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https://www.readbyqxmd.com/read/28646449/occurrence-of-pepper-mild-mottle-virus-pmmov-in-groundwater-from-a-karst-aquifer-system-in-the-yucatan-peninsula-mexico
#1
Gabriela Rosiles-González, Gerardo Ávila-Torres, Oscar A Moreno-Valenzuela, Gilberto Acosta-González, Rosa María Leal-Bautista, Cinthya D Grimaldo-Hernández, Judith K Brown, Cristóbal Chaidez-Quiroz, Walter Q Betancourt, Charles P Gerba, Cecilia Hernández-Zepeda
The Yucatan Peninsula of Mexico hosts a karst aquifer system that is the only source of freshwater for the area; however, it is vulnerable to human-mediated contamination. Pepper mild mottle virus (PMMoV) is one of the most abundant RNA viruses associated with human feces, making it a viable indicator for tracking fecal pollution in aquatic environments, including groundwater. In this study, groundwater samples collected from a karst aquifer from fresh and brackish water locations were analyzed for fecal indicator bacteria, somatic and male F+ specific coliphages, and PMMoV during the rainy and dry seasons...
June 23, 2017: Food and Environmental Virology
https://www.readbyqxmd.com/read/28646317/di-n-butyl-phthalate-prompts-interruption-of-spermatogenesis-steroidogenesis-and-fertility-associated-with-increased-testicular-oxidative-stress-in-adult-male-rats
#2
Giribabu Nelli, Sreenivasula Reddy Pamanji
Di-n-butyl phthalate (DBP) is extensively used as plasticizer, and it was ubiquitary released into the environment. The present study was aimed to investigate the effect of DBP on reproductive competence in adult male rats. Adult male rats were received corn oil or DBP injection intraperitoneally (ip) at 100 and 500 mg/kg body weight on 90, 97, 104, and 111 days. Following completion of the experimental period, adult male rats were cohabitated with untreated proestrus female rats for determination of fertilization capacity...
June 24, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28645308/neonatal-aav-delivery-of-alpha-synuclein-induces-pathology-in-the-adult-mouse-brain
#3
Marion Delenclos, Ayman H Faroqi, Mei Yue, Aishe Kurti, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Dennis W Dickson, John D Fryer, Pamela J McLean
Abnormal accumulation of alpha-synuclein (αsyn) is a pathological hallmark of Lewy body related disorders such as Parkinson's disease and Dementia with Lewy body disease. During the past two decades, a myriad of animal models have been developed to mimic pathological features of synucleinopathies by over-expressing human αsyn. Although different strategies have been used, most models have little or no reliable and predictive phenotype. Novel animal models are a valuable tool for understanding neuronal pathology and to facilitate development of new therapeutics for these diseases...
June 23, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#4
REVIEW
Mouhab Ayas
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28644851/comorbidities-in-the-diseasome-are-more-apparent-than-real-what-bayesian-filtering-reveals-about-the-comorbidities-of-depression
#5
Peter Marx, Peter Antal, Bence Bolgar, Gyorgy Bagdy, Bill Deakin, Gabriella Juhasz
Comorbidity patterns have become a major source of information to explore shared mechanisms of pathogenesis between disorders. In hypothesis-free exploration of comorbid conditions, disease-disease networks are usually identified by pairwise methods. However, interpretation of the results is hindered by several confounders. In particular a very large number of pairwise associations can arise indirectly through other comorbidity associations and they increase exponentially with the increasing breadth of the investigated diseases...
June 23, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28644841/low-dimensional-spike-rate-models-derived-from-networks-of-adaptive-integrate-and-fire-neurons-comparison-and-implementation
#6
Moritz Augustin, Josef Ladenbauer, Fabian Baumann, Klaus Obermayer
The spiking activity of single neurons can be well described by a nonlinear integrate-and-fire model that includes somatic adaptation. When exposed to fluctuating inputs sparsely coupled populations of these model neurons exhibit stochastic collective dynamics that can be effectively characterized using the Fokker-Planck equation. This approach, however, leads to a model with an infinite-dimensional state space and non-standard boundary conditions. Here we derive from that description four simple models for the spike rate dynamics in terms of low-dimensional ordinary differential equations using two different reduction techniques: one uses the spectral decomposition of the Fokker-Planck operator, the other is based on a cascade of two linear filters and a nonlinearity, which are determined from the Fokker-Planck equation and semi-analytically approximated...
