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https://www.readbyqxmd.com/read/28746835/genetic-ataxia-telangiectasia-porcine-model-phenocopies-the-multisystemic-features-of-the-human-disease
#1
Rosanna Beraldi, David K Meyerholz, Alexei Savinov, Attila D Kovács, Jill M Weimer, Jordan A Dykstra, Ryan D Geraets, David A Pearce
Ataxia telangiectasia (AT) is a progressive multisystem autosomal recessive disorder caused by mutations in the AT-mutated (ATM) gene. Early onset AT in children is characterized by cerebellar degeneration, leading to motor impairment. Lung disease and cancer are the two most common causes of death in AT patients. Accelerated thymic involution may contribute to the cancer, and recurrent and/or chronic respiratory infections may be a contributing factor to lung disease in AT. AT patients have fertility issues, are highly sensitive to ionizing radiation and they present oculocutaneous telangiectasia...
July 23, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28746384/detection-of-brain-directed-autoantibodies-in-the-serum-of-non-small-cell-lung-cancer-patients
#2
Manoj Banjara, Chaitali Ghosh, Aaron Dadas, Peter Mazzone, Damir Janigro
Antibodies against brain proteins were identified in the plasma of cancer patients and are defined to cause paraneoplastic neurological syndromes. The profiles of brain-directed antibodies in non-small cell lung cancer (NSCLC) are largely unknown. Here, for the first time, we compared autoantibodies against brain proteins in NSCLC (n = 18) against those present in age-matched non-cancer control subjects (n = 18) with a similar life-style, habit, and medical history. Self-recognizing immunoglobulin (IgG) are primarily directed against cells in the cortex (P = 0...
2017: PloS One
https://www.readbyqxmd.com/read/28743674/the-role-of-alternative-splicing-coupled-to-nonsense-mediated-mrna-decay-in-human-disease
#3
Paulo J da Costa, Juliane Menezes, Luísa Romão
Alternative pre-mRNA splicing (AS) affects gene expression as it generates proteome diversity. Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that recognizes and selectively degrades mRNAs carrying premature translation-termination codons (PTCs), preventing the production of truncated proteins that could result in disease. Several studies have also implicated NMD in the regulation of steady-state levels of physiological mRNAs. In addition, it is known that several regulated AS events do not lead to generation of protein products, as they lead to transcripts that carry PTCs and thus, they are committed to NMD...
July 22, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28742648/vitamin-d-deficiency-supplementation-and-cardiovascular-health
#4
Naveen Trehan, Luis Afonso, Diane L Levine, Phillip D Levy
Vitamin D has been traditionally recognized as a vitamin quintessential for bone-mineral health. In the past 2 decades, numerous experimental and observational studies have highlighted the role of vitamin D in immunity, metabolic syndrome (obesity and diabetes), cancers, renal disease, memory, and neurological dysfunction. In this article, we review important studies that focused on the impact of vitamin D on blood pressure, myocardial infarction, peripheral arterial disease, heart failure, and statin intolerance...
September 2017: Critical Pathways in Cardiology
https://www.readbyqxmd.com/read/28734793/hardware-failure-in-patients-with-metastatic-cancer-to-the-spine
#5
Rachel Pedreira, Nancy Abu-Bonsrah, A Karim Ahmed, Rafael De la Garza-Ramos, C Rory Goodwin, Ziya L Gokaslan, Justin Sacks, Daniel M Sciubba
BACKGROUND: The spine is the most common site of skeletal metastases, affecting approximately 30% of individuals with cancer. The aim of surgical treatment for metastatic spine disease is generally palliative to address pain and/or neurologic compromise, significantly improving patients' quality of life. Patients with metastatic spine disease, however, represent a vulnerable cohort and may have comorbidities or previous treatments that impair the structural integrity of spinal hardware...
