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https://www.readbyqxmd.com/read/30554355/heterogeneous-brain-fdg-pet-metabolic-patterns-in-patients-with-c9orf72-mutation
#1
Veronica Castelnovo, Silvia Paola Caminiti, Nilo Riva, Giuseppe Magnani, Vincenzo Silani, Daniela Perani
OBJECTIVE: The hexanucleotide repeat expansion in C9orf72 is an associated genetic cause in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In the "ALS/FTD" spectrum prevails clinical heterogeneity and an in vivo knowledge of the underling brain dysfunction in patients carrying C9orf72 mutation remain limited and only described at group level. The study aimed to assess the brain metabolic alterations characterizing patients with C9orf72 mutation using FDG-PET in single individuals...
December 15, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30553531/mutation-screening-of-slc52a3-c19orf12-and-tardbp-in-iranian-als-patients
#2
Marzieh Khani, Afagh Alavi, Hosein Shamshiri, Babak Zamani, Hosein Hassanpour, Mohammad Hossein Kazemi, Shahriar Nafissi, Elahe Elahi
Mutations in the same gene are sometimes the cause of different clinically diagnosed neurologic disorders; this emphasizes interrelationships between various neurologic diseases. In this light, we screened SLC52A3, which is the cause of Brown-Vialetto-Van Laere syndrome, and C19orf12, which is the cause of neurodegeneration with brain iron accumulation in 60 Iranian amyotrophic lateral sclerosis (ALS) patients without mutations in the 2 most important ALS-causing genes, SOD1 and C9orf72. To the best of our knowledge, neither SLC52A3 nor C19orf12 has been mutation-screened previously in ALS cohorts...
November 16, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/30552897/identification-of-a-circulating-mirna-signature-in-extracellular-vesicles-collected-from-amyotrophic-lateral-sclerosis-patients
#3
Daniel Saucier, Gabriel Wajnberg, Jeremy Roy, Annie-Pier Beauregard, Simi Chacko, Nicolas Crapoulet, Sébastien Fournier, Anirban Ghosh, Stephen M Lewis, Alier Marrero, Colleen O'Connell, Rodney J Ouellette, Pier Jr Morin
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated with the progressive death of motor neurons. Mean survival for a patient diagnosed with ALS is between 2 to 5 years. Early and efficient diagnosis of the various forms of ALS remains a significant challenge, resulting in a need to identify clinically-relevant biomarkers in readily accessible body fluids. microRNAs (miRNAs) are short, evolutionarily conserved non-coding RNA molecules involved in post-transcriptional regulation of gene expression that have received interest as disease biomarkers...
December 12, 2018: Brain Research
https://www.readbyqxmd.com/read/30552278/comparison-of-the-validity-of-checklist-assessment-in-cardiac-arrest-simulations-with-an-app-in-an-academic-hospital-in-taiwan-a-retrospective-observational-study
#4
Ming-Yuan Huang, Lu-Chih Kung, Sheng-Wen Hou, Yi-Kung Lee, Yung-Cheng Su
INTRODUCTION: Robust assessment is a crucial component in Advanced Cardiac Life Support (ACLS) training to determine whether participants have achieved learning objectives with little or no variation in their overall outcomes. This study aimed to evaluate resuscitation performance by real-time logs. We hypothesised that instructors may not be able to evaluate time-sensitive parameters, namely, chest compression fraction, time to initiating chest compression and time to initiating defibrillation accurately in a subjective manner...
December 14, 2018: BMJ Open
https://www.readbyqxmd.com/read/30552078/efficacy-of-a-parent-based-indicated-prevention-for-anorexia-nervosa-randomized-controlled-trial
#5
Corinna Jacobi, Kristian Hütter, Ulrike Völker, Katharina Möbius, Robert Richter, Mickey Trockel, Megan Jones Bell, James Lock, C Barr Taylor
BACKGROUND: Web-based preventive interventions can reduce risk and incidence of bulimia and binge eating disorders among young high-risk women. However, their specific effects on core symptoms of anorexia nervosa (AN) are rather weak. OBJECTIVE: The primary objective of this study was to evaluate the efficacy of an indicated, parent-based, Web-based preventive program Eltern als Therapeuten (E@T) in reducing risk factors and symptoms of AN. METHODS: Girls aged between 11 and 17 years were screened by selected risk factors and early symptoms of AN...
