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1.
Transfusion ; 2024 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-39373403

RESUMO

BACKGROUND: ABO grouping is the most important pretransfusion testing that is directly related to the safety of blood transfusion. A weak ABO subgroup is one of the important causes of an ABO grouping discrepancy. Here, we investigated the characterization of four novel ABO variants including a novel B(A) subgroup. STUDY DESIGN AND METHODS: RBCs were phenotyped by standard serology methods. The full coding regions of the ABO gene and the erythroid cell-specific regulatory elements in intron one were sequenced. The effect of the possible splice site variant was predicted by Alamut software. The 3D structural modeling of three relative B(A) enzymes (p.Met214Thr, p.Met214Val, and p.Met214Leu) were performed by PyMOL software. RESULTS: Four novel ABO alleles were identified with weak ABO expression in this study, in which two would lead to premature terminations, and two resulted in amino acid changes. In silico analysis revealed that the splice site variant c.155G>T had the potential to alter splice transcripts. 3D structural view shown that the variant amino acid position 214 was spatially adjacent to the donor recognition pocket residues (266Met and 268Ala) and just next to the 211DVD213 motif. The size of the side chain of Thr and Val is the smallest, Leu is medium, and Met is the largest, and the size changes in the critical position 214 may affect the donor recognition pocket. CONCLUSION: Four ABO subgroup alleles were newly linked to different kinds of ABO variants and the possible mechanism through which they produce weak ABO subgroups was analyzed in silico.

2.
PLoS One ; 19(9): e0293383, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39325754

RESUMO

ARPE-19 cells are derived from adult human retinal pigment epithelium (RPE). The response of these cells to the stress of serum deprivation mimics some important processes relevant to age-related macular degeneration (AMD). Here we extend the characterization of this response using RNASeq and EGSEA gene set analysis of ARPE-19 cells over nine days of serum deprivation. This experiment confirmed the up-regulation of cholesterol and lipid-associated pathways that increase cholesterol levels in these cells. The gene expression analysis also identified other pathways relevant to AMD progression. There were significant changes in extracellular matrix gene expression, notably a switch from expression of collagen IV, a key component of Bruch's membrane (part of the blood-retina barrier), to expression of a fibrosis-like collagen type I matrix. Changes in the expression profile of the extracellular matrix led to the discovery that amelotin is induced in AMD and is associated with the development of the calcium deposits seen in late-stage geographic atrophy. The transcriptional profiles of other pathways, including inflammation, complement, and coagulation, were also modified, consistent with immune response patterns seen in AMD. As previously noted, the cells resist apoptosis and autophagy but instead initiate a gene expression pattern characteristic of senescence, consistent with the maintenance of barrier function even as other aspects of RPE function are compromised. Other differentially regulated genes were identified that open new avenues for investigation. Our results suggest that ARPE-19 cells maintain significant stress responses characteristic of native RPE that are informative for AMD. As such, they provide a convenient system for discovery and for testing potential therapeutic interventions.


Assuntos
Degeneração Macular , Epitélio Pigmentado da Retina , Humanos , Epitélio Pigmentado da Retina/metabolismo , Epitélio Pigmentado da Retina/patologia , Degeneração Macular/genética , Degeneração Macular/patologia , Degeneração Macular/metabolismo , Linhagem Celular , Matriz Extracelular/metabolismo , Meios de Cultura Livres de Soro/farmacologia , Regulação da Expressão Gênica , Perfilação da Expressão Gênica , Colesterol/metabolismo , Transcriptoma
3.
J Clin Pharmacol ; 2024 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-39297668

