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https://www.readbyqxmd.com/read/28637190/evolution-of-the-sperm-methylome-of-primates-is-associated-with-retrotransposon-insertions-and-genome-instability
#1
Kei Fukuda, Yukihiro Inoguchi, Kenji Ichiyanagi, Tomoko Ichiyanagi, Yasuhiro Go, Masashi Nagano, Yojiro Yanagawa, Noboru Takaesu, Yasuyuki Ohkawa, Hiroo Imai, Hiroyuki Sasaki
Changes in gene expression resulting from epigenetic and/or genetic changes play an important role in the evolutionary divergence of phenotypes. To explore how epigenetic and genetic changes are linked during primate evolution, we have compared the genome-wide DNA methylation profiles (methylomes) of humans and chimpanzees, which have a 1.2% DNA sequence divergence, of sperm, the frontal cortices, B cells, and neutrophils. We revealed that species-specific differentially methylated regions (S-DMRs), ranging from several hundred bp to several kb, were frequently associated with sequence changes in transcription factor binding sites and insertions of Alu and SVA retrotransposons...
June 20, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28636991/non-invasive-detection-of-somatic-mutations-using-next-generation-sequencing-in-primary-central-nervous-system-lymphoma
#2
Maxime Fontanilles, Florent Marguet, Élodie Bohers, Pierre-Julien Viailly, Sydney Dubois, Philippe Bertrand, Vincent Camus, Sylvain Mareschal, Philippe Ruminy, Catherine Maingonnat, Stéphane Lepretre, Elena-Liana Veresezan, Stéphane Derrey, Hervé Tilly, Jean-Michel Picquenot, Annie Laquerrière, Fabrice Jardin
PURPOSE: Primary central nervous system lymphomas (PCNSL) have recurrent genomic alterations. The main objective of our study was to demonstrate that targeted sequencing of circulating cell-free DNA (cfDNA) released by PCNSL at the time of diagnosis could identify somatic mutations by next-generation sequencing (NGS). PATIENTS AND METHODS: PlasmacfDNA and matched tumor DNA (tDNA) from 25 PCNSL patients were sequenced using an Ion Torrent Personal Genome Machine (Life Technologies®)...
June 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636969/human-virus-derived-small-rnas-can-confer-antiviral-immunity-in-mammals
#3
Yang Qiu, Yanpeng Xu, Yao Zhang, Hui Zhou, Yong-Qiang Deng, Xiao-Feng Li, Meng Miao, Qiang Zhang, Bo Zhong, Yuanyang Hu, Fu-Chun Zhang, Ligang Wu, Cheng-Feng Qin, Xi Zhou
RNA interference (RNAi) functions as a potent antiviral immunity in plants and invertebrates; however, whether RNAi plays antiviral roles in mammals remains unclear. Here, using human enterovirus 71 (HEV71) as a model, we showed HEV71 3A protein as an authentic viral suppressor of RNAi during viral infection. When the 3A-mediated RNAi suppression was impaired, the mutant HEV71 readily triggered the production of abundant HEV71-derived small RNAs with canonical siRNA properties in cells and mice. These virus-derived siRNAs were produced from viral dsRNA replicative intermediates in a Dicer-dependent manner and loaded into AGO, and they were fully active in degrading cognate viral RNAs...
June 20, 2017: Immunity
https://www.readbyqxmd.com/read/28636954/germinal-center-selection-and-affinity-maturation-require-dynamic-regulation-of-mtorc1-kinase
#4
Jonatan Ersching, Alejo Efeyan, Luka Mesin, Johanne T Jacobsen, Giulia Pasqual, Brian C Grabiner, David Dominguez-Sola, David M Sabatini, Gabriel D Victora
During antibody affinity maturation, germinal center (GC) B cells cycle between affinity-driven selection in the light zone (LZ) and proliferation and somatic hypermutation in the dark zone (DZ). Although selection of GC B cells is triggered by antigen-dependent signals delivered in the LZ, DZ proliferation occurs in the absence of such signals. We show that positive selection triggered by T cell help activates the mechanistic target of rapamycin complex 1 (mTORC1), which promotes the anabolic program that supports DZ proliferation...
