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This study aimed to assess within-match performance fluctuations in table tennis by utilising a dynamic performance indicator, a tailored version of a double moving average. This performance indicator applied to the sequence of wins and losses per rally, modelled a player's momentary point-winning probability or playing strength. Binomial distribution and Monte Carlo simulations were employed to obtain the expected distributions of double moving averages and their kurtosis. A total of two hundred and eleven single matches from the 2020 Tokyo Olympic Games were examined to characterise the extent of empirical fluctuations and to test for deviations from the expected fluctuations. Results showed that there were large within-match fluctuations (average IQR per match = 0.27). In addition, only one out of the two hundred and eleven matches exhibited a significant deviation from the stochastically expected double moving average distribution. This deviation was observed in the kurtosis of sixteen matches (7.6%). These findings underline the importance of considering within-match dynamic changes when conducting theoretical or practical performance analyses. This consideration should also extend to other performance indicators and various sports games.
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This study aimed to identify the role of chromothripsis as a novel biomarker in the prognosis and differentiation diagnosis of pancreatic neuroendocrine neoplasms (pNENs). We conducted next-generation gene sequencing in a cohort of 30 patients with high-grade (G3) pNENs. As a reference, a similar analysis was also performed on 25 patients with low-grade (G1/G2) pancreatic neuroendocrine tumors (pNETs). Chromothripsis and its relationship with clinicopathological features and prognosis were investigated. The results showed that DNA damage response and repair gene alteration and TP53 mutation were found in 29 and 11 patients, respectively. A total of 14 out of 55 patients had chromothripsis involving different chromosomes. Chromothripsis had a close relationship with TP53 alteration and higher grade. In the entire cohort, chromothripsis was associated with a higher risk of distant metastasis; both chromothripsis and metastasis (ENETS Stage IV) suggested a significantly shorter overall survival (OS). Importantly, in the high-grade pNENs group, chromothripsis was the only independent prognostic indicator significantly associated with a shorter OS, other than TP53 alteration or pathological pancreatic neuroendocrine carcinomas (pNECs) diagnosis. Chromothripsis can guide worse prognosis in pNENs, and help differentiate pNECs from high-grade (G3) pNETs.
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Conventional ex situ analytical methods for sediment pore water are susceptible to disruptions in the speciation equilibrium of metals due to changes in external conditions. This study introduced an innovative in situ method for detecting the three-dimensional distribution of labile copper (CuLabile) in sediment pore water with high spatial resolution using a highly stable microneedle electrochemical sensor. The sensor featured a nanoporous tip structure and embedded gold nanomaterials with excellent electrocatalytic performance. The nanoporous structure could prevent the nanomaterials from falling off because of friction during the in situ detection process in sediments. The sensor exhibited good detection performance under different salinity conditions with a detection limit of 0.2 nM. Vertical and three-dimensional distributions of CuLabile in sediment pore water were successfully obtained using the in situ microneedle sensor. The results showed that the concentration of CuLabile was in the range of 5.2-43.5 nM, with a maximum value at a depth of approximately 4 cm, while there was almost no difference in the horizontal direction of a specific sediment sample column. Furthermore, this functional sensor could be extended to the in situ detection of other labile metals in sediment pore water.
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BACKGROUND: Chromosome 18p deletion syndrome is caused by total or partial deletion of the short arm of chromosome 18 and associated with cognitive impairment, growth retardation and mild facial dysmorphism. However, most studies on the genotype-phenotype correlations in the 18p region are diagnosed postnatally. Prenatal reports involving 18p deletions are limited. METHODS: Three pregnant women opted for invasive prenatal testing due to noninvasive prenatal testing indicating high risk for chromosome 18 abnormalities. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed simultaneously. The pregnancy outcomes for all cases were followed up. Meanwhile, we also made a literature review on prenatal phenotypes of 18p deletions. RESULTS: G-banding analysis showed that 2 fetuses presented abnormal karyotypes: 45,XN,der(18)t(18;21)(p11; q11),-21 (case 2) and 46,XN,18p- (case 3). The karyotype of case 1 was normal. Meanwhile, CMA detected 4.37 Mb (case 1), 7.26 Mb (case 2) and 14.97 Mb (case 3) deletions in chromosome 18p region. All 3 pregnancies were terminated finally according to genetic counseling based upon abnormal CMA results. CONCLUSION: Prenatal diagnosis of 18p deletion syndrome is full of challenges due to the phenotypic diversity, incomplete penetrance and lack of prenatal phenotypes. Increased nuchal translucency and holoprosencephaly are common prenatal phenotypes of distal 18p deletion. For fetuses carrying 18p deletions with atypical sonographic phenotypes, noninvasive prenatal testing could be adopted as an effective approach.
