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https://www.readbyqxmd.com/read/28925723/expression-patterns-of-members-of-the-isocitrate-dehydrogenase-gene-family-in-murine-inner-ear
#1
Y-R Kim, K-H Kim, S Lee, S-K Oh, J-W Park, K-Y Lee, J-I Baek, U-K Kim
Age-related hearing loss (ARHL) is characterized by an age-dependent decline of auditory function characterized by with loss of sensory hair cells, spiral ganglion neurons, and stria vascularis (SV) cells in the cochlea of the inner ear. Aging and age-related diseases result from accumulated oxidative damage caused by reactive oxygen species (ROS) generated by mitochondria. The isocitrate dehydrogenase (IDH) family includes three enzymes in human cells: IDH1, IDH2, and IDH3. Although all three enzymes catalyze the same enzymatic reaction, that is, oxidative decarboxylation of isocitrate to produce α-ketoglutarate, each IDH enzyme has unique features...
September 19, 2017: Biotechnic & Histochemistry: Official Publication of the Biological Stain Commission
https://www.readbyqxmd.com/read/28922847/germline-msh6-mutation-in-a-patient-with-two-independent-primary-glioblastomas
#2
Linda M Forsström, Koichiro Sumi, Markus J Mäkinen, Ji Eun Oh, Riitta Herva, Paul Kleihues, Hiroko Ohgaki, Lauri A Aaltonen
We previously reported a patient who had developed 2 glioblastomas at the age of 54 and 64 years, respectively. The first glioblastoma in the right frontal lobe was treated with surgery and radiotherapy. Ten years later, the patient developed a second, left frontal glioblastoma. Discordant patterns of TP53 and PTEN mutations suggested that the second tumor was not a recurrence but an independently developed glioblastoma. To determine the molecular mechanism underlying this enigmatic case with 10-year survival, we performed whole-exome sequencing...
October 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28919992/molecular-and-clinical-characterization-of-tim-3-in-glioma-through-1-024-samples
#3
Guanzhang Li, Zheng Wang, Chuanbao Zhang, Xing Liu, Jinquan Cai, Zhiliang Wang, Huimin Hu, Fan Wu, Zhaoshi Bao, Yanwei Liu, Liang Zhao, Tingyu Liang, Fan Yang, Ruoyu Huang, Wei Zhang, Tao Jiang
Background: Researches on immunotherapy of glioma has been increasing exponentially in recent years. However, autoimmune-like side effects of current immune checkpoint blockade hindered the clinical application of immunotherapy in glioma. The discovery of the TIM-3, a tumor-specific immune checkpoint, has shed a new light on solution of this dilemma. We aimed at investigating the role of TIM-3 at transcriptome level and its relationship with clinical practice in glioma. Methods: A cohort of 325 glioma patients with RNA-seq data from Chinese Glioma Genome Atlas (CGGA project) was analyzed, and the results were well validated in TCGA RNA-seq data of 699 gliomas...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28915660/mass-spectrometry-based-assay-for-the-molecular-diagnosis-of-glioma-concomitant-detection-of-chromosome-1p-19q-codeletion-and-idh1-idh2-and-tert-mutation-status
#4
Chiara Pesenti, Leda Paganini, Laura Fontana, Emanuela Veniani, Letterio Runza, Stefano Ferrero, Silvano Bosari, Maura Menghi, Giovanni Marfia, Manuela Caroli, Rosamaria Silipigni, Silvana Guerneri, Silvia Tabano, Monica Miozzo
The World Health Organization recently revised the diagnosis of glioma, to integrate molecular parameters, including IDH mutations and codeletion (loss of heterozygosity; LOH) of chromosome arms 1p/19q, into the definitions of adult glioma histological subtypes. Mutations in the TERT promoter may also be useful for glioma diagnosis and prognosis. The integration of molecular markers into routine diagnosis requires their rapid and reliable assessment. We propose a MassARRAY (MS)-based test that can identify 1p/19q codeletion using quantitative SNP genotyping and, simultaneously, characterize hotspot mutations in the IDH1, IDH2, and TERT genes in tumor DNA...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28905256/erratum-to-imaging-correlates-for-the-2016-update-on-who-classification-of-grade-ii-iii-gliomas-implications-for-idh-1p-19q-and-atrx-status
#5
Rachel L Delfanti, David E Piccioni, Jason Handwerker, Naeim Bahrami, AnithaPriya Krishnan, Roshan Karunamuni, Jona A Hattangadi-Gluth, Tyler M Seibert, Ashwin Srikant, Karra A Jones, Vivian S Snyder, Anders M Dale, Nathan S White, Carrie R McDonald, Nikdokht Farid
In the initial online publication, the values in the last two rows in Table 1 were in the wrong rows. The original article has been corrected.
