The emerging role of complement in neuromuscular disorders

2021 ◽  
Author(s):  
John D. Lee ◽  
Trent M. Woodruff
Keyword(s):  
Neuromuscular Disorders

Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital

2020 ◽  
Vol 78 (8) ◽  
pp. 494-500 ◽  
Author(s):  
Adalberto STUDART-NETO ◽  
Bruno Fukelmann GUEDES ◽  
Raphael de Luca e TUMA ◽  
Antonio Edvan CAMELO FILHO ◽  
Gabriel Taricani KUBOTA ◽  
...  
Keyword(s):  
Neurological Diseases ◽  
Neuromuscular Disorders ◽  
Neurological Symptoms ◽  
University Hospital ◽  
Special Treatment ◽  
Nasal Swabs ◽  
Neurological Exam ◽  
Neurological Conditions ◽  
De Medicina

ABSTRACT Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. Objective: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. Results: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.

Prognostic role of Pro-BNP levels in left ventricular hypertrabeculation/non-compaction and neuromuscular disorders: results of a pilot study

2019 ◽  
Vol 67 (3) ◽  
Author(s):  
Norbert Malli ◽  
Nastasia Wilfinger-Lutz ◽  
Walter Krugluger ◽  
Claudia Stöllberger ◽  
Maria Winkler-Dwora K ◽  
...  
Keyword(s):  
Pilot Study ◽  
Neuromuscular Disorders ◽  
Left Ventricular ◽  
Prognostic Role

scholarly journals Increasing Role of Titin Mutations in Neuromuscular Disorders

2016 ◽  
Vol 3 (3) ◽  
pp. 293-308 ◽  
Author(s):  
Marco Savarese ◽  
Jaakko Sarparanta ◽  
Anna Vihola ◽  
Bjarne Udd ◽  
Peter Hackman
Keyword(s):  
Neuromuscular Disorders

scholarly journals The Recent Understanding of the Neurotrophin's Role in Skeletal Muscle Adaptation

2011 ◽  
Vol 2011 ◽  
pp. 1-12 ◽  
Author(s):  
Kunihiro Sakuma ◽  
Akihiko Yamaguchi
Keyword(s):  
Skeletal Muscle ◽  
Neuromuscular Disorders ◽  
Muscle Fibers ◽  
Brain Disorders ◽  
Muscle Adaptation ◽  
Bdnf Mrna ◽  
Pathological Conditions ◽  
Development And Differentiation ◽  
And Function

This paper summarizes the various effects of neurotrophins in skeletal muscle and how these proteins act as potential regulators of the maintenance, function, and regeneration of skeletal muscle fibers. Increasing evidence suggests that this family of neurotrophic factors influence not only the survival and function of innervating motoneurons but also the development and differentiation of myoblasts and muscle fibers. Muscle contractions (e.g., exercise) produce BDNF mRNA and protein in skeletal muscle, and the BDNF seems to play a role in enhancing glucose metabolism and may act for myokine to improve various brain disorders (e.g., Alzheimer's disease and major depression). In adults with neuromuscular disorders, variations in neurotrophin expression are found, and the role of neurotrophins under such conditions is beginning to be elucidated. This paper provides a basis for a better understanding of the role of these factors under such pathological conditions and for treatment of human neuromuscular disease.

scholarly journals Secretion management in patients with ineffective airway clearance with non-invasive mechanical ventilation use: Expert guidance for clinical practice

2021 ◽  
Author(s):  
Vijay Hadda ◽  
Tejas Menon Suri ◽  
Sourabh Pahuja ◽  
Mohamad El-Khatib ◽  
Laura D. Ciobanu ◽  
...  
Keyword(s):  
Electronic Mail ◽  
Neuromuscular Disorders ◽  
Relevant Literature ◽  
Invasive Mechanical Ventilation ◽  
Non Invasive ◽  
Airway Clearance ◽  
Non Invasive Ventilation ◽  
Airway Secretion ◽  
Secretion Clearance

Non-invasive ventilation (NIV) is a mainstay of management of chronic respiratory failure in many disorders which are known to cause abnormal airway secretion clearance. Currently, there is no guidance regarding either the secretion handling during NIV use or the role of NIV in secretion management in these patients. The aim of this document was to provide an overview of the various techniques available in the management of respiratory secretions and their use in conjunction with NIV. Literature search was performed using the keywords, “(secretion OR secretions) AND (noninvasive ventilation OR NIV)” on PubMed and EMBASE. The search yielded 1681 and 509 titles from PubMed and EMBASE, respectively. After screening, 19 articles were included in this review. Suggestions of the expert panel were formulated by mutual consensus after reviewing the relevant literature. The draft of the expert panel’s suggestions was circulated among all authors via electronic mail for comments. Any conflicts were resolved by mutual discussion to achieve agreement. The final document was approved by all. This document by the International Network for Airway Secretions Management in NIV describes various airway secretion clearance techniques. It provides the expert panel’s suggestions for the use of these techniques in conjunction with NIV for patients with muco-obstructive and neuromuscular disorders. 

scholarly journals The role of tRNA synthetases in neurological and neuromuscular disorders

