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https://www.readbyqxmd.com/read/28820991/robust-evaluation-of-performance-monitoring-options-for-ozone-disinfection-in-water-recycling-using-bayesian-analysis
#1
Guido Carvajal, Amos Branch, Philipp Michel, Scott A Sisson, David J Roser, Jörg E Drewes, Stuart J Khan
Ozonation of wastewater has gained popularity because of its effectiveness in removing colour, UV absorbance, trace organic chemicals, and pathogens. Due to the rapid reaction of ozone with organic compounds, dissolved ozone is often not measurable and therefore, the common disinfection controlling parameter, concentration integrated over contact time (CT) cannot be obtained. In such cases, alternative parameters have been shown to be useful as surrogate measures for microbial removal including change in UV254 absorbance (ΔUVA), change in total fluorescence (ΔTF), or O3:TOC (or O3:DOC)...
August 1, 2017: Water Research
https://www.readbyqxmd.com/read/28820863/improvements-in-resilience-stress-and-somatic-symptoms-following-online-resilience-training-a-dose-response-effect
#2
Brad Smith, Andrew Shatté, Adam Perlman, Michael Siers, Wendy D Lynch
OBJECTIVE: To determine if participation in an online resilience program impacts resilience, stress, and somatic symptoms. METHODS: Approximately 600 enrollees in the meQuilibrium resilience program received a series of brief, individually prescribed video, and text training modules in a user-friendly format. Regression models tested how time in the program affected change in resilience from baseline and how changes in resilience affected change in stress and reported symptoms...
August 17, 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28820751/importance-of-pcr-based-tumor-testing-in-the-evaluation-of-lynch-syndrome-associated-endometrial-cancer
#3
Amanda S Bruegl, Annessa Kernberg, Russell R Broaddus
Lynch syndrome (LS) is a hereditary cancer syndrome caused by a germline mutation in a DNA mismatch repair gene, usually MLH1, MSH2, MSH6, or PMS2. The most common cancers associated with LS are colorectal adenocarcinoma and endometrial carcinoma. Identification of women with LS-associated endometrial cancer is important, as these women and their affected siblings and children are at-risk of developing these same cancers. Germline testing of all endometrial cancer patients is not cost effective, and screening using young age of cancer diagnosis and/or presence of family history of syndrome-associated is underutilized and ineffective...
August 17, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28819720/immunohistochemical-null-phenotype-for-mismatch-repair-proteins-in-colonic-carcinoma-associated-with-concurrent-mlh1-hypermethylation-and-msh2-somatic-mutations
#4
Tao Wang, Zsofia K Stadler, Liying Zhang, Martin R Weiser, Olca Basturk, Jaclyn F Hechtman, Efsevia Vakiani, Lenard B Saltz, David S Klimstra, Jinru Shia
Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficiency in solid tumors. The IHC test, however, can show varied staining patterns, posing challenges in the interpretation of the staining results in some cases. Here we report a case of an 80-year-old female with a colonic adenocarcinoma that exhibited an unusual "null" IHC staining pattern with complete loss of all four MMR proteins (MLH1, MSH2, MSH6, and PMS2)...
August 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28819700/sporadic-endometrial-adenocarcinoma-with-mmr-deficiency-due-to-biallelic-msh2-somatic-mutations
#5
Bruno Buecher, Antoine De Pauw, Louis Bazire, Claude Houdayer, Alice Fievet, Virginie Moncoutier, Fereshteh Farkhondeh, Samia Melaabi, Dominique Stoppa Lyonnet, Lisa Golmard
The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigenetic silencing of MLH1 gene. It is also observed in virtually all tumors occurring in patients with Lynch syndrome by monoallelic germline mutation in one of the MMR genes. The determination of this phenotype (dMMR vs...
