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1.
Sci Rep ; 14(1): 6046, 2024 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-38472299

RESUMEN

In the process of developing tight oil and gas reservoirs, multistage fractured horizontal wells (NFHWs) can greatly increase the production rate, and the optimal design of its fracturing parameters is also an important means to further increase the production rate. Accurate production prediction is essential for the formulation of effective development strategies and development plans before and during project execution. In this study, a novel workflow incorporating machine learning (ML) and particle swarm optimization algorithms (PSO) is proposed to predict the production rate of multi-stage fractured horizontal wells in tight reservoirs and optimize the fracturing parameters. The researchers conducted 10,000 numerical simulation experiments to build a complete training and validation dataset, based on which five machine learning production prediction models were developed. As input variables for yield prediction, eight key factors affecting yield were selected. The results of the study show that among the five models, the random forest (RF) model best establishes the mapping relationship between feature variables and yield. After verifying the validity of the Random Forest-based yield prediction model, the researchers combined it with the particle swarm optimization algorithm to determine the optimal combination of fracturing parameters under the condition of maximizing the net present value. A hybrid model, called ML-PSO, is proposed to overcome the limitations of current production forecasting studies, which are difficult to maximize economic returns and optimize the fracturing scheme based on operator preferences (e.g., target NPV). The designed workflow can not only accurately and efficiently predict the production of multi-stage fractured horizontal wells in real-time, but also be used as a parameter selection tool to optimize the fracture design. This study promotes data-driven decision-making for oil and gas development, and its tight reservoir production forecasts provide the basis for accurate forecasting models for the oil and gas industry.

3.
Bioresour Technol ; 393: 130129, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38040314

RESUMEN

To solve the shortage of inoculum, the feasibility of establishing simultaneous partial nitrification, anammox, and denitrification (SNAD) reactor through inoculating nitrification-denitrification sludge, anammox biofilm and blank carriers was investigated. Advanced nitrogen removal efficiency of 91.2 ± 3.6 % was achieved. Bacteria related to nitrogen removal and fermentation were enriched in anammox biofilm, blank carriers and flocs, and the abundance of dominant anaerobic ammonia oxidizing bacteria (AnAOB), Candidatus Brocadia, reached 3.4 %, 0.5 % and 0.3 %, respectively. Candidatus Competibacter and Calorithrix became the dominant denitrifying bacteria (DNB) and fermentative bacteria (FB), respectively. The SNAD system was successfully established, and new mature biofilms formed in blank carriers, which could provide inoculum for other anammox processes. Partial nitrification, partial denitrification and aerobic_chemoheterotrophy were existed and facilitated AnAOB enrichment. Microbial correlation networks revealed the cooperation between DNB, FB and AnAOB that promoted nitrogen removal. Overall, the SNAD process was started up through inoculating more accessible inoculum.


Asunto(s)
Desnitrificación , Nitrificación , Oxidación Anaeróbica del Amoníaco , Reactores Biológicos/microbiología , Aguas del Alcantarillado/microbiología , Bacterias/genética , Biopelículas , Nitrógeno , Oxidación-Reducción
4.
Front Plant Sci ; 14: 1294033, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38034573

RESUMEN

Lotus (Nelumbo nucifera Gaertn.), an important aquatic plant in horticulture and ecosystems, has been cultivated for more than 7000 years and domesticated into three different subgroups: flower lotus, rhizome lotus, and seed lotus. To explore the domesticated regions of each subgroup, re-sequencing data of 371 lotus accessions collected from the public database were aligned to the genome of 'China-Antique (CA)'. Unmapped reads were used to build the dispensable genome of each subgroup using a metagenome-like assembly strategy. More than 27 Mb of the dispensable genome in these three subgroups and the wild group was assembled, of which 11,761 genes were annotated. Some of the contigs in the dispensable genome were similar to the genomic segments of other lotus accessions other than 'CA'. The annotated genes in each subgroup played essential roles in specific developmental processes. Dissection of selective signals in three cultivated subgroups also demonstrated that subgroup-specific metabolic pathways, such as the brassinosteroids metabolism enrichment in FL, associated with these selected genes in each subgroup and the contigs in dispensable genome nearly located in the domesticated regions of each subgroup, respectively. Our data presented a valuable resource for facilitating lotus genomic studies, complemented the helpful information to the reference genome, and shed light on the selective signals of domesticated subgroups.