June 23, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28644726/cytotoxic-and-genotoxic-actions-of-casiopeina-iii-ea-cas-iii-ea-in-somatic-and-germ-cells-of-drosophila-melanogaster
#7
L M Vidal, E Pimentel, M P Cruces, S Hernández, L Ruiz-Azuara
Casiopeinas® are a group of newly synthesized drugs designed to treat cancer. These copper (Cu) complexes exhibit cytostatic, cytotoxic, genotoxic, and antineoplastic activities through different mechanisms of action. To evaluate the influence of these compounds, some in vivo studies were performed using predominantly somatic cells. The aim of the present study was to examine the cytotoxic and genotoxic actions of Casiopeina III-Ea (Cas III-Ea) in somatic as well as germ cells of Drosophila melanogaster. For cytotoxicity, the productivity and some morphometric parameters were measured and genotoxicity was assessed by means of the somatic mutation and recombination test assay in the wing...
June 23, 2017: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/28644715/biological-responses-of-the-american-coot-fulica-americana-in-wetlands-with-contrasting-environmental-conditions-basin-of-m%C3%A3-xico
#8
María Eugenia López-Islas, Itzel Ibarra-Meza, Esperanza Ortiz-Ordóñez, Liliana Favari, J Elías Sedeño-Díaz, Eugenia López-López
Wetland ecosystems are subject to severe impacts (physical and chemical) and to the input of various xenobiotics that provoke toxicological consequences. Waterbirds are potential sentinel species of these environments. To analyze how habitat conditions affect the health of Fulica americana, early-warning biomarkers, histopathology, somatic indices, and water quality were examined in two wetlands of the Basin of Mexico: Xochimilco, an urban wetland highly eutrophic with a mixture of pollutants, and Tecocomulco (the reference site), a rural wetland with hunting migratory birds in winter, and with some agricultural contaminants...
June 23, 2017: Journal of Toxicology and Environmental Health. Part A
https://www.readbyqxmd.com/read/28644312/early-infections-and-the-risk-of-irritable-bowel-syndrome-a-case-control-study
#9
Edward J Krajicek, Ann E Almazar, Joseph J Larson, Elizabeth J Atkinson, Nicholas J Talley, Yuri A Saito
GOALS: The goal of this study is to evaluate the association between early life infections and subsequent adult onset irritable bowel syndrome (IBS). BACKGROUND: Infections during adulthood are a known risk factor for adult-onset IBS. This investigation examined the role of childhood infections and infection risk factors in the development of IBS symptoms. STUDY: In total, 1010 subjects (509 outpatients with IBS, 501 matched controls) were mailed questionnaires regarding early-life infections during infancy (0 to 12 mo), toddler years (1 to 3 y), and child years (4 to 18 y)...
June 21, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28643795/the-genomic-landscape-of-tuberous-sclerosis-complex
#10
Katie R Martin, Wanding Zhou, Megan J Bowman, Juliann Shih, Kit Sing Au, Kristin E Dittenhafer-Reed, Kellie A Sisson, Julie Koeman, Daniel J Weisenberger, Sandra L Cottingham, Steven T DeRoos, Orrin Devinsky, Mary E Winn, Andrew D Cherniack, Hui Shen, Hope Northrup, Darcy A Krueger, Jeffrey P MacKeigan
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to TSC1/TSC2 are not always observed. Here, we present the genomic landscape of TSC hamartomas. We determine that TSC lesions contain a low somatic mutational burden relative to carcinomas, a subset feature large-scale chromosomal aberrations, and highly conserved molecular signatures for each type exist...
