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1.
Heliyon ; 10(8): e29488, 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38699752

RESUMEN

Objective: At present, there remains controversy regarding the clinical efficacy of Corbrin (Bailing) capsules in the treatment of renal insufficiency (RI). A meta-analytic approach was adopted in this study to assess the clinical efficacy of Corbrin capsules for treating RI, aiming to provide a certain level of clinical evidence to guide the selection of RI therapeutic interventions. Methods: The meta-analysis was conducted on databases containing PubMed, CNKI, Weipu Database, Cochrane Library and Wanfang until January 2023. The search for relevant studies was conducted without language restrictions. The study encompassed a randomized controlled trial that examined the efficacy of Corbrin capsules in treating RI. Blood urea nitrogen (BUN), serum creatinine (Scr), 24-h urine protein quantity (24 h UPQ), and estimated creatinine clearance (ECC) were amalgamated using standardized mean difference (SMD) and its corresponding 95 % confidence interval (CI). Meanwhile, the treatment effect (TE) outcome was aggregated using odds ratio (OR) and its corresponding 95 % CI. To evaluate heterogeneity, the Q test and I2 statistics were employed within a random-effects model framework. Results: A total of 11 eligible articles were included, involving 1100 patients (594 in the Corbrin capsule group and 516 in the control group). Compared with control subjects, the SMD was-1.3532 for Ser (95 % CI: 2.0617 to -0.6448), -1.7868 for UPQ (95 % CI: 2.8901 to -0.6836), -1.3302 for BUN (95 % CI: 2.2428 to -0.4176), and 1.7842 for ECC (95 % CI: 0.6774-2.8910). TE had an OR of 1.9786 (95 % CI: 0.7153-5.4734), and publications were not found to be biased (t = 0.5627, P = 0.6738). Conclusion: In RI patients, Corbrin capsule has a relatively good therapeutic effect.

2.
ACS Biomater Sci Eng ; 9(8): 5084-5096, 2023 08 14.
Artículo en Inglés | MEDLINE | ID: mdl-37489944

RESUMEN

Titanium alloy porous scaffolds possess excellent mechanical properties and biocompatibility, making them promising for applications in bone tissue engineering. The integration of triply periodic minimal surface (TPMS) with porous scaffolds provides a structural resemblance to the trabecular and cortical bone structures of natural bone tissue, effectively reducing stress-shielding effects, enabling the scaffold to withstand complex stress environments, and facilitating nutrient transport. In this study, we designed fused porous scaffolds based on the Gyroid and Diamond units within TPMS and fabricated samples using selective laser melting technology. The effects of the rotation direction and angle of the inner-layer G unit on the elastic modulus of the fused TPMS porous scaffold were investigated through quasi-static compression experiments. Furthermore, the influence of the rotation direction and angle of the inner-layer G unit on the permeability, pressure, and flow velocity of the fused TPMS porous scaffold structure was studied using computational fluid dynamics (CFD) based on the Navier-Stokes model. The quasi-static compression experiment results demonstrated that the yield strength of the fused TPMS porous scaffold ranged from 367.741 to 419.354 MPa, and the elastic modulus ranged from 10.617 to 11.252 GPa, exhibiting stable mechanical performance in different loading directions. The CFD simulation results indicated that the permeability of the fused TPMS porous scaffold model ranged from 5.70015 × 10-8 to 6.33725 × 10-8 m2. It can be observed that the fused porous scaffold meets the requirements of the complex stress-bearing demands of skeletal structures and complies with the permeability requirements of human bone tissue.


Asunto(s)
Rayos Láser , Humanos , Porosidad , Estrés Mecánico , Fuerza Compresiva , Ensayo de Materiales , Permeabilidad
3.
Animals (Basel) ; 13(10)2023 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-37238005

