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Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-{alpha}-Actinin Immunostaining
Discussion SLONM is a treatable myopathy with ASCT or traditional immunotherapy, especially when combined with steroids and immunosuppressants. Anti–α-actinin immunostaining is the most reliable pathologic marker to identify rod-bearing fibers, and it should be performed routinely in adult patients with undiagnosed nonnecrotic myopathies.
Source: Neurology Neuroimmunology and Neuroinflammation - May 17, 2022 Category: Neurology Authors: Zhao, B., Dai, T., Zhao, D., Ma, X., Zhao, C., Li, L., Sun, Y., Zhang, Y., Yan, Y., Lu, J.-Q., Liu, F., Yan, C. Tags: MRI, All Immunology, Autoimmune diseases, All Clinical Neurology, Muscle disease Research Article Source Type: research

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion.
Source: Neuromuscular Disorders - September 21, 2021 Category: Neurology Authors: Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme Ferraz Messina de P ádua Andrade, Maria de Fátima Derlene, Zilda Maria Alves Meira, Beatriz Vilela Morais Azevedo, Wilson Campos Jr, Sabrina Stephanie Lana Diniz, Marina Belisario Carvalhais, Julia Tags: Case report Source Type: research

Autoimmune & inflammatory nmd
Sporadic late-onset nemaline myopathy (SLONM) is characterized by the presence of nemaline bodies in skeletal muscle biopsies. SLONM is a non-hereditary myopathy usually affecting adults in 5th-7th decade and the most common clinical presentation is proximal muscle weakness. SLONM can be classified into 2 major subtypes considering its association with monoclonal gammopathy (1) SLONM without MGUS (SLONM-noMGUS) and (2) with MGUS (SLONM-MGUS) association. SLONM-MGUS has been shown to be associated with poorer prognosis and required aggressive treatment including high dose melphalan and autologous stem cell transplantation.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Tanboon, A. Uruha, Y. Arahata, C. Dittmayer, L. Schweizer, H. Goebel, I. Nishino, W. Stenzel Source Type: research

Mild form of Danon disease: two case reports
Danon disease (OMIM: 300257) is an X-linked dominant lysosomal storage disease characterized by the triad of cardiomyopathy, myopathy, and mental retardation [1]. The causative gene is lysosome-associated membrane protein-2 (LAMP-2), which plays an important role in autophagosome-lysosome fusion in autophagy [2]. Typically, cardiomyopathy is remarkably severe in male patients, requiring heart transplantation; otherwise, it is lethal by their mid-twenties [1,3,4]. We herein report two unrelated male patients showing mild manifestations of Danon disease.
Source: Neuromuscular Disorders - August 2, 2021 Category: Neurology Authors: Toshio Yasui, Utako Nagaoka, Yasushi Oya, Akinori Uruha, Jun Karashima, Asuka Funai, Kazuhito Miyamoto, Shiro Matsubara, Keizo Sugaya, Kazushi Takahashi, Michio Inoue, Mariko Okubo, Kazuma Sugie, Ichizo Nishino Tags: Case report Source Type: research

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types
This report emphasizes that genetic disease should still be considered in the context of presumably acquired disease, and also demonstrates the extent of transdifferentiation of donor cells into other tissues.
Source: Frontiers in Neurology - January 11, 2021 Category: Neurology Source Type: research

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Authors: Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR Abstract Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. The diagnosis is, therefore, challenging in most cases.Area covered: Herein, the authors discuss different aspects of leukodystrophies. The authors used...
Source: Expert Review of Neurotherapeutics - December 13, 2019 Category: Neurology Tags: Expert Rev Neurother Source Type: research

Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results.
Authors: Palladino A, Papa AA, Morra S, Russo V, Ergoli M, Rago A, Orsini C, Nigro G, Politano L Abstract Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Dystrophinopathic cardiomyopathy is the result of the dystrophin protein deficiency at the myocardium level, parallel to that occurring at the skeletal muscle level....
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3
Conclusions: This is the first comprehensive report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene.
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Original Article Source Type: research

Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report
This is the first report about a patient with concomitant polymyositis (PM), myasthenia gravis (MG), and aplastic anemia (AA). A 54-year-old male developed myalgia and muscle weakness, which gradually progressed over 2 months. He was persistently affected by MG and AA. Brachium magnetic resonance imaging showed increased signal intensity in the left triceps and deltoid muscles on short tau inversion recovery images. A muscle biopsy examination revealed perifascicular atrophication and inflammatory myopathy. We diagnosed the patient with PM combined with MG and AA. He was successfully treated with an autologous bone marrow ...
Source: Case Reports in Neurology - April 17, 2018 Category: Neurology Source Type: research

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort
AbstractSporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weakness in late adulthood, and the presence of nemaline bodies on muscle biopsy. In recent years, several therapeutic interventions, including immunomodulating agents and autologous stem cell transplantation, have shown variable degrees of efficacy in different patients, but no consensus has been reached to allow an effective tailoring of treatments in this severe disease. We performed a retrospective evaluation of clinical, pathological, laboratory, muscle MRI, and follow-up data of SLONM patients diagn...
Source: Journal of Neurology - January 22, 2018 Category: Neurology Source Type: research

Cyclophosphamide, thalidomide, and dexamethasone as alternative treatment regimen for sporadic late onset nemaline myopathy associated with monoclonal gammopathy of undetermined significance
We report a case of 33-year-old man with a 5-month history of proximal muscle weakness who later develop neck weakness and require tracheostomy.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: J. Tanboon, T. Kumutpongpanich, W. Owattanapanich, T. Sangruchi, K. Boonyapisit, I. Nishino Source Type: research

Increased cardiac muscle autophagy in a child with restrictive cardiomyopathy, proximal myopathy and neuropathy due to a mutation in the BAG3 (Pro209Leu) gene
We report an 8-year-old boy with nocturnal hypoventilation since age 5 years, who underwent heart transplantation (HTX) due to severe RCM at age 7 years.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: A. Sch änzer, S. Rupp, G. Mall, H. Akintürk, D. Schramz, L. Gulatz, J. Thul, N. Mazhari, A. Hahn Source Type: research

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance
Purpose of review: Sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS) is a rare subacute progressive muscle disease. The prognosis is poor due to severe respiratory insufficiency. Recently, however, autologous stem-cell transplantation following high-dose melphalan has been shown to be effective unless there is delay before the treatment. Therefore, early recognition of the disease is important. This review gives an overview of recent advances in SLONM–MGUS, which could help to understand clinical and pathological features and treatment. Recent findings: Efficacy...
Source: Current Opinion in Neurology - September 1, 2017 Category: Neurology Tags: NERVE, NEURO-MUSCULAR JUNCTION AND MOTOR NEURON DISEASES: Edited by Jean-Marc Leger Source Type: research

Clinical Reasoning: A 33-year-old man with cardiomyopathy and myopathy
An 18-year-old Hmong man sought medical care because of worsening performance on military training exercises. He had a previous syncopal episode with prompt recovery. His medical and developmental history were otherwise unremarkable. A chest radiograph revealed cardiomegaly and, after further cardiac tests, he was diagnosed with postinfectious or idiopathic cardiomyopathy. His cardiac function deteriorated and heart transplantation was pursued. During preoperative evaluation, his serum creatine kinase (CK) was noted to be persistently elevated in the 4,000s, prompting further investigation, but since he was not weak or oth...
Source: Neurology - August 21, 2016 Category: Neurology Authors: Foster, L. A., Courville, E. L., Manousakis, G. Tags: Lipidoses, Muscle disease, Cardiac, All Genetics RESIDENT AND FELLOW SECTION Source Type: research

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