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Deleción Cromosómica , Trastornos de los Cromosomas , Cromosomas Humanos Par 18 , Análisis por Micromatrices , Diagnóstico Prenatal , Humanos , Femenino , Cromosomas Humanos Par 18/genética , Embarazo , Análisis por Micromatrices/métodos , Diagnóstico Prenatal/métodos , Adulto , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Cariotipificación/métodosRESUMEN
BACKGROUND: Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities. However, the prenatal phenotypes associated with 16p11.2 copy number variations (CNVs) have not been well characterized. This study aimed to provide an elaborate summary of intrauterine phenotypic features for these genomic disorders. METHODS: Twenty prenatal amniotic fluid samples diagnosed with 16p11.2 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed in parallel. The pregnancy outcomes and health conditions of all cases after birth were followed up. Meanwhile, we made a pooled analysis of the prenatal phenotypes in the published cases carrying 16p11.2 CNVs. RESULTS: 20 fetuses (20/20,884, 0.10%) with 16p11.2 CNVs were identified: five had 16p11.2 BP2-BP3 deletions, 10 had 16p11.2 BP4-BP5 deletions and five had 16p11.2 BP4-BP5 duplications. Abnormal ultrasound findings were recorded in ten fetuses with 16p11.2 deletions, with various degrees of intrauterine phenotypic features observed. No ultrasound abnormalities were observed in any of the 16p11.2 duplications cases during the pregnancy period. Eleven cases with 16p11.2 deletions terminated their pregnancies. For 16p11.2 duplications, four cases gave birth to healthy neonates except for one case that was lost to follow-up. CONCLUSIONS: Diverse prenatal phenotypes, ranging from normal to abnormal, were observed in cases with 16p11.2 CNVs. For 16p11.2 BP4-BP5 deletions, abnormalities of the vertebral column or ribs and thickened nuchal translucency were the most common structural and non-structural abnormalities, respectively. 16p11.2 BP2-BP3 deletions might be closely associated with fetal growth restriction and single umbilical artery. No characteristic ultrasound findings for 16p11.2 duplications have been observed to date. Given the variable expressivity and incomplete penetrance of 16p11.2 CNVs, long-term follow-up after birth should be conducted for these cases.
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Trastornos de los Cromosomas , Duplicación Cromosómica , Cromosomas Humanos Par 16 , Feto , Fenotipo , Cromosomas Humanos Par 16/genética , Trastornos de los Cromosomas/genética , Trastornos de los Cromosomas/patología , Resultado del Embarazo/genética , Diagnóstico Prenatal , Feto/anomalías , Feto/diagnóstico por imagen , Ultrasonografía , Humanos , Embarazo , Recién Nacido , Cariotipificación , Estudios RetrospectivosRESUMEN
Hazardous heavy metals and organic substances removal is of great significance for ensuring the safety of aquatic-ecosystem, yet the highly effective and selective extraction always remains challenging. To address this problem, magnetic hollow microcubes were fabricated through thermal carbonization of Fe3O4-COOH@ γ-CD-MOFs, and core-shell structured precursors were in-situ greenly constructed on a large scale via microwave-assisted self-assembly strategy. As noted, the development of secondary crystallization was utilized to achieve uniform dispersion of cores within MOFs frameworks and thus improved magnetic and adsorption ability of composites. Acquired magnetic Fe3O4 @HC not only can harvest excellent extraction of heavy metals (Cd, Pb, and Cu of 129.87, 151.05, and 106.98 mg·g-1) but also exhibit highly selective adsorption ability for cationic organics (separation efficiency higher than 95.0 %). Impressively, Fe3O4 @HC achieved outstanding adsorption (60-80 %) of Cd in realistic mussel cooking broth with no obvious loss in amino acid. Characterizations better offer mechanistic insight into the enhanced selectivity of positively charged pollutants can be attributed to synergistic effect of ions exchange and electrostatic interaction of abundant oxygen-containing functional groups. Our study provides a feasible route by rationally developing core-shell structured composites to promote the practical applications of sustainable water treatment and value-added utilization of processing by-products.
