Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology最新文献

{"title":"Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.","authors":"Giulio Gadaleta, Guido Urbano, Enrica Rolle, Ana Töpf, Liliana Vercelli","doi":"10.36185/2532-1900-502","DOIUrl":"10.36185/2532-1900-502","url":null,"abstract":"<p><strong>Introduction and aims: </strong>We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures.</p><p><strong>Results: </strong>A 71-year-old man was referred with limb-girdle/axial myopathy and fatigability since infancy. In his thirties, a decremental response was observed at 3Hz-nerve stimulation, although testing seronegative for anti-neuromuscular junction antibodies. Later, whole exome sequencing (WES)identified a homozygous likely pathogenic variant in COLQ. After 6-month ephedrine treatment, the patient doubled the distance in the 6-minute-walk test and reached 10 metres in half of the time. His forced vital capacity (FVC) and first-second-forced expiratory volume (FEV1) increased, as well as all patient-reported outcomes. At the 12-month mark, the overall improvement remained consistent/further enhanced, except for a slight decrease in FVC.</p><p><strong>Conclusions: </strong>This case confirms the efficacy of ephedrine treatment with global improvements in a COLQ-CMS in their late adulthood, demonstrated by quantitative outcome measures. Such indicators may be of interest in upcoming CMS therapeutical trials.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"116-118"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients.","authors":"Luca Bello, Valeria Sansone, Riccardo Masson, Claudio Bruno","doi":"10.36185/2532-1900-637","DOIUrl":"10.36185/2532-1900-637","url":null,"abstract":"","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"114-115"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.","authors":"Carola Hedberg-Oldfors, Elizabeth Jennions, Kittichate Visuttijai, Anders Oldfors","doi":"10.36185/2532-1900-558","DOIUrl":"10.36185/2532-1900-558","url":null,"abstract":"<p><strong>Objective: </strong>We investigated myosin heavy chain (MyHC) isoform expression at early postnatal stages of clinically and genetically confirmed spinal muscular atrophy type 1 (SMA1) patients, in order to study the muscle fibre differentiation compared to age-matched controls at single fibre level.</p><p><strong>Methods: </strong>Open skeletal muscle biopsies were performed from the quadriceps muscle in four SMA1 patients and three age-matched controls. Standard techniques were used for immunohistochemistry of embryonic and foetal MyHCs. Type I, IIa and IIx MyHCs were assessed by applying quadruple immunofluorescence. Western blot was performed to analyse the amount of survival motor neuron (SMN) protein in the muscle samples.</p><p><strong>Results: </strong>There were profound and early alterations in MyHC expression from 7 days of life compared to age-matched controls. The expression of type IIx MyHC was completely lost in SMA1 and instead developmental isoforms remained highly expressed. Foetal MyHC was still, at 3.5 months of age, expressed in the majority of muscle fibres in SMA1 patients, whereas it was completely downregulated in age-matched controls. The level of SMN protein was reduced in all SMN1 patients.</p><p><strong>Conclusions: </strong>The abnormal pattern of MyHC expression in postnatal stages of SMA1 was observed early in the newborn period, which may have implications for the effects of gene therapy, since there are clear clinical benefits from early treatment. Whether such aberrant and delayed expression of MyHCs can be completely restored by postnatal gene therapy remains to be studied and may also have implications for new phenotypes that will evolve with new therapies.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"89-94"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience.","authors":"Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D'Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco","doi":"10.36185/2532-1900-447","DOIUrl":"10.36185/2532-1900-447","url":null,"abstract":"<p><strong>Objectives: </strong>Duchenne Muscular Dystrophy (DMD) is a severe, progressive, X-linked disorder resulting in muscle wasting, progressive functional loss and cardiomyopathy. Therapeutic strategies feature glucocorticoid corticosteroids plus gene therapy/stop codon read-through, plus standards of care. Prolonged survival, delayed loss of ambulation (LoA), and innovative treatment prescriptions pose new clinical challenges, including identification of new outcome measures/targets and implementation of continuity of care.</p><p><strong>Methods: </strong>We report on the results of an Italian experts' meeting held in Rome, Italy on 20^th April 2022. We aimed to: discuss challenges linked to transitioning from the ambulatory to the non-ambulatory phase, and from pediatric to adult care; collect experience on the importance of ongoing care and treatment in advanced disease stages and on the need to measure clinically relevant outcomes during disease progression after LoA.