Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The CREST syndrome refers to a disorder comprising the manifestations of calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. Thirteen CREST patients (two with CRST) were compared with 26 patients with systemic sclerosis but without the full manifestations of the CRST syndrome. No significant difference was found between the groups in the age of onset of Raynaud's phenomenon, degree of multiphasic digital color changes, ulcerations of fingers, sclerodactyly, or in the frequency of abnormal esophageal peristalsis or dysphagia. Laboratory results were similar, including the frequency of an elevated ESR. However, the CREST patients had a significantly lower frequency of arthralgia (54%) and arthritis (15%) than did those with scleroderma (88% and 65%, respectively). All but one of the CREST patients were women, which was a greater proportion than found among scleroderma cases (69%), and all were white (P less than .05). Most patients with the CREST syndrome had rather severe acrosclerosis. At last evaluation, four patients were chronically ill and three had died. The CREST and CRST syndromes are closely related disorders that seem to be part of the spectrum of systemic sclerosis.
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PMID:The 'CREST' syndrome. Comparison with systemic sclerosis (scleroderma). 50 20

Gastroesophageal reflux is well documented in scleroderma, but the complications of Barrett's metaplasia and adenocarcinoma are not well described. The records of 75 patients with scleroderma seen over a four-year period at the Hospital of the University of Pennsylvania were retrospectively reviewed to determine the prevalence of Barrett's metaplasia and adenocarcinoma of the esophagus and to identify clinical, manometric, laboratory, or radiographic criteria that might predict the presence of these lesions. Twenty-four of these patients underwent endoscopy. In this group, the prevalence of Barrett's metaplasia was 37 percent (nine patients) and adenocarcinoma was also present in two of these patients. The patients with and without Barrett's metaplasia were similar in age (range, 22 to 64 compared with 28 to 79, respectively), sex (six of nine compared with 12 of 15 female, respectively), frequency of esophageal motility disorders, presence of proximal skin involvement, digital ulceration, and pulmonary involvement as measured by diffusion capacity. Barrett's metaplasia was diagnosed on the basis of double-contrast esophagographic results in only one of eight patients with Barrett's metaplasia so-studied. Patients with Barrett's metaplasia tended to have longer duration of heartburn (90 +/- 40 months compared with 11 +/- 35 months) and dysphagia (39 +/- 22 months compared with 7 +/- 3 months). Patients with Barrett's metaplasia also tended to have greater impairment of lower esophageal sphincter pressure either at end-expiration (4.0 +/- 2.1 compared with 6.1 +/- 1.8 mm Hg) or mid-respiration (13.0 +/- 3.0 compared with 16.9 +/- 2.5 mm Hg). Using chi-square analysis, however, none of these differences reached statistical significance. Discrimination did occur on the basis of the presence of the CREST (calcinosis, Raynaud's phenomenon, esophageal manifestations of scleroderma, sclerodactyly, and telangiectasis) variant (55 percent compared with 7 percent, p less than 0.01), a duration of dysphagia of more than five months (p less than 0.03), and mid-respiratory lower esophageal sphincter pressure of less than 10 mm Hg (p less than 0.05). It is suggested that: Barrett's metaplasia of the esophagus occurs in one third of patients with scleroderma; clinical, manometric, laboratory, and radiographic features are poor predictors of the presence of Barrett's metaplasia; patients with CREST syndrome, prolonged dysphagia, or a very low lower esophageal sphincter pressure may have an increased risk for the development of metaplasia; patients with scleroderma and Barrett's metaplasia have an increased risk of complications such as stricture or adenocarcinoma.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Barrett's metaplasia and adenocarcinoma of the esophagus in scleroderma. 379 92

Transcutaneous nerve stimulation (TNS) has previously been shown to improve microcirculation in ischemic limbs of patients with Raynaud's phenomenon and diabetic neuropathy and to accelerate healing of chronic skin ulcerations. The present report deals with a patient with systemic sclerosis in which Raynaud's phenomenon, ulcerations and pains in the feet, calcinosis and dysphagia have been successfully treated by TNS. The mechanisms implicated are discussed.
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PMID:Systemic sclerosis: successful treatment of ulcerations, pain, Raynaud's phenomenon, calcinosis, and dysphagia by transcutaneous nerve stimulation. A case report. 614 9

