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https://www.readbyqxmd.com/read/29224136/a-summary-of-the-biological-processes-disease-associated-changes-and-clinical-applications-of-dna-methylation
#1
Gitte Brinch Andersen, Jörg Tost
DNA methylation at cytosines followed by guanines, CpGs, forms one of the multiple layers of epigenetic mechanisms controlling and modulating gene expression through chromatin structure. It closely interacts with histone modifications and chromatin remodeling complexes to form the local genomic and higher-order chromatin landscape. DNA methylation is essential for proper mammalian development, crucial for imprinting and plays a role in maintaining genomic stability. DNA methylation patterns are susceptible to change in response to environmental stimuli such as diet or toxins, whereby the epigenome seems to be most vulnerable during early life...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29224109/testosterone-therapy-and-glucose-homeostasis-in-men-with-testosterone-deficiency-hypogonadism
#2
Farid Saad
Since the early 1990s, it has been recognized that testosterone (T) levels are lower in men with type 2 diabetes mellitus (T2DM) compared with nondiabetic men (controls). Hypogonadism has been reported in approximately 50% of men with T2DM with robust correlations with measures of obesity, such as waist circumference and body mass index (BMI). In longitudinal studies, hypogonadism has been identified as a predictor of incident T2DM. Experimental withdrawal of T led to acute decreased insulin sensitivity, which can be reversed by normalization of T concentrations...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29223985/external-validation-of-generic-and-cancer-specific-risk-stratification-tools-in-patients-with-pulmonary-embolism-and-active-cancer
#3
Erin R Weeda, Jonathan T Caranfa, Simon B Zeichner, Craig I Coleman, Elaine Nguyen, Christine G Kohn
Background: Numerous risk stratification tools exist to predict early post-pulmonary embolism (PE) mortality; however, few were specifically designed for use in patients with cancer. This study sought to evaluate the performance of 3 cancer-specific (RIETE, POMPE-C, and Font criteria) and 3 generic (Hestia, Pulmonary Embolism Severity Index [PESI], and Geneva prognostic score [GPS]) risk stratification tools for predicting 30-day post-PE mortality in patients with active cancer. Methods: We identified consecutive, adult, objectively confirmed patients with PE and active cancer presenting to our institution from November 2010 to January 2014...
December 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29223984/nccn-guidelines-insights-genetic-familial-high-risk-assessment-colorectal-version-3-2017
#4
Samir Gupta, Dawn Provenzale, Scott E Regenbogen, Heather Hampel, Thomas P Slavin, Michael J Hall, Xavier Llor, Daniel C Chung, Dennis J Ahnen, Travis Bray, Gregory Cooper, Dayna S Early, James M Ford, Francis M Giardiello, William Grady, Amy L Halverson, Stanley R Hamilton, Jason B Klapman, David W Larson, Audrey J Lazenby, Patrick M Lynch, Arnold J Markowitz, Robert J Mayer, Reid M Ness, Niloy Jewel Samadder, Moshe Shike, Shajanpeter Sugandha, Jennifer M Weiss, Mary A Dwyer, Ndiya Ogba
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide recommendations for the management of patients with high-risk syndromes associated with an increased risk of colorectal cancer (CRC). The NCCN Panel for Genetic/Familial High-Risk Assessment: Colorectal meets at least annually to assess comments from reviewers within their institutions, examine relevant data, and reevaluate and update their recommendations. These NCCN Guidelines Insights focus on genes newly associated with CRC risk on multigene panels, the associated evidence, and currently recommended management strategies...
December 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29223882/recurrent-renal-cancer-in-birt-hogg-dub%C3%A3-syndrome-a-case-report
#5
Hammad Ather, Nida Zahid
INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disease. It is caused by constitutional mutations in the FLCN gene. Since BHDS is a rare syndrome therefore it is unknown to many physicians. However, it is important to identify this rare syndrome at early stages because incidence of renal cancer in BHD patients is very high and its detection at early stages can prevent its metastasis. Hence, we want to present a case of BHDS and draw the attention of the treating physician to this rare inherited disorder and discuss its appropriate diagnosis and management...
