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Amyotrophic lateral sclerosis case report

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https://www.readbyqxmd.com/read/28641296/-commentary-on-the-article-healing-of-amyotrophic-lateral-sclerosis-a-case-report-by-mangelsdorf-et-al
#1
Johannes Naumann
No abstract text is available yet for this article.
June 16, 2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28641283/-healing-of-amyotrophic-lateral-sclerosis-a-case-report
#2
Inge Mangelsdorf, Harald Walach, Joachim Mutter
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease leading to death within 3-5 years in most cases. New approaches to treating this disease are needed. Here, we report a successful therapy. CASE REPORT: In a 49-year-old male patient suffering from muscle weakness and fasciculations, progressive muscular atrophy, a variant of ALS, was diagnosed after extensive examinations ruling out other diseases. Due to supposed mercury exposure from residual amalgam, the patient's teeth were restored...
June 12, 2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28591053/use-of-sugammadex-in-a-patient-with-progressive-muscular-atrophy-and-in-a-patient-with-amyotrophic-lateral-sclerosis-case-report
#3
Jae Hwa Yoo, Soon Im Kim, Sun Young Park, Mi Roung Jun, Yong Eun Kim, Hyoung June Kim
INTRODUCTION: We herein present 2 cases involving the combination of rocuronium and sugammadex in patients with motor neuron disease. The patients were a 54-year-old man with progressive muscular atrophy who underwent removal of internal fixators in the arm and leg, and a 66-year-old woman with amyotrophic lateral sclerosis who underwent skin grafting in the left lower leg. General anesthesia was induced with propofol, rocuronium, and remifentanil and maintained with desflurane and remifentanil...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28588549/amyotrophic-lateral-sclerosis-and-myasthenia-gravis-overlap-syndrome-a-review-of-two-cases-and-the-associated-literature
#4
Hongfei Tai, Liying Cui, Yuzhou Guan, Mingsheng Liu, Xiaoguang Li, Yan Huang, Jing Yuan, Dongchao Shen, Dawei Li, Feifei Zhai
OBJECTIVE: To describe the characteristics of patients with amyotrophic lateral sclerosis (ALS) and myasthenia gravis (MG) overlap syndrome and explore the relationship between the two diseases. METHODS: We conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describing ALS and MG overlap syndrome published through December 2016. We analyzed the clinical and neurophysiological characteristics of patients by groups according to strict diagnostic criteria...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28587920/-what-would-you-do-with-an-adult-patient-who-consults-due-to-head-muscle-weakness-and-has-dropped-head
#5
L Paino, N Blasco
The dropped head syndrome, whether due to muscle weakness, rigidity, or ankylosis, is not uncommon in the elderly. It is characterised by a "chin-on-chest" reducible kyphosis, which is secondary to head muscle debility. It may be associated with a neuromuscular group of diseases such as polymyositis, chronic Inflammatory demyelinating polyneuropathy, myasthenia gravis, amyotrophic lateral sclerosis, and inclusion-body myositis. Some cases associated with hypothyroidism and hyperparathyroidism have also been described...
June 3, 2017: Semergen
https://www.readbyqxmd.com/read/28585802/cu-zn-superoxide-dismutase-forms-amyloid-fibrils-under-near-physiological-quiescent-conditions-the-roles-of-disulfide-bonds-and-effects-of-denaturant
#6
M Ashhar I Khan, Michal Respondek, Sven Kjellstrom, Shashank Deep, Sara Linse, Mikael Akke
Cu/Zn superoxide dismutase (SOD1) forms intracellular aggregates that are pathological indicators of amyotrophic lateral sclerosis. A large body of research indicates that the entry point to aggregate formation is a monomeric, metal-ion free (apo), and disulfide-reduced species. Fibril formation by SOD1 in vitro has typically been reported only for harsh solvent conditions or mechanical agitation. Here we show that monomeric apo-SOD1 in the disulfide-reduced state forms fibrillar aggregates under near-physiological quiescent conditions...
June 6, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28522369/electroencephalographic-monitoring-during-sevoflurane-anaesthesia-in-an-amyotrophic-lateral-sclerosis-patient-with-locked-in-state
#7
Kazuko Hayashi, Ryuhei Araki, Akiko Tanaka
Recently, the cognitive abilities of patients with amyotrophic lateral sclerosis (ALS) have been found to be impaired along with the neurodegeneration of motor neurons. Electroencephalography (EEG) of end-stage ALS patients has reportedly shown specific features based on neuronal network modulations, differing from EEG of other patients with cognitive failure and dementia. However, EEG of end-stage ALS patients during anaesthesia has not yet been reported. A 64-year-old male ALS patient with locked-in state (LIS), supported by tracheostomy positive-pressure ventilation (TPPV) and enteral nourishment for 9years, underwent scheduled general anaesthesia for repair of a fractured mandible...
