首页 > 最新文献

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

英文 中文
Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man. 麻黄碱治疗 COLQ 相关先天性肌无力综合征(CMS)的疗效:对一名 71 岁男性的纵向定量评估。
Giulio Gadaleta, Guido Urbano, Enrica Rolle, Ana Töpf, Liliana Vercelli

Introduction and aims: We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures.

Results: 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.

Conclusions: 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.

简介和目的:我们描述了一例长期存活的 COLQ 相关先天性肌无力综合征(CMS)病例,该病例从麻黄碱中获益,并通过功能测量量化了总体改善情况:一名 71 岁的男子因肢体腰/轴肌病和自婴儿期以来的疲劳症状而转诊。在他三十多岁时,虽然抗神经肌肉接头抗体检测呈血清阴性,但在 3Hz 神经刺激下观察到反应减弱。后来,全外显子组测序(WES)确定了 COLQ 的一个可能致病的同源变体。经过 6 个月的麻黄碱治疗后,患者在 6 分钟步行测试中的距离增加了一倍,在一半的时间内走到了 10 米。他的用力肺活量(FVC)和第一秒用力呼气容积(FEV1)以及所有患者报告的结果都有所增加。12 个月后,除了 FVC 略有下降外,总体改善情况保持一致/进一步增强:本病例证实了麻黄碱治疗的疗效,通过定量结果测量,患者在成年晚期的 COLQ-CMS 有了全面改善。在即将进行的 CMS 治疗试验中,这些指标可能会引起关注。
{"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}
引用次数: 0
The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients. 对非卧床杜氏肌营养不良症患者进行的吉维诺司他表观遗传学拯救肌营养不良症功能研究。
Luca Bello, Valeria Sansone, Riccardo Masson, Claudio Bruno
{"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}
引用次数: 0
Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level. 脊髓性肌萎缩症 I 型出生后早期阶段肌球蛋白重链在单纤维水平上的异常表达。
Carola Hedberg-Oldfors, Elizabeth Jennions, Kittichate Visuttijai, Anders Oldfors

Objective: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

研究目的我们研究了经临床和基因证实的脊髓性肌萎缩症1型(SMA1)患者出生后早期的肌球蛋白重链(MyHC)同工酶表达,以便与年龄匹配的对照组相比,在单纤维水平上研究肌纤维的分化情况:方法:对四名 SMA1 患者和三名年龄匹配的对照组患者的股四头肌进行开放式骨骼肌活检。采用标准技术对胚胎和胎儿 MyHCs 进行免疫组化。通过四重免疫荧光评估了 I、IIa 和 IIx 型 MyHCs。用 Western 印迹法分析了肌肉样本中存活运动神经元(SMN)蛋白的含量:结果:与年龄匹配的对照组相比,出生 7 天的小鼠 MyHC 表达发生了深刻而早期的改变。SMA1完全丧失了IIx型MyHC的表达,而发育异构体仍然高度表达。3.5 个月大时,胎儿 MyHC 仍在 SMA1 患者的大部分肌纤维中表达,而在年龄匹配的对照组中则完全下调。所有SMN1患者的SMN蛋白水平都有所降低:结论:在新生儿期就能观察到SMA1出生后阶段MyHC表达的异常模式,这可能对基因治疗的效果有影响,因为早期治疗有明显的临床益处。出生后基因治疗能否完全恢复这种异常和延迟的 MyHCs 表达仍有待研究,而且还可能对新疗法演变出的新表型产生影响。
{"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}
引用次数: 0
Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience. 杜兴氏肌肉萎缩症患者的过渡和管理:基于意大利专家意见和实际经验的叙述性综述。
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

Objectives: 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.

Methods: We report on the results of an Italian experts' meeting held in Rome, Italy on 20th 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.

Results: 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.

Conclusions: 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.

