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https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#1
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28766957/immunohistochemical-detection-of-c9orf72-protein-in-frontotemporal-lobar-degeneration-and-motor-neurone-disease-patterns-of-immunostaining-and-an-evaluation-of-commercial-antibodies
#2
Yvonne S Davidson, Andrew C Robinson, Sara Rollinson, Stuart Pickering-Brown, Shangxi Xiao, Janice Robertson, David M A Mann
We have employed as 'gold standards' two in-house, well-characterised and validated polyclonal antibodies, C9-L and C9-S, which detect the longer and shorter forms of C9orf72, and have compared seven other commercially available antibodies with these in order to evaluate the utility of the latter as credible tools for the demonstration of C9orf72. C9-L and C9-S antibodies immunostained cytoplasmic 'speckles', and the nuclear membrane, respectively, in cerebellar Purkinje cells of the cerebellum in patients with behavioural variant frontotemporal dementia (bvFTD) with amyotrophic lateral sclerosis (ALS), and in patients with ALS alone...
August 2, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28749553/myelopathy-in-beh%C3%A3-et-s-disease-the-bagel-sign
#3
Ugur Uygunoglu, Burcu Zeydan, Yesim Ozguler, Serdal Ugurlu, Emire Seyahi, Naci Kocer, Civan Islak, Kejal Kantarci, Sabahattin Saip, Aksel Siva, Orhun H Kantarci
OBJECTIVE: To describe the clinical and distinctive imaging features of myelopathy associated with Behçet's disease (BD). METHODS: We evaluated the records of patients meeting the following criteria: (1) fulfillment of the International Study Group criteria for BD; (2) clinically suggestive of myelopathy; (3) simultaneous spinal cord and brain magnetic resonance images (MRIs) within 1 month of acute worsening of myelopathy; and (4) follow-up duration ≥ 1 year after initial MRI evaluation...
July 27, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#4
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28669296/a-neurophysiological-approach-to-nerve-transfer-to-restore-upper-limb-function-in-cervical-spinal-cord-injury
#5
Ross M Mandeville, Justin M Brown, Geoffrey L Sheean
A successful nerve transfer surgery can provide a wealth of benefits to a patient with cervical spinal cord injury. The process of surgical decision making ideally uses all pertinent information to produce the best functional outcome. Reliance on clinical examination and imaging studies alone can miss valuable information on the state of spinal cord health. In this regard, neurophysiological evaluation has the potential to effectively gauge the neurological status of even select pools of anterior horn cells and their axons to small nerve branches in question to determine the potential efficacy of their use in a transfer...
July 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28657126/a-homozygous-i684t-in-gle1-as-a-novel-cause-of-arthrogryposis-and-motor-neuron-loss
#6
Teija Paakkola, Katri Vuopala, Hannaleena Kokkonen, Jaakko Ignatius, Marita Valkama, Jukka S Moilanen, Somayyeh Fahiminiya, Jacek Majewski, Reetta Hinttala, Johanna Uusimaa
Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as Lethal congenital contracture syndrome 1 (LCCS1) and Lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. The homozygous FinMajor mutation p.T144_E145insPFQ has been described as one of the causes for LCCS1 whereas LAAHD is caused by a heterocompound FinMajor mutation together with p.R569H, p...
June 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28632899/novel-intracytoplasmic-inclusions-immunoreactive-for-phosphorylated-tdp43-and-cystatin-c-in-anterior-horn-cells-in-a-case-of-sporadic-amyotrophic-lateral-sclerosis
#7
Masayuki Shintaku, Daita Kaneda, Kiyomitsu Oyanagi
Novel intracytoplasmic inclusions immunoreactive for phosphorylated transactivation response DNA-binding protein 43 (p-TDP43), cystatin C, and transferrin were found in anterior horn cells in a case of sporadic amyotrophic lateral sclerosis (ALS). The patient was a 59-year-old woman, who died of ALS after a clinical course of 8 years. She had been receiving mechanical support for respiration for 6 years and in a "totally locked-in" state for 4 years prior to death. The spinal cord showed severe degeneration involving the anterior and lateral funiculi, whereas the posterior funiculus was preserved...
June 20, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28630311/a-prokaryotic-viral-sequence-is-expressed-and-conserved-in-mammalian-brain
#8
Yang-Hui Yeh, Vignesh Gunasekharan, Laura Manuelidis
A natural and permanent transfer of prokaryotic viral sequences to mammals has not been reported by others. Circular "SPHINX" DNAs <5 kb were previously isolated from nuclease-protected cytoplasmic particles in rodent neuronal cell lines and brain. Two of these DNAs were sequenced after Φ29 polymerase amplification, and they revealed significant but imperfect homology to segments of commensal Acinetobacter phage viruses. These findings were surprising because the brain is isolated from environmental microorganisms...