August 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28819569/a-study-on-il8rb-gene-polymorphism-as-a-potential-immuno-compromised-adherent-in-exaggeration-of-parenteral-and-mammo-crine-oxidative-stress-during-mastitis-in-buffalo
#6
S M El Nahas, A H El Kasas, A A Abou Mossallem, M I Abdelhamid, Mohamad Warda
The genetic markers in inflammatory responses during mastitis afford a reasonable way for improving milk production in the Egyptian buffalo breed. Among them is the interleukin 8 Receptor Gene (IL8RB) (CXCR2); a chemokine receptor gene augments the neutrophil migration during infection. To understand its role better during mastitis in Egyptian buffalos, twenty-five dairy animals representing the normal, sub-clinically, clinically and chronically affected buffalos were randomly selected from different districts...
November 2017: Journal of Advanced Research
https://www.readbyqxmd.com/read/28819308/an-optimal-mean-based-block-robust-feature-extraction-method-to-identify-colorectal-cancer-genes-with-integrated-data
#7
Jian Liu, Yuhu Cheng, Xuesong Wang, Lin Zhang, Hui Liu
It is urgent to diagnose colorectal cancer in the early stage. Some feature genes which are important to colorectal cancer development have been identified. However, for the early stage of colorectal cancer, less is known about the identity of specific cancer genes that are associated with advanced clinical stage. In this paper, we conducted a feature extraction method named Optimal Mean based Block Robust Feature Extraction method (OMBRFE) to identify feature genes associated with advanced colorectal cancer in clinical stage by using the integrated colorectal cancer data...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819177/comparative-transcriptome-analysis-of-se-initial-dedifferentiation-in-cotton-of-different-se-capability
#8
Aiping Cao, Yinying Zheng, Yu Yu, Xuwen Wang, Dongnan Shao, Jie Sun, Baiming Cui
Somatic embryogenesis (SE) is a critical transition from vegetative to embryogenic growth in higher plants; however, few studies have investigated the mechanism that regulates SE initial differentiation. Most cotton varieties have not undergone regeneration by SE, so only a few varieties can be used in genetic engineering. Here, two varieties of cotton with different SE capabilities (HD, higher differentiation and LD, lower differentiation) were analyzed by high throughout RNA-Seq at the pre-induction stage (0h) and two induction stages (3h and 3d) under callus-induction medium (CIM)...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819132/treatment-associated-changes-of-functional-connectivity-of-midbrain-brainstem-nuclei-in-major-depressive-disorder
#9
Gerd Wagner, Feliberto de la Cruz, Stefanie Köhler, Karl-Jürgen Bär
Previous functional magnetic resonance imaging (fMRI) studies demonstrated an abnormally coordinated network functioning in Major Depression Disorder (MDD) during rest. The main monoamine-producing nuclei within midbrain/brainstem are functionally integrated within these specific networks. Therefore, we aimed to investigate the resting-state functional connectivity (RSFC) of these nuclei in 45 MDD patients and differences between patients receiving two different classes of antidepressant drugs. Patients showed reduced RSFC from the ventral tegmental area (VTA) to dorsal anterior cingulate cortex (dACC) and stronger RSFC to the left amygdala and dorsolateral prefrontal cortex (DLPFC)...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818938/comprehensive-single-cell-transcriptional-profiling-of-a-multicellular-organism
#10
Junyue Cao, Jonathan S Packer, Vijay Ramani, Darren A Cusanovich, Chau Huynh, Riza Daza, Xiaojie Qiu, Choli Lee, Scott N Furlan, Frank J Steemers, Andrew Adey, Robert H Waterston, Cole Trapnell, Jay Shendure
To resolve cellular heterogeneity, we developed a combinatorial indexing strategy to profile the transcriptomes of single cells or nuclei, termed sci-RNA-seq (single-cell combinatorial indexing RNA sequencing). We applied sci-RNA-seq to profile nearly 50,000 cells from the nematode Caenorhabditis elegans at the L2 larval stage, which provided >50-fold "shotgun" cellular coverage of its somatic cell composition. From these data, we defined consensus expression profiles for 27 cell types and recovered rare neuronal cell types corresponding to as few as one or two cells in the L2 worm...
