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

Systemic scleroderma involves the gastro-intestinal tract in over 50 p. 100 of cases, the commonest target organs being the oesophagus, the small intestine, the colon and the stomach in that order. The G-I symptoms of this collagenosis are all related to disorder of motility secondary to disturbances of innervation and then to atrophy of the smooth muscle and fibrous infiltration. Oesophageal involvement results in gastro-oesophageal reflux and/or dysphagia due to the lack of tonicity of the lower oesophageal sphincter and a reduction of peristalsis. Disease of the small intestine may cause pseudo-intestinal obstruction or a secondary malabsorption syndrome due to abnormal intraluminal bacterial flora. Colonic involvement causes severe constipation with formation of faecoliths. Finally, scleroderma may be complicated by an acute abdominal syndrome: occlusion due to diffuse reduction in small intestinal motility, peritonitis due to perforation of the small intestine, ileo-colonic infarction, gastro-intestinal haemorrhage complicating telangiectasia. Treatment is purely symptomatic: classical remedies for gastro-oesophageal reflux and its complications, and antibiotics for malabsorption syndromes.
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PMID:[Digestive localizations of scleroderma]. 652 55

We report a case of large cystic acoustic neurinoma. A 52-year-old male was admitted to hospital with a history of progressive dysphagia, gait disturbance and diplopia for 2 months. On admission, neurological examinations revealed Bruns' type nystagmus to the left side, hypesthesia in the distribution of the second and third divisions of the left trigeminal nerve, and partial paresis of cranial nerves IX, X, and XII on the left side, and truncal ataxia. A pure-tone threshold audiogram indicated the presence of 32 dB hearing loss in the left ear. Speech discrimination was 80%. Caloric vestibular responses were absent on the left side. Skull radiographs with polytomographs of the internal auditory canal (IAC) were normal. Bony changes in the IAC were not found by high-resolution bone-window computed tomography (CT) scan. A plain CT scan revealed a large low-attenuated cystic mass in the left cerebellopontine angle (CPA), which was associated with displacement of the fourth ventricle. An enhanced CT scan demonstrated a thin rim-enhancement in the cyst wall. Magnetic resonance imaging (MRI) scans disclosed a large rim-enhanced cystic mass extending superiorly into the tentorial incisura and inferiorly into the foramen magnum. At surgery via a left suboccipital approach, a large cystic mass was found at the left CPA arising from the VIIIth nerve, and compressing the Vth, VIth, VIIth and lower cranial nerves. The cyst was filled with a xanthochromic fluid and was firmly attached to the internal auditory meatus (IAM). However no tumor extension into the IAM was confirmed. The tumor was excised completely. The postoperative course was uneventful, except for impairment of the VIIth and VIIIth nerves. At 6 months after the first operation, the facial nerve had improved up to grade III (Hause-Brackmann stage). Histological examinations revealed a typical benign acoustic neurinoma with predominant representation of Antoni B tissues. The cyst wall contained numerous abnormal sinusoid and telangiectasia-like vessels which showed occasional thromboses. The vessel walls displayed endothelial proliferations and were frequently hyalinized. Hemosiderin deposits and hemosiderin-containing phagocytes were also found near these vessels. Myxoid degeneration and necrosis were evident in vast areas. These degenerative changes appeared to be the principal causes of the large cystic formation. 16 cases including our case have been reported. The broad characteristics of the clinical symptoms and radiological findings of these tumors are discussed.
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PMID:[Large cystic neurinoma: a case report]. 921 60

