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Amyotrophic lateral sclerosis case report

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https://www.readbyqxmd.com/read/29210726/baclofen-pump-replacement-in-a-patient-with-end-stage-amyotrophic-lateral-sclerosis-a-case-report-demonstrating-transversus-abdominis-plane-block-as-the-sole-anesthetic
#1
Iman A Hadaya, Andrew T Gray, Matthias R Braehler
A patient with end-stage amyotrophic lateral sclerosis (ALS) presented for Baclofen pump replacement. She underwent a left transversus abdominis plane block to anesthetize the left lower quadrant of the abdomen. No sedatives or analgesics were administered, and the procedure was successfully completed without complication. It is prudent to consider anesthetic plans that avoid complications associated with general or neuraxial anesthesia in patients with ALS. This case report demonstrates successful placement of a transversus abdominis plane block in a patient with ALS and offers a safe anesthetic technique that can be performed in other high-risk patients...
November 27, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29187690/-treatment-for-paroxysmal-sympathetic-hyperactivity-in-amyotrophic-lateral-sclerosis-patient
#2
Katsunori Yokoi, Tetsuo Ando, Sawao Ishikawa
We report a case of an 80-year-old man who contracted amyotrophic lateral sclerosis (ALS) 15 years ago, was put on a ventilator 8 years ago, and became locked in 3 years ago. Two years ago, he began to suffer from sudden symptoms of paroxysmal sympathetic hyperactivity (PSH) attacks (hot flushes, abnormal sweating, tachycardia, and increased blood pressure). One day, he developed multiple-organ failure. This failure healed in a few days, but PSH attacks remained. His catecholamine levels were abnormal: adrenaline, 215 pg/ml; noradrenaline, 5,960 pg/ml; and dopamine, 606 pg/ml...
November 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29182055/amyotrophic-lateral-sclerosis-presenting-as-the-temporomandibular-disorder-a-case-report-and-literature-review
#3
Wen-Juh Hwang, Kevin Huang, Jehn-Shyun Huang
BACKGROUND: Spasticity and pain in the masticatory muscles or mouth opening limitation have been reported as early signs and symptoms of amyotrophic lateral sclerosis (ALS). These signs and symptoms are also frequently seen in, and thus mistaken for, temporomandibular disorders (TMD). CLINICAL PRESENTATION: The authors report a case of ALS initially presenting with signs and symptoms of TMD. The TMD was followed by dysarthria of insidious onset, leading to the diagnosis of ALS...
November 28, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/29166782/screening-for-the-c9orf72-repeat-expansion-in-a-greek-frontotemporal-dementia-cohort
#4
Chrisoula Kartanou, Georgia Karadima, Georgios Koutsis, Marianthi Breza, Sokratis G Papageorgiou, George P Paraskevas, Elisabeth Kapaki, Marios Panas
The C9orf72 repeat expansion is a common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in European populations. A previous study has reported a high frequency of the expansion in Greek ALS. However, no data have been reported on the frequency of the expansion in Greek FTD. Currently, we investigated the frequency of the C9orfF72 expansion in a well-characterized cohort of 64 Greek FTD patients. We detected the C9orf72 repeat expansion in 9.3% of cases. Overall, 27.7% of familial and 2...
November 23, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29149916/whole-exome-sequencing-in-amyotrophic-lateral-sclerosis-suggests-nek1-is-a-risk-gene-in-chinese
#5
Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris, Anjali K Henders, Zi-Bing Jin, Zhongshan Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Bryan J Mowry, Shu Ran, David C Reutens, Sharon Song, Li-Jun Tan, Lu Tang, Robyn H Wallace, Lawrie Wheeler, Jinyu Wu, Jian Yang, Huji Xu, Peter M Visscher, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding of disease aetiology, with median survival of ALS of three years and no effective treatment. Identifying genes that contribute to ALS susceptibility is an important step towards understanding aetiology. The vast majority of published human genetic studies, including for ALS, have used samples of European ancestry...
