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https://www.readbyqxmd.com/read/28724047/correlation-between-virulence-markers-of-helicobacter-pylori-in-the-oral-cavity-and-gastric-biopsies
#1
Myriam Lucrecia Medina, Marcelo Gabriel Medina, Luis Antonio Merino
BACKGROUND: The clinical outcome of Helicobacter pylori infection has been associated with virulence factors. The presence of these factors is useful as molecular markers in the identification of the high risk for developing severe gastric pathologies. OBJECTIVE: To correlate the presence of virulence markers cagA and bab2A of H. pylori in oral and gastric biopsy samples. METHODS: An observational, prospective, descriptive, and cross-sectional study was carried out between September 2011 and September 2012...
July 13, 2017: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/28723942/comparative-analysis-of-vaginal-microbiota-sampling-using-16s-rrna-gene-analysis
#2
Seppo Virtanen, Ilkka Kalliala, Pekka Nieminen, Anne Salonen
BACKGROUND: Molecular methods such as next-generation sequencing are actively being employed to characterize the vaginal microbiota in health and disease. Previous studies have focused on characterizing the biological variation in the microbiota, and less is known about how factors related to sampling contribute to the results. Our aim was to investigate the impact of a sampling device and anatomical sampling site on the quantitative and qualitative outcomes relevant for vaginal microbiota research...
2017: PloS One
https://www.readbyqxmd.com/read/28723492/validation-of-gene-expression-signatures-to-identify-low-risk-clear-cell-renal-cell-carcinoma-patients-at-higher-risk-for-disease-related-death
#3
Mansi Parasramka, Daniel J Serie, Yan W Asmann, Jeanette E Eckel-Passow, Erik P Castle, Melissa L Stanton, Brad C Leibovich, Robert Houston Thompson, E Aubrey Thompson, Alexander S Parker, Thai H Ho, Richard W Joseph
BACKGROUND: Approximately 5-10% of patients with "low-risk" clear cell renal cell carcinoma (ccRCC), as stratified by externally validated clinicopathologic prognostic algorithms, eventually have disease relapse and die. Improving prognostic algorithms for these low-risk patients could help to provide improved individualized surveillance recommendations. OBJECTIVE: To identify genes that are differentially expressed in patients with low-risk ccRCC who did and did not die of their disease...
December 15, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28723489/immunotherapy-for-renal-cancer-sequencing-and-combinations
#4
REVIEW
Grant D Stewart, Maria De Santis, Bernard Escudier, Thomas Powles, Guru Sonpavde
CONTEXT: Current therapy for renal cell carcinoma (RCC) generally consists of the sequential administration of single agent therapy. Given the advent of T-cell checkpoint inhibitors, the role of combinations including these agents is being intensely interrogated. OBJECTIVE: To evaluate ongoing trials of combinations including immunotherapy and sequencing of agents to treat RCC. EVIDENCE ACQUISITION: Recent data and ongoing trials were analyzed to evaluate the direction of research in this arena...
December 15, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28723478/low-t-cell-receptor-diversity-high-somatic-mutation-burden-and-high-neoantigen-load-as-predictors-of-clinical-outcome-in-muscle-invasive-bladder-cancer
#5
Noura J Choudhury, Kazuma Kiyotani, Kai Lee Yap, Alexa Campanile, Tatjana Antic, Poh Yin Yew, Gary Steinberg, Jae Hyun Park, Yusuke Nakamura, Peter H O'Donnell
BACKGROUND: The success of cancer immunotherapies has highlighted the potent ability of local adaptive immune responses to eradicate cancer cells by targeting neoantigens generated by somatic alterations. However, how these factors interact to drive the natural history of muscle-invasive bladder cancer (MIBC) is not well understood. OBJECTIVE: To investigate the role of immune regulation in MIBC disease progression, we performed massively parallel T-cell receptor (TCR) sequencing of tumor-infiltrating T cells (TILs), in silico neoantigen prediction from exome sequences, and expression analysis of immune-related genes...