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Objective: Genetic etiology plays a critical role in fetal ventriculomegaly (VM). However, the studies on chromosomal copy number variants (CNVs) in fetal VM are limited. This study aimed to investigate the chromosomal CNVs in fetuses with mild to moderate VM, and explore its genotype-phenotype correlation. Methods: A total of 242 fetuses with mild to moderate VM detected by prenatal ultrasound were enrolled in our study from October 2018 to October 2022. All cases underwent chromosomal microarray analysis (CMA) and G-banding simultaneously. All VM cases were classified different subgroups according to the maternal age, severity, VM distribution and presence/absence of other ultrasound abnormalities. The pregnancy outcomes and health conditions after birth were followed up. We also performed a pooled analysis regarding likely pathogenic and pathogenic CNVs (LP/P CNVs) for VM. Results: The detection rate of chromosomal abnormalities by karyotyping was 9.1% (22/242), whereas it was 16.5% (40/242) when CMA was conducted (P < 0.05). The total detection rate of chromosomal abnormalities by karyotyping and CMA was 21.1% (51/242). A 12.0% incremental yield of CMA over karyotyping was observed. The detection rate of total genetic variants in fetuses with bilateral VM was significantly higher than in fetuses with unilateral VM (30.0% vs. 16.7%, P = 0.017). No significant differences were discovered between isolated VM and non-isolated VM, or between mild and moderate VM, or between advanced maternal age (AMA) and non-AMA (all P > 0.05). 28 fetuses with VM were terminated and 214 fetuses were delivered: one presented developmental delay and one presented congenital heart disease. The VM cases with both positive CMA and karyotypic results had a higher rate of termination of pregnancy than those with either a positive CMA or karyotypic result, or both negative testing results (P < 0.001). Conclusion: The combination of CMA and karyotyping should be adopted to improve the positive detection rate of chromosomal abnormalities for VM. The total genetic abnormalities detected using both techniques would affect the final pregnancy outcomes. LP/P CNVs at 16p11.2, 17p13, and 22q11.21 were identified as the top three chromosomal hotspots associated with VM, which would enable genetic counselors to provide more precise genetic counseling for VM pregnancies.
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OBJECTIVE: Diminished ovarian reserve (DOR) has been a major challenge in infertility treatment. The present study aimed to compare the efficacy of progestin-primed ovarian stimulation (PPOS) regimen and antagonist regimen in infertile patients aged 35 years or older with DOR. METHODS: A retrospective study of 289 in vitro fertilization (IVF) cycles from April 2016 to June 2022 was performed. Propensity score matching (PSM) was used to balance the baseline characteristics between the two groups at a ratio of 1:1. RESULTS: After matching, there were 87 cycles in the PPOS group and 87 cycles in the antagonist group. The primary outcome measures included the incidence of premature LH surge, the number of retrieved oocytes, and the number of mature oocytes, which were comparable between the two groups (all P values >0.05). There were no significant differences in laboratory indicators and final clinical outcomes between the two groups (all P values >0.05). CONCLUSIONS: For DOR patients aged 35 years or older, the number of retrieved oocytes and the number of mature oocytes were comparable between the PPOS and antagonist groups. Moreover, the two regimens showed no difference in the inhibition of premature LH surge.