5.
Plants (Basel) ; 12(14)2023 Jul 20.
Artículo en Inglés | MEDLINE | ID: mdl-37514314

RESUMEN

Seed germination is an important stage of growth and reproduction and plays an important role in the life cycle of spermatophyte. It is co-determined by both genetic and environmental factors, and plant hormone regulation may be a highly conservative mechanism. Coix lachryrma-jobi (coix) is a grain with balanced nutrition for medicine and food and has substantial production value. It is an important part of agricultural production, and the efficiency of seed germination after sowing is a key link. In this study, coix species "small white shell Xingren" was used as the experimental material, and changes in gene expression levels and metabolite enrichment in seeds were identified by transcriptome and metabonomic analysis before and after seed germination. A total of 599 metabolites, including those from amino acid metabolism, sugar metabolism, and fatty acid metabolism, were significantly increased in germinating coix. Simultaneously, 10,929 differentially expressed genes (DEGs) were identified, and functional clusters of genes were also significantly clustered in hormone-signaling and glucose and fatty acid metabolism. In addition, this study found that a considerable number of hormone-signaling genes were significantly up-regulated during seed germination, activating multiple metabolic processes. The results of our conjoint analysis of multi omics showed that glucose and fatty acid metabolism played an important role in seed germination under hormone regulation.

6.
Genes (Basel) ; 14(7)2023 07 18.
Artículo en Inglés | MEDLINE | ID: mdl-37510366

RESUMEN

Fagopylum tatarium (L.) Gaertn (buckwheat) can be used both as medicine and food and is also an important food crop in barren areas and has great economic value. Exploring the molecular mechanisms of the response to cadmium (Cd) stress can provide the theoretical reference for improving the buckwheat yield and quality. In this study, perennial tartary buckwheat DK19 was used as the experimental material, its key metabolic pathways in the response to Cd stress were identified and verified through transcriptomic and metabolomic data analysis. In this investigation, 1798 metabolites were identified through non-targeted metabolomic analysis containing 1091 up-regulated and 984down-regulated metabolites after treatment. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis of differential metabolites was significantly enriched in galactose metabolism, glycerol metabolism, phenylpropane biosynthesis, glutathione metabolism, starch and sucrose metabolism. Linkage analysis detected 11 differentially expressed genes (DEGs) in the galactose metabolism pathway, 8 candidate DEGs in the lipid metabolism pathway, and 20 candidate DEGs in the glutathione metabolism pathway. The results of our study provided useful clues for genetically improving the resistance to cadmium by analyzing the molecular mechanism of cadmium tolerance in buckwheat.


Asunto(s)
Cadmio , Fagopyrum , Cadmio/toxicidad , Cadmio/metabolismo , Fagopyrum/genética , Galactosa/metabolismo , Multiómica , Nutrientes , Glutatión/metabolismo
7.
Front Plant Sci ; 14: 1189743, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37484471

