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https://www.readbyqxmd.com/read/28454217/paraganglioma-of-the-organ-of-zuckerkandl-associated-with-a-somatic-hif2%C3%AE-mutation-a-case-report
#1
Ahmad Esmaeel Abdullah, Carole Guerin, Alessio Imperiale, Anne Barlier, Stéphanie Battini, Morgane Pertuit, Philippe Roche, Wassim Essamet, Bernard Vaisse, Karel Pacak, Fréderic Sebag, David Taïeb
Paragangliomas of the organ of Zuckerkandl (OZ-PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (SDHB) or SDHD gene mutations. The aim of the current study was to determine whether a somatic genetic defect in the hypoxia-inducible factor 2α (HIF2α) gene was present in a case of sporadic OZ-PGL. A 32-year-old African female presented with uncontrolled hypertension during the first trimester of pregnancy. A diagnostic hysteroscopy was performed 3 months after delivery, precipitating a hypertensive crisis...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454104/rna-sequencing-based-cell-proliferation-analysis-across-19-cancers-identifies-a-subset-of-proliferation-informative-cancers-with-a-common-survival-signature
#2
Ryne C Ramaker, Brittany N Lasseigne, Andrew A Hardigan, Laura Palacio, David S Gunther, Richard M Myers, Sara J Cooper
Despite advances in cancer diagnosis and treatment strategies, robust prognostic signatures remain elusive in most cancers. Cell proliferation has long been recognized as a prognostic marker in cancer, but the generation of comprehensive, publicly available datasets allows examination of the links between cell proliferation and cancer characteristics such as mutation rate, stage, and patient outcomes. Here we explore the role of cell proliferation across 19 cancers (n = 6,581 patients) by using tissue-based RNA sequencing data from The Cancer Genome Atlas Project and calculating a 'proliferative index' derived from gene expression associated with Proliferating Cell Nuclear Antigen (PCNA) levels...
April 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28453743/targeted-next-generation-sequencing-of-pediatric-neuro-oncology-patients-improves-diagnosis-identifies-pathogenic-germline-mutations-and-directs-targeted-therapy
#3
Cassie N Kline, Nancy M Joseph, James P Grenert, Jessica van Ziffle, Eric Talevich, Courtney Onodera, Mariam Aboian, Soonmee Cha, David R Raleigh, Steve Braunstein, Joseph Torkildson, David Samuel, Michelle Bloomer, Alejandra G de Alba Campomanes, Anuradha Banerjee, Nicholas Butowski, Corey Raffel, Tarik Tihan, Andrew W Bollen, Joanna J Phillips, W Michael Korn, Iwei Yeh, Boris C Bastian, Nalin Gupta, Sabine Mueller, Arie Perry, Theodore Nicolaides, David A Solomon
Background.: Molecular profiling is revolutionizing cancer diagnostics and leading to personalized therapeutic approaches. Herein we describe our clinical experience performing targeted sequencing for 31 pediatric neuro-oncology patients. Methods.: We sequenced 510 cancer-associated genes from tumor and peripheral blood to identify germline and somatic mutations, structural variants, and copy number changes. Results.: Genomic profiling was performed on 31 patients with tumors including 11 high-grade gliomas, 8 medulloblastomas, 6 low-grade gliomas, 1 embryonal tumor with multilayered rosettes, 1 pineoblastoma, 1 uveal ganglioneuroma, 1 choroid plexus carcinoma, 1 chordoma, and 1 high-grade neuroepithelial tumor...
May 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28453706/somatic-brca2-bi-allelic-loss-in-the-primary-prostate-cancer-was-associated-to-objective-response-to-parpi-in-a-sporadic-crpc-patient
#4
N Romero-Laorden, E Piñeiro-Yañez, A Gutierrez-Pecharroman, M I Pacheco, E Calvo, F Al-Shahrour, E Castro, D Olmos
No abstract text is available yet for this article.