June 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643793/genomic-rearrangements-in-sporadic-lymphangioleiomyomatosis-an-evolving-genetic-story
#11
Stephen J Murphy, Simone B Terra, Faye R Harris, Aqsa Nasir, Jesse S Voss, James B Smadbeck, Sarah H Johnson, Vishnu Serla, Jay H Ryu, Eunhee S Yi, Benjamin R Kipp, George Vasmatzis, Eva M Carmona
Sporadic lymphangioleiomyomatosis is a progressive pulmonary cystic disease resulting from the infiltration of smooth muscle-like lymphangioleiomyomatosis cells into the lung. The migratory/metastasizing properties of the lymphangioleiomyomatosis cell together with the presence of somatic mutations, primarily in the tuberous sclerosis complex gene (TSC2), lead many to consider this a low-grade malignancy. As malignant tumors characteristically accumulate somatic structural variations, which have not been well studied in sporadic lymphangioleiomyomatosis, we utilized mate pair sequencing to define structural variations within laser capture microdissected enriched lymphangioleiomyomatosis cell populations from five sporadic lymphangioleiomyomatosis patients...
June 23, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28643436/emotional-awareness-and-expression-training-improves-irritable-bowel-syndrome-a-randomized-controlled-trial
#12
E R Thakur, H J Holmes, N A Lockhart, J N Carty, M S Ziadni, H K Doherty, J M Lackner, H Schubiner, M A Lumley
BACKGROUND: Current clinical guidelines identify several psychological treatments for irritable bowel syndrome (IBS). IBS patients, however, have elevated trauma, life stress, relationship conflicts, and emotional avoidance, which few therapies directly target. We tested the effects of emotional awareness and expression training (EAET) compared to an evidence-based comparison condition-relaxation training-and a waitlist control condition. METHODS: Adults with IBS (N=106; 80% female, Mean age=36 years) were randomized to EAET, relaxation training, or waitlist control...
June 22, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28643364/development-of-clinical-paroxysmal-nocturnal-haemoglobinuria-in-children-with-aplastic-anaemia
#13
Atsushi Narita, Hideki Muramatsu, Yusuke Okuno, Yuko Sekiya, Kyogo Suzuki, Motoharu Hamada, Shinsuke Kataoka, Daisuke Ichikawa, Rieko Taniguchi, Norihiro Murakami, Daiei Kojima, Eri Nishikawa, Nozomu Kawashima, Nobuhiro Nishio, Asahito Hama, Yoshiyuki Takahashi, Seiji Kojima
The clinical significance of paroxysmal nocturnal haemoglobinuria (PNH) in children with aplastic anaemia (AA) remains unclear. We retrospectively studied 57 children with AA between 1992 and 2010. During the follow-up, five patients developed clinical PNH, in whom somatic PIGA mutations were detected by targeted sequencing. The 10-year probability of clinical PNH development was 10·2% (95% confidence interval, 3·6-20·7%). Furthermore, the detection of minor PNH clones by flow cytometry at AA diagnosis was a risk factor for the subsequent development of clinical PNH...
June 23, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28643255/genome-editing-of-pig
#14
Masahito Watanabe, Hiroshi Nagashima
Pigs are important livestock for food and have been used in various biomedical studies, particularly translational research, as experimental animals because of their anatomical and physiological similarity to humans. The recent development of genome editing techniques, such as ZFN, TALEN, and CRISPR/Cas9, has rapidly expanded the use of genome editing tools in a variety of animals, resulting in the relatively easy and efficient generation of gene knock-out pigs. In the past few years, there has been a sustained increase in reports describing the development of genetically modified pigs...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28643234/body-mass-disorders-in-healthy-short-children-and-in-children-with-growth-hormone-deficiency
#15
Paweł Tomaszewski, Katarzyna Milde, Anna Majcher, Beata Pyrżak, Gul Tiryaki-Sonmez, Brad J Schoenfeld
The aim of the study was to determine the degree of adiposity and the incidence of body mass disorders, including abdominal obesity, in healthy short children and children with growth hormone deficiency. The study included 134 short children (height < 10th percentile) aged 7-15. In this cohort there were 63 (31 boys and 32 girls) children without diagnosed hormonal disorders and 71 patients (35 boys and 36 girls) with growth hormone deficiency. Basic somatic features were assessed and the study participants were categorized according to the percentage of body fat (%FAT), body mass index (BMI), and waist-to-height ratio (WHtR)...
