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https://www.readbyqxmd.com/read/28679849/mendelian-genes-and-risk-of-intracerebral-hemorrhage-and-small-vessel-ischemic-stroke-in-sporadic-cases
#1
Michael Chong, Martin O'Donnell, Vincent Thijs, Antonio Dans, Patricio López-Jaramillo, Diego Gómez-Arbeláez, Charles Mondo, Anna Czlonkowska, Marta Skowronska, Shahram Oveisgharan, Salim Yusuf, Guillaume Paré
BACKGROUND AND PURPOSE: Mendelian strokes are rare genetic disorders characterized by early-onset small-vessel stroke. Although extensively studied among families with syndromic features, whether these genes affect risk among sporadic cases is unknown. METHODS: We sequenced 8 genes responsible for Mendelian stroke in a case-control study of sporadic stroke cases (≤70 years). Participants included 1251 primary stroke cases of small-vessel pathology (637 intracerebral hemorrhage and 614 small-vessel ischemic stroke cases) and 1716 controls from the INTERSTROKE study (Study of the Importance of Conventional and Emerging Risk Factors of Stroke in Different Regions and Ethnic Groups of the World)...
July 5, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28631776/-panoramica-sui-risultati-degli-studi-pre-clinici-sugli-effetti-dell-epigallocatechina-gallato-la-pi%C3%A3-abbondante-catechina-presente-nel-t%C3%A3-verde-nel-trattamento-del-cancro-al-pancreas
#2
Sabrina Bimonte, Marco Cascella, Maddalena Leongito, Raffaele Palaia, Domenico Caliendo, Francesco Izzo, Arturo Cuomo
Riassunto. Il tumore del pancreas è una delle principali cause di mortalità e morbilità in tutto il mondo. Nonostante la resezione chirurgica rimanga il trattamento elettivo per questa malattia, solo una minoranza dei pazienti è candidata a intervento chirurgico, in quanto la diagnosi è molto spesso tardiva. Recentemente, nuovi schemi di chemioterapia con la combinazione di diversi farmaci, come il FOLFIRINOX (5-FU, leucovorina, irinotecan, and oxaliplatino), hanno mostrato di migliorare la sopravvivenza libera da progressione di malattia...
June 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28555641/a-parts-list-for-fungal-cellulosomes-revealed-by-comparative-genomics
#3
Charles H Haitjema, Sean P Gilmore, John K Henske, Kevin V Solomon, Randall de Groot, Alan Kuo, Stephen J Mondo, Asaf A Salamov, Kurt LaButti, Zhiying Zhao, Jennifer Chiniquy, Kerrie Barry, Heather M Brewer, Samuel O Purvine, Aaron T Wright, Matthieu Hainaut, Brigitte Boxma, Theo van Alen, Johannes H P Hackstein, Bernard Henrissat, Scott E Baker, Igor V Grigoriev, Michelle A O'Malley
Cellulosomes are large, multiprotein complexes that tether plant biomass-degrading enzymes together for improved hydrolysis(1). These complexes were first described in anaerobic bacteria, where species-specific dockerin domains mediate the assembly of enzymes onto cohesin motifs interspersed within protein scaffolds(1). The versatile protein assembly mechanism conferred by the bacterial cohesin-dockerin interaction is now a standard design principle for synthetic biology(2,3). For decades, analogous structures have been reported in anaerobic fungi, which are known to assemble by sequence-divergent non-catalytic dockerin domains (NCDDs)(4)...
May 30, 2017: Nature Microbiology
https://www.readbyqxmd.com/read/28514783/dialysis-access-as-an-area-of-improvement-in-elderly-incident-hemodialysis-patients-results-from-a-cohort-study-from-the-international-monitoring-dialysis-outcomes-initiative
#4
Jochen G Raimann, Claudia Barth, Len A Usvyat, Priscila Preciado, Bernard Canaud, Michael Etter, Xiaoqi Xu, Adrian Guinsburg, Christina Marelli, Neill Duncan, Albert Power, Frank M van der Sande, Jeroen P Kooman, Stephan Thijssen, Yuedong Wang, Peter Kotanko
BACKGROUND: Commencing hemodialysis (HD) using a catheter is associated with a higher risk of adverse outcomes, and early conversion from central-venous catheter (CVC) to arteriovenous fistula/graft (non-CVC) improves outcomes. We investigated CVC prevalence and conversion, and their effects on outcomes during the first year of HD in a multinational cohort of elderly patients. METHODS: Patients ≥70 years from the MONDO Initiative who commenced HD between 2000 and 2010 in Asia-Pacific, Europe, North-, and South-America and survived at least 6 months were included in this investigation...