December 14, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/30551677/personalized-medicine-and-molecular-interaction-networks-in-amyotrophic-lateral-sclerosis-als-current-knowledge
#6
REVIEW
Stephen Morgan, Stephanie Duguez, William Duddy
Multiple genes and mechanisms of pathophysiology have been implicated in amyotrophic lateral sclerosis (ALS), suggesting it is a complex systemic disease. With this in mind, applying personalized medicine (PM) approaches to tailor treatment pipelines for ALS patients may be necessary. The modelling and analysis of molecular interaction networks could represent valuable resources in defining ALS-associated pathways and discovering novel therapeutic targets. Here we review existing omics datasets and analytical approaches, in order to consider how molecular interaction networks could improve our understanding of the molecular pathophysiology of this fatal neuromuscular disorder...
December 13, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/30551225/examination-of-the-complexation-ability-of-different-calixarene-derivatives-towards-223ra-racl2-in-a-hospital-radiopharmaceutical-laboratory
#7
Martin Freesmeyer, Wolfgang Weigand, Thomas Weisheit
AIM: In this contribution we investigated the potential transfer of an established method for the synthesis of 223 Ra-labelled calixarene complexes to a hospital radiopharmaceutical environment. For this purpose, commercially available [223 Ra]RaCl2 solution in pharmaceutical grade (Xofigo® ) was reacted with three calixarene derivatives. METHODS: A wellestablished two-phase extraction method using a two-phase solvent system was performed for complexation of the radium ions with calixarenes under slightly basic conditions...
December 2018: Nuklearmedizin. Nuclear Medicine
https://www.readbyqxmd.com/read/30551075/vestibular-dysfunction-as-cortical-damage-with-amyotrophic-lateral-sclerosis
#8
Kiyotaka Nakamagoe, Shiori Yamada, Rio Kawakami, Zenshi Miyake, Naoki Tozaka, Sho Okune, Hayato Takeda, Tadachika Koganezawa, Akira Tamaoka
BACKGROUND: Cortical damage in areas such as the frontal lobe is reported in amyotrophic lateral sclerosis (ALS). However, aside from executive dysfunction, the pathological significance of this cortical damage has yet to be clarified. The present study investigated the effects of cortical damage on vestibular function in ALS. METHODS: Subjects comprised 18 ALS patients and 18 age- and sex-matched healthy controls. Cold air caloric stimulation was performed in all subjects to induce vestibular nystagmus, which was analysed to evaluate vestibular function...
December 5, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30550541/phenotypic-variability-and-neuropsychological-findings-associated-with-c9orf72-repeat-expansions-in-a-bulgarian-dementia-cohort
#9
Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graff
BACKGROUND: The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the frequency of C9orf72 repeat expansions in a Bulgarian dementia cohort and to delineate the associated clinical features. METHODS AND FINDINGS: PCR-based assessments of the C9orf72 hexanucleotide repeat expansion in all study samples (including 82 FTD, 37 Alzheimer's disease (AD), and 16 other neurodegenerative/dementia disorder cases) were performed...
2018: PloS One
https://www.readbyqxmd.com/read/30550538/interventions-to-treat-cutaneous-leishmaniasis-in-children-a-systematic-review
#10
Andrés Uribe-Restrepo, Alexandra Cossio, Mayur M Desai, Diana Dávalos, María Del Mar Castro
BACKGROUND: Case management in children with cutaneous leishmaniasis (CL) is mainly based on studies performed in adults. We aimed to determine the efficacy and harms of interventions to treat CL in children. METHODS: We conducted a systematic review of clinical trials and cohort studies, assessing treatments of CL in children (≤12 years old). We performed structured searches in PubMed, CENTRAL, LILACS, SciELO, Scopus, the International Clinical Trials Registry Platform (ICTRP), clinicaltrials...