RESUMO

The accumulation of protoporphyrin IX in the liver caused by isoniazid and rifampicin through the disorder of heme biosynthesis was considered an important mechanism of anti-tuberculosis drug-induced liver injury (ATLI). Alanine synthase 1 (ALAS1) is a rate-limiting enzyme in the process of heme synthesis. This study aimed to investigate the association between ALAS1 gene polymorphism, serum ALAS1 level, and the risk of ATLI. This study was a case-control study including 58 ATLI cases and 192 controls. Four single nucleotide polymorphisms (SNPs) of the ALAS1 gene were selected for genotyping and serum ALAS1 concentrations were detected using ELISA kits. There was no significant difference in the genotype distribution of four SNPs between the ATLI cases and the controls under different genetic models. Patients carrying the GG genotype of SNP rs352163 in controls had higher baseline ALAS1 levels than those in ATLI cases (243.6 vs 290.2 ng/L, P = .034), and patients with baseline ALAS1 < 337.85 ng/L had a higher risk of ATLI than those with ALAS1 ≥ 337.85 ng/L (HR = 2.679, 95% CI: 1.360-5.278, P = .004). Our findings indicated that the serum ALAS1 concentrations in the ATLI cases were lower than those in the controls, and the lower baseline ALAS1 levels can be associated with higher ATLI risk.

4.
Sci Rep ; 14(1): 20573, 2024 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-39232083

RESUMO

Asthma is a prevalent chronic disease characterized by airflow obstruction, causing breathing difficulties and wheezing. This study investigates the association between the C-reactive protein to albumin ratio (CAR) and asthma prevalence, as well as all-cause and respiratory mortality among asthma patients, using data from the 2001-2018 National Health and Nutrition Examination Survey. We included participants aged 20 years and older with complete CAR data, excluding those who were pregnant or lost to follow-up. The analysis employed weighted logistic regression and Cox proportional hazards models with stepwise adjustment, restricted cubic spline analysis for nonlinear relationships, and time-dependent ROC curves for predictive accuracy. Results showed that the highest CAR quartile significantly increased the risk of asthma (OR 1.56, 95% CI 1.38-1.78), all-cause mortality (HR 2.20, 95% CI 1.67-2.89), and respiratory mortality (HR 2.56, 95% CI 1.30-5.38). The impact of CAR on all-cause mortality was particularly significant in hypertensive patients. These findings highlight CAR's potential as a valuable biomarker for predicting asthma prevalence and mortality, underscoring its role in asthma management and prognostication.


Assuntos
Asma , Biomarcadores , Proteína C-Reativa , Humanos , Asma/mortalidade , Asma/sangue , Asma/epidemiologia , Feminino , Masculino , Proteína C-Reativa/metabolismo , Proteína C-Reativa/análise , Adulto , Pessoa de Meia-Idade , Biomarcadores/sangue , Inquéritos Nutricionais , Prevalência , Idoso , Modelos de Riscos Proporcionais , Albumina Sérica/análise , Adulto Jovem , Fatores de Risco
5.
Angew Chem Int Ed Engl ; 63(42): e202409150, 2024 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-39046732

RESUMO

Incorporating diverse components into metal-organic frameworks (MOFs) can expand their scope of properties and applications. Stratified MOFs (sMOFs) consist of compositionally unique concentric domains (strata), offering unprecedented complexity through partitioning of structural and functional components. However, the labile nature of metal-ligand coordination handicaps achieving compositionally distinct domains due to ligand exchange reactions occurring concurrently with secondary strata growth. To achieve complex sMOF compositions, characterizing and controlling the competing processes of new strata growth and ligand exchange are vital. This work systematically examines controlling ligand exchange in UiO-67 sMOFs by tuning ligand sterics. We present quantitative methods for assessing and visualizing the outcomes of strata growth and ligand exchange that rely on high-angle annular dark-field images and elemental mapping via scanning transmission electron microscopy-energy dispersive X-ray spectroscopy. In addition, we leverage ligand sterics to create 'blocking layers' that minimize ligand exchange between strata which are particularly susceptible to ligand exchange and inter-strata ligand mixing. Finally, we evaluate strata compositional integrity in various solvents and find that sMOFs can maintain their compositions for >12 months in some cases. Collectively, these studies and methods enhance understanding and control over ligand placement in multi-domain MOFs, factors that underscore careful tunning of properties and function.

6.
Curr Pharm Des ; 30(20): 1541-1547, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38706350

RESUMO

Selenium is an essential micronutrient required for the synthesis and function of selenoproteins, most of which are enzymes involved in maintaining oxidative balance in the body. Diabetes is a group of metabolic disorders characterized by high blood glucose levels over a prolonged period of time. There are three main types of diabetes: type 1, type 2, and gestational diabetes. This review summarizes recent advances in the field of diabetes research with an emphasis on the roles of selenoproteins on metabolic disturbance in diabetes. We also discuss the interaction between selenoproteins and glucose and lipid metabolism to provide new insights into the prevention and treatment of diabetes.


