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)

Osteogenesis imperfecta (OI) is a rare, inherited skeletal disorder characterized by abnormalities of type 1 collagen. Malignancy is rarely reported in patients with OI and it was suggested that this disease can protect against cancer. Here, we report a 41-year-old woman with symptoms of achalasia where repeated treatment of pneumatic dilation and stent replacement was unsuccessful; therefore, surgery was performed. Pathology showed gastric adenocarcinoma unexpectedly. Chemotherapy was given after assessing dihydropyrimidine dehydrogenase (DPD) enzyme activity, which can be deficient in OI patients. This is the first report of gastric cancer mimicking achalasia in a patient with OI.
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PMID:Osteogenesis imperfecta, pseudoachalasia, and gastric cancer. 2587 39

The esophagus is one of the areas of the gastrointestinal tract, for which therapeutic concepts have changed the most over the last two decades. The most decisive advance is the development of endoscopic resection techniques for early esophageal carcinomas. These methods provide excellent short- and long-term results combined with very low morbidity and negligible mortality rates in comparison with surgical esophagectomy, especially in case of mucosal Barrett's adenocarcinoma. In addition, the endoscopic myotomy techniques in Zenker's diverticulum and spastic achalasia are new, attractive endoscopic treatment modalities.
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PMID:[Endoscopic therapy of esophageal diseases]. 2730 61

Esophageal cancer has a poor prognosis and high mortality rate, with an estimated 16,910 new cases and 15,910 deaths projected in 2016 in the United States. Squamous cell carcinoma and adenocarcinoma account for more than 95% of esophageal cancers. Squamous cell carcinoma is more common in nonindustrialized countries, and important risk factors include smoking, alcohol use, and achalasia. Adenocarcinoma is the predominant esophageal cancer in developed nations, and important risk factors include chronic gastroesophageal reflux disease, obesity, and smoking. Dysphagia alone or with unintentional weight loss is the most common presenting symptom, although esophageal cancer is often asymptomatic in early stages. Physicians should have a low threshold for evaluation with endoscopy if any symptoms are present. If cancer is confirmed, integrated positron emission tomography and computed tomography should be used for initial staging. If no distant metastases are found, endoscopic ultrasonography should be performed to determine tumor depth and evaluate for nodal involvement. Localized tumors can be treated with endoscopic mucosal resection, whereas regional tumors are treated with esophagectomy, neoadjuvant chemotherapy, chemoradiotherapy, or a combination of modalities. Nonresectable tumors or tumors with distant metastases are treated with palliative interventions. Specific prevention strategies have not been proven, and there are no recommendations for esophageal cancer screening.
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PMID:Esophageal Cancer. 2807 4

Achalasia and Treatment of esophageal Adenocarcinoma are commonly associated to surgical resection. Newer technologies in interventional endoscopy gave way to a substantial paradigm shift in the management of these conditions. In the case of achalasia, endoscopic myotomy is rapidly displacing Heller's myotomy as the gold standard in many centers. Early stage neoplasia in Barrett's esophagus (BE) comprising high-grade dysplasia (HGD), intramucosal and, in some cases, submucosal carcinoma is now being treated without the need of esophagectomy. This review presents a summary of the most relevant endoscopic techniques for both achalasia and esophageal cancer. Endoscopic advances in diagnostic and therapeutic arenas allow for minimally invasive therapies and organ preservation in most settings of achalasia and early stage neoplasia of the esophagus provided that the clinical setting and physician's expertise are prepared for this approach.
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PMID:The impact of flexible endoscopy in esophageal surgery. 2881 63

Achalasia of the cardia is associated with an increased risk of esophageal carcinoma. The real burden of achalasia at the malignancy genesis is still a controversial issue. Therefore, there are no generally accepted recommendations on follow-up evaluation for achalasia patients. This study aims to estimate the risk of esophageal adenocarcinoma and squamous cell carcinoma in achalasia patients. We searched for association between carcinoma and esophageal achalasia in databases up to January 2017 to perform a systematic review and meta-analysis. A total of 1,046 studies were identified from search strategy, of which 40 were selected for meta-analysis. A cumulative number of 11,978 esophageal achalasia patients were evaluated. The incidence of squamous cell carcinoma was 312.4 (StDev 429.16) cases per 100,000 patient-years at risk. The incidence of adenocarcinoma was 21.23 (StDev 31.6) cases per 100,000 patient-years at risk. The prevalence for esophageal carcinoma was 28 carcinoma cases in 1,000 esophageal achalasia patients (CI 95% 2, 39). The prevalence for squamous cell carcinoma was 26 cases in 1,000 achalasia patients (CI 95% 18, 39) and for adenocarcinoma was 4 cases in 1,000 achalasia patients (CI 95% 3, 6).The absolute risk increase for squamous cell carcinoma was 308.1 and for adenocarcinoma was 18.03 cases per 100,000 patients per year. To the best of our knowledge, this is the first meta-analysis estimating the burden of achalasia as an esophageal cancer risk factor. The high increased risk rate for cancer in achalasia patients points to a strict endoscopic surveillance for these patients. Also, the increased risk for developing adenocarcinoma in achalasia patients suggests fundoplication after myotomy, to avoid esophageal reflux and Barret esophagus, a known risk factor for adenocarcinoma.
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PMID:Esophageal achalasia: a risk factor for carcinoma. A systematic review and meta-analysis. 2885 94