RESUMEN

Takifugu obscurus has relatively small gills and gill pores, leading to a relatively low respiratory capacity and increased vulnerability to low dissolved oxygen (DO) levels compared to other fish. To investigate the responses of T. obscurus to acute hypoxic stress, high-throughput-sequencing-based transcriptomic analyses were conducted here to assess the responses of T. obscurus gills to acute hypoxic stress. Three environmental conditions were compared including normoxia (DO: 7.0 ± 0.2 mg/L), hypoxic stress (DO: 0.9 ± 0.2 mg/L), and reoxygenation (4, 8, 12, and 24 h after return to normoxia) conditions to identify differentially expressed genes (DEGs) responsive to hypoxia. A total of 992, 877, 1561, 1412, and 679 DEGs were identified in the normoxia and reoxygenation for 4, 8, 12, and 24 h groups in comparison to the hypoxia groups, respectively. The DEGs were primarily associated with oxidative stress, growth and development, and immune responses. Further functional annotation enrichment analysis of the DEGs revealed that they were primarily related to cytokine-cytokine interactions, transforming growth factor ß receptor (TGF-ß), cell adhesion molecules (CAMs), the vascular endothelial growth factor (VEGF) signaling pathway, and the mitogen-activated protein kinase (MAPK) signaling pathway. These results provide new insights into the physiological and biochemical mechanisms of T. obscurus adaptations to hypoxic stress. Furthermore, these results provide a framework for future studies into the molecular mechanisms of hypoxia tolerance and the healthy culture of T. obscurus and other fish.

4.
Foods ; 12(6)2023 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-36981079

RESUMEN

Ginseng, a kind of functional food and medicine with high nutritional value, contains various pharmacological metabolites that influence human metabolic functions. Therefore, it is very important to analyze the composition and metabolites of ginseng. However, the analysis of active metabolites in ginseng samples usually involves various experimental steps, such as extraction, chromatographic separation, and characterization, which may be time-consuming and laborious. In this study, an internal extractive electrospray ionization mass spectrometry (iEESI-MS) method was developed to analyze active metabolites in ginseng samples with sequential sampling and no pretreatment. A total of 44 metabolites, with 32 ginsenosides, 6 sugars, and 6 organic acids, were identified in the ginseng samples. The orthogonal partial least-squares discriminant analysis (OPLS-DA) score plot showed a clear separation of ginseng samples from different origins, indicating that metabolic changes occurred under different growing conditions. This study demonstrated that different cultivation conditions of ginseng can be successfully discriminated when using iEESI-MS-based metabolite fingerprints, which provide an alternative solution for the quality identification of plant drugs.

5.
RSC Adv ; 12(39): 25722-25743, 2022 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-36199307

RESUMEN

Solid-state hydrogen storage based on metal hydrides is considered a promising method for hydrogen storage. However, the low inherent thermal conductivity of metal hydride powder significantly limits the hydrogenation/dehydrogenation process in the metal hydride bed. Accurate measurement and improvement of the effective thermal conductivity of a hydride bed is of great significance for design of solid-state hydrogen storage devices. This article analyzes the factors that influence the effective thermal conductivity of a metal hydride bed, and also introduces different measurement methods and improvement ways for the effective thermal conductivity of a metal hydride bed. It is an effective way to improve the thermal conductivity of metal hydride beds by hydride powder mixed with a high thermal conductivity material and compaction. Accurately measuring the influence of hydrogen pressure, temperature and hydrogen storage capacity and other factors on the effective thermal conductivity of a metal hydride bed and obtaining the numerical equation of effective thermal conductivity play an important role in guiding the optimization design of heat and mass transfer structure of metal hydride hydrogen storage devices. The transient plane source method seems to be a better measurement choice because of short test time and easy to establish a pressure-tight and temperature control test system. However, there is still a lack of testing standards for the thermal conductivity of the hydride bed, as well as suggestions for the selection of test methods, improvement ways and design of in situ test room.

