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1.
Hum Mol Genet ; 31(5): 803-815, 2022 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-34590686

RESUMO

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common subphenotype of non-syndromic orofacial clefts arising from genetic and/or environmental perturbations during embryonic development. We previously identified 2p24.2 as a risk locus associated with NSCL/P in the Chinese Han population, and MYCN is a candidate risk gene in this region. To understand the potential function of MYCN in craniofacial development, we generated Wnt1-Cre;Mycnflox/flox mice that exhibited cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans. Further analyses indicated that the cleft palate was secondary to the delayed elevation of palatal shelves caused by micrognathia. The micrognathia resulted from impaired chondrogenic differentiation in Merkel's cartilage, which limited tongue development, leading to microglossia. In terms of mechanism, Mycn deficiency in cranial neural crest cells (CNCCs) downregulated Sox9 expression by inhibiting Wnt5a in a CNCC-derived chondrogenic lineage in Merkel's cartilage. To investigate whether MYCN deficiency contributed to NSCL/P, we performed direct sequencing targeting all exons and exon-intron boundaries of MYCN in 104 multiplex families with Mendelian NSCL/P and identified a novel pathogenic variant in MYCN. Taken together, our data indicate that ablation of Mycn in mouse CNCCs could resemble PRS by suppressing the Wnt5a-Sox9 signaling pathway in Merkel's cartilage and that mutations in MYCN may be novel potential causes of NSCL/P.


Assuntos
Fenda Labial , Fissura Palatina , Micrognatismo , Proteína Proto-Oncogênica N-Myc/metabolismo , Síndrome de Pierre Robin , Doenças da Língua , Animais , Fenda Labial/genética , Fissura Palatina/genética , Fissura Palatina/patologia , Humanos , Camundongos , Proteína Proto-Oncogênica N-Myc/genética , Síndrome de Pierre Robin/metabolismo , Polimorfismo de Nucleotídeo Único
2.
J Nutr ; 154(6): 1869-1879, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38490533

RESUMO

BACKGROUND: Although low-carbohydrate and low-fat diets have been shown to have short-term metabolic benefits, the associations of these dietary patterns, particularly different food sources and macronutrient quality, with mortality in people with cardiovascular disease (CVD) remain unclear. OBJECTIVES: To examine the associations of different types of lower-carbohydrate diets (LCDs) and lower-fat diets (LFDs) with mortality in individuals with CVD. METHODS: This study included 3971 adults with CVD from the NHANES 1999-2014. Mortality status was linked to National Death Index mortality data through 31 December 2019. Overall, unhealthy and healthy LCD and LFD scores were determined based on the percentages of energy from total and subtypes of carbohydrate, fat, and protein. Cox proportional hazards regression models were applied to calculate hazard ratios (HRs) and 95% confidence intervals (CIs). RESULTS: Higher healthy LCD score was associated with favorable blood lipids and higher homeostasis model assessment of insulin resistance, whereas higher unhealthy LFD score was associated with lower high-density lipoprotein and higher C-reactive protein at baseline (all P-trend < 0.05). During 35,150 person-years of follow-up, 2163 deaths occurred. For per 20-percentile increment in dietary scores, the multivariate-adjusted HRs of all-cause mortality were 0.91 (95% CI: 0.86, 0.96) for healthy LCD score (P < 0.001), 0.94 (95% CI: 0.89, 1.00) for healthy LFD score (P = 0.04), and 1.07 (95% CI: 1.00, 1.14) for unhealthy LFD score (P = 0.04). CONCLUSIONS: Overall LCD and LFD scores are not associated with total mortality. Unhealthy LFD scores are associated with higher total mortality, whereas healthy LCD and LFD scores are associated with lower mortality in people with CVD.


