × 10-5 - 37.2 µM), ultra-low detection limit (0.0123 nM), our sensor also presented satisfying performance for monitoring changes of O2•- levels upon different stimuli. Furthermore, we investigated the effect of temperature on superoxide anions released from living cells and enzyme activity through an electrochemical method for the first time. Most importantly, the simulated electrochemical study in vitro further confirmed that temperature has a crucial influence on both the ability of living cells to resist external stimulation and the antioxidant capacity of superoxide dismutase. As expected, the study may provide researchers with potential value for understanding the temperature effects on organisms and the treatment of diseases caused by oxidative stress.


Asunto(s)
Técnicas Biosensibles , Nanopartículas del Metal , Técnicas Biosensibles/métodos , Técnicas Electroquímicas/métodos , Oro/química , Nanopartículas del Metal/química , Superóxido Dismutasa , Superóxidos/química , Temperatura
19.
J Clin Ultrasound ; 50(2): 198-200, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34398457

RESUMEN

Interrupted aortic arch (IAA) is a rare complex congenital heart disease characterized by interrupted continuity between ascending aorta and descending aorta. Prenatal diagnosis of IAA by echocardiography is not uncommonly reported despite its rarity. However, employing four-dimensional ultrasound HD-flow imaging and spatiotemporal image correlation (STIC) in diagnosis of this condition has seldom been reported. We report a case of fetal IAA prenatally diagnosed by two-dimensional echocardiography and HD-flow STIC.


Asunto(s)
Ecocardiografía Tetradimensional , Cardiopatías Congénitas , Aorta Torácica/diagnóstico por imagen , Femenino , Corazón Fetal/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Embarazo , Diagnóstico Prenatal , Ultrasonografía Prenatal
20.
BMC Pregnancy Childbirth ; 21(1): 688, 2021 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-34627184

RESUMEN

BACKGROUND: Fetal growth velocity standards have yet to be established for the Chinese population. This study aimed to establish such standards suitable for the Chinese population. METHODS: We performed a multicenter, population-based longitudinal cohort study including 9075 low-risk singleton pregnant women. Data were collected from the clinical records of 24 hospitals in 18 provinces of China. Demographic characteristics, reproductive history, fetal ultrasound measurements, and perinatal outcome data were collected. The fetal ultrasound measurements included biparietal diameter (BPD), abdominal circumference (AC), head circumference (HC), and femur diaphysis length (FDL). We used linear mixed models with cubic splines to model the trajectory of four ultrasound parameters and estimate fetal weight. Fetal growth velocity was determined by calculating the first derivative of fetal size curves. We also used logistic regression to estimate the association between fetal growth velocities in the bottom 10th percentile and adverse perinatal outcomes. RESULTS: Fetal growth velocity was not consistent over time or among individuals. The estimated fetal weight (EFW) steadily increased beginning at 12 gestational weeks and peaked at 35 gestational weeks. The maximum velocity was 211.71 g/week, and there was a steady decrease in velocity from 35 to 40 gestational weeks. The four ultrasound measurements increased in the early second trimester; BPD and HC peaked at 13 gestational weeks, AC at 14 gestational weeks, and FDL at 15 gestational weeks. BPD and HC also increased from 19 to 24 and 19 to 21 gestational weeks, respectively. EFW velocity in the bottom 10th percentile indicated higher risks of neonatal complications (odds ratio [OR] = 2.23, 95% confidence interval [CI]: 1.79-2.78) and preterm birth < 37 weeks (OR = 3.68, 95% CI: 2.64-5.14). Sensitivity analyses showed that EFW velocity in the bottom 10th percentile was significantly associated with more adverse pregnancy outcomes for appropriate-for-gestational age neonates. CONCLUSIONS: We established fetal growth velocity curves for the Chinese population based on real-world clinical data. Our findings demonstrated that Chinese fetal growth patterns are somewhat different from those of other populations. Fetal growth velocity could provide more information to understand the risk of adverse perinatal outcomes, especially for appropriate-for-gestational age neonates.


Asunto(s)
Desarrollo Fetal , Adulto , Peso al Nacer , China , Estudios de Cohortes , Femenino , Retardo del Crecimiento Fetal , Peso Fetal , Feto , Edad Gestacional , Gráficos de Crecimiento , Humanos , Recién Nacido , Estudios Longitudinales , Embarazo , Resultado del Embarazo , Ultrasonografía Prenatal
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...