September 13, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28901970/the-2016-who-classification-of-central-nervous-system-tumors-what-neurologists-need-to-know
#6
John C DeWitt, Andreas Mock, David N Louis
PURPOSE OF REVIEW: The 2016 WHO classification of tumors of the central nervous system (2016 CNS WHO) features many changes that are relevant to neurologists treating patients with brain tumors as well as neurologists involved in basic, clinical, and epidemiological research. This review summarizes what neurologists need to know and will need to know in the next years. RECENT FINDINGS: The 2016 CNS WHO introduces diagnostic terms that 'integrate' histological and molecular information and suggests presenting diagnoses in a four-layered reporting format...
September 9, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28901965/anaplastic-gliomas-in-adults-an-update
#7
Cristina Izquierdo, Bastien Joubert, François Ducray
PURPOSE OF REVIEW: The current review summarizes recent advances on the oncogenesis, classification and treatment of adult anaplastic gliomas. RECENT FINDINGS: According to the 2016 WHO classification, three main molecular subgroups of adult diffuse anaplastic gliomas can be distinguished based on the 1p/19q codeletion and isocitrate dehydrogenase (IDH) mutation status. In the future, this classification may be further refined based on the telomerase reverse transcriptase promoter and alpha thalassemia/mental retardation syndrome X-linked mutation status, gene expression, DNA methylation and genomic profiling...
September 8, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28889246/the-preliminary-radiogenomics-association-between-mr-perfusion-imaging-parameters-and-genomic-biomarkers-and-their-predictive-performance-of-overall-survival-in-patients-with-glioblastoma
#8
Xiang Liu, Rajiv Mangla, Wei Tian, Xing Qiu, Dongmei Li, Kevin A Walter, Sven Ekholm, Mahlon D Johnson
The radiogenomics association of neovascularization is important for overall survival (OS) in glioblastoma patients and remains unclear. The purpose of this study is to assess the association between MR perfusion imaging derived parameters and genomic biomarkers of glioblastoma, and to evaluate their prognostic value. This retrospective study enrolled 41 patients with newly diagnosed glioblastoma. The mean and maximal relative cerebral blood volume (rCBV) ratio (rCBVmean and rCBVmax), derived from MR perfusion weighted imaging, of the enhancing tumor, as well as maximal rCBV ratio of peri-enhancing tumor area (rCBVperi-tumor) were measured...
September 9, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28887717/prognostic-importance-of-temozolomide-induced-neutropenia-in-glioblastoma-idh-wildtype-patients
#9
Taiichi Saito, Kazuhiko Sugiyama, Seiji Hama, Fumiyuki Yamasaki, Takeshi Takayasu, Ryo Nosaka, Yoshihiro Muragaki, Takakazu Kawamata, Kaoru Kurisu
Standard treatment for patients with primary glioblastoma (GBM) includes surgery, radiotherapy, and concomitant and adjuvant temozolomide (TMZ). Recent reports have demonstrated that TMZ-induced myelosuppression correlates with survival in patients with GBM. However, those results were evaluated before the 2016 revision of the World Health Organization classification. This study examined whether myelosuppression during concomitant TMZ phase correlates with prognosis in GBM, IDH-wildtype patients. We examined circulating blood cell counts in 50 patients with GBM, IDH-wildtype who received the standard treatment protocol between August 2005 and November 2015...
September 9, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28884377/idh-mutation-status-trumps-the-pignatti-risk-score-as-a-prognostic-marker-in-low-grade-gliomas
#10
Olatz Etxaniz, Cristina Carrato, Itziar de Aguirre, Cristina Queralt, Ana Muñoz, José L Ramirez, Rafael Rosell, Salvador Villà, Rocio Diaz, Ana Estival, Pilar Teixidor, Alberto Indacochea, Sara Ahjal, Laia Vilà, Carme Balañá
Management of low-grade gliomas (LGG) is based on clinical and radiologic features, including the Pignatti prognostic scoring system, which classifies patients as low- or high-risk. To determine whether molecular data can offer advantages over these features, we have examined the prognostic impact of several molecular alterations in LGG. In a cohort of 58 patients with LGG, we have retrospectively analyzed clinical and molecular characteristics, including the Pignatti criteria, IDH mutations, TP53 mutations, the 1p/19q deletion, and MGMT methylation, and correlated our findings with progression-free survival (PFS) and overall survival (OS)...
