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Advances in Neuromuscular Diseases in Children and Adults - Focus...
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Advances in Neuromuscular Diseases in Children and Adults - Focus on Neurological and Respiratory Issues

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 8448

Special Issue Editors

Prof. Dr. Massimiliano Filosto

E-Mail Website
Guest Editor
Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, 25121 Brescia, Italy
Interests: clinical; diagnostic; pathological and pathophysiological aspects of neuromuscular diseases in-cluding metabolic myopathies (muscle glycogenosis; lipid storage myopathies and mitochondrial diseases); muscular dystrophies neuropathies and motor neuron diseases. (keywords: myopa-thies; peripheral neuropathies; motor neuron diseases)
Special Issues, Collections and Topics in MDPI journals
Dr. Paola Pierucci

E-Mail Website1 Website2
Guest Editor
Cardio Thoracic Department, Respiratory and Sleep Medicine Unit, Azienda Ospedaliero Universitaria Policlinico di Bari, Bari, Italy
Interests: acute and chronic home noninvasive ventilation; clinical and physiologic aspects related to the acute and chronic respiratory failure; neuromuscolar diseases; restrictive chest disease; sleep dis-orders; motor neuron diseases. (keywords: noninvasive ventilation; acute respiratory failure; chronic respiratory failure; neuromuscular diseases)

Special Issue Information

Dear Colleagues,

This Special Issue “Advances in Neuromuscular Diseases in Children and Adults- Focus on Neurological and Respiratory Issues”, will focus on the latest clinical advances in the field of neuromuscular diseases with the specific aim of treating together the aspects that most affect the patient's quality of life and life expectancy in many forms of neuromuscular disease (NMD), namely neurological ones and those related to the dysfunction of the respiratory muscles. The latter ones often requires the aid of noninvasive and invasive ventilation over the course of the disease and this particular aspect can be challenging for patients and physicians involved in their care.

NMD can be divided into hereditary and acquired neuromuscular diseases, and depending on the site of involvement, they can be divided into motor neuron, peripheral nerve, nerve-muscle junction and skeletal muscle diseases. It is a rare group of diseases that affect the physical health of children and adults resulting in sensory impairment and/or motor dysfunction in different areas and to varying degrees, and in severe cases, causing severe motor disability and/or loss of respiratory capacity.

In recent years, new breakthroughs in the molecular characterization and diagnosis of many NMD have been made and, for some NMDs such as SMA, Duchenne muscular dystrophies, glycogenosis type II, personalized molecular therapies or gene therapies are now available.

This new "therapeutic" era has given new impetus to research in the field of NMD and is driving to improve diagnostic accuracy and quality of clinical care for patients.

This Special Issue focuses on understanding the latest advances in neuromuscular diseases (early diagnosis, risk stratification, complications and treatment) and discussing the challenges of current research. Original manuscripts and reviews including but not limited to the following are highly welcome.

  • Diagnosis and management
  • Genetics and phenotype/genotype relation
  • Pathogenic mechanisms
  • Neurological and Respiratory clinical presentation and complications
  • Neurological and Respiratory clinical care and treatment
  • Advances in Noninvasive and Invasive mechanical ventilation
  • New noninvasive ventilatory supports
  • Telemedicine and monitoring of patients with neuromuscular diseases
  • Gene and molecular therapy
  • Motor and Respiratory Rehabilitation

Prof. Dr. Massimiliano Filosto
Dr. Paola Pierucci
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neuromuscular diseases
  • motor neuron diseases
  • peripheral neuropathies
  • myopathies
  • metabolic myopathies
  • muscular dystrophies
  • therapy
  • noninvasive ventilation
  • invasive ventilation
  • noninvasive ventilatory support

Published Papers (4 papers)