Assuntos
Doenças Cardiovasculares , Dieta com Restrição de Carboidratos , Dieta com Restrição de Gorduras , Humanos , Doenças Cardiovasculares/mortalidade , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Adulto , Inquéritos Nutricionais
3.
Eur J Nutr ; 63(4): 1103-1111, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38319384

RESUMO

PURPOSE: Previous observational studies have shown that green tea consumption is associated with a reduced incidence of digestive system cancers (DSCs). However, the observed association could be due to confounding factors. Therefore, we used a two-sample Mendelian randomization (MR) approach to assess the causal effect of green tea intake on the risk of five common DSCs. METHODS: Independent genetic variants strongly associated with green tea consumption in European and East Asian populations were selected as instrumental variables in genome-wide association studies involving up to 64,949 European individuals and 152,653 East Asian individuals, respectively. The associations between genetic variants and DSCs were extracted from the FinnGen study and the Japan Biobank. The primary analysis was performed using random-effects inverse variance weighting (IVW). Other MR analyses, including weighted mode-based estimate, weighted-median, MR-Egger regression, Mendelian Randomization-Pleiotropy Residual Sum and Outlier (MR-PRESSO) analysis, were used for sensitivity analyses. In addition, a multivariate MR design was performed to adjust for smoking and alcohol consumption. RESULTS: The IVW results showed no causal relationship between tea intake and DSCs risk in European population (esophagus cancer: odds ratio (OR) = 1.044, 95% confidence interval (CI) 0.992-1.099, p = 0.096; stomach cancer: OR = 0.988, 95% CI 0.963-1.014, p = 0.368; colorectal cancer: OR = 1.003, 95% CI 0.992-1.015, p = 0.588; liver cancer: OR = 0.996, 95% CI 0.960-1.032, p = 0.808; pancreatic cancer: OR = 0.990, 95% CI 0.965-1.015, p = 0.432). The MR-Egger regression, MR-PRESSO analysis and other methods also confirmed the reliability of the conclusion. Similarly, no significant association was found between green tea consumption and the incidence of DSCs among East Asians. This relationship is not significant even after adjusting for smoking and alcohol consumption (P > 0.05). CONCLUSION: Our study provides evidence that genetically predicted green tea intake is not causally associated with the development of DSCs in the European and East Asian population.


Assuntos
Neoplasias do Sistema Digestório , Estudo de Associação Genômica Ampla , Análise da Randomização Mendeliana , Chá , População Branca , Humanos , Análise da Randomização Mendeliana/métodos , Neoplasias do Sistema Digestório/genética , Neoplasias do Sistema Digestório/epidemiologia , Neoplasias do Sistema Digestório/etiologia , Estudo de Associação Genômica Ampla/métodos , População Branca/genética , População Branca/estatística & dados numéricos , Ásia Oriental/epidemiologia , Europa (Continente)/epidemiologia , Fatores de Risco , Povo Asiático/genética , Povo Asiático/estatística & dados numéricos , Polimorfismo de Nucleotídeo Único , Incidência , População do Leste Asiático
4.
Int J Mol Sci ; 25(4)2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38396732

RESUMO

Phosphoenolpyruvate carboxylase (PEPC) gene family plays a crucial role in both plant growth and response to abiotic stress. Approximately half of the Orchidaceae species are estimated to perform CAM pathway, and the availability of sequenced orchid genomes makes them ideal subjects for investigating the PEPC gene family in CAM plants. In this study, a total of 33 PEPC genes were identified across 15 orchids. Specifically, one PEPC gene was found in Cymbidium goeringii and Platanthera guangdongensis; two in Apostasia shenzhenica, Dendrobium chrysotoxum, D. huoshanense, Gastrodia elata, G. menghaiensis, Phalaenopsis aphrodite, Ph. equestris, and Pl. zijinensis; three in C. ensifolium, C. sinense, D. catenatum, D. nobile, and Vanilla planifolia. These PEPC genes were categorized into four subgroups, namely PEPC-i, PEPC-ii, and PEPC-iii (PTPC), and PEPC-iv (BTPC), supported by the comprehensive analyses of their physicochemical properties, motif, and gene structures. Remarkably, PEPC-iv contained a heretofore unreported orchid PEPC gene, identified as VpPEPC4. Differences in the number of PEPC homolog genes among these species were attributed to segmental duplication, whole-genome duplication (WGD), or gene loss events. Cis-elements identified in promoter regions were predominantly associated with light responsiveness, and circadian-related elements were observed in each PEPC-i and PEPC-ii gene. The expression levels of recruited BTPC, VpPEPC4, exhibited a lower expression level than other VpPEPCs in the tested tissues. The expression analyses and RT-qPCR results revealed diverse expression patterns in orchid PEPC genes. Duplicated genes exhibited distinct expression patterns, suggesting functional divergence. This study offered a comprehensive analysis to unveil the evolution and function of PEPC genes in Orchidaceae.