Questionnaires were sent to 1290 hospitals in Japan asking for data on patients with juvenile dermatomyositis (JDM) diagnosed between June 1984 and May 1994. Of the 204 patients identified by these questionnaires, 102 met the criteria for JDM. JDM is categorized into three subtypes: Banker-type JDM, Brunsting-type and fulminant-type; patients with the latter exhibit markedly elevated serum levels of creatinine phosphokinase (> 10,000 U/mL) and appear to be at risk of renal failure. Cutaneous manifestations were present in 98% of patients and preceded the appearance of other symptoms. This tendency is one of the reasons for the difficulty in some cases in diagnosing the onset of JDM. Better criteria for early treatment of JDM are needed. The results of the present study suggest that itching and calcinosis are factors that indicate a poor prognosis in patients with JDM. Muscle enzyme levels do not always reflect disease activity, suggesting that methods other than measurement of muscle enzymes, such as measurement of the levels of neoprerin and von Willebrand factor antigen, as well as magnetic resonance imaging should be used to be evaluate disease severity. Patients with Brunsting-type JDM who exhibit dysphagia and antinuclear antibody positivity and patients with Banker-type JDM should be treated aggressively. Pulse therapy should be selected as the initial therapy in patients with fulminant-type JDM.
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PMID:Characteristics of juvenile dermatomyositis in Japan. 914 Dec 68

A pilot study was conducted to assess the efficacy of early treatment of severe juvenile dermatomyositis (JDMS) patients with intravenous methylprednisolone (IVMP) and methotrexate (MTX). Twelve children diagnosed with severe JDMS were treated with IVMP and MTX. Six patients were treated early (within 6 weeks of the diagnosis) while in the other six patients, MTX was started 5-72 months after the diagnosis was made. The clinical responses of the patients to treatment, including alterations in muscle strength, muscle enzyme levels and corticosteroid dosage as well as the development of side-effects, were recorded. The indications for starting the treatment were defined and documented. The primary measures of response were resolution of the clinical indications for treatment, decreased activity of the disease manifestations and tapering of the corticosteroids to the minimal dose or discontinuation without clinical or biochemical flare. The main indications for starting IVMP and MTX were dysphagia and severe cutaneous vasculitis. All the patients received MTX orally for at least 8 months, as well as IVMP (30 mg/kg/dose), but none of the patients was on additional second-line treatments. The six patients who were treated early with MTX showed a significant clinical improvement. In five out of the six, the corticosteroid dosage was eventually reduced to <5 mg/day. None of them developed calcinosis. In contrast, two of the six patients who were treated late with MTX developed calcinosis. This study suggests that MTX and IVMP are a useful combination in the early treatment of severe JDMS. Given the fact that our sample was small, further studies in a controlled trial are necessary to confirm these findings.
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PMID:Efficacy of early treatment of severe juvenile dermatomyositis with intravenous methylprednisolone and methotrexate. 1079 26

Our aim was to review the use of esophageal investigations in patients with suspected connective tissue disease (CTD). Forty-seven patients (39 women and 8 men) with suspected CTD were referred for esophageal manometry at the gastrointestinal physiology unit in the Royal Victoria Hospital, Belfast, U.K., over a 10-year period (1987-1997). The mean age was 51.7 years (range = 21-79 years). Chart review was conducted 1 to 10 years after manometry to confirm the final diagnoses: scleroderma was found in 11; CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia), 8; mixed connective tissue disease, 14; Raynaud's alone, 5; and other CTDs, 9. All 47 successfully underwent esophageal manometry. In addition to manometry, 24 underwent gastroscopy; 27, barium meal; and 3, esophageal pH studies. Clinically significant esophageal abnormalities were noted in 8 (33%) on gastroscopy, in 15 (56%) on barium meal, and in 31 (66%) on manometry. Gastroscopy had a significantly lower positivity rate than the others (p < 0.05). Only three patients had pH testing, yet all three pH tests were abnormal. During manometry, abnormal findings were significantly more common in scleroderma-CREST when compared with other diagnoses (89% vs. 50%; p < 0.02). Thirty-three patients reported dysphagia. Abnormal manometry was more likely in these cases (82% vs. 33%; p < 0.02). A high percentage of patients with CTD have significant esophageal motility disorders. Investigations were more likely to be positive with scleroderma-CREST than other CTDs, even if dysphagia was present. Barium meal and manometry are more useful than OGD. pH studies were under-used. There is need for a standardized approach to esophageal investigations in patients with CTDs.
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PMID:Esophageal investigations in connective tissue disease: which tests are most appropriate? 1115 66

