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

A case of malignant esophageal schwannoma is reported. A 54-year-old man consulted for a 1-year history of dysphagia. Investigations revealed a tumor of the distal esophagus, with involvement of the cardia, and were suspicious for metastatic mediastinal nodes. Ivor-Lewis esophagectomy with gastric-tube reconstruction was performed, with favorable outcome. Histological examination revealed esophageal sarcoma in a Barrett's esophagus. Periesophageal nodes had metastatic involvement. Immunohistochemical study was positive for S100 and vimentin and was negative for CD117, compatible with a diagnosis of esophageal schwannoma. We discuss this rare disease and its characteristics. This is the second reported case of malignant schwannoma with lymph node metastasis.
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PMID:[Malignant nerve sheath tumor of the esophagus (malignant esophageal schwannoma)]. 1538 51

Eosinophilic esophagitis is a rare entity, characterized by eosinophilic infiltration of the oesophagal mucosae, with no gastroesophageal reflux. Food allergies are often involved. We report 3 paediatric cases of eosinophilic esophagitis, revealed by dysphagia, with or without stricture. Eosinophilic esophagitis is a rare disease, but its frequency is probably underestimated. Symptoms are sometimes unusual. Oesogastroscopy with biopsy is essential for the diagnosis. Food allergies can be involved and must be systematically investigated.
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PMID:[Eosinophilic esophagitis: 3 case reports]. 1573 99

Many causes of esophagitis exist in immunocompromised patients. Uncommon pathogens must be considered to facilitate timely and appropriate therapy. A limited number of cases of esophageal actinomycosis have been reported. This report describes an unusual case of esophageal actinomycosis in a patient with persistent dysphagia. The broad differential may have delayed definitive diagnosis in the case study patient. Biopsy and culture are essential for accurate diagnosis. Although actinomycosis is a rare disease, it should be included in the differential diagnosis of patients presenting with oral or esophageal complaints. It may also be considered as an opportunistic infection in immunocompromised patients. The treatment of choice is parenteral penicillin G, 18 to 24 million units for 2 to 6 weeks followed by oral therapy for 6-12 months.
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PMID:Actinomycosis esophagitis in a patient with persistent dysphagia. 1600 75

Inflammatory pseudotumor (IPT) is a rare disease that usually occurs in the lung. Patients with IPT are usually asymptomatic, with a solitary pulmonary nodule or mass detected on routine chest roentgenogram. IPT can behave as a malignant tumor both clinically and radiologically. Cough, fever, dyspnea, and hemoptysis are the usual presenting symptoms. This report describes the case of a 37-year-old man with a 4-month course of dysphagia secondary to lower esophageal invasion by the posterior mediastinal extension of a lung IPT.
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PMID:Unusual cause of dysphagia: inflammatory pseudotumor of the lung. 1600 76

Primary eosinophilic esophagitis (EE) is a rare disease with symptoms similar to those of gastroesophageal reflux disease (GERD). However, EE is caused by severe eosinophilic invasion of the esophageal epithelium, typically followed by dysphagia. A man 28 years of age presented persistent symptoms of GERD despite traditional antireflux therapy. Histologic evaluation showed eosinophilia (85 eosinophils/high-power field (x 400)). Treatment by bouginage resulted in mucosal lacerations and transitory clinical improvement. Local steroid therapy for four weeks eliminated the symptoms.
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PMID:[Primary eosinophilic esophagitis]. 1643 Aug 18

Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and dysphagia, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the 'poly adenylate binding nuclear I protein' (PABN1) gene. This expansion is stable in subsequent generations and is translated into a polyalanine tract. The aberrant protein is found within the intranuclear inclusions and interferes with normal mRNA function.
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PMID:[From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy]. 1675 25

Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare disease with an annual incidence of approximately 1/100,000 and a prevalence rate of 1/10,000. The disease can occur at any age, with a similar rate in men and women, but is usually diagnosed between 25 and 60 years. It is characterized predominantly by dysphagia to solids and liquids, bland regurgitation, and chest pain. Weight loss (usually between 5 to 10 kg) is present in most but not in all patients. Heartburn occurs in 27%-42% of achalasia patients. Etiology is unknown. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. Association of achalasia with viral infections and auto-antibodies against myenteric plexus has been reported, but the causal relationship remains unclear. The diagnosis is based on history of the disease, radiography (barium esophagogram), and esophageal motility testing (esophageal manometry). Endoscopic examination is important to rule out malignancy as the cause of achalasia. Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aimed at reducing the LES pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids. Although it cannot be permanently cured, excellent palliation is available in over 90% of patients.
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PMID:Idiopathic (primary) achalasia. 1789 99

A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch. Fewer than 50 cases have been reported in the literature. A number of operative strategies are described. Right thoracotomy provides good exposure and avoids the morbidity associated with bilateral thoracotomy or sternotomy and thoracotomy. In our patient with symptoms of dysphagia, syncope, and left subclavian steal syndrome, a left thoracotomy was used. The repair was accomplished by division of a left ligamentum arteriosum, obliteration of the Kommerell's aneurysm, and an aorto-subclavian bypass. Postoperative complications included left vocal cord palsy and Horner's syndrome. Hoarseness and left ptosis recovered spontaneously 3 months after surgery, and the patient remained symptom-free at the 1-year follow-up. We believe a left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method without the increased morbidity found in other procedures.
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PMID:A right-sided aortic arch with Kommerell's diverticulum of the aberrant left subclavian artery presenting with syncope. 1946 53

Amyloidosis is a rare disease caused by extracellular deposits of insoluble fibrillar proteins in various organs and tissues. There are different forms of amyloidosis distinguished by the type of protein fibrils, by the sites of deposition and by associated conditions. Gastrointestinal involvement is common both in primary and secondary amyloidosis, while isolated gastrointestinal amyloidosis is rare. We describe a case of AL amyloidosis with a gastrointestinal involvement and restrictive cardiomiopathy. A 64 year old woman came to our attention with a history of chronic diarrhoea and weight loss, associated with dysphagia, dry mouth, xerophtalmia, chronic gastritis and depression. Clinical diagnosis has been difficult because of aspecificity of symptoms that mimed other more common diseases, like gastro-paresis, epigastric discomfort, gastric or duodenal ulcers, perforation, malabsorption, intestinal pseudo-obstruction. There is an important risk of misunderstanding and diagnostic delay. Indeed in this patient a diagnosis of irritable colon syndrome was erroneously established two years before admission in our hospital. Therefore gastrointestinal amyloidosis should be considered among differential diagnoses of chronic diarrhoea and weight loss when other more common diseases have been excluded.
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PMID:Gastrointestinal amyloidosis: a case of chronic diarrhoea. 1953 May 11

Thyroid lymphoma is a rare disease which occurs mainly in elderly females. Most patients with thyroid lymphoma have Chronic Lymphocytic Thyroiditis (CLT), suggesting a role of chronic antigen stimulation in the development of the disease. We present two cases of thyroid Diffuse Large B-cell Lymphoma (DLBCL) diagnosed after surgery (subtotal thyroidectomy) by means of combined histology and immunohistochemistry (positive staining for CD-20) in two elderly female patients presenting at our institution for compressive symptoms (dysphonia in patient 1, dysphagia in patient 2) due to a gross neck mass. Fine-needle aspiration was compatible with lymphocytic thyroiditis in the first patient and was indeterminate in the second patient. The first patient had a long-lasting history of hypothyroidism due to CLT and was on L-thyroxine replacement therapy, whereas the second patient had normal thyroid function and negative thyroid autoantibodies. After surgery both patients underwent chemotherapy (cyclophosphamide, doxorubicin, vincristine and prednisone (CHOP) plus rituximab). At one-year follow-up both patients were disease-free. Thyroid lymphoma is an uncommon tumor which requires prompt diagnosis and combined management for a high rate of cure to be achieved.
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PMID:Thyroid lymphoma: a rare tumor requiring combined management. 1967 21


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