6.
Diabetes Ther ; 13(5): 969-981, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35312971

RESUMEN

INTRODUCTION: Cardiovascular disease (CVD) is the leading cause of death in Chinese adults with type 2 diabetes (T2D), and treatment guidelines have increasingly focused on the comprehensive management of T2D and CVD. Here, we report data from the Chinese population within the CAPTURE study, including CVD prevalence in patients with T2D and insights into their management. METHODS: CAPTURE (a multinational, non-interventional, cross-sectional study in adults with T2D) included data from eight centers in China from July to September 2019. Overall CVD prevalence estimates were calculated, and descriptive data regarding CVD subtypes and treatment were collected and reported here. RESULTS: Of 805 adults with T2D enrolled in China (61.9% male, median age 59 years), 273 had established CVD, with an estimated prevalence (95% CI) of 33.9% (30.6%, 37.3%). Most CVD cases were atherosclerotic (94.9%). Coronary heart disease had the highest estimated prevalence (16.0%), followed by carotid artery disease (9.6%) and cerebrovascular disease (7.7%). Use of glucose-lowering agents (GLAs) with proven cardiovascular benefits (glucagon-like peptide-1 receptor agonists and/or sodium-glucose cotransporter-2 inhibitors) was low in the China sample (7.7%). Approximately half of the CVD subgroup in the China sample was receiving cardiovascular medication, but use of guideline-directed agents was low (e.g., statins: 35.9%; angiotensin II receptor blockers: 15%; angiotensin-converting enzyme inhibitors: 2.6%). CONCLUSIONS: In the Chinese CAPTURE population, one-third of patients had established CVD, with atherosclerotic CVD largely accounting for the CVD burden; use of GLAs with proven cardiovascular benefits and cardiovascular medications was low, suggesting an unmet need for optimal management in this group.

7.
Heart Lung ; 50(6): 863-869, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34340134

RESUMEN

BACKGROUND: Studies evaluating the association of blood level of N-terminal pro-brain natriuretic peptide (NT-proBNP) with adverse prognosis have yielded conflicting results in patients with acute myocardial infarction (AMI). This meta-analysis sought to evaluate the prognostic value of blood level of NT-proBNP in patients with AMI. METHODS: Two authors independently searched articles in PubMed and Embase databases up to June 13, 2021. Studies evaluating the association of baseline NT-proBNP level with all-cause mortality or major adverse cardiovascular events (MACEs, including death, new or worsening heart failure, recurrent myocardial infarction, revascularization, stroke, etc.) among AMI patients were selected. Multivariable-adjusted risk ratio (RR) with 95% confidence interval (CI) was pooled by the highest vs. lowest category of NT-proBNP level. RESULTS: A total of 19 studies enrolling 12,158 AMI patients were identified. When compared highest with the lowest category of NT-proBNP level, the pooled RR was 5.28 (95% CI 2.87-9.73) for in-hospital/30-day death, 2.62 (95% CI 2.04-3.37) for follow-up all-cause mortality, and 2.50 (95% CI 1.91-3.28) for follow-up MACEs, respectively. Subgroup analysis further confirmed the value of NT-proBNP in predicting all-cause mortality and MACEs. CONCLUSIONS: Elevated NT-proBNP level is independently associated with an increased risk of all-cause mortality and MACEs. Determination of blood NT-proBNP level can improve risk stratification of AMI patients.


Asunto(s)
Infarto del Miocardio , Péptido Natriurético Encefálico , Biomarcadores , Humanos , Fragmentos de Péptidos , Pronóstico , Medición de Riesgo
8.
Anal Bioanal Chem ; 413(23): 5799-5810, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34331087

RESUMEN

Porcine reproductive and respiratory syndrome virus (PRRSV) has caused worldwide economic losses in the swine industry. Pigs infected with highly pathogenic (HP)-PRRSV display more severe symptoms than those infected with classical (C)-PRRSV. A rapid, sensitive, and reliable detection method to distinguish between HP-PRRSV and C-PRRSV is needed. In this study, we prepared a monoclonal antibody from a hybridoma that can distinguish HP-PRRSV(including TP, QJ, LQ, JN-HS, and TY strain) from C-PRRSV (CH-1A strain) using cell surface-fluorescence immunosorbent assays (CSFIA). Based on this monoclonal antibody (4D5), we developed a europium microsphere-based lateral flow immunochromatographic strip (EuNPs-LFICS) for the differential diagnostic detection of HP-PRRSV and C-PRRSV. Under optimized conditions, the method was rapid (15 min), sensitive (LOD: 2.57 ng mL-1, 606 TCID50/0.1 mL), selective for HP-PRRSV detection, and quantitative (DLR: 3.56-228 ng mL-1). In clinical samples, the EuNPs-LFICS assay was largely consistent with PCR results, indicating its practical clinical application.


