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https://www.readbyqxmd.com/read/29427106/the-neuropathology-of-spinocerebellar-ataxia-type-3-machado-joseph-disease
#1
Arnulf H Koeppen
Spinocerebellar ataxia type 3 (SCA-3)/Machado-Joseph disease (MJD), the most common autosomal dominant ataxia, affects many regions of the brain and spinal cord. Similar to SCA-1, SCA-2, SCA-6, SCA-7, and SCA-17, the mutation consists of a pathogenic translated cytosine-adenine-guanine (CAG) trinucleotide repeat expansion. Almost invariably, the substantia nigra and the dentate nucleus of the cerebellum bear the brunt of the disease, and these lesions account for the Parkinsonian and ataxic phenotypes. Lesions of motor nuclei in the brain stem cause the complex disturbance of ocular motility and weakness of the tongue...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29381509/aspirin-suppresses-neuronal-apoptosis-reduces-tissue-inflammation-and-restrains-astrocyte-activation-by-activating-the-nrf2-ho-1-signaling-pathway
#2
Wang Wei, Chen Shurui, Zhou Zipeng, Dai Hongliang, Wang Hongyu, Li Yuanlong, Zhou Kang, Shen Zhaoliang, Guo Yue, Liu Chang, Xifan Mei
The nuclear factor E2-related factor 2 (Nrf2)/antioxidant response element signaling pathway plays a substantial role in preventing oxidative stress-related diseases. Aspirin has been shown to exert several pharmacological effects by inducing the expression of the heme oxygenase-1 (HO-1) protein. However, the effects of aspirin on spinal cord injury (SCI) have rarely been studied. Therefore, we sought to investigate the neuroprotective effects of aspirin after SCI. We employed a spinal cord contusion model in Sprague-Dawley rats, and aspirin was administered intraperitoneally for 7 days...
January 29, 2018: Neuroreport
https://www.readbyqxmd.com/read/29374221/fingerprint-analysis-of-huolingshengji-formula-and-its-neuroprotective-effects-in-sod1g93a-mouse-model-of-amyotrophic-lateral-sclerosis
#3
Qinming Zhou, Youjie Wang, Jingjing Zhang, Yaping Shao, Song Li, Yuan Wang, Huaibin Cai, Yi Feng, Weidong Le
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease characterized by progressive loss of motor neurons. There are no definitive pathogenic mechanisms and effective treatments for ALS now. Traditional Chinese medicine (TCM) plays an important role in Chinese health care system. Huolingshengji Formula (HLSJ) is a TCM formula which is applied for treating flaccid syndrome. Our previous clinical study has indicated that HLSJ may have therapeutic effects in ALS patients. In the present study, we analyzed the chemical profile of HLSJ by the high-performance liquid chromatographic (HPLC) fingerprint analysis...
January 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29350170/atypical-lower-motor-neuron-disease-with-enlargement-of-nissl-substance-report-of-an-autopsy-case
#4
Masayuki Shintaku, Daita Kaneda, Kiyomitsu Oyanagi
The patient was an 81-year-old woman diagnosed with atypical motor neuron disease who died after a long clinical course (7.5 years without mechanical assistance of ventilation) characterized by lower motor neuron signs and symptoms. Upper motor neuron signs and cognitive impairment were not apparent. Autopsy demonstrated severe neuronal loss in the anterior horn of the spinal cord, and some of the remaining neurons showed enlargement of Nissl substance and apparent thickening of the nuclear envelopes. No Bunina bodies, skein-like inclusions, or structures immunoreactive for phosphorylated transactivation response DNA-binding protein 43 were found...
January 19, 2018: Clinical Neuropathology
https://www.readbyqxmd.com/read/29286067/changes-in-microrna-expression-in-the-brachial-plexus-avulsion-model-of-neuropathic-pain
#5
Yuzhou Liu, Le Wang, Jie Lao, Xin Zhao
The present study aimed to perform microRNA (miRNA/miR) expression profiling of the thalamus (T), the anterior cingulate (AC), the dorsal horn of the spinal cord (DHSC) and the blood (B) in post‑complete brachial plexus avulsion (CBPA) pain model, and analyze biological functions. Neuropathic pain was induced in Sprague‑Dawley rats by CBPA. Animal behavioral tests were performed to differentiate the pain and control groups. DHSC, T, AC and B tissues were collected from the two groups for miRNA array analysis...
December 19, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29172006/two-cases-of-spinal-muscular-atrophy-type-ii-with-eosinophilic-oesophagitis
#6
Heidi R Fuller, Hannah K Shorrock, Thomas H Gillingwater, Anna Pigott, Victoria Smith, Richa Kulshrestha, Caroline S Sewry, Tracey A Willis
Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29171910/mutant-huntingtin-protein-expression-and-blood-spinal-cord-barrier-dysfunction-in-huntington-disease
#7
Giacomo Sciacca, Francesca Cicchetti
OBJECTIVE: The aim of the study was to assess the distribution, frequency, and specific location of mutant huntingtin protein (mHTT) aggregates-the pathological hallmark of Huntington disease (HD)-within the various compartments of the spinal cord and their potential impact on the local vasculature and blood-spinal cord barrier (BSCB). METHODS: We performed a series of postmortem immunohistochemical and immunofluorescent stainings, as well as Western blot analyses, on cervical and lumbar sections of the spinal cord in patients diagnosed with HD (n = 11 of all grades of disease severity) along with sex- and age-matched healthy controls (n = 9)...
