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J Feng, X Y Gong, Y J Jia, K Q Liu, Y Li, X B Dong, Q Y Fang, K Ru, Q H Li, H J Wang, X L Zhao, Y N Jia, Y Song, Z Tian, M Wang, K J Tang, J X Wang, Y C Mi
Objective: To investigate the spectrum of gene mutations in adult patients with B-acute lymphoblastic leukemia (B-ALL), and to analyze the influences of different gene mutations on prognosis. Methods: DNA samples from 113 adult B-ALL patients who administered from June 2009 to September 2015 were collected. Target-specific next generation sequencing (NGS) approach was used to analyze the mutations of 112 genes (focused on the specific mutational hotspots) and all putative mutations were compared against multiple databases to calculate the frequency spectrum...
February 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
Patrick McGillivray, Russell Ault, Mayur Pawashe, Robert Kitchen, Suganthi Balasubramanian, Mark Gerstein
Upstream open reading frames (uORFs) latent in mRNA transcripts are thought to modify translation of coding sequences by altering ribosome activity. Not all uORFs are thought to be active in such a process. To estimate the impact of uORFs on the regulation of translation in humans, we first circumscribed the universe of all possible uORFs based on coding gene sequence motifs and identified 1.3 million unique uORFs. To determine which of these are likely to be biologically relevant, we built a simple Bayesian classifier using 89 attributes of uORFs labeled as active in ribosome profiling experiments...
March 19, 2018: Nucleic Acids Research
Wei Zhang, Guihai Feng, Libin Wang, Fei Teng, Liu Wang, Wei Li, Ying Zhang, Qi Zhou
The generation of induced pluripotent stem cells (iPSCs) offers a great opportunity in research and regenerative medicine. The current poor efficiency and incomplete mechanistic understanding of the reprogramming process hampers the clinical application of iPSCs. MeCP2 connects histone modification and DNA methylation, which are key changes of somatic cell reprogramming. However, the role of MeCP2 in cell reprogramming has not been examined. In this study, we found that MeCP2 deficiency enhanced reprogramming efficiency and stimulated cell proliferation through regulating cell cycle protein expression in the early stage of reprogramming...
March 19, 2018: Journal of Molecular Cell Biology
Jennifer F Knight, Vanessa Y C Sung, Elena Kuzmin, Amber L Couzens, Danielle A de Verteuil, Colin D H Ratcliffe, Paula P Coelho, Radia M Johnson, Payman Samavarchi-Tehrani, Tina Gruosso, Harvey W Smith, Wontae Lee, Sadiq M Saleh, Dongmei Zuo, Hong Zhao, Marie-Christine Guiot, Ryan R Davis, Jeffrey P Gregg, Christopher Moraes, Anne-Claude Gingras, Morag Park
Triple-negative breast cancers (TNBCs) display a complex spectrum of mutations and chromosomal aberrations. Chromosome 5q (5q) loss is detected in up to 70% of TNBCs, but little is known regarding the genetic drivers associated with this event. Here, we show somatic deletion of a region syntenic with human 5q33.2-35.3 in a mouse model of TNBC. Mechanistically, we identify KIBRA as a major factor contributing to the effects of 5q loss on tumor growth and metastatic progression. Re-expression of KIBRA impairs metastasis in vivo and inhibits tumorsphere formation by TNBC cells in vitro...
March 20, 2018: Cell Reports
Nedeljka Ivković, Maja Racic, Radoslavka Lecic, Djordje Bozovic, Milan Kulic
AIMS: To evaluate whether serum estrogen level is associated with chronic pain, masticatory dysfunction, and depressive symptoms and/or somatization in women with temporomandibular disorders (TMD) and different menstrual cycle status. METHODS: A total of 64 women were allocated into one of three groups: one composed of women with normal menstrual cycles (Group 1), one composed of pregnant women (Group 2), and one composed of women in surgical menopause (Group 3)...
March 21, 2018: Journal of Oral & Facial Pain and Headache
Gábor Zsurka, Viktoriya Peeva, Alexander Kotlyar, Wolfram S Kunz
Recent deep sequencing data has provided compelling evidence that the spectrum of somatic point mutations in mitochondrial DNA (mtDNA) in aging tissues lacks G > T transversion mutations. This fact cannot, however, be used as an argument for the missing contribution of reactive oxygen species (ROS) to mitochondria-related aging because it is probably caused by the nucleotide selectivity of mitochondrial DNA polymerase γ (POLG). In contrast to point mutations, the age-dependent accumulation of mitochondrial DNA deletions is, in light of recent experimental data, still explainable by the segregation of mutant molecules generated by the direct mutagenic effects of ROS (in particular, of HO· radicals formed from H₂O₂ by a Fenton reaction)...