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OBJECTIVE: To carry out preimplantation genetic testing (PGT) for a Chinese pedigree affected with Rett syndrome (RTT). METHODS: A pedigree affected with RTT who had presented at the First Hospital of Jilin University on June 4, 2021 was selected as the study subject. Variant of the MECP2 gene was analyzed by next generation sequencing (NGS) and Sanger sequencing. Direct sequencing was also used to determine the carrier status for the c.925C>T variant of the MECP2 gene in the blastocysts, and Sanger sequencing was used to validate the results. The MECP2 gene and 168 effective single nucleotide polymorphism (SNP) loci within 2 Mb ranges up- and downstream of the gene were used to construct a haplotype for analyzing the variant site in the embryos, and embryos without the variant were subjected to the analysis for chromosomal aneuploidies. RESULTS: PGT analysis revealed that five out of seven blastocysts did not harbor the pathogenic variant. The results of aneuploidy analysis indicated that two out of five blastocysts without the variant were euploid. Following genetic counselling, the couple had opted to transplant the optimal blastocyst. Following clinical pregnancy, prenatal diagnosis showed that the fetus has a normal chromosomal karyotype, and the c.925C>T variant was not detected in the amniotic fluid sample. A healthy girl was born by Cesarean section at full term. CONCLUSION: NGS can attain efficient PGT detection and reduce the risk of disease recurrence in families affected with RTT.
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Pruebas Genéticas , Linaje , Diagnóstico Preimplantación , Síndrome de Rett , Adulto , Femenino , Humanos , Embarazo , Pueblos del Este de Asia/genética , Pruebas Genéticas/métodos , Secuenciación de Nucleótidos de Alto Rendimiento , Proteína 2 de Unión a Metil-CpG/genética , Polimorfismo de Nucleótido Simple , Síndrome de Rett/genéticaRESUMEN
Round spermatids, characterized by their haploid genetic content, represent the precursor cells to mature spermatozoa. Through the innovative technique of round spermatid injection (ROSI), oocytes can be successfully fertilized and developed into viable fetuses. In a groundbreaking milestone achieved in 1995, the first mouse fetus was born through ROSI technology. ROSI has since emerged as a pivotal tool for unraveling the intricate mechanisms governing embryonic development and holds significant potential in various applications, including the acceleration of mouse generation and the production of genetically modified mice. In 1996, a milestone was reached when the first human fetus was born through ROSI technology. However, the clinical applications of this method have shown a fluctuating pattern of success and failure. To date, ROSI technology has not found widespread application in clinical practice, primarily due to its low birth efficiency and insufficient validation of fetal safety. This article provides a comprehensive account of the precise methods of performing ROSI in mice, aiming to shed new light on basic research and its potential clinical applications.
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Inyecciones de Esperma Intracitoplasmáticas , Espermátides , Embarazo , Masculino , Femenino , Ratones , Animales , Humanos , Inyecciones de Esperma Intracitoplasmáticas/métodos , Espermatozoides , Oocitos , Desarrollo EmbrionarioRESUMEN
Automatic fall detection plays a significant role in monitoring the health of senior citizens. In particular, millimeter-wave radar sensors are relevant for human pose recognition in an indoor environment due to their advantages of privacy protection, low hardware cost, and wide range of working conditions. However, low-quality point clouds from 4D radar diminish the reliability of fall detection. To improve the detection accuracy, conventional methods utilize more costly hardware. In this study, we propose a model that can provide high-quality three-dimensional point cloud images of the human body at a low cost. To improve the accuracy and effectiveness of fall detection, a system that extracts distribution features through small radar antenna arrays is developed. The proposed system achieved 99.1% and 98.9% accuracy on test datasets pertaining to new subjects and new environments, respectively.
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Lithium-carbon dioxide (Li-CO2 ) battery technology presents a promising opportunity for carbon capture and energy storage. Despite tremendous efforts in Li-CO2 batteries, the complex electrode/electrolyte/CO2 triple-phase interfacial processes remain poorly understood, in particular at the nanoscale. Here, using in situ atomic force microscopy and laser confocal microscopy-differential interference contrast microscopy, we directly observed the CO2 conversion processes in Li-CO2 batteries at the nanoscale, and further revealed a laser-tuned reaction pathway based on the real-time observations. During discharge, a bi-component composite, Li2 CO3 /C, deposits as micron-sized clusters through a 3D progressive growth model, followed by a 3D decomposition pathway during the subsequent recharge. When the cell operates under laser (λ=405â nm) irradiation, densely packed Li2 CO3 /C flakes deposit rapidly during discharge. Upon the recharge, they predominantly decompose at the interfaces of the flake and electrode, detaching themselves from the electrode and causing irreversible capacity degradation. In situ Raman shows that the laser promotes the formation of poorly soluble intermediates, Li2 C2 O4 , which in turn affects growth/decomposition pathways of Li2 CO3 /C and the cell performance. Our findings provide mechanistic insights into interfacial evolution in Li-CO2 batteries and the laser-tuned CO2 conversion reactions, which can inspire strategies of monitoring and controlling the multistep and multiphase interfacial reactions in advanced electrochemical devices.
