1/12. Dysphagia with multiple autoimmune disease.myasthenia gravis (MG) and polymyositis (PM) are organ-specific autoimmune diseases. Occasional reports describe patients with clinical and pathologic features of both. Achalasia is idiopathic in nature, but autoimmune and inflammatory mechanisms have been proposed for this disorder as well. We describe a patient with dysphagia who was diagnosed at different points in time with all these three rare conditions. Despite at least putatively having immune mechanisms in common, an association between the three has not been previously described.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/12. Epithelio-reticular cell thymoma with lymphocytic "emperipolesis." An ultrastructural study.The ultrastructure of an epithelio-reticular cell thymoma associated with myasthenia gravis is described. The neoplastic cells of an epithelio-reticular nature were dominant in the neoplasm, being closely associated with lymphocytes and scattered non-neoplastic macrophages. The thymic epithelio-reticular cell showed abundant glycogen and some lipid droplets inside the cytoplasm, which was vacuolated and had many elongated processes attached to desmosomes and a very prominent nucleolus. The appearance was similar to that of the immature embryonic epithelial cell of the thymus seen in mammals. Very close contacts existed between the thymic lymphocytes and the epithelio-reticular cells, the appearance being suggestive of the phenomenon of "emperipolesis." cell death occurred secondarily through nuclear pyknosis and chromatolysis. Lymphocytic debris appeared inside the epithelio-reticular cells and, to some extent, in the cytoplasm of the mesenchymal marcrophages not directly involved in the phenomenon of "emperipolesis."- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/12. Respiratory failure as the initial presentation of myasthenia gravis.A number of reports describe the otolaryngologic manifestations of myasthenia gravis. Symptoms such as dysphagia, dysarthria, and dysphonia are quite common to myasthenia gravis, yet the usual onset of this disorder is insidious in nature. We report a case of an 18-year-old woman, previously undiagnosed, who presented with acute dysphagia followed by the rapid onset of respiratory failure. The diagnosis and treatment of myasthenia gravis are discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/12. memory dysfunction in myasthenia gravis: evidence for central cholinergic effects.Two studies are presented that investigate the possible central cholinergic effects of myasthenia gravis as measured by cognitive dysfunction. In the first study, performance on a battery of cognitive tasks by 12 subjects with myasthenia gravis is compared with that of ten healthy control subjects and ten medical control subjects with chronic disease of a nonneurologic nature. The tests used were the boston Naming Test, Rey Auditory verbal learning Test (AVLT), and the Logical memory and Design reproduction portions of the Wechsler memory Scale (WMS). Results indicate that the myasthenic group was significantly impaired relative to both the medical and healthy control groups for performance on the boston Naming Test, WMS Logical memory, and WMS Design reproduction. Both the myasthenic and the medical control groups were impaired relative to the healthy controls on the AVLT. In the second study, a myasthenic patient had plasmapheresis for treatment of her myasthenia on two separate occasions. Her memory was examined prior to as well as following each series of plasma exchanges with a variation of the Peterson-Peterson consonant trigram task. Results showed that this patient had significantly fewer interference effects and less rapid forgetting following plasmapheresis. The results of these two studies support the hypothesis that myasthenia gravis has central cholinergic effects manifested by cognitive dysfunction.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/12. Pulmonary function testing in children with cardiac disease.These cases illustrate the clinical importance of pulmonary function testing in children. The first case demonstrated a significant restrictive defect in a child with pulmonic stenosis and scoliosis. Although this child had no respiratory symptoms, it was important to document the degree of functional impairment to plan for her postoperative course. The second case demonstrated the way in which pulmonary function tests can lead to a specific diagnosis and provide important information about response to therapy. This patient had distressing symptoms which limited her ability to participate in sports. Her chest x-ray revealed no significant abnormality and she had no auscultatory finding. Pulmonary function tests defined both the nature and severity of her problems and provided objective information about her response to therapy. In the third case, one might have anticipated decreases in flow rates and lung volumes because of neuromuscular weakness. That was not evident on testing and the patient had an uneventful postoperative recovery. Pulmonary function testing provides invaluable information about the nature and severity of functional impairment in children with known or suspected pulmonary disease. New equipment and individuals specifically trained to work with children now permit the evaluation of even young children. Pulmonary function testing can expand our knowledge of disease processes and improve our therapeutic strategies.- - - - - - - - - - ranking = 2keywords = nature (Clic here for more details about this article) |