March 21, 2018: Genes
Yan Tan, Yunming Li, Juan Wu, Fuqin Chen, Hao Lu, Shijun Lu, Xianjun Yang, Xiao Ma
This study investigated the mental health of military transport personnel in the Western Sichuan Plateau of China, and factors that correlate with their mental health.The Symptom Checklist 90 (SCL-90) was used to investigate the mental health status of the subjects. Their scores were compared with the national and military norm in China. Demographic factors were analyzed for associations with SCL-90 scores.Psychological problems were detected in 28.90% of total 1076 male officers and soldiers surveyed. The SCL-90 scale somatization score of these servicemen was higher than the national and military norms in China, while other scores were comparable...
March 2018: Medicine (Baltimore)
Yuan Yue, Lone Hymøller, Søren Krogh Jensen, Charlotte Lauridsen
The objective of this study was to investigate the possible beneficial effect of vitamin D repletion on certain immune parameters of vitamin D insufficient dairy cows. Twenty dairy cows in late lactation were treated daily with vitamin D in five different ways: sunlight exposure (SUN), D2 supplementation combined with sunlight exposure (D2SUN), D2 supplementation (D2), D3 supplementation (D3), and D2 and D3 supplementation combined (D2D3). The cows had very low vitamin D levels at d 0 because of the vitamin D deprivation before the study...
March 21, 2018: Archives of Animal Nutrition
Salpie Nowinski, Aida Santaolalla, Ben O'Leary, Massimo Loda, Ayesha Mirchandani, Mark Emberton, Mieke Van Hemelrijck, Anita Grigoriadis
Novel approaches for classification, including molecular features, are needed to direct therapy for men with low-grade prostate cancer (PCa), especially men on active surveillance. Risk alleles identified from genome-wide association studies (GWAS) could improve prognostication. Those risk alleles that coincided with genes and somatic copy number aberrations associated with progression of PCa were selected as the most relevant for prognostication. In a systematic literature review, a total of 698 studies were collated...
February 27, 2018: Oncotarget
David M Barris, Shoshana B Weiner, Robert A Dubin, Michael Fremed, Xusheng Zhang, Sajida Piperdi, Wendong Zhang, Shahina Maqbool, Jonathan Gill, Michael Roth, Bang Hoang, David Geller, Richard Gorlick, Daniel A Weiser
Identification and quantification of somatic alterations in plasma-derived, circulating tumor DNA (ctDNA) is gaining traction as a non-invasive and cost effective method of disease monitoring in cancer patients, particularly to evaluate response to treatment and monitor for disease recurrence. To our knowledge, genetic analysis of ctDNA in osteosarcoma has not yet been studied. To determine whether somatic alterations can be detected in ctDNA and perhaps applied to patient management in this disease, we collected germline, tumor, and serial plasma samples from pediatric, adolescent, and young adult patients with osteosarcoma and used targeted Next Generation Sequencing (NGS) to identify somatic single nucleotide variants (SNV), insertions and deletions (INDELS), and structural variants (SV) in 7 genes commonly mutated in osteosarcoma...
February 27, 2018: Oncotarget
Maaike Van Den Houte, Lukas Van Oudenhove, Ilse Van Diest, Katleen Bogaerts, Philippe Persoons, Jozef De Bie, Omer Van den Bergh
Background: Several studies have shown that patients with functional somatic syndromes (FSS) have, on average, deficient endogenous pain modulation (EPM), as well as elevated levels of negative affectivity (NA) and high comorbidity with depression and reduced resting heart rate variability (HRV) compared to healthy controls (HC). The goals of this study were (1) to replicate these findings and (2) to investigate the moderating role of NA, depression, and resting HRV in EPM efficiency within a patient group with fibromyalgia and/or chronic fatigue syndrome (CFS)...
2018: Frontiers in Psychology
Daniele Di Lernia, Silvia Serino, Giovanni Pezzulo, Elisa Pedroli, Pietro Cipresso, Giuseppe Riva
The nature of time is rooted in our body. Constellations of impulses arising from the flesh constantly create our interoceptive perception and, in turn, the unfolding of these perceptions defines human awareness of time. This study explored the connection between time perception and interoception and proposes the Interoceptive Buffer saturation (IBs) index. IBs evaluates subjects' ability to process salient stimuli from the body by measuring subjective distortions of interoceptive time perception, i.e., the estimated duration of tactile interoceptive stimulations...