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In the process of spermatogenesis and maturation, histones of the sperm nucleus were gradually replaced by protamine. Abnormal sperm nucleoprotein histotype conversion can make sperm DNA unstable and affect sperm function. The aim of this study is to investigate the impact of high and low proportion of sperm histone positivity in semen sample on embryonic development and assisted reproductive technology results, and to evaluate its diagnostic value in assisted reproduction. Sperm nuclear status was detected with aniline blue staining. Under acidic conditions, aniline blue combines with histones rich in lysine residues to form blue compounds. The groups were divided according to the critical value of sperm histone positive ratio of 30%. Using the intracytoplasmic sperm injection procedure, the fertilization rate and normal fertilization rate in the normal sperm histone positive ratio group were significantly higher than those in the abnormal group, and the difference was statistically significant (Pâ <â .001). Using the in vitro fertilization procedure, the effect of sperm histone positive ratio on each index was not statistically different. Overall the study provides some preliminary evidence that abnormal sperm histones may be a factor that affects the fertilization success of intracytoplasmic sperm injection procedures. However, more research is needed to confirm this finding to determine the exact mechanism by which abnormal sperm histones affect fertilization.
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Cromatina , Histonas , Embarazo , Femenino , Humanos , Masculino , Semen , Espermatozoides , Fertilización In Vitro/métodos , Desarrollo EmbrionarioRESUMEN
An electrochemical sensing approach for ultrasensitive DNA methyltransferase (MTase) activity assay is proposed. After specific cleavage reaction in the presence of a methylated state, strand displacement polymerization (SDP) is initiated in the solution. The product of upstream SDP further triggers downstream SDP, which enriches abundant electrochemical species at the electrode. The whole process is quite convenient with shared enzymes. Due to the cascade signal amplification, ultrahigh sensitivity is promised. Inhibitor screening results are also demonstrated to be good. Besides, target MTase can be accurately determined in human serum samples, confirming excellent practical utility. This work provides a reliable approach for the analysis of MTase activity, which is of vital importance for related biological studies and clinical applications.
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Técnicas Biosensibles , Humanos , Técnicas Biosensibles/métodos , Metiltransferasas/genética , Metilación de ADN , ADN/genética , Técnicas ElectroquímicasRESUMEN
Objective: Chromosomal 1q21.1 deletions and duplications are genomic disorders that are usually diagnosed postnatally. However, the genotype-phenotype correlations of 1q21.1 copy number variants (CNVs) during the prenatal period are still not clear. This study aimed to provide a systematic summary of prenatal phenotypes for such genomic disorders. Methods: In total, 26 prenatal amniotic fluid samples diagnosed with 1q21.1 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed for all cases simultaneously. The pregnancy outcomes and health conditions after birth in all cases were followed up. Meanwhile, prenatal cases with 1q21.1 microdeletions or microduplications in the literature were retrospectively collected. Results: In total, 11 pregnancies (11/8,252, 0.13%) with 1q21.1 microdeletions and 15 (15/8,252, 0.18%) with 1q21.1 microduplications were identified. Among these 1q21.1 CNVs, 4 cases covered the thrombocytopenia-absent radius (TAR) region, 16 cases covered the 1q21.1 recurrent microdeletion/microduplication region, and 6 cases covered all regions mentioned above. The prenatal abnormal ultrasound findings were recorded in four participants with 1q21.1 deletions and seven participants with 1q21.1 duplications. Finally, three cases with 1q21.1 deletions and five with 1q21.1 duplications terminated their pregnancies. Conclusion: In the prenatal setting, 1q21.1 microdeletions were associated with increased nuchal translucency (NT), anomalies of the urinary system, and cardiovascular abnormalities, while 1q21.1 microduplications were correlated with cardiovascular malformations, nasal bone dysplasia, and increased NT. In addition, cerebral ventriculomegaly might be correlated with 1q21.1 microduplications. Considering the variable expressivity and incomplete penetrance of 1q21.1 CNVs, long-term follow-up after birth should be carried out in these cases.