RESUMEN

Introduction: Multiple nodes and dwarf mutants in barley are a valuable resource for identifying genes that control shoot branching, vegetative growth and development. Methods: In this study, physiological, microscopic and genetic analysis were conducted to characterize and fine-map the underling gene of a barley mutant with Multiple Stem Nodes and Spikes and Dwarf (msnsd), which was selected from EMS- and 60Co-treated barley cv. Edamai 934. Results and discussion: The msnsd mutant had more stem nodes, lower plant height and a shorter plastochron than Edamai 934. Moreover, the mutant had two or more spikes on each tiller. Microscopic analysis showed that the dwarf phenotype of msnsd resulted from reduced cell lengths and cell numbers in the stem. Further physiological analysis showed that msnsd was GA3-deficient, with its plant height increasing after external GA3 application. Genetic analysis revealed that a single recessive nuclear gene, namely, HvMSNSD, controlled the msnsd phenotype. Using a segregating population derived from Harrington and the msnsd mutant, HvMSNSD was fine-mapped on chromosome 5H in a 200 kb interval using bulked segregant analysis (BSA) coupled with RNA-sequencing (BSR-seq), with a C-T substitution in the exon of HvTCP25 co-segregating with the msnsd phenotype. RNA-seq analysis showed that a gene encoding gibberellin 2-oxidase 8, a negative regulator of GA biosynthesis, was upregulated in the msnsd mutant. Several known genes related to inflorescence development that were also upregulated and enriched in the msnsd mutant. Collectively, we propose that HvMSNSD regulates the plastochron and morphology of reproductive organs, likely by coordinating GA homeostasis and changed expression of floral development related genes in barley. This study offers valuable insights into the molecular regulation of barley plant architecture and inflorescence development.

8.
Water Environ Res ; 95(6): e10878, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37177840

RESUMEN

Nitrite oxidizing bacteria (NOB) is easy to accumulate in the mainstream anammox process, leading to the decrease of anammox bacterial abundance and deterioration of nitrogen removal. In this study, anammox bacteria was gradually enriched by increasing nitrite production rate under intermittent aeration despite high NOB abundance. With the DO increased from 0.4 to 0.6 mg/L, Nitrosomonas increased from 0.14% to 0.22%, providing more nitrite for anammox bacteria and promoting its enrichment (grew by 77.4%). Adding extra nitrite of 7.14 mg N/(L·h) during the aeration phase to reactor could further increase anammox bacterial abundance by 117.6%, which was higher than the control reactor (40.2%). In contrast, NOB abundance decreased from 1.4 × 1010 to 1.2 × 1010 copies/L. The results suggested that anammox bacteria had a competitive advantage for nitrite over NOB with increasing nitrite production rate. In addition, Thauera and Dechloromonas, which were responsible for reducing nitrate to nitrite, provided additional substrates for anammox bacteria. Overall, this research provides a new idea for mainstream anammox applications. PRACTITIONER POINTS: Inhibiting NOB might be no longer necessary and difficult for mainstream anammox. Anammox bacteria competed for more nitrite with NOB when nitrite production rate increased. Increasing DO from 0.4 to 0.6 mg/L facilitated anammox bacterial growth and nitrogen removal.


Asunto(s)
Compuestos de Amonio , Nitritos , Oxidación Anaeróbica del Amoníaco , Reactores Biológicos/microbiología , Oxidación-Reducción , Bacterias , Nitrógeno , Aguas del Alcantarillado/microbiología
9.
Theor Appl Genet ; 136(1): 7, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36656367

RESUMEN

KEY MESSAGE: Map-based cloning, subcellular localization, virus-induced-gene-silencing and transcriptomic analysis reveal HvTUB8 as a candidate gene with pleiotropic effects on barley spike and leaf development via ethylene and chlorophyll metabolism. Barley lateral spikelet morphology and grain shape play key roles in grain physical quality and yield. Several genes and QTLs for these traits have been cloned or fine mapped previously. Here, we report the phenotypic and genotypic analysis of a barley mutant with round lateral spikelet (rls) from cv. Edamai 934. rls had round lateral spikelet, short but round grain, shortened awn, thick glume and dark green leaves. Histocytologic and ultrastructural analysis revealed that the difference of grain shape of rls was caused by change of cell arrangement in glume, and the dark leaf color resulted from enlarged chloroplast. HvTUBULIN8 (HvTUB8) was identified as the candidate gene for rls by combination of RNA-Seq, map-based-cloning, virus-induced-gene-silencing (VIGS) and protein subcellular location. A single G-A substitution at the third exon of HvTUB8 resulted in change of Cysteine 354 to tyrosine. Furthermore, the mutant isoform Hvtub8 could be detected in both nucleus and cytoplasm, whereas the wild-type protein was only in cytoplasm and granular organelles of wheat protoplasts. Being consistent with the rare phenotype, the "A" allele of HvTUB8 was only detected in rls, but not in a worldwide barley germplasm panel with 400 accessions. VIGS confirmed that HvTUB8 was essential to maintain spike integrity. RNA-Seq results suggested that HvTUB8 may control spike morphogenesis via ethylene homeostasis and signaling, and control leaf color through chlorophyll metabolism. Collectively, our results support HvTUB8 as a candidate gene for barley spike and leaf morphology and provide insight of a novel mechanism of it in barley development.


