Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A collection of symptoms and signs indistinguishable from ocular myasthenia can be caused by an intracranial mass. We illustrate this condition with the case of an adolescent girl with neurofibromatosis type 1 and a dorsal midbrain astrocytoma. At presentation, she had fatigable ptosis, upgaze paresis, and a positive "lid twitch" sign. Radiation therapy resulted in marked reduction of her signs, confirming that the muscle fatigue was central in origin. We discuss the possible mechanisms of this central fatigability.
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PMID:Midbrain myasthenia: fatigable ptosis, 'lid twitch' sign, and ophthalmoparesis from a dorsal midbrain glioma. 156 51

We report on a female patient who had a tumour below the mandibular, on the right side of the neck, aged 70 years. When she was 74 years old easy discomfort characterized by trembling of the hands while resting and moving to the target as well as a certain stiffness of the neck, appeared. Three years later, at the age of 77, she felt fatigue, ptosis, double vision, weakness of the jaws while chewing, speech and swallowing disturbances, and weakness of the legs, that led to disability. In such state of health the patient was admitted to hospital for medical examination. Hypomimia, rigor of the neck muscles, vesting tremor, and, above all, clearly marked signs of myasthenic weakness and fatigue of the extraocular, masseteric, mimic, and bulbar muscles and those of the limbs, but in a lesser degree, were found. With Tensilon test we registered a positive response, and by an electrophysiological examination we defined a myasthenic decrement under the repetitive stimulus. Biopsy of submandibular tumour and histologic analysis indicated tuberculous lymphadenitis. Most symptoms of the disease disappeared during the treatment with anticholinesterase drugs and amantadine.
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PMID:[An unusual association of myasthenia gravis and Parkinsonism in a female patient with tuberculous lymphadenitis]. 179 25

The diagnosis of myasthenia gravis is usually confirmed by a Tensilon test, which can be complicated by cholinergic side effects that include cardiopulmonary arrest. An alternative, the Sleep test, based on the characteristic of myasthenia that symptoms and signs worsen with fatigue and improve after a period of rest, is safe, moderately sensitive, and specific. The diagnosis of myasthenia can be confirmed by observing resolution of ptosis or ophthalmoparesis immediately after a 30-minute period of sleep; the reappearance of the myasthenic signs over the next 30 seconds to 5 minutes adds further confirmation.
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PMID:The sleep test for myasthenia gravis. A safe alternative to Tensilon. 183 52

A 37-year-old man suffered from photosensitivity and urinary casts with serological findings of positive anti-DNA antibody, LE cells and false positive VD reaction in September of 1979. He developed general fatigue, dyspnea and diplopia with ptosis of bilateral eyelids in November of 1979, which were improved by the anti-cholinesterase drugs. In January of 1980, he had an attack of unconsciousness and his chest X-ray film showed several tumorous shadows in the anterior mediastinum and middle and lower lung fields. Treating him with chemotherapy of VEMP, the pulmonary shadows disappeared. However, he developed severe muscle weakness with an elevated CPK (430 mU/ml) and a myogenic EMG pattern along with an increased anti-acetylcholine receptor antibody (243 n Mol/l), dysphagia and eyelid-ptosis. He died in September of 1985 and his autopsy disclosed a malignant thymoma of mixed type in the anterior mediastinum and an atrophy and fibrosis with infiltration of inflammatory cells in the striated muscles.
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PMID:[An autopsy case of a patient with myasthenia gravis who showed various symptoms of collagen diseases and complicated with malignant thymoma]. 281 7

Mitral valve prolapse (MVP) is due to a heterogeneous group of conditions that may affect the mitral valve or the mitral valve apparatus. Although MVP may progress later in life to frank mitral insufficiency requiring mitral valve repair or may predispose to bacterial endocarditis, in most cases it is a benign, idiopathic condition without serious consequences. However, many investigators have documented that MVP is often associated with a constellation of signs and symptoms, which appear to constitute a distinct syndrome. These associated findings include autonomic dysfunction, frequent complaints of chest pain, palpitations, orthostasis, fatigue, dyspnea on exertion and anxiety. Although the risk of significant myocardial dysfunction or bacterial endocarditis appears to be related to patient sex, age and the severity of valvular prolapse and insufficiency, there appears to be little or no relations between the extent of prolapse and the degree of autonomic dysfunction or the severity of symptoms of chest pain, palpitations, dyspnea on exertion and anxiety. The development of uniform diagnostic standards for mental disorders has helped to make it possible to identify several related entities, including generalized anxiety disorder, panic disorder and agoraphobia; patients with these disorders frequently somatize their anxiety and complain of many symptoms which may be seen in patients with MVP. Although several studies have reported an increased frequency of MVP in patients with anxiety disorders, recent studies suggest that the conditions are not linked. Iatrogenic cardiac neurosis is common in both groups of patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Mitral valve prolapse: from syndrome to disease. 332 70

