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Pauline Funchain, Ahmad A Tarhini
Rapidly advancing genomic sequencing technologies are changing all areas of cancer, from diagnosis to surveillance, and prognostication to treatment. The role of genomic testing in melanoma is expanding, and multiple genomically based tests are available, including somatic tumor sequencing for actionable genetic alterations and tumor mutational burden, prognostic gene expression profiling from tumor tissue, and germline genetic testing from blood. The available testing options have varying levels of supporting data, from robust to preliminary...
March 15, 2018: Oncology (Williston Park, NY)
Daniel Cahill, Sevin Turcan
Malignant glioma is a common type of brain tumor that remains largely incurable. Although a definitive cell of origin of gliomas remains elusive, numerous population studies, sequencing efforts, and genetically engineered mouse models have contributed to our understanding of the early events that may lead to gliomagenesis. Herein we summarize our current knowledge on the population epidemiology of gliomas, heritable genetic risk factors, the somatic events that contribute to tumor evolution, and mouse models that have shed light on the glioma cell of origin...
February 2018: Seminars in Neurology
Balal Brazvan, Abbas Ebrahimi-Kalan, Kobra Velaei, Ahmad Mehdipour, Zeynab Aliyari Serej, Ayyub Ebrahimi, Mohammad Ghorbani, Omid Cheraghi, Hojjatollah Nozad Charoudeh
The end of linear chromosomes is formed of a special nucleoprotein heterochromatin structure with repetitive TTAGGG sequences called telomere. Telomere length is regulated by a special enzyme called telomerase, a specific DNA polymerase that adds new telomeric sequences to the chromosome ends. Telomerase consists of two parts; the central protein part and the accessory part which is a RNA component transported by the central part. Regulation of telomere length by this enzyme is a multi-stage process. Telomere length elongation is strongly influenced by the level of telomerase and has a strong correlation with the activity of telomerase enzyme...
March 13, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Yang Zou, Jiang-Yan Zhou, Jiu-Bai Guo, Li-Qun Wang, Yong Luo, Zi-Yu Zhang, Fa-Ying Liu, Jun Tan, Feng Wang, Ou-Ping Huang
Endometriosis is a potential premalignant disorder. The underlying molecular aberrations, however, are not fully understood. A recent exome sequencing study found that 25% (10/39) of deep infiltrating endometriosis harbored cancer driver gene mutations. However, it is unclear whether these mutations also exist in ovarian endometriosis. Here, a total of 101 ovarian endometriosis samples were analyzed for the presence of these gene mutations, including KRAS, PPP2R1A, PIK3CA and ARID1A. In addition, 6 other cancer-associated genes (BRAF, NRAS, HRAS, ERK1, ERK2 and PTEN) were also analyzed...
March 9, 2018: Mutation Research
Grace Guerrero-Ramírez, Eduardo Cumba-Avilés
OBJECTIVE: People with type 1 diabetes (T1D) may experience significant changes in their daily routines due to this condition, which frequently results in depressive symptoms and the deterioration of their quality of life. We examined the factors associated with suicidal ideation (SI) and diabetes-related quality of life (DRQOL) in adolescents (aged 12 to 17) with T1D. METHODS: The sample consisted of 51 youths (29 girls) recruited during a treatment study for depression...
2018: Puerto Rico Health Sciences Journal
Davina Gale, Andrew R J Lawson, Karen Howarth, Mikidache Madi, Bradley Durham, Sarah Smalley, John Calaway, Shannon Blais, Greg Jones, James Clark, Peter Dimitrov, Michelle Pugh, Samuel Woodhouse, Michael Epstein, Ana Fernandez-Gonzalez, Alexandra S Whale, Jim F Huggett, Carole A Foy, Gerwyn M Jones, Hadas Raveh-Amit, Karin Schmitt, Alison Devonshire, Emma Green, Tim Forshew, Vincent Plagnol, Nitzan Rosenfeld
INTRODUCTION: Detection and monitoring of circulating tumor DNA (ctDNA) is rapidly becoming a diagnostic, prognostic and predictive tool in cancer patient care. A growing number of gene targets have been identified as diagnostic or actionable, requiring the development of reliable technology that provides analysis of multiple genes in parallel. We have developed the InVision™ liquid biopsy platform which utilizes enhanced TAm-Seq™ (eTAm-Seq™) technology, an amplicon-based next generation sequencing method for the identification of clinically-relevant somatic alterations at low frequency in ctDNA across a panel of 35 cancer-related genes...
2018: PloS One
Sunil Pradhan, Surjyaprakash S Choudhury
Introduction: Several extracranial symptoms, including somatic pain syndormes, are known to occur in migraine. Though neck pain has been occasionally described with migraine, its precise association and nature is not yet clear. Objective: To study the incidence and characteristics of neck pain in migraine with particular emphasis on its occurrence as a trigger or a part of the symptom complex of migraine, as well as its association with different phases of the migraine attack...