May 15, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28489755/kennedy-disease-with-difficulty-in-differential-diagnosis-a-case-report
#8
Yating Chen, Peng Luo, Zhongli Li, Hengping Hu, Duobin Wu, Tingting Xu, Xingzuo Wang, Haiting Xie
RATIONALE: Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically. PATIENT CONCERNS: We report a case of a 43-year-old male with progressive limb proximal weakness without family history. Physical examination showed gynecomastia, erectile dysfunction, bilateral tendon reflex and quadriceps weakness, and tongue muscle atrophy. DIAGNOSES: Laboratory examination found increased creatine kinase, impaired glucose tolerance, and abnormal lactic acid values...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28473922/dropped-head-and-man-in-barrel-syndrome-in-amyotrophic-lateral-sclerosis
#9
Rui Almeida, Ana Catarina Felix, Ana Luísa André, Hipólito Nzwalo
We report a case of progressive symmetric brachial weakness followed by cervical muscle weakness. The electromyogram confirmed the diagnosis of amyotrophic lateral sclerosis. After 3 years the patient remained able to walk unassisted and without significant bulbar manifestations or upper neuron signs. The concomitant presence of dropped head syndrome and man-in-barrel syndrome in an amyotrophic lateral sclerosis patient makes our case unique.
April 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28444311/expression-of-als-ftd-linked-mutant-ccnf-in-zebrafish-leads-to-increased-cell-death-in-the-spinal-cord-and-an-aberrant-motor-phenotype
#10
Alison L Hogan, Emily K Don, Stephanie L Rayner, Albert Lee, Angela S Laird, Maxinne Watchon, Claire Winnick, Ingrid S Tarr, Marco Morsch, Jennifer A Fifita, Serene Gwee, Isabel Formella, Elinor Hortle, Kristy Yuan, Mark P Molloy, Kelly L Williams, Garth A Nicholson, Roger S Chung, Ian P Blair, Nicholas J Cole
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal neurodegenerative disease characterised by the death of upper and lower motor neurons. Approximately 10% of cases have a known family history of ALS and disease-linked mutations in multiple genes have been identified. ALS-linked mutations in CCNF were recently reported, however the pathogenic mechanisms associated with these mutations are yet to be established. To investigate possible disease mechanisms, we developed in vitro and in vivo models based on an ALS-linked missense mutation in CCNF...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28421301/multiple-sclerosis-and-amyotrophic-lateral-sclerosis-a-human-leukocyte-antigen-challenge
#11
Vincenzo Dattola, Fausto Famà, Margherita Russo, Rocco Salvatore Calabrò, Anna Lisa Logiudice, Maria Grazia Grasso, Francesco Patti, Maria Buccafusca
Multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) are two different central nervous system pathology that, according to the most accredited hypotheses, recognize a different etiopathogenesis. The simultaneous occurrence of MS and ALS is quite unusual. To our knowledge, only three cases have been so far described by clinical, laboratory, and post-mortem studies. We report four new cases of this peculiar combination that have been observed and are herein described, included their human leukocyte antigen (HLA) profile studies...
April 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28410876/the-treatment-of-fatigue-by-non-invasive-brain-stimulation
#12
REVIEW
Jean-Pascal Lefaucheur, Moussa A Chalah, Alaa Mhalla, Ulrich Palm, Samar S Ayache, Veit Mylius
The use of non-invasive brain neurostimulation (NIBS) techniques to treat neurological or psychiatric diseases is currently under development. Fatigue is a commonly observed symptom in the field of potentially treatable pathologies by NIBS, yet very little data has been published regarding its treatment. We conducted a review of the literature until the end of February 2017 to analyze all the studies that reported a clinical assessment of the effects of NIBS techniques on fatigue. We have limited our analysis to repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS)...
April 11, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28384683/characterizing-18-years-of-the-death-with-dignity-act-in-oregon
#13
Charles Blanke, Michael LeBlanc, Dawn Hershman, Lee Ellis, Frank Meyskens
Importance: Numerous states have pending physician-aided dying (PAD) legislation. Little research has been done regarding use of PAD, or ways to improve the process and/or results. Objectives: To evaluate results of Oregon PAD, the longest running US program; to disseminate results; and to determine promising PAD research areas. Design, Setting, and Participants: A retrospective observational cohort study of 991 Oregon residents who had prescriptions written as part of the state's Death with Dignity Act...