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Research

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10 pages, 1006 KiB  
Article
Is Intermittent Abdominal Pressure Ventilation Still Relevant? A Multicenter Retrospective Pilot Study
by Valeria Volpi, Eleonora Volpato, Elena Compalati, Paola Pierucci, Antonello Nicolini, Agata Lax, Laura Fagetti, Anna Annunziata, Rosa Cauteruccio, Giuseppe Fiorentino and Paolo Banfi
J. Clin. Med. 2023, 12(7), 2453; https://doi.org/10.3390/jcm12072453 - 23 Mar 2023
Cited by 1 | Viewed by 966
Abstract
Non-invasive ventilatory support (NVS) is a technique used to reduce respiratory work in neuromuscular diseases, preventing the progression of respiratory failure. NVS is usually administered via a nasal or an oronasal mask, causing discomfort, especially in patients ventilated for more than 16 h/day. [...] Read more.
Non-invasive ventilatory support (NVS) is a technique used to reduce respiratory work in neuromuscular diseases, preventing the progression of respiratory failure. NVS is usually administered via a nasal or an oronasal mask, causing discomfort, especially in patients ventilated for more than 16 h/day. Intermittent abdominal pressure ventilation (IAPV) differs completely from conventional NVS and consists of a portable ventilator and a corset with Velcro closures as the interface. In our study, the practicability and efficacy of IAPV were studied in three Italian centers monitoring 28 neuromuscular patients using IAPV who were then retrospectively analyzed. The primary outcomes were an improvement in hypoxemia and the normalization of hypercapnia, and the secondary outcome was an improvement in quality of life. Data were collected at baseline (T0) and after two hours of ventilation (T1), with follow-ups at three months (T2) and six months (T3). Statistical significance was found for PaCO2 over time (F (2.42) = 7.63, p = 0.001) and PaO2 (W = 0.539, p = 0.033). The time of NVS usage also significantly affected the quality of life (F (2.14) = 6.90, p = 0.010), as seen when comparing T0 and T3. As an alternative ventilation method, IAPV is still relevant today and could become a key part of daytime support, especially for patients who do not tolerate standard daytime NVS with an oral interface. Full article
(This article belongs to the Special Issue Advances in Neuromuscular Diseases in Children and Adults - Focus on Neurological and Respiratory Issues)
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18 pages, 2799 KiB  
Article
Home-Based Adaptation to Night-Time Non-Invasive Ventilation in Patients with Amyotrophic Lateral Sclerosis: A Randomized Controlled Trial
by Eleonora Volpato, Michele Vitacca, Luciana Ptacinsky, Agata Lax, Salvatore D’Ascenzo, Enrica Bertella, Mara Paneroni, Silvia Grilli and Paolo Banfi
J. Clin. Med. 2022, 11(11), 3178; https://doi.org/10.3390/jcm11113178 - 02 Jun 2022
Cited by 6 | Viewed by 1814
Abstract
Background: Initiation to Non-Invasive Ventilation (NIV) in amyotrophic lateral sclerosis (ALS) can be implemented in an inpatient or outpatient setting. Aims: We aimed to evaluate the efficacy of adaptation (the number of needed sessions) to home-based NIV compared to an outpatient one in [...] Read more.
Background: Initiation to Non-Invasive Ventilation (NIV) in amyotrophic lateral sclerosis (ALS) can be implemented in an inpatient or outpatient setting. Aims: We aimed to evaluate the efficacy of adaptation (the number of needed sessions) to home-based NIV compared to an outpatient one in ALS in terms of arterial carbon dioxide (PaCO2) improvement. NIV acceptance (mean use of ≥5 h NIV per night for three consecutive nights during the adaptation trial), adherence (night-time NIV usage for ≥150 h/month), quality of life (QoL), and caregiver burden were secondary outcomes. Methods: A total of 66 ALS patients with indications for NIV were involved in this randomized controlled trial (RCT): 34 underwent NIV initiation at home (home adaptation, HA) and 32 at multiple outpatient visits (outpatient adaptation, OA). Respiratory function tests were performed at baseline (the time of starting the NIV, T0) together with blood gas analysis, which was repeated at the end of adaptation (T1) and 2 (T2) and 6 (T3) months after T1. NIV adherence was measured at T2 and T3. Overnight cardiorespiratory polygraphy, Short Form Health Survey (SF-36), Caregiver Burden Inventory (CBI), Caregiver Burden Scale (CBS), and Zarit Burden Interview (ZBI) were performed at T0, T2, and T3. Results: Fifty-eight participants completed the study. No differences were found between groups in PaCO2 at T1 (p = 0.46), T2 (p = 0.50), and T3 (p = 0.34) in acceptance (p = 0.55) and adherence to NIV at T2 and T3 (p = 0.60 and p = 0.75, respectively). At T2, the patients’ QoL, assessed with SF-36, was significantly better in HA than in OA (p = 0.01), but this improvement was not maintained until T3 (p = 0.17). Conclusions: In ALS, adaptation to NIV in the patient’s home is as effective as that performed in an outpatient setting regarding PaCO2, acceptance, and adherence, which emphasizes the need for further studies to understand the role of the environment concerning NIV adherence. Full article
(This article belongs to the Special Issue Advances in Neuromuscular Diseases in Children and Adults - Focus on Neurological and Respiratory Issues)
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Review