March 2018: Neurology India
Julian D Ford, Ruby Charak, Crosby A Modrowski, Patricia K Kerig
Polyvictimization (PV) has been shown to be associated with psychosocial and behavioral impairment in community and high risk populations, including youth involved in juvenile justice. However, the mechanisms accounting for these adverse outcomes have not been empirically delineated. Symptoms of posttraumatic stress disorder (PTSD) and dissociation are documented sequelae of PV and are associated with a wide range of behavioral/emotional problems. This study used a cross-sectional research design and bootstrapped multiple mediation analyses with self-report measures completed by a large sample of justice-involved youth (N = 809, ages 12-19 years old, 27% female, 46...
May 2018: Journal of Trauma & Dissociation
Guido Kobbe, Thomas Schroeder, Rainer Haas, Ulrich Germing
Allogeneic blood stem cell transplantation (aBSCT) still is the only curative therapy for patients with myelodysplastic syndromes. While it carries the hope for cure for some patients, it may result in severe toxicity and death from complications or recurrent disease in others. Recent developments have improved patient and donor selection as well as technical aspects of the transplant procedure and post-transplant care, including early detection and treatment of relapse. Areas covered: This review will discuss current stratification tools to identify suitable patients, donors and transplant techniques...
March 16, 2018: Expert Review of Hematology
Nan-Hee Seo, Eun-Hye Lee, Jin-Hee Seo, Hwa-Ryung Song, Myung-Kwan Han
Embryonic stem cells (ESCs) are metabolically distinct from their differentiated counterparts. ESC mitochondria are less complex and fewer in number than their differentiated progeny. However, few studies have examined the proteins responsible for differences in mitochondrial structure and function between ESCs and somatic cells. Therefore, in this study, we aimed to investigate the differences between mitochondrial proteins in these two cell types. We demonstrate that HSP60 is more abundant in mouse ESC mitochondria than in mouse embryonic fibroblasts...
March 16, 2018: Experimental & Molecular Medicine
Eva C Thoma
Direct conversion of one somatic cell type into another represents a promising approach to obtain patient-specific cells for numerous applications. Here, we describe a method allowing the transdifferentiation of human postnatal fibroblasts into functional Schwann cells via a transient progenitor stage. The conversion process is solely based on chemical treatment and does not require the overexpression of ectopic genes. The resulting induced Schwann cells (iSCs) can be characterized by expression of Schwann cell-specific proteins and neuro-supportive and myelination capacity in vitro...
2018: Methods in Molecular Biology
Anao Zhang, QingYing Ji, Jennifer Currin-McCulloch, Phyllis Solomon, YuTing Chen, Yaxi Li, Barbara Jones, Cynthia Franklin, Jack Nowicki
PURPOSE: Given the critical role of parental care for pediatric cancer patients, this pilot study evaluated the feasibility and effectiveness of a hospital-based solution-focused brief therapy (SFBT) intervention for reducing psychological distress among parents of pediatric cancer patients in China. Differences between treatment and active control (AC) groups were assessed on dimensions of psychological distress. Parents' level of hope was also assessed. METHODS: Participants (N = 44) were randomly assigned to SFBT or AC...
March 15, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
Xiangfeng Wang, Hu Fang, Yong Cheng, Lin Li, Xiaohui Sun, Tao Fu, Peide Huang, Anping Zhang, Zhimin Feng, Chunxue Li, Xuanlin Huang, Guangyan Li, Peina Du, Huanming Yang, Xiaodong Fang, Fan Li, Qiang Gao, Baohua Liu
Synchronous colorectal cancers (syCRCs), which present two or more lesions at diagnosis, are rare and pose a great challenge for clinical management. Although some predisposing factors associated with syCRCs have been studied with limited accession, the full repertoire of genomic events among the lesions within an individual and the causes of syCRCs remain unclear. We performed whole-exome sequencing of 40 surgical tumour samples of paired lesions from 20 patients to characterize the genetic alterations. Lesions from same patient showed distinct landscapes of somatic aberrations and shared few mutations, which suggests that they originate and develop independently although they shared the similar genetic background...
March 13, 2018: Carcinogenesis
Lan Hai, Maria M Szwarc, Bin He, David M Lonard, Ramakrishna Kommagani, Francesco J DeMayo, John P Lydon
Speckle-type poz protein (SPOP) is an E3-ubiquitin ligase adaptor for turnover of a diverse number of proteins involved in key cellular processes from chromatin remodeling, transcriptional regulation to cell signaling. Genomic analysis revealed that SPOP somatic mutations are found in a subset of endometrial cancers, suggesting that these mutations act as oncogenic drivers of this gynecologic malignancy. These studies also raise the question as to the role of wild type SPOP in normal uterine function. To address this question, we generated a mouse model (Spopd/d) in which SPOP is ablated in uterine cells that express the PGR...