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28723476/charting-recent-progress-and-challenges-in-metastatic-castration-resistant-prostate-cancer-is-there-an-optimal-treatment-sequence
#6
REVIEW
Stéphane Oudard, Pablo Maroto, Gaston Demonty, Winald R Gerritsen
CONTEXT: Recent developments in the treatment of metastatic castration-resistant prostate cancer (mCRPC) have led to uncertainty about the optimal sequence of agents. OBJECTIVE: To review and assess treatment options and sequence in patients with mCRPC. EVIDENCE ACQUISITION: To identify data on the optimal use of approved treatments, we searched PubMed for studies on the use of recently approved agents for men with mCRPC published before March 2015...
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28723379/minilaparoendoscopic-single-site-pyeloplasty-the-best-compromise-between-surgeon-s-ergonomy-and-patient-s-cosmesis-ideal-phase-2a
#7
Francesco Greco, Giovannalberto Pini, Stefano Alba, Vincenzo Maria Altieri, Paolo Verze, Vincenzo Mirone
BACKGROUND: Laparoendoscopic single-site (LESS) surgery and minilaparoscopy (ML) represent the evolution of laparoscopy for the treatment of urologic diseases. OBJECTIVE: To describe the technique and report the surgical outcomes of minilaparoendoscopic single-site dismembered pyeloplasty (MILESS-DP), a new technique overcoming the technical limitations of LESS and ML, and equally combining the advantages of both these surgical procedures. DESIGN, SETTING, AND PARTICIPANTS: Twenty consecutive patients underwent MILESS-DP for ureteropelvic junction obstruction...
August 2016: European Urology Focus
https://www.readbyqxmd.com/read/28723342/molecular-analysis-of-circulating-free-dna-from-lung-cancer-patients-in-routine-laboratory-practice-a-cross-platform-comparison-of-three-different-molecular-methods-for-mutation-detection
#8
Stephan Bartels, Sascha Persing, Britta Hasemeier, Elisa Schipper, Hans Kreipe, Ulrich Lehmann
Cell-free DNA (cfDNA), which is isolated from blood plasma, represents a noninvasive source for the detection of mutations conferring resistance against epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors in non-small-cell lung cancer patients. In advanced disease stages, performing regular biopsies is often not possible because of the general health condition of the patients. Furthermore, a biopsy of a single tumor lesion or metastasis may not reflect the heterogeneous genotype of the tumor and its metastases...
July 16, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28722833/targeted-next-generation-sequencing-using-a-multigene-panel-in-myeloid-neoplasms-implementation-in-clinical-diagnostics
#9
B Maes, J Willemse, A Broekmans, R Smets, B Cruys, N Put, V Madoe, M Janssen, O Soepenberg, G Bries, I Vrelust, R Achten, K Van Pelt, K Buvé, K Theunissen, V Peeters, G Froyen
INTRODUCTION: Detection of mutations in patients with myeloid neoplasms (MNs) has shown great potential for diagnostic and prognostic purposes. Next-generation sequencing (NGS) is currently implemented for the diagnostic profiling of the four major MN subgroups. METHODS: First, we validated the targeted NGS approach using the TruSight Myeloid panel. Next, we screened 287 patients with a clinical suspicion of MN and 61 follow-up patients with documented MN. RESULTS: Validation of the NGS workflow resulted in maximal precision, accuracy, sensitivity, and specificity for gene variants with an allele frequency of at least 5% and a minimal read depth of 300...
