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https://www.readbyqxmd.com/read/29621978/high-frequency-of-the-tardbp-p-m337-v-mutation-among-south-eastern-chinese-patients-with-familial-amyotrophic-lateral-sclerosis
#1
Guo-Rong Xu, Wei Hu, Ling-Ling Zhan, Chong Wang, Liu-Qing Xu, Min-Ting Lin, Wan-Jin Chen, Ning Wang, Qi-Jie Zhang
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease characterized by substantial clinical and genetic heterogeneity. Thus far, only a few TARDBP-ALS families have been reported in China, and no mutation analysis has been reported in south-eastern China. METHODS: Seven index cases from ALS families negative for SOD1 and FUS mutations were screened by Sanger sequencing for TARDBP gene exons 2-6. TARDBP exon 6 was analysed in 215 sporadic ALS patients...
April 5, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29603402/expression-of-crym-in-different-rat-organs-during-development-and-its-decreased-expression-in-degenerating-pyramidal-tracts-in-amyotrophic-lateral-sclerosis
#2
Reiji Hommyo, Satoshi O Suzuki, Nona Abolhassani, Hideomi Hamasaki, Masahiro Shijo, Norihisa Maeda, Hiroyuki Honda, Yusaku Nakabeppu, Toru Iwaki
The protein μ-crystallin (CRYM) is a novel component of the marsupial lens that has two functions: it is a key regulator of thyroid hormone transportation and a reductase of sulfur-containing cyclic ketimines. In this study, we examined changes of the expression pattern of CRYM in different rat organs during development using immunohistochemistry and immunoblotting. As CRYM is reportedly expressed in the corticospinal tract, we also investigated CRYM expression in human cases of amyotrophic lateral sclerosis (ALS) using immunohistochemistry...
March 30, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29590300/amyotrophic-lateral-sclerosis-and-exposure-to-diesel-exhaust-in-a-danish-cohort
#3
Aisha S Dickerson, Johnni Hansen, Ole Gredal, Marc G Weisskopf
Previous studies have suggested an increased risk of amyotrophic lateral sclerosis (ALS) and other motor neuron diseases for those in occupations commonly exposed to diesel exhaust (DE). In this study, we investigated the association between occupational exposures to DE and odds of ALS. ALS cases were identified from the Danish National Patient Registry 1982 to 2013 and individually matched to 100 controls per case based on birth year and sex. Using occupational history since 1964 from the Danish Pension Fund, Cumulative DE exposures were estimated using a job exposure matrix...
March 24, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29577934/selective-spatio-temporal-vulnerability-of-central-nervous-system-neurons-to-pathological-tar-dna-binding-protein-43-in-aged-transgenic-mice
#4
Annika van Hummel, Gabriella Chan, Julia van der Hoven, Marco Morsch, Stefania Ippati, Lisa Suh, Mian Bi, Prita R Asih, Wei Siang Lee, Troy A Butler, Magdalena Przybyla, Glenda M Halliday, Olivier Piguet, Matthew C Kiernan, Roger S Chung, Lars M Ittner, Yazi D Ke
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing and fatal disease characterized by muscular atrophy due to loss of upper and lower motor neurons. Histopathologically, the majority of ALS cases present with abnormal cytoplasmic accumulation and aggregation of the nuclear RNA-regulating protein TAR DNA-binding protein 43 (TDP-43). Pathogenic mutations in the TARDBP gene that encodes TDP-43 have been identified in familial ALS. We have previously reported transgenic mice with neuronal expression of human TDP-43 carrying the pathogenic A315T mutation (iTDP-43A315T mice), presenting with early-onset motor deficits in adolescent animals...
March 22, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29558868/identification-of-compound-heterozygous-variants-in-optn-in-an-als-ftd-patient-from-the-create-consortium-a-case-report
#5
Cyril Pottier, Evadnie Rampersaud, Matt Baker, Gang Wu, Joanne Wuu, Jacob L McCauley, Stephan Zuchner, Rebecca Schule, Christin Bermudez, Sumaira Hussain, Anne Cooley, Marielle Wallace, Jinghui Zhang, J Paul Taylor, Michael Benatar, Rosa Rademakers
Homozygous loss-of-function mutations in optineurin (OPTN) are a rare cause of amyotrophic lateral sclerosis (ALS), whereas heterozygous loss-of-function mutations have been suggested to increase ALS disease risk. We report a patient with ALS and frontotemporal dementia (FTD) from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium carrying compound heterozygous loss-of-function variants in OPTN. Quantitative real-time mRNA expression analyses revealed a 75-80% reduction in OPTN expression in blood in the OPTN carrier as compared to controls, suggesting at least partial nonsense-mediated decay of the mutant transcripts...