Asunto(s)
Hordeum , Sitios de Carácter Cuantitativo , Fenotipo , Grano Comestible/genética , Clonación Molecular , Clorofila
10.
Bioresour Technol ; 369: 128484, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36513309

RESUMEN

This study verified the feasibility of simultaneous partial nitrification, anammox, denitrification and fermentation process under intermittent aeration in a single reactor, and explored the impact of dissolved oxygen (DO) on the synergy between fermentation and nitrogen removal. An advanced nitrogen removal efficiency of 92.8 % and a low observed sludge yield of 0.0268-0.1474 kgMLSS/kgCOD were achieved. In-situ test showed that nitrate and ammonium decreased synchronously in the absence of organic matter, indicating the possibility of simultaneous partial denitrification, anammox and fermentation. Additionally, the abundance of functional genes for acetate production was 66,894 hits, while the key genes relevant to methanogenesis were only 348 hits, which suggested that fermentation might stop at the acid-producing stage and promote partial denitrification-anammox reaction, achieving simultaneous sludge reduction and advanced nitrogen removal performance. When DO increased from 0.1-0.3 to 0.4-0.6 mg/L, the nitrogen removal efficiency was increased (63.9 %→92.8 %) while sludge reduction was negatively affected.


Asunto(s)
Nitrificación , Aguas del Alcantarillado , Fermentación , Desnitrificación , Aguas Residuales , Nitrógeno , Oxidación Anaeróbica del Amoníaco , Reactores Biológicos , Oxidación-Reducción , Oxígeno
11.
BMC Pediatr ; 22(1): 588, 2022 10 11.
Artículo en Inglés | MEDLINE | ID: mdl-36221079

RESUMEN

BACKGROUND: Ligase IV (LIG4) dificiency is a very rare clinical syndrome with around 50 cases reported to date. This syndrome is caused by biallelic pathogenic variants in the LIG4 gene, which cause DNA damage repair disorders, mainly manifesting as severe immunodeficiency. CASE PRESENTATION: We report the case of a 15-month-old male child with pancytopenia, growth retardation, microcephaly, history of vaccine-related rubella, elevated immunoglobulin G, and decreased T- and B lymphocytes. Next-generation sequencing revealed LIG4 pathogenic genes and compound heterozygous mutations, namely the missense mutation c.833G > T (p.Arg278Leu) and deletion mutation c.1271_1275del (p.Lys424Argfs*20). CONCLUSION: This case suggests that LIG4 dificiency can manifest not only as immunodeficiency but also with increased serum IgG levels and pancytopenia, which constitutes an additional clinical phenotype. Furthermore, this case suggests that LIG4 deficiency should be considered upon differential diagnosis of myelodysplastic syndrome in children.