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Constructed wetlands (CWs) were responsible for the in-depth purification of wastewater, providing an ideal environment for the transport, acquisition, and dissemination of antibiotic resistance genes (ARGs). A better understanding of influencing factors and risks of ARGs in CWs was deemed indispensable. In this research, the abundance of ARGs and mobile genetic elements (MGEs) was determined to be higher in summer and spring, ranging from 53.7 to 8.51 × 106 and 30.9-6.02 × 106 copies/mL, respectively. Seasonal variation significantly influenced the abundance of ARGs and MGEs, as well as the co-occurrence patterns among ARGs, MGEs and bacteria. However, the environmental gradients, from the influent (CW01) to the effluent (CW10), did not impose significant effects on the abundance of ARGs and MGEs. Furthermore, the ratios of pathogenic bacteria to ARG hosts and ARG risks index decreased by 50.4% and 88.54% along with the environmental gradients, indicating that CWs could act as barriers to the transfer of ARGs. Partial least squares-path modeling (PLSPM) revealed that temperature was the main driving factor of ARGs, followed by MGEs, stable and differential bacteria. This finding effectively and innovatively explored the driving indicators for the variations and risks of ARGs caused by spatial-temporal variations, providing new insights into the evaluation and control of ARGs in CWs.
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Antibacterianos , Humedales , Medición de Riesgo , Antibacterianos/farmacología , Farmacorresistencia Microbiana/genética , Estaciones del AñoRESUMEN
OBJECTIVE: This study aimed to compare the effects of two brands of commercial vitrification carriers on pregnancy outcomes in freeze-thaw cycles. METHODS: We included 4871 patients who underwent a "freeze all" strategy using the commercial carriers J.Y. straw and OYASHIPS straw in the Reproductive Center of the First Hospital of Jilin University. The pregnancy outcomes of cleavage-stage embryos and blastocysts were studied separately. Detailed data and the safety of children born from mothers with the two types of carriers were also compared. RESULTS: Patients who used J.Y. straw had similar clinical pregnancy and live birth rates with one and two cleavage-stage embryo transplantation to those who used OYASHIPS straw. In patients who had blastocyst transplantation, the clinical pregnancy rate of one blastocyst transplanted in those who used OYASHIPS straw was significantly higher than that in those who used J.Y. straw (57.85% vs 47.09%). Among children born from mothers who used J.Y. straw, the congenital disability rate was significantly higher than that in those with OYASHIPS straw. CONCLUSION: The OYASHIPS straw carrier is cheap and can achieve clinical pregnancy and live birth outcomes comparable to those of J.Y. straw. Therefore, OYASHIPS straw is a good alternative option.
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Criopreservación , Resultado del Embarazo , Vitrificación , Niño , Femenino , Humanos , Embarazo , Blastocisto , Transferencia de Embrión , Índice de Embarazo , Estudios RetrospectivosRESUMEN
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the Gene Expression Omnibus (GEO) and ArrayExpress databases to determine the differentially expressed genes (DEGs). In addition, functional enrichment analysis including the Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) was performed. Protein-protein interaction (PPI) networks, modules, and miRNA-mRNA regulatory networks were constructed and analyzed and the validation of hub genes was performed. A total of 601 shared DEGs were identified, including 416 down-regulated and 185 up-regulated genes. The findings of the enrichment analysis indicated that the shared DEGs were mostly enriched in sexual reproduction, reproductive process, male gamete generation, immune response, and immunity-related pathways. In addition, six hub genes (CCNA2, CCNB2, TOP2A, CDC20, BUB1, and BUB1B) were selected from the PPI network by using the cytoHubba and MCODE plug-ins. The expression levels of the hub genes were significantly decreased in patients with SCOS compared to that in normal spermatogenesis controls as indicated by the microarray data, single-cell transcriptomic data, and clinical sample levels. Furthermore, the potential miRNAs were predicted via the miRNA-mRNA network construction. These hub genes and miRNAs can be used as potential biomarkers that may be related to SCOS. However, it has not been proven that the differential expression of these biomarkers is the molecular pathogenesis mechanisms of SCOS. Our findings suggest that these biomarkers can be serve as clinical tool for diagnosis targets and may have some impact on the spermatogenesis of SCOS from a testicular germ cell perspective.