Assuntos
Orchidaceae , Fosfoenolpiruvato Carboxilase , Humanos , Fosfoenolpiruvato Carboxilase/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Orchidaceae/genética , Orchidaceae/metabolismo , Plantas/metabolismo , Sequência de Bases , Filogenia
5.
J Environ Manage ; 366: 121679, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38996601

RESUMO

Many studies have confirmed that climate change leads to frequent urban flooding, which can lead to significant socioeconomic repercussions. However, most existing studies have not evaluated the impacts of climate change on urban flood from both event-scale and annual-scale dimensions. In addition, there are only few studies that simultaneously consider scenario and model uncertainties of climate change, and combine flood risk assessment and uncertainty analysis results to provide practical suggestions for urban drainage system management. This study uses the statistical downscaling method to calculate the design rainfall under ten rainfall return periods of four climate models and three climate change scenarios in 2040s, 2060s, and 2080s in various prefecture-level cities in China. The four climate models are HadGEM2- ES, MPI-ESM-MR, NorESM1-M and FGOALS-g2 models and the three climate change scenarios are constructed by different representative concentration pathways (RCP), namely RCP2.6, RCP4.5 and RCP8.5. On this basis, relying on the generated drainage systems using geographical information and other data, event-scale and annual-scale precipitation are combined to calculate the change ratio of annual flood volume expectation in prefecture-level cities in each future year compared with the current situation. Furthermore, the study evaluates scenario and model uncertainties of climate change, and then comprehensively integrates the flood risk and its uncertainties to provides suggestions for urban drainage system management.

6.
Molecules ; 29(11)2024 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-38893547

RESUMO

Hemorrhoid disease is a common anorectal disorder affecting populations worldwide, with high prevalence, treatment difficulties, and considerable treatment costs. Compared to other treatment options, medical therapy for hemorrhoids offers minimal harm, more dignity to patients, and is more economical. Unfortunately, there are few chemical hemorrhoid medications available clinically, which makes the search for efficacious, cost-effective, and environmentally friendly new medication classes a focal point of research. In this context, searching for available natural products to improve hemorrhoids exhibits tremendous potential. These products are derived from nature, predominantly from plants, with a minor portion coming from animals, fungi, and algae. They have excellent coagulation pathway regulation, anti-inflammatory, antibacterial, and tissue regeneration activities. Therefore, we take the view that they are a class of potential hemorrhoid drugs, prevention products, and medication add-on ingredients. This article first reviews the factors contributing to the development of hemorrhoids, types, primary symptoms, and the mechanisms of natural products for hemorrhoids. Building on this foundation, we screened natural products with potential hemorrhoid improvement activity, including polyphenols and flavonoids, terpenes, polysaccharides, and other types.


Assuntos
Produtos Biológicos , Hemorroidas , Hemorroidas/tratamento farmacológico , Humanos , Produtos Biológicos/uso terapêutico , Produtos Biológicos/farmacologia , Produtos Biológicos/química , Animais , Polifenóis/uso terapêutico , Polifenóis/química , Polifenóis/farmacologia , Anti-Inflamatórios/uso terapêutico , Anti-Inflamatórios/farmacologia , Anti-Inflamatórios/química
7.
Water Sci Technol ; 90(1): 124-141, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39007310

RESUMO

With the increasing frequency of extreme weather events and a deepening understanding of disasters, resilience has received widespread attention in urban drainage systems. The studies on the resilience assessment of urban drainage systems are mostly indirect assessments that did not simulate human behavior affected by rainfall or semi-quantitative assessments that did not build simulation models, but few research characterizes the processes between people and infrastructure to assess resilience directly. Our study developed a dynamic model that integrates urban mobility, flood inundation, and sewer hydrodynamics processes. The model can simulate the impact of rainfall on people's mobility behavior and the full process including runoff generation, runoff entering pipes, node overflow, flood migration, urban mobility, and residential water usage. Then, we assessed the resilience of the urban drainage system under rainfall events from the perspectives of property loss and urban mobility. The study found that the average percentage increase in commuting time under different return periods of rainfall ranged from 6.4 to 203.9%. Calculating the annual expectation of property loss and traffic obstruction, the study found that the annual expectation loss in urban mobility is 9.1% of the annual expectation of property loss if the rainfall is near the morning commuting peak.


