Acta Myologica最新文献_第4页

PROCEEDINGS OF THE XXI CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY: Digital EditionDecember 01-04, 2021. 意大利骨学协会第21届大会论文集:数字版，2021年12月01-04日。

Acta Myologica Pub Date : 2021-12-31 eCollection Date: 2021-12-01 DOI: 10.36185/2532-1900-056

引用次数: 0

Reproducibility of manual segmentation in muscle imaging. 肌肉成像中人工分割的再现性。

Acta Myologica Pub Date : 2021-09-30 eCollection Date: 2021-09-01 DOI: 10.36185/2532-1900-052

Shaun Ivan Muzic, Matteo Paoletti, Francesca Solazzo, Eugenio Belatti, Raimondo Vitale, Niels Bergsland, Stefano Bastianello, Anna Pichiecchio

{"title":"Reproducibility of manual segmentation in muscle imaging.","authors":"Shaun Ivan Muzic, Matteo Paoletti, Francesca Solazzo, Eugenio Belatti, Raimondo Vitale, Niels Bergsland, Stefano Bastianello, Anna Pichiecchio","doi":"10.36185/2532-1900-052","DOIUrl":"https://doi.org/10.36185/2532-1900-052","url":null,"abstract":"Purpose: To assess the reproducibility of a manual muscle MRI segmentation method that follows a specific set of recommendations developed in our center.Materials and methods: Nine healthy volunteers underwent a muscle MRI examination that included a TSE T2 sequence of the thighs. Muscle segmentation was performed by three operators: an expert operator (OP1) with 3 years of experience and two radiology residents (OP2 and 3) who were both given basic segmentation instructions, whereas only OP2 underwent additional supervised training from OP1. Intra- and inter-operator Dice similarity coefficient (DSC) was calculated.Results: OP1 showed the highest average intra-operator DSC values (0.885), whereas OP2 had higher average DSC (0.856) compared to OP3 (0.818). The highest inter-operator agreement was observed between Operators 1 and 2 (0.814) and the lowest between OP2 and OP3 (0.702). Confidence interval (CI) analysis showed that the most experienced operator also had the least variability in drawing the ROIs, whereas OP2 showed both higher intra-operator reproducibility compared to OP3 and higher inter-operator agreement with OP1. The muscles that showed the least reproducibility were the semimembranosus and the short head of the biceps femoris.Discussion: Following specific recommendations such as these ones derived from our single-center experience leads to an overall high reproducibility of manual muscle segmentation and is helpful in improving both intra-operator and inter-operator reproducibility in less experienced operators.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"40 3","pages":"116-123"},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c0/9b/am-2021-03-116.PMC8489167.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39504434","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: 4

Unmet needs on the management of COVID-19 vaccination in patients with neuromuscular disorders. 神经肌肉疾病患者COVID-19疫苗接种管理方面未满足的需求

Acta Myologica Pub Date : 2021-09-30 eCollection Date: 2021-09-01 DOI: 10.36185/2532-1900-051

Vincenzo Russo, Luisa Politano

引用次数: 1

Impact of the COVID-19 pandemic on rehabilitation setting. Part 1: professionals' views on the changes in routine care provided by a rehabilitation centre for patients with muscle diseases. COVID-19大流行对康复环境的影响。第一部分:专业人士对康复中心为肌肉疾病病人提供的日常护理的改变的看法。

Acta Myologica Pub Date : 2021-09-30 eCollection Date: 2021-09-01 DOI: 10.36185/2532-1900-054

Giulia Citarelli, Ciro Garofalo, Maria Grazia Esposito, Vito Torre, Lorenza Magliano, Luisa Politano