July 19, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#10
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28722683/comparison-of-direct-sequencing-and-amplification-refractory-mutation-system-for-detecting-epidermal-growth-factor-receptor-mutation-in-non-small-cell-lung-cancer-patients-a-systematic-review-and-meta-analysis
#11
Qi Feng, Zu-Yao Yang, Jia-Tong Zhang, Jin-Ling Tang
BACKGROUND: Direct sequencing and amplification refractory mutation system (ARMS) are commonly used to detect epidermal growth factor receptor (EGFR) mutation status in patients with non-small-cell lung cancer to inform the decision-making on tyrosine kinase inhibitors treatment. This study aimed to systematically compare the two methods in terms of the rate of detected mutations and the association of detected mutations with clinical outcomes. MATERIAL AND METHODS: PubMed, EMBASE, China National Knowledge Infrastructure (in Chinese) and Wanfang database (in Chinese) were searched to identify relevant studies...
July 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28722566/molecular-epidemiology-of-staphylococcus-aureus-skin-and-soft-tissue-infections-in-the-lao-people-s-democratic-republic
#12
Alicia D Yeap, Kate Woods, David A B Dance, Bruno Pichon, Sayaphet Rattanavong, Viengmon Davong, Rattanaphone Phetsouvanh, Paul N Newton, Nandini Shetty, Angela M Kearns
This is the first report of the molecular epidemiology of Staphylococcus aureus from skin and soft tissue infections (SSTI) in Laos. We selected a random sample of 96 S. aureus SSTI isolates received by the Microbiology Laboratory, Mahosot Hospital, Vientiane, between July 2012 and June 2014, including representation from seven referral hospitals. Isolates underwent susceptibility testing by Clinical and Laboratory Standards Institute methods, spa typing and DNA microarray analysis, with whole genome sequencing for rare lineages...
May 30, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28722367/-next-generation-sequencing-a-diagnostic-tool-for-inherited-immune-defects
#13
Stéphanie Droz-Georget, Orbicia Riccio, Béryl Royer-Bertrand, Andrea Superti-Furga, Fabio Candotti
Establishing the definitive diagnosis in the case of inherited immune defects (IID) is often challenging because the clinical features can be heterogeneous, atypical and overlapping different disease entities. The next generation sequencing technology (NGS) allows identifying genetic variants that are responsible for the observed clinical presentations. The use of NGS applied to the genes mutated in IIDs or known to be involved in the development, differentiation and regulation of the immune system allows to target hundreds of relevant genes in well characterized patients suspected of carrying inherited immune defects...
April 5, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28722124/pancreatic-undifferentiated-carcinoma-with-osteoclast-like-giant-cells-is-genetically-similar-to-but-clinically-distinct-from-conventional-ductal-adenocarcinoma
#14
Claudio Luchini, Antonio Pea, Gemma Lionheart, Andrea Mafficini, Alessia Nottegar, Nicola Veronese, Peter Chianchiano, Lodewijk A A Brosens, Michaël Noë, G Johan A Offerhaus, Raluca Yonescu, Yi Ning, Giuseppe Malleo, Giulio Riva, Paola Piccoli, Ivana Cataldo, Paola Capelli, Giuseppe Zamboni, Aldo Scarpa, Laura D Wood
Undifferentiated carcinoma of the pancreas with osteoclast-like giant cells (UCOGC) is currently considered a morphologically and clinically distinct variant of pancreatic ductal adenocarcinoma (PDAC). In this study, we report clinical and pathological features of a series of 22 UCOGC, including the whole exome sequencing of 8 UCOGC. We observed that 60% of the UCOGC contained a well-defined epithelial component and that patients with pure UCOGC had a significantly better prognosis than did those with an UCOGC with an associated epithelial neoplasm...
July 19, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28722090/-evaluation-of-a-new-closure-technique-of-large-defects-after-endoscopic-full-thickness-resection
#15
Xiao Liu, Lizhou Dou, Yong Liu, Shun He, Yueming Zhang, Xinying Yu, Yan Ke, Xudong Liu, Ruigang Wang, Guiqi Wang
OBJECTIVE: To investigate the security and efficacy of a new endoscopic closure method of large defects after endoscopic full-thickness resection (EFTR) double purse-string suture using two endoloops and metallic clips via single-channel endoscopy. METHODS: Clinical data of 23 cases with submucosal tumors (SMT) who received endoscopic resection from June 2015 to July 2016 in our National Cancer Center were collected. For gastric and esophageal SMTs or the mucosa layer injured during submucosal tunneling endoscopic resection (STER), double purse-string suture was conducted after EFTR...