November 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29223797/clinical-impact-of-adjuvant-radiation-therapy-delay-after-neoadjuvant-chemotherapy-in-locally-advanced-breast-cancer
#6
Saulo Brito Silva, Allan Andresson Lima Pereira, Gustavo Nader Marta, Kennya Medeiros Lopes de Barros Lima, Thiago Brasileiro de Freitas, Adriana Reis Brandão Matutino, Manoel Carlos Leonardi de Azevedo Souza, Renata Gondim Meira Velame de Azevedo, Pedro Antonio Hermida de Viveiros, Julianne Maria da Silva Lima, José Roberto Filassi, Heloísa de Andrade Carvalho, José Roberto Morales Piato, Max S Mano
BACKGROUND: and Purpose: Post-operative radiation therapy (PORT) is usually indicated for patients with breast cancer (BC) after neoadjuvant chemotherapy (NAC) and surgery. However, the optimal timing to initiation of PORT is currently unknown. MATERIAL AND METHODS: We retrospectively evaluated data from patients with BC who received PORT after NAC and surgery at our institution from 2008 to 2014. Patients were categorized into three groups according to the time between surgery and PORT: <8 weeks, 8-16 weeks and >16 weeks...
December 6, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29223598/prognosis-and-treatment-of-positive-peritoneal-cytology-in-early-endometrial-cancer-matched-cohort-analyses-from-the-national-cancer-database
#7
Brandon-Luke L Seagle, Amy L Alexander, Taliya Lantsman, Shohreh Shahabi
BACKGROUND: While positive peritoneal cytology is no longer included among the endometrial cancer staging criteria, FIGO recommends continued collection of pelvic washings for cytology in order to produce additional data that may be used to determine the significance of positive cytology for prognosis and treatment of endometrial cancer. OBJECTIVES: To validate that positive cytology is a predictor of decreased survival in early endometrial cancer and to test if adjuvant chemotherapy for positive cytology is associated with increased survival...
December 6, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29223564/indocyanine-green-assisted-parametrial-dissection-during-type-c1-radical-hysterectomy-after-sentinel-lymph-node-biopsy-in-early-stage-cervical-cancer
#8
Nicolò Bizzarri, Valentina Ghirardi, Ali Kucukmetin
OBJECTIVES: The standard treatment for FIGO stage 1B1 cervical cancer is radical hysterectomy (RH) [1]. Indocyanine-green (ICG) is a drug injected within the cervical stroma to detect the sentinel lymph node (SLN) in cervical cancer [2,3]. ICG travels through the lymphatic channels in the lateral parametrium, which results enhanced with green, before reaching the SLNs. This could help identifying the surgical landmarks. The aim of this video is to propose a new approach to perform parametrial dissection as part of RH under the guidance of ICG...
December 6, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29223479/long-term-efficacy-analysis-of-the-randomised-phase-ii-tryphaena-cardiac-safety-study-evaluating-pertuzumab-and-trastuzumab-plus-standard-neoadjuvant-anthracycline-containing-and-anthracycline-free-chemotherapy-regimens-in-patients-with-her2-positive-early
#9
Andreas Schneeweiss, Stephen Chia, Tamas Hickish, Vernon Harvey, Alexandru Eniu, Maeve Waldron-Lynch, Jennifer Eng-Wong, Sarah Kirk, Javier Cortés
BACKGROUND: We report long-term efficacy and cardiac safety outcomes in patients with HER2-positive early breast cancer treated with neoadjuvant pertuzumab plus trastuzumab with anthracycline-containing or anthracycline-free chemotherapy. METHODS: Descriptive efficacy analyses were conducted in patients randomised to group A (cycles 1-6: trastuzumab [8 mg/kg loading dose and 6 mg/kg maintenance] plus pertuzumab [840 mg loading dose and 420 mg maintenance], plus 5-fluorouracil, epirubicin and cyclophosphamide [FEC] [cycles 1-3; 500 mg/m2 5-fluorouracil/100 mg/m2 epirubicin/600 mg/m2 cyclophosphamide] then docetaxel [cycles 4-6; 75 mg/m2, escalated to 100 mg/m2 if well tolerated]), B (cycles 1-3: FEC, cycles 4-6: trastuzumab plus pertuzumab plus docetaxel as mentioned previously) or C (cycles 1-6: trastuzumab plus pertuzumab plus docetaxel [75 mg/m2, without dose escalation], and carboplatin [AUC 6]), five years after randomisation of the last patient...
December 7, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29223276/a-51-year-old-woman-with-an-increasing-chest-wall-mass-years-after-resection-of-an-early-stage-lung-cancer
#10
Ajay Dhakal, Hongbin Chen, Elisabeth U Dexter
A 51-year-old woman was found to have a new 14 × 6 mm soft tissue mass under the right serratus muscle on a CT scan of the chest performed for routine surveillance due to her history of stage I lung cancer. A follow-up CT scan performed 4 months later showed that the mass had increased in size to 22 × 8 mm. The patient presents to the oncology clinic to discuss the results of the CT scan. She has no pain or swelling on the right lateral chest and no cough, fever, or shortness of breath. She is at her baseline health with good appetite and functional status...
