scholarly journals Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy

2020 ◽  
Vol 30 (2) ◽  
pp. 286-290 ◽  
Author(s):  
Corrado Angelini ◽  
Gabriele Siciliano
Keyword(s):  
Pompe Disease ◽  
Continuous Monitoring ◽  
Cardiac Involvement ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Muscular Weakness ◽  
Medical Providers ◽  
Scientific Societies ◽  
Airway Clearance ◽  
To Receive

The risk of a severe course of COVID-19 is increased in patients suffering with Neuromuscular disorders (NMD) due to the following comorbidities: muscular weakness of the chest and diaphragm, use of ventilator supports and/or presence of tracheostoma, weak airway clearance, cardiac involvement, rhabdomyolysis, comoribities, steroid and immunosuppressant treatments. NMD display varying levels of disability in people with the same diagnosis, thus it is difficult to give COVID-19 related general recommendations. Present advicess were designed for patients, caregivers, general neurologists and non-specialist medical providers. They address frequently asked questions and basic service requirements and are supported by a series of in-depth references. In this truly unprecedented situation, the clinical management of neuromuscular patients during the COVID-19 epidemics - taking into account the related difficulties (patients who have suspended ERT, difficulty in contacting the doctors, etc.) - we propose to use a telemedicine device, i.e. the AIGkit application (AIGkit app), promoted and developed in 2018 by Fabrizio Seidita on behalf of the Italian Glycogenosis Association (AIG). The app was born to allow patients with Pompe disease to receive as far as possible continuous monitoring of their health. The support of all colleagues of the Italian Association for Myology (AIM) should extend its use to all NMD patients and beyond.

scholarly journals Neuromuscular diseases with hypertrophic cardiomyopathy

2018 ◽  
Vol 2018 (3) ◽  
Author(s):  
Sergi Cesar
Keyword(s):  
Structural Changes ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Pediatric Population ◽  
Genetic Disorders ◽  
Adult Population ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Rare Manifestation ◽  
Sarcomeric Genes

[first paragraph of article]Neuromuscular disorders are frequently associated with cardiac abnormalities, even in pediatric population. Cardiac involvement includes both structural changes and conduction disease. In general, HCM is a rare manifestation of neuromuscular diseases. Autosomal dominant inheritance with mutations in sarcomeric genes are described in about 60% of young adults and adult population with HCM. Other genetic disorders, such as inherited metabolic and neuromuscular diseases and other chromosome abnormalities are responsible of 5–10% of HCM in adults. We review the most frequent neuromuscular diseases related with HCM.

Management of cardiac involvement in neuromuscular disorders

2006 ◽  
Vol 48 (10) ◽  
pp. 863
Author(s):  
Josef Finsterer ◽  
Claudia Stöllberger
Keyword(s):  
Cardiac Involvement ◽  
Neuromuscular Disorders

scholarly journals The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Jorge A. Bevilacqua ◽  
Maria del Rosario Guecaimburu Ehuletche ◽  
Abayuba Perna ◽  
Alberto Dubrovsky ◽  
Marcondes C. Franca ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Latin American ◽  
Pompe Disease ◽  
Muscular Weakness ◽  
Next Generation ◽  
American Experience ◽  
Generation Sequencing

LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 382-384
Author(s):  
S. C.
Keyword(s):  
Peripheral Nerves ◽  
Neuromuscular Disorders ◽  
Serum Enzymes ◽  
Muscle Disease ◽  
Muscular Dystrophies ◽  
Muscular Weakness ◽  
Conduction Velocities ◽  
Clinical Awareness ◽  
Muscle Biopsies

The current literature reflects the interest of pediatricians, neurologists, and internists in the neuromuscular disorders of childhood.1-5 Clinical awareness and the availability and refinement of ancillary procedures, such as electromyography, measurement of nerve conduction velocities, determination of serum enzymes and muscle biopsies, have made it possible to differentiate many of these conditions and correctly localize the pathology of these lower motor neuron disorders to the anterior horn cells, the peripheral nerves, and/or the muscles.1 Primary muscle disease is the most frequent cause of progressive muscular weakness in children with neuromuscular disorders.2 The primary myopathies are either hereditary or acquired. The muscular dystrophies and the myotonic syndrome are representative of the genetic variety, while the acquired disorders are recognized clinically as polymyositis and dermatomyositis.

scholarly journals Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate

2017 ◽  
Vol 13 (2) ◽  
pp. 172-174 ◽  
Author(s):  
S. Koirala ◽  
A. Poudel ◽  
R. Basnet ◽  
K. Subedi
Keyword(s):  
Respiratory Rate ◽  
Pompe Disease ◽  
Clinical Findings ◽  
Diagnostic Challenge ◽  
Floppy Infant ◽  
History Of ◽  
Infantile Pompe Disease ◽  
High Index Of Suspicion ◽  
To Receive ◽  
Remote Part

Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and cough in the recent earthquake disaster camp at remote part of Sindhupalchowk, Nepal. He was being treated as a case of pneumonia.Pompe disease can be diagnosed clinically by taking detailed history and correlating the clinical findings during the presentation with other symptoms. In our case the normal respiratory rate, reduced Spo2 and presence of crackles dominated the hypotonia and was mistreated as pneumonia. High index of suspicion is necessary in diagnosing Pompe disease.

scholarly journals Severe scorpion envenomation in Brazil: clinical, laboratory and anatomopathological aspects