</p><p><strong>Results: </strong>Following LoA the main management focus shifts to cardiac, respiratory, orthopaedics, nutrition and upper limbs function. More data on clinical needs, available treatments, standards of care, frequency of follow-up, and transition should be collected in order to facilitate management optimisation. Shared protocols should be developed, especially to improve patients' management in the acute setting.</p><p><strong>Conclusions: </strong>Transition from paediatric to adult services and from the ambulatory to the non-ambulatory phase require a multidisciplinary approach and the Identification of clinically meaningful outcome measures, which should be described in long-term longitudinal studies.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"102-107"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Focal myositis: a literature review of clinical and immunopathological aspects.","authors":"Alessia Pugliese, Alba Migliorato, Adele Barbaccia, Fiammetta Biasini, Olimpia Musumeci, Antonio Toscano, Carmelo Rodolico","doi":"10.36185/2532-1900-536","DOIUrl":"10.36185/2532-1900-536","url":null,"abstract":"<p><strong>Objectives: </strong>Focal myositis (FM) is a rare and restricted skeletal muscle inflammation, presenting as a solid mass with a typical lower leg localization and benign prognosis. In most cases the process solves spontaneously or after immunosuppressant therapy, but sometimes it recurs or progresses to a systemic inflammation. The basis of the disease are mostly unknown.</p><p><strong>Methods: </strong>Hence, we provide an update of histopathological features of FM, in order to better define the underlying pathomechanisms of this disorder. A PubMed literature search was focused on the case reports published in English from July 1977 to December 2023.</p><p><strong>Results: </strong>FM and other myositis may show similar morphological features. Emerging studies on MMP molecules and future eventual research on microRNAs (miRNAs) could help in differential diagnosis.</p><p><strong>Conclusions: </strong>Clinical, laboratory, neurophysiological and imaging findings can allow a correct diagnosis. However, muscle biopsy seems to be the only diagnostic tool to differentiate among FM and other localized soft tissue masses.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"108-113"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise.","authors":"Marika Pane, Enrico S Bertini, Eleonora Russo, Francesca Gatto, Roberto Di Virgilio, Federico Spandonaro, Daniela d'Angela, Barbara Polistena, Margherita d'Errico","doi":"10.36185/2532-1900-487","DOIUrl":"10.36185/2532-1900-487","url":null,"abstract":"<p><strong>Objectives: </strong>Duchenne muscular dystrophy (DMD) is a heritable disorder that causes a rapid and progressive loss of ambulatory skills. There is no curative therapy for this pathology, that is currently managed with a combination of physiotherapy and pharmacological interventions limiting the progression of the disease (e.g. corticosteroids, cardiac medications). However, a new opportunity is represented by gene therapy, a promising treatment that, however, requires significant expertise during the whole delivery of care and a solid organisational infrastructure. An organisational strategy that could effectively support its delivery to DMD patients in Italy is the hub-and-spoke model. However, an accurate portrait of the present network of DMD centres of expertise in Italy and of their readiness in the delivery of gene therapy is paramount, to facilitate access to this experimental medicine in the future.</p><p><strong>Methods: </strong>In this context, the present study aimed to map the DMD centres of expertise in Italy and later evaluate their preparedness in terms of gene therapy delivery. For this purpose, a series of items was proposed to 30 centres in Italy, of which 20 responded.</p><p><strong>Results: </strong>After assessing the readiness of the involved centres in terms of patient preparation, therapy infusion, close surveillance, and long-term follow-up, we proposed a suitable organizational model, namely a flexible hub-and-spoke model, for the delivery of gene therapy in the Italian DMD network and solutions to tackle the challenges emerged from the survey.</p><p><strong>Conclusion: </strong>Overall, the present study detected an adequate readiness of the Italian DMD centres of expertise, despite observing a significant room for improvement in digital infrastructures, culture, and training.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 3","pages":"95-101"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing respiratory function in neuromuscular disease: the role of non-invasive ventilation. A narrative review.","authors":"Paolo Banfi, Agata Alba Maria Domenica Buscemi, Elena Compalati, Martina Pisoni, Marco Mantero, Agata Lax","doi":"10.36185/2532-1900-506","DOIUrl":"10.36185/2532-1900-506","url":null,"abstract":"<p><p>Neuromuscular diseases (NMDs) comprise a heterogeneous group of conditions characterized by extreme progressive muscle weakness leading to respiratory failure. Noninvasive mechanical ventilation (NIV) has emerged as a cornerstone in the management of respiratory complications associated with NMDs. This review aims to elucidate the role of NMV in respiratory function, improving quality of life, and prolonging survival in individuals with NMD. The physiological basis of respiratory impairment in NMDs, principles of NMV application, evidence supporting its efficacy, patient selection criteria, and potential challenges in its application are discussed.