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low level mutation

Sanaz Tabarestani, Marzieh Motallebi, Mohammad Esmaeil Akbari
CONTEXT: Breast cancer is the most common cancer in women worldwide. Estrogen receptor (ER) positive breast cancer constitutes the majority of these cancers. Hormone therapy has significantly improved clinical outcomes for early- and late-stage hormone receptor positive breast cancer. Although most patients with early stage breast cancer are treated with curative intent, approximately 20% - 30% of patients eventually experience a recurrence. During the last two decades, there have been tremendous efforts to understand the biological mechanisms of hormone therapy resistance, with the ultimate goal of implementing new therapeutic strategies to improve the current treatments for ER positive breast cancer...
August 2016: Iranian Journal of Cancer Prevention
Afshin Shirkani, Mohammad Shahrooei, Gholamreza Azizi, Hassan Rokni-Zadeh, Hassan Abolhassani, Shokrollah Farrokhi, Glynis Frans, Xavier Bossuyt, Asghar Aghamohammadi
ZAP-70 deficiency is a rare autosomal recessive form of combined immunodeficiency (CID) characterized by selective absence of circulating CD8 T cells with low, normal, or increased CD4 T cells in peripheral blood. Up to now, 14 unique mutations in the ZAP70 gene have been identified in patients with ZAP-70-related CID. We present a 3-year-old boy with a history of recurrent bacterial infections and autoimmunity. Initial laboratory findings showed a normal total lymphocyte count, but low levels of CD8 and CD4 T cells and an abnormal lymphocyte proliferation response...
October 19, 2016: Immunological Investigations
Lei Wei, Antonios Papanicolau-Sengos, Song Liu, Jianmin Wang, Jeffrey M Conroy, Sean T Glenn, Elizabeth Brese, Qiang Hu, Kiersten Marie Miles, Blake Burgher, Maochun Qin, Karen Head, Angela R Omilian, Wiam Bshara, John Krolewski, Donald L Trump, Candace S Johnson, Carl D Morrison
BACKGROUND: The rapid adoption of next-generation sequencing provides an efficient system for detecting somatic alterations in neoplasms. The detection of such alterations requires a matched non-neoplastic sample for adequate filtering of non-somatic events such as germline polymorphisms. Non-neoplastic tissue adjacent to the excised neoplasm is often used for this purpose as it is simultaneously collected and generally contains the same tissue type as the neoplasm. Following NGS analysis, we and others have frequently observed low-level somatic mutations in these non-neoplastic tissues, which may impose additional challenges to somatic mutation detection as it complicates germline variant filtering...
October 19, 2016: BMC Medical Genomics
Jeroen Bremer, Olivier Bornert, Alexander Nyström, Antoni Gostynski, Marcel F Jonkman, Annemieke Aartsma-Rus, Peter C van den Akker, Anna Mg Pasmooij
The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most patients carry exonic point mutations or small insertions/deletions, most exons of COL7A1 are in-frame, and low levels of type VII collagen already drastically improve the disease phenotype, this gene seems a perfect candidate for antisense oligonucleotide (AON)-mediated exon skipping...
October 18, 2016: Molecular Therapy. Nucleic Acids
Zekiye Hasbek, Ömer Tamer Doğan, İsmail Sarı, Birsen Yücel, Mehmet Metin Şeker, Bülent Turgut, Serdar Berk, Yavuz Siliğ
OBJECTIVE: Mutations in the p53 gene are the most commonly observed genetic abnormalities in malignancies. The purpose of this study was to assess the diagnostic value of serum anti-p53 antibody (Ab) along with the correlation between serum anti-p53 Ab level and quantitative positron emission tomography (PET) parameters such as maximum standardized uptake value (SUVmax), SUVave, metabolic tumor volume, total lesion glycolysis (TLG) and tumor size. METHODS: Serum anti-p53 Ab level was studied in three groups...
October 5, 2016: Molecular Imaging and Radionuclide Therapy
Susanne Hafner, Sabine Haubensak, Tanusree Paul, Oliver Zolk
Background | Differences (polymorphisms) in genes encoding drug targets, drug transport proteins, or drug metabolizing enzymes may be responsible, among other factors, for the observed variation in patients' responses to medications. The field of pharmacogenetics aims to identify patients at higher genetically-determined risk of adverse effects or poor response to medication. This information would allow for modification of dosage or substitution with alternative therapy. However, there is a lack of awareness of pharmacogenetic clinical practise guidelines...
October 2016: Deutsche Medizinische Wochenschrift
Xinli Lu, Xianjiang Kang, Yongjian Liu, Yan Li, Suliang Chen, Jingyun Li, Ze Cui
Sexual exposure has been the predominant route of HIV-1 spread in Hebei Province, China. However, little information is available on HIV-1 transmitted drug resistance (TDR) among HIV-1 infected youths aged 16-25 years who are infected with HIV-1 and sexually active. In this study, the overall prevalence of TDR was 6.6% (10/152), a moderate level (5.0%-15.0%) according to World Health Organization Threshold Survey guidelines. However, the prevalence of TDR to protease inhibitors and non-nucleoside reverse transcriptase inhibitors was 4...