December 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29167994/congenital-zika-virus-infection-a-neuropathological-review
#8
L Chimelli, E Avvad-Portari
BACKGROUND: A relationship between Zika virus (ZikV) infection in pregnancy and the occurrence of microcephaly was established during the Zika outbreak in Brazil (2015-2016). Neuropathological findings in congenital Zika syndrome helped to understand its pathogenetic mechanisms. RESULTS: The most relevant postmortem findings in the central nervous system (CNS) of fetuses and neonates infected with ZikV early in gestation are microcephaly with ex-vacuo ventriculomegaly and large head circumference associated with obstructive hydrocephalus due to severe midbrain and aqueduct distortion...
January 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29150766/spinobot-an-mri-guided-needle-positioning-system-for-spinal-cellular-therapeutics
#9
Alexander Squires, John N Oshinski, Nicholas M Boulis, Zion Tsz Ho Tse
The neurodegenerative disease amyotrophic lateral sclerosis (ALS) results in the death of motor neurons in voluntary muscles. There are no cures for ALS and few available treatments. In studies with small animal models, injection of cellular therapeutics into the anterior horn of the spinal cord has been shown to inhibit the progression of ALS. It was hypothesized that spinal injection could be made faster and less invasive with the aid of a robot. The robotic system presented-SpinoBot-uses MRI guidance to position a needle for percutaneous injection into the spinal cord...
November 17, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/29118923/ddx3-binding-with-ck1%C3%AE%C2%B5-was-closely-related-to-motor-neuron-degeneration-of-als-by-affecting-neurite-outgrowth
#10
Yanchun Chen, Qing Wang, Qiaozhen Wang, Huancai Liu, Fenghua Zhou, Yawen Zhang, Meng Yuan, Chunyan Zhao, Yingjun Guan, Xin Wang
Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative disease characterized by progressive degeneration of motor neurons. The pathogenesis of ALS remains largely unknown. RNA helicase DDX3 is a multifunctional protein involved in several steps of gene expression. Casein kinase 1ε (CK1ε) is an important signal molecule of Wnt signaling pathway and is closely related to neurite growth. However, the roles of DDX3 and CK1ε in the pathogenesis of ALS remain unclear. In this study, we first investigated the expression of DDX3 and CK1ε in the spinal cord of SOD1-G93A ALS transgenic mice using RT-PCR, Western blot and immunohistochemical technique...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/29062563/segmental-spinal-muscular-atrophy-localised-to-the-lower-limbs-first-case-from-oman
#11
Roshan Koul, Amna Al-Futaisi, Khalid Al-Thihli, Zandre Bruwer, Patrick Scott
Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the survival of motor neuron 1 gene confirmed the diagnosis of SMA...
August 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#12
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28983837/treatment-advances-in-spinal-muscular-atrophy
#13
REVIEW
Diana Bharucha-Goebel, Petra Kaufmann
PURPOSE OF REVIEW: Spinal muscular atrophy (SMA) is a genetic disorder of motor neurons in the anterior horns of the spinal cord and brainstem that results in muscle atrophy and weakness. SMA is an autosomal recessive disease linked to deletions of the SMN1 gene on chromosome 5q. Humans have a duplicate gene (SMN2) whose product can mitigate disease severity, leading to the variability in severity and age of onset of disease, and is therefore a target for drug development. RECENT FINDINGS: Advances in preclinical and clinical trials have paved the way for novel therapeutic options for SMA patients, including many currently in clinical trials...
October 6, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28966654/a-progressive-compression-model-of-thoracic-spinal-cord-injury-in-mice-function-assessment-and-pathological-changes-in-spinal-cord
#14
Guo-Dong Sun, Yan Chen, Zhi-Gang Zhou, Shu-Xian Yang, Cheng Zhong, Zhi-Zhong Li
Non-traumatic injury accounts for approximately half of clinical spinal cord injury, including chronic spinal cord compression. However, previous rodent spinal cord compression models are mainly designed for rats, few are available for mice. Our aim is to develop a thoracic progressive compression mice model of spinal cord injury. In this study, adult wild-type C57BL/6 mice were divided into two groups: in the surgery group, a screw was inserted at T9 lamina to compress the spinal cord, and the compression was increased by turning it further into the canal (0...