A 61-year-old man was admitted to our hospital for an abnormal chest shadow. Computed tomography (CT) showed a pulmonary nodular shadow in the right middle lobe. He was diagnosed with stage cT2aN0M0 (IB) pulmonary adenocarcinoma and was treated with surgery of right middle lobectomy and mediastinal lymph node dissection. On 2nd day after surgery, he got aspiration pneumonia. CT showed consolidation of left lower lobe, stenosis of lower esophagus with dilation of the oral side and stagnation of residual foods. Esophagogram showed stenosis of the lower esophagus and stagnation of the contrast medium. He was diagnosed with esophageal achalasia. Balloon dilation was performed and the obstruction was improved. He has been well without recurrence of achalasia.
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PMID:[Esophageal Achalasia after Surgery for Lung Cancer]. 3018 41

Esophageal cancer affects more than 4,50,000 persons worldwide, and its incidence has increased in recent years. It is the eighth most common cancer across the globe. The main histologic types are esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EA), and their associated risk factors are well known. Achalasia, an idiopathic esophageal disorder that conditions aperistalsis and the absence of lower esophageal sphincter relaxation, stands out among them. The prevalence of ESCC in subjects with esophageal achalasia is 26 in every 1,000 cases, whereas the prevalence of EA is 4 in every 1,000. Patients with achalasia have a 50 times higher risk of presenting with ESCC than the general population, and the disease manifests 20-25 years after achalasia symptom onset. Multiple mechanisms are related to the development of ESCC in achalasia, and they include bacterial overgrowth, food stasis, genetic alterations, and chronic inflammation. Regarding the risk of EA in achalasia patients, most cases are associated with Barrett's esophagus, due to uncontrolled chronic acid reflux. Given that achalasia is a well-established factor for ESCC/EA, clinicians must be aware of said associations to enable the development of programs for the prevention and opportune detection of these cancers in patients with achalasia.
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PMID:Achalasia and esophageal cancer: risks and links. 3023 26

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

Idiopathic achalasia and Barrett's esophagus (BE) are preneoplastic conditions of the esophagus. BE increases the risk of esophageal adenocarcinoma (EAC), while achalasia is associated with both EAC and esophageal squamous cell carcinoma (ESCC). However, while the molecular mechanisms underlying the transformation of esophageal epithelial cells in BE are relatively well characterized, less is known regarding these processes in achalasia. Nevertheless, both conditions are associated with chronic inflammation and BE can occur in achalasia patients, and it is likely that similar processes underlie cancer risk in both diseases. The present review will discuss possible lessons that we can learn from the molecular analysis of BE for the study of achalasia-associated cancer and contrast findings in BE with those in achalasia. First, we will describe cellular fate during development of BE, EAC, and ESCC, and consider the inflammatory status of the epithelial barrier in BE and achalasia in terms of its contribution to carcinogenesis. Next, we will summarize current data on genetic alterations and molecular pathways involved in these processes. Lastly, the plausible role of the microbiota in achalasia-associated carcinogenesis and its contribution to abnormal lower esophageal sphincter (LES) functioning, the maintenance of chronic inflammatory status and influence on the esophageal mucosa through carcinogenic by-products, will be discussed.
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PMID:Achalasia and associated esophageal cancer risk: What lessons can we learn from the molecular analysis of Barrett's-associated adenocarcinoma? 3105 38

Pseudoachalasia, or secondary achalasia, is a clinical condition that must be distinguished from primary achalasia. Both diagnoses may present similarly, but the aetiology and management for each are drastically different. Most significantly, pseudoachalasia carries a high association with malignancy, most often with primary adenocarcinoma of the oesophagus or cardia. Our case involves a patient with signs and symptoms consistent with pseudoachalasia due to metastatic bladder cancer.
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PMID:Pseudoachalasia secondary to metastatic bladder cancer. 3135 58


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