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https://www.readbyqxmd.com/read/28087715/sf3b1-hsh155-heat-motif-mutations-affect-interaction-with-the-spliceosomal-atpase-prp5-resulting-in-altered-branch-site-selectivity-in-pre-mrna-splicing
#1
Qing Tang, Susana Rodriguez-Santiago, Jing Wang, Jia Pu, Andrea Yuste, Varun Gupta, Alberto Moldón, Yong-Zhen Xu, Charles C Query
Mutations in the U2 snRNP component SF3B1 are prominent in myelodysplastic syndromes (MDSs) and other cancers and have been shown recently to alter branch site (BS) or 3' splice site selection in splicing. However, the molecular mechanism of altered splicing is not known. We show here that hsh155 mutant alleles in Saccharomyces cerevisiae, counterparts of SF3B1 mutations frequently found in cancers, specifically change splicing of suboptimal BS pre-mRNA substrates. We found that Hsh155p interacts directly with Prp5p, the first ATPase that acts during spliceosome assembly, and localized the interacting regions to HEAT (Huntingtin, EF3, PP2A, and TOR1) motifs in SF3B1 associated with disease mutations...
December 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/28087410/repair-of-8-oxog-a-mismatches-by-the-mutyh-glycosylase-mechanism-metals-medicine
#2
REVIEW
Douglas M Banda, Nicole N Nuñez, Michael A Burnside, Katie M Bradshaw, Sheila S David
Reactive oxygen and nitrogen species (RONS) may infringe on the passing of pristine genetic information by inducing DNA inter- and intra-strand crosslinks, protein-DNA crosslinks, and chemical alterations to the sugar or base moieties of DNA. 8-Oxo-7,8-dihydroguanine (8-oxoG) is one of the most prevalent DNA lesions formed by RONS and is repaired through the base excision repair (BER) pathway involving the DNA repair glycosylases OGG1 and MUTYH in eukaryotes. MUTYH removes adenine (A) from 8-oxoG:A mispairs, thus mitigating the potential of G:C to T:A transversion mutations from occurring in the genome...
January 10, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28087213/cholesterolomics-an-update
#3
William J Griffiths, Jonas Abdel-Khalik, Eylan Yutuc, Alwena H Morgan, Ian Gilmore, Thomas Hearn, Yuqin Wang
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample. These molecules include 1,25-dihydroxyvitamin D3, steroid hormones and bile acids and intermediates in their respective biosynthetic pathways. In this short article we will concentrate our attention on intermediates in bile acid biosynthesis pathways, in particular oxysterols and cholestenoic acids. These molecular classes are implicated in the aetiology of a diverse array of diseases including autoimmune disease, Parkinson's disease, motor neuron disease, breast cancer, the lysosomal storage disease Niemann-Pick type C and the autosomal recessive disorder Smith-Lemli-Opitz syndrome...
January 10, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28086850/the-prevalence-trend-of-metabolic-syndrome-and-its-components-and-risk-factors-in-korean-adults-results-from-the-korean-national-health-and-nutrition-examination-survey-2008-2013
#4
Binh Thang Tran, Bo Yoon Jeong, Jin-Kyoung Oh
BACKGROUND: Abnormalities in the clinical markers of metabolic syndrome (MS) are associated with the development of cardiovascular disease, type 2 diabetes mellitus, and some cancers. MS prevalence in Korea increased between the mid-1990s and mid-2000s; however, no data on the recent trends of MS prevalence are available. Thus, we aimed to investigate the prevalence of MS, the five components of MS, and the related risk factors in Korean adults by using recent data. METHODS: Data from the Korean National Health and Nutrition Examination Survey conducted between 2008 and 2013 were used...