May 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28453285/pharmacological-reprogramming-of-somatic-cells-for-regenerative-medicine
#5
Min Xie, Shibing Tang, Ke Li, Sheng Ding
Lost or damaged cells in tissues and organs can be replaced by transplanting therapeutically competent cells. This approach requires methods that effectively manipulate cellular identities and properties to generate sufficient numbers of desired cell types for transplantation. These cells can be generated by reprogramming readily available somatic cells, such as fibroblasts, into induced pluripotent stem cells (iPSCs), which can replicate indefinitely and give rise to any somatic cell type. This reprogramming can be achieved with genetic methods, such as forced expression of pluripotency-inducing transcription factors (TFs), which can be further improved, or even avoided, with pharmacological agents...
April 28, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/28449564/dehydroepiandrosterone-sulfate-level-varies-nonlinearly-with-symptom-severity-in-major-depressive-disorder
#6
Dasom Uh, Hyun-Ghang Jeong, Kwang-Yeon Choi, So-Young Oh, Suji Lee, Seung-Hyun Kim, Sook-Haeng Joe
Objective: The pathophysiology of major depressive disorder (MDD) is still not well understood. Conflicting results for surrogate. biomarkers in MDD have been reported, which might be a consequence of the heterogeneity of MDD patients. Therefore, we aim to investigate how the severity of depression and various symptom domains are related to the levels of dehydroepiandrosterone sulfate (DHEA-s) in MDD patients. Methods: We recruited 117 subjects from a general practice...
May 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28449492/somatic-cough-syndrome-or-psychogenic-cough-what-is-the-difference
#7
EDITORIAL
Anne E Vertigan
The term psychogenic cough has been used to describe cough without obvious medical etiology, which is refractory to medical management and considered to have a psychiatric or psychological basis. However there are limitations in the research into psychogenic cough with limited empirical data on how to define the condition or differentially diagnose it from other forms of chronic cough. The term somatic cough syndrome was introduced by the American College of Chest physicians in 2015 during their revision of the 2006 guideline on psychogenic cough...
March 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28449304/a-case-of-familial-transmission-of-the-newly-described-dnmt3a-overgrowth-syndrome
#8
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, Marie-Ange Delrue
DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. This autosomal dominant condition is characterized by overgrowth, dysmorphic facial features and moderate intellectual disability. Missense and truncating point mutations, a small in-frame deletion, as well as microdeletion 2p23 have been reported. Moreover, DNMT3A is commonly somatically mutated in acute myeloid leukemia. We herein report a family with two siblings and their father affected by the syndrome...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449251/vascular-twin-nevi
#9
Senay Agirgol, Hatice Nur Ozturk, Tugba Ozkok Akbulut, Ceyda Gunduzoglu, Leyli Kadriye Koc, Zafer Turkoglu
Vascular twin nevi (VTN) are characterized by the simultaneous dermatological manifestatiton of a telangiectatic naevus close to a nevus anemicus. Nevus anemicus (NA) is a vascular anomaly characterized by localized pale patches with normal melanine and melanocyte level. According to twin spotting phenomenon crossing-over in heterozygous somatic-cells during mitosis results in two different offspring homozygous cells. Consequent to this mechanism, two different vascular anomalies may occur at the same region...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449183/noninferiority-trial-investigating-the-efficacy-of-a-nonantibiotic-intramammary-therapy-in-the-treatment-of-mild-to-moderate-clinical-mastitis-in-dairy-cows-with-longer-lasting-udder-diseases
#10
M Ziesch, N Wente, Y Zhang, W Zaremba, S Engl, V Krömker
A nonblinded, positively controlled, noninferiority trial was conducted to evaluate the efficacy of an alternative, nonantibiotic therapy with Masti Veyxym(®) to reduce ineffective antibiotic usage in the treatment of nonsevere clinical mastitis (CM) in cows with longer lasting udder diseases. The solely intramammary treatment with Masti Veyxym(®) (three applications, 12 hr apart) and the combined treatment with Masti Veyxym(®) and antibiotics as usual on the farm according to label of the respective product were compared with the reference treatment of solely antibiotic therapy...