June 20, 2017: Immunity
https://www.readbyqxmd.com/read/28636946/ptbp2-controls-an-alternative-splicing-network-required-for-cell-communication-during-spermatogenesis
#5
Molly M Hannigan, Leah L Zagore, Donny D Licatalosi
Alternative splicing has essential roles in development. Remarkably, spermatogenic cells express more alternatively spliced RNAs compared to most whole tissues; however, regulation of these RNAs remains unclear. Here, we characterize the alternative splicing landscape during spermatogenesis and reveal an essential function for the RNA-binding protein Ptbp2 in this highly regulated developmental program. We found that Ptbp2 controls a network of genes involved in cell adhesion, migration, and polarity, suggesting that splicing regulation by Ptbp2 is critical for germ cell communication with Sertoli cells (multifunctional somatic cells necessary for spermatogenesis)...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28636844/clonal-hematopoiesis-and-risk-of-atherosclerotic-cardiovascular-disease
#6
Siddhartha Jaiswal, Pradeep Natarajan, Alexander J Silver, Christopher J Gibson, Alexander G Bick, Eugenia Shvartz, Marie McConkey, Namrata Gupta, Stacey Gabriel, Diego Ardissino, Usman Baber, Roxana Mehran, Valentin Fuster, John Danesh, Philippe Frossard, Danish Saleheen, Olle Melander, Galina K Sukhova, Donna Neuberg, Peter Libby, Sekar Kathiresan, Benjamin L Ebert
Background Clonal hematopoiesis of indeterminate potential (CHIP), which is defined as the presence of an expanded somatic blood-cell clone in persons without other hematologic abnormalities, is common among older persons and is associated with an increased risk of hematologic cancer. We previously found preliminary evidence for an association between CHIP and atherosclerotic cardiovascular disease, but the nature of this association was unclear. Methods We used whole-exome sequencing to detect the presence of CHIP in peripheral-blood cells and associated such presence with coronary heart disease using samples from four case-control studies that together enrolled 4726 participants with coronary heart disease and 3529 controls...
June 21, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28636572/mood-symptoms-in-stabilized-patients-with-schizophrenia-a-bipolar-type-with-predominant-psychotic-features
#7
Konstantinos N Fountoulakis, Dina Popovic, Mariela Mosheva, Melina Siamouli, Katerina Moutou, Xenia Gonda
BACKGROUND: Schizophrenia (SZ) and bipolar disorder (BD) are traditionally distinguished on the basis of progressive deterioration and long-term outcome, but a more dimensional approach is warranted. There are limited data on the occurrence of manic symptoms in patients with schizophrenia. The aim of the current study was to search for patterns in the clinical symptomatology, which may suggest the presence of one or several mood disorders under the label of schizophrenia. SUBJECTS AND METHODS: Hundred-seventy-five patients diagnosed with schizophrenia according to DSM-5 were included in the study...
June 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28636297/-supportive-care-in-oncology-a-real-change-for-patients
#8
Alex Friedlaender, Samuel Blaser, Christophe Luthy, Angela Pugliesi Rinaldi
With the increased incidence of cancers due to an aging population, and a prolonged survival thanks to advances in cancer treatments, new therapeutic challenges have arisen. The management of symptoms, the tolerance of increasingly effective oncologic treatments and, finally, quality of life are central concerns of patients and their loved ones. Supportive care in oncology has helped meet these challenges, offering a holistic approach, encompassing somatic, psychiatric and social aid. Inaugurated in 2005, the oncologic supportive care unit of the Geneva University Hospitals allows many cancer patients access to a team of multidisciplinary care-givers to help meet their needs...
May 17, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28636279/effects-of-in-ovo-injection-of-chrysin-quercetin-and-ascorbic-acid-on-hatchability-somatic-attributes-hepatic-oxidative-status-and-early-post-hatch-performance-of-broiler-chicks
#9
F Khaligh, A Hassanabadi, H Nassiri-Moghaddam, A Golian, G-A Kalidari
An experiment was conducted to evaluate the effects of in ovo injection of chrysin, quercetin and ascorbic acid on hatchability, somatic attributes, hepatic antioxidant status and early post-hatch growth performance of broiler chicks. Four hundred and eighty embryonated broiler breeder eggs containing live 18-day-old embryos were divided into six groups of 80 eggs each. One group remained intact and served as a control group (i), whereas the other five groups were injected with the prepared injection solutions as follows: (ii) 0...