Asunto(s)
Síndromes de Inmunodeficiencia , Síndromes Mielodisplásicos , Pancitopenia , Vacunas , ADN Ligasa (ATP)/genética , ADN Ligasas/genética , Humanos , Inmunoglobulina G , Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/genética , Masculino , Mutación , Síndromes Mielodisplásicos/diagnóstico , Síndromes Mielodisplásicos/genética , Pancitopenia/etiología
12.
Genes (Basel) ; 13(9)2022 08 26.
Artículo en Inglés | MEDLINE | ID: mdl-36140710

RESUMEN

Maize is one of the most important food crops, and maize kernel is one of the important components of maize yield. Studies have shown that the rice grain-size affecting gene GS5 increases the thousand-kernel weight by positively regulating the rice grain width and grain grouting rate. In this study, based on the GS5 transgenic maize obtained through transgenic technology with specific expression in the endosperm, molecular assays were performed on the transformed plants. Southern blotting results showed that the GS5 gene was integrated into the maize genome in a low copy number, and RT-PCR analysis showed that the exogenous GS5 gene was normally and highly expressed in maize. The agronomic traits of two successive generations showed that certain lines were significantly improved in yield-related traits, and the most significant changes were observed in the OE-34 line, where the kernel width increased significantly by 8.99% and 10.96%, the 100-kernel weight increased by 14.10% and 10.82%, and the ear weight increased by 13.96% and 15.71%, respectively; however, no significant differences were observed in the plant height, ear height, kernel length, kernel row number, or kernel number. In addition, the overexpression of the GS5 gene increased the grain grouting rate and affected starch synthesis in the rice grains. The kernels' starch content in OE-25, OE-34, and OE-57 increased by 10.30%, 7.39%, and 6.39%, respectively. Scanning electron microscopy was performed to observe changes in the starch granule size, and the starch granule diameter of the transgenic line(s) was significantly reduced. RT-PCR was performed to detect the expression levels of related genes in starch synthesis, and the expression of these genes was generally upregulated. It was speculated that the exogenous GS5 gene changed the size of the starch granules by regulating the expression of related genes in the starch synthesis pathway, thus increasing the starch content. The trans-GS5 gene was able to be stably expressed in the hybrids with the genetic backgrounds of the four materials, with significant increases in the kernel width, 100-kernel weight, and ear weight. In this study, the maize kernel size was significantly increased through the endosperm-specific expression of the rice GS5 gene, and good material for the functional analysis of the GS5 gene was created, which was of great importance in theory and application.


Asunto(s)
Endospermo , Oryza , Expresión Génica Ectópica , Grano Comestible/genética , Grano Comestible/metabolismo , Endospermo/genética , Endospermo/metabolismo , Regulación de la Expresión Génica de las Plantas , Oryza/genética , Oryza/metabolismo , Plantas Modificadas Genéticamente/genética , Plantas Modificadas Genéticamente/metabolismo , Almidón/genética , Almidón/metabolismo , Zea mays/genética , Zea mays/metabolismo
13.
Zhonghua Nan Ke Xue ; 27(3): 231-235, 2021 Mar.
Artículo en Chino | MEDLINE | ID: mdl-34914305

RESUMEN

OBJECTIVE: To investigate the clinical characteristics, diagnosis, treatment and etiology of persistent Müllerian duct syndrome (PMDS). METHODS: A 3-year-old boy was diagnosed with PMDS according to the clinical manifestations and the results of ultrasonography, laboratory examinations and earlier surgical examination. We performed genetic tests for the patient and his family members, removed the infantile uterus by laparoscopic wedge hysterectomy, biopsied and descended the bilateral testes, and ligated the bilateral internal rings, followed by a retrospective analysis and review of relevant literature. RESULTS: The operation was successful. Gonad biopsy revealed testis tissue, and PMDS was confirmed by intraoperative findings and related examinations. Good bilateral testicular blood supply was found during the 6-month follow-up after surgery. Medical exome sequencing showed the AMHR2 gene c.1499G > A (p.Cys500Tyr) mutant homozygote (A/A) in the patient and his sister and mutant heterozygote (G/A) in his parents. CONCLUSIONS: Laparoscopy is definitely effective for the treatment of PMDS. In surgery, the infantile uterus should be removed in case of good blood supply to the testis, and so were the bilateral testes if they cannot be descended. The homozygous mutation in the AMHR2 gene c. 1499G > A (p. Cys500Tyr) can lead to male PMDS. Pedigree investigation may provide some evidence for possible fertility in PMDS patients.