December 14, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/30550341/distinction-of-sporadic-and-familial-forms-of-als-based-on-mitochondrial-characteristics
#11
Jarosław Walczak, Grażyna Dębska-Vielhaber, Stefan Vielhaber, Jędrzej Szymański, Agata Charzyńska, Jerzy Duszyński, Joanna Szczepanowska
Bioenergetic failure, oxidative stress, and changes in mitochondrial morphology are common pathologic hallmarks of amyotrophic lateral sclerosis (ALS) in several cellular and animal models. Disturbed mitochondrial physiology has serious consequences for proper functioning of the cell, leading to the chronic mitochondrial stress. Mitochondria, being in the center of cellular metabolism, play a pivotal role in adaptation to stress conditions. We found that mitochondrial dysfunction and adaptation processes differ in primary fibroblasts derived from patients diagnosed with either sporadic or familial forms of ALS...
December 14, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/30548611/exploring-the-binding-interaction-of-the-by-product-of-maillard-reaction-5-hydroxymethyl-2-furaldehyde-with-calf-thymus-dna
#12
Zhisheng Zhou, Xing Hu, Guowen Zhang, Rui Wang, Deming Gong
BACKGROUND: 5-Hydroxymethyl-2-furaldehyde (5-HMF), a kind of by-product of Maillard reaction, usually existed in fried and baked food, it may cause potential harm to human body. Here, the interaction between 5-HMF and calf thymus DNA (ctDNA) under physiological buffer (pH 7.4) was studied using multispectroscopic methods combined with multivariate curve resolution-alternating least-squares (MCR-ALS) chemometrics and molecular simulation techniques. RESULTS: The concentration profiles and pure spectra of the three components (5-HMF, ctDNA and 5-HMF-ctDNA complex) were extracted from highly overlapping spectra by MCR-ALS analysis, which verified the formation of 5-HMF-ctDNA complex...
December 12, 2018: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/30548150/rational-structure-based-design-of-fluorescence-probes-for-amyloid-folds
#13
Julien Orts, Marielle Aulikki Wälti, Dhiman Ghosh, Silvia Campioni, Sven J Saupe, Roland Riek
Amyloid fibrils are pathological hallmark of various human diseases - including Parkinson's Alzheimer's, ALS, Prion diseases. Treatment of the amyloid diseases are hindered amongst other factors also due to timely detection and therefore, early detection of the amyloid fibrils would be beneficial for the treatment against these disorders. Here, we report a small molecular fluorescent probe that selectively recognize the fibrillar form of Amyloid beta(1-42), α-Synuclein, and HET-s(218-289) protein over their monomeric conformation...
December 11, 2018: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/30547800/using-automated-electronic-medical-record-data-extraction-to-model-als-survival-and-progression
#14
Alex G Karanevich, Luke J Weisbrod, Omar Jawdat, Richard J Barohn, Byron J Gajewski, Jianghua He, Jeffrey M Statland
BACKGROUND: To assess the feasibility of using automated capture of Electronic Medical Record (EMR) data to build predictive models for amyotrophic lateral sclerosis (ALS) outcomes. METHODS: We used an Informatics for Integrating Biology and the Bedside search discovery tool to identify and extract data from 354 ALS patients from the University of Kansas Medical Center EMR. The completeness and integrity of the data extraction were verified by manual chart review...
December 14, 2018: BMC Neurology
https://www.readbyqxmd.com/read/30547390/multiplex-pcr-for-the-rapid-detection-of-insulin-like-growth-factor-in-the-pacific-oyster-crassostrea-gigas-a-useful-indicator-for-growth-assessment
#15
Ji-Sung Moon, Youn Hee Choi
Insulin-like growth factor (IGF) expression plays a critical role in the endocrine regulation of proliferation, differentiation, and growth in shellfish as well as in fish. The Pacific oyster, Crassostrea gigas, is a significant aquaculture species that comprises a large percentage of the Korean shellfish industry; moreover, its growth is economically important in aquaculture. However, when measuring the growth rate in shellfish, the soft tissue weight is difficult to determine because of the shell weight. In the present study, we describe an indirect method of measuring the growth rate using multiplex polymerase chain reaction (PCR) and analyzing levels of molluscan insulin-related peptide (MIP), the acid labile subunit of the IGF-binding protein complex (IGFBP ALS), and insulin-related peptide receptor (CIR) in Pacific oysters...