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8 pages, 411 KiB  
Review
Negative-Pressure Ventilation in Neuromuscular Diseases in the Acute Setting
by Anna Annunziata, Cecilia Calabrese, Francesca Simioli, Antonietta Coppola, Martina Flora, Antonella Marotta, Valentina Di Spirito, Francesco Didonna, Marcellino Cicalese and Giuseppe Fiorentino
J. Clin. Med. 2022, 11(9), 2589; https://doi.org/10.3390/jcm11092589 - 06 May 2022
Cited by 3 | Viewed by 3298
Abstract
Mechanical ventilation started with negative-pressure ventilation (NPV) during the 1950s to assist patients with respiratory failure, secondary to poliomyelitis. Over the years, technological evolution has allowed for the development of more comfortable devices, leading to an increased interest in NPV. The patients affected [...] Read more.
Mechanical ventilation started with negative-pressure ventilation (NPV) during the 1950s to assist patients with respiratory failure, secondary to poliomyelitis. Over the years, technological evolution has allowed for the development of more comfortable devices, leading to an increased interest in NPV. The patients affected by neuromuscular diseases (NMD) with chronic and acute respiratory failure (ARF) may benefit from NPV. The knowledge of the available respiratory-support techniques, indications, contraindications, and adverse effects is necessary to offer the patient a personalized treatment that considers the pathology’s complexity. Full article
(This article belongs to the Special Issue Advances in Neuromuscular Diseases in Children and Adults - Focus on Neurological and Respiratory Issues)
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Other

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8 pages, 644 KiB  
Brief Report
The Safety of a High-Flow Nasal Cannula in Neuromuscular Disease Patients with Acute Respiratory Failure: A Retrospective Case-Series Study
by Federico Lionello, Francesco Lapia, Beatrice Molena, Andrea Padoan, Sara Lococo, Giovanna Arcaro, Gabriella Guarnieri and Andrea Vianello
J. Clin. Med. 2023, 12(18), 6061; https://doi.org/10.3390/jcm12186061 - 19 Sep 2023
Cited by 1 | Viewed by 1593
Abstract
(1) Background: Although Non-Invasive Ventilation (NIV) is effective in preventing mortality and endotracheal intubation in patients with Acute Respiratory Failure (ARF) linked to a neuromuscular disorder, its efficacy can be affected by patient intolerance. A High-Flow Nasal Cannula (HFNC) appears to have a [...] Read more.
(1) Background: Although Non-Invasive Ventilation (NIV) is effective in preventing mortality and endotracheal intubation in patients with Acute Respiratory Failure (ARF) linked to a neuromuscular disorder, its efficacy can be affected by patient intolerance. A High-Flow Nasal Cannula (HFNC) appears to have a significant advantage over NIV as far as patient tolerance is concerned. The aim of the study was to investigate HFNC’s safety profile in a group of consecutive Neuromuscular Disease (NMD) patients intolerant to NIV who were admitted to an Intermediate Respiratory Care Unit (IRCU) for ARF. (2) Methods: The clinical course of nine NMD patients intolerant to NIV and switched to HFNC was reported. HFNC was provided during daytime hours and NIV during the night-time to the NIV-intolerant patients. HFNC was utilized 24 h a day in those patients who were intolerant of even nocturnal NIV. (3) Results: HFNC was simple to use and it was well tolerated by all of the patients. Three out of nine patients experienced treatment failure, consisting of the need for ETI and/or death during their IRCU stay. The remaining 6 had a favorable outcome. Treatment failure was linked to the utilization of HFNC 24 h a day. (4) Conclusion: HFNC during the daytime hours, together with nocturnal NIV, seems to be a safe therapeutic approach for NMD patients with ARF. A round-the-clock use of HFNC tends to be linked to a high likelihood of failure. Full article
(This article belongs to the Special Issue Advances in Neuromuscular Diseases in Children and Adults - Focus on Neurological and Respiratory Issues)
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