Asunto(s)
Laparoscopía , Preescolar , Trastorno del Desarrollo Sexual 46,XY , Humanos , Masculino , Linaje , Estudios Retrospectivos
14.
Front Endocrinol (Lausanne) ; 12: 664533, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34759887

RESUMEN

Background: Patients with type 2 diabetes mellitus (T2DM) and heart failure (HF) are at higher risk of mortality and hospitalization for heart failure (HHF). A recent study showed that sodium-glucose cotransporter 2 (SGLT-2) inhibitors may be a promising choice. Methods: We searched the PubMed, Embase, and Cochrane databases of clinical trials for randomized controlled trials investigating the long-term effects of SGLT-2 inhibitors in patients with T2DM and HF compared with placebo. The primary outcome was cardiovascular death or HHF, and the secondary outcomes included cardiovascular death (CV death), HHF, and all-cause mortality. We also conducted an exploratory analysis and tried to identify the population, which will benefit more from the treatment. Results: After the study selection, a total of 5 trials, including 4 subgroup analyses, met the eligibility criteria. The results suggested that the use of SGLT-2 inhibitors was associated with a reduction in the incidence of CV death or HHF (HR, 0.69[95%CI, 0.63-0.77], P<0.00001), CV death (HR, 0.80[95%CI, 0.69-0.92], P = 0.001), HHF (HR, 0.67[95%CI, 0.60-0.76], P < 0.00001), and all-cause mortality (HR, 0.74[95%CI, 0.64-0.86], P < 0.0001). Moreover, patients with T2DM and HF may benefit more from the treatment than those with T2DM/HF. Conclusion: The long-term use of SGLT-2 inhibitors can help reduce the risk of mortality and HHF in patients with T2DM and HF. Systematic Review Registration: PROSPERO [https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021233156], identifier [CRD42021233156].


Asunto(s)
Diabetes Mellitus Tipo 2/tratamiento farmacológico , Insuficiencia Cardíaca/prevención & control , Inhibidores del Cotransportador de Sodio-Glucosa 2/uso terapéutico , Diabetes Mellitus Tipo 2/patología , Humanos , Pronóstico
15.
Materials (Basel) ; 14(17)2021 Aug 25.
Artículo en Inglés | MEDLINE | ID: mdl-34500916

RESUMEN

To improve the safety of orthotropic steel bridge decks and the construction efficiency of bridge deck pavement by enhancing the performance of pavement materials, a new-generation, high-performance cold-mix resin was prepared by carrying out the combination of micro-characteristic analysis and performance test. Meanwhile, the pavement performance and fatigue performance of high-performance cold-mix resin mixtures and hot-mix epoxy saphalt mixtures as a control group were studied experimentally. The results show that different kinds of epoxy resins show bisphenol structure in essence. The curing exothermic peak temperature of the cold-mix resin increases with the heating rate. Both the specific heat capacity (△CP) of cold-mix resin and cold-mix resin asphalts exhibit a sudden change between -20 °C and 40 °C. In resin asphalt mixtures, cold-mix resin forms the network structure skeleton whereas the asphalt distributed in the form of tiny particles. The dosage of respective component has a significant effect on the tensile strength and elongation at break of cold-mix resin. Compared with hot-mix epoxy asphalt mixtures, cold-mix resin mixtures exhibit comparable water stability and high and low-temperature performance, as well as greater fatigue life.