Assuntos
Inundações , Hidrodinâmica , Modelos Teóricos , Cidades , Drenagem Sanitária , Chuva , Movimentos da Água , Esgotos
8.
Angew Chem Int Ed Engl ; 63(19): e202402456, 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38415324

RESUMO

The solid electrolyte interphase (SEI) membrane on the Li metal anode tends to breakdown and undergo reconstruction during operation, causing Li metal batteries to experience accelerated decay. Notably, an SEI membrane with self-healing characteristics can help considerably in stabilizing the Li-electrolyte interface; however, uniformly fixing the repairing agent onto the anode remains a challenging task. By leveraging the noteworthy film-forming attributes of bis(fluorosulfonyl)imide (FSI-) anions and the photopolymerization property of the vinyl group, the ionic liquid 1-vinyl-3-methylimidazolium bis(fluorosulfonyl)imide (VMI-FSI) was crosslinked with polyethylene oxide (PEO) in this study to form a self-healing film fixing FSI- groups as the repairing agent. When they encounter lithium metal, the FSI- groups are chemically decomposed into LiF & Li3N, which assist forming SEI membrane on lithium sheet and repairing SEI membrane in the cracks lacerated by lithium dendrite. Furthermore, the FSI- anions exchanged from film are electrochemically decomposed to generate inorganic salts to strengthen the SEI membrane. Benefiting from the self-healing behavior of the film, Li/LiCoO2 cells with the loading of 16.3 mg cm-2 exhibit the initial discharge capacities of 183.0 mAh ⋅ g-1 and are stably operated for 500 cycles with the retention rates of 81.4 % and the average coulombic efficiency of 99.97 %, operated between 3.0-4.5 V vs. Li+/Li. This study presents a new design approach for self-healing Li metal anodes and durable lithium metal battery.

9.
Phytother Res ; 37(7): 2902-2914, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36867511

RESUMO

Capilliposide B (CPS-B), a novel oleanane triterpenoid saponin derived from Lysimachia capillipes Hemsl, is a potent anticancer agent. However, its anticancer mechanism remains elusive. In the present study, we demonstrated the potent anti-tumor activity and molecular mechanism of CPS-B both in vitro and in vivo. Proteomic analysis using isobaric tags for relative and absolute quantitation techniques suggested that CPS-B modulated autophagy in prostate cancer (PC). Moreover, Western blotting showed that both autophagy and epithelial-mesenchymal transition occurred place after CPS-B treatment in vivo, which was also proven in PC-3 cancer cells. We deduced that CPS-B inhibited migration by inducing autophagy. We examined the accumulation of reactive oxygen species (ROS) in cells, and in downstream pathways, LKB1 and AMPK were activated while mTOR was inhibited. Transwell experiment results showed that CPS-B inhibited the metastasis of PC-3 cells and that this effect was significantly attenuated after pretreatment with chloroquine, indicating that CPS-B inhibited metastasis via autophagy induction. Altogether, these data suggest that CPS-B is a potential therapeutic agent for cancer treatment that acts by inhibiting migration through the ROS/AMPK/mTOR signaling pathway.


Assuntos
Neoplasias da Próstata , Saponinas , Triterpenos , Masculino , Humanos , Espécies Reativas de Oxigênio/metabolismo , Proteínas Quinases Ativadas por AMP/metabolismo , Proteômica , Apoptose , Serina-Treonina Quinases TOR/metabolismo , Saponinas/farmacologia , Saponinas/uso terapêutico , Triterpenos/farmacologia , Triterpenos/uso terapêutico , Autofagia , Neoplasias da Próstata/metabolismo , Linhagem Celular Tumoral
10.
Int J Mol Sci ; 25(1)2023 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-38203355

