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Susana I L Gomes, Carlos P Roca, Frank von der Kammer, Janeck J Scott-Fordsmand, Mónica J B Amorim
Titanium dioxide (TiO2) based nanomaterials (NMs) are among the most produced NMs worldwide. When irradiated with light, particularly UV, TiO2 is photoactive, a property that is explored for several purposes. There are an increasing number of reports on the negative effects of photoactivated TiO2 on non-target organisms. We have here studied the effect of a suite of reference type TiO2 NMs (i.e. NM103, NM104, and NM105 and compared these to the bulk) with and without UV radiation to the oligochaete Enchytraeus crypticus...
November 16, 2018: Nanoscale
Elena V Cherepkova, Vladimir V Maksimov, Lyubomir I Aftanas
In our study, the frequencies of serotonin transporter gene (5-HTT) polymorphisms and their combinations are compared in the healthy male subjects with antisocial behavior, in general, and in those with its particular forms, as well as in the reference group of MMA fighters. Subjects convicted of unlawful actions were classified into those convicted of violent crimes or non-violent ones. The group of subjects convicted of violent crimes was further subdivided into those convicted of murder, or robbery, or of inflicting grave body injuries...
November 15, 2018: Translational Psychiatry
João Paulo de Castro Marcondes, Pablo Felipe Bertolini Andrade, André Luiz Ventura Sávio, Maruhen Amir Datsch Silveira, Marilza Vieira Cunha Rudge, Daisy Maria Fávero Salvadori
Several findings suggest that in utero stressor stimuli can alter fetal development by promoting transcriptional changes, and predisposing the neonate to diseases later in life. This study aimed to investigate whether a hyperglycemic environment in pregnant women with gestational diabetes mellitus (GDM) is able to cause fetal genetic alterations and predispose neonates to obesity. Transcriptional alteration of SIRT1, TP53 and BCL2 genes, miR-181a (a SIRT1 or BCL2 regulator) and telomere length were evaluated in placental and umbilical-cord blood cells...
December 2018: Mutation Research
Özlem Ünal, Serdar Ceylaner, Rıdvan Akın
Mutations in the human GLUL gene, which encodes the enzyme glutamine synthetase (GS), may cause congenital glutamine synthetase deficiency. The disease was first described in 2005 and only three patients have been reported to date. We report a fourth patient suffering from congenital GS deficiency who was found to have some distinctive clinical findings. The patient was a 30-month-old girl who was referred to us due to developmental delay and seizures which began at 5 months of age. She was seizure free for 5 months with valproic acid and vigabatrin...
November 15, 2018: Neuropediatrics
J Arvid Ågren, Andrew G Clark
Selfish genetic elements (historically also referred to as selfish genes, ultra-selfish genes, selfish DNA, parasitic DNA, genomic outlaws) are genetic segments that can enhance their own transmission at the expense of other genes in the genome, even if this has no or a negative effect on organismal fitness. [1-6] Genomes have traditionally been viewed as cohesive units, with genes acting together to improve the fitness of the organism. However, when genes have some control over their own transmission, the rules can change, and so just like all social groups, genomes are vulnerable to selfish behaviour by their parts...
November 2018: PLoS Genetics
Estefanía Muñoz-Atienza, Carlos Távara, Patricia Díaz-Rosales, Luis Llanco, Enrique Serrano-Martínez, Carolina Tafalla
Flavobacterium psychrophilum is the etiological agent of bacterial cold water disease (BCWD), also referred to as rainbow trout fry syndrome (RTFS), a disease with great economic impact in salmonid aquaculture. Despite this, to date, not many studies have analyzed in depth how the immune system is regulated during the course of the disease. In the current study, we have studied the transcription of several immune genes related to T and B cell activity in the skin of rainbow trout (Oncorhynchus mykiss) naturally infected with F...
November 12, 2018: Fish & Shellfish Immunology
Eliyahu Zaig, Odile Cohen-Ouaknine, Anat Tsur, Sheila Nagar, Gherta Bril, Lior Tolkin, Avivit Cahn, Mozhgan Heyman, Benjamin Glaser
BACKGROUND: Reduced sensitivity to thyroid hormone (RSTH) syndrome describes a group of rare heterogeneous genetic disorders. Precise diagnosis is essential to avoid unnecessary treatment. OBJECTIVES: To identify and characterize previously undiagnosed patients with RSTH in Israel. METHODS: Patients with suspected RSTH throughout Israel were referred for study. After clinical evaluation, genomic DNA was obtained and all coding exons of the thyroid hormone receptor beta (THRB) gene were sequenced...
November 2018: Israel Medical Association Journal: IMAJ
Haifa Rachdi, Amina Mokrani, Rim Batti, Mouna Ayadi, Nesrine Chraiet, Amel Mezlini
Breast cancer is the first cancer in women worldwide. Since the previous estimates of WHO in 2008, incidence is increasing and it is estimated that 30% of women will develop immediately a metastatic form. However, advances in molecular biology and the discovery of new therapies have extended significantly the survival of patients and improved the quality of life of patients with metastatic breast cancer. The study of gene expression and protein profile has resulted in a finer classification of breast cancer and adapt the treatment of patients according to their molecular profiles...
