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https://www.readbyqxmd.com/read/28239025/the-role-of-single-nucleotide-variants-of-the-energy-metabolism-linked-genes-sirt3-ppargc1a-and-apoe-in-amyotrophic-lateral-sclerosis-risk
#1
Diego Albani, Elisabetta Pupillo, Elisa Bianchi, Armando Chierchia, Rosalba Martines, Gianluigi Forloni, Ettore Beghi
Amyotrophic lateral sclerosis (ALS) is a multifactorial disease, possibly with contributions from genetics and lifestyle. We examined variants in genes relevant to energy metabolism and physical activity in a case-control association study, with the aim of assessing genetics and physical activity as contributors to ALS risk. A well-characterized sample of Italian ALS patients (101) and controls (101) from the EURALS Consortium underwent a questionnaire interview on demographic, physical and other lifestyle habits, and venipuncture for DNA extraction...
February 24, 2017: Genes & Genetic Systems
https://www.readbyqxmd.com/read/28237315/loss-of-spatacsin-function-alters-lysosomal-lipid-clearance-leading-to-upper-and-lower-motor-neuron-degeneration
#2
Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Mutations in SPG11 account for the most common form of autosomal recessive hereditary spastic paraplegia (HSP), characterized by a gait disorder associated with various brain alterations. Mutations in the same gene are also responsible for rare forms of Charcot-Marie-Tooth (CMT) disease and progressive juvenile-onset amyotrophic lateral sclerosis (ALS). To elucidate the physiopathological mechanisms underlying these human pathologies, we disrupted the Spg11 gene in mice by inserting stop codons in exon 32, mimicking the most frequent mutations found in patients...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28236105/selection-and-prioritization-of-candidate-drug-targets-for-amyotrophic-lateral-sclerosis-through-a-meta-analysis-approach
#3
Giovanna Morello, Antonio Gianmaria Spampinato, Francesca Luisa Conforti, Velia D'Agata, Sebastiano Cavallaro
Amyotrophic lateral sclerosis (ALS) is a progressive and incurable neurodegenerative disease. Although several compounds have shown promising results in preclinical studies, their translation into clinical trials has failed. This clinical failure is likely due to the inadequacy of the animal models that do not sufficiently reflect the human disease. Therefore, it is important to optimize drug target selection by identifying those that overlap in human and mouse pathology. We have recently characterized the transcriptional profiles of motor cortex samples from sporadic ALS (SALS) patients and differentiated these into two subgroups based on differentially expressed genes, which encode 70 potential therapeutic targets...
February 24, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28235672/neurobiology-of-axonal-transport-defects-in-motor-neuron-diseases-opportunities-for-translational-research
#4
Kurt J De Vos, Majid Hafezparast
Intracellular trafficking of cargoes is an essential process to maintain the structure and function of all mammalian cell types, but especially of neurons because of their extreme axon/dendrite polarisation. Axonal transport mediates the movement of cargoes such as proteins, mRNA, lipids, membrane-bound vesicles and organelles that are mostly synthesised in the cell body and in doing so is responsible for their correct spatiotemporal distribution in the axon, for example at specialised sites such as nodes of Ranvier and synaptic terminals...
February 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28229532/n-butylidenephthalide-treatment-prolongs-life-span-and-attenuates-motor-neuron-loss-in-sod1-g93a-mouse-model-of-amyotrophic-lateral-sclerosis
#5
Qin-Ming Zhou, Jing-Jing Zhang, Song Li, Sheng Chen, Wei-Dong Le
AIMS: To evaluate the therapeutic effects of n-butylidenephthalide (BP) in SOD1(G93A) mouse model of amyotrophic lateral sclerosis and explore the possible mechanisms. METHODS: The SOD1(G93A) mice were treated by oral administration of BP (q.d., 400 mg/kg d) starting from 60 days of age and continuing until death. The rotarod test was performed to assess the disease onset. The expression levels of apoptosis-related proteins, inflammatory molecules, and autophagy-associated proteins were determined...
February 22, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28229508/meditation-training-for-people-with-amyotrophic-lateral-sclerosis-a-randomized-clinical-trial
#6
F Pagnini, A Marconi, A Tagliaferri, G M Manzoni, R Gatto, V Fabiani, G Gragnano, G Rossi, E Volpato, P Banfi, A Palmieri, F Graziano, G Castelnuovo, M Corbo, E Molinari, N Riva, V Sansone, C Lunetta
BACKGROUND AND PURPOSE: Studies investigating psychological interventions for the promotion of well-being in people with amyotrophic lateral sclerosis (ALS) are lacking. The purpose of the current study was to examine the use of an ALS-specific mindfulness-based intervention for improving quality of life in this population. METHODS: A randomized, open-label and controlled clinical trial was conducted on the efficacy of an ALS-specific meditation programme in promoting quality of life...