Asunto(s)
Anticuerpos Monoclonales/química , Europio/química , Técnica del Anticuerpo Fluorescente/métodos , Colorantes Fluorescentes/química , Nanopartículas del Metal/química , Síndrome Respiratorio y de la Reproducción Porcina/diagnóstico , Virus del Síndrome Respiratorio y Reproductivo Porcino/aislamiento & purificación , Animales , Línea Celular , Diagnóstico Diferencial , Ratones , Ratones Endogámicos BALB C , Porcinos
10.
Medicine (Baltimore) ; 98(23): e15771, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31169675

RESUMEN

BACKGROUND: Previous studies identified conflicting results about the effects of wine intake on glucose parameters and the risk of cardiovascular diseases in type 2 diabetes mellitus (T2DM). The present study further investigated the association between wine digestion and these outcomes in T2DM patients. MATERIAL AND METHODS: A search of PubMed, Embase, and Scopus databases (up to November 2018) was performed for randomized interventional trials which evaluated the effect of wine on blood pressure (BP), glucose parameters and lipid profiles in T2DM people. We used a variety of tests: fixed and random effects models, Q Cochrane test and I index, Egger and Begg tests, forest plots, and sensitivity analysis in our study. RESULTS: A total of 9 randomized interventional studies were included in this meta-analysis. Overall, significant association between wine intake with diastolic BP (weighted mean difference [WMD] = 0.10; 95% confidence interval [95% CI]: -0.01 to 0.20, P = .03 I = 13%) and total cholesterol (TC) (WMD = 0.16, 95% CI: 0.02-0.31, P = .03, I = 6%), whereas no noticeable differences in glucose parameters, systolic BP, low-density lipoprotein cholesterol (LDLC), triglyceride (TG) and high-density lipoprotein cholesterol (HDLC) were identified between wine and controls groups (fasting glucose [FG],WMD = -0.00, 95% CI: -0.58 to 0.58; fasting insulin [FI], -0.22, -2.09 to 1.65; HbAc1%, -0.16, -0.40 to 0.07; systolic blood pressure, 0.12, -0.05 to 0.28; LDLC, -0.02, -0.25 to 0.21; TG, -0.34, -1.31 to 0.64; HDLC, 0.22, -0.08 to 0.53]. CONCLUSION: This meta-analysis revealed that moderate wine consumption among T2DM patients could reduce the level of diastolic blood pressure and TC, but not glucose parameters and other cardiovascular risk factors.


Asunto(s)
Glucemia/metabolismo , Presión Sanguínea/fisiología , Diabetes Mellitus Tipo 2/sangre , Lípidos/sangre , Vino/efectos adversos , Adulto , Anciano , Anciano de 80 o más Años , HDL-Colesterol/sangre , LDL-Colesterol/sangre , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ensayos Clínicos Controlados Aleatorios como Asunto , Adulto Joven
11.
Poult Sci ; 98(10): 4522-4529, 2019 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-31127838

RESUMEN

This work studied the effect of age at photostimulation on reproductive performance of Beijing-You Chicken (BYC) breeders. A total of 384 fourteen-week-old BYC breeder hens were randomly allocated to 4 treatments of 96 birds each, with 2 replicates per treatment. The treatments represent photostimulation at 16, 18, 20, and 22 wk of age, respectively (PS16, PS18, PS20, and PS22) by incrementally increasing day length from 8L:16D to 14L:10D and by increasing lighting intensity from 10 to 80 lx. Egg production was recorded for each replicate until 51 wk. Four birds randomly selected from each treatment were sacrificed to characterize sexual organ development at 4 time points: 1 D before photostimulation and 2, 4, and 6 wk after photostimulation. Eggshell quality at peak laying was measured. The results showed that the changes in ovary and oviduct weight in PS22 were 8.68- and 4.27-fold higher than in PS16 at 6 wk after photostimulation. PS16 had an earlier age at 5% egg production than PS20 and PS22 (P = 0.003). The interval from photostimulation to age at 5% egg production in PS20 and PS22 was shorter than in other treatments (P = 0.005). Later peak egg production was seen in PS20 (211.0 D) and PS22 (218.0 D) than in PS16 (183.0 D) and PS18 (190.0 D, P = 0.020), but the laying rate of PS20 decreased slowly after peak laying. PS20 and PS22 had higher egg weights than PS16 and PS18 at peak laying (P = 0.018). Age at photostimulation had no effect on egg number, defective egg number, or hatchability (P > 0.05). In summary, the onset of lay can be advanced by photostimulation at early ages, but there is no difference on egg production until 51 wk. Photostimulation at 20 wk improves peak of laying and laying uniformity.


