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Leo H Wang, Michael A Elliott, Lily Jung Henson, Elba Gerena-Maldonado, Susan Strom, Sharon Downing, Jennifer Vetrovs, Paige Kayihan, Piper Paul, Kate Kennedy, Joshua O Benditt, Michael D Weiss
OBJECTIVES: To describe the amyotrophic lateral sclerosis (ALS) patients who sought medication under the Washington State Death with Dignity (DWD) Act since its inception in 2009. METHODS: Chart review at 3 tertiary medical centers in the Seattle/Puget Sound region and comparison to publicly available data of ALS and all-cause DWD cohorts from Washington and Oregon. RESULTS: In Washington State, 39 patients with ALS requested DWD from the University of Washington, Virginia Mason, and Swedish Medical Centers beginning in 2009...
October 21, 2016: Neurology
Cheng-Fu Chang, Yi-Chao Lee, Kuen-Haur Lee, Hui-Ching Lin, Chia-Ling Chen, Che-Kun James Shen, Chi-Chen Huang
BACKGROUND: In the central nervous system regions of the sporadic and familial FTLD and ALS patients, TDP-43 has been identified as the major component of UBIs inclusions which is abnormally hyperphosphorylated, ubiquitinated, and cleaved into C-terminal fragments to form detergent-insoluble aggregates. So far, the effective drugs for FTLD and ALS neurodegenerative diseases are yet to be developed. Autophagy has been demonstrated as the major metabolism route of the pathological TDP-43 inclusions, hence activation of autophagy is a potential therapeutic strategy for TDP-43 pathogenesis in FTLD and ALS...
October 21, 2016: Journal of Biomedical Science
Kyung-Ha Lee, Peipei Zhang, Hong Joo Kim, Diana M Mitrea, Mohona Sarkar, Brian D Freibaum, Jaclyn Cika, Maura Coughlin, James Messing, Amandine Molliex, Brian A Maxwell, Nam Chul Kim, Jamshid Temirov, Jennifer Moore, Regina-Maria Kolaitis, Timothy I Shaw, Bing Bai, Junmin Peng, Richard W Kriwacki, J Paul Taylor
Expansion of a hexanucleotide repeat GGGGCC (G4C2) in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Transcripts carrying (G4C2) expansions undergo unconventional, non-ATG-dependent translation, generating toxic dipeptide repeat (DPR) proteins thought to contribute to disease. Here, we identify the interactome of all DPRs and find that arginine-containing DPRs, polyGly-Arg (GR) and polyPro-Arg (PR), interact with RNA-binding proteins and proteins with low complexity sequence domains (LCDs) that often mediate the assembly of membrane-less organelles...
October 20, 2016: Cell
Christopher P Webster, Emma F Smith, Andrew J Grierson, Kurt J De Vos
A GGGGCC hexanucleotide repeat expansion in the first intron of the C9orf72 gene is the most common genetic defect associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (C9ALS/FTD). Haploinsufficiency and a resulting loss of C9orf72 protein function has been suggested as a possible pathogenic mechanism in C9ALS/FTD. C9ALS/FTD patients exhibit specific ubiquitin and p62/sequestosome-1 positive but TDP-43 negative inclusions in the cerebellum and hippocampus, indicating possible autophagy deficits in these patients...
October 21, 2016: Small GTPases
Jürgen Keller, Martin Gorges, Helena E A Aho-Özhan, Ingo Uttner, Erich Schneider, Jan Kassubek, Elmar H Pinkhardt, Albert C Ludolph, Dorothée Lulé
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with pathological involvement of upper and lower motoneurons, subsequently leading to progressive loss of motor and speech abilities. In addition, cognitive functions are impaired in a subset of patients. To evaluate these potential deficits in severely physically impaired ALS patients, eye-tracking is a promising means to conduct cognitive tests. The present article focuses on how eye movements, an indirect means of communication for physically disabled patients, can be utilized to allow for detailed neuropsychological assessment...