Assuntos
Selenoproteínas , Humanos , Selenoproteínas/metabolismo , Animais , Diabetes Mellitus/metabolismo , Diabetes Mellitus/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Hipoglicemiantes/farmacologia , Selênio/metabolismo
7.
Biol Trace Elem Res ; 202(1): 182-189, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37093510

RESUMO

The trace element selenium (Se) plays a key role in development and various physiological processes, mainly through its transformation into selenoproteins. To investigate the developmental patterns of Se content and expression of selenoproteins, the liver and longissimus dorsi (LD) muscle of Duroc pigs were collected at 1, 21, 80, and 185 days of age (7 pigs each age) for the determination of Se content, mRNA expression of selenoproteins, and concentrations of glutathione peroxidase (GPX), thioredoxin reductase (TrxR or TXNRD), and selenoprotein P (SELP). The results showed that age significantly affected the expression of GPX1, GPX2, GPX3, TXNRD1, TXNRD2, TXNRD3, iodothyronine deiodinases 2 (DIO2), DIO3, SELF, SELH, SELM, SELP, SELS, SELW, and selenophosphate synthetase2 (SPS2) in the liver, as well as GPX3, GPX4, TXNRD1, TXNRD2, DIO2, DIO3, SELF, SELN, SELP, SELR, SELS, and SELW in the LD muscle of Duroc pigs. The concentrations of GPX, TrxR, and SELP showed an increasing trend with age, and they were positively correlated with Se content at 1, 21, and 185 days of age and negatively correlated at 80 days of age, both in the liver and LD muscle. The Se content decreased at the age of 80 days, especially in the LD muscle. In summary, our study revealed developmental changes in Se content and expression of selenoproteins in the liver and LD muscle of Duroc pigs at different growth stages, which provided a theoretical basis for further study of Se nutrition and functions of selenoproteins.


Assuntos
Selênio , Animais , Suínos , Galinhas/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Selenoproteínas/genética , Selenoproteínas/metabolismo , Fígado/metabolismo , Selenoproteína P , Glutationa Peroxidase , Músculo Esquelético/metabolismo
8.
J Sep Sci ; 47(1): e2300233, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38010107

RESUMO

Lingbao Huxin Dan (LBHX) is an effective prescription for treating various cardiovascular diseases. However, its systematic chemical composition analysis and important marker components remain unclear, which hinders the development of standards or guidelines for quality evaluation. Herein, a high-resolution and efficient method was established to comprehensively investigate the chemical ingredients and metabolites of LBHX by using gas chromatography-tandem mass spectrometry and ultra-high-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry. AutoDock Vina was applied to conduct visual screening for identifying potential active compounds targeting two important sick sinus syndrome-associated proteins. As a result, 53 volatile compounds, as well as 191 non-volatile chemical components, including bufadienolides, diterpenoids, bile acids, phenolic acids, and triterpenoid saponins, were unambiguously characterized or tentatively identified. Fifty prototypes and 62 metabolites were identified in the plasma of rats, whilst metabolism reactions included phase I reactions (hydrolysis, oxidation, and hydroxylation) and phase II reactions (glucuronidation and methylation). Eleven compounds with good binding affinity have been observed by docking with key proteins. It is the first systematic study on the pharmacodynamic material basis of LBHX and the result consolidates the foundation for further study regarding the mechanism in treating cardiovascular diseases.


Assuntos
Doenças Cardiovasculares , Medicamentos de Ervas Chinesas , Ratos , Animais , Cromatografia Líquida de Alta Pressão/métodos , Ratos Sprague-Dawley , Cromatografia Gasosa-Espectrometria de Massas , Espectrometria de Massas em Tandem/métodos , Medicamentos de Ervas Chinesas/análise
9.
ACS Appl Mater Interfaces ; 16(1): 1361-1369, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38147588