September 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28874004/glioma-groups-classified-by-idh-and-tert-promoter-mutations-remain-stable-among-primary-and-recurrent-gliomas
#11
Zhenyu Zhang, Aden Ka-Yin Chan, Xiaojie Ding, Yanxi Li, Ruiqi Zhang, Lingchao Chen, Ying Liu, Yin Wang, Ji Xiong, Ho-Keung Ng, Yu Yao, Liangfu Zhou
No abstract text is available yet for this article.
July 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28873367/idh1-mutation-is-an-independent-inferior-prognostic-indicator-for-patients-with-myelodysplastic-syndromes
#12
Na Wang, Fei Wang, Ningning Shan, Xiaohui Sui, Hongzhi Xu
BACKGROUND: Genomic sequencing technologies have identified isocitrate dehydrogenase (IDH) mutations in haematological malignancies. The prognostic implications of somatic IDH mutation (mIDH) in myelodysplastic syndromes (MDS) remain controversial. METHODS: Mutations in IDH1 and IDH2 were detected using genomic sequencing technologies in 97 patients with MDS. RESULTS: Seven (7.2%) mutations were identified: 3 in IDH1 (all R132C) and 4 in IDH2 (3 R140Q and 1 R140L)...
September 6, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28871469/imaging-correlates-for-the-2016-update-on-who-classification-of-grade-ii-iii-gliomas-implications-for-idh-1p-19q-and-atrx-status
#13
Rachel L Delfanti, David E Piccioni, Jason Handwerker, Naeim Bahrami, AnithaPriya Krishnan, Roshan Karunamuni, Jona A Hattangadi-Gluth, Tyler M Seibert, Ashwin Srikant, Karra A Jones, Vivian S Snyder, Anders M Dale, Nathan S White, Carrie R McDonald, Nikdokht Farid
The 2016 World Health Organization Classification of Tumors of the Central Nervous System incorporates the use of molecular information into the classification of brain tumors, including grade II and III gliomas, providing new prognostic information that cannot be delineated based on histopathology alone. We hypothesized that these genomic subgroups may also have distinct imaging features. A retrospective single institution study was performed on 40 patients with pathologically proven infiltrating WHO grade II/III gliomas with a pre-treatment MRI and molecular data on IDH, chromosomes 1p/19q and ATRX status...
September 4, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28870839/long-term-clinical-results-following-charite-iii-lumbar-total-disc-replacement
#14
Shibao Lu, Siyuan Sun, Chao Kong, Wenzhi Sun, Hailiang Hu, Qingyi Wang, Yong Hai
BACKGROUND CONTEXT: The lumbar total disc replacement (TDR) operation represents an alternative to lumbar fusion for the treatment of symptomatic lumbar intervertebral disc degeneration, and has gained increasing attention in recent years. PURPOSE: To assess clinical outcomes in a cohort of patients with TDR and the long-term survival rate of the prostheses. STUDY DESIGN: A retrospective, single-center clinical study. PATIENT SAMPLE: Thirty patients with a total of 35 prostheses after an average follow-up (FU) of 15...
September 1, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28866063/spinal-cord-astrocytoma-with-isocitrate-dehydrogenase-1-gene-mutation-a-case-report
#15
Keisuke Takai, Shota Tanaka, Takashi Sota, Akitake Mukasa, Takashi Komori, Makoto Taniguchi
BACKGROUND: In 2016, the World Health Organization (WHO) updated its classification of tumors, adding their genetic profiles to the conventional histopathological typing. CASE DESCRIPTION: The authors present herein the first case of a 44-year-old female with IDH-mutant WHO grade II diffuse spinal astrocytoma diagnosed on the basis of both histopathological and genetic findings. CONCLUSIONS: The present case underscores the significant role of a molecular genetic analysis in the differential diagnosis of intramedullary spinal gliomas...