August 2018: La Tunisie Médicale
Theresa A Lusardi, Jack T Wiedrick, Molly Malone, Jay I Phillips, Ursula S Sandau, Babett Lind, Joseph F Quinn, Jodi A Lapidus, Julie A Saugstad
MicroRNAs (miRNAs) are small non-coding RNAs that regulate post-transcriptional gene expression. Recent studies have shown that human disease states correlate with measurable differences in the level of circulating miRNAs relative to healthy controls. Thus, there is great interest in developing clinical miRNA assays as diagnostic or prognostic biomarkers for diseases, and as surrogate measures for therapeutic outcomes. Our studies have focused on miRNAs in human cerebral spinal fluid (CSF) as biomarkers for central nervous system (CNS) diseases...
November 14, 2018: Molecular Neurobiology
Marija Zekušić, Ana Škaričić, Ksenija Fumić, Dunja Rogić, Tamara Žigman, Danijela Petković Ramadža, Nenad Vukojević, Véronique Rüfenacht, Valentina Uroić, Ivo Barić
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT). Hyperornithinemia causes degeneration of the retina with symptoms like myopia, reduced night vision and progressive vision loss. Our patient is a 10-year-old girl with impaired vision and strabismus. As part of the metabolic work-up, plasma amino acid analysis revealed significantly increased concentration of ornithine (1039 μmol/L; reference interval 20 - 155 μmol/L)...
October 15, 2018: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
Benjamin J Matthews, Olga Dudchenko, Sarah B Kingan, Sergey Koren, Igor Antoshechkin, Jacob E Crawford, William J Glassford, Margaret Herre, Seth N Redmond, Noah H Rose, Gareth D Weedall, Yang Wu, Sanjit S Batra, Carlos A Brito-Sierra, Steven D Buckingham, Corey L Campbell, Saki Chan, Eric Cox, Benjamin R Evans, Thanyalak Fansiri, Igor Filipović, Albin Fontaine, Andrea Gloria-Soria, Richard Hall, Vinita S Joardar, Andrew K Jones, Raissa G G Kay, Vamsi K Kodali, Joyce Lee, Gareth J Lycett, Sara N Mitchell, Jill Muehling, Michael R Murphy, Arina D Omer, Frederick A Partridge, Paul Peluso, Aviva Presser Aiden, Vidya Ramasamy, Gordana Rašić, Sourav Roy, Karla Saavedra-Rodriguez, Shruti Sharan, Atashi Sharma, Melissa Laird Smith, Joe Turner, Allison M Weakley, Zhilei Zhao, Omar S Akbari, William C Black, Han Cao, Alistair C Darby, Catherine A Hill, J Spencer Johnston, Terence D Murphy, Alexander S Raikhel, David B Sattelle, Igor V Sharakhov, Bradley J White, Li Zhao, Erez Lieberman Aiden, Richard S Mann, Louis Lambrechts, Jeffrey R Powell, Maria V Sharakhova, Zhijian Tu, Hugh M Robertson, Carolyn S McBride, Alex R Hastie, Jonas Korlach, Daniel E Neafsey, Adam M Phillippy, Leslie B Vosshall
Female Aedes aegypti mosquitoes infect more than 400 million people each year with dangerous viral pathogens including dengue, yellow fever, Zika and chikungunya. Progress in understanding the biology of mosquitoes and developing the tools to fight them has been slowed by the lack of a high-quality genome assembly. Here we combine diverse technologies to produce the markedly improved, fully re-annotated AaegL5 genome assembly, and demonstrate how it accelerates mosquito science. We anchored physical and cytogenetic maps, doubled the number of known chemosensory ionotropic receptors that guide mosquitoes to human hosts and egg-laying sites, provided further insight into the size and composition of the sex-determining M locus, and revealed copy-number variation among glutathione S-transferase genes that are important for insecticide resistance...
November 14, 2018: Nature
Manisha Biswal, Kamran Zaman, Vikas Suri, Harshith Rao, Abhay Kumar, Gaurav Kapur, Navneet Sharma, Ashish Bhalla, M Jayashree
Scrub typhus caused by Orientia tsutsugamushi presents as an acute febrile illness with a varied presentation from mild illness to fatal disease in the absence of appropriate antibiotic treatment. Performing polymerase chain reaction (PCR) on eschar sample acts a rapid diagnostic tool in the early stage of scrub typhus when blood is negative. A total of eight patients from whom both whole blood and eschar samples were collected and tested by nested PCR targeting 56 kDa trichostatin A (TSA) gene to detect O...
July 2018: Indian Journal of Medical Microbiology
Bradley Icard, Douglas J Grider, Sameh Aziz, Edmundo Rubio
Hyalinizing clear cell carcinomas (HCCC), now referred to as clear cell carcinomas (CCC) by the World Health Organization (WHO), are rare tumors usually arising from the salivary glands of the head and neck. We present the first case of a CCC originating from the trachea. A 66 year-old woman with history of hypertension, former smoker, presented to the emergency department reporting worsening shortness of breath. Computed chest tomography revealed a polypoid mass arising from the left posterior-lateral wall of the trachea...
