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Yusuf Üstün, Serta Kilincalp, Şahin Çoban, Yusuf Coşkun, İlhami Yüksel, Aydan Ongun, İrfan Soykan, Mehmet Bektaş, Murat Törüner, Hülya Çetinkaya, Necati Örmeci
BACKGROUND The aim of this study was to investigate relationships between early atherosclerosis and inflammatory bowel disease (IBD) using laboratory, functional, and morphological markers of atherosclerosis. MATERIAL AND METHODS In the present prospective single-center study, 96 patients with IBD (58 patients with ulcerative colitis and 36 patients with Crohn's disease) and 65 healthy control subjects were included. The demographic data of each patient and control subject were recorded. The patients with IBD and healthy controls were compared in terms of the carotid intima-media thickness (CIMT), the values of flow-mediated dilatation (FMD) and nitroglycerine-mediated dilatation (NMD), and the levels of von Willebrand factor antigen (VWF-Ag), D-dimer, and lipoprotein (a)...
October 24, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Ghaemeh Nabaei, Shahram Oveisgharan, Askar Ghorbani, Farzad Fatehi
OBJECTIVES: Methamphetamine use is a strong risk factor for stroke. This study was designed to evaluate arterial function and structure in methamphetamine users ultrasonographically. METHODS: In a cross-sectional study, 20 methamphetamine users and 21 controls, aged between 20 and 40years, were enrolled. Common carotid artery intima-media thickness (CCA-IMT) marker of early atherogenesis, flow-mediated dilatation (FMD) determinants of endothelium-dependent vasodilation, and nitroglycerine-mediated dilatation (NMD) independent marker of vasodilation were measured in two groups...
November 15, 2016: Journal of the Neurological Sciences
Evan M Pucillo, Nancy Christensen-Mayer, Shelly D Poole, Denise M Whitten, Danielle Freeman, Blake R Bohe, Brandon R Swensen, A Gordon Smith, Nicholas E Johnson
BACKGROUND: Team-based care has been shown to offer more comprehensive benefits to patients when compared to standard physician-based care alone in clinics for chronic conditions. However, apart from grant-funded multidisciplinary clinics, there are no reports on the usage of same-day physical therapy (PT) consults within a daily outpatient neuromuscular disease (NMD) physician clinic. OBJECTIVE: To determine the impact of same-day PT consults at the University of Utah's outpatient Clinical Neurosciences Center...
2016: Journal of Multidisciplinary Healthcare
A J Mitchell, N L Mills, D E Newby, N L M Cruden
AIMS: To determine the reproducibility of flow-mediated dilation (FMD) and nitrate-mediated dilation (NMD) in the assessment of radial artery vasomotor function, and to examine the effect of transradial catheterisation on radial artery injury and recovery. METHODS: Radial artery FMD and NMD were examined in 20 volunteers and 20 patients on four occasions (two visits at least 24 hours apart, with two assessments at each visit). In a further 10 patients, radial artery FMD was assessed in the catheterised arm prior to, at 24 hours and 3 months following cardiac catheterisation...
2016: Open Heart
Youn Hee Jee, Nadine Sowada, Thomas C Markello, Iraj Rezvani, Guntram Borck, Jeffrey Baron
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age...
October 17, 2016: Clinical Genetics
Karina Vexler, Miryam A Cymerman, Irina Berezin, Adi Fridman, Linoy Golani, Michal Lasnoy, Helen Saul, Orit Shaul
Nonsense-mediated mRNA decay (NMD) is a eukaryotic RNA surveillance mechanism that degrades aberrant transcripts and controls the levels of many normal mRNAs. It was shown that balanced expression of the NMD factor UPF3 is essential for the maintenance of proper NMD homeostasis in Arabidopsis. UPF3 expression is controlled by a negative feedback loop that exposes UPF3 transcript to NMD. It was shown that the long 3' untranslated region (3' UTR) of UPF3 exposes its transcript to NMD. Long 3' UTRs that subject their transcripts to NMD were identified in several eukaryotic NMD factors...
2016: Frontiers in Plant Science
Luca Bello, Kevin M Flanigan, Robert B Weiss, Pietro Spitali, Annemieke Aartsma-Rus, Francesco Muntoni, Irina Zaharieva, Alessandra Ferlini, Eugenio Mercuri, Sylvie Tuffery-Giraud, Mireille Claustres, Volker Straub, Hanns Lochmüller, Andrea Barp, Sara Vianello, Elena Pegoraro, Jaya Punetha, Heather Gordish-Dressman, Mamta Giri, Craig M McDonald, Eric P Hoffman
The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes (SPP1, encoding osteopontin, and LTBP4, encoding latent transforming growth factor β [TGFβ]-binding protein 4) have been established as DMD modifiers...