April 27, 2017: Journal of Veterinary Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28448556/a-highly-specific-and-sensitive-massive-parallel-sequencer-based-test-for-somatic-mutations-in-non-small-cell-lung-cancer
#11
Yoshiaki Inoue, Jun Shiihara, Hitoshi Miyazawa, Hiromitsu Ohta, Megumi Higo, Yoshiaki Nagai, Kunihiko Kobayashi, Yasuo Saijo, Masanori Tsuchida, Mitsuo Nakayama, Koichi Hagiwara
Molecular targeting therapy for non-small cell lung cancer (NSCLC) has clarified the importance of mutation testing when selecting treatment regimens. As a result, multiple-gene mutation tests are urgently needed. We developed a next-generation sequencer (NGS)-based, multi-gene test named the MINtS for investigating driver mutations in both cytological specimens and snap-frozen tissue samples. The MINtS was used to investigate the EGFR, KRAS, BRAF genes from DNA, and the ERBB2, and the ALK, ROS1, and RET fusion genes from RNA...
2017: PloS One
https://www.readbyqxmd.com/read/28448516/natural-variation-of-pirna-expression-affects-immunity-to-transposable-elements
#12
Sergei Ryazansky, Elizaveta Radion, Anastasia Mironova, Natalia Akulenko, Yuri Abramov, Valeriya Morgunova, Maria Y Kordyukova, Ivan Olovnikov, Alla Kalmykova
In the Drosophila germline, transposable elements (TEs) are silenced by PIWI-interacting RNA (piRNA) that originate from distinct genomic regions termed piRNA clusters and are processed by PIWI-subfamily Argonaute proteins. Here, we explore the variation in the ability to restrain an alien TE in different Drosophila strains. The I-element is a retrotransposon involved in the phenomenon of I-R hybrid dysgenesis in Drosophila melanogaster. Genomes of R strains do not contain active I-elements, but harbour remnants of ancestral I-related elements...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28447972/wild-type-blocking-pcr-combined-with-direct-sequencing-as-a-highly-sensitive-method-for-detection-of-low-frequency-somatic-mutations
#13
Adam Z Albitar, Wanlong Ma, Maher Albitar
Accurate detection and identification of low frequency mutations can be problematic when assessing residual disease after therapy, screening for emerging resistance mutations during therapy, or when patients have few circulating tumor cells. Wild-type blocking PCR followed by sequencing analysis offers high sensitivity, flexibility, and simplicity as a methodology for detecting these low frequency mutations. By adding a custom designed locked nucleic acid oligonucleotide to a new or previously established conventional PCR based sequencing assay, sensitivities of approximately 1 mutant allele in a background of 1,000 WT alleles can be achieved (1:1,000)...
March 29, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28447726/a-three-caller-pipeline-for-variant-analysis-of-cancer-whole-exome-sequencing-data
#14
Ze-Kun Liu, Yu-Kui Shang, Zhi-Nan Chen, Huijie Bian
Rapid advancements in next generation sequencing (NGS) technologies, coupled with the dramatic decrease in cost, have made NGS one of the leading approaches applied in cancer research. In addition, it is increasingly used in clinical practice for cancer diagnosis and treatment. Somatic (cancer‑only) single nucleotide variants and small insertions and deletions (indels) are the simplest classes of mutation, however, their identification in whole exome sequencing data is complicated by germline polymorphisms, tumor heterogeneity and errors in sequencing and analysis...
