Early-onset emphysema in a large French-Canadian family: a genetic investigation

Publication date: Available online 15 April 2019Source: The Lancet Respiratory MedicineAuthor(s): Yohan Bossé, Maxime Lamontagne, Nathalie Gaudreault, Christine Racine, Marie-Hélène Levesque, Benjamin M Smith, Dominique Auger, Alisson Clemenceau, Marie-Ève Paré, Louis Laviolette, Victor Tremblay, Bruno Maranda, Mathieu C Morissette, François MaltaisSummaryBackgroundInherited mutations in SERPINA1 coding for the alpha-1 antitrypsin (A1AT) protein is the only well established cause of hereditary emphysema. We aimed to identify the genetic ecause of early-onset emphysema in a five-generation French-Canadian family free of A1AT deficiency.MethodsBetween Dec 1, 2014, and April 1, 2017, we investigated 63 individuals from a single pedigree, including 55 with DNA available. Whole-exome sequencing was done in a convenience sample of 14 individuals (nine with unambiguous expression of the typical form of emphysema observed in this family). We filtered rare non-synonymous variants that were predicted to be damaging to identify a single mutation in a biologically relevant gene shared among all affected individuals. We assessed segregation with the disease in additional family members who were not evaluated by whole-exome sequencing. The effect of the candidate variant on protein function was evaluated in vitro. mRNA and protein expression of the candidate gene was assessed in lung samples from unrelated individuals (n=80) with and without emphys...
Source: The Lancet Respiratory Medicine - Category: Respiratory Medicine Source Type: research

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This article presents a unique 3D biocompatible Aluminum-based quantum structure (QS) for in vitro cancer detection using Surface Enhanced Raman Scattering (SERS). The Al-based QSs fabricated using ultrashort pulsed laser are of two distinct surface characters, wrinkled and smooth spherical. The limit of detection for chemical sensing of Crystal Violet and Rhodamine 6G by the Al-QS was driven up to single molecule sensing (femtomolar concentration). Biological sensing of cysteine, a disease biomarker and carcinoembryonic antigen (CEA), a cancer biomarker was also tested by the Al-QS. The ability of in vitro cell detection ...
Source: Biosensors and Bioelectronics - Category: Biotechnology Source Type: research
In this study, four different weight% of Punica granatum fruit peel extract were used as green stabilizers to synthesize IONPs followed by a series of characterization experiments and in vitro anticancer evaluation. Results revealed that all synthesized IONPs have high degree of crystallinity and purity. The optimum saturation magnetization, and hydrodynamic size were found to be ∼69 emu.g−1, and 26.52 nm, respectively. Morphological studies demonstrated that adding peel extract decreased size of NPs with the average particle size below 11 nm. Cytotoxicity assay showed that the IONPs were not react...
Source: Journal of Molecular Structure - Category: Molecular Biology Source Type: research
Publication date: 15 March 2020Source: Journal of Molecular Structure, Volume 1204Author(s): A.D. Herrera-España, J. Us-Martín, S. Hernández-Ortega, G. Mirón-López, L. Quijano, J.R. Villanueva-Toledo, G.J. Mena-RejónAbstractThe structural modification of natural products has shown to be a remarkable tool in the generation of novel bioactive molecules. Herein, the synthesis, structural analysis and anticancer activity of the novel triterpenoid thiazole 3 is reported. The synthesis was carried out through the bromination of ochraceolide A (1) and the subsequent heterocyclic condensat...
Source: Journal of Molecular Structure - Category: Molecular Biology Source Type: research
Publication date: Available online 14 December 2019Source: Chemico-Biological InteractionsAuthor(s): Ryan N. Serio, Lorraine J. GudasAbstractEthanol (EtOH) is a recreationally ingested compound that is both teratogenic and carcinogenic in humans. Because of its abundant consumption worldwide and the vital role of stem cells in the formation of birth defects and cancers, delineating the effects of EtOH on stem cell function is currently an active and urgent pursuit of scientific investigation to explicate some of the mechanisms contributing to EtOH toxicity. Stem cells represent a primordial, undifferentiated phase of devel...
Source: Chemico Biological Interactions - Category: Biochemistry Source Type: research
Publication date: Available online 14 December 2019Source: Sensors and Actuators B: ChemicalAuthor(s): Xinxin Shi, Yalei Hu, Hong-Min Meng, Jie Yang, Lingbo Qu, Xiao-Bing Zhang, Zhaohui LiAbstractIntracellular polarity has a large impact on the activity of a series of biomolecules or maintain the function of particular domains. Therefore, monitoring the changing of intracellular polarity can great improve the understanding its functions in living cell level. Herein, by employing p-phenylenediamine as precursor, we prepared a red emissive carbon dots based nanoprobe for real-time sensing polarity in living cells. With the i...
Source: Sensors and Actuators B: Chemical - Category: Chemistry Source Type: research
Publication date: 15 February 2020Source: Journal of Hazardous Materials, Volume 384Author(s): F. Portet-Koltalo, T. Gardes, M. Debret, Y. Copard, S. Marcotte, C. Morin, Q. LaperdrixAbstractOrganic matter (OM), clays, sand or time are factors possibly influencing the bioaccessibility of polycyclic aromatic hydrocarbons (PAHs) and polychlorobiphenyls (PCBs) from sediments. An experimental design was performed to monitor and quantify this process. The bioaccessible fraction, linked to the rapidly-desorbing fraction (Frap) of contaminants, was assessed through a non-exhaustive extraction using a carboxymethyl-β-cyclodext...
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
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Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
In this study, we verified that ferroptosis occurred in animal models of arsenic-induced pancreatic dysfunction through assessing proferroptotic markers and morphological changes in mitochondria. In vitro, arsenic caused execution of ferroptosis in a dose-dependent manner, which could be significantly reduced by ferrostatin-1. Additionally, arsenic damaged mitochondria manifested as diminishing of mitochondrial membrane potential, reduced cytochrome c level and production of mitochondrial reactive oxygen species (MtROS) in MIN6 cells. Using the Mito-TEMPO, we found the autophagy level and subsequent ferroptotic cell death ...
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
Publication date: Available online 14 December 2019Source: European Journal of Surgical OncologyAuthor(s): Shruti Sevak, Tine Gregoir, Albert Wolthuis, Matthew AlbertAbstractA majority of the morbidity and mortality burden of rectal cancer is distributed within the geriatric age group. Current surgical and medical treatment modalities pose significant challenges in treating complications specifically in the already pre-disposed senior population with baseline dysfunction. This chapter reviews the work-up, management, current data and oncologic outcomes of treating rectal cancer in the senior adult.
Source: European Journal of Surgical Oncology (EJSO) - Category: Surgery Source Type: research
Conclusion: Serum concentration and alleleic conformation of SFTPD has a significantly high predictive value for COPD and AECOPD. Thus, these can be tested further and could be applied as a predictive or prognostic marker. Introduction Chronic Obstructive Pulmonary Disease (COPD) affects lungs and exhibits irreversible airflow conditions that leads to improper respiratory function (Carolan et al., 2014). COPD is a global disease burden which accounts for ~3 million deaths annually (Zemans et al., 2017) and is responsible for the increase in worldwide mortality and morbidity (Dickens et al., 2011). Chronic Obstructi...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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