Asunto(s)
Cáscara de Huevo/efectos de la radiación , Fertilidad/efectos de la radiación , Luz , Iluminación , Reproducción/efectos de la radiación , Animales , Pollos/fisiología , Cáscara de Huevo/fisiología , Femenino , Distribución Aleatoria , Maduración Sexual/efectos de la radiación , Factores de Tiempo
12.
Poult Sci ; 98(4): 1833-1841, 2019 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-30452707

RESUMEN

The beak is the dominant avian facial feature, and beak deformity occurs in 0.5 to 2.5% of some indigenous chicken breeds, resulting in difficulties when eating, drinking, and performing natural behaviors. Previous studies on beak deformity focused largely on candidate molecules associated with skeletogenic development, providing insight into the molecular and genetic underpinnings of beak deformity. The present study was performed to identify candidate proteins related to this malformation in chickens. Three 12-day-old Beijing-You roosters with deformed beaks (D1, D2, and D3) and 3 with normal beaks (N1, N2, and N3) were used, and total beak proteins were isolated and subjected to standard iTRAQ labeling, strong cation-exchange chromatography, and liquid chromatography-tandem mass spectrometry. Mascot 2.3.02 was used to identify and quantitatively analyze proteins. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were used to identify functions and metabolic pathways of differentially expressed proteins, and key proteins were further validated using western blot. A total of 2,370, 2,401, and 2,378 proteins were reliably quantified in 3 biological replicates, among which, 2,345 were common to all, and 92 were differentially expressed between the 2 groups. These included 37 upregulated and 55 downregulated proteins in deformed beaks. Pentraxin-related protein 3, hemopexin, lipoprotein lipase, retinoid-binding protein 7, and biliverdin reductase A were downregulated in all 3 sets, while parvalbumin, peptidyl-prolyl cis-trans isomerase, and ubiquitin-fold modifier 1 were upregulated. Pathway analysis returned no enriched pathways, and western blot validated the iTRAQ results. Parvalbumin and lipoprotein lipase could be firstly selected as key proteins in view of their known functions in regulating the buffering of intracellular free Ca2+ in both cartilage and bone cells and bone mass, respectively. Their potential roles in beak deformity, however, deserve further studies. In summary, the onset of beak deformity could be very complex, and this study will be helpful for future investigation of mechanistic explanation for beak deformity.


Asunto(s)
Proteínas Aviares/genética , Pollos/anomalías , Pollos/genética , Proteoma/genética , Animales , Proteínas Aviares/metabolismo , Pico/anomalías , Pico/metabolismo , Pollos/metabolismo , Ontología de Genes , Proteoma/metabolismo , Proteómica
13.
BMC Genomics ; 19(1): 501, 2018 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-29954329

RESUMEN

BACKGROUND: Beak deformity, typically expressed as the crossing of upper and lower mandibles, is found in several indigenous chicken breeds, including the Beijing-You chickens studied here. Beak deformity severely impairs the birds' growth and welfare. Although previous studies shed some light on the genetic regulation of this complex trait, the genetic basis of this malformation remains incompletely understood. RESULTS: In this study, single SNP- and pathway-based genome-wide association studies (GWASs) were performed using ROADTRIPS and SNP ratio test (SRT), respectively. A total of 48 birds with deformed beaks (case) and 48 normal birds (control) were genotyped using Affymetrix 600 K HD genotyping arrays. As a result, 95 individuals and 429,539 SNPs were obtained after quality control. The P-value was corrected by a Bonferroni adjustment based on linkage disequilibrium pruning. The single SNP-based association study identified one associated SNP with 5% genome-wide significance and seven suggestively associated SNPs. Four high-confidence genes, LOC421892, TDRD3, RET, and STMN1, were identified as the most promising candidate genes underlying this complex trait in view of their positions, functions, and overlaps with previous studies. The pathway-based association study highlighted the association of six pathways with beak deformity, including the calcium signaling pathway. CONCLUSIONS: Potentially useful candidate genes and pathways for beak deformity were identified, which should be the subject of further functional characterization.