August 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28926131/region-specific-impairment-of-the-cervical-spinal-cord-sc-in-amyotrophic-lateral-sclerosis-a-preliminary-study-using-sc-templates-and-quantitative-mri-diffusion-tensor-imaging-inhomogeneous-magnetization-transfer
#15
Henitsoa Rasoanandrianina, Aude-Marie Grapperon, Manuel Taso, Olivier M Girard, Guillaume Duhamel, Maxime Guye, Jean-Philippe Ranjeva, Shahram Attarian, Annie Verschueren, Virginie Callot
In this preliminary study, our objective was to investigate the potential of high-resolution anatomical imaging, diffusion tensor imaging (DTI) and conventional/inhomogeneous magnetization transfer imaging [magnetization transfer (MT)/inhomogeneous magnetization transfer (ihMT)] at 3 T, analyzed with template-extracted regions of interest, to measure the atrophy and structural changes of white (WM) and gray (GM) matter spinal cord (SC) occurring in patients with amyotrophic lateral sclerosis (ALS). Ten patients with ALS and 20 age-matched healthy controls were recruited...
September 19, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28895473/neuroinflammation-in-amyotrophic-lateral-sclerosis-role-of-redox-dys-regulation
#16
Nadia D'Ambrosi, Mauro Cozzolino, Maria Teresa Carrì
SIGNIFICANCE: Amyotrophic lateral sclerosis (ALS) is due to degeneration of upper and lower motor neurons in the anterior horn of the spinal cord and in the motor cortex. Mechanisms leading to motor neuron death are complex and currently the disease is untreatable. Recent Advances: Work in genetic models of ALS indicates that an imbalance in the cross talk that physiologically exists between motor neurons and the surrounding cells is eventually detrimental to motor neurons. In particular, the cascade of events collectively known as neuroinflammation and mainly characterized by a reactive phenotype of astrocytes and microglia, moderate infiltration of peripheral immune cells, and elevated levels of inflammatory mediators has been consistently observed in motor regions of the central nervous system (CNS) in sporadic and familial ALS, constituting a hallmark of the disease...
October 16, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28867325/neuroprotective-effects-of-valproic-acid-in-a-rat-model-of-cauda-equina-injury
#17
Qing-Jie Kong, Yuan Wang, Yang Liu, Jing-Chuan Sun, Xi-Ming Xu, Xiao-Fei Sun, Jian-Gang Shi
BACKGROUND: Histone deacetylase inhibitors (HDACi), including valproic acid (VPA), are promising therapeutic interventions in neurological disorders and play an important role in synaptic activity and neuronal function. MATERIAL AND METHODS: A total of 30 rats were randomly allocated to three groups: sham, control, and VPA. The rats in the VPA and control groups received laminectomy at the L4 level of the vertebrae and silicone gel implantation into the epdidural spaces L5 and L6...
August 31, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28855045/acute-flaccid-myelitis-in-german-children-in-2016-the-return-of-polio
#18
Johannes Hübner, Bernd Kruse, Hans-Jürgen Christen, Jürgen Weidenmann, Viktoria Weiner, Jan-Christoph Schöne-Bake, Anna Eichinger, Sabine Diedrich, Wolfgang Müller-Felber
BACKGROUND: Although poliomyelitis has almost been eradicated worldwide, cases of a polio-like disease with asymmetrical flaccid paralysis of variable severity have been seen repeatedly in recent years. METHODS: Data were collected on children treated in hospitals in the German federal states of Bavaria and Lower Saxony in 2016. The frequency of disease across Germany was estimated on the basis of voluntary reporting to the Robert Koch Institute. 16 cases were registered there for the entire year 2016...
August 21, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28853070/activation-of-microglyocytes-in-the-anterior-horns-of-rat-spinal-cord-after-administration-of-bacterial-lipopolysaccharide
#19
E A Kolos, D E Korzhevskii
We studied the reaction of the microglia of the anterior horns of the rat spinal cord to intraperitoneal administration of bacterial LPS. Immunohistochemical analysis showed that acute systemic inflammation leads to activation of more than half of microglial cells as soon as in 24 h after LPS injection, while the total number of microglial cells does not change significantly. It was hypothesized that activated microglial cells are involved in the reorganization of synaptic connections, but do not have a neurotoxic effect...
August 29, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28832294/-acute-flaccid-myelitis-after-a-respiratory-tract-infection-first-dutch-case-related-to-enterovirus-type-d68-infection
#20
J Helfferich, E M Kingma, L C Meiners, E H Schölvinck, H D Mulder, O F Brouwer
BACKGROUND: Acute flaccid myelitis (AFM) is a relatively rare disorder affecting the anterior horn of the spinal cord and brain stem. It is characterised by rapid progressive weakness of the limbs and respiratory muscles, often combined with cranial nerve dysfunction. This used to be seen in infections with the polio virus, but in recent years, AFM has been mainly associated with enterovirus D68 infection. CASE DESCRIPTION: A boy of nearly 4 years-old developed rapidly progressive weakness and respiratory failure after an upper airway infection...
2017: Nederlands Tijdschrift Voor Geneeskunde
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