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Amyotrophic lateral sclerosis case report

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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
#1
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/29400298/neuroprotective-effects-of-lithium-what-are-the-implications-in-humans-with-neurodegenerative-disorders
#2
Élise Morlet, Franz Hozer, Jean-François Costemale-Lacoste
Lithium is used as a first line treatment in bipolar disorder. The neuroprotective effects of lithium in this indication tend to be well known and are mediated by its action on two enzymes: glycogen synthase kinase-3 and inositol monophosphatase-1. Preclinical and clinical studies seek to evaluate the neuroprotective effect of lithium in neurodegenerative disorders. The aims of this literature review is to gather clinical studies that investigated the efficacy of lithium in neurodegenerative diseases, using a systematic method based on PubMed data...
February 5, 2018: Gériatrie et Psychologie Neuropsychiatrie du Vieillissement
https://www.readbyqxmd.com/read/29399022/edematous-hyponatremia-treated-with-tolvaptan-in-a-patient-with-amyotrophic-lateral-sclerosis
#3
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
#4
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
#5
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...
December 27, 2017: 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
#6
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
https://www.readbyqxmd.com/read/29340258/atypical-initial-presentation-of-painful-muscle-cramps-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report-and-brief-review-of-the-literature
#7
Aaron R Kuzel, Muhammad Uzair Lodhi, Intekhab Askari Syed, Mustafa Rahim
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis...
November 10, 2017: Curēus
https://www.readbyqxmd.com/read/29324454/using-the-capture-recapture-method-to-estimate-the-incidence-of-amyotrophic-lateral-sclerosis-in-beijing-china
#8
Shenghan Zhou, Silin Qian, Xiaohan Li, Liping Zheng, Wenbing Chang, Liping Wang
BACKGROUND: To assess the total, gender-related and ageing process-related incidence rates of amyotrophic lateral sclerosis (ALS) in Beijing, China. Determine whether the decreased male to female ratio among postmenopausal age groups. METHODS: We used the 2-source capture-recapture method to estimate the incidence of ALS in Beijing. The primary and secondary data sources were from diagnostic hospitals and assisted care institutions in the same area from 2010 to 2015...
January 11, 2018: Neuroepidemiology
https://www.readbyqxmd.com/read/29284475/existential-decision-making-in-a-fatal-progressive-disease-how-much-do-legal-and-medical-frameworks-matter
#9
Christian Weber, Barbara Fijalkowska, Katarzyna Ciecwierska, Anna Lindblad, Gisela Badura-Lotter, Peter M Andersen, Magdalena Kuźma-Kozakiewicz, Albert C Ludolph, Dorothée Lulé, Tomasz Pasierski, Niels Lynöe
BACKGROUND: Healthcare legislation in European countries is similar in many respects. Most importantly, the framework of informed consent determines that physicians have the duty to provide detailed information about available therapeutic options and that patients have the right to refuse measures that contradict their personal values. However, when it comes to end-of-life decision-making a number of differences exist in the more specific regulations of individual countries. These differences and how they might nevertheless impact patient's choices will be addressed in the current debate...
December 28, 2017: BMC Palliative Care
https://www.readbyqxmd.com/read/29249381/co-localization-of-cystatin-c-and-prosaposin-in-cultured-neurons-and-in-anterior-horn-neurons-with-amyotrophic-lateral-sclerosis
#10
Yasuko Wada, Atsushi Nagai, Abdullah Md Sheikh, Keiichi Onoda, Masaharu Terashima, Yuri Shiota, Asuka Araki, Shuhei Yamaguchi
Cystatin C (CST3) is a cysteine protease inhibitor that regulates lysosomal enzyme activity and is reported to be involved in the process of neurodegeneration. In the present study, we investigated whether CST3 interacts with other proteins and affects neurodegeneration in vitro and under disease conditions. We intended to identify any protein that interacts with CST3 by using a yeast two-hybrid system, and found prosaposin (PSAP) as a candidate protein. The binding of CST3 and PSAP was confirmed using an immunoprecipitation-based in vitro assay...
January 15, 2018: Journal of the Neurological Sciences
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
#11
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
#12
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...
December 27, 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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