RESUMO

Angraecum, commonly known as Darwin's orchid, is the largest genus of Angraecinae (Orchidaceae). This genus exhibits a high morphological diversity, making it as a good candidate for macroevolutionary studies. In this study, four complete plastomes of Angraecum were firstly reported and the potential variability hotspots were explored. The plastomes possessed the typical quadripartite structure and ranged from 150,743 to 151,818 base pair (bp), with a guanine-cytosine (GC) content of 36.6-36.9%. The plastomes all contained 120 genes, consisting of 74 protein-coding genes (CDS), 38 transfer RNA (tRNA) genes and 8 ribosomal RNA (rRNA) genes; all ndh genes were pseudogenized or lost. A total of 30 to 46 long repeats and 55 to 63 SSRs were identified. Relative synonymous codon usage (RSCU) analysis indicated a high degree of conservation in codon usage bias. The Ka/Ks ratios of most genes were lower than 1, indicating that they have undergone purifying selection. Based on the ranking of Pi (nucleotide diversity) values, five regions (trnSGCU-trnGGCC, ycf1-trnNGGU, trnNGUU-rpl32, psaC-ndhE and trnSGCU-trnGGCC) and five protein-coding genes (rpl32, rps16, psbK, rps8, and ycf1) were identified. The consistent and robust phylogenetic relationships of Angraecum were established based on a total of 40 plastomes from the Epidendroideae subfamily. The genus Angraecum was strongly supported as a monophyletic group and sister to Aeridinae. Our study provides an ideal system for investigating molecular identification, plastome evolution and DNA barcoding for Angraecum.


Assuntos
Orchidaceae , Orchidaceae/genética , Filogenia , Uso do Códon , Nucleotídeos , Fototerapia
11.
Int J Mol Sci ; 24(19)2023 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-37833995

RESUMO

Trichoglottis exhibits a range of rich variations in colors and shapes of flower and is a valuable ornamental orchid genus. The genus Trichoglottis has been expanded by the inclusion of Staurochilus, but this Trichoglottis sensu lato (s.l.) was recovered as a non-monophyletic genus based on molecular sequences from one or a few DNA regions. Here, we present phylogenomic data sets, incorporating complete plastome sequences from seven species (including five species sequenced in this study) of Trichoglottis s.l. (including two species formerly treated as Staurochilus), to compare plastome structure and to reconstruct the phylogenetic relationships of this genus. The seven plastomes possessed the typical quadripartite structure of angiosperms and ranged from 149,402 bp to 149,841 bp with a GC content of 36.6-36.7%. These plastomes contain 120 genes, which comprise 74 protein-coding genes, 38 tRNA genes, and 8 rRNA genes, all ndh genes were pseudogenized or lost. A total of 98 (T. philippinensis) to 134 (T. ionosma) SSRs and 33 (T. subviolacea) to 46 (T. ionosma) long repeats were detected. The consistent and robust phylogenetic relationships of Trichoglottis were established using a total of 25 plastid genomes from the Aeridinae subtribe. The genus Trichoglottis s.l. was strongly supported as a monophyletic group, and two species formerly treated as Staurochilus were revealed as successively basal lineages. In addition, five mutational hotspots (trnNGUU-rpl32, trnLUAA, trnSGCU-trnGUCC, rbcL-accD, and trnTGGU-psbD) were identified based on the ranking of PI values. Our research indicates that plastome data is a valuable source for molecular identification and evolutionary studies of Trichoglottis and its related genera.


Assuntos
Genomas de Plastídeos , Orchidaceae , Filogenia , Orchidaceae/genética , Mutação
12.
J Prosthet Dent ; 129(3): 447.e1-447.e10, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36737356