March 13, 2018: Biology of Reproduction
J Ryan Scott, Afton L Hassett, Andrew D Schrepf, Chad M Brummett, Richard E Harris, Daniel J Clauw, Steven E Harte
Objective: Moderate alcohol consumption has been associated with improved health outcomes including reduced risk of heart disease; however, less is known regarding alcohol's effects on chronic pain. The aim of this study was to assess associations between pain, fibromyalgia symptoms, and moderate alcohol use in a large chronic pain sample. Methods: A total of 2,583 new chronic pain patients presenting at a university pain clinic reported alcohol use and completed validated measures; 592 (23%) patients reported drinking, with 502 (85%) classified as moderate drinkers (females ≤7 and males ≤14 drinks/wk)...
March 13, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
Jessica L H Walters, Geoffry N De Iuliis, Matthew D Dun, Robert John Aitken, Eileen A McLaughlin, Brett Nixon, Elizabeth G Bromfield
One of the leading causes of male infertility is defective sperm function, a pathology that commonly arises from oxidative stress in the germline. Lipid peroxidation events in the sperm plasma membrane result in the generation of cytotoxic aldehydes such as 4-hydroxynonenal (4HNE), which accentuate the production of reactive oxygen species (ROS) and cause cellular damage. One of the key enzymes involved in the metabolism of polyunsaturated fatty acids to 4HNE in somatic cells is arachidonate 15-lipoxygenase (ALOX15)...
March 13, 2018: Biology of Reproduction
Chen Chi, Leigh C Murphy, Pingzhao Hu
Breast cancer diagnosis in young women has emerged as an independent prognostic factor with higher recurrence risk and death than their older counterparts. We aim to find recurrent somatic copy number alteration (CNA) regions identified from breast cancer microarray data and associate the CNA status of the genes harbored in the regions to the survival of young women with breast cancer. By using the interval graph-based algorithm we developed, and the CNA data consisting of a Discovery set with 130 young women and a Validation set with 125 young women, we identified 38 validated recurrent CNAs containing 39 protein encoding genes...
February 20, 2018: Oncotarget
Sara Bobisse, Raphael Genolet, Annalisa Roberti, Janos L Tanyi, Julien Racle, Brian J Stevenson, Christian Iseli, Alexandra Michel, Marie-Aude Le Bitoux, Philippe Guillaume, Julien Schmidt, Valentina Bianchi, Denarda Dangaj, Craig Fenwick, Laurent Derré, Ioannis Xenarios, Olivier Michielin, Pedro Romero, Dimitri S Monos, Vincent Zoete, David Gfeller, Lana E Kandalaft, George Coukos, Alexandre Harari
Immunotherapy directed against private tumor neo-antigens derived from non-synonymous somatic mutations is a promising strategy of personalized cancer immunotherapy. However, feasibility in low mutational load tumor types remains unknown. Comprehensive and deep analysis of circulating and tumor-infiltrating lymphocytes (TILs) for neo-epitope specific CD8+ T cells has allowed prompt identification of oligoclonal and polyfunctional such cells from most immunotherapy-naive patients with advanced epithelial ovarian cancer studied...
March 15, 2018: Nature Communications
Jasper Braun, Lukas Nabergall, Rafik Neme, Laura F Landweber, Masahico Saito, Nataša Jonoska
Ciliates have two different types of nuclei per cell, with one acting as a somatic, transcriptionally active nucleus (macronucleus; abbr. MAC) and another serving as a germline nucleus (micronucleus; abbr. MIC). Furthermore, Oxytricha trifallax undergoes extensive genome rearrangements during sexual conjugation and post-zygotic development of daughter cells. These rearrangements are necessary because the precursor MIC loci are often both fragmented and scrambled, with respect to the corresponding MAC loci. Such genome architectures are remarkably tolerant of encrypted MIC loci, because RNA-guided processes during MAC development reorganize the gene fragments in the correct order to resemble the parental MAC sequence...
March 15, 2018: G3: Genes—Genomes—Genetics
Alina Fedoseienko, Melinde Wijers, Justina C Wolters, Daphne Dekker, Marieke Smit, Nicolette Huijkman, Niels Kloosterhuis, Helene Klug, Aloys Schepers, Ko Willems van Dijk, Johannes H Levels, Daniel D Billadeau, Marten H Hofker, Jan van Deursen, Marit Westerterp, Ezra Burstein, Jan Albert Kuivenhoven, Bart van de Sluis
<u>Rationale:</u> <u>CO</u> pper<u>M</u>etabolism<u>M</u>URR1 Domain-containing (COMMD) proteins are a part of the COMMD-CCDC22-CCDC93 (CCC) complexes facilitating endosomal trafficking of cell surface receptors. Hepatic COMMD1 inactivation decreases CCDC22 and CCDC93 protein levels, impairs the recycling of the low-density lipoprotein receptor (LDLR), and increases plasma LDL cholesterol levels in mice. However, whether any of the other COMMD members function similarly as COMMD1, and whether perturbation in the CCC complex promotes atherogenesis remain unclear...
March 15, 2018: Circulation Research
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