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

{"title":"Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study.","authors":"Kadalraja Raghavan, Thanasekar Sivakumar, Koji Ichiyama, Naoki Yamamoto, Mangaleswaran Balamurugan, Vidyasagar Devaprasad Dedeepiya, Rajappa Senthilkumar, Senthilkumar Preethy, Samuel Jk Abraham","doi":"10.36185/2532-1900-312","DOIUrl":"https://doi.org/10.36185/2532-1900-312","url":null,"abstract":"<p><strong>Background: </strong>Muscular dystrophies other than Duchenne muscular dystrophy (DMD) are genetic diseases characterized by increasing muscle weakness, loss of ambulation, and ultimately cardiac and respiratory failure. There are currently no effective therapeutics available. Having demonstrated the efficacy of a N-163 strain of Aureobasidium Pullulans (Neu-REFIX) produced B-1, 3-1,6-Glucan in pre-clinical and clinical studies of Duchenne muscular dystrophy (DMD) earlier, we assessed the effectiveness of this novel Beta glucan in the other muscular dystrophies in the present study.</p><p><strong>Methods: </strong>In this 60-day study, six patients with muscular dystrophies other than DMD consumed one 8g gel of Neu-REFIX beta-glucan along with their usual standard of care treatment regimen, and their biomarkers of relevance to muscle function such as serum calcium (SC), creatine phosphokinase (CPK), and alkaline phosphatase (ALP) levels along with functional improvement criteria, which is, Medical research council (MRC) scale and North Star Ambulatory assessment (NSAA), assessed at baseline and following the intervention.</p><p><strong>Results: </strong>After the intervention, the SC levels significantly decreased from a mean baseline value of 9.28 mg/dL to 8.31 mg/dL (p-value = 0.02). With a p-value of 0.29, the mean CPK value dropped from 2192.33 IU/L to 1567.5 IU/L. Following the intervention, the ALP levels dropped from 200.33 to 75.5 U/L (p-value = 0.15). MRC scale improved in three out of six patients. NSAA remained stable. There were no adverse effects.</p><p><strong>Conclusion: </strong>This study has proven the safety of Neu REFIX beta-glucan food supplement and its efficacy in improving both plasma biomarkers and functional parameters of muscle in a short duration of 2 months. Further validation by evaluation of muscle function for a longer duration is recommended to confirm the efficacy of Neu-REFIX food supplement as a potential adjuvant DMT in muscular dystrophies.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 4","pages":"129-134"},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10883324/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974932","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":"PROCEEDINGS OF THE 4^th ENMD CONGRESS E-HEALTH & INNOVATION TO OVERCOME BARRIERS IN NEUROMUSCULAR DISEASES: MunichNovember 2-4, 2023.","authors":"","doi":"10.36185/2532-1900-369","DOIUrl":"10.36185/2532-1900-369","url":null,"abstract":"","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 1 Suppl 2","pages":"13-32"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10773552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139405541","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":"Pregnancy experience in women with spinal muscular atrophy: a case series.","authors":"Roberta Piera Bencivenga, Dario Zoppi, Anna Russo, Emanuele Cassano, Stefano Tozza, Rosa Iodice, Raffaele Dubbioso, Fiore Manganelli, Lucia Ruggiero","doi":"10.36185/2532-1900-316","DOIUrl":"10.36185/2532-1900-316","url":null,"abstract":"<p><p>Many women with spinal muscular atrophy (SMA) types II, III, and IV reach fertile age, and some of them may consider pregnancy. However, limited data are available about the potential effects of pregnancy on the course of SMA and the outcomes of pregnancies in these patients. Furthermore, the use of several disease-modifying therapies for the treatment of all types of SMA is expected to increase the number of female SMA patients considering pregnancy in the coming years. The aim of this report is to provide clinicians with an overview of the patients in our cohort who have experienced pregnancies. We conducted a retrospective analysis on these women, through the administration of a questionnaire, which investigated how they experienced the different stages of the pregnancy. Ten patients (3 SMAII; 7 SMA III) participated in the survey; 40% had pregnancies for a total of nine, six of which were term-pregnancies. The mean age of first pregnancy was 32.5 ± 7.8 years for SMA II patients, and 30.5 ± 2.1 years for SMA III. All pregnancies ended in cesarean sections. Interestingly, the <i>sitters had</i> more frequent complications in pre-term labor and delivery, but the newborns were all healthy. This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"60-64"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815716","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":"Spontaneously resolving late-onset ocular myasthenia related to COVID-19. A case report.","authors":"Cyprian Popescu","doi":"10.36185/2532-1900-288","DOIUrl":"https://doi.org/10.36185/2532-1900-288","url":null,"abstract":"<p><p>Myasthenia gravis (MG) is the most common disease of the neuromuscular junction disorders with bimodal distribution of age, which is often