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MicroARNs , Síndrome de Sólo Células de Sertoli , Humanos , Masculino , Síndrome de Sólo Células de Sertoli/genética , Redes Reguladoras de Genes , Perfilación de la Expresión Génica , MicroARNs/genética , MicroARNs/metabolismo , Biomarcadores de Tumor/genética , Biología Computacional , ARN Mensajero/genética , Regulación Neoplásica de la Expresión GénicaRESUMEN
BACKGROUND: The aim of this study was to develop a nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization (IVF) cycles. METHODS: A retrospective study of 4266 live birth cycles collected from January 2016 to October 2021 at the Center for Reproductive Medicine, First Hospital of Jilin University was performed. The sample size was sufficient based on the minimal ten events per variable (EPV) rule. The primary outcome of this study was preterm birth. The cycles were divided into the preterm birth group (n = 827) and the full-term delivery group (n = 3439). A nomogram was established based on the multivariate logistic regression analysis results. The area under the curve (AUC) was calculated to assess the prediction accuracy of the nomogram model. The calibration curve was used to measure the calibration of the nomogram. RESULTS: Multivariate logistic regression analyses showed that female obesity or overweight (OR = 1.366, 95% CI: 1.111-1.679; OR = 1.537, 95% CI: 1.030-2.292), antral follicle count (AFC) of more than 24 (OR = 1.378, 95% CI: 1.035-1.836), multiple pregnancies (OR = 6.748, 95% CI: 5.559-8.190), gestational hypertension (OR = 9.662, 95% CI: 6.632-14.078) and gestational diabetes (OR = 4.650, 95% CI: 2.289-9.445) were the independent risk factors for preterm birth in IVF patients. The area under curve (AUC) under the receiver operating characteristic (ROC) curve in the prediction model was 0.781(95%CI: 0.763-0.799). The calibration curve of the nomogram showed that the prediction model had a good calibration. CONCLUSIONS: We used five risk factors to conduct a nomogram to predict preterm birth rates for patients undergoing IVF cycles. This nomogram can provide a visual assessment of the risk of preterm birth for clinical consultation.
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Nacimiento Prematuro , Embarazo , Humanos , Femenino , Recién Nacido , Nacimiento Prematuro/epidemiología , Nacimiento Prematuro/etiología , Estudios Retrospectivos , Nomogramas , Fertilización In Vitro/métodos , Factores de RiesgoRESUMEN
Round spermatid injection (ROSI), one of the assistant reproductive technologies, was used to treat partial infertility patients suffering from non-obstructive azoospermia. However, the development efficiency and birth rate of ROSI embryos are extremely low, and it is urgent to investigate the underlying mechanisms of low efficiency to improve the clinical application of ROSI technology. Here, we analyzed and compared the genome stability of the mouse blastocyst and the post-implantation development between ROSI and ICSI embryos. We first sequenced the genome of blastocysts from mouse ROSI embryos that can correctly form male and female pronuclei (2 PN) and found that the genomes of 7 blastocysts were normal. Furthermore, the implantation rate of ROSI 2 PN embryos on embryonic day 7.5 is similar to that of ICSI embryos, and at this time, 37.50% (9/24) of deciduas have no normal gestational sac. The proportion of embryos that survived to embryonic day 11.5 in the ROSI 2 PN group, ROSI non-2 PN group, parthenogenesis group, and ICSI 2 PN group was 51.61%, 7.14%, 0.00%, and 55.00%, respectively. And two smaller fetuses were found in the ROSI 2 PN group, which is not found in the other three groups. In addition, the physiological indexes, including fetus and placenta weight, sex ratio, growth rate, and the natural breeding ability for the offspring obtained from mouse ROSI, were evaluated; ROSI mice exhibited no obvious defect or abnormality and implied that the progeny were safe. Our results provided new evidence to promote the clinical application of ROSI technology.