October 12, 2016: American Journal of Human Genetics
Atsuko Miki, Josephine Galipon, Satoshi Sawai, Toshifumi Inada, Kunihiro Ohta
Antisense RNA has emerged as a crucial regulator of opposite-strand protein-coding genes in the long noncoding RNA (lncRNA) category, but little is known about their dynamics and decay process in the context of a stress response. Antisense transcripts from the fission yeast fbp1 locus (fbp1-as) are expressed in glucose-rich conditions and anticorrelated with transcription of metabolic stress-induced lncRNA (mlonRNA) and mRNA on the sense strand during glucose starvation. Here, we investigate the localization and decay of antisense RNAs at fbp1 and other loci, and propose a model to explain the rapid switch between antisense and sense mlonRNA/mRNA transcription triggered by glucose starvation...
October 10, 2016: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
Maria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, Lúcia Lacerda, Maria João Prata, Sandra Alves
While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β-subunits of the GlcNAc-1-phosphotransferase...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Ying Li, Yeou-Cherng Bor, Mark P Fitzgerald, Kevin S Lee, David Rekosh, Marie-Louise Hammarskjold
The Nxf1 protein is a major nuclear export receptor for the transport of mRNA and it also is essential for export of retroviral mRNAs with retained introns. In the latter case, it binds to RNA elements known as Constitutive Transport Elements (CTEs) and functions in conjunction with a cofactor known as Nxt1. The NXF1 gene also regulates expression of its own intron-containing RNA through the use of a functional CTE within intron 10. mRNA containing this intron is exported to the cytoplasm where it can be translated into the 356 amino acid short Nxf1(sNxf1) protein, despite the fact that it is a prime candidate for nonsense mediated decay (NMD)...
October 5, 2016: Molecular Biology of the Cell
Jeffrey S Mugridge, Marcin Ziemniak, Jacek Jemielity, John D Gross
Removal of the 5' cap on mRNA by the decapping enzyme Dcp2 is a critical step in 5'-to-3' mRNA decay. Understanding the structural basis of Dcp2 activity has been a challenge because Dcp2 is dynamic and has weak affinity for the cap substrate. Here we present a 2.6-Å-resolution crystal structure of a heterotrimer of fission yeast Dcp2, its essential activator Dcp1, and the human NMD cofactor PNRC2, in complex with a tight-binding cap analog. Cap binding is accompanied by a conformational change in Dcp2, thereby forming a composite nucleotide-binding site comprising conserved residues in the catalytic and regulatory domains...
October 3, 2016: Nature Structural & Molecular Biology
Vivienne Travlos, Caroline Bulsara, Shane Patman, Jenny Downs
BACKGROUND: Youth with Neuromuscular Disorders (NMD) who are wheelchair users can now survive well into adulthood if their multisystem comorbidities are prudently managed. Uptake of health behaviors may optimize their health outcomes. OBJECTIVE: To explore youths' perceptions of health, health behaviors and healthcare engagement. METHODS: This qualitative study purposefully recruited 11 youth with NMD from a concurrent, population-based study for variability of age, gender, type of NMD and their ratings of motivation and engagement...
September 27, 2016: NeuroRehabilitation
María Laura Matos, Lara Lapyckyj, Arina Rosso, María José Besso, María Victoria Mencucci, Clara Isabel Marín Briggiler, Silvina Giustina, Laura Inés Furlong, Mónica Hebe Vazquez-Levin
Epithelial Cadherin (E-cadherin) is involved in calcium-dependent cell-cell adhesion and signal transduction. The E-cadherin decrease/loss is a hallmark of Epithelial to Mesenchymal Transition (EMT), a key event in tumor progression. The underlying molecular mechanisms that trigger E-cadherin loss and consequent EMT have not been completely elucidated. This study reports the identification of a novel human E-cadherin variant mRNA produced by alternative splicing. A bioinformatics evaluation of the novel mRNA sequence and biochemical verifications suggest its regulation by Nonsense-Mediated mRNA Decay (NMD)...