under-estimated in the elderly. Some clinical cases show an association between MG and COVID-19, since molecular mimicry between SARS-CoV-2 and AChR proteins could be responsible for the onset of the disease. We report a 77-year-old woman who developed right eyelid ptosis five days after COVID-19 infection. Positive serum anti-acetylcholine receptor antibodies allowed the diagnosis of myasthenia gravis. It should be noted that there were no significant decremental changes on 3 Hz repetitive motor nerve stimulation study, even for the affected orbicularis oculi muscle. Clinical and pathophysiological data suggest that inflammation during COVID-19 could trigger an overproduction of autoantibodies previously present in the body at a subclinical level. This is the first case of COVID-19 infection complicated by myasthenia gravis, to the best of our knowledge, that resolves spontaneously.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"89-91"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815719","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":"Cognitive function in DMD carriers: personal case series and literature review.","authors":"Laura Carraro, Arianna Iosca, Maria Irene Dainesi, Sara Fusco, Daniela Pia Rosaria Chieffo, Federica Moriconi, Giulia d'Amario, Marika Pane, Eugenio Mercuri, Angela Berardinelli","doi":"10.36185/2532-1900-354","DOIUrl":"https://doi.org/10.36185/2532-1900-354","url":null,"abstract":"<p><p>Improvement in clinical conditions allowed physicians to pay more attention to the cognitive function in DMD patients, leading to description of a cognitive impairment not only in affected males, but in female carriers as well. This study aimed to investigate the cognitive involvement in a cohort of DMD carriers and to summarize the current knowledge about the intellectual involvement and neuropsychological profile in DMD/BMD carriers. Our case series consisted of 22 carrier patients from two different centers (IRCCS Mondino, Pavia and Policlinico Gemelli, Rome), for whom we retrospectively collected cognitive, clinical and genetic data. For literature review, we selected 9 studies published in English language from 2011 to 2023 and cited in PubMed. We found that the average IQ of DMD carriers was lower (74; very low) than the average score on normal curve (100 as average standard score). Furthermore, about 50% of them fell in the \"extremely low IQ\" range, compared with 2-3% of general population. A higher incidence of intellectual disability was confirmed in symptomatic DMD carriers (mean IQ 66; extremely low) from IRCCS Mondino, but not in the asymptomatic ones (mean IQ 99; average), when compared to the general population. Current literature, albeit limited, seems to confirm the presence of a cognitive impairment in carriers, although milder than in affected males but with a similar neuropsychological profile. However, further studies are necessary to delve deeper into this issue and provide adequate educational support.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"53-59"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815714","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":"Sequential treatment with nusinersen, Zolgensma^® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report.","authors":"Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone","doi":"10.36185/2532-1900-356","DOIUrl":"https://doi.org/10.36185/2532-1900-356","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments. A 4-months-old girl with SMA type 1 and two copies of SMN2 was started on treatment with nusinersen resulting in significant improvement in her motor and respiratory function. However, after six doses, treatment was changed to Zolgensma^® due to caregiver's decision. In the months following the administration, the patient showed significant clinical improvement in motor performance. After 12 months, the child started therapy with risdiplam in another country. One year after the start of therapy with risdiplam further improvements in both motor and bulbar functions were highlighted. This case report raises a question: is a multiple consecutive theraphy more effective than monotherapy in SMA treatment? These results suggest the need to further explore the potential efficacy of a multidrug treatment.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"82-85"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815718","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":"Fibromyalgia interventions, obstacles and prospects: narrative review.","authors":"Afshan Zeeshan Wasti, Amal M H Mackawy, Amal Hussain, Mohsina Huq, Hanane Ahmed, Anjuman Gul Memon","doi":"10.36185/2532-1900-334","DOIUrl":"https://doi.org/10.36185/2532-1900-334","url":null,"abstract":"<p><p>This review aims to increase awareness and improve understanding, diagnosis, and management of fibromyalgia - a complex, distressing health challenge that significantly impacts people's lives due to its variable nature and lack of clear diagnostic markers. Healthcare professionals must assist those with this condition and improve their general quality of life. Further, they can do a lot to improve the lives of people with Fibromyalgia by resolving diagnostic hurdles, promoting collaboration, supporting patient advocacy, advancing medical technology, and adopting novel approaches.