Asunto(s)
Pico/metabolismo , Pollos/genética , Estudio de Asociación del Genoma Completo , Redes y Vías Metabólicas/genética , Animales , Pico/anomalías , Genotipo , Polimorfismo de Nucleótido Simple
14.
RSC Adv ; 9(1): 408-428, 2018 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-35521580

RESUMEN

Magnesium hydride and its compounds have a high hydrogen storage capacity and are inexpensive, and thus have been considered as one of the most promising hydrogen storage materials for on-board applications. Nevertheless, Mg/MgH2 systems suffer from great drawbacks in terms of kinetics and thermodynamics for hydrogen uptake/release. Over the past decades, although significant progress has been achieved with respect to hydrogen sorption kinetics in Mg/MgH2 systems, their high thermal stability remains the main drawback, which hinders their practical applications. Accordingly, herein, we present a brief summary of the synthetic routes and a comprehensive overview of the advantages and disadvantages of the promising strategies to effectively tune the thermodynamics of Mg-based materials, such as alloying, nanostructuring, metastable phase formation, changing reaction pathway, and nano Mg-based composites. Among them nanostructuring and metastable phase formation, which have the superiority of changing the thermodynamics without affecting the hydrogen capacity, have attracted increasing interest in this field. To further optimize the hydrogen storage performance, we specially emphasize novel nanostructured materials, which have the advantage of combining alloy engineering, nanostructuring and the synergistic effect to change the thermodynamics of Mg/MgH2 to some extent. Furthermore, the remaining challenges and the directions of further research on MgH2, including the fundamental mechanism of the Mg-H bond instability, advanced synthetic routes, stabilizing nanostructures, and predicting novel composite materials, are proposed.

15.
Mol Med Rep ; 17(1): 225-233, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29115605

RESUMEN

Best vitelliform macular dystrophy (BVMD) is a hereditary retinal disease characterized by the bilateral accumulation of large egg yolk­like lesions in the sub­retinal and sub­retinal pigment epithelium spaces. Macular degeneration in BVMD can begin in childhood or adulthood. The variation in the age of onset is not clearly understood. The present study characterized the clinical characteristics of two Chinese patients with either juvenile­onset BVMD or adult­onset BVMD and investigated the underlying genetic variations. A 16­year­old male (Patient 1) was diagnosed with juvenile­onset BVMD and a 43­year­old female (Patient 2) was diagnosed with adult­onset BVMD. Comprehensive ophthalmic examinations were performed, including best­corrected visual acuity, intraocular pressure, slit­lamp examination, fundus photography, optical coherence tomography, fundus fluorescein angiography imaging and Espion electrophysiology. Genomic DNA was extracted from peripheral blood leukocytes collected from these patients, their family members, and 200 unrelated subjects within in the same population. The 11 exons of the bestrophin­1 (BEST1) gene were amplified by polymerase chain reaction and directly sequenced. Both patients presented lesions in the macular area. In Patient 1, a heterozygous mutation c.903T>G (p.D301E) in exon 8 of the BEST1 gene was identified. This mutation was not present in any of the unaffected family members or the normal controls. Polymorphism phenotyping and the sorting intolerant from tolerant algorithm predicted that the amino acid substitution D301E in bestrophin­1 protein was damaging. In Patient 2, a single nucleotide polymorphism c.1608C>T (p.T536T) in exon 10 of the BEST1 gene was identified. These findings expand the spectrum of BEST1 genetic variation and will be valuable for genetic counseling and the development of therapeutic interventions for patients with BVMD.


Asunto(s)
Bestrofinas/genética , Mutación , Fenotipo , Distrofia Macular Viteliforme/diagnóstico , Distrofia Macular Viteliforme/genética , Adolescente , Adulto , Edad de Inicio , Biología Computacional/métodos , Análisis Mutacional de ADN , Exones , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Adulto Joven
16.
Int J Mol Med ; 41(2): 773-782, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29207047