February 23, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28228570/urinary-p75-ecd-a-prognostic-disease-progression-and-pharmacodynamic-biomarker-in-als
#7
Stephanie R Shepheard, Joanne Wuu, Michell Cardoso, Luke Wiklendt, Phil G Dinning, Tim Chataway, David Schultz, Michael Benatar, Mary-Louise Rogers
OBJECTIVE: To evaluate urinary neurotrophin receptor p75 extracellular domain (p75(ECD)) levels as disease progression and prognostic biomarkers in amyotrophic lateral sclerosis (ALS). METHODS: The population in this study comprised 45 healthy controls and 54 people with ALS, 31 of whom were sampled longitudinally. Urinary p75(ECD) was measured using an enzyme-linked immunoassay and validation included intra-assay and inter-assay coefficients of variation, effect of circadian rhythm, and stability over time at room temperature, 4°C, and repeated freeze-thaw cycles...
February 22, 2017: Neurology
https://www.readbyqxmd.com/read/28225381/information-seeking-behavior-and-information-needs-in-patients-with-amyotrophic-lateral-sclerosis-analyzing-an-online-patient-community
#8
Juyeon Oh, Jung A Kim
A few studies have examined the specific informational needs of the population with amyotrophic lateral sclerosis. The aims of this study were to describe the information-seeking behavior and information needs of patients with amyotrophic lateral sclerosis and their families in Korea by analyzing messages from an online patient community. A total of 1047 messages from the question and answer forum of the "Lou Gehrig's Disease Network" (http://cafe.daum.net/alsfree) from January 2010 to September 2015 were collected...
February 22, 2017: Computers, Informatics, Nursing: CIN
https://www.readbyqxmd.com/read/28224914/inheritance-of-2-4-d-resistance-traits-in-multiple-herbicide-resistant-raphanus-raphanistrum-populations
#9
Roberto Busi, Stephen B Powles
A relatively low number of weed species have evolved resistance to auxinic herbicides despite their use for almost 70 years. This inheritance study with two Raphanus raphanistrum populations multiple-resistant 2,4-D and the ALS-inhibiting herbicide chlorsulfuron determined the number of genes and genetic dominance of 2,4-D resistance and investigated the association between traits conferring resistance to the two herbicide modes of action. Levels of 2,4-D phenotypic resistance and resistance segregation patterns were assessed in parental populations, F1 and F2 families...
April 2017: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/28224908/comparison-of-multivariate-curve-resolution-strategies-in-quantitative-lcxlc-application-to-the-quantification-of-furanocoumarins-in-apiaceous-vegetables
#10
Daniel W Cook, Mackenzie L Burnham, David C Harmes, Dwight R Stoll, Sarah C Rutan
Comprehensive two-dimensional liquid chromatography (LC × LC) has been gaining popularity for the analysis of complex samples in a wide range of fields including metabolomics, environmental analysis, and food analysis. While LC × LC can provide greater chromatographic resolution than one-dimensional LC (1D-LC), overlapping peaks are often still present in separations of complex samples, a problem that can be alleviated by chemometric curve resolution techniques such as multivariate curve resolution-alternating least squares (MCR-ALS)...
April 8, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28222900/genetic-analysis-of-the-sod1-and-c9orf72-genes-in-hungarian-patients-with-amyotrophic-lateral-sclerosis
#11
Kornélia Tripolszki, Bernadett Csányi, Dóra Nagy, Antonia Ratti, Cinzia Tiloca, Vincenzo Silani, Éva Kereszty, Nóra Török, László Vécsei, József I Engelhardt, Péter Klivényi, Nikoletta Nagy, Márta Széll
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of motor neurons. To date, more than 20 genes have been implicated in ALS, and of these, the 2 most frequently mutated are the superoxide dismutase 1 (SOD1) gene and the chromosome 9 open reading frame 72 (C9ORF72) gene. In this study, we aimed to investigate the contribution of these 2 Mendelian genes to the development of the disease in Hungarian ALS patients (n = 66). Direct sequencing of the SOD1 gene revealed a novel (p...