October 17, 2016: AIDS Research and Human Retroviruses
Zhen Wang, Rong-Hui Xia, Dong-Xia Ye, Jiang Li
OBJECTIVES: To investigate the clinicopathological characteristics, human papillomavirus (HPV) infection, p53 expression, and TP53 mutations in oropharyngeal squamous cell carcinoma (OPSCC) and determine their utility as prognostic predictors in a primarily eastern Chinese population. METHODS: The HPV infection status was tested via p16INK4A immunohistochemistry and validated using PCR, reverse blot hybridization and in situ hybridization (ISH) in 188 OPSCC samples...
2016: PloS One
Ivain Martinossi-Allibert, Göran Arnqvist, David Berger
Sexual selection can increase rates of adaptation by imposing stronger selection in males, thereby allowing efficient purging of the mutation load on population fitness at a low demographic cost. Indeed, sexual selection tends to be male-biased throughout the animal kingdom, but little empirical work has explored the ecological sensitivity of this sex difference. In this study, we generated theoretical predictions of sex-specific strengths of selection, environmental sensitivities and genotype-by-environment interactions, and tested them in seed beetles by manipulating either larval host plant or rearing temperature...
October 17, 2016: Journal of Evolutionary Biology
Yoshiki Nando, Jiro Watari, Chiyomi Ito, Ken Hara, Takahisa Yamasaki, Takuya Okugawa, Takashi Kondo, Tomoaki Kono, Katsuyuki Tozawa, Toshihiko Tomita, Yoshio Ohda, Tadayuki Oshima, Hirokazu Fukui, Nagahide Matsubara, Naohiro Tomita, Seiichi Hirota, Hiroto Miwa
It is recommended that small (6-10 mm) lesions be treated with endoscopic resection (ER), while diminutive (≤ 5 mm) lesions are not currently an indication for ER according to the Japanese guidelines. The aim of this study was to evaluate the molecular alterations, and therefore treatment indications, in diminutive vs. small tubular adenoma (TA). We prospectively analyzed genetic instability, including microsatellite instability (MSI) and loss of heterozygosity, methylation status, KRAS/BRAF mutations, and Ki-67 staining in 96 TAs without a villous component...
October 13, 2016: Human Pathology
Wen-Chih Huang, Chien-Chen Tsai, Chih-Chieh Chan
BACKGROUND/PURPOSE: Cholangiocarcinoma (CC) is a fatal malignancy originating from biliary tracts and constitutes approximately 10-20% of hepatobiliary cancers. CC is characterized by a very poor prognosis. The definite molecular mechanisms leading to oncogenesis remain unclear. This study aimed to perform mutation analysis and copy number changes of KRAS and BRAF genes of CC in Taiwan. METHODS: A total of 182 cases of biliary tact CC were studied for point mutation and quantitative real-time polymerase chain reaction analysis of KRAS and BRAF genes...
October 10, 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Nicolas Rodrigue, Nicolas Lartillot
Codon substitution models have traditionally attempted to uncover signatures of adaptation within protein-coding genes by contrasting the rates of synonymous and nonsynonymous substitutions. Another modeling approach, known as the mutation-selection framework, attempts to explicitly account for selective patterns at the amino acid level, with some approaches allowing for heterogeneity in these patterns across codon sites. Under such a model, substitutions at a given position occur at the neutral or nearly-neutral rate when they are synonymous, or when they correspond to replacements between amino acids of similar fitness; substitutions from high to low (low to high) fitness amino acids have comparatively low (high) rates...
October 15, 2016: Molecular Biology and Evolution
Yu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, Shinichi Magara, Hideshi Kawashima, Noriyuki Akasaka, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epilepsy, and leukodystrophy. We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement. Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy...
October 12, 2016: Brain & Development
Amedeo F Capetti, Gaetana Sterrantino, Maria Vittoria Cossu, GianCarlo Orofino, Giorgio Barbarini, Giuseppe V De Socio, Simona Di Giambenedetto, Antonio Di Biagio, Benedetto M Celesia, Barbara Argenteri, Giuliano Rizzardini
INTRODUCTION: Little information is available on the efficacy and safety of the dual combination of ripivirine plus dolutegravir. This work aims at beginning to fill this gap. METHODS: All HIV-1 infected subjects treated with ripivirine plus dolutegravir between October 2014 and September 2015 in eight Italian centres were included in an observational cohort. Data were collected at baseline and at weeks 4, 12, 24 and 48. RESULTS: One hundred and thirty-two subjects were followed for a median of 24 months, mean 33 months...