16.
Medicine (Baltimore) ; 100(36): e27057, 2021 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-34516495

RESUMEN

BACKGROUND: Congenital cytomegalovirus (cCMV) infection is the most common cause of childhood hearing loss (HL), although the strength of this association remains limited and inconclusive. Thus, the purpose of this study was to summarize evidence regarding the strength of the relationship between cCMV and childhood HL and to determine whether this relationship differs according to patient characteristics. METHODS: The PubMed, EmBase, and Cochrane Library databases were searched for studies evaluating the relationship between cCMV and HL from inception to September 2019. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used to calculate the investigated outcomes in a random-effects model. Sensitivity, subgroup, and publication bias analyses were also performed. RESULTS: A total of 15 studies involving 235,026 children met the inclusion criteria and were included in the final analysis. The summary results indicated that cCMV infection was associated with an increased risk of HL (odds ratio [OR]: 8.45; 95% confidence interval [CI]: 3.95-18.10; P < .001), irrespective of whether studies reported sensorineural HL (OR: 5.42; 95% CI: 1.98-14.88; P = .001), or did not evaluate HL types among their patients (OR: 11.04; 95% CI: 3.91-31.16; P < .001). However, in studies conducted in the United States (P < 0.001) and published in or after 2000 (P = 0.026), the study populations included <60% males (P < 0.001). Moreover, studies of high quality (P < .001) demonstrated a significantly greater risk of HL with cCMV infection than that in the corresponding subgroups. CONCLUSIONS: The study results suggest that cCMV infection increases the risk of HL. Further studies are required to investigate the association of cCMV infection with the risk of specific subtypes of HL.


Asunto(s)
Infecciones por Citomegalovirus , Pérdida Auditiva , Complicaciones Infecciosas del Embarazo , Niño , Femenino , Humanos , Masculino , Embarazo , Factores de Riesgo
17.
Front Endocrinol (Lausanne) ; 12: 695426, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34276565

RESUMEN

Purpose: Congenital hypothyroidism (CH) is the most common neonatal endocrine disease; its early detection ensures successful treatment and prevents complications. However, its molecular etiology remains unclear. Methods: We used second-generation sequencing to detect 28 pathogenic genes in 15 Chinese Han patients with CH in Shenzhen, China, and analyzed the genetic pattern of the pathogenic genes through their pedigrees. The pathogenicity assessment of gene mutations was performed based on the American College of Medical Genetics and Genomics (ACMG) classification guidelines, inheritance models, and published evidence. Results: Mutations in several target genes were identified in 14 of 15 patients (93.33%); these mutations were distributed in eight genes (DUOX2, DUOXA2, TPO, TG, TSHR, FOXE1, KDM6A, and POU1F1). DUOX2 exhibited the highest mutation frequency (44%, 11/25), followed by TPO (16%, 4/25) and TG (16%, 4/25). DUOX2 exhibited the highest biallelic mutation (7/15). Eight out of 25 variants verified by the ACMG guidelines were classified as pathogenic (P, category 1) or possibly pathogenic (LP, Type 2), namely six variants of DUOX2, and one variant of TPO and DUOXA2. Five new mutations were detected: one in DUOX2, which was located in the splicing region of mRNA (c.1575-1G>A), three new missense mutants, p.A291T, p.R169W, and p. S1237dup, and one new TPO missense variant c.2012G>T (p.W671L). The main criteria for determining the genotype-phenotype relationship were a diagnostic detection rate of 53.33% (8/15) and combination of three or more gene mutations. Conclusions: CH gene mutations in the population may be mainly manifested in genes influencing thyroid hormone synthesis, such as DUOX2 compound heterozygous mutations, which exhibited a high detection rate. The clinical manifestations are diverse, and mainly include transient CH. Therefore, genetic screening is recommended for CH patients to determine the correlation between clinical phenotypes and gene mutations, which will assist in clinical management.