2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/28481340/widespread-adenine-n6-methylation-of-active-genes-in-fungi
#5
Stephen J Mondo, Richard O Dannebaum, Rita C Kuo, Katherine B Louie, Adam J Bewick, Kurt LaButti, Sajeet Haridas, Alan Kuo, Asaf Salamov, Steven R Ahrendt, Rebecca Lau, Benjamin P Bowen, Anna Lipzen, William Sullivan, Bill B Andreopoulos, Alicia Clum, Erika Lindquist, Christopher Daum, Trent R Northen, Govindarajan Kunde-Ramamoorthy, Robert J Schmitz, Andrii Gryganskyi, David Culley, Jon Magnuson, Timothy Y James, Michelle A O'Malley, Jason E Stajich, Joseph W Spatafora, Axel Visel, Igor V Grigoriev
N6-methyldeoxyadenine (6mA) is a noncanonical DNA base modification present at low levels in plant and animal genomes, but its prevalence and association with genome function in other eukaryotic lineages remains poorly understood. Here we report that abundant 6mA is associated with transcriptionally active genes in early-diverging fungal lineages. Using single-molecule long-read sequencing of 16 diverse fungal genomes, we observed that up to 2.8% of all adenines were methylated in early-diverging fungi, far exceeding levels observed in other eukaryotes and more derived fungi...
June 2017: Nature Genetics
https://www.readbyqxmd.com/read/28476564/global-mortality-variations-in-patients-with-heart-failure-results-from-the-international-congestive-heart-failure-inter-chf-prospective-cohort-study
#6
Hisham Dokainish, Koon Teo, Jun Zhu, Ambuj Roy, Khalid F AlHabib, Ahmed ElSayed, Lia Palileo-Villaneuva, Patricio Lopez-Jaramillo, Kamilu Karaye, Khalid Yusoff, Andres Orlandini, Karen Sliwa, Charles Mondo, Fernando Lanas, Dorairaj Prabhakaran, Amr Badr, Mohamed Elmaghawry, Albertino Damasceno, Kemi Tibazarwa, Emilie Belley-Cote, Kumar Balasubramanian, Shofiqul Islam, Magdi H Yacoub, Mark D Huffman, Karen Harkness, Alex Grinvalds, Robert McKelvie, Shrikant I Bangdiwala, Salim Yusuf
BACKGROUND: Most data on mortality and prognostic factors in patients with heart failure come from North America and Europe, with little information from other regions. Here, in the International Congestive Heart Failure (INTER-CHF) study, we aimed to measure mortality at 1 year in patients with heart failure in Africa, China, India, the Middle East, southeast Asia and South America; we also explored demographic, clinical, and socioeconomic variables associated with mortality. METHODS: We enrolled consecutive patients with heart failure (3695 [66%] clinic outpatients, 2105 [34%] hospital in patients) from 108 centres in six geographical regions...
May 3, 2017: Lancet Global Health
https://www.readbyqxmd.com/read/28403938/mondoa-chrebp-the-usual-suspects-of-transcriptional-glucose-sensing-implication-in-pathophysiology
#7
REVIEW
Paul Richards, Sarah Ourabah, Jacques Montagne, Anne-Françoise Burnol, Catherine Postic, Sandra Guilmeau
Identification of the Mondo glucose-responsive transcription factors family, including the MondoA and MondoB/ChREBP paralogs, has shed light on the mechanism whereby glucose affects gene transcription. They have clearly emerged, in recent years, as key mediators of glucose sensing by multiple cell types. MondoA and ChREBP have overlapping yet distinct expression profiles, which underlie their downstream targets and separate roles in regulating genes involved in glucose metabolism. MondoA can restrict glucose uptake and influences energy utilization in skeletal muscle, while ChREBP signals energy storage through de novo lipogenesis in liver and white adipose tissue...