RESUMEN

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary retinal disorder characterized by the premature arrest of vascularization in the peripheral retina. The aim of the present study was to characterize the clinical presentations of a Chinese family affected by bilateral severe FEVR, and to identify the underlying genetic variations. One family that presented with bilateral FEVR was recruited for this study. Comprehensive ophthalmic examinations, including best­corrected visual acuity, slit­lamp examination, fundus photography, fundus fluorescein angiography imaging and electroretinogram were performed. Genomic DNA was extracted from leukocytes of the peripheral blood collected from the affected and unaffected family members, as well as 200 unrelated control subjects from the same population. Next­generation sequencing of the candidate genes associated with ocular diseases was performed, and the identified mutations were validated by conventional polymerase chain reaction­based sequencing. The functional effects of the mutations were analyzed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT). One heterozygous ATP binding cassette subfamily A member 4 (ABCA4) c.5693G>A (p.R1898H) mutation in exon 40 and one heterozygous LDL receptor related protein 5 (LRP5) c.260T>G (p.I87S) mutation in exon 2 were identified in this family. To the best of our knowledge, the ABCA4 c.5693G>A (p.R1898H) mutation has not been reported in FEVR, and the LRP5 c.260T>G (p.I87S) mutation is a novel mutation. PolyPhen and SIFT predicted that the amino acid substitution R1898H in protein ABCA4 is benign, whereas the amino acid substitution I87S in protein LRP5 is damaging. A single nucleotide polymorphism c.266A>G (p.Q89R, rs41494349) was identified in exon 2 of LRP5. These findings expand the mutation spectrums of ABCA4 and LRP5, and will be valuable for genetic counseling and development of therapeutic interventions for patients with FEVR.


Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento , Proteína-5 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética , Enfermedades de la Retina/genética , Sustitución de Aminoácidos/genética , China , Exones/genética , Enfermedades Hereditarias del Ojo , Vitreorretinopatías Exudativas Familiares , Femenino , Heterocigoto , Humanos , Masculino , Mutación , Linaje , Retina/patología , Enfermedades de la Retina/patología
17.
Carbohydr Polym ; 174: 750-759, 2017 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-28821128

RESUMEN

An appropriate surface chemical property is crucial in tissue engineering scaffolds, which promotes cell attachment and proliferation. A biomimetic composite scaffold with a polydopamine (PDA) coating layer on electrospun poly(lactic acid) (PLA)/cellulose nanofibrils (CNF) composite nanofiber was developed in this study. PLA/CNF composite nanofibers were fabricated and then coated via treatment with a dopamine solution. The PDA coating layer was successfully formed on the surface of the PLA/CNF composite nanofiber by using a simple, environment-friendly, and effective procedure. Results indicated that the addition of CNF into the PLA matrix can effectively improve the deposition rate of the PDA coating layer on the surface of the composite nanofiber during the initial stage of coating because of hydrogen bonding between the CNF and PDA molecular chains. The hydrophilicity and mechanical properties of the PLA/CNF-PDA scaffold were higher than those of the PLA/CNF scaffold. In addition, the cell culture test showed that the adhesion, proliferation, and growth of human mesenchymal stem cells (hMSCs) cultured on the PLA/CNF-PDA scaffold were significantly enhanced relative to those cultured on the PLA/CNF scaffold because of the introduction of the PDA coating. This finding suggested that surface biofunctionalization via the PDA coating layer could simply and effectively enhance cell biocompatibility for polymer-based scaffolds.

18.
Mater Sci Eng C Mater Biol Appl ; 77: 92-101, 2017 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-28532111

RESUMEN

As one of the stimulators on bone formation, osteogenic growth peptide (OGP) improves both proliferation and differentiation of the bone cells in vitro and in vivo. The aim of this work was the preparation of three dimensional porous poly(lactic acid) (PLA) scaffold with high porosity from PLA-dioxane-water ternary system with the use of vacuum-assisted solvent casting, phase separation, solvent extraction and particle leaching methods. Then, by surface coating of PLA scaffold with chitosan (CS)/OGP solution, biofunctionalization of PLA scaffold had been completed for application in bone regeneration. The effects of frozen temperature (-20, -50, -80°C) and PLA solution concentration (10, 12, 14wt%) on the microstructure, water absorption, porosity, hydrophilicity, mechanical properties, and biocompatibility of PLA and CS/OGP/PLA scaffold were investigated. Results showed that both PLA and CS/OGP/PLA scaffolds have an interconnected network structure and a porosity of up to 96.1% and 91.5%, respectively. The CS/OGP/PLA scaffold exhibited better hydrophilicity and mechanical properties than that of uncoated PLA scaffold. Moreover, the results of cell culture test showed that CS/OGP coating could stimulate the proliferation and growth of osteoblast cells on CS/OGP/PLA scaffold. These finding suggested that the surface biofunctionalization by CS/OGP coating layer could be an effective method on enhancing cell adhesion to synthetic polymer-based scaffolds in tissue engineering application and the developed porous CS/OGP/PLA scaffold should be considered as alternative biomaterials for bone regeneration.


