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81.
Sharon Hausman-Cohen William LaValley Heather Way Emily Gutierrez Jordan Reeder 《International journal of molecular sciences》2022,23(4)
Molecular biology combined with genomics can be a powerful tool for developing potential intervention strategies for improving outcomes in children with autism spectrum disorders (ASD). Monogenic etiologies rarely cause autism. Instead, ASD is more frequently due to many polygenic contributing factors interacting with each other, combined with the epigenetic effects of diet, lifestyle, and environment. One limitation of genomics has been identifying ways of responding to each identified gene variant to translate the information to something clinically useful. This paper will illustrate how understanding the function of a gene and the effects of a reported variant on a molecular level can be used to develop actionable and targeted potential interventions for a gene variant or combinations of variants. For illustrative purposes, this communication highlights a specific genomic variant, SHANK3. The steps involved in developing molecularly genomically targeted actionable interventions will be demonstrated. Cases will be shared to support the efficacy of this strategy and to show how clinicians utilized these targeted interventions to improve ASD-related symptoms significantly. The presented approach demonstrates the utility of genomics as a part of clinical decision-making. 相似文献
82.
Alessia Mariano Irene Bigioni Anna Scotto dAbusco Alessia Baseggio Conrado Simonetta Maina Antonio Francioso Luciana Mosca Mario Fontana 《International journal of molecular sciences》2022,23(1)
Pheomelanin is a natural yellow-reddish sulfur-containing pigment derived from tyrosinase-catalyzed oxidation of tyrosine in presence of cysteine. Generally, the formation of melanin pigments is a protective response against the damaging effects of UV radiation in skin. However, pheomelanin, like other photosensitizing substances, can trigger, following exposure to UV radiation, photochemical reactions capable of modifying and damaging cellular components. The photoproperties of this natural pigment have been studied by analyzing pheomelanin effect on oxidation/nitration of tyrosine induced by UVB radiation at different pH values and in presence of iron ions. Photoproperties of pheomelanin can be modulated by various experimental conditions, ranging from the photoprotection to the triggering of potentially damaging photochemical reactions. The study of the photomodification of l-Tyrosine in the presence of the natural pigment pheomelanin has a special relevance, since this tyrosine oxidation/nitration pathway can potentially occur in vivo in tissues exposed to sunlight and play a role in the mechanisms of tissue damage induced by UV radiation. 相似文献
83.
Filippo Crimì Emilio Quaia Giulio Cabrelle Chiara Zanon Alessia Pepe Daniela Regazzo Irene Tizianel Carla Scaroni Filippo Ceccato 《International journal of molecular sciences》2022,23(2)
Adrenal incidentalomas (AIs) are incidentally discovered adrenal neoplasms. Overt endocrine secretion (glucocorticoids, mineralocorticoids, and catecholamines) and malignancy (primary or metastatic disease) are assessed at baseline evaluation. Size, lipid content, and washout characterise benign AIs (respectively, <4 cm, <10 Hounsfield unit, and rapid release); nonetheless, 30% of adrenal lesions are not correctly indicated. Recently, image-based texture analysis from computed tomography (CT) may be useful to assess the behaviour of indeterminate adrenal lesions. We performed a systematic review to provide the state-of-the-art of texture analysis in patients with AI. We considered 9 papers (from 70 selected), with a median of 125 patients (range 20–356). Histological confirmation was the most used criteria to differentiate benign from the malignant adrenal mass. Unenhanced or contrast-enhanced data were available in all papers; TexRAD and PyRadiomics were the most used software. Four papers analysed the whole volume, and five considered a region of interest. Different texture features were reported, considering first- and second-order statistics. The pooled median area under the ROC curve in all studies was 0.85, depicting a high diagnostic accuracy, up to 93% in differentiating adrenal adenoma from adrenocortical carcinomas. Despite heterogeneous methodology, texture analysis is a promising diagnostic tool in the first assessment of patients with adrenal lesions. 相似文献
84.
85.
Juan Carlos Fernndez-Martín Ana María Espinosa-Oliva Irene García-Domínguez Isaac Rosado-Snchez Yolanda M. Pacheco Rosario Moyano Jos G. Monterde Jos Luis Venero Rocío M. de Pablos 《International journal of molecular sciences》2022,23(3)
Lipopolysaccharide (LPS)-induced endotoxemia induces an acute systemic inflammatory response that mimics some important features of sepsis, the disease with the highest mortality rate worldwide. In this work, we have analyzed a murine model of endotoxemia based on a single intraperitoneal injection of 5 mg/kg of LPS. We took advantage of galectin-3 (Gal3) knockout mice and found that the absence of Gal3 decreased the mortality rate oflethal endotoxemia in the first 80 h after the administration of LPS, along with a reduction in the tissular damage in several organs measured by electron microscopy. Using flow cytometry, we demonstrated that, in control conditions, peripheral immune cells, especially monocytes, exhibited high levels of Gal3, which were early depleted in response to LPS injection, thus suggesting Gal3 release under endotoxemia conditions. However, serum levels of Gal3 early decreased in response to LPS challenge (1 h), an indication that Gal3 may be extravasated to peripheral organs. Indeed, analysis of Gal3 in peripheral organs revealed a robust up-regulation of Gal3 36 h after LPS injection. Taken together, these results demonstrate the important role that Gal3 could play in the development of systemic inflammation, a well-established feature of sepsis, thus opening new and promising therapeutic options for these harmful conditions. 相似文献
86.