November 17, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29142524/a-case-of-celiac-disease-with-neurologic-manifestations-misdiagnosed-as-amyotrophic-lateral-sclerosis
#6
Hyoju Ham, Bo-In Lee, Hyun Jin Oh, Se Hwan Park, Jin Su Kim, Jae Myung Park, Young Seok Cho, Myung-Gyu Choi
Celiac disease (CD) is an immune-mediated enteropathy and is a rare disease in Asia, including in Korea. However, the ingestion of wheat products, which can act as a precipitating factor of CD, has increased rapidly. CD is a common cause of malabsorption, but many patients can present with various atypical manifestations as first presented symptoms, including anemia, osteopenia, infertility, and neurological symptoms. Thus, making a diagnosis is challenging. We report a case of CD that mimicked amyotrophic lateral sclerosis (ALS)...
October 2017: Intestinal Research
https://www.readbyqxmd.com/read/29128563/matrin-3-is-a-component-of-neuronal-cytoplasmic-inclusions-of-motor-neurons-in-sporadic-amyotrophic-lateral-sclerosis
#7
Mikiko Tada, Hiroshi Doi, Shigeru Koyano, Shun Kubota, Ryoko Fukai, Shunta Hashiguchi, Noriko Hayashi, Yuko Kawamoto, Misako Kunii, Kenichi Tanaka, Keita Takahashi, Yuki Ogawa, Ryo Iwata, Shoji Yamanaka, Hideyuki Takeuchi, Fumiaki Tanaka
Mutations in the matrin 3 (MATR3) gene have been identified as a cause of familial amyotrophic lateral sclerosis, but the involvement of MATR3 protein in sporadic amyotrophic lateral sclerosis (SALS) pathology has not been fully assessed. Here, we immunohistochemically analyzed MATR3 pathology in the spinal cords of SALS and control autopsies. MATR3 immunostaining of the motor neuron nuclei revealed two distinct patterns, mild and strong staining. There were no differences in the ratio of mild versus strong nuclear staining between the SALS and control cases...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29125194/amyotrophic-lateral-sclerosis-a-case-report-and-mechanistic-review-of-the-association-with-toluene-and-other-volatile-organic-compounds
#8
Marcia H Ratner, Joe F Jabre, William M Ewing, Mohamed Abou-Donia, L Christine Oliver
Unmasking of latent neurodegenerative disease has been reported following exposure to chemicals that share one or more mechanisms of action in common with those implicated in the specific disease. For example, unmasking of latent Parkinson's disease (PD) has been associated with exposure to anti-dopaminergic agents, while the progression of pre-existing mild cognitive impairment and unmasking of latent Alzheimer's disease has been associated with exposure to general anesthetic agents which promote Aβ protein aggregation...
November 10, 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/29095328/c9orf72-intermediate-repeat-expansion-in-a-patient-with-psychiatric-disorders-and-progressive-cerebellar-ataxia
#9
Mario Meloni, Rita Farris, Paolo Solla, Marcello M Mascia, Francesco Marrosu, Antonino Cannas
INTRODUCTION: Large expansions of the noncoding GGGGCC repeat (more than 30) in the first intron of the C9ORF72 gene have been demonstrated to cause amyotrophic lateral sclerosis and frontotemporal dementia. Recent papers have investigated the possible pathogenic role and associated clinical phenotypes of hexanucleotide expansions with intermediate repeat lengths ranging between 20 and 29 repeats. CASE REPORT: We report a case of a 71-year-old Sardinian female patient with a long history of psychiatric disorders such as mixed anxiety-depressive disorder associated with somatization disorder and histrionic personality who developed a slowly progressive cerebellar syndrome, mild cognitive impairment, pyramidal signs, and rapid eye movement sleep behavior disorder with imaging abnormalities on the DaTSCAN single-photon emission computed tomography indicating an alteration in the presynaptic dopaminergic system...
November 2017: Neurologist
https://www.readbyqxmd.com/read/29090256/pulseless-electrical-activity-during-general-anesthesia-induction-in-patients-with-amyotrophic-lateral-sclerosis
#10
Tae Min You, Seungoh Kim
Pulseless electrical activity (PEA) is a clinical condition characterized by unresponsiveness and lack of palpable pulse in the presence of organized cardiac electrical activity and is caused by a profound cardiovascular insult (e.g., severe prolonged hypoxia or acidosis, extreme hypovolemia, or flow-restricting pulmonary embolus). Amyotrophic lateral sclerosis (ALS) is a disease that is characterized by progressive degeneration of all levels of the motor nervous system. Damage to the respiratory system and weakness of the muscles may increase the likelihood of an emergency situation occurring in patients with ALS while under general anesthesia...