1994 ◽  
Vol 36 (1) ◽  
pp. 67-76 ◽  
Author(s):  
Palmira Cupo ◽  
Mauro Jurca ◽  
Marisa M. Azevedo-Marques ◽  
João Samuel M. Oliveira ◽  
Sylvia E. Hering
Keyword(s):  
Heart Failure ◽  
Pulmonary Edema ◽  
Continuous Monitoring ◽  
Cardiac Involvement ◽  
Clinical Laboratory ◽  
Laboratory Data ◽  
Scorpion Envenomation ◽  
The Hours ◽  
Scorpion Stings

Scorpion stings in Brazil are important not only because of their incidence but also for their potential ability to induce severe, and often fatal, clinical situations, especially among children. In this report we present the clinical and laboratory data of 4 patients victims of scorpion stings by T. serrulatus, who developed heart failure and pulmonary edema, with 3 of them dying within 24 hours of the sting. Anatomopathologic study of these patients revealed diffuse areas of myocardiocytolysis in addition to pulmonary edema. The surviving child presented enzymatic, electrocardiographic and echocardiographic changes compatible with severe cardiac involvement, which were reversed within 5 days. These findings reinforce the need for continuous monitoring of patients with severe scorpion envenoming during the hours immediately following the sting.

scholarly journals Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Circulation ◽  
2017 ◽  
Vol 136 (13) ◽  
Author(s):  
Brian Feingold ◽  
William T. Mahle ◽  
Scott Auerbach ◽  
Paula Clemens ◽  
Andrea A. Domenighetti ◽  
...  
Keyword(s):  
American Heart Association ◽  
Cardiac Involvement ◽  
American Heart ◽  
Neuromuscular Diseases ◽  
Heart Association ◽  
Scientific Statement

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. 

Organ-on-a-chip technologies to study neuromuscular disorders: possibilities, limitations, and future hopes

2021 ◽  
Vol 33 (3) ◽  
pp. 261-267
Author(s):  
Marlen C. Lauffer
Keyword(s):  
Stem Cells ◽  
Pluripotent Stem Cells ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Disease Mechanisms ◽  
Modeling Systems ◽  
Therapy Development ◽  
Organ On A Chip ◽  
Induced Pluripotent ◽  
Shed Light

Abstract Neuromuscular disorders are a heterogeneous group of diseases ranging from mild to devastating phenotypes depending on the disorder’s origin. Pathophysiologies for many of these disorders are not fully understood and efficient therapies are urgently needed. Recent advances in the field of induced pluripotent stem cells and organ-on-a-chip technologies have brought enormous improvement in modeling neuromuscular diseases. Even complex units, like the neuromuscular junction, can now be built, enabling researchers to study each component of the motor unit by itself or interacting with others, allowing the identification of disease mechanisms. This article aims to introduce these new modeling systems to study neuromuscular disorders and the possibilities of organ-on-a-chip platforms to shed light on disease pathologies and their use for therapy development.

scholarly journals Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Silvia Mongodi ◽  
Gaia Ottonello ◽  
Raffaelealdo Viggiano ◽  
Paola Borrelli ◽  
Simona Orcesi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Clinical Judgment ◽  
Statistical Significance ◽  
Neuromuscular Disorders ◽  
Univariate Analysis ◽  
Neuromuscular Diseases ◽  
Neuropsychiatric Disorders ◽  
University Hospital ◽  
Respiratory Complications ◽  
Asa Score

Abstract Background Children require anesthesia for MRI to maintain immobility and reduce discomfort; clear indications about the best anesthesiologic management are lacking and each center developed its own protocol. Moreover, children with neuropsychiatric disorders more likely require sedation and are described in literature as more prone to general and respiratory complications. Aim of this study was to analyze the applicability of a sevoflurane-based approach, to describe general and respiratory complications and to identify risk factors in a pediatric neuropsychiatric population. Methods Retrospective cohort study, university Hospital (January 2007–December 2016). All the 1469 anesthesiologic records of children addressed from Neuropsychiatric Unit to undergo MRI under general anesthesia were analyzed; 12 patients equal or older than 18-year-old were excluded. We identified post-hoc nine macro-categories: static encephalopathies, metabolic/evolutive encephalopathies, epileptic encephalopathies, neuromuscular diseases, autistic spectrum disorders, migraine, psychiatric disorders, intellectual disabilities, others. A logistic regression model for events with low frequency (Firth’s penalized likelihood approach) was carried out to identify the mutually adjusted effect among endpoints (complications) and the independent variables chosen on the basis of statistical significance (univariate analysis, p ≤ 0.05) and clinical judgment. Results Of 1457 anesthesiologic records (age 4.0 (IQR 2.0 to 7.0) year-old, males 891 (61.2%), weight 17.0 (IQR 12.0 to 24.9) kg), 18 were cancelled for high anesthesiologic risk, 50 were cooperative, 1389 were anesthetized. A sevoflurane-based anesthesia was feasible in 92.3%; these patients required significantly less mechanical ventilation (8.6 vs. 16.2%; p = 0.012). Complications’ rate was low (6.2%; 3.1% respiratory). The risk for general complications increases with ASA score > 1 (OR 2.22, 95 CI% 1.30 to 3.77, p = 0.003), male sex (OR 1.73, 95% CI 1.07 to 2.81, p = 0.025), multi-drug anesthesia (OR 2.98, 95 CI% 1.26 to 7.06, p = 0.013). For respiratory complications, it increases with ASA score > 1 (OR 2.34, 95 CI% 1.19 to 4.73, p = 0.017), autumn-winter (OR 2.01, 95 CI% 1.06 to 3.78, p = 0.030), neuromuscular disorders (OR 3.18, 95 CI% 1.20 to 8.41, p = 0.020). We had no major complications compromising patients’ outcome or requiring admission to ICU. Conclusions Sevoflurane anesthesia is feasible and safe for children affected by neuropsychiatric disorders undergoing MRI. Specific risk factors for general and respiratory complications should be considered.

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