October 13, 2016: Journal of Visualized Experiments: JoVE
Andreas Benedikt Weins, Tilo Biedermann, Tina Weiss, Johannes Martin Weiss
Das Wells-Syndrom, auch als eosinophile Zellulitis bezeichnet, ist eine seltene, sporadisch auftretende eosinophile Dermatose mit polymorphem klinischem Bild. Als typisch gelten entzündliche Erytheme oder Plaques an den Extremitäten, die initial als Erysipel imponieren können, unter antimikrobieller Behandlung aber persistieren. Die eosinophile Zellulitis ist eine Ausschlussdiagnose, die in Zusammenschau von klinischem Befund und charakteristischem histologischem Bild (Flammenfiguren) nur im Verlauf gestellt werden kann...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Iliana Tantcheva-Poór, Vinzenz Oji, Cristina Has
Jüngste Fortschritte der Genforschung haben ihren Weg in die klinische Dermatologie gefunden. Nahezu ein Drittel aller Erbkrankheiten zeigt charakteristische Hautveränderungen. Zudem können Proben menschlicher Haut als Untersuchungsmaterial zur Detektion genetischer Mosaike und der zu Grunde liegenden Defekte eingesetzt werden. Die Diagnose von Genodermatosen bleibt jedoch aufgrund ihrer unterschiedlich ausgeprägten und überlappenden Phänotypen sowie ihrer Seltenheit und Vielzahl neuer Informationen wegen eine Herausforderung für die Kliniker...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Finja Jockenhöfer, Katharina Herberger, Jörg Schaller, Katja Christina Hohaus, Maren Stoffels-Weindorf, Philipp Al Ghazal, Matthias Augustin, Joachim Dissemond
EINLEITUNG: Das Pyoderma gangraenosum (PG) ist eine seltene, inflammatorische destruktiv-ulzerierende neutrophile Erkrankung mit weitgehend unklarer Pathophysiologie. MATERIAL UND METHODIK: In dieser Studie wurden die potenziell relevanten Kofaktoren und Begleiterkrankungen von Patienten mit PG aus drei dermatologischen Wundzentren in Deutschland differenziert ausgewertet. ERGEBNISSE: Von den insgesamt 121 analysierten Patienten waren Frauen (66,9 %) häufiger betroffen als Männer...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Markus Zutt, Hagen Rudolph, Kjell Matthias Kaune, Werner Wosniok, Ulrich Gärtner, Rainer Linke
HINTERGRUND: Kardiale Komorbiditäten bei Patienten mit Psoriasis stehen seit Jahren im Fokus. Ziel dieser Arbeit war es, im Rahmen einer Pilotstudie die Myokardszintigraphie als mögliche Früherkennungsmethode zu evaluieren. PATIENTEN UND METHODIK: Es wurden bei insgesamt 50 kardial asymptomatischen Patienten mit einer Psoriasis der Haut verschiedene Begleiterkrankungen erfasst. Dabei kam zur Erkennung von kardialem Risiko/ belastungsinduzierter Ischämie die Myokardszintigraphie zum Einsatz...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Jiao Li, Yi Lu, Huiting Liang, Chunyan Tang, Lei Zhu, Jie Zhang, Renshi Xu
In order to searching the possible pathogenesis of amyotrophic lateral sclerosis (ALS), we examined the expression and distribution of FUS/TLS protein in the different anatomic regions, segments and neural cells of adult spinal cord at the different stages of the SOD1 wild-type and G93A transgenic mice using the fluorescent immunohistochemistry. Result revealed that, in the SOD1 wild-type mice, the FUS/TLS expression almost wasn't detected. However, in the SOD1 G93A mice, the FUS/TLS expression in the white matter was significantly more than that in the gray matter...
2016: International Journal of Biological Sciences
Tomoyuki Kawada, Nimish J Thakore, Erik P Pioro
No abstract text is available yet for this article.
October 11, 2016: Neurology
Giorgio Biasiotto, Silvana Archetti, Diego Di Lorenzo, Francesca Merola, Giulia Paiardi, Barbara Borroni, Antonella Alberici, Alessandro Padovani, Massimiliano Filosto, Cristian Bonvicini, Luigi Caimi, Isabella Zanella
Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length allele sizing is complicated by intrinsic properties of current PCR-based methodologies, in that somatic mosaicism could be suspected. We designed a protocol that allows the exact sizing of intermediate-length alleles, as well as the identification of large expansions...
October 17, 2016: Molecular and Cellular Probes
(no author information available yet)
Survival time after diagnosis with amyotrophic lateral sclerosis (ALS) is 10 months shorter, on average, for smokers than non-smokers, an Italian study has found.
October 12, 2016: Nursing Standard
Martin R Turner, Raph Goldacre, Kevin Talbot, Michael J Goldacre
It is recognized that neuropsychiatric conditions are over-represented in ALS patient kindreds and psychiatric symptoms may precede the onset of motor symptoms. Using a hospital record linkage database, hospitalization with a diagnosis of schizophrenia, bipolar disorder, depression or anxiety was significantly associated with a first diagnosis of ALS within the following year. This is likely to specifically reflect the clinicopathological overlap of ALS with frontotemporal dementia. A diagnosis of depression was significantly associated with a first record of ALS five or more years later, in keeping with growing evidence for major depressive disorder as an early marker of cerebral neurodegeneration...
