Pub Date : 2023-09-30eCollection Date: 2023-01-01DOI: 10.36185/2532-1900-334
Afshan Zeeshan Wasti, Amal M H Mackawy, Amal Hussain, Mohsina Huq, Hanane Ahmed, Anjuman Gul Memon
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.
{"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":null,"pages":null},"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}
Objective: 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.
Methods: 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.
Results: 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.
Conclusions: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.
目的：脊髓性肌肉萎缩症（SMA）是一种影响下运动神经元的遗传性神经肌肉疾病，对患者的一般运动技能和生活质量造成严重影响，其表型表现具有很大的变异性。方法：在此，我们介绍了一种新的运动功能量表，该量表专门用于评估成年 SMA 患者上下肢的耐力维度：该量表首先在八名健康对照组受试者中进行了测试，然后在十名成年 SMA 患者中进行了验证，证明了观察者内部和观察者之间的可靠性。我们还利用表面肌电图和加速度计等可穿戴设备制定了评估方案：结论：耐力评估应与标准临床监测相结合，用于 SMA 成年患者的管理和随访。
{"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":null,"pages":null},"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}
Pub Date : 2023-09-30eCollection Date: 2023-01-01DOI: 10.36185/2532-1900-357
Maria Rosaria Valentino, Anna Annunziata, Lidia Atripaldi, Giuseppe Fiorentino
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.
{"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":null,"pages":null},"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}
Pub Date : 2023-09-30eCollection Date: 2023-01-01DOI: 10.36185/2532-1900-339
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
Lamins A/C (encoded by LMNA 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.
{"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":null,"pages":null},"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}
M. Ripolone, L. Napoli, V. Mantero, M. Sciacco, S. Zanotti
We report the case of a young woman with CMV infection, high level of creatine kinase and myopathy. Electromyography showed a myopathic pattern. Muscle biopsy showed a marked increase of NADH enzymatic activity in the central area of almost all type I fibres, few degenerative and necrotic fibres and scattered mononuclear cell infiltrates. Ultrastructural analysis showed a marked disarrangement of sarcomeric structure and large inclusions of thin filaments in some fibres, while immunohistochemistry evidenced alteration in desmin, actin and αB-crystallin protein signals. PCR for CMV detection on muscle sections was negative. Histological, immunological and ultrastructural evaluations were compatible with a necrotic inflammatory myopathy. The correlations between CMV liver infection and the myopathic pattern are discussed. This case underscores the need to consider CMV infection in the differential diagnosis of myopathy with undetermined aetiology, quickly providing directions for a targeted muscle pharmacological intervention.
我们报告的情况下，年轻妇女巨细胞病毒感染，高水平的肌酸激酶和肌病。肌电图显示肌病型。肌肉活检显示几乎所有I型纤维的中心区域NADH酶活性明显增加，少数退行性和坏死纤维和分散的单核细胞浸润。超微结构分析显示肌肉组织结构明显紊乱，部分纤维中有大量细丝包涵，免疫组化显示desmin、actin和α b -晶体蛋白信号改变。肌肉切片CMV PCR检测结果为阴性。组织学、免疫学和超微结构评价与坏死性炎症性肌病一致。讨论了巨细胞病毒肝脏感染与肌病类型的相关性。该病例强调了在病因不明的肌病鉴别诊断中考虑巨细胞病毒感染的必要性，为有针对性的肌肉药物干预提供了快速指导。
{"title":"Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review.","authors":"M. Ripolone, L. Napoli, V. Mantero, M. Sciacco, S. Zanotti","doi":"10.36185/2532-1900-068","DOIUrl":"https://doi.org/10.36185/2532-1900-068","url":null,"abstract":"We report the case of a young woman with CMV infection, high level of creatine kinase and myopathy. Electromyography showed a myopathic pattern. Muscle biopsy showed a marked increase of NADH enzymatic activity in the central area of almost all type I fibres, few degenerative and necrotic fibres and scattered mononuclear cell infiltrates. Ultrastructural analysis showed a marked disarrangement of sarcomeric structure and large inclusions of thin filaments in some fibres, while immunohistochemistry evidenced alteration in desmin, actin and αB-crystallin protein signals. PCR for CMV detection on muscle sections was negative. Histological, immunological and ultrastructural evaluations were compatible with a necrotic inflammatory myopathy. The correlations between CMV liver infection and the myopathic pattern are discussed. This case underscores the need to consider CMV infection in the differential diagnosis of myopathy with undetermined aetiology, quickly providing directions for a targeted muscle pharmacological intervention.