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)

This study investigates whether patients with achalasia exhibit autoimmune reactions with subsequent complement activation within oesophageal smooth muscle, vessels and neurones. Oesophageal muscular biopsies from 8 patients undergoing surgery for achalasia and from 6 patients operated for oesophageal cancer were investigated by immunofluorescence for the presence of the complement components C1q, C4, C3c, C3d, C9 and the C9 neoantigen of the terminal C5b-C9 complement complex. Tissues were also investigated for the expression of immunoglobulins (G,A,M) and of the antigens of rubella and varicella zoster viruses. In addition, sera of both patient groups were tested for the presence of autoantibodies against Auerbach's plexus. The terminal complement complex C5b-C9 was found within muscle cells from all patients with achalasia but in only one specimen from a patient with cancer. Two patients with achalasia also exhibited the terminal complement complex as well as IgM within ganglion cells. Muscle cells stained positive for the complement component C9 in all five patients with achalasia in whom this test was performed but in none of the control tissues. In addition, sera from four patients with achalasia contained antibodies against Auerbach's plexus. Studies for the complement components C1q, C4, C3c and for antigens of rubella and varicella zoster viruses revealed negative results in all patients and controls. The results of this study suggest that a complement activation is involved in the autoimmune pathogenesis of achalasia. However, the triggering mechanism of this phenomenon remains to be determined.
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PMID:Complement components and terminal complement complex in oesophageal smooth muscle of patients with achalasia. 1203 Apr 28

Interventional therapy and above all the endoscopic interventions have gained importance in the last years. There are a lot of interventional procedures with curative or palliative intention, which value have to be compared with surgical therapy as the therapeutical gold standard. Today the endoscopic hemostasis for ulcer or variceal bleeding are the therapy of choice with very good results. Thus the need for surgery is low. The treatment of benign esophageal stenosis is a domain of the endoscopic therapy. Dilatation with bougies or balloon dilatation get comparable results. In patients with achalasia age and comorbidity of the patients are of great importance for the choice of therapy. In young patients the botulinum toxin injection should be avoided because of a very low long-term efficiency and because surgery become more difficult after botulinum toxin injection. As colorectal cancer is a frequent tumor endoscopic polypectomy and mucosectomy are very important endoscopic procedures, because there is a possibility of cancer prevention and when risk factors are be considered a curative therapy of early colorectal cancer is possible.
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PMID:[Interventions in gastroenterology and hepatology: indications and results]. 1250 72

Carcinoma of the esophagus is frequently diagnosed in advanced clinical stages. When an esophagic carcinoma has infiltrated the submucosa or the muscular or serosa, metastases are a common finding. Thus, early diagnosis and opportune treatment are vital for patients with this type of neoplasm. Timely diagnosis can be done through endoscopic or X-ray studies and confirmed through a histopathological study by directed biopsy. We presently report the case of a 65 year old man with precedents of achalasia who underwent an endoscopic study using the Lugol staining technique for suspected malignant lesion classified as 0-IIc. After two biopsies it was diagnosed as early carcinoma of the esophagus and was subjected to mucosectomy. Histopathological findings are reviewed at architectural and cellular level and are essential to establish the diagnosis of early neoplastic lesions of the esophagus epithelium. These cellular changes are corroborated by immunohistochemical studies with nuclear expression of p53. The relevant literature was reviewed and experiences by Japanese and North American pathologists compared with emphasis on the need for multidisciplinary management to make an early diagnosis by endoscopic studies, Lugol staining, X-rays, biopsy and conservative treatment based on mucosectomy.
J Exp Clin Cancer Res 2002 Dec
PMID:Histopathological diagnosis of biopsy samples from early esophageal carcinoma. 1263 12

Secondary achalasia or pseudoachalasia is mostly caused by gastric or oesophageal carcinoma. Here we report a case of pseudoachalasia caused by a pancreatic tumour invading the cardiac region. A 66-year-old man with a 2-month history of dysphagia and weight loss showed no abnormalities on upper gastrointestinal endoscopy and computed tomography scan, but had no swallow-induced relaxation on oesophageal manometry. Based on the patient's history and oesophageal manometry findings, further investigation was performed to exclude pseudoachalasia. Endoscopic ultrasonography showed abnormalities in the cardiac region, but large endoscopic biopsies showed no malignancy. A laparotomy was performed, which revealed a large, irresectable tumour originating from the pancreatic corpus region and expanding into the gastric cardia region. This case illustrates that a pancreatic tumour invading the cardiac region may present as pseudoachalasia.
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PMID:Pseudoachalasia caused by pancreatic carcinoma. 1281 15

The past decade has seen major advances in the pharmacological understanding of the nervous system of the gastrointestinal tract, the enteric nervous system, and its importance for gut functions in several states of disease. Indeed, the enteric nervous system has become a promising target in the treatment of many gastrointestinal symptoms and disorders. Some of these new therapeutic concepts, such as botulinum toxin for achalasia and serotonergic drugs for functional bowel diseases, are already in clinical use. This paper is part 3 of three Minireviews in Pharmacology & Toxicology, and presents the neurogastrointestinal pharmacological therapeutic options in gastrointestinal pain, functional gastrointestinal disorders, inflammatory bowel diseases, cancer and related conditions with focus on future drug targets. The diagnosis of gastrointestinal neuropathy, the role of serotonin and related neuroendocrine transmitters, serotonergic drugs, and neurotrophic factors in neurogastrointestinal pharmacology will be addressed in this context.
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PMID:The enteric nervous system III: a target for pharmacological treatment. 1282 68