July 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28584672/keratoacanthoma-of-the-nasal-septum-secondary-to-ranibizumab-use
#9
Jason E Cohn, Hilary M Caruso Sales, Giang Huong Nguyen, Harvey Spector, Kenneth Briskin
Keratoacanthoma (KA) is a benign epithelial tumor that typically presents as a firm, cone-shaped, flesh-colored nodule with a central horn-filled crater. KA is considered to be a low-grade variant of squamous cell carcinoma (SCC). We report a rare case of a 72-year-old male who presented with a KA involving the nasal septum, possibly related to ranibizumab use. A flesh-colored lesion on the right anterior nasal septum lesion was visualized on examination. Histologic examination revealed a well-circumscribed, dome-shaped central crater filled with keratin, well-differentiated squamous epithelium with ground-glass cytoplasm with pushing margins, and intraepithelial microabscesses establishing the diagnosis of KA...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28554554/expanding-the-phenotypic-spectrum-associated-with-mutations-of-dync1h1
#10
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft
Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28549966/lentivirus-mediated-inhibition-of-aqp4-accelerates-motor-function-recovery-associated-with-ngf-in-spinal-cord-contusion-rats
#11
Jianmin Chen, Xi Zeng, Shengnan Li, Zhanqiong Zhong, Xi Hu, Hongyu Xiang, Ying Rao, Lixin Zhang, Xiuya Zhou, Qingjie Xia, Tinghua Wang, Xiao Zhang
Aquaporin-4 (AQP4) is a water channel protein in spinal cord and plays a critical role in the pathophysiological process of spinal cord injury (SCI). However, little is known about the molecular mechanism of AQP4 involved in SCI. The present study was performed to investigate the possible molecules regulated by AQP4 after SCI by use of lentiviral-mediated RNA interference (RNAi). First, the motor function was evaluated by Basso, Beattie, Bresnahan (BBB) scale and the expression of AQP4 was measured by western blot, immunohistochemical staining and immunofluorescence in rats after contusion spinal cord injury (cSCI)...
May 23, 2017: Brain Research
https://www.readbyqxmd.com/read/28539831/aldehyde-dehydrogenases-1a2-expression-and-distribution-are-potentially-associated-with-neuron-death-in-spinal-cord-of-tg-sod1-g93a-1gur-mice
#12
Huiting Liang, Chengsi Wu, Youqing Deng, Lei Zhu, Jie Zhang, Weiming Gan, Chunyan Tang, Renshi Xu
The pathogenesis of amyotrophic lateral sclerosis (ALS) has not been unclear yet, it might be associated with the abnormal expression and distribution of certain proteins. Aldehyde dehydrogenases 1A2 (ALDH1A2) was thought to be one of potential candidates. Therefore, in this study we observed and analyzed the alteration of the expression and distribution of ALDH1A2 in the spinal cord of wild-type (WT) and Tg(SOD1*G93A)1Gur mice. We compared the expression and distribution of ALDH1A2 in the different segments, anatomic regions and neural cells of spinal cord at the different stages of WT and Tg(SOD1*G93A)1Gur mice applied the methods of fluorescent immunohistochemistry and western blot...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28528422/5-ala-fluorescence-guided-endoscopic-surgery-for-mixed-germ-cell-tumors
#13
Junichi Takeda, Masahiro Nonaka, Yi Li, Yumiko Komori, Takamasa Kamei, Ryoichi Iwata, Tetsuo Hashiba, Kunikazu Yoshimura, Akio Asai
5-Aminolevulinic acid (5-ALA) fluorescence-guided surgery is widely used for detection and planning of resection of malignant gliomas and other brain tumors. However, no reports have described 5-ALA fluorescence-guided surgery or direct visualization of germ cell tumors. Here, we report two cases of germ cell tumors in which a positive 5-ALA fluorescent signal was visualized with a neuroendoscope. Both cases had a tumor in the pineal region that was associated with hydrocephalus. The patients underwent surgery after administration of 5-ALA...
August 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28413866/inositol-hexakisphosphate-kinase-2-is-a-presymptomatic-biomarker-for-amyotrophic-lateral-sclerosis
#14
Yusuke Moriya, Eiichiro Nagata, Natsuko Fujii, Tadayuki Satoh, Haruko Ogawa, Shinji Hadano, Shunya Takizawa
OBJECTIVE: Inositol hexakisphosphate kinase 2 (InsP6K2), an enzyme that converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7), induces cell death. InsP6K2 is abundant in the central nervous system, especially anterior horn cells of spinal cord. To identify the role of InsP6K2 in amyotrophic lateral sclerosis (ALS), we investigated the expression levels of InsP6K2 in transgenic mice expressing mutant superoxide dismutase-1 (SOD1) (mSOD1 Tg mice). METHODS: The specimens of spinal cords were obtained from mSOD1 Tg mice and age-matched wild-type mice...