December 13, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/30547248/glucose-metabolic-brain-patterns-to-discriminate-amyotrophic-lateral-sclerosis-from-parkinson-plus-syndromes
#16
Martijn Devrome, Donatienne Van Weehaeghe, Joke De Vocht, Philip Van Damme, Koen Van Laere, Michel Koole
BACKGROUND: 18 F-FDG brain PET measures metabolic changes in neurodegenerative disorders and may discriminate between different diseases even at an early stage. The objective of this study was to classify patients with amyotrophic lateral sclerosis (ALS) and Parkinson plus syndromes (PP). To this end, different approaches were evaluated using generalized linear models and corresponding glucose metabolic brain patterns. Besides direct classification, healthy controls were also included to generate disease-specific metabolic brain patterns and to perform a classification using disease expression scores...
December 13, 2018: EJNMMI Research
https://www.readbyqxmd.com/read/30547044/do-tibial-eminence-fractures-and-anterior-cruciate-ligament-tears-have-similar-outcomes
#17
Heath P Melugin, Vishal S Desai, Christopher L Camp, Todd A Milbrandt, Diane L Dahm, Bruce A Levy, Michael J Stuart, Aaron J Krych
Background: Avulsion fractures involving the tibial eminence are considered equivalent in terms of the cause to anterior cruciate ligament (ACL) tears; however, there are limited data comparing the outcomes of adolescent patients undergoing surgical fixation of a tibial eminence fracture (TEF) with those undergoing ACL reconstruction. Purpose: To compare the clinical outcomes, subsequent ACL injury rates, and activity levels between adolescent patients who underwent TEF fixation with patients with midsubstance ACL tears who required acute reconstruction...
December 2018: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/30547042/effects-of-remnant-tissue-preservation-on-tunnel-enlargement-after-anatomic-double-bundle-anterior-cruciate-ligament-reconstruction-using-the-hamstring-tendon
#18
Tetsuro Masuda, Eiji Kondo, Jun Onodera, Nobuto Kitamura, Masayuki Inoue, Eiichi Nakamura, Tomonori Yagi, Norimasa Iwasaki, Kazunori Yasuda
Background: The effects of remnant tissue preservation on tunnel enlargement after anatomic double-bundle anterior cruciate ligament (ACL) reconstruction have not yet been established. Hypothesis: The preservation of ACL remnant tissue may significantly reduce the degree and incidence of tunnel enlargement after anatomic double-bundle ACL reconstruction, while the remnant-preserving procedure may not significantly increase the incidence of tunnel coalition after surgery...
December 2018: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/30546849/frontostriatal-grey-matter-atrophy-in-amyotrophic-lateral-sclerosis-a-visual-rating-study
#19
Ratko Radakovic, Vaisakh Puthusseryppady, Emma Flanagan, Matthew C Kiernan, Eneida Mioshi, Michael Hornberger
Amyotrophic lateral sclerosis (ALS) is characterised by frontostriatal grey matter changes similar to those in frontotemporal dementia (FTD). However, these changes are usually detected at a group level, and simple visual magnetic resonance imaging (MRI) cortical atrophy scales may further elucidate frontostriatal changes in ALS. Objective: To investigate whether frontostriatal changes are detectable using simple visual MRI atrophy rating scales applied at an individual patient level in ALS...
October 2018: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/30546295/downregulation-of-neuronal-and-dendritic-connexin36-made-electrical-synapses-without-glutamatergic-axon-terminals-in-spinal-anterior-horn-cells-from-the-early-stage-of-amyotrophic-lateral-sclerosis
#20
Yuko Kobayakawa, Katsuhisa Masaki, Ryo Yamasaki, Wataru Shiraishi, Shotaro Hayashida, Shintaro Hayashi, Koichi Okamoto, Takuya Matsushita, Jun-Ichi Kira
Connexin36 (Cx36) forms gap junctions between neurons, which are called electrical synapses, enabling adjacent neurons to communicate directly. The participation of chemical synapses in neurodegeneration in amyotrophic lateral sclerosis (ALS) has long been indicated, but it remains unclear whether electrical synapses are involved in the pathogenesis of ALS. We performed extensive immunopathological analyses using mutant superoxide dismutase 1 (SOD1G93A ) transgenic mice and their littermates to investigate whether Cx36-made electrical synapses are affected in motor neuron diseases...
2018: Frontiers in Neuroscience
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