Asunto(s)
Ingeniería de Tejidos , Huesos , Quitosano , Ácido Láctico , Poliésteres , Porosidad , Andamios del Tejido
19.
Pathol Oncol Res ; 22(2): 253-60, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26183062

RESUMEN

MicroRNA (miR)-199b-5p has been reported to be upregulated in human osteosarcoma tissues and participate in the Notch signaling in osteosarcoma cells. This study was aimed to investigate the associations of miR-199b-5p expression with tumor progression of primary osteosarcoma, and to deepen the understanding of its involvement in carcinogenesis. Quantitative real-time reverse transcriptase-polymerase chain reaction was performed to detect expression levels of miR-199b-5p in 98 osteosarcoma and corresponding adjacent normal tissues. Then, the correlations of its expression with clinicopathological characteristics and patient prognosis were statistically analyzed. Moreover, in vitro assays were performed to assess the effects of miR-199b-5p on the proliferation, migration and invasion of two human osteosarcoma cell lines MG63 and U2OS. Compared to normal controls, miR-199b-5p expression was significantly upregulated in osteosarcoma tissues (P < 0.001). In addition, the expression levels of miR-199b-5p in osteosarcoma patients with high tumor grade (P = 0.008), positive metastasis (P = 0.001) and positive recurrence (P = 0.001) were markedly higher than those with low tumor grade, negative metastasis and negative recurrence. Moreover, osteosarcoma patients with high miR-199b-5p expression showed shorter overall survival (P < .001) and shorter disease-free survival (P < 0.001) than those with low expression. Furthermore, the inhibition of miR-199b-5p significantly suppressed cell proliferation, and reduced the migratory and invasive abilities of osteosarcoma cells. This study offer the convincing evidence for the first time that the increased expression of miR-199b-5p may play crucial roles in aggressive progression and poor prognosis of human osteosarcoma. miR-199b-5p may function as an oncogene by positively regulating the malignant potentials of this neoplasm.


Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias Óseas/patología , Movimiento Celular , Proliferación Celular , MicroARNs/genética , Recurrencia Local de Neoplasia/patología , Osteosarcoma/patología , Adulto , Apoptosis , Neoplasias Óseas/genética , Progresión de la Enfermedad , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Masculino , Invasividad Neoplásica , Recurrencia Local de Neoplasia/genética , Estadificación de Neoplasias , Osteosarcoma/genética , Pronóstico , ARN Mensajero/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transducción de Señal , Tasa de Supervivencia , Células Tumorales Cultivadas , Adulto Joven
20.
Int J Biol Sci ; 11(4): 361-9, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25798056

RESUMEN

PKD1 and PKD2 mutations could lead to autosomal dominant polycystic kidney disease (ADPKD), which afflicts millions of people worldwide. Due to the marked differences in the lifespan, size, anatomy, and physiology from humans, rodent ADPKD models cannot fully mimic the disease. To obtain a large animal model that recapitulates the disease, we constructed a mini-pig model by mono-allelic knockout (KO) of PKD1 using zinc finger nuclease. The mono-allelic KO pigs had lower PKD1 expression than their wild-type littermates at both the transcriptional and translational levels. After approximately six months, renal cysts appeared and grew progressively in the KO pigs. Histological analysis showed that renal cysts were scatteredly distributed in the mutant pig kidneys and were lined by either cuboidal or flattened epithelial cells. Contrast-enhanced computed tomography confirmed that all of the mutant pigs had renal and hepatic cysts, when they were 11-month-old. Immunohistochemical analysis revealed that most of the cysts were derived from the proximal tubules and collecting ducts. Therefore, the PKD1 mono-allelic knockout is sufficient to trigger renal cystogenesis, and this pig model may provide a platform for future study of renal cyst formation.


Asunto(s)
Riñón/metabolismo , Riñón/patología , Riñón Poliquístico Autosómico Dominante/metabolismo , Canales Catiónicos TRPP/metabolismo , Alelos , Animales , Animales Modificados Genéticamente , Riñón Poliquístico Autosómico Dominante/genética , Riñón Poliquístico Autosómico Dominante/patología , Porcinos , Canales Catiónicos TRPP/genética
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