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90127521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neuromuscular diseases are rare and usually chronic progressive disorders that require a multidisciplinary clinical evaluation and functional monitoring. The patient-physician relationship and therapies are also key elements to be provided. The COVID-19 pandemic dramatically changed the way patients' health was managed and national health care services underwent a radical reorganization. Telemedicine, with the use of Information and Communication Technology (ICT) by health professionals, became the main strategy to ensure the continuation of care. However, the experience regarding the use of Telemedicine in neuromuscular disorders is very limited and the scientific literature is extremely scarce. From the first experiences in the '50s, the development of Telemedicine has been supplemented and supported by the implementation of ICT to guarantee the secure and effective transmission of medical data. Italian national guidelines (2010-2020) describe the technical and professional guarantees necessary to provide Telemedicine services. Nevertheless, at the time the pandemic appeared, no guidelines for clinical evaluation or for the administration of functional scales remotely were available for neuromuscular diseases. This has been a critical point when clinical evaluations were mandatory also for the renewal of drug prescriptions. However, the common opinion that telemedicine basic services were important to overcome the change in medical practice due to COVID-19 in neuromuscular diseases, even in pediatric age, emerged. Moreover, alternative digital modalities to evaluate patients at home in a kind of virtual clinic were considered as a field of future development.
{"title":"Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era.","authors":"M. Giannotta, C. Petrelli, A. Pini","doi":"10.36185/2532-1900-066","DOIUrl":"https://doi.org/10.36185/2532-1900-066","url":null,"abstract":"Neuromuscular diseases are rare and usually chronic progressive disorders that require a multidisciplinary clinical evaluation and functional monitoring. The patient-physician relationship and therapies are also key elements to be provided. The COVID-19 pandemic dramatically changed the way patients' health was managed and national health care services underwent a radical reorganization. Telemedicine, with the use of Information and Communication Technology (ICT) by health professionals, became the main strategy to ensure the continuation of care. However, the experience regarding the use of Telemedicine in neuromuscular disorders is very limited and the scientific literature is extremely scarce. From the first experiences in the '50s, the development of Telemedicine has been supplemented and supported by the implementation of ICT to guarantee the secure and effective transmission of medical data. Italian national guidelines (2010-2020) describe the technical and professional guarantees necessary to provide Telemedicine services. Nevertheless, at the time the pandemic appeared, no guidelines for clinical evaluation or for the administration of functional scales remotely were available for neuromuscular diseases. This has been a critical point when clinical evaluations were mandatory also for the renewal of drug prescriptions. However, the common opinion that telemedicine basic services were important to overcome the change in medical practice due to COVID-19 in neuromuscular diseases, even in pediatric age, emerged. Moreover, alternative digital modalities to evaluate patients at home in a kind of virtual clinic were considered as a field of future development.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85206619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Erika Iori, A. Ariatti, M. Mazzoli, Elisabetta Bastia, M. Gozzi, V. Agnoletto, A. Marchioni, G. Galassi
The study was performed to evaluate the impact of cardiological disorders on the outcome of myasthenic crisis (MC) requiring ventilation. The study includes 90 cases admitted to the Neurology Unit of Modena, Italy (January 2000 - September 2020). All patients were eligible for a non-invasive ventilation (NIV) trial. We analyzed the effect of cardiac comorbidities on the outcomes, which were the need of invasive ventilation, the risk tracheostomy for weaning failure and the duration of intensive care unit (ICU) stay Females were 58.9% and males 41.1%. Median age at diagnosis was 59 and at MC was 65. Patients were classified as early (EOMG) or late (LOMG), 34.4 and 65.6% respectively, according to age above or below 50; 85% of patients were anti- AChR antibody positive. Hypertension and cardiac diseases occurred at the diagnosis in 61 and 44.4%, respectively. Invasive mechanical ventilation (MV) was needed in 34% of cases. Nine subjects (10%) underwent tracheostomy because of weaning failure. Independent predictors of NIV failure were atrial fibrillation (AF), either parossistic or persistent (OR 3.05, p < 0.01), hypertensive cardiopathy (HHD) (OR 2.52, p < 0.01) and ischaemic heart disease (IHD) (OR 3.08, p < 0.01). Hypertension (HT) had no statistical effect on the outcomes. HHD was a predictor of weaning failure (OR 4.01, p = 0.017). Our study shows that HHD, AF and IHD increase the risk of NIV failure in MC receiving ventilation.