June 23, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28642787/mutational-signatures-are-critical-for-proper-estimation-of-purifying-selection-pressures-in-cancer-somatic-mutation-data-when-using-the-dn-ds-metric
#16
Jimmy Van den Eynden, Erik Larsson
Large cancer genome sequencing initiatives have led to the identification of cancer driver genes based on signals of positive selection in somatic mutation data. Additionally, the identification of purifying (negative) selection has the potential to identify essential genes that may be of therapeutic interest. The most widely used way of quantifying selection pressures in protein-coding genes is the dN/dS metric, which compares non-synonymous to synonymous substitution rates. In this study, we examine whether and how this metric is influenced by the mutational processes that have been active during tumor evolution...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28642606/transposable-elements-in-cancer
#17
REVIEW
Kathleen H Burns
Transposable elements give rise to interspersed repeats, sequences that comprise most of our genomes. These mobile DNAs have been historically underappreciated - both because they have been presumed to be unimportant, and because their high copy number and variability pose unique technical challenges. Neither impediment now seems steadfast. Interest in the human mobilome has never been greater, and methods enabling its study are maturing at a fast pace. This Review describes the activity of transposable elements in human cancers, particularly long interspersed element-1 (LINE-1)...
July 2017: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/28642604/turning-the-tide-in-myelodysplastic-myeloproliferative-neoplasms
#18
REVIEW
Michael W N Deininger, Jeffrey W Tyner, Eric Solary
Myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) are aggressive myeloid malignancies recognized as a distinct category owing to their unique combination of dysplastic and proliferative features. Although current classification schemes still emphasize morphology and exclusionary criteria, disease-defining somatic mutations and/or germline predisposition alleles are increasingly incorporated into diagnostic algorithms. The developing picture suggests that phenotypes are driven mostly by epigenetic mechanisms that reflect a complex interplay between genotype, physiological processes such as ageing and interactions between malignant haematopoietic cells and the stromal microenvironment of the bone marrow...
June 23, 2017: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/28642594/differential-effects-on-gene-transcription-and-hematopoietic-differentiation-correlate-with-gata2-mutant-disease-phenotypes
#19
C-E Chong, P Venugopal, P H Stokes, Y K Lee, P J Brautigan, D T O Yeung, M Babic, G A Engler, S W Lane, M Klingler-Hoffmann, J M Matthews, R J D'Andrea, A L Brown, C N Hahn, H S Scott
Heterozygous GATA2 mutations underlie an array of complex hematopoietic and lymphatic diseases. Analysis of the literature reporting three recurrent GATA2 germline (g) mutations (gT354M, gR396Q, gR398W) revealed different phenotype tendencies. While all three mutants differentially predispose to myeloid malignancies, there was no difference in leukemia-free survival for GATA2 patients. Despite intense interest, the molecular pathogenesis of GATA2 mutation is poorly understood. We functionally characterized a GATA2 mutant allelic series representing major disease phenotypes caused by germline and somatic (s) mutations in zinc finger (ZF) 2...
June 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28642281/utility-of-genomic-analysis-in-circulating-tumor-dna-from-patients-with-carcinoma-of-unknown-primary
#20
Shumei Kato, Nithya Krishnamurthy, Kimberly C Banks, Pradip De, Kirstin Williams, Casey Williams, Brian Leyland-Jones, Scott M Lippman, Richard B Lanman, Razelle Kurzrock
Carcinoma of unknown primary (CUP) is a rare and difficult-to-treat malignancy, the management of which might be improved by the identification of actionable driver mutations. We interrogated interrogated 54-70 genes in 442 patients with CUP using targeted clinical-grade, next-generation sequencing (NGS) of circulating tumor DNA (ctDNA). Overall, 80% of patients exhibited ctDNA alterations; 66%, ≥ 1 characterized alteration(s) excluding variants of unknown significance. TP53-associated genes were most commonly altered (37...
June 22, 2017: Cancer Research
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