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"71-81"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815715","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":"Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients.","authors":"Giulia Ricci, Francesca Torri, Alessandra Govoni, Roberto Chiappini, Laura Manca, Gabriele Vadi, Stefano Roccella, Francesca Magri, Megi Meneri, Federica Fassini, Veria Vacchiano, Silvia Tomassini, Noemi Gironella, Michela Coccia, Giacomo Comi, Rocco Liguori, Gabriele Siciliano","doi":"10.36185/2532-1900-330","DOIUrl":"https://doi.org/10.36185/2532-1900-330","url":null,"abstract":"<p><strong>Objective: </strong>Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease affecting the lower motor neuron, carrying a significant burden on patients' general motor skills and quality of life, characterized by a great variability in phenotypic expression. As new therapeutic options make their appearance on the scene, sensitive clinical tools and outcome measures are needed, especially in adult patients undergoing treatment, in which the expected clinical response is a mild improvement or stabilization of disease progression.</p><p><strong>Methods: </strong>Here, we describe a new functional motor scale specifically designed for evaluating the endurance dimension for the upper and lower limbs in adult SMA patients.</p><p><strong>Results: </strong>The scale was first tested in eight control healthy subjects and then validated in ten adult SMA patients, proving intra- and inter-observer reliability. We also set up an evaluation protocol by using wearable devices including surface EMG and accelerometer.</p><p><strong>Conclusions: </strong>The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"65-70"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815717","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":"An unusual way to improve lung function in congenital myopathies: the power of singing.","authors":"Maria Rosaria Valentino, Anna Annunziata, Lidia Atripaldi, Giuseppe Fiorentino","doi":"10.36185/2532-1900-357","DOIUrl":"https://doi.org/10.36185/2532-1900-357","url":null,"abstract":"<p><p>Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be present at birth or appear in infancy, and a static or slowly progressive clinical course may present with muscle weakness, loss of spontaneous movement, involuntary muscle activity, and muscle atrophy. Often patients develop a restrictive syndrome and respiratory failure and require respiratory support In our case, we described lung improvement and respiratory muscle training due to singing in a young patient, affected by CMs with a poor adherence to non-invasive mechanical ventilation.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"86-88"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815713","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 atrial and ventricular myocardial proteome of end-stage lamin heart disease.","authors":"Constantin-Cristian Topriceanu, Mashael Alfarih, Alun D Hughes, Hunain Shiwani, Fiona Chan, Saidi A Mohiddin, William Moody, Richard P Steeds, Benjamin O'Brien, Jakob Vowinckel, Petros Syrris, Caroline Coats, Stephen Pettit, Eloisa Arbustini, James C Moon, Gabriella Captur","doi":"10.36185/2532-1900-339","DOIUrl":"https://doi.org/10.36185/2532-1900-339","url":null,"abstract":"<p><p>Lamins A/C (encoded by <i>LMNA</i> gene) can lead to dilated cardiomyopathy (DCM). This pilot study sought to explore the postgenomic phenotype of end-stage lamin heart disease. Consecutive patients with end-stage lamin heart disease (LMNA-group, n = 7) and ischaemic DCM (ICM-group, n = 7) undergoing heart transplantation were prospectively enrolled. Samples were obtained from left atrium (LA), left ventricle (LV), right atrium (RA), right ventricle (RV) and interventricular septum (IVS), avoiding the infarcted myocardial segments in the ICM-group. Samples were analysed using a discovery 'shotgun' proteomics approach. We found that 990 proteins were differentially abundant between LMNA and ICM samples with the LA being most perturbed (16-fold more than the LV). Abundance of lamin A/C protein was reduced, but lamin B increased in LMNA LA/RA tissue compared to ICM, but not in LV/RV. Carbonic anhydrase 3 (CA3) was over-abundant across all LMNA tissue samples (LA, LV, RA, RV, and IVS) when compared to ICM. Transthyretin was more abundant in the LV/RV of LMNA compared to ICM, while sarcomeric proteins such as titin and cardiac alpha-cardiac myosin heavy chain were generally less abundant in RA/LA of LMNA. Protein expression profiling and enrichment analysis pointed towards sarcopenia, extracellular matrix remodeling, deficient myocardial energetics, redox imbalances, and abnormal calcium handling in LMNA samples. Compared to ICM, end-stage lamin heart disease is a biventricular but especially a biatrial disease appearing to have an abundance of lamin B, CA3 and transthyretin, potentially hinting to compensatory responses.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 2-3","pages":"43-52"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10712656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815720","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}