RESUMO

STATEMENT OF PROBLEM: The clinical application of short implants has been increasing. However, studies on the marginal bone loss of short implants are sparse, and clinicians often choose short implants based on their own experience rather than on scientific information. PURPOSE: The purpose of this finite element analysis study was to evaluate the microstrain-stress distribution in the peri-implant bone and implant components for 4 types of short implants at different placement depths of platform switching. MATERIAL AND METHODS: By using short implants as prototypes, 4 short implant models were 1:1 modeled. The diameter and length of the implants were 5×5, 5×6, 6×5, and 6×6 mm. The restoration was identical for all implants. Three different depths of implant platform switching were set: equicrestal, 0.5-mm subcrestal, and 1-mm subcrestal. The models were then assembled and assigned an occlusal force of 200 N (vertical or 30-degree oblique). A finite element analysis was carried out to evaluate the maximum equivalent elastic strain and von Mises stress in the bone and the stress distribution in the implant components. RESULTS: The 5×5 implant group showed the largest intraosseous strain (21.921×103 µÎµ). A 1-mm increase in implant diameter resulted in a 17.1% to 37.4% reduction in maximum intraosseous strain when loaded with oblique forces. The strain in the bone tended to be much smaller than the placement depth at the equicrestal and 0.5-mm subcrestal positions than that at the 1-mm subcrestal position, especially under oblique force loading, with an increase of approximately 37.4% to 81.8%. In addition, when the cortical bone thickness was less than 4 mm, 5×6 implants caused significantly higher intraosseous stresses than 6×6 implants. CONCLUSIONS: Large implant diameters, rather than long implants, led to reduced intraosseous strain, especially under oblique loading. Regarding the implant platform switching depth, the short implant showed small intraosseous strains when the platform switching depth was equicrestal or 0.5-mm subcrestal.


Assuntos
Implantes Dentários , Análise de Elementos Finitos , Estresse Mecânico , Fenômenos Biomecânicos , Força de Mordida , Análise do Estresse Dentário/métodos , Simulação por Computador , Planejamento de Prótese Dentária
13.
Apoptosis ; 27(11-12): 840-851, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35849265

RESUMO

In the last decade, there has been a rapid expansion in tumor targeted therapy using mesenchymal stem cells (MSCs) based on their unique tropism towards cancer cells. Despite similarities in morphology, immunophenotype, and differential potent in vitro, MSCs originated from different tissues do not necessarily have equivalent biological behaviors. It is important to screen the most chemotactic MSCs to cancer cells. In this study, different MSCs were isolated from various human tissues including adipose, umbilical cord, amniotic membrane, and chorion. The chemotaxis of human MSCs to cervical cancer cells was measured by CCK-8, ELISA and Transwell invasion assays. Western blotting was performed to explore the underlying mechanisms. MSCs derived from distinct sources can be differently recruited to cervical cancer cells, among which chorion-derived MSC (CD-MSC) possessed the strongest tropic capacity. CXCL12 was found to be highly secreted by cervical cancer cells, in parallel with the expression of CXCR4 in all MSCs. CD-MSC displayed the highest level of CXCR4. These results indicated that CXCL12/CXCR4 pathway contributed to the different chemotaxis to cervical cancer cells of each MSCs. This study proposed that CD-MSC with the highest CXCR4 expression is a promising therapeutic vehicle for targeted therapy in cervical cancer.


Assuntos
Células-Tronco Mesenquimais , Neoplasias do Colo do Útero , Feminino , Humanos , Quimiotaxia , Neoplasias do Colo do Útero/genética , Neoplasias do Colo do Útero/metabolismo , Apoptose , Cordão Umbilical
14.
BMC Ophthalmol ; 22(1): 27, 2022 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-35033039

RESUMO

BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 89 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families. METHODS: Five retinitis pigmentosa patients with PDE6A variants and three with PDE6B variants were identified through a hereditary eye disease enrichment panel (HEDEP), all patients' medical and ophthalmic histories were collected, and ophthalmological examinations were performed, followed by an analysis of the possible causative variants. Sanger sequencing was used to verify the variants. RESULTS: We identified 20 variants in eight patients: 16 of them were identified in either PDE6A or PDE6B in a compound heterozygous state. Additional four heterozygous variants were identified in the genes ADGRA3, CA4, OPTN, RHO. Two novel genetic changes in PDE6A were identified (c.1246G > A and c.1747 T > A), three novel genetic changes in PDE6B were identified (c.401 T > C, c.2293G > C and c.1610-1612del), out of the novel identified variants one was most probably non-pathogenic (c.2293G > C), all other novel variants are pathogenic. Additional variant was identified in CA4 and RHO, which can cause ADRP (c.243G > A, c.688G > A). In addition, a novel variant in ADGRA3 was identified (c.921-1G > A). CONCLUSIONS: This study reveals novel and known variants in PDE6A and PDE6B genes in Chinese families with autosomal recessive RP, and expands the clinical and genetic findings of photoreceptor-specific enzyme deficiencies.