May 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28372551/kidney-disease-in-uganda-a-community-based-study
#8
Robert Kalyesubula, Joaniter I Nankabirwa, Isaac Ssinabulya, Trishul Siddharthan, James Kayima, Jane Nakibuuka, Robert A Salata, Charles Mondo, Moses R Kamya, Donald Hricik
BACKGROUND: Chronic kidney disease (CKD) is a major cause of morbidity and mortality in Sub-Saharan Africa (SSA). The majority of studies on CKD in SSA have been conducted among HIV-infected populations and mainly from large health facilities. We determined the prevalence of CKD and its predictors among populations in communities in central Uganda. METHODS: A cross-sectional study was conducted in Wakiso district using multi-stage sampling. Data was collected on age, sex, socio-economic status, history of alcohol intake, diabetes mellitus, hypertension and smoking...
April 3, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28350543/mondo-a-neutron-tracker-for-particle-therapy-secondary-emission-characterisation
#9
M Marafini, L Gasparini, R Mirabelli, D Pinci, V Patera, A Sciubba, E Spiriti, D Stoppa, G Traini, A Sarti
Tumour control is performed in particle therapy using particles and ions, whose high irradiation precision enhances the effectiveness of the treatment, while sparing the healthy tissue surrounding the target volume. Dose range monitoring devices using photons and charged particles produced by the beam interacting with the patient's body have already been proposed, but no attempt has been made yet to exploit the detection of the abundant neutron component. Since neutrons can release a significant dose far away from the tumour region, precise measurements of their flux, production energy and angle distributions are eagerly sought in order to improve the treatment planning system (TPS) software...
April 21, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28283851/serum-ferritin-as-an-indicator-of-the-development-of-encephalopathy-in-enterohemorrhagic-escherichia-coli-induced-hemolytic-uremic-syndrome
#10
Masaki Shimizu, Natsumi Inoue, Mondo Kuroda, Hitoshi Irabu, Maiko Takakura, Hisashi Kaneda, Naotoshi Sugimoto, Kazuhide Ohta, Akihiro Yachie
OBJECTIVES: To investigate the diagnostic value of serum ferritin levels as a marker of disease activity and the development of encephalopathy in hemolytic uremic syndrome (HUS) induced by enterohemorrhagic Escherichia coli. METHODS: Twenty patients with HUS were studied. Serum ferritin levels were compared with clinical features and serum soluble tumor necrosis factor receptor (sTNFR) I and sTNFRII levels. Serum sTNFRI and sTNFRII levels were quantified by enzyme-linked immunosorbent assays...
March 10, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28262911/echocardiographic-predictors-of-outcome-in-acute-heart-failure-patients-in-sub-saharan-africa-insights-from-thesus-hf
#11
MULTICENTER STUDY
Mahmoud U Sani, Beth A Davison, Gad Cotter, Albertino Damasceno, Bongani M Mayosi, Okechukwu S Ogah, Charles Mondo, Anastase Dzudie, Dike B Ojji, Charles Kouam Kouam, Ahmed Suliman, Gerald Yonga, Sergine Abdou Ba, Fikru Maru, Bekele Alemayehu, Christopher Edwards, Karen Sliwa
BACKGROUND: The role of echocardiography in the risk stratification of acute heart failure (HF) is unknown. Some small studies and retrospective analyses have found little change in echocardiographic variables during admission for acute HF and some echocardiographic parameters were not found to be associated with outcomes. It is unknown which echocardiographic variables will predict outcomes in sub-Saharan African patients admitted with acute HF. Using echocardiograms, this study aimed to determine the predictors of death and re-admissions within 60 days and deaths up to 180 days in patients with acute heart failure...
January 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28244634/m%C3%A3-bius-aromatic-28-hexaphyrin-germanium-iv-and-tin-iv-complexes-efficient-formation-of-triplet-exited-states
#12
Mondo Izawa, Taeyeon Kim, Shin-Ichiro Ishida, Takayuki Tanaka, Tadashi Mori, Dongho Kim, Atsuhiro Osuka
[28]Hexaphyrin Ge(IV) and Sn(IV) complexes were synthesized in high yields by reactions of [28]hexaphyrin with GeCl4 or SnCl4 in the presence of triethylamine. Both complexes display distinct 28π Möbius aromatic character and possess a trigonal bipyramidal geometry at the central Ge(IV) or Sn(IV) atom. The equatorial hydroxy group of the Ge(IV) complex was smoothly exchanged with neutral nucleophiles, such as phenol derivatives and thiophenol, with retention of configuration. In the Sn(IV) complex, intersystem crossing to the T1  state is remarkably enhanced owing to the effective heavy-atom effect, thus allowing the formation of the T1  state in high yield...