2016: PloS One
Alyssa M Krasinskas, Gerard J Oakley, Pelin Bagci, Kee-Taek Jang, Shih-Fan Kuan, Michelle D Reid, Ipek Erbarut, Volkan Adsay
Pancreatic cysts >1 cm lined by nonpapillary mucinous epithelium without ovarian-type stroma pose diagnostic challenges. The term "simple mucinous cyst" was recently proposed for this entity. Our goal was to determine the clinicopathologic characteristics of these cysts, as they have not been previously described. Of the 39 patients with pancreatic resections included in this study, the mean age was 65 years and the female-to-male ratio was 4:1. The characteristics of the cysts are as follows: 82% had elevated cyst fluid carcinoembryonic antigen levels, 67% were unilocular, 69% occurred in the body/tail, 92% did not communicate with pancreatic ducts, the mean size was 2...
October 12, 2016: American Journal of Surgical Pathology
Alexander Levstik, Alan Stuart, Paul C Adams
BACKGROUND: Previous studies in high and low expressors has demonstrated that a variant in the GNPAT gene (D519G, Rs11558492, chromosome 1, exon 11) has been associated with severe iron overload in C282Y homozygotes for hemochromatosis. In this study, a GNPAT variant was assessed prospectively in patients referred for HFE testing over a range of serum ferritin levels. MATERIAL AND METHODS: Consecutive patients sent for HFE testing were studied for the GNPAT variant using a TaqMan kit assay (Life Technologies, Burlington, ON)...
November 2016: Annals of Hepatology
Zuhal Eroglu, Ece Harman, Egemen Vardarli, Meral Kayikcioglu, Asli Tetik Vardarli
BACKGROUND: Dyslipidemia has a substantial role in the development of cardiovascular diseases in patients with type 2 diabetes mellitus (T2DM). Determining the genetic profile of T2DM patients with dyslipidemia is important in order to reduce the risk of microvascular and macrovascular complications. Low-density lipoprotein receptor (LDLR) plays a critical role in plasma lipoprotein hemostasis. LDLR mutations/polymorphisms cause changes at the lipoprotein level. The objective of this study is to determine the frequency of LDLR (rs179989) polymorphisms in Turkish T2DM patients with dyslipidemia...
November 2016: Journal of Clinical Medicine Research
Maria Thomsen, Christian Kersten, Halfdan Sorbye, Eva Skovlund, Bengt Glimelius, Per Pfeiffer, Julia S Johansen, Elin H Kure, Tone Ikdahl, Kjell Magne Tveit, Thoralf Christoffersen, Tormod Kyrre Guren
OBJECTIVES: The aim was to explore the prognostic significance of IL-6 and markers of systemic inflammatory response (SIR), in particular C-reactive protein (CRP), in metastatic colorectal cancer (mCRC) patients, in the total study population and according to RAS and BRAF mutation status. RESULTS: High levels of pretreatment serum IL-6 or CRP were associated with impaired outcome, in terms of reduced PFS and OS. Patients with low versus high serum IL-6 levels had median OS of 26...
October 12, 2016: Oncotarget
Santiago Avila-Ríos, Claudia García-Morales, Margarita Matías-Florentino, Daniela Tapia-Trejo, Bismarck F Hernández-Álvarez, Sumaya E Moreira-López, Carlos J Quant-Durán, Guillermo Porras-Cortés, Gustavo Reyes-Terán
BACKGROUND: Increasing HIV pre-treatment drug resistance (PDR) levels have been observed in regions with increasing antiretroviral treatment (ART) coverage. However, data is lacking for several low/middle-income countries. We present the first PDR survey in Nicaragua since ART introduction in the country in 2003. METHODS: HIV-infected, ART-naïve Nicaraguan individuals were enrolled at Roberto Calderón Hospital, the largest national HIV referral center, from 2011 to 2015...
2016: PloS One
Elisa Schiavi, Marita Gleinser, Evelyn Molloy, David Groeger, Remo Frei, Ruth Ferstl, Noelia Rodriguez-Perez, Mario Ziegler, Ray Grant, Thomas Fintan Moriarty, Stephan Plattner, Selena Healy, Mary O'Connell Motherway, Cezmi A Akdis, Jennifer Roper, Friedrich Altmann, Douwe van Sinderen, Liam O'Mahony
: The immune modulating properties of certain bifidobacterial strains, such as Bifidobacterium longum subsp. longum 35624: ™ (B. longum 35624), have been well described, although the strain-specific molecular characteristics associated with such immune regulatory activity are not well defined. It has previously been demonstrated that B. longum 35624: produces a cell surface exopolysaccharide and in this study we investigated the role played by this exopolysaccharide in influencing the host immune response...
October 7, 2016: Applied and Environmental Microbiology
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