该研究是为了评估心脏疾病对需要通气的肌无力危象(MC)结果的影响。该研究包括2000年1月至2020年9月期间意大利摩德纳神经内科收治的90例病例。所有患者均符合无创通气(NIV)试验的条件。我们分析了心脏合并症对结果的影响，包括有创通气需求、气管切开术导致脱机失败的风险和重症监护病房(ICU)住院时间，女性占58.9%，男性占41.1%。诊断时的中位年龄为59岁，MC时的中位年龄为65岁。患者按年龄≥50岁分为早期(EOMG)和晚期(LOMG)，分别占34.4和65.6%;85%的患者抗AChR抗体阳性。诊断时高血压和心脏病发生率分别为61%和44.4%。34%的病例需要有创机械通气(MV)。9例(10%)患者因脱机失败行气管切开术。NIV衰竭的独立预测因子为房颤(AF)，伴发性或持续性房颤(or 3.05, p < 0.01)、高血压性心脏病(or 2.52, p < 0.01)和缺血性心脏病(or 3.08, p < 0.01)。高血压(HT)对结果无统计学影响。HHD是断奶失败的预测因子(OR 4.01, p = 0.017)。我们的研究表明HHD、AF和IHD增加了MC通气后NIV失效的风险。
{"title":"Cardiac disorders worsen the final outcome in myasthenic crisis undergoing non-invasive mechanical ventilation: a retrospective 20-year study from a single center.","authors":"Erika Iori, A. Ariatti, M. Mazzoli, Elisabetta Bastia, M. Gozzi, V. Agnoletto, A. Marchioni, G. Galassi","doi":"10.36185/2532-1900-064","DOIUrl":"https://doi.org/10.36185/2532-1900-064","url":null,"abstract":"The study was performed to evaluate the impact of cardiological disorders on the outcome of myasthenic crisis (MC) requiring ventilation. The study includes 90 cases admitted to the Neurology Unit of Modena, Italy (January 2000 - September 2020). All patients were eligible for a non-invasive ventilation (NIV) trial. We analyzed the effect of cardiac comorbidities on the outcomes, which were the need of invasive ventilation, the risk tracheostomy for weaning failure and the duration of intensive care unit (ICU) stay Females were 58.9% and males 41.1%. Median age at diagnosis was 59 and at MC was 65. Patients were classified as early (EOMG) or late (LOMG), 34.4 and 65.6% respectively, according to age above or below 50; 85% of patients were anti- AChR antibody positive. Hypertension and cardiac diseases occurred at the diagnosis in 61 and 44.4%, respectively. Invasive mechanical ventilation (MV) was needed in 34% of cases. Nine subjects (10%) underwent tracheostomy because of weaning failure. Independent predictors of NIV failure were atrial fibrillation (AF), either parossistic or persistent (OR 3.05, p < 0.01), hypertensive cardiopathy (HHD) (OR 2.52, p < 0.01) and ischaemic heart disease (IHD) (OR 3.08, p < 0.01). Hypertension (HT) had no statistical effect on the outcomes. HHD was a predictor of weaning failure (OR 4.01, p = 0.017). Our study shows that HHD, AF and IHD increase the risk of NIV failure in MC receiving ventilation.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85737185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Coppola, A. Annunziata, E. Sciarrillo, S. Musella, G. Fiorentino
We describe the clinical case of a patient affected by Steinert disease with persistent dyspnea complicated by a complete obstructive atelectasis of left lower lung lobe. The atelectasis has been successfully treated using the TPEP machine, with resolution of radiological pattern and improvement of the symptoms.