December 2017: Chest
https://www.readbyqxmd.com/read/29223109/genome-wide-analysis-of-barrett-s-adenocarcinoma-a-first-step-towards-identifying-patients-at-risk-and-developing-therapeutic-paths
#11
Yiyang Dai, Qing Wang, Adrian Gonzalez Lopez, Mario Anders, Peter Malfertheiner, Michael Vieth, Wolfgang Kemmner
BACKGROUND: Barrett's esophagus metaplasia is the key precursor lesion of esophageal adenocarcinoma. The aim of this study was to find a subset of markers that may allow the identification of patients at risk for esophageal adenocarcinoma, and to determine genes differentially expressed in esophageal squamous cell carcinoma. METHODS: Laser capture microdissection technique was applied to procure cells from defined regions. Genome-wide RNA profiling was performed on esophageal adenocarcinoma (n = 21), Barrett's esophagus (n = 20), esophageal squamous carcinoma (n = 9) and healthy esophageal biopsies (n = 18) using the Affymetrix Human Genome U133plus 2...
December 6, 2017: Translational Oncology
https://www.readbyqxmd.com/read/29222807/long-non-coding-rna-expression-in-bladder-cancer
#12
REVIEW
Mohammad Taheri, Mir Davood Omrani, Soudeh Ghafouri-Fard
The advent of novel high-throughput sequencing methods has facilitated identification of non-coding RNAs with fundamental roles in cellular biological and pathological conditions. A group of these consisting of at least 200 nucleotides are called long non-coding RNAs (lncRNAs). Their participation in the pathogenesis of cancer has been highlighted in recent years. Bladder cancer, one of the most prevalent cancers worldwide, exhibits altered expression levels of several lncRNAs. Several in vitro and in vivo studies have assessed the effects of silencing RNAs on cancer cell phenotypes and in vivo tumor growth...
December 8, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/29222715/clinical-validation-study-of-dried-blood-spot-for-determining-everolimus-concentration-in-patients-with-cancer
#13
A E C A B Willemsen, L M Knapen, Y M de Beer, R J M Brüggemann, S Croes, C M L van Herpen, N P van Erp
PURPOSE: Everolimus treatment is seriously hampered by its toxicity profile. As a relationship between everolimus exposure and effectiveness and toxicity has been established, early and ongoing concentration measurement can be key to individualize the dose and optimize treatment outcomes. Dried blood spot (DBS) facilitates sampling at a patients' home and thereby eases dose individualization. The aim of this study is to determine the agreement and predictive performance of DBS compared to whole blood (WB) to measure everolimus concentrations in cancer patients...
December 8, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29222623/tumor-infiltrating-lymphocytes-in-breast-cancer-patients-with-progressive-disease-during-neoadjuvant-chemotherapy
#14
Jacques Raphael, S Nofech-Mozes, T Paramsothy, N Li, S Gandhi
A minority of breast cancer (BC) patients progress during neoadjuvant chemotherapy (NCT). The aim of this study was to assess the value of Tumor infiltrating lymphocytes (TILs) in such a high-risk population where valid biomarkers are eagerly needed. A retrospective review identified BC patients who either progressed during NCT or achieved a pathologic complete response (pCR). An experienced BC pathologist semi-quantified stromal TILs in pre-treatment core biopsies using hematoxylin and eosin stained slides...
December 8, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29222441/robust-rna-based-in-situ-mutation-detection-delineates-colorectal-cancer-subclonal-evolution
#15
Ann-Marie Baker, Weini Huang, Xiao-Ming Mindy Wang, Marnix Jansen, Xiao-Jun Ma, Jeffrey Kim, Courtney M Anderson, Xingyong Wu, Liuliu Pan, Nan Su, Yuling Luo, Enric Domingo, Timon Heide, Andrea Sottoriva, Annabelle Lewis, Andrew D Beggs, Nicholas A Wright, Manuel Rodriguez-Justo, Emily Park, Ian Tomlinson, Trevor A Graham
Intra-tumor heterogeneity (ITH) is a major underlying cause of therapy resistance and disease recurrence, and is a read-out of tumor growth. Current genetic ITH analysis methods do not preserve spatial context and may not detect rare subclones. Here, we address these shortfalls by developing and validating BaseScope-a novel mutation-specific RNA in situ hybridization assay. We target common point mutations in the BRAF, KRAS and PIK3CA oncogenes in archival colorectal cancer samples to precisely map the spatial and morphological context of mutant subclones...
