The Experts below are selected from a list of 63 Experts worldwide ranked by ideXlab platform

Il Nam Sunwoo - One of the best experts on this subject based on the ideXlab platform.

Ha Young Shin - One of the best experts on this subject based on the ideXlab platform.

Janice M Massey - One of the best experts on this subject based on the ideXlab platform.

  • Myasthenia gravis
    Orphanet Journal of Rare Diseases, 2007
    Co-Authors: Vern C Juel, Janice M Massey
    Abstract:

    Myasthenia gravis (MG) is a rare, autoimmune Neuromuscular Junction Disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness within three years of initial symptom onset. MG results from antibody-mediated, T cell-dependent immunologic attack on the endplate region of the postsynaptic membrane. In patients with fatigable muscle weakness, the diagnosis of MG is supported by: 1. pharmacologic testing with edrophonium chloride that elicits unequivocal improvement in strength; 2. electrophysiologic testing with repetitive nerve stimulation (RNS) studies and/or single-fiber electromyography (SFEMG) that demonstrates a primary postsynaptic Neuromuscular Junctional Disorder; and 3. serologic demonstration of acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK) antibodies. Differential diagnosis includes congenital myasthenic syndromes, Lambert Eaton syndrome, botulism, organophosphate intoxication, mitochondrial Disorders involving progressive external ophthalmoplegia, acute inflammatory demyelinating polyradiculoneuropathy (AIDP), motor neuron disease, and brainstem ischemia. Treatment must be individualized, and may include symptomatic treatment with cholinesterase inhibitors and immune modulation with corticosteroids, azathioprine, cyclosporine, and mycophenolate mofetil. Rapid, temporary improvement may be achieved for myasthenic crises and exacerbations with plasma exchange (PEX) or intravenous immunoglobulin (IVIg). Owing to improved diagnostic testing, immunotherapy, and intensive care, the contemporary prognosis is favorable with less than five percent mortality and nearly normal life expectancy.

  • Orphanet Journal of Rare Diseases BioMed Central Review
    2007
    Co-Authors: Myasthenia Gravis, Vern C Juel, Janice M Massey
    Abstract:

    which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Myasthenia gravis (MG) is a rare, autoimmune Neuromuscular Junction Disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness within three years of initial symptom onset. MG results from antibody-mediated, T cell-dependent immunologic attack on the endplate region of the postsynaptic membrane. In patients with fatigable muscle weakness, the diagnosis of MG is supported by: 1. pharmacologic testing with edrophonium chloride that elicits unequivocal improvement in strength; 2. electrophysiologic testing with repetitive nerve stimulation (RNS) studies and/or single-fiber electromyography (SFEMG) that demonstrates a primary postsynaptic Neuromuscular Junctional Disorder; and 3. serologic demonstration of acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK) antibodies. Differential diagnosis includes congenital myastheni

Susan T Iannaccone - One of the best experts on this subject based on the ideXlab platform.

  • response to treatment in pediatric ocular myasthenia gravis
    Muscle & Nerve, 2020
    Co-Authors: Diana Castro, Joan S Reisch, Susan T Iannaccone
    Abstract:

    Introduction Juvenile myasthenia gravis (JMG), a pediatric autoimmune Neuromuscular Junction Disorder, includes generalized (GMG), and ocular (OMG) variants. We sought to determine whether differences existed between OMG and GMG children regarding demographics or treatment response. Methods We performed retrospective analysis of 60 children with JMG seen between 1990 and 2018. Osserman scores were used to define OMG and GMG. The myasthenia scale of Millichap and Dodge was used to assess treatment responses. Results There were no differences between GMG and OMG regarding time interval from disease onset to prednisone initiation (P = .42), or treatment response according to Millichap and Dodge (P = .12). Compared with GMG, OMG children showed younger age of disease onset and better outcomes after treatment. No OMG patients progressed to generalized disease during the follow-up period. Discussion Compared with GMG, OMG patients had earlier disease onset and improved outcomes after treatment.

Conigliaro Rita - One of the best experts on this subject based on the ideXlab platform.

  • Unusual Paraneoplastic Syndrome Accompanies Neuroendocrine Tumours of the Pancreas
    Hindawi Publishing Corporation, 1
    Co-Authors: Bertani Helga, Messerotti Alessandro, Di Benedetto Fabrizio, Manta Raffaele, Greco Milena, Casoni Federica, Losi Luisa, Conigliaro Rita
    Abstract:

    Neuroendocrine tumours comprise a small percentage of pancreatic neoplasia (10%) (1). Diagnosis of neuroendocrine tumours is difficult, especially if the tumours are small and nonfunctional. CT scans, MRI, and nuclear scans are sufficiently sensitive assessment tools for tumours with diameters of at least 2 cm; otherwise, the sensitivity and specificity of these techniques is less than 50% (2). Myasthenia gravis (MG) is a heterogeneous Neuromuscular Junction Disorder that is primarily caused when antibodies form against the acetylcholine receptors (Ab-AchR). MG can develop in conJunction with neoplasia, making MG a paraneoplastic disease. In those cases, MG is most commonly associated with thymomas and less frequently associated with extrathymic malignancies. The mechanism underlying this paraneoplastic syndrome has been hypothesized to involve an autoimmune response against the tumour cells (3). No published reports have linked malignant pancreatic diseases with MG. Here, we report the case of a young woman, negative for Ab-AchR, with a neuroendocrine tumour in the pancreatic head, who experienced a complete resolution of her MG-like syndrome after surgical enucleation of the tumour