6/12. Familial myasthenia gravis: a study of three families.Six patients suffering from familial myasthenia gravis belonging to three different families are described. Three brothers are classified as having familial limb-girdle myasthenia and the other three patients, belonging to two other families, are classified as having familial congenital myasthenia. The clinical features, HLA antigen typing, autoantibody screening and anti-acetylcholine receptor antibodies were analysed. The variability of this condition from family to family is exemplified in this series and confirms the heterogeneous nature of familial myasthenia gravis.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/12. Abnormal neuromuscular transmission in an infantile myasthenic syndrome.A term infant required intubation for respiratory depression. Examination revealed hypotonia and areflexia with intact extraocular movements. Electrodiagnostic studies demonstrated defective neuromuscular transmission characterized by borderline low motor evoked amplitudes, profound decremental responses at all stimulation rates, and moderate facilitation (50 to 740%) 15 seconds after 5 seconds of 50 Hz stimulation. Repetitive muscle action potential responses were not recorded following stimulation of nerves by single shocks. Sensory evoked responses and needle electromyographic findings were normal, as were acetylcholine receptor antibody levels. Results of muscle histochemical analyses, including acetylcholinesterase stains, were normal. End-plate histometric analyses demonstrated only a slight reduction in mean synaptic vesicle diameter compared with that in an adult control subject. in vitro muscle contractile properties, stimulating the muscle directly, were normal. Anticholinesterase medications were ineffective. guanidine produced clinical deterioration. The amplitude of motor evoked responses progressively declined, whereas the percentage of decrement and amount of post-tetanic facilitation increased. Although the nature of the transmission defect was not identified, the data are consistent with abnormal acetylcholine resynthesis, mobilization, or storage without abnormality of release or receptors.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/12. Facilitating myasthenic syndrome and quadriceps myopathy.A patient presented with myasthenic syndrome apparently not related to any neoplasia. A peculiar myopathy characterized by absolute predominance (99.50%) and atrophy of type 2A muscle fibers was found in both quadriceps muscles. It is difficult to determine the relation between the myasthenic syndrome and the localized quadriceps myopathy for which a congenital nature is suggested.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/12. Ptosis with contralateral lid retraction due to excessive innervation of the levator palpebrae superiorus.Two patients are presented with unilateral ptosis and contralateral lid retraction. The lid retraction disappears upon manual elevation of the ptotic lid. Each patient with this phenomenon would be expected to have a frank tropia, or monofixation syndrome and prefer to fix with the ptotic eye. Extraordinary innervation is transmitted to the levator of the ptotic eye and, since we believe the levators follow Hering's law, this excessive innervation is also transmitted to the contralateral levator. This results in lid retraction in the second eye. If the ptotic lid is manually elevated, levator innervation decreases and the contralateral lid retraction disappears. This previously unreported maneuver of manually elevating the ptotic lid is superior to patching the ptotic eye for a period of days, the previous method for demonstrating this phenomenon. These considerations are important in the evaluation of lid retraction, and in determining the nature and extent of corrective surgery.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/12. Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases.The nature of the defect in congenital myasthenia was investigated in biopsy specimens of intercostal muscle from 5 male patients whose symptoms presented between birth and 2 years of age. Miniature end-plate potentials were reduced in amplitude in all 5 patients. The number of acetylcholine receptors as determined by alpha-bungarotoxin binding was normal in case 1 and reduced in cases, 2, 4, and 5. The shape of the end-plates as shown by autoradiography and cholinesterase staining was normal in case 1 and elongated in cases 2, 4, and 5. In cases 3, alpha-bungarotoxin binding was slowly reversible, and there were some muscle fibers with multiple end-plate regions. The acetylcholine content of the muscle was normal in all 5 cases. None of the patients had serum antibody to human acetylcholine receptor as measured by immunoprecipitation or inhibition of alpha-bungarotoxin binding. We conclude that congenital myasthenia is a heterogeneous condition of nonimmune etiology in which both presynaptic and postsynaptic defects can be found.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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