Generalized leiomyomatosis of the esophagus and stomach is a rare disease. According to literature data, age of the patients ranges from 9 to 84 years, in men this disease is diagnosed 2 times more often than in women. It is necessary to differentiate this disease with cancer, esophageal diverticulum, achalasia of the cardia, hiatal hernia. In our case a woman of 32 years was ill from 5 years of age. Correct diagnosis was not made before surgery. Endoscopic examination suspected leiomyoma. Only repeated urgent histological tests during surgery resulted in accurate diagnosis (subtotal leiomyomatosis of the esophagus and proximal stomach) and in adequate surgical policy--subtotal resection of the esophagus and proximal resection of the stomach with Toprover gastrostoma creation. Then, retrosternal esophagocoloplasty was performed. 2 years after the first surgery the state of the patients is satisfactory, there are no symptoms of recurrence of the disease.
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PMID:[Subtotal leiomyomatosis of the esophagus and proximal part of the stomach]. 1292 38

Achalasia is a disease of unknown origin in which there is a denervation of the myenteric plexus on the smooth muscle of the lower oesophageal sphincter, causing a cardial stenosis and a loss of efficacy of oesophageal peristalsis. The predominant symptoms are dysphagia for solids and liquids and regurgitation of the retained food. Occasionally, there may be oesophageal haemorrhage as a consequence of oesophagitis and stasis ulcers. An important but uncommon complication is the development of oesophageal cancer, which is typically squamous cell carcinoma. We report an exceptional case of a 77-year-old woman with a long-term achalasia and mega-oesophagus who presented four episodes of upper gastrointestinal bleeding in a 2 month period. The patient underwent surgical resection of the 10 cm of distal oesophagus, performing a partial fundoplication, and the pathological study revealed an oesophageal infiltration by a low-grade non-Hodgkin's lymphoma. After an insidious outcome, she died on the 47th day after admission.
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PMID:Relapsing upper bleeding in non-Hodgkin's oesophageal lymphoma associated with achalasia. 1450 23

We report the case of a 50-year-old male, a known case of achalasia cardia for 15 years, who after being successfully treated earlier by pneumatic dilatation, presented with recurrent dysphagia due to vascular tethering of the megaoesophagus by the azygos arch simulating a malignant oesophageal stricture. The patient underwent oesophagectomy because of our inability to rule out the possibility of a malignancy developing in the mid-portion of the long-standing megaoesophagus. We wish to highlight the existence of this new clinical entity and the diagnostic as well as therapeutic dilemmas posed by it.
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PMID:Vascular tethering of the megaoesophagus by the azygos arch masquerading as a malignancy. 1497 85

Patients with chagasic achalasia (megaesophagus) are liable to have an additional 1.7-20% possibility of developing esophageal squamous cell carcinoma (ESCC). We applied a fluorescence in situ hybridization technique in 20 such patients and found aneuploidies of chromosomes 7, 11, and 17 in 60% (12 of 20 specimens) and deletion of the TP53 gene in 54.5% (6 of 11 specimens; it was only possible to obtain data by FISH technique from 11 of the 20 achalasia patients). The main aneuploidies detected were chromosome 7 monosomy or trisomy (35%) in mid-third megaesophagus cases, and chromosome 17 monosomy or trisomy (25%) in distal-third cases. TP53 gene deletion was more frequent in mid-third (62.5%) than in distal-third megaesophagus cases (40%). In chagasic megaesophagus, no amplification of the cyclin D1 gene (CCND1) was observed. Comparing chagasic megaesophagus to ESCC, we found a higher frequency of aneuploidies in all 10 tumors. The main alterations were trisomy or tetrasomy of chromosomes 17 (90%), 11 (70%), and 7 (70%). Amplification of CCND1 was evidenced as a cluster in 70% of the tumors (22-99% of nuclei), while TP53 gene deletion occurred in 100%. To our knowledge, this is the first cytogenetic analysis of chagasic megaesophagus to show that aneuploidies of chromosomes 7, 11, and 17, and TP53 gene deletion might be related to increased risk for malignancy.
Cancer Genet Cytogenet 2004 Feb
PMID:Cytogenetic alterations in chagasic achalasia compared to esophageal carcinoma. 1510 78

Although Chagas' disease esophagopaty and idiopathic (primary) achalasia share several similarities, however, some differences between the two diseases have been noticed. To evaluate if treatment options and their results can be accepted universally, the authors review characteristics of both diseases in the international and Latin American literature. Neuronal denervation, sensitivity to gastrin, patient age, duration of symptoms, lower esophageal sphincter pressure, incidence of vigorous achalasia, and cancer risk are considered points of discrepancy between the maladies. Data with a high level of evidence base are scarce; however, differences between the diseases seem to exist, despite the fact that no influence on response to treatment was noticed.
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PMID:Are idiopathic and Chagasic achalasia two different diseases? 1513 81


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