November 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
Jin Li, Weiwei Hu, Fengling Zhang, Min Li, Chenglong Rao, Weiping Lu
Since Burkholderia thailandensis is included in the reference spectra of the VITEK MS libraries rather than Burkholderia pseudomallei, B. pseudomallei cannot be correctly identified in the current version of VITEK MS. This study was undertaken to evaluate the utility of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) with the VITEK MS plus system in the detection of B. pseudomallei and B. thailandensis isolates. For each species, we increased the reference spectra, and then, a SuperSpectrum was created based on the selection of 39 specific masses...
November 13, 2018: European Journal of Clinical Microbiology & Infectious Diseases
Mehdi Najar, Yassine Ouhaddi, Fatima Bouhtit, Rahma Melki, Hassan Afif, Noureddine Boukhatem, Makram Merimi, Hassan Fahmi
OBJECTIVE AND DESIGN: Bone marrow mesenchymal stromal cells (BM-MSCs) are referred as a promising immunotherapeutic cell product. New approaches using empowered MSCs should be developed as for the treatment or prevention of different immunological diseases. Such preconditioning by new licensing stimuli will empower the immune fate of BM-MSCs and, therefore, promote a better and more efficient biological. Here, our main goal was to establish the immunological profile of BM-MSCs following inflammatory priming and in particular their capacity to adjust their immune-related proteome and transcriptome...
November 14, 2018: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
Nasr-Eldin M Aref, Abdel-Raheem A Abdel-Raheem, Hanaa F Kamaly, Soher Z Hussien
The present study was carried out to characterize pathogenic E. coli in apparently healthy and diarrheic neonatal calves with special reference to the hybrid E. coli strains and evaluate their clinical and hematobiochemical consequences. One hundred and seventy calves (age 1-30 days) were divided into two groups: apparently healthy (n = 70) and diarrheic (n=100). Animals were subjected to thorough clinical, hematobiochemical and bacteriological examinations. Clinically, diarrheic calves showed various degree of diarrhea with the presence of cardinal signs of dehydration in moderate and severe cases...
2018: Open Veterinary Journal
Wenlei Fan, Lingyang Xu, Hong Cheng, Ming Li, Hehe Liu, Yong Jiang, Yuming Guo, Zhengkui Zhou, Shuisheng Hou
Short tandem repeats (STRs) are usually associated with genetic diseases and gene regulatory functions, and are also important genetic markers for analysis of evolutionary, genetic diversity and forensic. However, for the majority of STRs in the duck genome, their population genetic properties and functional impacts remain poorly defined. Recent advent of next generation sequencing (NGS) has offered an opportunity for profiling large numbers of polymorphic STRs. Here, we reported a population-scale analysis of STR variation using genome resequencing in mallard and Pekin duck...
2018: Frontiers in Genetics
Raphael N Sieber, Robert L Skov, Jens Nielsen, Jana Schulz, Lance B Price, Frank M Aarestrup, Anders R Larsen, Marc Stegger, Jesper Larsen
The spread of livestock-associated methicillin-resistant Staphylococcus aureus clonal complex 398 (LA-MRSA CC398) within the Danish pig production system has been linked to an increased number of human infections. Yet, the population structure and transmission dynamics of this important pathogen remain poorly understood. In this study, whole-genome sequences from 371 LA-MRSA CC398 isolates collected between 2004 and 2015 were subjected to bioinformatic analyses. The isolates originated from Danish pig farms ( n = 209) and people having livestock contact ( n = 79)...
November 13, 2018: MBio
Xiaoquan Su, Gongchao Jing, Daniel McDonald, Honglei Wang, Zengbin Wang, Antonio Gonzalez, Zheng Sun, Shi Huang, Jose Navas, Rob Knight, Jian Xu
With the expansion of microbiome sequencing globally, a key challenge is to relate new microbiome samples to the existing space of microbiome samples. Here, we present Microbiome Search Engine (MSE), which enables the rapid search of query microbiome samples against a large, well-curated reference microbiome database organized by taxonomic similarity at the whole-microbiome level. Tracking the microbiome novelty score (MNS) over 8 years of microbiome depositions based on searching in more than 100,000 global 16S rRNA gene amplicon samples, we detected that the structural novelty of human microbiomes is approaching saturation and likely bounded, whereas that in environmental habitats remains 5 times higher...
November 13, 2018: MBio
Quan Zou, Pengwei Xing, Leyi Wei, Bin Liu
N6-methyladenosine (m6A) refers to methylation modification of the adenosine nucleotide acid at the nitrogen-6 position. Many conventional computational methods for identifying N6-methyladenosine sites are limited by the small amount of data available. Taking advantage of the thousands of m6A sites detected by high-throughput sequencing, it is now possible to discover the characteristics of m6A sequences using deep learning techniques. To the best of our knowledge, our work is the first attempt to use word embedding and deep neural networks for m6A prediction from mRNA sequences...
November 13, 2018: RNA
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