January 13, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28079806/the-relationship-of-nonalcoholic-fatty-liver-disease-and-metabolic-syndrome-for-colonoscopy-colorectal-neoplasm
#5
Shuang Pan, Wandong Hong, Wenzhi Wu, Qinfen Chen, Qian Zhao, Jiansheng Wu, Yin Jin
Colorectal neoplasm is considered to have a strong association with nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome (MetS), respectively. The relationship among NAFLD, MetS, and colorectal neoplasm was assessed in 1793 participants. Participants were divided into 4 groups based on the status of NAFLD and MetS. Relative excess risks of interaction (RERI), attributable proportion (AP), and synergy index (SI) were applied to evaluate the additive interaction. NAFLD and MetS were significantly correlated with colorectal neoplasm and colorectal cancer (CRC), respectively...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079733/-a-tale-of-two-planes-deep-versus-superficial-serratus-plane-block-for-postmastectomy-pain-syndrome
#6
Mohammad M Piracha, Stephen L Thorp, Vinay Puttanniah, Amitabh Gulati
INTRODUCTION: Postmastectomy pain syndrome (PMPS) is a significant burden for breast cancer survivors. Although multiple therapies have been described, an evolving field of serratus anterior plane blocks has been described in this population. We describe the addition of the deep serratus anterior plane block (DSPB) for PMPS. METHODS: Four patients with history of PMPS underwent DSPB for anterior chest wall pain. A retrospective review of these patients' outcomes was obtained through postprocedure interviews...
January 10, 2017: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/28078540/preplanned-safety-analysis-of-the-jfmc37-0801-trial-a-randomized-phase-iii-study-of-six-months-versus-twelve-months-of-capecitabine-as-adjuvant-chemotherapy-for-stage-iii-colon-cancer
#7
Takeshi Suto, Megumi Ishiguro, Chikuma Hamada, Katsuyuki Kunieda, Hiroyuki Masuko, Ken Kondo, Hideyuki Ishida, Genichi Nishimura, Kazuaki Sasaki, Takayuki Morita, Shoichi Hazama, Koutarou Maeda, Hideyuki Mishima, Hideyuki Ike, Sotaro Sadahiro, Kenichi Sugihara, Masazumi Okajima, Shigetoyo Saji, Junichi Sakamoto, Naohiro Tomita
BACKGROUND: Six months of adjuvant chemotherapy is regarded as the standard of care for patients with stage III colon cancer. However, whether longer treatment can improve prognosis has not been fully investigated. We conducted a phase III study comparing 6 and 12 months of adjuvant capecitabine chemotherapy for stage III colon cancer, and report here the results of our preplanned safety analysis. METHODS: Patients aged 20-79 years with curatively resected stage III colon cancer were randomly assigned to receive 8 cycles (6 months) or 16 cycles (12 months) of capecitabine (2500 mg/m(2)/day on days 1-14 of each 21-day cycle)...
January 11, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28078458/superiority-of-laparoscopic-proximal-gastrectomy-with-hand-sewn-esophagogastrostomy-over-total-gastrectomy-in-improving-postoperative-body-weight-loss-and-quality-of-life
#8
Tatsuto Nishigori, Hiroshi Okabe, Shigeru Tsunoda, Hisashi Shinohara, Kazutaka Obama, Hisahiro Hosogi, Shigeo Hisamori, Kikuko Miyazaki, Takeo Nakayama, Yoshiharu Sakai
BACKGROUND: Proximal gastrectomy is not widely performed because the procedure is complicated, particularly under laparoscopy. We developed a simple laparoscopic technique of hand-sewn esophagogastrostomy with an anti-reflux mechanism. This study aimed to evaluate and compare the postoperative body weight loss (BWL) and quality of life (QOL) following laparoscopic proximal gastrectomy (LPG) and laparoscopic total gastrectomy (LTG) in patients with upper gastric cancer. METHODS: We retrospectively analyzed patients with stage I upper gastric cancer undergoing LPG or LTG at Kyoto University Hospital between March 2006 and June 2014...