September 2017: Journal of dental anesthesia and pain medicine
https://www.readbyqxmd.com/read/29070749/a-amyotrophic-lateral-sclerosis-als-4-family-misdiagnosed-as-hereditary-spastic-paraplegia-a-case-report
#11
Takaki Taniguchi, Youichi Hokezu, Takashi Okada, Masato Ishibashi, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima
We report a 44 years old man with slowly progressive muscular atrophy of the extremities for over 30 years. He experienced difficulty in walking in his 10's and was diagnosed as hereditary spastic paraplegia (HSP) in his 20's. And then, muscle atrophy of the extremities slowly progressed especially in his distal muscles. Sensory axonal neuropathy was detected with sural nerve biopsy. His father and uncle have been diagnosed as HSP in their early days. His father noticed weakness of his leg in his 20's. He lost motor function of the leg in his 60's...
October 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29069620/propofol-protects-rat-hypoglossal-motoneurons-in-an-in-vitro-model-of-excitotoxicity-by-boosting-gabaergic-inhibition-and-reducing-oxidative-stress
#12
Filippo Ghezzi, Laura Monni, Silvia Corsini, Rossana Rauti, Andrea Nistri
In brainstem motor networks, hypoglossal motoneurons (HMs) play the physiological role of driving tongue contraction, an activity critical for inspiration, phonation, chewing and swallowing. HMs are an early target of neurodegenerative diseases like amyotrophic lateral sclerosis that, in its bulbar form, is manifested with initial dysphagia and dysarthria. One important pathogenetic component of this disease is the high level of extracellular glutamate due to uptake block that generates excitotoxicity. To understand the earliest phases of this condition we devised a model, the rat brainstem slice, in which block of glutamate uptake is associated with intense bursting of HMs, dysmetabolism and death...
October 22, 2017: Neuroscience
https://www.readbyqxmd.com/read/29049464/clustering-of-neuropsychiatric-disease-in-first-degree-and-second-degree-relatives-of-patients-with-amyotrophic-lateral-sclerosis
#13
Margaret O'Brien, Tom Burke, Mark Heverin, Alice Vajda, Russell McLaughlin, John Gibbons, Susan Byrne, Marta Pinto-Grau, Marwa Elamin, Niall Pender, Orla Hardiman
Importance: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative condition primarily involving the motor system. There is increasing epidemiologic evidence of an association between ALS and a wider spectrum of neurodegenerative and neuropsychiatric disorders among family members, including schizophrenia and psychotic illness and suicidal behavior. Objective: To examine the frequency and range of neuropsychiatric conditions that occur within individual first-degree and second-degree relatives of patients with ALS...
October 16, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28952073/cysteine-to-serine-conversion-at-111th-position-renders-the-disaggregation-and-retains-the-stabilization-of-detrimental-sod1-a4v-mutant-against-amyotrophic-lateral-sclerosis-in-human-a-discrete-molecular-dynamics-study
#14
E Srinivasan, R Rajasekaran
Protein aggregation is a hallmark of various neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) in humans. Mutations in Cu/Zn superoxide dismutase (SOD1) protein were found to be a prominent cause behind the majority of the familial ALS cases with abnormal protein aggregates. Herein, we report the biophysical characterization of the beneficial mutation C111S that stabilizes the SOD1 harboring A4V mutation, one of the most lethal diseases causing mutant that leads to protein destabilization and aggregation...
September 26, 2017: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28931804/cross-ethnic-meta-analysis-identifies-association-of-the-gpx3-tnip1-locus-with-amyotrophic-lateral-sclerosis
#15
Beben Benyamin, Ji He, Qiongyi Zhao, Jacob Gratten, Fleur Garton, Paul J Leo, Zhijun Liu, Marie Mangelsdorf, Ammar Al-Chalabi, Lisa Anderson, Timothy J Butler, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Matthew Devine, Janette Edson, Jennifer A Fifita, Sarah Furlong, Ying-Ying Han, Jessica Harris, Anjali K Henders, Rosalind L Jeffree, Zi-Bing Jin, Zhongshan Li, Ting Li, Mengmeng Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Emily P McCann, Bryan J Mowry, Shyuan T Ngo, Roger Pamphlett, Shu Ran, David C Reutens, Dominic B Rowe, Perminder Sachdev, Sonia Shah, Sharon Song, Li-Jun Tan, Lu Tang, Leonard H van den Berg, Wouter van Rheenen, Jan H Veldink, Robyn H Wallace, Lawrie Wheeler, Kelly L Williams, Jinyu Wu, Xin Wu, Jian Yang, Weihua Yue, Zong-Hong Zhang, Dai Zhang, Peter G Noakes, Ian P Blair, Robert D Henderson, Pamela A McCombe, Peter M Visscher, Huji Xu, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,234 ALS cases and 2,850 controls...