Assuntos
Proteínas do Olho , Retinose Pigmentar , China/epidemiologia , Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética , Proteínas do Olho/genética , Humanos , Mutação , Linhagem , Fenótipo , Retinose Pigmentar/genética
15.
Ecotoxicol Environ Saf ; 231: 113212, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35065501

RESUMO

Light, one of the most important natural resources for plant species, significantly influences the biomass yield and nutrient uptake capacity in plants. Light sources with different spectra combinations can impact the bioavailability, toxicity, and solubility of heavy metals in soils by altering the concentrations and fractionations of soil dissolved organic matter (DOM). A series of light irradiation treatments were performed to evaluate the influence of red, yellow, and blue lights on the characteristics of DOM in the rhizosphere soils of Arabidopsis thaliana. The results showed that monochromatic red light significantly raised the levels of DOM and proportions of hydrophilic fractionations in the rhizosphere of A. thaliana relative to the control, while monochromatic blue light had the opposite effect. Moreover, the proportions of hydrophobic acid, which can mobilize Cd effectively, also raised with increasing doses of red light, which stimulated Cd mobilization. The application of yellow light not only increased the levels of hydrophobic acid in monochromatic red light treatment but also decreased the proportion of hydrophobic fractions in monochromatic blue light treatment, partially weakening the negative impacts of pure blue light on soil Cd activation. Moreover, DOM from the combined red, yellow, and blue lights resulted in a significantly stronger Cd extraction efficiency than the other light irradiation treatments, consequently enhancing the Cd phytoextraction efficiency of A. thaliana. The findings of this study demonstrated that a suitable light combination could enhance the phytoremediation effect of A. thaliana by activating soil Cd, and this method can be extrapolated to the real field, where light irradiation can be easily applied and modulated.


Assuntos
Arabidopsis , Poluentes do Solo , Biodegradação Ambiental , Cádmio/análise , Matéria Orgânica Dissolvida , Rizosfera , Solo , Poluentes do Solo/análise
16.
Ecotoxicol Environ Saf ; 244: 114064, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-36087470

RESUMO

A total of 511 topsoils and 139 deep soil samples were collected to analyze the distribution characteristics, regional differentiation factors, and contamination sources of Cd in Shantou City, and to assess its environmental, ecological, and human health risks. We used a combination of multivariate statistics and geostatistics to quantify the distribution and level of Cd contamination in the study area, and an absolute principal component scores-multiple linear regression model to resolve the sources of contamination and their contribution values, combined with the health risk model to assess the human health risk from each source. The result exhibited that the average value of soil Cd content was 0.100 mg/kg, which was lower than the threshold value of soil environmental quality standard, but higher than the 0.070 mg/kg background value of soil. The high-value areas of surface Cd content in the study area were distributed in the western, northern, and northeastern parts of Shantou, and the source of Cd in the soil was a mix of anthropogenic and natural contamination. The non-carcinogenic and carcinogenic risks of heavy metal Cd exposure pathways are: oral ingestion > dermal contact > inhalation. The human health risk posed by Cd is below the reference threshold, indicating that the Cd contents in the soil have no unacceptable health risk to the residents. Among industrial sources, natural sources, and unknown sources with potential carcinogenic and non-carcinogenic risks, natural sources were the main source of contamination for adults and children. Among the different soil types, paddy, and red soils had relatively high Cd content, and among the different soil-forming parent materials, the Cd content in soils developed on Quaternary sediments was significantly higher than that other parent materials. Among the different land use types, the Cd content of soil for construction land was the highest. This study provides a scientific foundation and reference for the prevention of soil Cd contamination in Shantou City and the analysis of soil contamination sources in areas with similar contamination patterns.


Assuntos
Metais Pesados , Poluentes do Solo , Adulto , Cádmio/análise , Criança , China , Monitoramento Ambiental , Humanos , Metais Pesados/análise , Medição de Risco , Solo , Poluentes do Solo/análise
17.
J Prosthet Dent ; 2022 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-35764449

RESUMO

This clinical report describes the rehabilitation of a mandibular defect after tumor resection with an implant-supported overdenture and the attachment selection as guided by 3-dimensional finite element analysis. Autologous bone grafting was declined by the patient who demanded the restoration of lateral appearance and mastication function. Three implants were placed based on the condition of the bone, and a satisfactory definitive prosthesis was provided that corresponded with the results of the finite element analysis.