January 11, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28078065/clinical-features-of-neuromuscular-disorders-in-patients-with-n-type-voltage-gated-calcium-channel-antibodies
#9
Andreas Totzeck, Petra Mummel, Oliver Kastrup, Tim Hagenacker
Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative...
September 15, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/28077318/alcohol-microbiome-life-style-influence-alcohol-and-non-alcoholic-organ-damage
#10
REVIEW
Manuela G Neuman, Samuel W French, Samir Zakhari, Stefen Malnick, Helmut K Seitz, Lawrence B Cohen, Mikko Salaspuro, Andreea Voinea Griffin, Andrei Barasch, Irina A Kirpich, Paul G Thomes, Laura W Schrum, Terrence M Donohue, Kusum Kharbanda, Marcus Cruz, Mihai Opris
This paper is based upon the "8th Charles Lieber's Satellite Symposium" organized by Manuela G. Neuman at the Research Society on Alcoholism Annual Meeting, onJune 25, 2016 at New Orleans, Louisiana, USA. The integrative symposium investigated different aspects of alcohol-induced liver disease (ALD) as well as non-alcohol-induced liver disease (NAFLD) and possible repair. We revealedthe basic aspects of alcohol metabolism that may be responsible for the development of liver diseaseas well as the factors that determine the amount, frequency and which type of alcohol misuse leads to liver and gastrointestinal diseases...
January 7, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28077238/patterns-of-care-and-clinical-outcomes-in-patients-with-metastatic-renal-cell-carcinoma-results-from-a-tertiary-cancer-center-in-india
#11
Anant Ramaswamy, Amit Joshi, Vanita Noronha, Vijay M Patil, Rushabh Kothari, Arvind Sahu, Ram Abhinav Kannan, Nilesh Sable, Palak Popat, Santosh Menon, Kumar Prabhash
INTRODUCTION: The current treatment of metastatic renal cell carcinoma (mRCC) revolves around targeted agents, which have resulted in a median overall survival of 22 to 26 months in registration trials. However, the outcomes in a non-trial, real-world Indian population have not yet been evaluated. MATERIALS AND METHODS: The present study was a part of a prospective Clinical Trials Registry-India-registered study, the Kidney Cancer Registry, a prospectively maintained kidney cancer registry...
October 19, 2016: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28074289/anamorelin-for-cancer-anorexia-cachexia-syndrome-a-systematic-review-and-meta-analysis
#12
REVIEW
Yu Bai, Yunxia Hu, Yanhua Zhao, Xizhong Yu, Junwei Xu, Zhiyun Hua, Zhiqiang Zhao
PURPOSE: The aim of this study was to evaluate the therapeutic effects of Anamorelin on patients with cancer anorexia-cachexia syndrome (CACS) based on a meta-analysis of published randomized trials. METHODS: We searched PubMed, Embase, Medline, and the Cochrane Central Register of Controlled Trials databases. Data from each selected study were evaluated individually. All continuous outcomes were calculated by the mean difference or standardized mean difference with 95% confidence interval for each study...
January 10, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28073935/brain-structure-and-function-associated-with-younger-adults-in-growth-hormone-receptor-deficient-humans
#13
Kaoru Nashiro, Jaime Guevara-Aguirre, Meredith N Braskie, George W Hafzalla, Rico Velasco, Priya Balasubramian, Min Wei, Paul M Thompson, Mara Mather, Marvin D Nelson, Alexandra Guevara, Enrique Teran, Valter D Longo
: Growth hormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low circulating levels of insulin and insulin-like growth factor 1 (IGF-1). Previous studies in mice and humans suggested that GHRD has protective effects against age-related diseases, including cancer and diabetes. Whereas GHRD mice show improved age-dependent cognitive performance, the effect of GHRD on human cognition remains unknown. Using magnetic resonance imaging (MRI), we compared brain structure, function, and connectivity between 13 people with GHRD and 12 unaffected relatives...
January 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28073417/-a-case-of-budd-chiari-syndrome-misdiagnosed-as-liver-cancer
#14
J J Wang, X Ren, H Wang
No abstract text is available yet for this article.