Asunto(s)
Hipotiroidismo Congénito/genética , Pueblo Asiatico/genética , Pueblo Asiatico/estadística & datos numéricos , Niño , Preescolar , China/epidemiología , Hipotiroidismo Congénito/diagnóstico , Hipotiroidismo Congénito/epidemiología , Análisis Mutacional de ADN/métodos , Oxidasas Duales/genética , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Mutación , Fenotipo , Pruebas de Función de la Tiroides
18.
Materials (Basel) ; 14(9)2021 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-33925805

RESUMEN

The application of recycled coarse aggregate (RCA) made from waste concrete to replace natural coarse aggregate (NCA) in concrete structures can essentially reduce the excessive consumption of natural resources and environmental pollution. Similar to normal concrete structures, recycled concrete structures would also suffer from the damage of carbonation, which leads to the deterioration of durability and the reduction of service life. This paper presents the experimental results of the cubic compressive strength, the static elastic modulus and the stress-strain relation of recycled coarse aggregate concrete (RAC) after carbonation. The results show that the cubic compressive strength and the static elastic modulus of carbonated RAC gradually increased with the carbonation depth. The uncarbonated and fully carbonated RAC show smaller static elastic modulus than natural aggregate concrete (NAC). As the carbonation depth increased, the peak stress increased, while the peak strain decreased and the descending part of the curves gradually became steeper. As the content of RCA became larger, the peak stress decreased, while the peak strain increased and the descending part of the curves gradually became steeper. An equation for stress-strain curves of RAC after carbonation was proposed, and it was in good agreement with the test results.

19.
Opt Lett ; 46(7): 1550-1553, 2021 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-33793483

RESUMEN

The spoof localized surface plasmon (LSP) has been widely investigated but mostly with fixed multipole resonances. This Letter proposes a method to generate multipole resonances by adding a slit on the metallic ring of a complementary LSP. This slit theoretically introduces two new boundary conditions and new modes. To validate this approach, complementary LSPs with and without slits at three different angular positions are theoretically analyzed and numerically simulated. To validate and demonstrate the potential application of the proposed LSP structure, a bandpass filter (BPF) in a single-layer substrate is designed and measured by exciting the LSP with a slit on the metallic ring. The measured results show that by simply adding a slit, the BPF achieves a fractional bandwidth of 42.7% (2.5 GHz), for both |S11|<-10dB and |S21| within 1 dB variation. In the passband, a flat group delay between 0.57 ns and 0.75 ns is obtained. Moreover, the proposed structure features a low profile and a compact radius of 0.136 wavelength. By dynamically controlling slit/slits with varactors or diodes, the proposed structure is theoretically promising to be reconfigurable at microwave and even terahertz frequencies.

20.
J Int Med Res ; 49(3): 300060521994925, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33729859

RESUMEN

OBJECTIVE: To investigate the relationship between peroxisome proliferator-activated receptor gamma (PPARγ) mRNA, serum adiponectin (ADP) and lipids in paediatric patients with Kawasaki disease (KD). METHODS: This prospective study enrolled paediatric patients with KD and grouped them according to the presence or absence of coronary artery lesions (CAL). A group of healthy age-matched children were recruited as the control group. The levels of PPARγ mRNA, serum ADP and lipids were compared between the groups. Receiver operating characteristic (ROC) curve analysis was undertaken to determine if the PPARγ mRNA level could be used as a predictive biomarker of CAL prognosis. RESULTS: The study enrolled 42 patients with KD (18 with CAL [CAL group] and 24 without CAL [NCAL group]) and 20 age-matched controls. PPARγ mRNA levels in patients with KD were significantly higher than those in the controls; but significantly lower in the CAL group than the NCAL group. ROC curve analysis demonstrated that the PPARγ mRNA level provided good predictive accuracy for the prognosis of CAL. There was no association between PPARγ, ADP and lipid levels. CONCLUSION: There was dyslipidaemia in children with KD, but there was no correlation with PPARγ and ADP. PPARγ may be a predictor of CAL in patients with KD with good predictive accuracy.


Asunto(s)
Síndrome Mucocutáneo Linfonodular , PPAR gamma , Adiponectina/genética , Niño , Vasos Coronarios , Humanos , Síndrome Mucocutáneo Linfonodular/diagnóstico , Síndrome Mucocutáneo Linfonodular/genética , PPAR gamma/genética , Estudios Prospectivos
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