April 20, 2017: Tokai Journal of Experimental and Clinical Medicine
https://www.readbyqxmd.com/read/28382437/diffuse-leptomeningeal-glioneuronal-tumor-dlgnt-mimicking-whipple-s-disease-a-case-report-and-literature-review
#15
Vega Karlowee, Manish Kolakshyapati, Vishwa Jeet Amatya, Takeshi Takayasu, Ryo Nosaka, Kazuhiko Sugiyama, Kaoru Kurisu, Fumiyuki Yamasaki
INTRODUCTION: Diffuse leptomeningeal glioneuronal tumor is a new entity under the neuronal and mixed neuronal-glial tumors in the WHO 2016 updated classification and commonly found in children and adolescents. The initial diagnosis is challenging because of its non-specific radiologic feature and negative CSF cytology analysis. A 17 years male was presented with intractable headache subsequently followed by back pain and joint pain. MRI showed enhancement of arachnoid membrane at basal cistern, bilateral sylvian fissure and cerebral cistern with slight enlargement of ventricles...
August 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28380696/long-term-neuromuscular-outcomes-of-west-nile-virus-infection-a-clinical-and-electromyographic-evaluation-of-patients-with-a-history-of-infection
#16
Parveen Athar, Rodrigo Hasbun, Melissa S Nolan, Lucrecia Salazar, Steven P Woods, Kazim Sheikh, Kristy O Murray
INTRODUCTION: Neuromuscular clinical manifestations during acute West Nile virus (WNV) infection are well documented; however, long-term neurologic outcomes still require investigation. METHODS: We conducted a long-term follow-up study in patients with history of WNV infection. Of the 117 patients who participated in neurologic and neurocognitive evaluations, 30 were referred for neuromuscular and electrodiagnostic evaluation based on abnormal findings. RESULTS: We found that 33% of these patients (10 of 30) showed abnormalities on nerve conduction and/or needle electromyography due to primary or secondary outcomes of WNV infection...
April 5, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28380320/reappraisal-of-the-f-m-amplitude-ratio-in-carpal-tunnel-syndrome
#17
F Ginanneschi, M Mondelli, A Aretini, Alessandro Rossi
The F-wave/M-wave amplitude (F/M-amp) ratio has been shown to be increased in peripheral neuropathies, provided the maximum M-wave is relatively preserved. Reduced M-wave amplitudes and central facilitation of antidromically-induced reactivation of the anterior horn cells' axon hillocks (F-wave) are believed to contribute to higher F/M-amp ratios. The present study was undertaken to re-evaluate mechanisms responsible for higher F/M-amp ratios in carpal tunnel syndrome (CTS). We enrolled 232 cases affected by CTS and 108 controls...
January 2017: Functional Neurology
https://www.readbyqxmd.com/read/28352498/traumatic-cervical-nerve-root-avulsion-with-pseudomeningocele-formation
#18
Ali S Haider, Ian T Watson, Suraj Sulhan, Dean Leonard, Eliel N Arrey, Umair Khan, Phu Nguyen, Kennith F Layton
Cervical nerve root avulsion is a well-documented result of motor vehicle collision (MVC), especially when occurring at high velocities. These avulsions are commonly traction injuries of nerve roots that may be accompanied by a tear in the meninges through the vertebral foramina with associated collections of cerebrospinal fluid (CSF), thereby resulting in a pseudomeningocele. We present a case of a 19-year-old male who experienced an MVC and was brought to the emergency department (ED) with right arm paralysis and other injuries...
February 14, 2017: Curēus
https://www.readbyqxmd.com/read/28251660/neuronal-and-microglial-mechanisms-for-neuropathic-pain-in-the-spinal-dorsal-horn-and-anterior-cingulate-cortex
#19
REVIEW
Makoto Tsuda, Kohei Koga, Tao Chen, Min Zhuo
Neuropathic pain is a debilitating chronic pain condition occurring after damage in the nervous system and is refractory to the currently available treatments. Major challenges include elucidating its mechanisms and developing new medications to treat it. Nerve injury-induced pain hypersensitivity involves aberrant excitability in spinal dorsal horn (SDH) neurons as a consequence of dysfunction of inhibitory interneurons and of hyperactivity of glial cells, especially microglia, the immune cells of the central nervous system...
May 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28124772/expression-and-distribution-of-arylsulfatase-b-are-closely-associated-with-neuron-death-in-sod1-g93a-transgenic-mice
#20
Jie Zhang, Huiting Liang, Lei Zhu, Weiming Gan, Chunyan Tang, Jiao Li, Renshi Xu
The known proteins only explained the partial pathogenesis of amyotrophic lateral sclerosis (ALS). Therefore, this study aimed to search the novel proteins possibly involved in ALS. In this study, we analyzed the expression and distribution of the candidate protein arylsulfatase B (ARSB) in the different segments, anatomic regions, and neural cells of spinal cord at the different stages of the wild-type and [Cu/Zn] superoxide dismutase 1 (SOD1) G93A transgenic mice using the fluorescent immunohistochemistry and the western blot...
January 26, 2017: Molecular Neurobiology
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