June 21, 2017: Journal of Animal Physiology and Animal Nutrition
https://www.readbyqxmd.com/read/28635960/somatic-mutations-in-clonally-expanded-cytotoxic-t-lymphocytes-in-patients-with-newly-diagnosed-rheumatoid-arthritis
#10
P Savola, T Kelkka, H L Rajala, A Kuuliala, K Kuuliala, S Eldfors, P Ellonen, S Lagström, M Lepistö, T Hannunen, E I Andersson, R K Khajuria, T Jaatinen, R Koivuniemi, H Repo, J Saarela, K Porkka, M Leirisalo-Repo, S Mustjoki
Somatic mutations contribute to tumorigenesis. Although these mutations occur in all proliferating cells, their accumulation under non-malignant conditions, such as in autoimmune disorders, has not been investigated. Here, we show that patients with newly diagnosed rheumatoid arthritis have expanded CD8+ T-cell clones; in 20% (5/25) of patients CD8+ T cells, but not CD4+ T cells, harbour somatic mutations. In healthy controls (n=20), only one mutation is identified in the CD8+ T-cell pool. Mutations exist exclusively in the expanded CD8+ effector-memory subset, persist during follow-up, and are predicted to change protein functions...
June 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28635951/new-insights-into-the-imprinted-meg8-dmr-in-14q32-and-clinical-and-molecular-description-of-novel-patients-with-temple-syndrome
#11
Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann-Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke, Karin Buiting
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially methylated regions (DMRs), the germline DLK1/MEG3 intergenic (IG)-DMR (MEG3/DLK1:IG-DMR) and the somatic MEG3-DMR (MEG3:TSS-DMR), which are methylated on the paternal and unmethylated on the maternal allele. Disruption of imprinting in the 14q32 region results in two clinically distinct imprinting disorders, Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14)...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635651/effects-of-tetrodotoxin-in-mouse-models-of-visceral-pain
#12
Rafael González-Cano, Miguel Ángel Tejada, Antonia Artacho-Cordón, Francisco Rafael Nieto, José Manuel Entrena, John N Wood, Cruz Miguel Cendán
Visceral pain is very common and represents a major unmet clinical need for which current pharmacological treatments are often insufficient. Tetrodotoxin (TTX) is a potent neurotoxin that exerts analgesic actions in both humans and rodents under different somatic pain conditions, but its effect has been unexplored in visceral pain. Therefore, we tested the effects of systemic TTX in viscero-specific mouse models of chemical stimulation of the colon (intracolonic instillation of capsaicin and mustard oil) and intraperitoneal cyclophosphamide-induced cystitis...
June 21, 2017: Marine Drugs
https://www.readbyqxmd.com/read/28635532/assessing-physical-symptoms-during-the-postpartum-period-reliability-and-validity-of-the-primary-health-questionnaire-somatic-symptom-subscale-phq-15
#13
Stephanie Wilkie, Ros Crawley, Susan Button, Alexandra Thornton, Susan Ayers
INTRODUCTION: This study aimed at establishing the reliability and validity of the primary health questionnaire (PHQ-15) somatic symptom severity subscale for postpartum women. METHODS: Women (N = 495) completed the PHQ-15 approximately 6 weeks postpartum during the baseline phase of a randomized controlled trial evaluating a writing intervention for postnatal health in England. Reliability was assessed using internal consistency statistics and convergent validity by comparing differences in self-reported physical health, health-related quality of life (QoL) and primary care usage by PHQ-15 symptom severity category...
February 20, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635509/induced-pluripotent-stem-cell-derived-dopaminergic-neurons-from-adult-common-marmoset-fibroblasts
#14
Scott C Vermilyea, Scott Guthrie, Michael Meyer, Kim Smuga-Otto, Katarina Braun, Sara Howden, James A Thomson, Su-Chun Zhang, Marina Emborg, Dr Thaddeus G Golos
The common marmoset monkey (Callithrix jacchus; Cj) is an advantageous nonhuman primate species for modeling age-related disorders, including Parkinson's disease, due to their shorter lifespan compared to macaques. Cj-derived induced pluripotent stem cells (Cj-iPSCs) from somatic cells are needed for in vitro disease modeling and testing regenerative medicine approaches. Here we report the development of a novel Cj-iPSC line derived from adult marmoset fibroblasts. The Cj-iPSCs showed potent pluripotency properties including development of mesodermal lineages in tumors after injection to immunocompromised mice, as well as ectoderm and endoderm lineages after in vitro differentiation regimens, demonstrating differentiated derivatives of all three embryonic layers...