September 28, 2016: Journal of Cellular Physiology
Adam Ogna, Julie Nardi, Helene Prigent, Maria-Antonia Quera Salva, Cendrine Chaffaut, Laure Lamothe, Sylvie Chevret, Djillali Annane, David Orlikowski, Frederic Lofaso
BACKGROUND: Restrictive respiratory failure is a major cause of morbidity and mortality in neuromuscular diseases (NMD). Home mechanical ventilation (HMV) is used to treat hypoventilation, and its efficiency is mostly assessed by daytime blood gases or nocturnal oxygen saturation monitoring (SpO2). Non-invasive transcutaneous measure of CO2 (TcCO2) allows to directly assess nocturnal hypercapnia and to detect residual hypoventilation with a higher sensitivity than SpO2. We aimed to compare the prognostic value of nocturnal SpO2 and TcCO2 in ventilated adult NMD patients...
2016: Frontiers in Medicine
Elisa Grana, Sarah Camplan, Stefano Carda
OBJECTIVE: Neuromuscular diseases (NMD) are frequently characterized by a progressive clinical course leading to disability, which has an impact also on the quality of life. To date, there is no evidence if the severity of disability has a real correlation with NMD patients' satisfaction in the activities of daily living (ADL). The aim of our study was to assess if a correlation exists between life satisfaction and disability in patients with NMD. MATERIALS/PATIENTS AND METHODS: We enrolled adult patients with NMD (age>18years) who referred to our unit and who were collaborative to answer to our questionnaires...
September 2016: Annals of Physical and Rehabilitation Medicine
Nadine Pellegrini
OBJECTIVE: To study seated postural control in neuromuscular disorder. MATERIALS/PATIENTS AND METHODS: We conducted a retrospective observational cohort study of 130 neuromuscular adult patients having a positioning wheelchair consultation in Foundation of Garches. The assessment is done with the seated postural control measure for adults. RESULTS: Most of the patients had severe intensity illness, only10% were walking and 29% were with tracheostomial ventilation...
September 2016: Annals of Physical and Rehabilitation Medicine
Antoine Dany, Amandine Rapin, Brice Lavard, Jean-Luc Novella, Damien Jolly, François Constant Boyer
OBJECTIVE: The "quality of life in neuromuscular disease" questionnaire (QoL-NMD) is a new health-related quality of life measurement tool specifically designed for patients with a slowly-progressive neuromuscular disease with motor deficiency. The QoL-NMD is structured into 3 domains: "impact of physical symptoms", "self-perception" and "activities and social participation". Our objective is to estimate conditional minimum detectable changes (cMDCs). The cMDCs help determine if a measure change reflects a change of patient's status over time or a measurement error...
September 2016: Annals of Physical and Rehabilitation Medicine
Kensuke Ninomiya, Mutsuhito Ohno, Naoyuki Kataoka
Localization of mRNA in neuronal cells is a critical process for spatiotemporal regulation of gene expression. Cytoplasmic localization of mRNA is often conferred by transport elements in 3' untranslated region (UTR). Activity-regulated cytoskeleton-associated protein (arc) mRNA is one of the localizing mRNAs in neuronal cells, and its localization is mediated by dendritic targeting element (DTE). As arc mRNA has introns in its 3' UTR, it was thought that arc mRNA is a natural target of nonsense-mediated mRNA decay (NMD)...
September 23, 2016: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
Yong-Jin Park, Seog-Ki Lee, Seong-Ho Kang, Sook-Jin Jang, Dae-Soo Moon, Geon Park
A novel FLCN c.1489_1490delTG (p.Val497Glyfs*22) mutation at the genomic DNA and mRNA levels was identified in a 43-year-old woman with complaining of recurrent primary spontaneous pneumothorax. The aberrant FLCN mRNA escaped the nonsense-mediated decay system (NMD) because of a premature termination code located in an NMD-incompetent region. To the best of our knowledge, this is the first case report of an FLCN mutation escaping the NMD.
September 2016: Annals of Clinical and Laboratory Science
Morteza Safi, Mohammad Parsa Mahjoob, Saeed Nateghi, Isa Khaheshi, Mohammad Ali Akbarzadeh, Mohammadreza Naderian
BACKGROUND: The recent studies have confirmed the essential and paramount role of the L-Citrulline on the nitric oxide regulation and the endothelial function improvement. METHODS: In this cross-over clinical trial, thirty patients, diagnosed with coronary artery disease (CAD) and flow mediated dilation to nitroglycerin dependent vasodilation (FMD/NMD) ratio less than 1, were included. The patients were randomly divided in two groups of 15 patients and underwent treatment by L-Citrulline or placebo for 15 days, in 2 step protocol...
September 18, 2016: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
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