Tricuspid valve prolapse is an infrequent echocardiographic finding that is most commonly associated with mitral valve prolapse. When compared with patients exhibiting isolated prolapse of the mitral valve, patients with tricuspid valve prolapse are somewhat older individuals with a slightly higher frequency of neurologic symptoms, fatigue, weakness, supraventricular arrhythmias (especially atrial fibrillation) and skeletal deformities. Tricuspid valve prolapse may serve as a marker of more-diffuse connective tissue abnormalities, and its identification also should prompt an echocardiographic search for evidence of prolapse and regurgitation of the other heart valves.
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PMID:Tricuspid valve prolapse. 353 7

The response of eye movements to edrophonium is easily missed by clinical observation alone. Binocular horizontal ten degree saccades were recorded by infrared oculography, whilst the vision of one eye was occluded, before and after fatigue repeated intravenous injection of dilute edrophonium, and fatigue induced during anticholinesterase inhibition by intravenous edrophonium, in 26 patients with diplopia or ptosis of uncertain aetiology. The most reliable criterion of a positive response was an increase in the amplitude of the saccades of the fixating eye by 10% or more after each of several injections of dilute edrophonium. The response was positive in 13 patients and was difficult to observe clinically when the responses of the saccades of the eyes moving conjugately were unequal and when the patient presented with ptosis and no diplopia. Edrophonium infrared oculography proved to be a sensitive test for weakness due to the neuromuscular junction defect of myasthenia gravis affecting extraocular muscles.
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PMID:Edrophonium test in myasthenia: quantitative oculography. 358 98

The patient was a 52-year-old woman who was initially admitted to our hospital with a recent history of diplopia, ptosis and visual impairment on the right, adding to 6 years history of the right orbital pain and temporal headache. She had gradually developed pain and fatigue of the right knee since childhood and had been suffered from multiple subcutaneous tumor in the both hands and the right foot from youth onward. On neurological examination, she has had right exphthalmos and 3rd and 6th cranial nerve palsies on the right. Skull X-ray and CT scan showed parasellar calcified mass on the right. In chromosome examination, the inversion of the No. 1 chromosome was disclosed by the Q- and C-band dyeing of her leucocytes and skin culture. Cavernous hemangioma of her skin lesion and enchondroma of the skeletal lesion were diagnosed by X-ray examination and histological specimen, indicating so-called Maffucci's syndrome. One year and a half later, she was readmitted to our institution, because of progressive visual loss on the right and left hemiparesis. Malignant change of the parasellar lesion was suspected by the clinical course and neuroradiological findings and was confirmed histologically by the second peration. During postoperative course, intratumoral hemorrhage had occurred twice and the patient died, and postmortem examination confirmed her clinical affair. This is the case which was clarified malignant transformation of enchondroma in the parasellar region, and is the first case verified the chromosome abnormalities in Maffucci's syndrome.
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PMID:[Maffucci's syndrome with intracranial manifestation and chromosome abnormalities--a case report]. 370 42

Ocular myasthenia is a special form of general myasthenia gravis characterized by unilateral or bilateral ptosis and eye muscle pareses of distinct variability, depending on the time of day and the state of fatigue of the patient. Most important for diagnosis is the Tensilon test, which can, however, produce negative results. In such cases a combination of the Tensilon test with electromyography is indispensable. In ocular myasthenia there is not always an increase in the antibody titer against acetylcholine receptors in the blood. The treatment of ocular myasthenia is based on the application of cholinesterase inhibitors. The drug of choice is Mestinon; however, the reaction of the eye muscles to this drug is often unsatisfactory. Local application of cholinesterase inhibitors in the form of Eserine, Prostigmin etc. is an additional important therapy. Also in ocular myasthenia the modern treatment with Cortisone (alternate-day therapy with 100 mg Prednisone every second day) has proved very useful. Another possible method of interfering with the immunological systems of myasthenia is immunosuppression with Azathioprin or Cyclophosphamide. The pathognomonic significance of the thymus in the autoimmune process of myasthenia gravis is demonstrated by the good results obtained by thymectomy, which can also be performed successfully in ocular myasthenia, not only in young patients in whom the condition is severe, but also in older patients in whom it is chronic. Often, the therapeutic measures mentioned have to be tested one after another or in combination in order to achieve an optimal therapeutic effect.
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PMID:[Ocular myasthenia]. 399 98

Fifty-two cadaveric lumbar motion segments were subjected to fatigue loading in compression and bending to determine if the intervertebral discs could prolapse in a gradual manner. Prior to testing, the nucleus pulposus of each disc was stained with a small quantity of blue dye and radiopaque solution. This enabled the progress of any gradual prolapse to be monitored by direct observation and by discogram. Six discs developed a gradual prolapse during the testing period. The injury starts with the lamellae of the annulus being distorted to form radial fissures and then nuclear pulp is extruded from the disc and leaks into the spinal canal. Discs most commonly affected were from the lower lumbar spine of young cadavers. Tests on ten older discs with pre-existing ruptures showed that such discs are stable and do not leak nuclear pulp.
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PMID:Gradual disc prolapse. 408 67


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