RESUMO

Single-walled carbon nanotube (SWCNT)@metal-organic framework (MOF) field-effect transistor (FET) sensors generate a signal through analytes restricting ion diffusion around the SWCNT surface. Four composites made up of SWCNTs and UiO-66, UiO-66-NH2, UiO-67, and UiO-67-CH3 were synthesized to explore the detection of norfentanyl (NF) using SWCNT@MOF FET sensors with different pore sizes. Liquid-gated FET devices of SWCNT@UiO-67 showed the highest sensing response toward NF, whereas SWCNT@UiO-66 and SWCNT@UiO-66-NH2 devices showed no sensitivity improvement compared to bare SWCNT. Comparing SWCNT@UiO-67 and SWCNT@UiO-67-CH3 indicated that the sensing response is modulated by not only the size-matching between NF and MOF channel but also NF diffusion within the MOF channel. Additionally, other drug metabolites, including norhydrocodone (NH), benzoylecgonine (BZ), and normorphine (NM) were tested with the SWCNT@UiO-67 sensor. The sensor was not responding toward NH and or BZ but a similar sensing result toward NM because NM has a similar size to NF. The SWCNT@MOF FET sensor can avoid interference from bigger molecules but sensor arrays with different pore sizes and chemistries are needed to improve the specificity.

10.
Pharmacogenomics ; 24(18): 931-942, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38019119

RESUMO

Aims: To evaluate the association between SLCO1B1 gene polymorphisms and susceptibility of antituberculosis drug-induced hepatotoxicity (ATDH). Methods: We searched the PubMed, Cochrane Library, Embase, Web of Science, Wan Fang and China National Knowledge Infrastructure database from inception to 2022. Results: Nine case-control studies with 1129 cases and 2203 controls were included. Among four SNPs reported in two or more studies, the final results indicated that SNP rs4149014 was significantly associated with decreased ATDH risk (dominant model, odds ratio: 0.73; 95% CI: 0.55-0.97; p = 0.03; allele model, odds ratio: 0.69; 95% CI: 0.55-0.86; p = 0.001), and the trial sequential analysis also confirmed this significant association. Conclusion: SLCO1B1 gene SNP rs4149014 was significantly associated with lower risk of ATDH susceptibility.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas , Predisposição Genética para Doença , Humanos , Genótipo , Antituberculosos/efeitos adversos , Polimorfismo de Nucleotídeo Único/genética , Alelos , Doença Hepática Induzida por Substâncias e Drogas/epidemiologia , Doença Hepática Induzida por Substâncias e Drogas/genética , Transportador 1 de Ânion Orgânico Específico do Fígado/genética
11.
NPJ Biofilms Microbiomes ; 9(1): 62, 2023 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-37666845

RESUMO

Diarrhea is characterized by alterations in the gut microbiota, metabolites, and host response to these changes. Studies have focused on the role of commensal bacteria in diarrhea; however, the effect of fungi on its pathogenesis remains unexplored. Here, using post-weaned piglets with or without diarrhea, we found an unexpected decrease in the abundance of Candida tropicalis in diarrheal piglets. We also observed increased accumulation of reactive oxygen species (ROS) and the formation of neutrophil extracellular traps (NETs) in the colonic tissues of diarrheal piglets. Using dectin-1-knockout mice, we found that the over-accumulation of ROS killed C. tropicalis by promoting NET formation, which was dependent on dectin-1. The decreased abundance of C. tropicalis resulted in reduced phosphocholine consumption. Then, colonic phosphocholine accumulation drives water efflux by increasing cAMP levels by activating adenylyl cyclase, which promotes the clearance of pathogenic bacteria. Collectively, we demonstrated that phosphocholine is correlated with colonic C. tropicalis and promotes diarrhea and pathogen clearance. Our results suggest that mycobiota colonizing the colon might be involved in maintaining intestinal metabolic homeostasis through the consumption of certain metabolites.