January 29, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28222570/communication-vulnerable-in-patients-with-amyotrophic-lateral-sclerosis-a-systematic-review
#12
Lavoisier Leite Neto, Ana Carolina Constantini, Regina Yu Shon Chun
BACKGROUND: Individuals with Amyotrophic Lateral Sclerosis (ALS) exhibits speech disorders since the early stages that decrease the communication rate and interfere in social participation. OBJECTIVE: To conduct a literature review on communication vulnerable and Augmentative and Alternative Communication (AAC) in Amyotrophic Lateral Sclerosis. METHOD: Descriptors of the Health Sciences Descriptors (DeCS) were used: Amyotrophic Lateral Sclerosis, Health Vulnerability, Communication Barriers, Nonverbal Communication, and Communication Aids for Disabled...
February 10, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28222201/linkage-and-mapping-of-quantitative-trait-loci-associated-with-angular-leaf-spot-and-powdery-mildew-resistance-in-common-beans
#13
Denis Bassi, Boris Briñez, Juliana Santa Rosa, Paula Rodrigues Oblessuc, Caléo Panhoca de Almeida, Stella Maris Nucci, Larissa Chariel Domingos da Silva, Alisson Fernando Chiorato, Rosana Pereira Vianello, Luis Eduardo Aranha Camargo, Matthew Wohlgemuth Blair, Luciana Lasry Benchimol-Reis
Angular leaf spot (ALS) and powdery mildew (PWM) are two important fungi diseases causing significant yield losses in common beans. In this study, a new genetic linkage map was constructed using single sequence repeats (SSRs) and single nucleotide polymorphisms (SNPs), in a segregating population derived from the AND 277 x SEA 5 cross, with 105 recombinant inbred lines. Phenotypic evaluations were performed in the greenhouse to identify quantitative trait loci (QTLs) associated with resistance by means of the composite interval mapping analysis...
February 20, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28220290/epidemiology-of-amyotrophic-lateral-sclerosis-in-southern-germany
#14
Angela Rosenbohm, Raphael S Peter, Siegfried Erhardt, Dorothée Lulé, Dietrich Rothenbacher, Albert C Ludolph, Gabriele Nagel
The objective of this study is to determine the current distribution of clinical phenotypes and to estimate future trends of ALS incidence in Western societies. We report on a clinical-epidemiological registry with a capture-recapture rate of >80% and population-based case-control study in ALS patients in South Western Germany. 1163 incidents of ALS were registered. Clinical and neuropsychological data were prospectively collected from 699 cases. The mean age at onset was 66.6 (SD = 11.6) years in prospective cases (N = 699)...
February 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28215142/small-molecule-modulation-of-hdac6-activity-the-propitious-therapeutic-strategy-to-vanquish-neurodegenerative-disorders
#15
Shabir Ahmad Ganai
Histone deacetylases (HDACs) are epigenetic enzymes creating the transcriptionally inactive state of chromatin by erasing acetyl moiety from histone and non-histone substrates. HDAC6 modulates several biological pathways in dividing cells as well as in post-mitotic neurons, and has been implicated in the pathophysiology of neurodegeneration. The distinct cellular functions and survival in these cells are reliant on HDAC6-mediated processes including intracellular trafficking, chaperone-mediated stress responses, anti-oxidation and protein degradation...
8, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28214324/behandlungspr%C3%A3-ferenzen-f%C3%A3-r-biologika-bei-psoriasis-erfahrene-patienten-legen-wert-auf-nachhaltigkeit
#16
Christian Kromer, Wiebke K Peitsch, Raphael Herr, Astrid Schmieder, Diana Sonntag, Marthe-Lisa Schaarschmidt
HINTERGRUND UND ZIELE: Die Therapiezufriedenheit kann durch die Berücksichtigung von Patientenpräferenzen in der gemeinsamen Entscheidungsfindung verbessert werden. Kürzlich untersuchten wir Patientenpräferenzen für Eigenschaften von Biologika und fanden starke Präferenzen für Sicherheit und Wirksamkeit. Die vorliegende Studie hatte das Ziel, Auswirkungen von Therapieerfahrung auf diese Präferenzen zu erheben. PATIENTEN UND METHODEN: Präferenzen für Ergebnis- (Wahrscheinlichkeit einer 50%igen und 90%igen Verbesserung, Zeit bis zum Ansprechen, Nachhaltigkeit des Erfolgs, Wahrscheinlichkeit von leichten und schweren Nebenwirkungen und Wahrscheinlichkeit eines ACR-20-Ansprechens) und Prozesseigenschaften (Behandlungsort, Behandlungshäufigkeit, Zeitaufwand und Applikationsweise) wurden bei 200 Teilnehmern mit mittelschwerer bis schwerer Psoriasis mit Hilfe von Conjoint-Analyse ermittelt...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28214313/europ%C3%A3-ische-leitlinien-s1-f%C3%A3-r-die-anwendung-von-hochdosierten-intraven%C3%A3-sen-immunglobulinen-in-der-dermatologie
#17
Alexander Enk, Eva Hadaschik, Rüdiger Eming, Gerhard Fierlbeck, Lars French, Giampiero Girolomoni, Michael Hertl, Stephen Jolles, Sarolta Karpati, Kerstin Steinbrink, Georg Stingl, Beatrix Volc-Platzer, Detlef Zillikens
HINTERGRUND UND ZIELE: Die Behandlung schwerer dermatologischer Autoimmunerkrankungen und der toxischen epidermalen Nekrolyse (TEN) mit hochdosierten intravenösen Immunglobulinen (IVIg) ist ein bewährtes therapeutisches Verfahren in der Dermatologie. Da eine IVIg-Therapie in der Regel nur bei seltenen Erkrankungen oder bei schweren Fällen in Betracht gezogen wird, stützt sich die Anwendung von Immunglobulinen zumeist nicht auf Daten aus randomisierten kontrollierten Studien, wie sie in der evidenzbasierten Medizin erforderlich sind...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28214307/krankheitsverlauf-medizinische-versorgung-und-lebensqualit%C3%A3-t-von-patienten-mit-kongenitalen-melanozyt%C3%A3-ren-n%C3%A3-vi-auswertung-des-deutschsprachigen-kmn-registers
#18
Maria Elisabeth Wramp, Anna Langenbruch, Matthias Augustin, Detlef Zillikens, Sven Krengel
HINTERGRUND: Kongenitale melanozytäre Nävi (KMN) bedeuten für Patienten und Familien eine psychologische Belastung und bergen zudem medizinische Risiken. Das 2005 gegründete deutschsprachige KMN-Register wurde nun einer Zwischenauswertung bezüglich des Krankheitsverlaufes, der medizinischen Versorgung und der Lebensqualität unterzogen. PATIENTEN UND METHODIK: 100 Patienten, die sich in den Jahren 2005 bis 2012 mit einem Erstmeldebogen registriert hatten, wurde im Rahmen einer prospektiven Kohortenstudie Anfang 2013 ein Folgemeldebogen zugesandt...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28214306/update-therapie-der-necrobiosis-lipoidica
#19
REVIEW
Melanie Peckruhn, Jörg Tittelbach, Peter Elsner
Die Necrobiosis lipoidica ist eine seltene granulomatöse Erkrankung von bisher unzureichend geklärter Ätiologie. Häufig stellt die bei Diabetikern gehäuft zu beobachtende und zur Ulzeration neigende Dermatose eine starke Belastung für die Patienten dar. Bezüglich der Therapie existieren aktuell keine deutschen oder europäischen Leitlinien. Gleichzeitig lässt sich unter der aktuellen Standardtherapie, der lokalen oder intraläsionalen Anwendung von Glukokortikoiden, nicht immer ein zufriedenstellendes Ansprechen beobachten...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28214300/sentinel-lymphknoten-biopsie-des-melanoms-mittels-indocyaningr%C3%A3-n-und-fovis-system
#20
Daniela Göppner, Stephan Nekwasil, Anne Jellestad, Alexander Sachse, Karl-Heinz Schönborn, Harald Gollnick
HINTERGRUND: Der Nachweis metastatischer Infiltrate im Sentinel-Lymphkoten (SLN) gilt als wesentlicher prognostischer Faktor des Melanoms. Alternativ zur Farbstoffmethode mit Patentblau zum Goldstandard der SLN-Biopsie (SLNB) mittels Radiokolloid wird die fluoreszenzoptische Darstellung mit Hilfe von Indocyaningrün (ICG) und Nahinfrarot (NIR)-Kamerasystem kommuniziert. Im Vergleich zur konventionellen Methode wurde die Wertigkeit des ICG-/NIR-Verfahrens in Abhängigkeit vom Body-Mass-Index (BMI) des Patienten und der Konzentration von ICG bezüglich der Visualisierung des Lymphabstroms und des SLNs untersucht...
February 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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