July 19, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28733904/polyamines-therapeutic-perspectives-in-oxidative-stress-and-inflammatory-diseases
#6
REVIEW
Tarique Hussain, Bie Tan, Wenkai Ren, Najma Rahu, Rahim Dad, Dildar Hussain Kalhoro, Yulong Yin
Polyamines are naturally occurring aliphatic compounds, particularly essential elements for biological functions. These compounds play a central role in regulating molecular pathways which are responsible for cellular proliferation, growth, and differentiation. Importantly, excessive polyamine catabolism can lead to a prominent source of oxidative stress which increases inflammatory response and thought to be involved in several diseases including stroke, renal failure, neurological disease, liver disease, and even cancer...
July 21, 2017: Amino Acids
https://www.readbyqxmd.com/read/28731489/sexual-health-adherence-to-mediterranean-diet-body-weight-physical-activity-and-mental-state-factors-correlated-to-each-other
#7
Pier A Della Camera, Simone Morselli, Gianmartin Cito, Giovanni Tasso, Andrea Cocci, Nicola Laruccia, Fabrizio Travaglini, Dario Del Fabbro, Antonio R Mottola, Mauro Gacci, Sergio Serni, Marco Carini, Alessandro Natali
INTRODUCTION: Mediterranean diet has shown a protective role against cardiovascular disease, diabetes, cancer onset, microvascular damage and dementia in many trials. Our purpose is the assessment of a correlation between physical activity, Mediterranean diet, body mass index (BMI), depression and erection disorder (ED). METHODS: After having signed disclaimer to the study participation, we administered the IIEF 15 questionnaire (International Index of Erectil Function), the Hamilton questionnaire for major depression, the Med-Diet Questionnaire, the Ipaq Questionnaire (International Index of Physical Activity) to 245 patients and calculated the BMI...
July 14, 2017: Urologia
https://www.readbyqxmd.com/read/28731294/the-bioinorganic-chemistry-of-lead-in-the-context-of-its-toxicity
#8
Wolfgang Maret
Owing to its abundance on earth and its multiple uses by humans, lead (Pb) is a major toxicant that has threatened human health for millennia and continues to do so. There is no safe level of exposure, necessitating a nuanced approach to its control in the food we consume, the water we drink, and the air we breathe. Turnover in soft tissues is within days. In contrast, lead accumulates in bone and turns over with a half-life of about 30 years, though it can be mobilized from bone under physiological and pathophysiological conditions of bone resorption...
April 10, 2017: Metal Ions in Life Sciences
https://www.readbyqxmd.com/read/28724303/direct-percutaneous-endoscopic-jejunostomy-using-single-balloon-enteroscopy-without-fluoroscopy-a-case-series
#9
Carlos Bernardes, Rolando Pinho, Adélia Rodrigues, Luísa Proença, João Carvalho
BACKGROUND: Direct percutaneous endoscopic jejunostomy (DPEJ) is a useful method to provide enteral nutrition to individuals when gastric feeding is not possible or contraindicated. The aim of this study was to analyze the efficacy and safety of DPEJ tube placement with the Gauderer-Ponsky technique by the pull method, using single-balloon enteroscopy (SBE) without fluoroscopy. METHODS: This is a retrospective analysis of patients undergoing SBE for DPEJ placement in a referral hospital between January 2010 and March 2016...
July 14, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28723212/engineering-recombinant-protein-sensors-for-quantifying-histone-acetylation
#10
Oscar F Sanchez, Agnes Mendonca, Ana D Carneiro, Chongli Yuan
H3K14ac (acetylation of lysine 14 of histone H3) is one of the most important epigentic modifications. Aberrant changes in H3K14ac have been associated with various diseases, including cancers and neurological disorders. Tools that enable detection and quantification of H3K14ac levels in cell extracts and in situ are thus of critical importance to reveal its role in various biological processes. Current detection techniques of specific histone modifications, however, are constrained by tedious sample pretreatments, lack of quantitative accuracy, and reliance on high quality antibodies...