March 20, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29547678/characterization-of-patients-with-amyotrophic-lateral-sclerosis-attending-the-muscular-dystrophy-association-supported-clinics-in-puerto-rico
#6
Brenda Deliz, Kathya Ramos, Cynthia M Pérez
OBJECTIVE: To evaluate the sociodemographic characteristics and clinical and functional profile of amyotrophic lateral sclerosis (ALS) patients evaluated at Puerto Rico's Muscular Dystrophy Association-supported (MDA) clinics. METHODS: A retrospective review of 76 medical records of ALS patients evaluated at any of four MDA-sponsored clinics in Puerto Rico. RESULTS: The mean age of diagnosis was 57.4 ± 11.1 yrs. Most of the patients (52.3%) were women...
March 2018: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/29545601/tdp43-nuclear-export-and-neurodegeneration-in-models-of-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#7
Hilary C Archbold, Kasey L Jackson, Ayush Arora, Kaitlin Weskamp, Elizabeth M-H Tank, Xingli Li, Roberto Miguez, Robert D Dayton, Sharon Tamir, Ronald L Klein, Sami J Barmada
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive neurodegenerative disorders marked in most cases by the nuclear exclusion and cytoplasmic deposition of the RNA binding protein TDP43. We previously demonstrated that ALS-associated mutant TDP43 accumulates within the cytoplasm, and that TDP43 mislocalization predicts neurodegeneration. Here, we sought to prevent neurodegeneration in ALS/FTD models using selective inhibitor of nuclear export (SINE) compounds that target exportin-1 (XPO1)...
March 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29535673/impairment-in-respiratory-function-contributes-to-olfactory-impairment-in-amyotrophic-lateral-sclerosis
#8
René Günther, Wiebke Schrempf, Antje Hähner, Thomas Hummel, Martin Wolz, Alexander Storch, Andreas Hermann
Background: Nonmotor symptoms are very common in neurodegenerative diseases. In patients suffering from amyotrophic lateral sclerosis (ALS), olfactory dysfunction was first reported more than 20 years ago; however, its pathophysiological correlates and further implications remain elusive. Methods: In this so far largest case-control study, we analyzed olfactory performance with the "Sniffin' Sticks," a validated olfactory testing kit used in clinical routine...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29490503/characterization-of-the-c9orf72-gc-rich-low-complexity-sequence-in-two-cohorts-of-italian-and-turkish-als-cases
#9
Lucia Corrado, Cinzia Tiloca, Clarissa Locci, Alessandra Bagarotti, Hamid Hamzeiy, Claudia Colombrita, Fabiola De Marchi, Nadia Barizzone, Diego Cotella, Nicola Ticozzi, Letizia Mazzini, Ayse Nazli Basak, Antonia Ratti, Vincenzo Silani, Sandra D'alfonso
Large expansions of a noncoding GGGGCC repeat in the C9orf72 gene are the main cause of amyotrophic lateral sclerosis (ALS). The GGGGCC repeat is contiguous with another GC-rich region. Recent studies reported a significantly higher frequency of insertions/deletions within the GC-rich region in patients carrying the GGGGCC expansion. A GTGGT motif comprised within the GC-rich region, which joins two 100% GC sequences, was frequently deleted, supporting the hypothesis that these deletions could make the region more prone to slippage and pathological expansion...
February 28, 2018: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29483656/common-schizophrenia-alleles-are-enriched-in-mutation-intolerant-genes-and-in-regions-under-strong-background-selection
#10
Antonio F Pardiñas, Peter Holmans, Andrew J Pocklington, Valentina Escott-Price, Stephan Ripke, Noa Carrera, Sophie E Legge, Sophie Bishop, Darren Cameron, Marian L Hamshere, Jun Han, Leon Hubbard, Amy Lynham, Kiran Mantripragada, Elliott Rees, James H MacCabe, Steven A McCarroll, Bernhard T Baune, Gerome Breen, Enda M Byrne, Udo Dannlowski, Thalia C Eley, Caroline Hayward, Nicholas G Martin, Andrew M McIntosh, Robert Plomin, David J Porteous, Naomi R Wray, Armando Caballero, Daniel H Geschwind, Laura M Huckins, Douglas M Ruderfer, Enrique Santiago, Pamela Sklar, Eli A Stahl, Hyejung Won, Esben Agerbo, Thomas D Als, Ole A Andreassen, Marie Bækvad-Hansen, Preben Bo Mortensen, Carsten Bøcker Pedersen, Anders D Børglum, Jonas Bybjerg-Grauholm, Srdjan Djurovic, Naser Durmishi, Marianne Giørtz Pedersen, Vera Golimbet, Jakob Grove, David M Hougaard, Manuel Mattheisen, Espen Molden, Ole Mors, Merete Nordentoft, Milica Pejovic-Milovancevic, Engilbert Sigurdsson, Teimuraz Silagadze, Christine Søholm Hansen, Kari Stefansson, Hreinn Stefansson, Stacy Steinberg, Sarah Tosato, Thomas Werge, David A Collier, Dan Rujescu, George Kirov, Michael J Owen, Michael C O'Donovan, James T R Walters
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life and decreased life expectancy. Lack of progress in improving treatment outcomes has been attributed to limited knowledge of the underlying biology, although large-scale genomic studies have begun to provide insights. We report a new genome-wide association study of schizophrenia (11,260 cases and 24,542 controls), and through meta-analysis with existing data we identify 50 novel associated loci and 145 loci in total...