目标:杜兴氏肌肉萎缩症(DMD)是一种严重的进行性 X 连锁疾病,可导致肌肉萎缩、进行性功能丧失和心肌病。治疗策略包括糖皮质激素、基因治疗/终止密码子通读以及标准护理。延长生存期、延迟丧失行动能力(LoA)和创新治疗处方带来了新的临床挑战,包括确定新的结果衡量标准/目标和实施连续性护理:我们报告了 2022 年 4 月 20 日在意大利罗马举行的意大利专家会议的结果。我们的目的是:讨论从非卧床阶段向卧床阶段过渡以及从儿童护理向成人护理过渡所面临的挑战;收集关于疾病晚期持续护理和治疗的重要性以及在 LoA 后疾病进展期间测量临床相关结果的必要性的经验:结果:LoA 后,主要的管理重点转移到心脏、呼吸、骨科、营养和上肢功能。应收集更多有关临床需求、现有治疗方法、护理标准、随访频率和转归的数据,以促进管理优化。应制定共同协议,特别是改善急性期患者的管理:从儿科到成人服务以及从非卧床阶段到非卧床阶段的过渡需要采用多学科方法,并确定有临床意义的结果衡量标准,这些都应在长期纵向研究中加以描述。
{"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<sup>th</sup> 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}
引用次数: 0
Focal myositis: a literature review of clinical and immunopathological aspects. 局灶性肌炎:临床和免疫病理方面的文献综述。
Alessia Pugliese, Alba Migliorato, Adele Barbaccia, Fiammetta Biasini, Olimpia Musumeci, Antonio Toscano, Carmelo Rodolico

Objectives: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

目的:局灶性肌炎(FM)是一种罕见的局限性骨骼肌炎症:局灶性肌炎(FM)是一种罕见的局限性骨骼肌炎症,表现为典型的小腿局部实性肿块,预后良好。在大多数病例中,该病可自行缓解或在接受免疫抑制剂治疗后缓解,但有时也会复发或发展为全身性炎症。方法:因此,我们提供了有关 FM 组织病理学特征的最新资料,以便更好地界定这种疾病的潜在病理机制。我们对1977年7月至2023年12月期间发表的英文病例报告进行了PubMed文献检索:结果:FM和其他肌炎可能表现出相似的形态学特征。对 MMP 分子的新兴研究以及未来对微小核糖核酸(miRNA)的最终研究有助于鉴别诊断:结论:临床、实验室、神经电生理和影像学检查结果可帮助做出正确诊断。然而,肌肉活检似乎是区分 FM 和其他局部软组织肿块的唯一诊断工具。
{"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}
引用次数: 0
Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise. 杜兴氏肌肉萎缩症的基因治疗:评估意大利专业中心的准备情况。
Marika Pane, Enrico S Bertini, Eleonora Russo, Francesca Gatto, Roberto Di Virgilio, Federico Spandonaro, Daniela d'Angela, Barbara Polistena, Margherita d'Errico

Objectives: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

目标:杜兴氏肌营养不良症(DMD)是一种遗传性疾病,会导致患者迅速并逐渐丧失行动能力。目前尚无根治这种病症的疗法,只能通过物理疗法和限制病情发展的药物干预(如皮质类固醇、心脏病药物等)进行综合治疗。然而,基因疗法带来了新的机遇,这是一种前景广阔的治疗方法,但在整个治疗过程中需要大量的专业知识和坚实的组织基础设施。在意大利,能够有效支持为 DMD 患者提供治疗的组织战略是中心辐射模式。然而,准确了解意大利目前的 DMD 专业中心网络及其在提供基因治疗方面的准备情况至关重要,这样才能为将来获得这种实验性药物提供便利:在此背景下,本研究旨在绘制意大利 DMD 专业中心的地图,随后评估这些中心在提供基因治疗方面的准备情况。为此,研究人员向意大利的 30 个中心提出了一系列问题,其中 20 个中心做出了回应:结果:在对相关中心在患者准备、治疗输注、密切监测和长期随访等方面的准备情况进行评估后,我们提出了一个合适的组织模式,即在意大利 DMD 网络中提供基因治疗的灵活枢纽-辐条模式,以及应对调查中出现的挑战的解决方案:总体而言,本研究发现意大利 DMD 专业中心已做好充分准备,但在数字基础设施、文化和培训方面仍有很大的改进空间。
{"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}
引用次数: 0
Enhancing respiratory function in neuromuscular disease: the role of non-invasive ventilation. A narrative review. 增强神经肌肉疾病患者的呼吸功能:无创通气的作用。叙述性综述。
Paolo Banfi, Agata Alba Maria Domenica Buscemi, Elena Compalati, Martina Pisoni, Marco Mantero, Agata Lax

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.