March 24, 2017: ACS Sensors
https://www.readbyqxmd.com/read/28721656/circrna-a-novel-type-of-biomarker-for-cancer
#11
REVIEW
He-da Zhang, Lin-Hong Jiang, Da-Wei Sun, Jun-Chen Hou, Zhen-Ling Ji
Circular RNAs (circRNAs) are a class of long, non-coding RNAs molecules that shape a covalently closed continuous loop which have no 5'-3' polarity and contain no polyA tail. CircRNAs also possess relatively jarless framework and are highly tissue-specific expressed in the eukaryotic transcriptome. Emerging evidences have discovered that thousands of endogenous circRNAs are present in mammalian cells and they mediate gene expression at the transcriptional or post-transcriptional level by binding to microRNAs or other molecules and then inhibit their function...
July 18, 2017: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/28720769/concentration-dependent-binding-of-small-ligands-to-multiple-saturable-sites-in-membrane-proteins
#12
Letícia Stock, Juliana Hosoume, Werner Treptow
Membrane proteins are primary targets for most therapeutic indications in cancer and neurological diseases, binding over 50% of all known small molecule drugs. Understanding how such ligands impact membrane proteins requires knowledge on the molecular structure of ligand binding, a reasoning that has driven relentless efforts in drug discovery and translational research. Binding of small ligands appears however highly complex involving interaction to multiple transmembrane protein sites featuring single or multiple occupancy states...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28717417/analysis-of-extracellular-rna-in-cerebrospinal-fluid
#13
Julie A Saugstad, Theresa A Lusardi, Kendall R Van Keuren-Jensen, Jay I Phillips, Babett Lind, Christina A Harrington, Trevor J McFarland, Amanda L Courtright, Rebecca A Reiman, Ashish S Yeri, M Yashar S Kalani, P David Adelson, Jorge Arango, John P Nolan, Erika Duggan, Karen Messer, Johnny C Akers, Douglas R Galasko, Joseph F Quinn, Bob S Carter, Fred H Hochberg
We examined the extracellular vesicle (EV) and RNA composition of pooled normal cerebrospinal fluid (CSF) samples and CSF from five major neurological disorders: Alzheimer's disease (AD), Parkinson's disease (PD), low-grade glioma (LGG), glioblastoma multiforme (GBM), and subarachnoid haemorrhage (SAH), representing neurodegenerative disease, cancer, and severe acute brain injury. We evaluated: (I) size and quantity of EVs by nanoparticle tracking analysis (NTA) and vesicle flow cytometry (VFC), (II) RNA yield and purity using four RNA isolation kits, (III) replication of RNA yields within and between laboratories, and (IV) composition of total and EV RNAs by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and RNA sequencing (RNASeq)...
2017: Journal of Extracellular Vesicles
https://www.readbyqxmd.com/read/28716651/significance-of-a-to-i-rna-editing-of-transcripts-modulating-pharmacokinetics-and-pharmacodynamics
#14
REVIEW
Masataka Nakano, Miki Nakajima
RNA editing is a post-transcriptional process that alters the nucleotide sequence of RNA transcripts to generate transcriptome diversity. Among the various types of RNA editing, adenosine-to-inosine (A-to-I) RNA editing is the most frequent type of RNA editing in mammals. Adenosine deaminases acting on RNA (ADAR) enzymes, ADAR1 and ADAR2, convert adenosines in double-stranded RNA structures into inosines by hydrolytic deamination. Inosine forms a base pair with cytidine as if it were guanosine; therefore, the conversion may affect the amino acid sequence, splicing, microRNA targeting, and miRNA maturation...
July 15, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28713049/patient-reported-outcomes-after-surgical-stabilization-of-spinal-tumors-symptom-based-validation-of-the-spinal-instability-neoplastic-score-sins-and-surgery
#15
Ibrahim Hussain, Ori Barzilai, Anne S Reiner, Natalie DiStefano, Lily McLaughlin, Shahiba Ogilvie, Mark Bilsky, Ilya Laufer
BACKGROUND CONTEXT: Neoplastic spinal instability is movement-related pain or neurologic compromise under physiologic loads with the Spinal Instability Neoplastic Score (SINS) developed to facilitate diagnosis. There is a paucity of evidence that mechanical instability correlates with patient-reported symptoms and that surgical stabilization significantly improves these patient-reported outcomes (PRO). PURPOSE: The objective of this study was to determine if SINS correlates with patient-reported preoperative pain and disability and if surgical stabilization significantly improves PRO...