{"title":"Impact of the COVID-19 pandemic on rehabilitation setting. Part 1: professionals' views on the changes in routine care provided by a rehabilitation centre for patients with muscle diseases.","authors":"Giulia Citarelli, Ciro Garofalo, Maria Grazia Esposito, Vito Torre, Lorenza Magliano, Luisa Politano","doi":"10.36185/2532-1900-054","DOIUrl":"https://doi.org/10.36185/2532-1900-054","url":null,"abstract":"The outbreak of COVID-19 has forced the health care system to undergo profound rearrangements in services and facilities, especially during the periods of lockdown. In this context, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of severely disabled patients, as those affected by Muscular Dystrophies (MDs). We present the preliminary results of a survey aiming to explore the staff views on the changes in the care provided by the Gaetano Torre Rehabilitation Centre, and, the impact of these changes on professionals, patients and their families. The survey was carried out using an open-ended questionnaire including six-items, on the practical and psychological aspects emerged during the pandemic in relation to the healthcare services provided by the Centre and to the patients/caregivers conditions. The participants, most of them physiotherapists, highlighted 169 aspects emerging in the pandemic, 48.5% referring to the resources used to cope with critical issues and 51.5% concerning the difficulties encountered. Emotional aspects prevailed on practical aspects both in resources (52.4 vs 47.6%) and in difficulties (57.5 vs 42.5%) categories. In particular, with regard to patients' resources, psychological benefits, despite the burden, were greater than practical ones (87 vs 13%), in the form of improved intra-family relationships, feeling more cared for, and satisfaction for the received care. As for the patients' relatives, the staff indicated more resources than difficulties (72.8 vs 17.2%). Among the former, 75% concerned the emotional sphere, such as the perception of having a point of reference even in such a difficult time.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"40 3","pages":"132-134"},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/b0/am-2021-03-132.PMC8489169.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39506822","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: 2

Diagnosis and treatment of pneumonia, a common cause of respiratory failure in patients with neuromuscular disorders. 诊断和治疗肺炎，一种常见的导致呼吸衰竭的神经肌肉疾病患者。

Acta Myologica Pub Date : 2021-09-30 eCollection Date: 2021-09-01 DOI: 10.36185/2532-1900-053

Novella Carannante, Anna Annunziata, Antonietta Coppola, Francesca Simioli, Antonella Marotta, Mariano Bernardo, Eugenio Piscitelli, Pasquale Imitazione, Giuseppe Fiorentino

{"title":"Diagnosis and treatment of pneumonia, a common cause of respiratory failure in patients with neuromuscular disorders.","authors":"Novella Carannante, Anna Annunziata, Antonietta Coppola, Francesca Simioli, Antonella Marotta, Mariano Bernardo, Eugenio Piscitelli, Pasquale Imitazione, Giuseppe Fiorentino","doi":"10.36185/2532-1900-053","DOIUrl":"https://doi.org/10.36185/2532-1900-053","url":null,"abstract":"Patients with neuromuscular diseases, during their illness are more susceptible to respiratory infections due to predisposing factors. Ineffective cough and the presence of atelectasis and hypoventilation, dysphagia and drooling can represent risk factors for the development of respiratory infection and fatal respiratory failure. Infections of respiratory tract with acute respiratory failure are the most common reason for hospitalizations, and pneumonia is among the leading causes of morbidity and mortality worldwide. The setting in which pneumonia is acquired heavily influences diagnostic and therapeutic choices. We will focus on aetiopathogenesis, diagnosis and treatment of pneumonia in these subjects, particularly considering the disease severity, rates of antibiotic resistance and the possible complications. In this case consultations with specialized physicians are strongly recommended.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"40 3","pages":"124-131"},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/77/77/am-2021-03-124.PMC8489170.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39506820","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: 3

Non-invasive mechanical ventilation as an alternative respiratory support during gastrostomy tube placement, in a patient with Duchenne muscular dystrophy, 24/24 hours ventilation dependent. 杜氏肌营养不良患者24/24小时依赖通气，无创机械通气作为胃造口管置入期间的替代呼吸支持。

Acta Myologica Pub Date : 2021-09-30 eCollection Date: 2021-09-01 DOI: 10.36185/2532-1900-055