August 18, 2017: Science
https://www.readbyqxmd.com/read/28818857/modeling-inborn-errors-of-hepatic-metabolism-using-induced-pluripotent-stem-cells
#11
REVIEW
Behshad Pournasr, Stephen A Duncan
Inborn errors of hepatic metabolism are because of deficiencies commonly within a single enzyme as a consequence of heritable mutations in the genome. Individually such diseases are rare, but collectively they are common. Advances in genome-wide association studies and DNA sequencing have helped researchers identify the underlying genetic basis of such diseases. Unfortunately, cellular and animal models that accurately recapitulate these inborn errors of hepatic metabolism in the laboratory have been lacking...
August 17, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28818835/src-dependent-phosphorylation-of-%C3%AE-opioid-receptor-at-tyr-336-modulates-opiate-withdrawal
#12
Lei Zhang, Cherkaouia Kibaly, Yu-Jun Wang, Chi Xu, Kyu Young Song, Patrick W McGarrah, Horace H Loh, Jing-Gen Liu, Ping-Yee Law
Opiate withdrawal/negative reinforcement has been implicated as one of the mechanisms for the progression from impulsive to compulsive drug use. Increase in the intracellular cAMP level and protein kinase A (PKA) activities within the neurocircuitry of addiction has been a leading hypothesis for opiate addiction. This increase requires the phosphorylation of μ-opioid receptor (MOR) at Tyr(336) by Src after prolonged opiate treatment in vitro Here, we report that the Src-mediated MOR phosphorylation at Tyr(336) is a prerequisite for opiate withdrawal in mice...
August 17, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28818620/secrets-from-immortal-worms-what-can-we-learn-about-biological-ageing-from-the-planarian-model-system
#13
REVIEW
Sounak Sahu, Anish Dattani, A Aziz Aboobaker
Understanding how some animals are immortal and avoid the ageing process is important. We currently know very little about how they achieve this. While research in genetic model systems has revealed the existence of conserved genetic pathways and molecular processes that affect longevity. Most of these studies have been performed in established model organisms, amenable to both classical and molecular genetic approaches, with relatively short lifespans. Here we consider the use of planarians, with an immortal life-history that is able to entirely avoid the ageing process...
August 14, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28818608/potential-resistance-mechanisms-revealed-by-targeted-sequencing-from-lung-adenocarcinoma-patients-with-primary-resistance-to-epidermal-growth-factor-receptor-egfr-tyrosine-kinase-inhibitors-tkis
#14
Jia Zhong, Lei Li, Zhijie Wang, Hua Bai, Gai Fei, Jian Chunduan, Jun Zhao, Minglei Zhuo, Yuyang Wang, Shuhang Wang, Wanchun Zang, Meina Wu, Tongtong An, Guanhua Rao, Jie Wang
BACKGROUND: EGFR-TKIs have greatly improved the prognosis of lung adenocarcinoma. However, approximately 5%-10% lung adenocarcinoma patients with EGFR sensitive mutations have primary resistance to EGFR-TKIs treatment. The underlying mechanism is unknown. METHODS: This study used next-generation sequencing (NGS) to explore the mechanisms of primary resistance by analyzing 11 patients with primary resistance and 11 patients sensitive to EGFR-TKIs. NGS targeted sequencing was performed on the Illumina X platform for 483 cancer-related genes...
August 14, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28818477/human-imprinting-disorders-principles-practice-problems-and-progress
#15
REVIEW
Deborah J G Mackay
Epigenetic regulation orchestrates gene expression with exquisite precision, over a huge dynamic range and across developmental space and time, permitting genomically-homogeneous humans to develop and adapt to their surroundings. Every generation, these epigenetic marks are re-set twice: in the germline, to enable differentiation of sperm and eggs, and at fertilisation, to create the totipotent zygote that then begins growth and differentiation into a new human. A small group of genes evades the second, zygotic wave of epigenetic reprogramming, and these genes retain an epigenetic 'imprint' of the parent from whom they were inherited...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28818208/catecholamine-dependent-%C3%AE-adrenergic-signaling-in-a-pluripotent-stem-cell-model%C3%A2-of-takotsubo-cardiomyopathy
#16
Thomas Borchert, Daniela Hübscher, Celina I Guessoum, Tuan-Dinh D Lam, Jelena R Ghadri, Isabel N Schellinger, Malte Tiburcy, Norman Y Liaw, Yun Li, Jan Haas, Samuel Sossalla, Mia A Huber, Lukas Cyganek, Claudius Jacobshagen, Ralf Dressel, Uwe Raaz, Viacheslav O Nikolaev, Kaomei Guan, Holger Thiele, Benjamin Meder, Bernd Wollnik, Wolfram-Hubertus Zimmermann, Thomas F Lüscher, Gerd Hasenfuss, Christian Templin, Katrin Streckfuss-Bömeke
BACKGROUND: Takotsubo syndrome (TTS) is characterized by an acute left ventricular dysfunction and is associated with life-threating complications in the acute phase. The underlying disease mechanism in TTS is still unknown. A genetic basis has been suggested to be involved in the pathogenesis. OBJECTIVES: The aims of the study were to establish an in vitro induced pluripotent stem cell (iPSC) model of TTS, to test the hypothesis of altered β-adrenergic signaling in TTS iPSC-cardiomyocytes (CMs), and to explore whether genetic susceptibility underlies the pathophysiology of TTS...