July 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28721930/pharmacoresistant-epileptic-eyelid-twitching-in-a-child-with-a-mutation-in-syngap1
#16
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, Shinji Saitoh, Masachika Kai, Kaori Adachi, Yoko Nishimura, Eiji Nanba, Yoshihiro Maegaki
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28721901/psmb8-as-a-candidate-marker-of-responsiveness-to-preoperative-radiation-therapy-in-rectal-cancer-patients
#17
Ye Jin Ha, Ka Hee Tak, Chan Wook Kim, Seon Ae Roh, Eun Kyung Choi, Dong Hyung Cho, Jeong Hwan Kim, Seon Kyu Kim, Seon Young Kim, Yong Sung Kim, Jin Cheon Kim
PURPOSE: The ability to predict individual responsiveness to cancer therapy is urgently needed. This is particularly true for patients with locally advanced rectal cancer (LARC) because a large proportion are resistant to preoperative chemoradiation therapy (CRT). In this study, we sought to identify markers that could predict response by comparing the gene expression profiles of the tumors of patients who received preoperative CRT. METHODS AND MATERIALS: The basal gene expression profiles of tumors from 22 LARC patients who were responders (n=9) and nonresponders (n=13) to preoperative CRT were analyzed using RNA sequencing (RNA-Seq)...
August 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28721808/molecular-tests-for-the-choice-of-cancer-therapy
#18
Anna P Sokolenko, Evgeny N Imyanitov
There are over a dozen of approved cancer drugs, whose administration is tailored to predictive laboratory tests. The examples include estrogen and progesterone receptor status determination for the use of endocrine therapy, HER2 assessment for the administration of HER2-targeting agents, EGFR and ALK gene testing for lung cancer treatment, BRAF analysis in melanoma, etc. While first predictive tests relied on relatively easy laboratory procedures, more recent developments require rather sophisticated assays...
July 19, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28721448/-pi-rads-2-0-for-prostate-mri
#19
T Franiel, M Röthke
The PI-RADS 2.0 classification was established by an international collaboration of the European Society of Urogenital Radiology (ESUR), the American College of Radiology (ACR), and AdMetech Foundation to globally standardize the acquisition and interpretation of multiparametric prostate magnetic resonance imaging (MRI). The PI-RADS 2.0 aims to improve the detection, localization, staging and risk stratification of patients with suspected or histologically confirmed prostate cancer. Suspicious areas on T2-weighted (T2w) MRI, diffusion-weighted MRI (DWI) and dynamic contrast-enhanced MRI (DCE-MRI) were assessed for the presence of a clinically significant prostate cancer with scale from 1 to 5 with 5 being most likely to represent clinically significant prostate cancer...
July 18, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28721353/hepatitis-e-virus-associated-meningoencephalitis-in-a-lung-transplant-recipient-diagnosed-by-clinical-metagenomic-sequencing
#20
Jamie A Murkey, Kara W Chew, Margrit Carlson, Chelsea L Shannon, Deepika Sirohi, Hannah A Sample, Michael R Wilson, Paul Vespa, Romney M Humphries, Steve Miller, Jeffrey D Klausner, Charles Y Chiu
Hepatitis E virus (HEV) infection uncommonly causes chronic hepatitis and neurologic disease. We describe a case of genotype 3a HEV meningoencephalitis diagnosed by metagenomic next-generation sequencing, illustrating the power of an unbiased molecular approach to microbial testing and the first reported case of HEV infection presumably acquired through lung transplantation.
2017: Open Forum Infectious Diseases
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