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)

Pseudoachalasia is a rare clinical entity which has clinical, radiographic and manometric features often indistinguishable from achalasia. A small primary adenocarcinoma arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes. Rarely, processes other than esophagogastric cancers may lead to the development of pseudoachalasia. We present three cases of pseudoachalasia in which the primary cause of the disease was not an esophagogastric cancer. The causes were a pancreatic carcinoma, a breast cancer and an histiocytosis X. Aspects of these three patients' diagnostic and therapeutic course are discussed in detail.
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PMID:Pseudoachalasia: not only esophago-gastric cancer. 1743 2

A minor proportion of patients with achalasia eventually have a neoplasm and, as a consequence, pseudoachalasia is diagnosed. A neoplasm may either involve gastrointestinal junction or present a paraneoplastic effect. Over the global diagnoses of achalasia issued in 5 years of experience in our motility unit, we have found 13% (3/23 cases) of pseudoachalasia (2-4% in previous series, probably due to the fact that the population assisted was mainly composed of elderly patients). The origin of the neoplasm was bladder, prostate and metastases from epidermoid carcinoma of vocal chord. Treatment of primary neoplasm, besides classical approach (with dilatation of botulinum injection) may help in the resolution of this clinical disorder.
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PMID:Pseudoachalasia of the cardia secondary to nongastrointestinal neoplasia. 1770 Dec 48

Achalasia, insufficient relaxation of the lower esophageal sphincter (LES) causes the retention and stasis of food and secretions, chronic hyperplastic esophagitis and eventual malignant transformation. p53 alternation has been suggested to play an important role in the malignant transformation. A 53-year-old man was endoscopically followed up for esophageal achalasia for seven years, and endoscopy revealed an ulcerative region in the upper thoracic esophagus, and histopathologically the biopsy specimens showed moderately differentiated squamous cell carcinoma. In resected specimens, p53 staining was strong and diffuse in the tumor and MIB-1 immunoreactivity was strong and patchy in the tumor and the basal layer of squamous mucosa of the esophagus. No staining for either immunostains was noted in normal esophageal mucosa. It is necessary for patients with esophageal achalasia to be followed-up with endoscopy, and that p53 and MIB-1 immunostaining of biopsy specimens should be performed to detect pre-cancerous lesions.
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PMID:p53 and MIB-1 expression of esophageal carcinoma concominant with achalasia. 1770 70

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

The objectives of this study were to define the utility of esophagogastroduodenoscopy in the diagnosis and management of patients presenting with dysphagia and to determine the relative incidence of the various causes of dysphagia in Sudan. This is a prospective, cross-sectional, descriptive, hospital-based study carried out at the endoscopy unit of Soba University Hospital, Khartoum, Sudan. All patients complaining of dysphagia underwent upper gastrointestinal endoscopy with therapeutic intervention when necessary. A total of 114 patients were enrolled in the study, with a mean age of 47 years SD +/- 19 and a male to female ratio of 1 : 1.04. A benign condition was diagnosed in 56% of the cases; this included esophageal strictures in 21% of the cases and achalasia in 14%. Malignant causes were mainly due to esophageal cancer (40.4%) and cancer of the stomach cardia (3.5%). Therapeutic intervention was attempted in 83% of the cases. Risk factors predictive of a malignant etiology were age over 40 years (P < 0.000), dysphagia lasting between 1 month and 1 year (P < 0.000), and weight loss (P < 0.000). A barium study was performed in 35 cases (31%) prior to endoscopic examination and proved to be inaccurate in three cases (8.6%). Upper gastrointestinal endoscopy in our African setting is an accurate and useful investigation in the diagnosis and management of patients presenting with dysphagia. Patients over the age of 40 years presenting with dysphagia and weight loss are more likely to have a neoplastic disease and should be referred for urgent endoscopy.
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PMID:Use of endoscopy in diagnosis and management of patients with dysphagia in an African setting. 1990 93

Patients with longstanding achalasia have an increased risk of developing esophageal cancer. Surveillance is hampered by chronic stasis. We investigated whether aberrant expressions of tumor suppressor gene p53 and proliferation marker ki67 are early predictors for progression to malignancy. In 399 achalasia patients, 4% died of esophageal cancer despite surveillance. We performed a cohort study, using surveillance biopsies from 18 patients (11 carcinoma, one high-grade dysplasia [HGD], and six low-grade dysplasia [LGD]) and 10 controls (achalasia patients without cancer or dysplasia development). One hundred sixty-four biopsies were re-evaluated and studied for p53 and ki67 expression using immunohistochemistry. Eighty-two percent of patients with cancer/HGD showed p53 overexpression in surveillance biopsies at a mean of 6 (1-11) years prior to cancer development. In 67% of patients with LGD and only in 10% of the controls p53 overexpression was present. The proportion of samples with p53 overexpression increased with increasing grades of dysplasia. We found no difference for ki67 overexpression. p53 overexpression may identify achalasia patients at increased risk of developing esophageal carcinoma. Further study is needed to determine if patients with p53 overexpression would benefit from intensive surveillance to detect esophageal neoplasia at a potential curable stage.
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PMID:Expression of p53 as predictor for the development of esophageal cancer in achalasia patients. 2011 24