Assuntos
Candida tropicalis , Fosforilcolina , Animais , Suínos , Camundongos , Espécies Reativas de Oxigênio , Colo , Diarreia/veterinária , Camundongos Knockout
12.
J Anim Sci ; 1012023 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-37358243

RESUMO

Probiotics, such as Lactobacillus and Bifidobacterium, promote growth in piglets by modulating gut microbiota composition and improving the host immune system. A strain of Lactobacillus sp. and Bifidobacterium thermacidophilum were previously isolated from fresh feces of Tibetan pigs. The effects of these isolated strains on growth performance, intestinal morphology, immunity, microbiota composition, and their metabolites were evaluated in weaned piglets. Thirty crossbred piglets were selected and fed either a basal diet (CON), a basal diet supplemented with aureomycin (ANT), or a basal diet supplemented with Lactobacillus sp. and B. thermacidophilum (LB) for 28 d. The piglets in the ANT and LB groups had significantly higher body weight gain than those in the CON group (P < 0.05). Piglets in the ANT and LB groups had regularly arranged villi and microvilli in the small intestine. Furthermore, they had improved immune function, as indicated by decreased serum concentrations of inflammatory cytokines (P < 0.05), improved components of immune cells in the blood, mesenteric lymph nodes, and spleen. Additionally, metagenomic sequencing indicated a significant shift in cecal bacterial composition and alterations in microbiota functional profiles following Lactobacillus sp. and B. thermacidophilum supplementation. Metabolomic results revealed that the metabolites were also altered, and Kyoto Encyclopedia of Genes and Genomes analysis revealed that several significantly altered metabolites were enriched in glycerophospholipid and cholesterol metabolism (P < 0.05). Furthermore, correlation analysis showed that several bacterial members were closely related to the alterations in metabolites, including Bacteroides sp., which were negatively correlated with triglyceride (16:0/18:0/20:4[5Z,8Z,11Z,14Z]), the metabolite that owned the highest variable importance of projection scores. Collectively, our findings suggest that combined supplementation with Lactobacillus sp. and B. thermacidophilum significantly improved the growth performance, immunity, and microbiota composition in weaned piglets, making them prospective alternatives to antibiotics in swine production.


Probiotics such as Lactobacillus and Bifidobacterium have growth- and immunity-promoting effects in piglets. Thirty weaned piglets were selected and fed either a basal diet, a basal diet supplemented with aureomycin, or a basal diet supplemented with Lactobacillus sp. and Bifidobacterium thermacidophilum isolated from Tibetan pigs for 28 d. The results showed that combined supplementation with B. thermacidophilum and Lactobacillus sp. significantly improved growth performance, intestinal morphology, and immunity in weaned piglets, which is similar to piglets treated with antibiotics. They also improved cecal bacterial composition as indicated by the metagenomic sequencing results. Metabolomic results revealed that the altered metabolites were primarily enriched in glycerophospholipid and cholesterol metabolism. Correlation analysis showed that many bacterial members were closely related to the alterations of metabolites, suggesting B. thermacidophilum and Lactobacillus sp. exert effects via bacterial metabolism. Thus, Lactobacillus sp. and B. thermacidophilum could potentially be used as a prospective alternative of antibiotic growth promoters in piglets.


Assuntos
Lactobacillus , Microbiota , Animais , Suínos , Estudos Prospectivos , Tibet , Suplementos Nutricionais , Bifidobacterium , Desmame
13.
Sci China Life Sci ; 66(11): 2466-2514, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37286860

RESUMO

Dietary nutrients and the gut microbiota are increasingly recognized to cross-regulate and entrain each other, and thus affect host health and immune-mediated diseases. Here, we systematically review the current understanding linking dietary nutrients to gut microbiota-host immune interactions, emphasizing how this axis might influence host immunity in health and diseases. Of relevance, we highlight that the implications of gut microbiota-targeted dietary intervention could be harnessed in orchestrating a spectrum of immune-associated diseases.


Assuntos
Microbioma Gastrointestinal , Microbioma Gastrointestinal/fisiologia , Nutrientes , Dieta
14.
ACS Appl Mater Interfaces ; 15(19): 23337-23342, 2023 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-37141279

RESUMO

Adsorption-based capture of CO2 from flue gas and from air requires materials that have a high affinity for CO2 and can resist water molecules that competitively bind to adsorption sites. Here, we present a core-shell metal-organic framework (MOF) design strategy where the core MOF is designed to selectively adsorb CO2, and the shell MOF is designed to block H2O diffusion into the core. To implement and test this strategy, we used the zirconium (Zr)-based UiO MOF platform because of its relative structural rigidity and chemical stability. Previously reported computational screening results were used to select optimal core and shell MOF compositions from a basis set of possible building blocks, and the target core-shell MOFs were prepared. Their compositions and structures were characterized using scanning electron microscopy, transmission electron microscopy, and powder X-ray diffraction. Multigas (CO2, N2, and H2O) sorption data were collected both for the core-shell MOFs and for the core and shell MOFs individually. These data were compared to determine whether the core-shell MOF architecture improved the CO2 capture performance under humid conditions. The combination of experimental and computational results demonstrated that adding a shell layer with high CO2/H2O diffusion selectivity can significantly reduce the effect of water on CO2 uptake.