August 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28851427/the-frequency-and-prognostic-effect-of-tert-promoter-mutation-in-diffuse-gliomas
#16
Yujin Lee, Jaemoon Koh, Seong-Ik Kim, Jae Kyung Won, Chul-Kee Park, Seung Hong Choi, Sung-Hye Park
Mutations in the telomerase reverse transcriptase gene promoter (TERTp) are common in glioblastomas (GBMs) and oligodendrogliomas (ODGs), and therefore, have a key role in tumorigenesis and may be of prognostic value. However, the extent of their prognostic importance in various gliomas is controversial. We studied 168 patients separated into five groups: Group 1: 65 patients with ODG carrying an IDH1 or IDH2 mutation (IDH-mutant) and 1p/19q-codeletion, Group 2: 23 patients with anaplastic astrocytoma (AA), IDH-mutant, Group 3: 13 patients with GBM, IDH-mutant, Group 4: 15 patients with AA, IDH-wildtype (WT), and Group 5: 52 patients with GBM, IDH-WT...
August 29, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28844952/targeting-cholangiocarcinoma
#17
REVIEW
Joachim C Mertens, Sumera Rizvi, Gregory J Gores
Cholangiocarcinoma (CCA) represents a diverse group of epithelial cancers associated with the biliary tract, and can best be stratified anatomically into intrahepatic (iCCA), perihilar (pCCA) and distal (dCCA) subsets. Molecular profiling has identified genetic aberrations associated with these anatomic subsets. For example, IDH catalytic site mutations and constitutively active FGFR2 fusion genes are predominantly identified in iCCA, whereas KRAS mutations and PRKACB fusions genes are identified in pCCA and dCCA...
August 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28840584/metabolic-enzymes-in-sarcomagenesis-progress-toward-biology-and-therapy
#18
Luyuan Li, Josiane E Eid, Ana C Paz, Jonathan C Trent
Cellular metabolism reprogramming is an emerging hallmark of cancer, which provides tumor cells with not only necessary energy but also crucial materials to support growth. Exploiting the unique features of cancer metabolism is promising in cancer therapies. The growing interest in this field has led to numerous inhibitors being developed against key molecules in metabolic pathways, though most of them are still in preclinical development. Potential targeted cancer cell metabolic pathways under investigation include glycolysis, tricarboxylic acid (TCA) cycle, oxidative phosphorylation (OXPHOS), glutaminolysis, pentose phosphate pathway (PPP), lipid synthesis, amino acid and nucleotide metabolism...
August 24, 2017: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
https://www.readbyqxmd.com/read/28837843/positive-influence-of-partial-resection-on-overall-survival-of-patients-with-overlapping-glioblastomas
#19
Johanna Quick-Weller, Stephanie Tritt, Peter Baumgarten, Jürgen Konczalla, Sepide Kashefiolasl, Anika Noack, Julia Tichy, Volker Seifert, Gerhard Marquardt
OBJECTIVES: Patients with overlapping glioblastomas (former known as gliomatosis cerebri according to the 2007 WHO classification) have a poor prognosis. Most of the patients undergo biopsy to confirm histopathological diagnosis. Treatment comprises chemotherapy, radiation and combination of both. We determined whether resection of the contrast enhancing tumor parts leads to a prolonged survival. PATIENTS AND METHODS: We performed a retrospective analysis and included 31 patients with overlapping glioblastomas (OG) who showed WHO IV in the initial histopathological examination...
June 29, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28837149/idh3-mediates-apoptosis-of-alveolar-epithelial-cells-type-2-due-to-mitochondrial-ca-2-uptake-during-hypocapnia
#20
Martina Kiefmann, Sascha Tank, Paula Keller, Christian Börnchen, Jan L Rinnenthal, Marc-Oliver Tritt, Leonie Schulte-Uentrop, Cynthia Olotu, Alwin E Goetz, Rainer Kiefmann
In adult respiratory distress syndrome (ARDS) pulmonary perfusion failure increases physiologic dead-space (VD/VT) correlating with mortality. High VD/VT results in alveolar hypocapnia, which has been demonstrated to cause edema formation, atelectasis, and surfactant depletion, evoked, at least in part, by apoptosis of alveolar epithelial cells (AEC). However, the mechanism underlying the hypocapnia-induced AEC apoptosis is unknown. Here, using fluorescent live-cell imaging of cultured AEC type 2 we could show that in terms of CO2 sensing the tricarboxylic acid cycle enzyme isocitrate dehydrogenase (IDH) 3 seems to be an important player because hypocapnia resulted independently from pH in an elevation of IDH3 activity and subsequently in an increase of NADH, the substrate of the respiratory chain...
August 24, 2017: Cell Death & Disease
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