{"title":"Temporary positive expiratory pressure (TPEP) as an alternative approach in the treatment of persistent atelectasis in a patient with Steinert disease: a case report.","authors":"A. Coppola, A. Annunziata, E. Sciarrillo, S. Musella, G. Fiorentino","doi":"10.36185/2532-1900-069","DOIUrl":"https://doi.org/10.36185/2532-1900-069","url":null,"abstract":"We describe the clinical case of a patient affected by Steinert disease with persistent dyspnea complicated by a complete obstructive atelectasis of left lower lung lobe. The atelectasis has been successfully treated using the TPEP machine, with resolution of radiological pattern and improvement of the symptoms.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76912079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Iacono, A. Lupica, V. Di Stefano, E. Borgione, F. Brighina
McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene (PYGM) resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia, and intolerance to physical exercise, although late onset forms are also reported. We describe a case of a 17-year-old male complaining of cramps and myalgia following brief and intense exercise. The patient reported marked improvement in muscle fatigability few minutes after starting aerobic exercise. When he was a child, he had experienced few episodes of vomiting, nausea, and black colored urine following physical activity. Laboratory testings revealed high creatine kinase serum levels. Genetic testings for metabolic myopathies demonstrated a compound heterozygous for two PYGM mutations (p.R570Q and p.K754Nfs*49) allowing the diagnosis of McArdle's disease. To date, 183 mutations in the PYGM gene are listed in Human Gene Mutation Database Professional 2021.2, but this novel compound heterozygosis has never been reported before.
{"title":"A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.","authors":"S. Iacono, A. Lupica, V. Di Stefano, E. Borgione, F. Brighina","doi":"10.36185/2532-1900-067","DOIUrl":"https://doi.org/10.36185/2532-1900-067","url":null,"abstract":"McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene (PYGM) resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia, and intolerance to physical exercise, although late onset forms are also reported. We describe a case of a 17-year-old male complaining of cramps and myalgia following brief and intense exercise. The patient reported marked improvement in muscle fatigability few minutes after starting aerobic exercise. When he was a child, he had experienced few episodes of vomiting, nausea, and black colored urine following physical activity. Laboratory testings revealed high creatine kinase serum levels. Genetic testings for metabolic myopathies demonstrated a compound heterozygous for two PYGM mutations (p.R570Q and p.K754Nfs*49) allowing the diagnosis of McArdle's disease. To date, 183 mutations in the PYGM gene are listed in Human Gene Mutation Database Professional 2021.2, but this novel compound heterozygosis has never been reported before.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85210345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Ricci, F. Torri, F. Bianchi, L. Fontanelli, E. Schirinzi, Elisa Gualdani, P. Francesconi, Delia Gagliardi, G. Serra, T. Mongini, G. Siciliano
Almost 90% of neuromuscular diseases (NMDs) are classified as rare diseases, defined as conditions affecting less than 5 individuals in 10.000 (0.05%). Their rarity and diversity pose specific challenges for healthcare and research. Epidemiological data on NMDs are often lacking and incomplete. The COVID-19 pandemic has further highlighted the management difficulties of NMDs patients and the necessity to continue the program of implementation of standard of care. This article summarizes the Italian experience during pandemic.
{"title":"Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still \"invisible\"?","authors":"G. Ricci, F. Torri, F. Bianchi, L. Fontanelli, E. Schirinzi, Elisa Gualdani, P. Francesconi, Delia Gagliardi, G. Serra, T. Mongini, G. Siciliano","doi":"10.36185/2532-1900-065","DOIUrl":"https://doi.org/10.36185/2532-1900-065","url":null,"abstract":"Almost 90% of neuromuscular diseases (NMDs) are classified as rare diseases, defined as conditions affecting less than 5 individuals in 10.000 (0.05%). Their rarity and diversity pose specific challenges for healthcare and research. Epidemiological data on NMDs are often lacking and incomplete. The COVID-19 pandemic has further highlighted the management difficulties of NMDs patients and the necessity to continue the program of implementation of standard of care. This article summarizes the Italian experience during pandemic.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75719002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号