15.
Pharmacogenomics ; 24(6): 345-357, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-37166414

RESUMO

Aim: To evaluate the effects of genetic variants in the nuclear factor erythroid 2-related factor 2/antioxidant reaction element signaling pathway on antituberculosis drug-induced liver injury (AT-DILI) susceptibility. Methods: The PubMed, Embase, Cochrane, Web of Science, China National Knowledge Infrastructure and Wanfang databases were searched from inception to April 2022. Results: Seven case-control studies with 4676 patients were included. Six genes with 35 SNPs in the pathway have been reported. Among 17 SNPs reported in two or more studies, the meta-analysis indicated that only one SNP (rs3735656 in MAFK) was significantly associated with a decreased risk for AT-DILI under the dominant model (odds ratio: 0.636; 95% CI: 0.519-0.780; p < 0.001). Conclusion: SNP rs3735656 in the MAFK gene was significantly associated with the risk of AT-DILI.


Assuntos
Antioxidantes , Doença Hepática Induzida por Substâncias e Drogas , Humanos , Estudos de Casos e Controles , Doença Hepática Induzida por Substâncias e Drogas/genética , China , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Fator 2 Relacionado a NF-E2
16.
J Med Genet ; 60(10): 939-950, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37012052

RESUMO

BACKGROUND: Although retinitis pigmentosa (RP) is the most common type of hereditary retinal dystrophy, approximately 25%-45% of cases remain without a molecular diagnosis. von Willebrand factor A domain containing 8 (VWA8) encodes a mitochondrial matrix-targeted protein; its molecular function and pathogenic mechanism in RP remain unexplained. METHODS: Family members of patients with RP underwent ophthalmic examinations, and peripheral blood samples were collected for exome sequencing, ophthalmic targeted sequencing panel and Sanger sequencing. The importance of VWA8 in retinal development was demonstrated by a zebrafish knockdown model and cellular and molecular analysis. RESULTS: This study recruited a Chinese family of 24 individuals with autosomal-dominant RP and conducted detailed ophthalmic examinations. Exome sequencing analysis of six patients revealed heterozygous variants in VWA8, namely, the missense variant c.3070G>A (p.Gly1024Arg) and nonsense c.4558C>T (p.Arg1520Ter). Furthermore, VWA8 expression was significantly decreased both at the mRNA and protein levels. The phenotypes of zebrafish with VWA8 knockdown are similar to those of clinical individuals harbouring VWA8 variants. Moreover, VWA8 defects led to severe mitochondrial damage, resulting in excessive mitophagy and the activation of apoptosis. CONCLUSIONS: VWA8 plays a significant role in retinal development and visual function. This finding may provide new insights into RP pathogenesis and potential genes for molecular diagnosis and targeted therapy.


Assuntos
Retinose Pigmentar , Peixe-Zebra , Animais , Humanos , Mitofagia/genética , Mutação/genética , Linhagem , Retinose Pigmentar/diagnóstico , Peixe-Zebra/genética
17.
J Oral Microbiol ; 15(1): 2196897, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37035450

RESUMO

Bacterial adhesion to dental materials' surfaces is the initial cause of dental materials-related infections. Therefore, inhibiting bacterial adhesion is a critical step in preventing and controlling these infections. To this end, it is important to know how the properties of dental materials affect the interactions between microorganisms and material surfaces to produce materials without biological contamination. This manuscript reviews the mechanism of bacterial adhesion to dental materials, the relationships between their surface properties and bacterial adhesion, and the impact of bacterial adhesion on their surface properties. In addition, this paper summarizes how these surface properties impact oral biofilm formation and proposes designing intelligent dental material surfaces that can reduce biological contamination.