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 2","pages":"78-82"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review.","authors":"Pierre Singer","doi":"10.36185/2532-1900-405","DOIUrl":"10.36185/2532-1900-405","url":null,"abstract":"<p><strong>Objectives: </strong>Non-invasive ventilation use is increasing in patients from acute respiratory failure. However, nutritional assessment and medical nutritional therapy are often missed and patients may be frequently underfed. This review evaluates the tools for nutritional screening and assessment, assesses the use of medical nutritional therapy in various techniques of non invasive ventilation and suggested tools to improve this therapy.</p><p><strong>Methods, results: </strong>A review of the literature was performed to evaluate the tools available to define malnutrition and determine the energy needs of patients requiring non invasive ventilation. Energy and protein intake was assessed in 16 recent papers. High Flow Nasal Cannula Oxygen therapy and non invasive ventilation using mask were described and nutritional therapy determined in each condition.</p><p><p>The Global Leadership International Malnutrition Assessment seems to be the best assessment to be recommended. Energy expenditure is optimally obtained by indirect calorimetry. Patients with Non invasive ventilation are even more underfed than patients receiving High Flow Nasal Cannula Oxygen therapy.</p><p><strong>Conclusions: </strong>A better determination of malnutrition, a more adequate energy requirement and an improved energy and protein administration are required in patients with acute respiratory failure treated with non invasive ventilation.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 2","pages":"57-61"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead.","authors":"Maria Luisa de Candia, Antonietta Coppola, Gualtiero Ermando Romano, Giovanna Elisiana Carpagnano, Paola Pierucci","doi":"10.36185/2532-1900-431","DOIUrl":"10.36185/2532-1900-431","url":null,"abstract":"<p><strong>Introduction: </strong>Neuromuscular diseases (NMD) include different types of diseases depending on the deficient component of the motor unit involved. They may all be interested by a progressive and sometimes irreversible pump respiratory failure which unfortunately for some NMD may start soon after the diagnosis. Within this vast group of patients those affected by muscle diseases are a subgroup who comprises patients with an average earlier onset of symptoms compared to other NMD. Indeed it is also important to comprehend not just the patient's burden but also the surrounding families'. Defining the end of life (EoL) phase in these patients is not simple especially in the young patient population. Consequently, the late stage of disease remains poorly defined and challenging.</p><p><strong>Objectives: </strong>The aim of this review is to describe the EoL phase in NMD patients with attention to QoL and psycological status.</p><p><strong>Methods: </strong>The focus would be on one hand on the management of the psychological burden, the communication barriers, and tone of humor.</p><p><strong>Results: </strong>Those topics have been described being crucial in this group of patients as they increase tensions and burden of both patient and family, and between them and the outside world. Thus also causing their social isolation, increasing anxiety and reducing their quality of life. On the other hand the use of cough clearance devices and all the respiratory supports and their withdrawn are carefully evaluated in the view of alleviating respiratory symptoms, improving patient quality of life and above all reaching the patient's goals of care.</p><p><strong>Conclusions: </strong>Although there is no cure, the advent of supportive interventions including multidisciplinary care (MDC) has improved all the aspects of dying for patients affected by NMD; nevertheless there still a long pathway ahead.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 2","pages":"71-77"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases.","authors":"Anna Annunziata, Antonietta Coppola, Francesca Simioli, Lidia Atripaldi, Antonella Marotta, Antonio Esquinas, Giuseppe Fiorentino","doi":"10.36185/2532-1900-553","DOIUrl":"10.36185/2532-1900-553","url":null,"abstract":"<p><p>The neuromuscular patients may experience the need for respiratory support due to the onset of respiratory failure. Some skills are essential to achieve therapeutic success. In addition to technical knowledge, it is essential to have knowledge relating to individual neuromuscular diseases. The availability of alternative respiratory supports and various interfaces can be a valuable weapon at different moments in the course of the neuromuscular disease. Furthermore, the doctor-patient relationship plays a key role as does taking care of the patient's psychological sphere.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 2","pages":"48-56"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}