July 13, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28712719/ages-rages-and-s-rage-friend-or-foe-for-cancer
#16
REVIEW
Saheem Ahmad, Hamda Khan, Zeba Siddiqui, Mohd Yasir Khan, Shahnawaz Rehman, Uzma Shahab, Tatyana Godovikova, Vladimir Silnikov, Moinuddin
Impaired awareness of glycation biology in cancer initiation and progression is one of the fundamental reasons for its meticulous investigation of the molecules involved in signalling pathway. Glycation of biological macromolecules results in the progression of advanced glycation end-products (AGEs) that proliferates the process of carcinogenesis by activation of transcription factors and release of cytokines. The receptor for advanced glycation end-products (RAGEs) with the binding of its different ligands like; AGEs, HMGB1 and S100 activate the signalling arrays...
July 13, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28711294/clinical-management-and-survival-of-patients-with-central-nervous-system-hemangiopericytoma-in-the-national-cancer-database
#17
Daniel M Trifiletti, Gautam U Mehta, Surbhi Grover, Jason P Sheehan
PURPOSE/OBJECTIVES: Hemangiopericytomas are rare central nervous system (CNS) tumors. We sought to investigate existing clinical management strategies and overall survival (OS) among patients with hemangiopericytomas of the CNS. METHODS/MATERIALS: All patients diagnosed with CNS hemangiopericytoma from 2004 to 2014 in the National Cancer Database were included. Clinical and treatment-related characteristics were analyzed for an association with OS following diagnosis using univariable and multivariable analyses...
July 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28711275/chemotherapy-induced-stroke-mimic-5-fluorouracil-encephalopathy-fulfilling-criteria-for-tissue-plasminogen-activator-therapy
#18
May Thuy Nguyen, Robyn Stoianovici, Luigi Brunetti
Stroke mimics, especially those involving chemotherapy related neurotoxicity, can confound the clinical diagnosis of acute stroke. Here we describe the case of a 63year-old male with a recent history of stage IIIC colon cancer who presented with confusion on the second day of modified FOLFOX6 (5-fluorouracil/oxaliplatin) chemotherapy and subsequently received alteplase, tissue plasminogen activator therapy (tPA), for presumed ischemic stroke. Magnetic resonance imaging scans after tPA administration did not reveal evidence of an infarction and the patients' neurological symptoms resolved completely after discontinuation of 5-fluorouracil (5-FU)...
July 6, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28710195/marantic-endocarditis-and-paraneoplastic-pulmonary-embolism
#19
Tiago Lobo Ferreira, Rosa Alves, Tiago Judas, Maria F Delerue
Cancer is frequently associated with a hypercoagulable state. Almost 15% of patients with cancer will suffer a thromboembolic event during their clinical course. The aetiology of this hypercoagulable state is multifactorial and includes procoagulant factors associated with malignancy as well as the host's inflammatory response. Cancer-associated thrombophilia can present as venous thromboembolism, migratory superficial thrombophlebitis, arterial thrombosis, disseminated intravascular coagulation, thrombotic microangiopathy and rarely non-bacterial thrombotic endocarditis (NBTE)...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28709170/-leptomeningeal-carcinomatosis-as-a-rare-metastatic-spreading-of-braf-mutated-microsatellite-stable-colon%C3%A2-cancer
#20
Aksana Höblinger, Stephanie Weber, Florian Tschirner, Stefan Kröber, Konrad Streetz
Leptomeningeal carcinomatosis is a rare but serious complication of solid tumors such as melanoma, breast and lung cancer, as well as gastrointestinal carcinomas. Its clinical manifestation is highly variable, presenting as radicular pain with or without neurological deficits, as well as with headaches and hallucinatory irritation symptoms. Leptomeningeal carcinomatosis is often misdiagnosed, which delays treatment. Here we report a rare case of a patient with BRAF-mutated microsatellite stable colon carcinoma with lymphatic and skeletal metastases, who developed neurological symptoms one month after the initial diagnosis of malignancy...
July 2017: Zeitschrift Für Gastroenterologie
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