2018: Frontiers in Human Neuroscience
Xue-Lian Liu, Rui-Ying Wu, Xiao-Feng Sun, Shun-Feng Cheng, Rui-Qian Zhang, Tian-Yu Zhang, Xi-Feng Zhang, Yong Zhao, Wei Shen, Lan Li
Zearalenone (ZEA), a metabolite of Fusarium fungi, is commonly found on moldy grains. Because it can competitively combine to estrogen receptor to disrupt estrogenic signaling, it has been reported to have serious adverse effects on animal reproduction systems. In order to explore the genotoxic effects of ZEA exposure on ovarian somatic cells, porcine granulosa cells were exposed to 10 μM and 30 μM ZEA for 24 or 72 h in vitro . The results showed that ZEA exposure for 24 h remarkably reduced the proliferation of porcine granulosa cells in a dose-dependent manner as determined by MTT analysis and flow cytometry...
2018: International Journal of Biological Sciences
Balázs Győrffy, Lőrinc Pongor, Giulia Bottai, Xiaotong Li, Jan Budczies, András Szabó, Christos Hatzis, Lajos Pusztai, Libero Santarpia
BACKGROUND: Sequence variations in coding and non-coding regions of the genome can affect gene expression and signalling pathways, which in turn may influence disease outcome. METHODS: In this study, we integrated somatic mutations, gene expression and clinical data from 930 breast cancer patients included in the TCGA database. Genes associated with single mutations in molecular breast cancer subtypes were identified by the Mann-Whitney U-test and their prognostic value was evaluated by Kaplan-Meier and Cox regression analyses...
March 21, 2018: British Journal of Cancer
Ralph Witzgall
Primary cilia represent small, yet distinct compartments of the plasma membrane. They are speculated to exercise chemo- and mechanosensory functions and to serve as signaling hubs for crucial pathways such as the Wnt and hedgehog cascades. It is therefore necessary that specific integral membrane proteins, in particular sensors and receptors, are sorted to the cilium and not to the surrounding somatic plasma membrane upon being synthesized at the rough endoplasmic reticulum. Apparently no singular "zip code" for the primary cilium exists but rather several ciliary targeting signals whose biochemical and cell biological implications are just about being unravelled...
March 17, 2018: Seminars in Cell & Developmental Biology
Anita Jensen, Lars Ole Bonde
The increasing international research into the use of arts and cultural activities in clinical contexts documents a number of beneficial effects in relation to many illness and diagnoses. A systematic review has identified a large number of studies documenting that art, culture and creative activities can have a positive effect on both mental and physical health. In this article, selected results are presented with the purpose of drawing attention to the possibilities for non-pharmacological methods, which are increasingly available, also in Denmark...
March 19, 2018: Ugeskrift for Laeger
Brian C Kok, Vanessa K Ma, Christine E Gould
BACKGROUND: Social anxiety disorder (SAD) (formerly called social phobia) is among the most common mental health diagnoses among older adults; however, the research on late-life social anxiety is scarce. A limited number of studies have examined the assessment and diagnosis of social anxiety disorder in this population, and there are few social anxiety measures that are validated for use with older adults. One such measure, the Older Adult Social Evaluative Scale (OASES), was designed for use with this population, but until now has lacked validation against a gold-standard diagnostic interview...
March 21, 2018: International Psychogeriatrics
Josefine Larsson, Katarzyna Smolarz, Justyna Świeżak, Magda Turower, Natalia Czerniawska, Mats Grahn
Anthropogenic pollution including metals, petroleum, toxins, nutrients and many others is a growing problem in the marine environment. These are important factors altering the environment and by that the fate of many local populations of marine organisms. The aim of this study was to assess the impact of selected point pollution sources on resident populations of the blue mussel (Mytilus edulis trossulus) in the Baltic Sea using multiple biomarker approach. The study used a nested sampling scheme in which sites from reference (REF) habitats are geographically paired with selected sites from sewage treatment plants (STP) and harbors (HAR)...
March 1, 2018: Aquatic Toxicology
Xinyuan Li, Lijun Zhu, Chunkui Zhou, Jing Liu, Heqian Du, Chenglin Wang, Shaokuan Fang
OBJECTIVE: To investigate the efficacy and tolerability of duloxetine during short-term treatment in adults with generalized anxiety disorder (GAD). METHODS: We conducted a comprehensive literature review of the PubMed, Embase, Cochrane Central Register of Controlled Trials, Web of Science, and ClinicalTrials databases for randomized controlled trials(RCTs) comparing duloxetine or duloxetine plus other antipsychotics with placebo for the treatment of GAD in adults...
2018: PloS One
E K Hopper, L D Gonzalez
Human trafficking is a form of interpersonal trauma that has significant mental health impacts on survivors. This study examined psychological symptoms in 131 survivors of sex and labor trafficking, including people trafficked into or within the U.S. High rates of depression (71%) and PTSD (61%) were identified. Two thirds of survivors also met criteria for multiple categories of Complex PTSD (C-PTSD), including affect dysregulation and impulsivity; alterations in attention and consciousness; changes in interpersonal relationships; revictimization; somatic dysregulation; and alterations in self-perception...
March 20, 2018: Behavioral Medicine
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