18.
Med Sci Monit ; 27: e934874, 2021 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-34584064

RESUMO

There was an error in Figure 4. The correct Figure 4 is provided below. The picture error would not affect the conclusion of the paper. Reference: Dong Ouyang, Ruyi Li, Yaxian Li, Xueqiong Zhu. Construction of a Competitive Endogenous RNA Network in Uterine Corpus Endometrial Carcinoma. Med Sci Monit 2019; 25:7998-8010. DOI: 10.12659/MSM.915798.

19.
Molecules ; 26(3)2021 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-33494543

RESUMO

There is growing interest in developing biomaterial-coated liposome delivery systems to improve the stability and bioavailability of curcumin, which is a hydrophobic nutraceutical claimed to have several health benefits. The curcumin-loaded rhamnolipid liposomes (Cur-RL-Lips) were fabricated from rhamnolipid and phospholipids, and then chitosan (CS) covered the surface of Cur-RL-Lips by electrostatic interaction to form CS-coated Cur-RL-Lips. The influence of CS concentration on the physical stability and digestion of the liposomes was investigated. The CS-coated Cur-RL-Lips with RL:CS = 1:1 have a relatively small size (412.9 nm) and positive charge (19.7 mV). The CS-coated Cur-RL-Lips remained stable from pH 2 to 5 at room temperature and can effectively slow the degradation of curcumin at 80 °C; however, they were highly unstable to salt addition. In addition, compared with Cur-RL-Lips, the bioavailability of curcumin in CS-coated Cur-RL-Lips was relatively high due to its high transformation in gastrointestinal tract. These results may facilitate the design of a more efficacious liposomal delivery system that enhances the stability and bioavailability of curcumin in nutraceutical-loaded functional foods and beverages.


Assuntos
Quitosana , Materiais Revestidos Biocompatíveis , Curcumina , Digestão , Trato Gastrointestinal/metabolismo , Glicolipídeos , Animais , Disponibilidade Biológica , Quitosana/química , Quitosana/farmacocinética , Materiais Revestidos Biocompatíveis/química , Materiais Revestidos Biocompatíveis/farmacocinética , Curcumina/química , Curcumina/farmacocinética , Glicolipídeos/química , Glicolipídeos/farmacocinética , Humanos , Lipossomos
20.
J Cell Mol Med ; 24(13): 7470-7478, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32431079

RESUMO

The expression of tissue inhibitor metalloproteinase-1 (TIMP-1) significantly increased after acute cerebral ischaemia and involved in neurodegeneration. The purpose was to prospectively investigate the relationship between serum TIMP-1 with post-stroke cognitive impairment. Our participants were from an ancillary study of China Antihypertensive Trial in Acute Ischemic Stroke. 598 ischaemic stroke patients from seven participating hospitals were included. Cognitive impairment was evaluated using Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) at 3 months. 316 (52.84%) or 384 (64.21%) participants had cognitive impairment according to MMSE or MoCA, respectively. Compared with the first quartile of TIMP-1, the multivariate-adjusted odds ratios (95% confidence intervals) for the highest quartile were 1.80 (1.09-2.97) for cognitive impairment defined by MMSE and 2.55 (1.49-4.35) by MoCA. Multiple-adjusted spline regression models showed linear associations between TIMP-1 concentrations and cognitive impairment (P value for linearity < 0.01). The addition of TIMP-1 to models including conventional factors improved reclassification for cognitive impairment, as shown by net reclassification index or integrated discrimination improvement (P < 0.05). Participants with both higher TIMP-1 and matrix metalloproteinase-9 levels simultaneously had highest risk of cognitive impairment. Higher serum TIMP-1 levels were associated with increased risk of cognitive impairment after acute ischaemic stroke, independently of established risk factors.


Assuntos
Disfunção Cognitiva/sangue , Disfunção Cognitiva/etiologia , AVC Isquêmico/complicações , Acidente Vascular Cerebral/complicações , Inibidor Tecidual de Metaloproteinase-1/sangue , Biomarcadores/metabolismo , Intervalos de Confiança , Matriz Extracelular/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Curva ROC , Fatores de Risco
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