December 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/29222421/the-transcriptomic-signature-of-disease-development-and-progression-of-nonalcoholic-fatty-liver-disease
#16
Sophie Cazanave, Alexei Podtelezhnikov, Kristian Jensen, Mulugeta Seneshaw, Divya P Kumar, Hae-Ki Min, Prasanna K Santhekadur, Bubu Banini, Adolfo Gabriele Mauro, Abdul M Oseini, Robert Vincent, Keith Q Tanis, Andrea L Webber, Liangsu Wang, Pierre Bedossa, Faridoddin Mirshahi, Arun J Sanyal
A longitudinal molecular model of the development and progression of nonalcoholic fatty liver disease (NAFLD) over time is lacking. We have recently validated a high fat/sugar water-induced animal (an isogenic strain of C57BL/6 J:129S1/SvImJ mice) model of NAFLD that closely mimics most aspects of human disease. The hepatic transcriptome of such mice with fatty liver (8 weeks), steatohepatitis with early fibrosis (16-24 weeks) and advanced fibrosis (52 weeks) after initiation of the diet was evaluated and compared to mice on chow diet...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29222262/pediatric-leukemia-susceptibility-disorders-manifestations-and-management
#17
REVIEW
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222126/autoimmune-crmp5-neuropathy-phenotype-and-outcome-defined-from-105-cases
#18
Divyanshu Dubey, Vanda A Lennon, Avi Gadoth, Sean J Pittock, Eoin P Flanagan, John E Schmeling, Andrew McKeon, Christopher J Klein
OBJECTIVE: To establish the phenotype and clinical outcomes of collapsin response-mediator protein-5 (CRMP5) autoimmune neuropathy in comparison with anti-neuronal nuclear antibody type 1 (ANNA1)-immunoglobulin G (IgG) neuropathy. METHODS: Patients with CRMP5-IgG and/or ANNA1-IgGs were identified in our service-line testing, and medical records were reviewed. RESULTS: One hundred five patients with CRMP5-IgG neuropathy (88% smokers; 69% having cancer, most commonly small cell lung cancer [75%]) were identified and compared to 51 patients with ANNA1-IgG neuropathy, 27 with coexisting CRMP5-IgG...
December 8, 2017: Neurology
https://www.readbyqxmd.com/read/29221926/plasma-protein-profiling-of-patients-with-intraductal-papillary-mucinous-neoplasm-of-the-pancreas-as-potential-precursor-lesions-of-pancreatic-cancer
#19
Maria Ilies, Praveen Kumar Sappa, Cristina Adela Iuga, Felicia Loghin, Manuela Gesell Salazar, Frank Ulrich Weiss, Georg Beyer, Markus M Lerch, Uwe Völker, Julia Mayerle, Elke Hammer
Efforts for the early diagnosis of the pancreatic ductal adenocarcinoma (PDAC) have recently been driven to one of the precursor lesions, namely intraductal papillary mucinous neoplasm of the pancreas (IPMN). Only a few studies have focused on IPMN molecular biology and its overall progression to cancer. Therefore, IPMN lacks comprehensive characterization which makes its clinical management controversial. In this study, we characterized plasma proteins in the presence of IPMNs in comparison to healthy controls, chronic pancreatitis, and PDAC by a proteomics approach using data-independent acquisition based mass spectrometry...
December 5, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29221736/differential-effects-of-operative-complications-on-survival-after-surgery-for-primary-lung-cancer
#20
Felix G Fernandez, Andrzej S Kosinski, Anthony P Furnary, Mark Onaitis, Sunghee Kim, Robert H Habib, Betty C Tong, Patricia Cowper, Daniel Boffa, Jeffrey P Jacobs, Cameron D Wright, Joe B Putnam
OBJECTIVE: Complications adversely affect survival after lung cancer surgery. We tested the hypothesis that effects of complications after lung cancer surgery on survival vary substantially across the spectrum of postoperative complications. METHODS: The Society of Thoracic Surgeons General Thoracic Surgery Database was linked to Medicare data for lung cancer resections from 2002 through 2013. Linkage was achieved for 29,899 patients. A survival model was created that included operative complications as explanatory variables and adjusted for relevant baseline covariates...
November 13, 2017: Journal of Thoracic and Cardiovascular Surgery
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