FEBS Letters ◽  
2018 ◽  
Vol 592 (5) ◽  
pp. 703-717 ◽  
Author(s):  
Veronika Boczonadi ◽  
Matthew J. Jennings ◽  
Rita Horvath
Keyword(s):  
Neuromuscular Disorders ◽  
Trna Synthetases

scholarly journals Neuromuscular Disorders and the Role of the Clinical Electrophysiologist

2017 ◽  
Vol 3 (10) ◽  
pp. 1069-1079 ◽  
Author(s):  
Haisam Ismail ◽  
Elizabeth Raynor ◽  
Peter Zimetbaum
Keyword(s):  
Neuromuscular Disorders

scholarly journals Tks5 Regulates Synaptic Podosome Formation and Stabilization of the Postsynaptic Machinery at the Neuromuscular Junction

2021 ◽  
Vol 22 (21) ◽  
pp. 12051
Author(s):  
Marcin Pęziński ◽  
Kamila Maliszewska-Olejniczak ◽  
Patrycja Daszczuk ◽  
Paula Mazurek ◽  
Paweł Niewiadomski ◽  
...  
Keyword(s):  
Neuromuscular Junction ◽  
Cancer Cells ◽  
Acetylcholine Receptor ◽  
Actin Filaments ◽  
Neuromuscular Disorders ◽  
Scaffold Protein ◽  
Crucial Component ◽  
Important Regulator ◽  
First Time

Currently, the etiology of many neuromuscular disorders remains unknown. Many of them are characterized by aberrations in the maturation of the neuromuscular junction (NMJ) postsynaptic machinery. Unfortunately, the molecular factors involved in this process are still largely unknown, which poses a great challenge for identifying potential therapeutic targets. Here, we identified Tks5 as a novel interactor of αdystrobrevin-1, which is a crucial component of the NMJ postsynaptic machinery. Tks5 has been previously shown in cancer cells to be an important regulator of actin-rich structures known as invadosomes. However, a role of this scaffold protein at a synapse has never been studied. We show that Tks5 is crucial for remodeling of the NMJ postsynaptic machinery by regulating the organization of structures similar to the invadosomes, known as synaptic podosomes. Additionally, it is involved in the maintenance of the integrity of acetylcholine receptor (AChR) clusters and regulation of their turnover. Lastly, our data indicate that these Tks5 functions may be mediated by its involvement in recruitment of actin filaments to the postsynaptic machinery. Collectively, we show for the first time that the Tks5 protein is involved in regulation of the postsynaptic machinery.

scholarly journals Ewing Sarcoma Protein: A Key Player in Human Cancer

2013 ◽  
Vol 2013 ◽  
pp. 1-12 ◽  
Author(s):  
Maria Paola Paronetto
Keyword(s):  
Ewing Sarcoma ◽  
Cancer Biology ◽  
Genome Stability ◽  
Rna Binding ◽  
Human Cancer ◽  
Neuromuscular Disorders ◽  
Regulation Of Gene Expression ◽  
Protein A ◽  
Structural Features

The Ewing sarcoma protein (EWS) is a well-known player in cancer biology for the specific translocations occurring in sarcomas. The EWS-FLI1 gene fusion is the prototypical translocation that encodes the aberrant, chimeric transcription factor, which is a landmark of Ewing tumors. In all described Ewing sarcoma oncogenes, the EWS RNA binding domains are completely missing; thus RNA binding properties are not retained in the hybrid proteins. However, it is currently unknown whether the absence of EWS function in RNA metabolism plays a role in oncogenic transformation or if EWS plays a role by itself in cancer development besides its contribution to the translocation. In this regard, recent reports have highlighted an essential role for EWS in the regulation of DNA damage response (DDR), a process that counteracts genome stability and is often deregulated in cancer cells. The first part of this review will describe the structural features of EWS and its multiple roles in the regulation of gene expression, which are exerted by coordinating different steps in the synthesis and processing of pre-mRNAs. The second part will examine the role of EWS in the regulation of DDR- and cancer-related genes, with potential implications in cancer therapies. Finally, recent advances on the involvement of EWS in neuromuscular disorders will be discussed. Collectively, the information reviewed herein highlights the broad role of EWS in bridging different cellular processes and underlines the contribution of EWS to genome stability and proper cell-cycle progression in higher eukaryotic cells.

Role of MRI in the diagnosis of neuromuscular disorders

2011 ◽  
Vol 152 (34) ◽  
pp. 1362-1367
Author(s):  
Endre Pál ◽  
Katalin Dérczy
Keyword(s):  
Differential Diagnosis ◽  
Muscle Damage ◽  
Neuromuscular Disease ◽  
Neuromuscular Disorders ◽  
Whole Body ◽  
Muscular Dystrophies ◽  
Genetic Tests ◽  
Muscle Involvement ◽  
Whole Body Mri

Recently, the assessment of the muscles using limb MRI and whole body MRI has become widely available and more frequent. In cases of muscular dystrophies it may help to select the optimal muscles for biopsy, because the severely atrophic and degenerated muscles are not suitable for histological tests. It is also known that the pattern of muscle involvement is characteristic for a certain neuromuscular disease, and clinically silent muscle damage can be visualized, as well. Therefore, imaging of muscles is helpful in neuromuscular differential diagnosis and planning genetic tests. Orv. Hetil., 2011, 152, 1362–1367.

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