March 16, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28447324/craniofacial-morphology-and-dental-maturity-in-children-with-reduced-somatic-growth-of-different-aetiology-and-the-effect-of-growth-hormone-treatment
#15
REVIEW
Sotiria Davidopoulou, Athina Chatzigianni
Children with reduced somatic growth may present various endocrinal diseases, especially growth hormone deficiency (GHD), idiopathic short stature (ISS), chromosomal aberrations, or genetic disorders. In an attempt to normalize the short stature, growth hormone (GH) is administered to these children. The aim of this literature review was to collect information about the craniofacial morphology and dental maturity in these children and to present the existing knowledge on the effect of GH treatment on the above structures...
December 2017: Progress in Orthodontics
https://www.readbyqxmd.com/read/28447248/somatic-setbp1-mutations-in-myeloid-neoplasms
#16
REVIEW
Hideki Makishima
SETBP1 is a SET-binding protein regulating self-renewal potential through HOXA-protein activation. Somatic SETBP1 mutations were identified by whole exome sequencing in several phenotypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), including atypical chronic myeloid leukemia, chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia as well as in secondary acute myeloid leukemia (sAML). Surprisingly, its recurrent somatic activated mutations are located at the identical positions of germline mutations reported in congenital Schinzel-Giedion syndrome...
April 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28447135/-environmental-medical-syndromes
#17
REVIEW
Gerhard A Wiesmüller, Claudia Hornberg
Environmental medical syndromes comprise sick building syndrome (SBS), multiple chemical sensitivity (MCS)/idiopathic environmental intolerances (IEI), electromagnetic hypersensitivity, chronic fatigue syndrome (CFS), burnout, fibromyalgia, and the candida syndrome. There is also some overlap described in the literature. There is still no established knowledge of etiology, pathology, pathophysiology, diagnostics, therapy, prevention and prognosis. These syndromes are thought to result from a complex interaction of physical, chemical and/or (micro)biological environmental stresses, individual dispositions, psychological influencing factors, perceptual and processing processes, variants of somatization disorders, culturally or socially caused distress, or simply iatrogenic causation...
April 26, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28446816/sirt2-and-glycolytic-enzyme-acetylation-in-pluripotent-stem-cells
#18
Tong Ming Liu, Ng Shyh-Chang
The metabolic transition from mitochondrial oxidative phosphorylation (OXPHOS) to glycolysis is critical for somatic reprogramming of induced pluripotent stem cells (iPSCs). SIRT2 has now been established as a previously unknown regulator of this metabolic transition during somatic reprogramming by controlling the acetylation status of glycolytic enzymes.
April 27, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28446707/deterministic-versus-stochastic-model-of-reprogramming-new-evidence-from-cellular-barcoding-technique
#19
Anastasia M Yunusova, Veniamin S Fishman, Gennady V Vasiliev, Nariman R Battulin
Factor-mediated reprogramming of somatic cells towards pluripotency is a low-efficiency process during which only small subsets of cells are successfully reprogrammed. Previous analyses of the determinants of the reprogramming potential are based on average measurements across a large population of cells or on monitoring a relatively small number of single cells with live imaging. Here, we applied lentiviral genetic barcoding, a powerful tool enabling the identification of familiar relationships in thousands of cells...
April 2017: Open Biology
https://www.readbyqxmd.com/read/28446568/lis1-regulates-germinal-center-b-cell-antigen-acquisition-and-affinity-maturation
#20
Jingjing Chen, Zhenming Cai, Le Zhang, Yuye Yin, Xufeng Chen, Chao Chen, Yang Zhang, Sulan Zhai, Xuehui Long, Xiaolong Liu, Xiaoming Wang
The germinal center (GC) is the site where activated B cells undergo rapid expansions, somatic hypermutation, and affinity maturation. Affinity maturation is a process of Ag-driven selection. The amount of Ag acquired and displayed by GC B cells determines whether it can be positively selected, and therefore Ag acquisition has to be tightly regulated to ensure the efficient affinity maturation. Cell expansion provides sufficient quantity of GC B cells and Abs, whereas affinity maturation improves the quality of Abs...
April 26, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
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