Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a patient with sarcoidosis and symptoms suggestive of achalasia cardia is presented. Because of increasingly severe dysphagia, cardiomyotomy was performed and biopsy specimens of the esophageal wall were obtained. Light and electron microscopy revealed lesions of the nerves in Auerbach's plexus consisting of an inflammatory process and demyelinization of the nerve fibers. Since the operation, the patient has been swallowing without difficulty. Although previous reports have described dysphagia in patients with sarcoidosis, presumably secondary to mechanical compression by adjacent lymph nodes or infiltration of the esophageal wall by sarcoid granulomata, this report documents for the first time that dysphagia can also be caused by direct involvement of the innervation of the esophagus by sarcoidosis.
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PMID:Achalasia of the cardia associated with pulmonary sarcoidosis. 685 9

A 65-year-old woman was admitted to our hospital because of pulmonary nodules, about 3 cm in diameter in the right upper lobe accompanied by pleural indentation, and 5 mm in diameter in the left middle lung field, revealed by chest X-ray. She had no clinical signs or symptoms except achalasia-like discomfort swallowing. Results of physical examinations were within normal limits. A specimen obtained from the nodule in right S2 by transbronchial biopsy showed noncaseating epithelioid granuloma containing asteroid bodies, and negative staining for acid-fast bacilli. No malignant cells were found in the specimen. Bacteriological examination of a bronchial lavage specimen was negative for pyogenic bacteria, mycobacteria and fungi. A PPD skin test was negative. BALF revealed an increase of lymphocytes and elevation of CD4/CD8 ratio. Fifteen years previously, the patient had been diagnosed as having sarcoidosis by scalene node biopsy, and had been treated with steroid therapy. Pulmonary nodules associated with pleural indentation in sarcoidosis is relatively rare, and is usually due to malignancy such as lung cancer. This possibility was ruled out clinically in the present case. Therefore, it was concluded that the pulmonary nodules in this case were due to the sarcoidosis itself.
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PMID:[A case of sarcoidosis presenting as pulmonary nodules associated with pleural indentation fifteen years after onset]. 827 63

The classic teaching in performance and interpretation of diagnostic studies is that "children are not small adults." The purpose of this article is to show a spectrum of "adult" disease entities that can occur, but are not usually considered in the pediatric population: cricopharyngeal achalasia, Schatzki's ring, achalasia, Helicobacter pylori, pancreatic carcinoma, adenocarcinoma of the colon, nasopharyngeal carcinoma, thyroid carcinoma, malignant melanoma, hydatidiform mole, renal cell carcinoma, leiomyosarcoma of the ovary and sarcoidosis. Radiologists interpreting pediatric imaging should recognize these entities and perform an appropriate diagnostic workup.
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PMID:Adult diseases in children. 1019 1

We report a 48-year-old patient who developed secondary achalasia because of esophageal sarcoidosis. Sarcoidosis can involve many gastrointestinal tract organs and can affect the esophagus in different ways. We describe how achalasia was diagnosed and treated in our patient and provide a review of the presentations of esophageal sarcoidosis.
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PMID:Esophageal sarcoidosis: an unusual diagnosis. 1174 46

Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.
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PMID:A rare case of multiple myeloma initially presenting with pseudoachalasia. 1920 46

We present a case of a patient with sarcoidosis and who subsequently developed dysphagia for solids, and some difficulty in swallowing liquids. High-resolution manometry of the oesophagus showed absent peristalsis in the oesophageal body and incomplete relaxation of the lower oesophageal sphincter. The diagnosis of sarcoidosis with oesophageal involvement was made and treatment with prednisolone 30 mg OD initiated. The patient improved symptomatically and high-resolution manometry was repeated showing complete recovery of oesophageal peristalsis and a deeper relaxation of the lower oesophageal sphincter. This is thus the first description of high-resolution manometry in sarcoidosis-induced changes of the oesophagus and of the effect treatment has on these motility changes. Oesophageal involvement of sarcoidosis is extremely rare and only a few cases have been reported. The symptoms and manometric pattern of this disorder mimics that of achalasia. However, we show that treatment with prednisolone results in a completely disappearance of the symptoms of dysphagia and subsequently lead to a large improvement of oesophageal motility.
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PMID:Case report: achalasia-like dysmotility secondary to oesophageal involvement of sarcoidosis. 2105 51

Sarcoidosis is a systemic disease that only exceptionally affects the gastrointestinal tract. We report the case of a man with systemic sarcoidosis who developed achalasia revealed by esophageal manometry, barium radiographs and echoendoscopy. No response was obtained with steroid therapy, and finally laparoscopic cardiomyotomy was performed with excellent results.
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PMID:[Systemic sarcoidosis and achalasia. Apropos of a case]. 2279 25

Pseudoachalasia is a condition in which symptoms, radiologic, endoscopic, and manometric findings mimick idiopathic achalasia. About 4% of patients with a typical constellation for idiopathic achalasia will turn out to have pseudoachalasia, posing a major diagnostic challenge. A large spectrum of underlying causes of pseudoachalasia has been described. However, in about 70% of affected patients, this condition is caused by a malignancy (mostly adenocarcinoma of the esophagogastric junction or cardia). We describe a 16-year-old high school student referred for management of achalasia who turned out to have pseudoachalasia due to adenocarcinoma of the cardia. He was cured with preoperative chemotherapy followed by radical surgery. Therapy of pseudoachalasia secondary to neoplasia is directed against the tumor or may be palliative to keep the lumen open. Other causes of pseudoachalasia include esophageal motility disturbances as a paraneoplastic phenomenon (e.g., with small cell lung cancer), post fundoplication or post bariatric surgery, in association with a thoracic aortic aneurysm, or with sarcoidosis or amyloidosis. Therapy is directed accordingly to eliminate or correct the underlying cause.
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PMID:Pseudoachalasia as First Manifestation of a Malignancy. 3060 60