Anna Annunziata, Rosa Cauteruccio, Emilio di Costanzo, Giuseppe Fiorentino

引用次数: 0

Anti-HMGCR antibodies and asymptomatic hyperCKemia. A case report. 抗hmgcr抗体与无症状高血症。一份病例报告。

Acta Myologica Pub Date : 2021-06-30 eCollection Date: 2021-06-01 DOI: 10.36185/2532-1900-050

Francesca Torri, Greta Ali, Lucia Chico, Gabriele Siciliano, Giulia Ricci

引用次数: 3

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype. 一种新的DMD内含子改变:一种中间肌营养不良表型的潜在致病变异。

Acta Myologica Pub Date : 2021-06-30 eCollection Date: 2021-06-01 DOI: 10.36185/2532-1900-048

Ricardo Santin, Igor Araujo Vieira, Jean Costa Nunes, Maria Luiza Benevides, Fernanda Quadros, Ana Carolina Brusius-Facchin, Gabriel Macedo, Ana Paula Santin Bertoni

{"title":"A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.","authors":"Ricardo Santin, Igor Araujo Vieira, Jean Costa Nunes, Maria Luiza Benevides, Fernanda Quadros, Ana Carolina Brusius-Facchin, Gabriel Macedo, Ana Paula Santin Bertoni","doi":"10.36185/2532-1900-048","DOIUrl":"https://doi.org/10.36185/2532-1900-048","url":null,"abstract":"Pathogenic germline variants in DMD gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker muscular dystrophy (BMD, mild form) and intermediate muscular dystrophy (IMD). Muscle biopsy, immunohistochemistry, molecular (multiplex ligation-dependent probe amplification (MLPA)/next-generation sequencing (NGS) and Sanger methods) and in silico analyses were performed in order to identify alterations in DMD gene and protein in a patient with a clinical manifestation and with high creatine kinase levels. Herein, we described a previously unreported intronic variant in DMD and reduced dystrophin staining in the muscle biopsy. This novel DMD variant allele, c.9649+4A>T that was located in a splice donor site within intron 66. Sanger sequencing analysis from maternal DNA showed the presence of both variant c.9649+4A>T and wild-type (WT) DMD alleles. Different computational tools suggested that this nucleotide change might affect splicing through a WT donor site disruption, occurring in an evolutionarily conserved region. Indeed, we observed that this novel variant, could explain the reduced dystrophin protein levels and discontinuous sarcolemmal staining in muscle biopsy, which suggests that c.9649+4A>T allele may be re-classified as pathogenic in the future. Our data show that the c.9649+4A>T intronic sequence variant in the DMD gene may be associated with an IMD phenotype and our findings reinforce the importance of a more precise diagnosis combining muscle biopsy, molecular techniques and comprehensive in silico approaches in the clinical cases with negative results for conventional genetic analysis.","PeriodicalId":35953,"journal":{"name":"Acta Myologica","volume":"40 2","pages":"93-100"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290513/pdf/am-2021-02-93.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39280958","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

Combined high flow nasal cannula and negative pressure ventilation as a novel respiratory approach in a patient with acute respiratory failure and limb-girdle muscular dystrophy. 高流量鼻插管联合负压通气治疗急性呼吸衰竭及肢带肌萎缩症的新方法。

Acta Myologica Pub Date : 2021-06-30 eCollection Date: 2021-06-01 DOI: 10.36185/2532-1900-049

Pasquale Imitazione, Anna Annunziata, Maurizia Lanza, Giuseppe Fiorentino

引用次数: 1

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome. TAZ基因剪接突变导致外显子跳变和Barth综合征。

Acta Myologica Pub Date : 2021-06-30 eCollection Date: 2021-06-01 DOI: 10.36185/2532-1900-047

Larysa Sivitskaya, Nina Danilenko, Iryna Motuk, Nikolai Zhelev

引用次数: 0