18.
Pharmgenomics Pers Med ; 16: 173-181, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36923242

RESUMO

Background: Congenital heart disease (CHD) is the most common birth defect with strong genetic heterogeneity. To date, about 400 genes have been linked to CHD, including cell signaling molecules, transcription factors, and structural proteins that are important for heart development. Genetic analysis of CHD cases is crucial for clinical management and etiological analysis. Methods: Whole-exome sequencing (WES) was performed to identify the genetic variants in two independent CHD cases with DNA samples from fetuses and their parents, followed by the exclusion of aneuploidy and large copy number variations (CNVs). The WES results were verified by Sanger sequencing. Results: In family A, a compound heterozygous variation in PLD1 gene consisting of c.1132dupA (p.I378fs) and c.1171C>T (p.R391C) was identified in the fetus. The two variants were inherited from the father (c.1132dupA) and the mother (c.1171C>T), respectively. In family B, a hemizygous variant ZIC3: c.861delG (p.G289Afs*119) was identified in the fetus, which was inherited from the heterozygous mother. We further confirmed that these variants PLD1: c.1132dupA and ZIC3: c.861delG were novel. Conclusion: The findings in our study identified novel variants to the mutation spectrum of CHD and provided reliable evidence for the recurrent risk and reproductive care options to the affected families. Our study also demonstrates that WES has considerable prospects of clinical application in prenatal diagnosis.

19.
Water Sci Technol ; 87(4): 866-878, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36853767

RESUMO

The mechanical washing wastewater contained a large amount of oil, and the iron wrapped in the oil was slowly released into water. This caused the effluent quality to fluctuate, causing common polymeric aluminum chloride (PAC) to ineffectively remove the water-in-oil. The method uses Ca2+ to demulsify and ClOx- to destroy the water-in-oil structure, which releases Fe from the oil droplets. The active oxygen produced by NaClOx further converts Fe2+ into Fe3+ and then combines with NaOH to form Fe(OH)3-flocs core, which improves the flocculation efficiency of PAC. The optimal ratio was approximately 400 µL of NaClOx, 200 µL of 1 mol L-1 CaO, and 12 mL of 12.8 g L-1 PAC. The oil removal rate reached 99.88% and the residue density was 178.42 mg L-1. The maximum Fe and chemical oxygen demand (COD) removal rates were close to 49.2 and 99.89%, respectively. In field applications, wastewater should be acidified first, and acidification oxidation is more effective than direct oxidation. In short, a novel way for treating mechanically washed wastewater with iron-in-oil characteristics by changing the environmental fate of iron is provided.


Assuntos
Ferro , Águas Residuárias , Cloreto de Alumínio , Bioensaio , Polímeros , Água
20.
J Xray Sci Technol ; 31(2): 223-235, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36591693

RESUMO

BACKGROUND: Cardiogenic embolism (CE) and large-artery atherosclerosis embolism (LAA) are the two most common ischemic stroke (IS) subtypes. OBJECTIVE: In order to assist doctors in the precise diagnosis and treatment of patients, this study proposed an IS subtyping method combining convolutional neural networks (CNN) and radiomics. METHODS: Firstly, brain embolism regions were segmented from the computed tomography angiography (CTA) images, and radiomics features were extracted; Secondly, the extracted radiomics features were optimized with the L2 norm, and the feature selection was performed by combining random forest; then, the CNN Cap-UNet was built to extract the deep learning features of the last layer of the network; Finally, combining the selected radiomics features and deep learning features, 9 small-sample classifiers were trained respectively to build and select the optimal IS subtyping classification model. RESULTS: The experimental data include CTA images of 82 IS patients diagnosed and treated in Shanghai Sixth People's Hospital. The AUC value and accuracy of the optimal subtyping model based on the Adaboost classifier are 0.9018 and 0.8929, respectively. CONCLUSION: The experimental results show that the proposed method can effectively predict the subtype of IS and has potential to assist doctors in making timely and accurate diagnoses of IS patients.


Assuntos
AVC Isquêmico , Humanos , China , Tomografia Computadorizada por Raios X/métodos , Redes Neurais de Computação , Angiografia por Tomografia Computadorizada
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