February 26, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29482216/association-of-serum-retinol-binding-protein-4-concentration-with-risk-for-and-prognosis-of-amyotrophic-lateral-sclerosis
#11
Angela Rosenbohm, Gabriele Nagel, Raphael S Peter, Torben Brehme, Wolfgang Koenig, Luc Dupuis, Dietrich Rothenbacher, Albert C Ludolph
Importance: Knowledge about the metabolic states of patients with amyotrophic lateral sclerosis (ALS) may provide a therapeutic approach. Objective: To investigate the association between the onset and prognosis of ALS and serum retinol-binding protein 4 (RBP4) concentration as a biomarker for insulin resistance and vitamin A metabolism. Design, Setting, and Participants: Case-control design for risk factors of ALS; cohort design for prognostic factors within ALS cases...
February 26, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29456900/a-barium-swallow-study-leading-to-an-incidental-finding-on-a-screening-colonoscopy
#12
Patricia Guzman Rojas, Chirin Orabi, Glenn Speth
Barolith is a mixture of firm feces with barium sulfate, and a frequent cause of obstruction of the appendiceal lumen that can result in appendicitis. Nonetheless, some other complications like aspiration, allergic reaction, and bowel obstruction have also been reported.  We present the case of a 71-year-old man with a history of amyotrophic lateral sclerosis (ALS), who came to the gastroenterology clinic complaining of intermittent loose stools and dysphagia to solids for the past months. The patient underwent a barium swallow study six days prior and was completely normal...
December 7, 2017: Curēus
https://www.readbyqxmd.com/read/29448993/adjacent-level-spondylodiscitis-in-a-patient-with-thoracic-spondylodiscitis-a-case-report-and-review-of-the-literature
#13
K Farah, T Graillon, H Dufour, S Fuentes
INTRODUCTION: Adjacent level spondylodiscitis (ALS) after primary surgery for thoracic spondylodiscitis is a very rare condition. CASE REPORT: We report the case of a 76-year-old man with this pathology. A first posterior minimally invasive approach combined with anterior approach to the thoracic spine was safely performed for thoracic spondylodiscitis. More than a year later, exploration of recurrent symptoms with 18 FDG PET scan helped to diagnose ALS. Further surgery was performed...