February 28, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28209335/impact-of-fluid-status-and-inflammation-and-their-interaction-on-survival-a-study-in-an-international-hemodialysis-patient-cohort
#13
Marijke J E Dekker, Daniele Marcelli, Bernard J Canaud, Paola Carioni, Yuedong Wang, Aileen Grassmann, Constantijn J A M Konings, Peter Kotanko, Karel M Leunissen, Nathan W Levin, Frank M van der Sande, Xiaoling Ye, Vaibhav Maheshwari, Len A Usvyat, Jeroen P Kooman
In hemodialysis patients extracellular fluid overload is a predictor of all-cause and cardiovascular mortality, and a relation with inflammation has been reported in previous studies. The magnitude and nature of this interaction and the effects of moderate fluid overload and extracellular fluid depletion on survival are still unclear. We present the results of an international cohort study in 8883 hemodialysis patients from the European MONDO initiative database where, during a three-month baseline period, fluid status was assessed using bioimpedance and inflammation by C-reactive protein...
May 2017: Kidney International
https://www.readbyqxmd.com/read/28132818/salt-inducible-kinase-3-provides-sugar-tolerance-by-regulating-nadph-nadp-redox-balance
#14
Mari Teesalu, Bohdana M Rovenko, Ville Hietakangas
Nutrient-sensing pathways respond to changes in the levels of macronutrients, such as sugars, lipids, or amino acids, and regulate metabolic pathways to maintain organismal homeostasis [1, 2]. Consequently, nutrient sensing provides animals with the metabolic flexibility necessary for enduring temporal fluctuations in nutrient intake. Recent studies have shown that an animal's ability to survive on a high-sugar diet is determined by sugar-responsive gene regulation [3-8]. It remains to be elucidated whether other levels of metabolic control, such as post-translational regulation of metabolic enzymes, also contribute to organismal sugar tolerance...
February 6, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/27956601/lipid-metabolic-changes-in-an-early-divergent-fungus-govern-the-establishment-of-a-mutualistic-symbiosis-with-endobacteria
#15
Olga A Lastovetsky, Maria L Gaspar, Stephen J Mondo, Kurt M LaButti, Laura Sandor, Igor V Grigoriev, Susan A Henry, Teresa E Pawlowska
The recent accumulation of newly discovered fungal-bacterial mutualisms challenges the paradigm that fungi and bacteria are natural antagonists. To understand the mechanisms that govern the establishment and maintenance over evolutionary time of mutualisms between fungi and bacteria, we studied a symbiosis of the fungus Rhizopus microsporus (Mucoromycotina) and its Burkholderia endobacteria. We found that nonhost R. microsporus, as well as other mucoralean fungi, interact antagonistically with endobacteria derived from the host and are not invaded by them...
December 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27764933/-effectiveness-of-school-based-interventions-to-prevent-traffic-accidents-an-overview-of-secondary-literature
#16
Chiara Guerriero, Federico Verdina, Chiara Ferri, Martina Pizzaguerra, Silvia Silvestri, Nastassja Tober, Quenya Ristagno, Alessandro Costa, Michele Cerasuolo, Fabrizio Faggiano, Elias Allara
INTRODUZIONE: gli incidenti stradali sono l'ottava causa di morte al mondo e la prima tra i giovani di 15-29 anni. In Italia il Piano nazionale sicurezza stradale raccomanda l'educazione scolastica per la prevenzione degli incidenti stradali; ad oggi non esistono documenti che raccolgano evidenze di efficacia sugli interventi educativi stradali e le rapportino al contesto italiano. OBIETTIVI: riassumere e discutere ciò che è noto in letteratura riguardo agli interventi scolastici per la prevenzione degli incidenti stradali...