Dermatomyositis and polymyositis are the two major idiopathic inflammatory myopathies. The Bohan and Peter's criteria are still useful despite the probably different pathogenesis of the two myopathies. Cutaneous manifestations of dermatomyositis include heliotrope rash and Gottron's papules. The heliotrope rash, with or without edema, in a distribution involving periorbital skin is very suggestive of the diagnosis. Papules may be found overlying the "kneedle" of the hand or the elbows, knees, feet. Periungueal erythema with telangiectasis were characteristic but not pathognomonic. Scalp involvement is common. Skin lesions of dermatomyositis may precede the development of the myopathy and may persist after the control of the myositis. Some patients have an amyopathic dermatomyositis with normal muscle-enzyme, magnetic resonance scan and muscle biopsy. Muscle disease affects the proximal muscles, is generally symmetrical and symptoms are fatigue, weakness and sometimes myalgia. Proximal dysphagia reflects an involvement of striated muscle of the pharynx or proximal esophagus. Camptocormia reflects a severe involvement of paravertebral muscle. Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), arthralgias or arthritis, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with dermatomyositis. Malignant disease is associated with idiopathic inflammatory myopathies with a frequency of approximatively 10 to 15% in dermatomyositis and 5 to 10% in polymyositis and is strongly correlated with age, more than 50% of the patient over 65 years old were found to have a cancer. In the absence of malignant disease, the mainstay therapy for dermatomyositis and polymyositis is systemic corticosteroids (mostly 1mg/kg). In the lake of response or high dose dependance, intravenous immunoglobulins or immunosuppressive drugs like methotrexate or azathioprine may be discuss. Cyclophosphamide show some effectiveness in interstitial pneumonitis. Cyclosporin might be effective in children, less in adults. The efficacy of tacrolimus, mycophenolate mofetil, leflunomide and anti-TNF therapy need some prospective studies to determine if there are of value in idiopathic inflammatory myositis.
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PMID:[Dermatomyositis and polymyositis: clinical aspects and treatment]. 1196 87

The aim of this study was to evaluate outcome in children with juvenile dermatomyositis (JDMS) at a tertiary care center in North India and have a long term follow-up. Medical records of children with JDMS managed at a tertiary care hospital were reviewed during a 13-year period to determine (1) interval between onset of symptoms and diagnosis, (2) treatment modalities used and (3) long term functional outcome. Thirty three patients diagnosed with JDMS met the inclusion criteria. Mean age at diagnosis was 8.7 +/- 3.3 years. Mean duration of disease prior to treatment was 1.18 years (range 1 month-5 years). The total follow-up period was 136.7 patient-years. Immunosuppressive therapy was given in 31/33 and a distinct monocyclic course was seen in 72.7% cases. Lipodystrophy was seen in 10/33 (30.3%), calcinosis in 7/33 (27.3%), cutaneous ulcers in 6/33 (18.2%), dysphagia in 5/33 (15.2%), and contractures in 4/33 (12.1%) cases. A steady and sustained response was seen in patients who had received "adequate" doses of steroids at the time of initiation of treatment. Methotrexate, hydroxychloroquine, azathioprine and intravenous immunoglobulin were used in patients with poor response to corticotherapy. There were two deaths in our series. Stepwise, aggressive treatment directed at achieving rapid and complete control of muscle inflammation is highly successful in minimizing the long-range sequelae of JDMS. Our patients seem to have a different clinical profile on follow-up as compared to series published from the West.
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PMID:Twelve years experience of juvenile dermatomyositis in North India. 1616 42

A 46-year-old woman presented with chronic fluctuated liver function impairment, Raynaud's phenomenon, digital gangrene, pulmonary hypertension, and intense pruritus within a period of 2 years. Laboratory investigations revealed antinuclear antibodies, anticentromere antibodies (ACA), hypergammaglobulinemia, lymphocytic infiltration of the liver parenchyma, and mild cholangitis. The associated symptoms included thyroiditis, conjunctivitis sicca, xerostomia, and polyarthralgia. There was no conspicuous sclerodactyly, calcinosis, or dysphagia. The symptoms were relieved with intravenous, as well as oral, methylprednisolone. This constellation of presentations, including chronic autoimmune hepatitis with mild cholangitis and pulmonary hypertension, suggested that the presence of serum ACA might indicate relentless visceral organ damage.
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PMID:Hepatitis, cholangitis, pulmonary hypertension, digital gangrene, and conjunctivitis sicca in a woman with anticentromere antibodies. 1686 13

The case is reported of a patient with progressive proximal and distal weakness, dysphagia, respiratory weakness, calcifications, ptosis and ophthalmoparesis with inflammation, rimmed vacuoles and positive amyloid and ubiquitin on muscle biopsy. The histopathological features fit best with inclusion body myositis, but ophthalmoparesis and ptosis have not previously been described. The clinical phenotype fits best with hereditary inclusion body myopathy or distal-oculopharyngeal muscular dystrophy, but the degree of inflammation seen is unusual. None of these are associated with calcinosis.
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PMID:Oculopharyngeal myopathy with inflammation and calcinosis: an unusual phenotype. 1827 Feb 38


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