A 62-year-old male patient was admitted to our hospital due to severe chest pain, odynophagia, and hematemesis. Chest computed tomography showed an esophageal submucosal tumor. Esophagogastroduodenoscopy (EGD) revealed a longitudinal purplish bulging tumor of the esophagus. Endoscopic ultrasound (EUS) showed a mixed echoic tumor with partial liquefaction from the submucosal layer. The patient was diagnosed with esophageal intramural hematoma as well as achalasia by upper gastrointestinal endoscopy, esophagography and esophageal manometry. The patient was managed conservatively with intravenous nutrition, and oral feeding was discontinued. Follow-up EGD and EUS showed complete recovery of the esophageal wall, and finally, the patient underwent endoscopic dilatation for achalasia. The patient was symptom free at the time when we wrote this manuscript.
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PMID:Achalasia combined with esophageal intramural hematoma: case report and literature review. 2107 6

Achalasia secondary to neoplasia is an uncommon entity, but recognition is paramount given the concern of missing a cancer diagnosis. Most case series of secondary achalasia occurred in prior decades raising the question of whether the underlying neoplastic causes have changed. All cases of achalasia secondary to neoplasia were reviewed at the Mayo Clinic from 2000 to the present. Cases were assessed for underlying cause of achalasia, whether achalasia was the primary presentation and demographic and clinical factors. Seventeen patients with achalasia secondary to neoplasia were identified. This was 1.5% of all patients with achalasia seen. The most common causes were adenocarcinoma of the esophagus, followed by breast and non-small cell lung cancer. No cases of gastric cancer were identified. Most patients had weight loss and rapid onset of symptoms but could not clearly be distinguished from primary achalasia. Nine patients presented with achalasia, whereas eight patients had known neoplasia. Five of these patients had a positive paraneoplastic panel suggestive of a paraneoplastic syndrome. Prognosis was generally poor except for patients with esophageal leiomyomatosis. This case series demonstrates a changing differential diagnosis for achalasia secondary to neoplasia with a higher number of patients presenting with a known primary and with a paraneoplastic syndrome. Awareness of secondary achalasia and its differentiation from primary causes is still essential.
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PMID:Achalasia secondary to neoplasia: a disease with a changing differential diagnosis. 2196 74

Pseudoachalasia secondary to primary squamous cell carcinoma (SCC) of the liver is extremely rare and has not been reported until now. Here, we report a unique case of primary SCC of the liver initially presenting with progressive dysphagia along with short periods of significant weight loss. A 58-year-old man initially presented with progressive dysphagia along with significant weight loss over brief periods of time. The radiographic and manometric findings were consistent with achalasia. Subsequent esophagogastroduodenoscopy revealed a moderately dilated esophagus without evidence of neoplasm or organic obstruction. However, firm resistance was encountered while traversing the esophagogastric junction (EGJ), although no mucosal lesion was identified. Due to the clinical suspicion of the presence of a malignant tumor, endoscopic ultrasonography (EUS) and computed tomography scans of the chest and abdomen were obtained. A huge hepatic mass with irregular margins extending to the EGJ was found. EUS-guided fine-needle aspiration was performed, and the mass was diagnosed as a primary SCC of the liver by immunohistochemical staining.
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PMID:Primary squamous cell carcinoma of the liver initially presenting with pseudoachalasia. 2257 Jul 60

A 59 years old woman was admitted in our unit accusing longtime dysphagia and regurgitation. On admission, the patient was wearing a 3 month old definitive feeding gastrostomy tube. The contrast swallow, endoscopy and esophageal manometry established the diagnostic--achalasia. We removed the gastrostomy tube and we performed an open Heller myotomy. The postoperative period was uneventful and the patient was discharged one week later with affirmatively unimpaired deglutition. One month later, the patient was admitted via emergency with a giant fibrous tumor arising from her mouth after an episode of strong coughing and vomiting. The repeated endoscopy showed a giant esophageal polyp that was missed by the previous investigations, originating from pharingoesophageal junction. The esophageal polyp was resected by cervical approach with good postoperative outcome. The polyp's particular extreme dimensions (27 cm) prevented the acute asphyxia by blockage at the laryngeal level, possibly provoked by smaller tumors. As postoperative one month barium swallow showed a normal esophageal aspect, a final question remains--was achalasia real or an erroneous diagnosis was established the second time too?
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PMID:Giant fibrovascular esophageal polyp misdiagnosed as achalasia. 2302 20


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