Search results for "Research"
showing 10 items of 25967 documents
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation
2021
BACKGROUND. Deciphering the function of the many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding of a cell’s function and its pathophysiology. METHODS. Whole-exome sequencing, yeast 2-hybrid and transcriptome analyses, and molecular characterization were performed in this study to uncover the function of the C2orf69 gene. RESULTS. We identified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation. C2orf69 contains an N-terminal signal peptide that is required and sufficient for mitochondrial…
Rhodococcus aetherivorans BCP1 as cell factory for the production of intracellular tellurium nanorods under aerobic conditions
2016
Tellurite (TeO3 2−) is recognized as a toxic oxyanion to living organisms. However, mainly anaerobic or facultative-anaerobic microorganisms are able to tolerate and convert TeO3 2− into the less toxic and available form of elemental Tellurium (Te0), producing Te-deposits or Te-nanostructures. The use of TeO3 2−-reducing bacteria can lead to the decontamination of polluted environments and the development of “green-synthesis” methods for the production of nanomaterials. In this study, the tolerance and the consumption of TeO3 2− have been investigated, along with the production and characterization of Te-nanorods by Rhodococcus aetherivorans BCP1 grown under aerobic conditions. Aerobically …
Studying nerve transfers: Searching for a consensus in nerve axons count
2021
Axonal count is the base for efficient nerve transfer; despite its capital importance, few studies have been published on human material, most research approaches being performed on experimental animal models of nerve injury. Thus, standard analysis methods are still lacking. Quantitative data obtained have to be reproducible and comparable with published data by other research groups. To share results with the scientific community, the standardization of quantitative analysis is a fundamental step. For this purpose, the experiences of the Italian, Austrian, German, Greek, and Iberian-Latin American groups have been compared with each other and with the existing literature to reach a consen…
MTA apical barrier: In vitro study of the use of ultrasonic vibration
2016
Background: The apexification is the first alternative treatment on a permanent tooth when, after a tooth trauma and in the presence of immature apex trauma, pulp necrosis occurs. Many studies have demonstrated the efficacy of mineral trioxide aggregate (MTA) as apical sealing material of choice in these cases, but has a degree of filtration as all other materials. The objective of this study was to analyze the seal ability of MTA on the duct walls in immature teeth unirradicular apexes, using indirect vibration. Material and Methods: The study was conducted on 45 teeth divided into 3 groups: Group A or control group in which no vibration for placing the MTA was used, Group B and C or group…
Vertical root fracture resistance of simulated immature permanent teeth filled with MTA using different vehicles
2017
Background The aim of the study is to evaluate the resistance vertical root fracture (VRF) of mineral trioxide aggregate (MTA) filled-immature permanent roots by using three different vehicles. Material and Methods Forty-extracted human single-rooted mandibular premolars were selected and the root length was standardized to the length of 9 mm. For simulation of immature tooth apices, peeso reamers were introduced into the root canals and the prepared roots were assigned into three experimental groups according the used vehicle (distilled water-DW, prophylene glycol-PG, chlorhexidine-CHX) and control group (n=10). To simulate a periodontal membrane, the apical 7 mm of all roots was covered w…
The effects of silver nanoparticles on antimicrobial activity of ProRoot mineral trioxide aggregate (MTA) and calcium enriched mixture (CEM)
2016
Background: Although, mineral trioxide aggregate (MTA) and new experimental cement (CEM) are good root filling cements, but had no or low antimicrobial activities. The aim of this study was to evaluate the effects of addition of silver nanoparticles (SNP) to these two cements on antimicrobial effects against five most dental infection related microorganisms. Material and Methods: Two suspensions of 100 and 200 ppm of SNP were prepared and 180 μl of microbial suspension with 1.5 × 10 8 CFU/ml of each respected microorganisms were re-suspended in deionized water or each of SNP suspensions. After that, 60 μg of MTA and CEM were added to each tube. In one tube, the mixture of all above mentione…
Effect of Smear Clear and Some Other Commonly Used Irrigants on dislodgement resistance of Mineral Trioxide Aggregate to Root Dentin
2016
Background This study aimed to assess the push-out bond strength of mineral trioxide aggregate (MTA) to root canal dentin after irrigation with Smear Clear in comparison with 2.5% sodium hypochlorite (NaOCl), 2% chlorhexidine (CHX) and saline as commonly used root canal irrigants. Material and Methods The coronal and mid-root areas of maxillary anterior teeth were horizontally sectioned into one-millimeter thick slices. The root canal lumen of dentinal slices was dilated using a diamond bur with 1.3 mm diameter. After the application of MTA, the samples were incubated in 100% humidity for 10 minutes and were then randomly divided into four groups (n=20) and immersed in Smear Clear, 2.5% NaO…
Cellular Responses in Human Dental Pulp Stem Cells Treated with Three Endodontic Materials
2017
Human dental pulp stem cells (HDPSCs) are of special relevance in future regenerative dental therapies. Characterizing cytotoxicity and genotoxicity produced by endodontic materials is required to evaluate the potential for regeneration of injured tissues in future strategies combining regenerative and root canal therapies. This study explores the cytotoxicity and genotoxicity mediated by oxidative stress of three endodontic materials that are widely used on HDPSCs: a mineral trioxide aggregate (MTA-Angelus white), an epoxy resin sealant (AH-Plus cement), and an MTA-based cement sealer (MTA-Fillapex). Cell viability and cell death rate were assessed by flow cytometry. Oxidative stress was m…
Re-definition and supporting evidence toward Fanconi Anemia as a mitochondrial disease: Prospects for new design in clinical management
2021
Fanconi anemia (FA) has been investigated since early studies based on two definitions, namely defective DNA repair and proinflammatory condition. The former definition has built up the grounds for FA diagnosis as excess sensitivity of patients' cells to xenobiotics as diepoxybutane and mitomycin C, resulting in typical chromosomal abnormalities. Another line of studies has related FA phenotype to a prooxidant state, as detected by both in vitro and ex vivo studies. The discovery that the FA group G (FANCG) protein is found in mitochondria (Mukhopadhyay et al., 2006) has been followed by an extensive line of studies providing evidence for multiple links between other FA gene products and mi…
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
2018
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap with other neuromuscular diseases, which can be caused by pathogenic variants in non-mitochondrial genes as well. Mitochondrial pathogenic variants can be found in the mitochondrial DNA (mtDNA) or in any of the 1,500 nuclear genes with a mitochondrial function. We have performed a two-step next-generation sequencing approach in a cohort of 117 patients, mostly children, in whom a mitochondrial disease-cause could likely or possibly explain the phe…