神经肌肉疾病(NMD)是一组以极度进行性肌无力导致呼吸衰竭为特征的异质性疾病。无创机械通气(NIV)已成为治疗与 NMD 相关的呼吸系统并发症的基石。本综述旨在阐明无创机械通气在改善 NMD 患者呼吸功能、提高生活质量和延长生存期方面的作用。文中讨论了 NMD 呼吸功能障碍的生理基础、NMV 的应用原则、支持其疗效的证据、患者选择标准以及应用过程中可能遇到的挑战。
{"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}
引用次数: 0
Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review. 非插管急性呼吸衰竭患者的营养治疗:综述。
Pierre Singer

Objectives: 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.

Methods, results: 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.

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.

Conclusions: 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.

目的:急性呼吸衰竭患者越来越多地使用无创通气。然而,营养评估和医学营养治疗经常被忽略,患者可能经常进食不足。本综述评估了营养筛查和评估的工具,评估了医学营养疗法在各种无创通气技术中的应用,并提出了改善这种疗法的建议:我们对文献进行了回顾,以评估用于定义营养不良和确定需要无创通气患者能量需求的工具。最近的 16 篇论文对能量和蛋白质摄入量进行了评估。对高流量鼻导管供氧疗法和使用面罩的无创通气疗法进行了描述,并确定了每种情况下的营养疗法。能量消耗最好通过间接热量测定法获得。与接受高流量鼻导管供氧治疗的患者相比,接受无创通气治疗的患者营养不良程度更高:结论:对于接受无创通气治疗的急性呼吸衰竭患者,需要更好地确定营养不良情况、更充足的能量需求以及更好的能量和蛋白质管理。
{"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}
引用次数: 0
Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead. 神经肌肉病变的生命终结与姑息治疗简明综述:前路依然漫长。
Maria Luisa de Candia, Antonietta Coppola, Gualtiero Ermando Romano, Giovanna Elisiana Carpagnano, Paola Pierucci

Introduction: 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.

Objectives: The aim of this review is to describe the EoL phase in NMD patients with attention to QoL and psycological status.

Methods: The focus would be on one hand on the management of the psychological burden, the communication barriers, and tone of humor.

Results: 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.

Conclusions: 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.

导言:神经肌肉疾病(NMD)包括不同类型的疾病,具体取决于所涉及的运动单元的缺陷成分。这些疾病都会导致渐进性、有时是不可逆的泵呼吸衰竭,不幸的是,有些 NMD 患者可能在确诊后不久就开始呼吸衰竭。在这个庞大的患者群体中,受肌肉疾病影响的患者是一个亚群体,与其他 NMD 患者相比,他们平均发病较早。事实上,重要的是不仅要了解患者的负担,还要了解周围家庭的负担。确定这些患者的生命终结(EoL)阶段并不简单,尤其是对年轻患者而言。因此,疾病晚期阶段的定义仍不明确,具有挑战性:本综述旨在描述 NMD 患者的生命末期阶段,重点关注 QoL 和心理状态:方法:一方面重点关注心理负担的管理、沟通障碍和幽默语调:据描述,这些问题对这类患者至关重要,因为它们会增加患者和家属以及他们与外界之间的紧张关系和负担。因此也造成了他们的社会隔离,增加了焦虑,降低了他们的生活质量。另一方面,为了减轻呼吸道症状,提高患者的生活质量,最重要的是实现患者的护理目标,我们对咳嗽清除装置和所有呼吸辅助设备的使用及其撤销进行了仔细评估:尽管无法治愈,但包括多学科护理 (MDC) 在内的支持性干预措施的出现改善了 NMD 患者死亡的方方面面;然而,未来仍有很长的路要走。
{"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}
引用次数: 0
Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases. 神经肌肉疾病的无创通气(NIV)适应症和技术。
Anna Annunziata, Antonietta Coppola, Francesca Simioli, Lidia Atripaldi, Antonella Marotta, Antonio Esquinas, Giuseppe Fiorentino

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.

神经肌肉患者可能会因呼吸衰竭而需要呼吸支持。要取得治疗成功,一些技能是必不可少的。除了技术知识外,还必须掌握与神经肌肉疾病相关的知识。在神经肌肉疾病的不同病程中,替代呼吸支持和各种接口的可用性可以成为宝贵的武器。此外,医患关系和病人的心理也起着关键作用。
{"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}
引用次数: 0
期刊
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1