September 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28926091/functional-role-of-mesenchymal-stem-cells-in-the-treatment-of-chronic-neurodegenerative-diseases
#16
REVIEW
Debora Lo Furno, Giuliana Mannino, Rosario Giuffrida
Mesenchymal stem cells (MSCs) can differentiate into not only cells of mesodermal lineages, but also into endodermal and ectodermal derived elements, including neurons and glial cells. For this reason, MSCs have been extensively investigated to develop cell-based therapeutic strategies, especially in pathologies whose pharmacological treatments give poor results, if any. As in the case of irreversible neurological disorders characterized by progressive neuronal death, in which behavioral and cognitive functions of patients inexorably decline as the disease progresses...
September 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#17
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28913488/bilateral-thoracic-paravertebral-nerve-blocks-for-placement-of-percutaneous-radiologic-gastrostomy-in-patients-with-amyotrophic-lateral-sclerosis-a-case-series
#18
Arun Kalava, Steven Clendenen, J Mark McKinney, Elird Bojaxhi, Roy A Greengrass
BACKGROUND AND AIMS: To assess the efficacy of bilateral thoracic paravertebral nerve blocks (PVB) in providing procedural anesthesia and post-procedural analgesia for placement of percutaneous radiologic gastrostomy tubes (PRG) in patients with amyotrophic lateral sclerosis (ALS). METHODS: We prospectively observed 10 patients with ALS scheduled for PRG placement that had bilateral thoracic PVBs at thoracic 7, 8, and 9 levels with administration of a mixture of 3 mL of 1% ropivacaine, 0...
October 2016: Romanian Journal of Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/28890043/a-migration-case-of-kii-amyotrophic-lateral-sclerosis-parkinsonism-dementia-complex-with-the-shortest-stay-in-the-endemic-area-and-the-longest-incubation-to-develop-the-disease
#19
Keiichiro Tsunoda, Toru Yamashita, Hitoshi Shimada, Emi Nomura, Yoshiaki Takahashi, Jingwei Shang, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Makoto Higuchi, Tetsuya Suhara, Yasumasa Kokubo, Shigeki Kuzuhara, Koji Abe
Amyotrophic lateral sclerosis/parkinsonism dementia complex (ALS/PDC) is an endemic disease observed in the Kii peninsula, Guam, and Papua. We report a case of a 76-year old man with ALS/PDC of the Kii peninsula of Japan (Kii ALS/PDC). The patient was born and grew up in the Kii peninsula. He moved out at age three, and developed symptoms 73years later. He showed pyramidal sign, parkinsonian symptoms, and mildly impaired cognitive function. (131)I-metaiodobenzylguanidine myocardial scintigraphy showed decreased cardiac sympathetic nerve function, and dopamine transporter single photon emission computed tomography imaging showed decreased (123)I-N-ω-fluoropropyl-2β-carbomethoxy3β-(4-iodophenyl) nortropane accumulation...
December 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28834910/application-of-different-ventilator-modes-in-patients-with-amyotrophic-lateral-sclerosis-according-to-certain-clinical-situations-a-case-report
#20
Donghwi Park
RATIONALE: Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease that involves limb, axial, bulbar, and respiratory muscles. Fatigue and weakness of the respiratory muscles eventually induce respiratory insufficiency, which is one of the main causes of death in patients with ALS. In ALS patients with respiratory insufficiency, application of a ventilator is indispensable. Although there are various modes of ventilation, these modes are classified roughly into volume-controlled ventilation (VCV) and pressure-controlled ventilation (PCV)...
August 2017: Medicine (Baltimore)
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