Angela M. Gutierrez Rohit Bhandari Jiaying Weng Arnold Stromberg Thomas D. Dziubla J. Zach Hilt 《应用聚合物科学杂志》2020,137(37):49109
In this work, the development of novel magnetic nanocomposite microparticles (MNMs) via free radical polymerization for their application in the remediation of contaminated water is presented. Acrylated plant-based polyphenols, curcumin multiacrylate (CMA) and quercetin multiacrylate (QMA), were incorporated as functional monomers to create high affinity binding sites for the capture of polychlorinated biphenyls (PCBs), as a model pollutant. The MNMs were characterized by Fourier transform infrared spectroscopy, thermogravimetric analysis, scanning electron microscopy, dynamic light scattering, and UV–visible spectroscopy. The affinity of these novel materials for PCB 126 was evaluated and fitted to the nonlinear Langmuir model to determine binding affinities (KD). The results suggest the presence of the polyphenolic moieties enhances the binding affinity for PCB 126, with KD values comparable to that of antibodies. This demonstrates that these nanocomposite materials have promising potential as environmental remediation adsorbents for harmful contaminants. 相似文献
87.
Carmen J. Pastor-Maldonado Juan M. Surez-Rivero Suleva Povea-Cabello Mnica lvarez-Crdoba Irene Villaln-García Manuel Munuera-Cabeza Alejandra Surez-Carrillo Marta Talavern-Rey Jos A. Snchez-Alczar 《International journal of molecular sciences》2020,21(22)
The aim of this review is to shed light over the most recent advances in Coenzyme Q10 (CoQ10) applications as well as to provide detailed information about the functions of this versatile molecule, which have proven to be of great interest in the medical field. Traditionally, CoQ10 clinical use was based on its antioxidant properties; however, a wide range of highly interesting alternative functions have recently been discovered. In this line, CoQ10 has shown pain-alleviating properties in fibromyalgia patients, a membrane-stabilizing function, immune system enhancing ability, or a fundamental role for insulin sensitivity, apart from potentially beneficial properties for familial hypercholesterolemia patients. In brief, it shows a remarkable amount of functions in addition to those yet to be discovered. Despite its multiple therapeutic applications, CoQ10 is not commonly prescribed as a drug because of its low oral bioavailability, which compromises its efficacy. Hence, several formulations have been developed to face such inconvenience. These were initially designed as lipid nanoparticles for CoQ10 encapsulation and distribution through biological membranes and eventually evolved towards chemical modifications of the molecule to decrease its hydrophobicity. Some of the most promising formulations will also be discussed in this review. 相似文献
88.
Unai Iriarte‐Velasco Irene Sierra Emilio Atilano Cepeda Raquel Bravo Jose Luis Ayastuy 《Coloration Technology》2015,131(4):322-332
Bone is an inorganic template containing organic material inside which can be converted into hydroxyapatite‐rich material by pyrolysis. Nowadays, there is a growing research interest in the use of hydroxyapatite, the chemical formula of which is Ca10(PO4)6(OH)2. In the present work, pork bone, an abundant biomass source and food waste, has been converted into structured porous hydroxyapatite by a three‐step process including precharring under mild conditions, chemical activation, and thermal activation. The investigated activating agents were NaOH, KOH, K2CO3, H2SO4, and H3PO4. A thorough investigation of the influence of different activating protocols on the chemical and textural properties of the produced material was carried out by nitrogen adsorption–desorption at 77 K, potentiometric titrations, Fourier transform infrared, and X‐ray diffraction techniques. Chemical activation with NaOH, K2CO3, and H2SO4 increased the specific surface area up to 53%. H3PO4 reduced both surface area and pore volume, and KOH showed little influence on the pore structure. The produced materials were evaluated by methylene blue adsorption tests and showed significant improvement as a result of chemical activation. As a main effect, acid treatment increased methylene blue adsorption kinetics, probably owing to an increase in micropororosity, whereas alkali activation enhanced the adsorption capacity of the resultant biochar. 相似文献
89.
Cuauhtémoc Flores Ferreyra Angel de Jesus Morales Ramirez Hugo Martinez Gutierrez 《腐蚀工程科学与技术》2017,52(3):236-243
This study compares the hot corrosion performance of yttria-stabilised zirconia (7YSZ), and 7YSZ?+?Gd2O3 composite samples in the presence of molten mixture of Na2SO4?+?V2O5 at 1150°C. For 7YSZ, the reaction between NaVO3 and Y2O3 produces YVO4 and leads the transformation of tetragonal ZrO2 to monoclinic ZrO2. A high-density in sintered 7YSZ?+?Gd2O3 samples, led minor amounts of monoclinic ZrO2 and tetragonal GdVO4 as the hot corrosion products with only traceable amounts of YVO4, and a stable corroded layer was formed. Due to the synergic effect of doping of zirconia with Gd2O3, the 7YSZ?+?Gd2O3 sample has a much better hot corrosion crack resistance than 7YSZ. 相似文献
90.
Nae-Lih Wu Li-Fu Wu Irene A. Rusakova Alejandro Hamed Alexader P. Litvinchuk 《Journal of the American Ceramic Society》1999,82(1):67-73
Upon consecutive heat treatments at increasing temperatures, the microstructure of solution–sol–gel-derived stannic oxide (SnO2 ) xerogel evolves in three stages: (I) below 300°C, characterized by extensive dehydroxylation and gel shrinkage with little grain growth and surface loss; (II) between 300° and 500°C, by extensive crystallization, leading to dramatic surface loss (by 70%); and (III) above 500°C, by grain growth. Concurrently, the UV-absorption edge shows red shifts during stages I and II and blue shifts during stage III, resulting in distinct color variations. The edge displacement bears a close correlation with a Raman "defect band" at ∼305–328 cm−1 . 相似文献