August 22, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28817824/parametric-linkage-analysis-identifies-five-novel-genome-wide-significant-loci-for-familial-lung-cancer
#17
Anthony M Musolf, Claire L Simpson, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y Kupert, Marshall W Anderson, Ann G Schwartz, Susan M Pinney, Christopher I Amos, Joan E Bailey-Wilson
OBJECTIVE: One of four American cancer patients dies of lung cancer. Environmental factors such as tobacco smoking are known to affect lung cancer risk. However, there is a genetic factor to lung cancer risk as well. Here, we perform parametric linkage analysis on family-based genotype data in an effort to find genetic loci linked to the disease. METHODS: 197 individuals from families with a high-risk history of lung cancer were recruited and genotyped using an Illumina array...
August 18, 2017: Human Heredity
https://www.readbyqxmd.com/read/28817688/the-extremely-divergent-maternally-and-paternally-transmitted-mitochondrial-genomes-are-co-expressed-in-somatic-tissues-of-two-freshwater-mussel-species-with-doubly-uniparental-inheritance-of-mtdna
#18
Sophie Breton, Karim Bouvet, Gabrielle Auclair, Stéphanie Ghazal, Bernard E Sietman, Nathan Johnson, Stefano Bettinazzi, Donald T Stewart, Davide Guerra
Freshwater mussel species with doubly uniparental inheritance (DUI) of mtDNA are unique because they are naturally heteroplasmic for two extremely divergent mtDNAs with ~50% amino acid differences for protein-coding genes. The paternally-transmitted mtDNA (or M mtDNA) clearly functions in sperm in these species, but it is still unknown whether it is transcribed when present in male or female soma. In the present study, we used PCR and RT-PCR to detect the presence and expression of the M mtDNA in male and female somatic and gonadal tissues of the freshwater mussel species Venustaconcha ellipsiformis and Utterbackia peninsularis (Unionidae)...
2017: PloS One
https://www.readbyqxmd.com/read/28815939/paternal-transmission-of-a-fmr1-full-mutation-allele
#19
Maria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, Irene Madrigal, Elisabeth Gabau, Montserrat Milà
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired via maternal meiosis, while paternal transmission always remains in the PM range. We present a 16-year-old girl with a mild fragile X syndrome phenotype...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815456/recommendations-for-biomarker-testing-in-epithelial-ovarian-cancer-a-national-consensus-statement-by-the-spanish-society-of-pathology-and-the-spanish-society-of-medical-oncology
#20
A Oaknin, R Guarch, P Barretina, D Hardisson, A González, X Matías-Guiu, A Pérez-Fidalgo, B Vieites, I Romero, J Palacios
Because of advances in the understanding of histological and molecular characteristics in ovarian cancer, it is now possible to recognize the existence of five subtypes, which in turn has allowed a more refined therapeutic approach and better design of clinical trials. Each of these five subtypes has specific histological features and a particular biomarker expression, as well as mutations in different genes, some of which have prognostic and predictive value. CA125 and HE4 are examples of ovarian cancer biomarkers used in the diagnosis and follow-up of these malignancies...
August 16, 2017: Clinical & Translational Oncology
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