February 12, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29445325/biomarkers-of-amyotrophic-lateral-sclerosis-current-status-and-interest-of-oxysterols-and-phytosterols
#14
REVIEW
Anne Vejux, Amira Namsi, Thomas Nury, Thibault Moreau, Gérard Lizard
Amyotrophic lateral sclerosis (ALS) is a non-demyelinating neurodegenerative disease in adults with motor disorders. Two forms exist: a sporadic form (90% of cases) and a family form due to mutations in more than 20 genes including the Superoxide dismutase 1, TAR DNA Binding Protein, Fused in Sarcoma, chromosome 9 open reading frame 72 and VAPB genes. The mechanisms associated with this pathology are beginning to be known: oxidative stress, glutamate excitotoxicity, protein aggregation, reticulum endoplasmic stress, neuroinflammation, alteration of RNA metabolism...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29434138/amyotrophic-lateral-sclerosis-after-receiving-the-human-papilloma-virus-vaccine-a-case-report-of-a-15-year-old-girl
#15
Ryota Hikiami, Hodaka Yamakado, Shinsui Tatsumi, Takashi Ayaki, Yuichiro Hashi, Hirofumi Yamashita, Nobukatsu Sawamoto, Teruyuki Tsuji, Makoto Urushitani, Ryosuke Takahashi
We herein report a 15-year-old girl who developed rapid progressive muscle weakness soon after the third injection of a bivalent human papilloma virus (HPV) vaccine. Although immunotherapies were performed for possible vaccine-related disorders, she died of respiratory failure 14 months after the onset of the disease. A genetic analysis identified a heterozygous p.P525L mutation of the fused in sarcoma (FUS) gene, and a histopathological analysis was also consistent with FUS-associated amyotrophic lateral sclerosis (ALS) without any evidence of neuroinflammation...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29425472/the-use-of-field-triage-in-disaster-and-mass-casualty-incidents-a-survey-of-current-practices-by-ems-personnel
#16
Kevin Ryan, Douglas George, James Liu, Patricia Mitchell, Kerrie Nelson, Ricky Kue
BACKGROUND: Mass casualty incident (MCI) triage and the use of triage tags to assign treatment priorities are not fully implemented despite emergency medical services (EMS) personnel training during drills and exercises. OBJECTIVES: To compare current field triage practices during both training and actual MCIs and identify any potential barriers to use. METHODS: During training sessions from November 2015 through March 2016, an anonymous survey was distributed to personnel in 3 distinct types of paid full-time EMS systems: Boston EMS (2-tiered, municipal third-service); Portland Fire Department (fire department-based ALS); and Stokes County EMS (county-based ALS) combined with Forsyth County EMS (county-based ALS)...
February 9, 2018: Prehospital Emergency Care
https://www.readbyqxmd.com/read/29399022/edematous-hyponatremia-treated-with-tolvaptan-in-a-patient-with-amyotrophic-lateral-sclerosis
#17
Gheun-Ho Kim
Amyotrophic lateral sclerosis (ALS) patients rarely present with either syndrome of inappropriate antidiuretic hormone secretion or generalized edema. Tolvaptan is a selective vasopressin V2 receptor antagonist that produces effective aquaresis, and its use in ALS patients has not been previously reported. A 50-year-old male ALS patient was admitted because of both generalized edema and dilutional hyponatremia. These manifestations were refractory to conventional diuretics and fluid therapy, but a very brisk diuresis was induced by tolvaptan administration...
December 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29398120/screening-of-gle1-mutations-in-chinese-amyotrophic-lateral-sclerosis-patients
#18
Kang Zhang, Qing Liu, Dongchao Shen, Hongfei Tai, Hanhui Fu, Shuangwu Liu, Jinyi Chen, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui
Amyotrophic lateral sclerosis (ALS) is a lethal neurological disease primarily involving the spinal cord, brainstem, and corticospinal tract. Recently, mutations in the GLE1 gene were reported in Caucasian ALS patients. To inquire whether Chinese ALS patients carried causal mutations in the gene, we screened all 16 coding exons of GLE1 with Sanger sequencing in a Han Chinese cohort of 250 ALS cases. No nonsynonymous coding variants were detected. Our results suggest that pathogenic variants in the GLE1 gene are rare in Chinese ALS patients...
January 5, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29370934/mutation-analysis-of-the-tia1-gene-in-chinese-patients-with-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#19
Zhenhua Yuan, Bin Jiao, Lihua Hou, Tingting Xiao, Xixi Liu, Junling Wang, Jun Xu, Lin Zhou, Xinxiang Yan, Beisha Tang, Lu Shen
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive loss of motor neurons in the brain and spinal cord. Frontotemporal dementia (FTD) is a group of dementia syndromes characterized by the progressive deterioration of behaviors, executive dysfunction, and verbal impairment. Increasing evidence indicates that these 2 diseases share a common genetic etiology and pathophysiological mechanism. Recently, rare mutations in the low-complexity domain of the RNA-binding protein T-cell-restricted intracellular antigen-1 (TIA1) gene were identified in Caucasian ALS and ALS-FTD patients...
April 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29349657/association-between-tbk1-mutations-and-risk-of-amyotrophic-lateral-sclerosis-frontotemporal-dementia-spectrum-a-meta-analysis
#20
Rongrong Cui, Miao Tuo, Pengfei Li, Chang Zhou
Recently, mutations in TBK1 (TANK-binding kinase 1) have been reported to be a cause of amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) spectrum, but the relationship between them remains unclear owing to the small sample size and low mutation rate. Therefore, we performed a two-stage meta-analysis to investigate the frequency of TBK1 mutations in ALS/FTD patients and the association between the mutations and risk of ALS/FTD spectrum. In the first stage, 12 studies involving 4173 ALS/FTD patients were included...
January 18, 2018: Neurological Sciences
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