October 19, 2016: Annals of Neurology
Karin N Wagner, Haikady Nagaraja, Dawn C Allain, Adam Quick, Stephen Kolb, Jennifer Roggenbuck
Although genetic testing for amyotrophic lateral sclerosis (ALS) is widely available, it is unknown what proportion of patients with ALS have access to genetic counseling and testing, and patient attitudes towards ALS genetic testing have not been studied. We conducted a national survey of ALS patients enrolled in the Agency for Toxic Substances and Disease Registry, which consisted of multiple choice questions and two 12 item Likert scale series assessing respondents' experience with and attitude toward genetic testing...
October 20, 2016: Journal of Genetic Counseling
Vittorio Govoni, Elena Della Coletta, Edward Cesnik, Ilaria Casetta, Enrico Granieri
Pathogenesis could play an important role in the mid- to late-life onset of symptoms in amyotrophic lateral sclerosis (ALS). An analysis of the age at onset of ALS among the incident cases occurring in the population in the Health District of Ferrara, Italy, in the period 1064-2009 was carried out. Two subsequent 23-year time intervals (1964-1986 and 1987-2009) were considered. The mean age at onset (MAAO) was estimated in relation to gender, onset type and area of residence (urban or extra-urban) at disease onset among the incident cases which occurred in the two subsequent time intervals...
October 19, 2016: Acta Neurologica Belgica
Klaus Kopitzki, Andreas Oldag, Catherine M Sweeney-Reed, Judith Machts, Maria Veit, Jörn Kaufmann, Hermann Hinrichs, Hans-Jochen Heinze, Katja Kollewe, Susanne Petri, Bahram Mohammadi, Reinhard Dengler, Andreas R Kupsch, Stefan Vielhaber
PURPOSE: Aim of the present study was to investigate potential impairment of non-motor areas in amyotrophic lateral sclerosis (ALS) using near-infrared spectroscopy (NIRS) and diffusion tensor imaging (DTI). In particular, we evaluated whether homotopic resting-state functional connectivity (rs-FC) of non-motor associated cortical areas correlates with clinical parameters and disease-specific degeneration of the corpus callosum (CC) in ALS. MATERIAL AND METHODS: Interhemispheric homotopic rs-FC was assessed in 31 patients and 30 healthy controls (HCs) for 8 cortical sites, from prefrontal to occipital cortex, using NIRS...
2016: NeuroImage: Clinical
M Lu, D S Fan
Objective: To investigate whether or not the involvement degree of extensor and flexor muscles in patients with Kennedy's Disease (KD) was different by measuring the diameter of biceps and triceps brachii muscles using Magnetic Resonance Imaging (MRI). Methods: All the subjects were outpatients or hospitalized patients from Department of Neurology, the Third Hospital of Peking University, 2011-2015. Subjects included 30 KD patients and 30 amyotrophic lateral sclerosis (ALS) patients. The right upper arms of all subjects were examined by muscle MRI...
October 11, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Xiaoyu Zhuang, Bing Zhao, Shu Liu, Fengrui Song, Fengchao Cui, Zhiqiang Liu, Yunqi Li
Misfolding and aggregation of Cu, Zn superoxide dismutase (SOD1) is implicated in the etiology amyotrophic lateral sclerosis (ALS). The use of small molecules may stabilize the spatial structure of SOD1 dimer, thus preventing its dissociation and aggregation. In this study, "native" mass spectrometry (MS) was used to study the non-covalent interactions between SOD1 and flavonoid compounds. MS experiments were performed on a quadruple time-of-flight (Q-ToF) mass spectrometer with an electrospray ionization (ESI) source and T-wave ion mobility...
October 19, 2016: Analytical Chemistry
Gonçalo Nunes, Carla Adriana Santos, Miguel Grunho, Jorge Fonseca
BACKGROUND: Dysphagia is common in amyotrophic lateral sclerosis (ALS) and may result in malnutrition. Endoscopic gastrostomy (PEG) is recommended when oral feeding is unsafe. This work aims to assess the effectiveness and safety of PEG feeding on improving nutritional and prognostic parameters in ALS patients. METHODS: Observational and retrospective study using records from ALS patients referred for gastrostomy. Age, gender and mortality data were collected. NRS 2002, body mass index (BMI), serum albumin, transferrin and total cholesterol were recorded at the time of PEG (T0) and repeated after 3 months (T3)...
September 20, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
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