We present a rare autopsy case of von Recklinghausen's disease with Moyamoya vessels and arteriovenous malformation. A 58-year-old female patient suffered from dysarthria and dysphagia. On examination, Parkinson's signs, pseudobulbar palsy, and muscular weakness of the left extremity and pyramidal tract signs were observed. An enhanced brain computed tomography revealed abnormal high-density network vessels at the thalamus and midbrain. By cerebral angiography, the following changes were observed; occlusion of the right internal carotid artery at the bifurcation, and abrupt narrowing and occlusion of the left internal carotid artery at the bifurcation and siphon. A lateral vertebral arteriography revealed telangiectasia at the basilar tip. The patient died of pulmonary thromboembolism at age 61. The vessels of the circle of Willis were hypoplastic. The optic nerves, infundibulum and mammillary body were covered with a large number of ectastic vessels. Arteriovenous malformations were observed in the bilateral occipital lobes. Histopathologically, the elastic lamina of Moyamoya vessel was conspicuously wavy and often duplicated or triplicated, and discontinued occasionally. Discontinuity of the elastic lamina of the perforating arteries and circumferential arteries supplied by the middle cerebral artery (MCA), anterior CA (ACA) and posterior CA (PCA), was also occasionally observed. It is likely that the Moyamoya vessels in this patient were compensatorily formed by congenital hypoplasia of the internal artery, MCA, ACA and PCA.
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PMID:Moyamoya disease with concurrent von Recklinghausen's disease and cerebral arteriovenous malformation. 965 50

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 combination of skin induration with clinical features such as dyspnea, facial telangiectasia, digital infarctions and/or dysphagia supports the diagnosis of systemic sclerosis. The oesophageal dysmotility is associated with symptoms which may delay the diagnosis of gastro-oesophageal cancer. Herein we report a case of long standing systemic sclerosis with heartburn and dysphagia symptoms which were monitored closely. Unfortunately, these symptoms delayed the diagnosis of gastric adenocarcinoma. This case prompted us to review the evidence of the association of cancer and systemic sclerosis and if any oncologic evaluation is required during the follow-up of patients affected with systemic sclerosis.
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PMID:[Systemic sclerosis and cancer]. 1680 8

Surgery, chemotherapy and radiotherapy are different therapeutical options for the management of the head and neck cancers. Their indication is strictly relate to some parameters (macro and microscopic characteristics of the tumor, the patient's general health and the remaining expectations of the life of the patients). Surgical treatment of the cancer, even if it represents the most radical approach and with the most therapeutical index, it always can't be practicable, since, often, it is associated to imposing aesthetical and functional alterations of the interested district. Chemotherapic agents are among the drugs with the lower therapeutical index, that are able to cause side effects, mainly due to the immunosuppression. About radiations, side effects could be indicates as immediates or acutes, and backward or chronic. Among the acute manifestations are enumerated: xerostomia, mucositis, bacterial infections, dysgeusia, dysphagia; among chronic forms: hyposalivation-xerostomia, caries, telangiectasis, infections, osteoradionecrosis, trismus, muscular fibrosis, necrosis of the soft tissues. Mucositis and xerostomia are the most common side effects, and they are a potential source of life-threatening infections. Few interventions are of proven efficacy to reducing severity and duration of mucositis, and there are no universally accepted treatment protocols, but research activity is increasing because of the upward recognition of the importance of mucositis, that need a complex and multidisciplinary clinical management.
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PMID:[Oral complications in patients with head and neck cancer after radio-chemotherapy. Mucositis and xerostomia]. 1758 May 21

Scleroderma encompasses an heterogeneous group of autoimmune disorders characterized by an hidebound thickened skin involvement. When the changes are limited to the skin, localized scleroderma is suspected. Although the latter is most often a benign disease, it may be exceptionally associated with involvement of multiple organs, mainly the neurological system. At the opposite, systemic sclerosis is a serious disorder associated with high morbidity and even mortality and defined by an extended skin sclerosis, multiple organ involvement and general symptoms. Raynaud phenomena is nearly always present at the beginning of the disease. Identifying initial manifestations of the disease (Raynaud phenomena, diffuse non pitting edema, symmetrical polyarthritis with tendon friction rubs, dysphagia associated with mucosal telangiectasia) may allow the clinician to rapidly transfer the patient to a specialized reference center in order to organize a multidisciplinary approach and to prompt optimum therapy.
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PMID:[When thinking to scleroderma?]. 1795 22


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