June 21, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28635493/the-structure-of-lamin-filaments-in-somatic-cells-as-revealed-by-cryo-electron-tomography
#15
Y Turgay, O Medalia
Metazoan nuclei are equipped with nuclear lamina - a thin layer of intermediate filaments (IFs) mostly built of nuclear lamins facing the inner nuclear membrane (INM). The nuclear lamina serves as an interaction hub for INM-proteins, soluble nuclear factors and DNA. It confers structural and mechanical stability to the nucleus, transduces mechanical forces and biochemical signals across the nuclear envelope (NE) and regulates the organization of chromatin. By utilizing cryo-electron tomography (cryo-ET), we recently provided an unprecedented view into the 3D organization of lamin filaments within the lamina meshwork in mammalian somatic cells...
June 21, 2017: Nucleus
https://www.readbyqxmd.com/read/28635313/reliability-and-validity-of-the-chinese-version-of-the-breathlessness-beliefs-questionnaire
#16
Qing Wu, AiMin Guo, YanWei Zhao, SiJia Li, Hui Huang
The aim of this article is to evaluate the reliability and validity of the Chinese version of the Breathlessness Beliefs Questionnaire (BBQ) for use among patients with respiratory diseases in China. The BBQ is an instrument for assessing specific dyspnoea-related fears and may have predictive value for chronic obstructive pulmonary disease outcomes beyond general anxiety measures. This instrument has not previously been translated into Chinese or tested in mainland China. This was a cross-sectional validation study with a 1-week test of reproducibility...
January 1, 2017: Chronic Respiratory Disease
https://www.readbyqxmd.com/read/28635306/self-injurious-behaviors-in-children-with-autism-spectrum-disorder-enrolled-in-the-study-to-explore-early-development
#17
Gnakub Norbert Soke, Steven A Rosenberg, Cordelia Robinson Rosenberg, Roma A Vasa, Li-Ching Lee, Carolyn DiGuiseppi
We assessed potential factors associated with "current" or "ever" self-injurious behaviors, reported in the Autism Diagnostic Interview-Revised, among children with autism spectrum disorder (n = 692) from the Study to Explore Early Development. Data on factors examined were obtained from questionnaires, standardized clinical instruments, and birth certificates. We employed a log-binomial regression to assess these associations. Although most associations were quite similar for currently and ever exhibiting self-injurious behaviors, a few differences were noted...
June 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28634390/increased-glutamate-in-somatosensory-cortex-in-functional-dyspepsia
#18
Arthur D P Mak, Georg Northoff, David K W Yeung, Winnie C W Chu, Steve C N Hui, Cynthia Cheung, Jessica Ching, Linda Lam, Sing Lee, Justin Wu
Functional Dyspepsia-Post-prandial Distress Syndrome (FD-PDS) was associated with mood-related increases in resting activity and lowered activation threshold in the somatosensory cortex (SSC), insula and perigenual anterior cingulate cortex(pgACC) in functional imaging studies. The underlying cortical neurochemical changes are unknown. We performed proton Magnetic Resonance Spectroscopy (1H-MRS) on 17 consecutive tertiary clinic-recruited psychotropic-naïve Rome III FD-PDS female and 17 age-sex matched healthy controls...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28634273/the-c-elegans-vapb-homolog-vpr-1-is-a-permissive-signal-for-gonad-development
#19
Pauline A Cottee, Tim Cole, Jessica Schultz, Hieu D Hoang, Jack Vibbert, Sung Min Han, Michael A Miller
VAMP/synaptobrevin-associated proteins (VAPs) contain an N-terminal major sperm protein domain (MSPd) that is associated with amyotrophic lateral sclerosis. VAPs have an intracellular housekeeping function, as well as an extracellular signaling function mediated by the secreted MSPd. Here we show that the C. elegans VAP homolog VPR-1 is essential for gonad development. vpr-1 null mutants are maternal effect sterile due to arrested gonadogenesis following embryo hatching. Somatic gonadal precursor cells and germ cells fail to proliferate fully and complete their respective differentiation programs...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28633805/somatic-support-following-cardiac-arrest-for-90%C3%A2-days-leading-to-a-healthy-baby-boy-a-case-report
#20
Sarah Holliday, Barbara Magnuson-Woodward
Due to a lack of published case reports regarding the somatic support of brain dead pregnant patients, each one adds to the limited knowledge that directs care for this patient population. A young woman experienced a cardiac arrest and was subsequently determined to be approximately 20 weeks pregnant following cardio pulmonary resuscitation. Soon after, she was diagnosed as brain dead, but her family chose to keep her supported in hopes of the delivery of a healthy child. She was transferred to our facility, where she was supported after being diagnosed as brain dead for a total of 90 days and delivered a healthy baby boy at almost 32 weeks gestational age...
June 17, 2017: Heart & Lung: the Journal of Critical Care
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