December 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28070798/does-vitamin-d-play-a-role-in-autoimmune-endocrine-disorders-a-proof-of-concept
#15
REVIEW
Barbara Altieri, Giovanna Muscogiuri, Luigi Barrea, Chantal Mathieu, Carla V Vallone, Luca Mascitelli, Giorgia Bizzaro, Vincenzo M Altieri, Giacomo Tirabassi, Giancarlo Balercia, Silvia Savastano, Nicola Bizzaro, Cristina L Ronchi, Annamaria Colao, Alfredo Pontecorvi, Silvia Della Casa
In the last few years, more attention has been given to the "non-calcemic" effect of vitamin D. Several observational studies and meta-analyses demonstrated an association between circulating levels of vitamin D and outcome of many common diseases, including endocrine diseases, chronic diseases, cancer progression, and autoimmune diseases. In particular, cells of the immune system (B cells, T cells, and antigen presenting cells), due to the expression of 1α-hydroxylase (CYP27B1), are able to synthesize the active metabolite of vitamin D, which shows immunomodulatory properties...
January 9, 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28070225/how-does-genetic-risk-information-for-lynch-syndrome-translate-to-risk-management-behaviours
#16
Emma Steel, Andrew Robbins, Mark Jenkins, Louisa Flander, Clara Gaff, Louise Keogh
BACKGROUND: There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lynch syndrome non-carriers and carriers translate genetic risk information and advice to decisions about risk managment behaviours in the Australian healthcare system. METHODS: Participants of the Australasian Colorectal Cancer Family Registry who had undergone predictive genetic testing for Lynch syndrome were interviewed on their risk management behaviours...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28069055/novel-germline-mutations-in-flcn-gene-identified-in-two-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#17
Teng Li, Xianghui Ning, Qun He, Kan Gong
Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations (c...
January 9, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28068933/screening-for-onconeural-antibodies-in-neuromyelitis-optica-spectrum-disorders
#18
Benjamin Berger, Tilman Hottenrott, Sebastian Rauer, Oliver Stich
BACKGROUND: Some so-called "non-classical" paraneoplastic neurological syndromes (PNS), namely optic neuritis and myelitis, clinically overlap with neuromyelitis optica spectrum disorders (NMOSD), and conversely, in cancer-associated NMOSD, a paraneoplastic etiology has been suggested in rare cases. Therefore, we retrospectively investigated the prevalence of onconeural antibodies, which are highly predictive for a paraneoplastic etiology, and the prevalence of malignancies in NMOSD patients...
January 10, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28068221/devilish-effects-of-taz-in-nonalcoholic-steatohepatitis
#19
Scott L Friedman, Youngmin A Lee
Nonalcoholic steatohepatitis leads to cirrhosis and cancer in a rising number of patients with metabolic syndrome. In this issue of Cell Metabolism, Wang et al. (2016) identify the transcriptional co-activator Taz as a driver of inflammation and fibrosis through the induction of Indian hedgehog in hepatocytes, which stimulates fibrogenesis by hepatic stellate cells.
December 13, 2016: Cell Metabolism
https://www.readbyqxmd.com/read/28067588/health-benefits-of-fiber-fermentation
#20
Wendy J Dahl, Nicole C Agro, Åsa M Eliasson, Kaley L Mialki, Joseph D Olivera, Carley T Rusch, Carly N Young
Although fiber is well recognized for its effect on laxation, increasing evidence supports the role of fiber in the prevention and treatment of chronic disease. The aim of this review is to provide an overview of the health benefits of fiber and its fermentation, and describe how the products of fermentation may influence disease risk and treatment. Higher fiber intakes are associated with decreased risk of cardiovascular disease, type 2 diabetes, and some forms of cancer. Fiber may also have a role in lowering blood pressure and in preventing obesity by limiting weight gain...
January 9, 2017: Journal of the American College of Nutrition
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