September 2016: Epidemiologia e Prevenzione
https://www.readbyqxmd.com/read/27764930/-national-epidemiological-surveillance-systems-of-mesothelioma-cases
#17
Pierpaolo Ferrante, Alessandra Binazzi, Claudia Branchi, Alessandro Marinaccio
INTRODUZIONE: sebbene la relazione causale tra esposizione ad amianto e malattie neoplastiche sia ben nota, in molti Paesi il consumo del materiale è ancora rilevante e crescente. A causa della lunga latenza, nei Paesi dove è stato bandito (come in Italia) è oggi in corso un'epidemia di malattie correlate ad amianto. OBIETTIVI: descrivere i sistemi di sorveglianza dei mesoteliomi attivi nel mondo mediante un'analisi comparativa. METODI: è stata condotta una revisione bibliografica della letteratura disponibile sui sistemi di sorveglianza epidemiologica dei mesoteliomi attivi nel mondo, comparando metodi e risultati disponibili...
September 2016: Epidemiologia e Prevenzione
https://www.readbyqxmd.com/read/27727262/-somministrazione-mensile-di-aripirazolo-long-acting-come-trattamento-dei-sintomi-psicotici-nella-sindrome-di-turner-revisione-della-letteratura-e-caso-clinico
#18
Cristiano Carlone, Enrico Pompili, Cristiana Silvestrini, Giuseppe Nicolò
RIASSUNTO. La sindrome di Turner (ST) è una malattia neurogenetica caratterizzata da parziale o completa monosomia-X, di solito risultante da una non disgiunzione cromosomica sporadica. Si tratta di una delle più comuni anomalie dei cromosomi sessuali, colpendo circa 1 su 2.000 femmine nate vive. Nessuna condizione psichiatrica è stata tradizionalmente legata alla ST, ed essa non è menzionata nel DSM-IV. Nel mondo, tuttavia, sono riportati casi di ST concomitanti con patologia schizofrenica e/o con sintomatologia psicotica...
July 2016: Rivista di Psichiatria
https://www.readbyqxmd.com/read/27702773/clinical-outcomes-in-3343-children-and-adults-with-rheumatic-heart-disease-from-14-low-and-middle-income-countries-two-year-follow-up-of-the-global-rheumatic-heart-disease-registry-the-remedy-study
#19
MULTICENTER STUDY
Liesl Zühlke, Ganesan Karthikeyan, Mark E Engel, Sumathy Rangarajan, Pam Mackie, Blanche Cupido-Katya Mauff, Shofiqul Islam, Rezeen Daniels, Veronica Francis, Stephen Ogendo, Bernard Gitura, Charles Mondo, Emmy Okello, Peter Lwabi, Mohammed M Al-Kebsi, Christopher Hugo-Hamman, Sahar S Sheta, Abraham Haileamlak, Wandimu Daniel, Dejuma Yadeta Goshu, Senbeta G Abdissa, Araya G Desta, Bekele A Shasho, Dufera M Begna, Ahmed ElSayed, Ahmed S Ibrahim, John Musuku, Fidelia Bode-Thomas, Christopher C Yilgwan, Ganiyu A Amusa, Olukemi Ige, Basil Okeahialam, Christopher Sutton, Rajeev Misra, Azza Abul Fadl, Neil Kennedy, Albertino Damasceno, Mahmoud U Sani, Okechukwu S Ogah, Taiwo OlunugaHuda H M Elhassan, Ana Olga Mocumbi, Abiodun M Adeoye, Phindile Mntla, Dike Ojji, Joseph Mucumbitsi, Koon Teo, Salim Yusuf, Bongani M Mayosi
BACKGROUND: There are few contemporary data on the mortality and morbidity associated with rheumatic heart disease or information on their predictors. We report the 2-year follow-up of individuals with rheumatic heart disease from 14 low- and middle-income countries in Africa and Asia. METHODS: Between January 2010 and November 2012, we enrolled 3343 patients from 25 centers in 14 countries and followed them for 2 years to assess mortality, congestive heart failure, stroke or transient ischemic attack, recurrent acute rheumatic fever, and infective endocarditis...
November 8, 2016: Circulation
https://www.readbyqxmd.com/read/27696664/a-say-barber-biesecker-young-simpson-variant-of-ohdo-syndrome-with-a-kat6b-10-base-pair-palindromic-duplication-a-recurrent-mutation-causing-a-severe-phenotype-mixed-with-genitopatellar-syndrome
#20
Yo Niida, Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, Akiko Kato
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. Genotype-phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS...
May 2017: Congenital Anomalies
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