April 6, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28381746/syndrome-of-inappropriate-antidiuretic-hormone-secretion-associated-with-amyotrophic-lateral-sclerosis-in-a-patient-developing-carbon-dioxide-narcosis
#14
Yui Inoue, Takaaki Murakami, Takeshi Nakamura, Kyohei Morita, Daita Kaneda, Ichizo Nishino, Tetsuya Hayashi, Yuya Shinoto, Tomonobu Hatoko, Tomoko Kato, Shin Yonemitsu, Seiji Muro, Shogo Oki
We report a rare case of syndrome of inappropriate antidiuretic hormone secretion (SIADH) associated with amyotrophic lateral sclerosis (ALS). A 69-year-old man was admitted to our hospital with sustained hyponatremia. Hyposmolality with elevated urinary osmolality and sodium excretion was observed, which indicated SIADH. The treatment for SIADH was challenging; the patient developed carbon dioxide narcosis, which led to the diagnosis of ALS. After the initiation of noninvasive positive-pressure ventilation, the patient's serum sodium concentration normalized and became stable...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28367949/an-early-history-of-japanese-amyotrophic-lateral-sclerosis-als-and-the-current-significance
#15
Koji Abe
The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS) and the current significance in comparison to previously known and newly found reports on Japanese ALS. After a preliminary case report of ALS by Masamichi Hirai on 1890, 2 completed reports were simultaneously published within 2 weeks of 1891 by Momojiro Nakamura and Zenjiro Inoue, followed by Eikichi Watanabe's report on 1892. After Shonosuke Hasegawa's and Hiroshi Kawahara's case reports on 1894-1896, Aihiko Sata first reported an autopsy case of ALS on 1897...
April 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28358904/neurotrophic-effects-of-progranulin-in-vivo-in-reversing-motor-neuron-defects-caused-by-over-or-under-expression-of-tdp-43-or-fus
#16
Babykumari P Chitramuthu, Denis G Kay, Andrew Bateman, Hugh P J Bennett
Progranulin (PGRN) is a glycoprotein with multiple roles in normal and disease states. Mutations within the GRN gene cause frontotemporal lobar degeneration (FTLD). The affected neurons display distinctive TAR DNA binding protein 43 (TDP-43) inclusions. How partial loss of PGRN causes TDP-43 neuropathology is poorly understood. TDP-43 inclusions are also found in affected neurons of patients with other neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and Alzheimer's disease. In ALS, TDP-43 inclusions are typically also immunoreactive for fused in sarcoma (FUS)...
2017: PloS One
https://www.readbyqxmd.com/read/28356084/conjugal-amyotrophic-lateral-sclerosis-a-case-report-from-scotland
#17
P M Fernandes, M R Macleod, A Bateman, S Abrahams, S Pal
BACKGROUND: Conjugal amyotrophic lateral sclerosis is rare, with significant effects on psychological and care needs. We report a case of conjugal amyotrophic lateral sclerosis disease from central Scotland. This case is particularly unusual as both patients were diagnosed within an 18-month period and experienced the disease simultaneously, with similar symptomatology and progression. CASE PRESENTATION: Patient A was a 71-year-old man who presented with unilateral arm weakness and wasting...
March 29, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28355414/retrospective-assessment-of-occupational-exposures-for-the-geneva-study-of-als-among-military-veterans
#18
Anila Bello, Susan R Woskie, Rebecca Gore, Dale P Sandler, Silke Schmidt, Freya Kamel
Objective: This paper describes the retrospective exposure assessment conducted to assess occupational exposures for the Genes and Environmental Exposures in Veterans (GENEVA) study, a case-control study investigating the joint contribution of genetics and environmental exposures to the risk of amyotrophic lateral sclerosis (ALS) among military veterans. Methods: Occupational histories for 1597 study participants collected as part of the GENEVA study were the basis for this retrospective exposure assessment...
April 1, 2017: Annals of Work Exposures and Health
https://www.readbyqxmd.com/read/28301478/retrotransposon-activation-contributes-to-neurodegeneration-in-a-drosophila-tdp-43-model-of-als
#19
Lisa Krug, Nabanita Chatterjee, Rebeca Borges-Monroy, Stephen Hearn, Wen-Wei Liao, Kathleen Morrill, Lisa Prazak, Nikolay Rozhkov, Delphine Theodorou, Molly Hammell, Josh Dubnau
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two incurable neurodegenerative disorders that exist on a symptomological spectrum and share both genetic underpinnings and pathophysiological hallmarks. Functional abnormality of TAR DNA-binding protein 43 (TDP-43), an aggregation-prone RNA and DNA binding protein, is observed in the vast majority of both familial and sporadic ALS cases and in ~40% of FTLD cases, but the cascade of events leading to cell death are not understood...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28291249/analysis-of-sod1-mutations-in-a-chinese-population-with-amyotrophic-lateral-sclerosis-a-case-control-study-and-literature-review
#20
QianQian Wei, QingQing Zhou, YongPing Chen, RuWei Ou, Bei Cao, YaQian Xu, Jing Yang, Hui-Fang Shang
Although the copper/zinc superoxide dismutase-1 (SOD1) gene has been identified in both familial ALS (FALS) and sporadic ALS (SALS), it has rarely been studied in Chinese patients with ALS, and there are few studies with large samples. This study sought to assess the prevalence of SOD1 mutations in Chinese ALS patients. We screened a cohort of 499 ALS patients (487 SALS and 12 FALS) from the Department of Neurology at the West China Hospital of Sichuan University and analyzed all coding exons of SOD1 by Sanger sequencing...
March 14, 2017: Scientific Reports
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