Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations [0.03%]
Steinert病患者的隐性吞咽困难及反复呼吸道加重事件
Anna Annunziata,Tullio Valente,Rosa Cauteruccio et al.
Anna Annunziata et al.
We describe two cases of patients with Steinert's dystrophy or myotonic dystrophy type 1 (DM1) who presented with frequent respiratory exacerbations and pneumonia. They did not report any risk factors for asthma, allergy, bronchopathy or dy...
Beneficial effects of one-month sacubitril/valsartan treatment in a patient affected by end-stage dystrophinopathic cardiomyopathy [0.03%]
沙库必曲/缬沙坦一个月的治疗对终末期抗肌萎缩蛋白病性心肌病患者的良好效果
Andrea Antonio Papa,Emanuele Gallinoro,Alberto Palladino et al.
Andrea Antonio Papa et al.
Dystrophinopathic cardiomyopathy (DCM) is an almost constant manifestation in Becker muscular dystrophy (BMD) patients significantly contributing to morbidity and mortality. The nearly complete replacement of the myocardium by fibrous and fat...
Endocrine myopathies: clinical and histopathological features of the major forms [0.03%]
内分泌性肌病：主要疾病的临床和病理特征
Carmelo Rodolico,Carmen Bonanno,Alessia Pugliese et al.
Carmelo Rodolico et al.
Endocrinopathies, such as thyroid and parathyroid diseases, disorders of the adrenal axis, and acromegaly are included among the many causes of myopathy. Muscle disturbances caused by endocrine disorders are mainly due to alterations in the...
Respiratory function and therapeutic expectations in DMD: families experience and perspective [0.03%]
DMD呼吸功能及治疗预期的家庭体验与视角
Claudia Brogna,Simona Lucibello,Giorgia Coratti et al.
Claudia Brogna et al.
Objective: The aim of this study was to use a structured questionnaire in a large cohort of Duchenne Muscular Dystrophy (DMD) patients to assess caregivers and patients views on respiratory function and to establish if th...
Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center [0.03%]
单中心1型肌营养不良(DM1)长达18年的纵向预后影响因素分析
Marco Mazzoli,Alessandra Ariatti,Gian Carlo Garuti et al.
Marco Mazzoli et al.
The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy...
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis [0.03%]
由于LAMA2基因突变导致的肢体带状肌肉营养不良：新的突变扩大了仍然具有挑战性的诊断的临床表现范围
Francesca Magri,Roberta Brusa,Luca Bello et al.
Francesca Magri et al.
Mutations in LAMA2 gene, encoding merosin, are generally responsible of a severe congenital-onset muscular dystrophy (CMD type 1A) characterized by severe weakness, merosin absence at muscle analysis and white matter alterations at brain Ma...
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase [0.03%]
估计COVID-19大流行对意大利神经肌肉中心提供的服务的影响：意大利肌病协会关于急性期的调查
Eleonora Mauri,Elena Abati,Olimpia Musumeci et al.
Eleonora Mauri et al.
Introduction: Since February 2020, the outbreak of COVID-19 in Italy has forced the health care system to undergo profound rearrangements in its services and facilities, especially in the worst-hit areas in Northern Italy...
Anna Annunziata,Antonietta Coppola,Antonella Marotta et al.
Anna Annunziata et al.
We described a case of a patient 20 years old, affected by Duchenne dystrophy with obstructive sleep apnoea syndrome and severe nocturnal desaturation. He was not compliant to non-invasive ventilation (NIV) for claustrophobia and panic atta...
Efficacy and safety of ropivacaine HCl in peribulbar anaesthesia for cataract surgery in patients with myotonic dystrophy type 1 [0.03%]
氯化罗哌卡因在外眼肌营养不良I型患者白内障手术球后麻醉中的疗效和安全性研究
Alberto Palladino,Maddalena De Bernardo,Marianna Scutifero et al.
Alberto Palladino et al.
Myotonic dystrophy (DM1) is the most common muscle disease in adults, affecting approximately 1:8000 individuals, characterized by myotonia and muscular wasting and a multisystemic involvement that includes heart, brain, respiratory and end...
Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study [0.03%]
努西能治疗一年内脊髓性肌萎缩症患者的最大咬力-初步研究
Teresa Kruse,Raoul Heller,Brunhilde Wirth et al.
Teresa Kruse et al.
Objectives: Spinal muscular atrophy is a monogenic disease characterized by progressive spinal and bulbar muscle weakness and atrophy. It is caused by the degeneration of alpha-motoneurons. The recent approval of the anti...