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)

Triple A syndrome, also known as Allgrove syndrome, is a rare disease, and presents mainly in children. Its cardinal symptoms are achalasia, alacrima, and adrenocorticotropic hormone (ACTH) insensitivity. We report three cases of Triple A syndrome. Our aim is to inform pediatric surgeons about the existence of this rare syndrome and to highlight the need for suspicion of alacrima and ACTH insensitivity in cases of pediatric achalasia. Triple A syndrome should be considered in patients presenting with achalasia. Alacrima should be investigated by a Schirmer test, and adrenal dysfunction should be tested in cases of suspected triple A.
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PMID:Three cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view. 2738 99

Guillain-Barre syndrome (GBS)-associated achalasia is a very rare disease of uncertain cause. We report the case of a patient diagnosed with GBS-associated type I achalasia who was successfully treated with peroral endoscopic myotomy (POEM). A 30-year-old man who was diagnosed with GBS 3 mo before was referred to our department with dysphagia and meal-related regurgitation. The results of esophagography, endoscopy, and high-resolution manometry (HRM) revealed type I achalasia. POEM that utilized a submucosal tunneling technique was performed to treat the GBS-associated type I achalasia. After POEM, smooth passage of a contrast agent into the stomach was shown in follow-up esophagography, and follow-up HRM revealed a decrease in the mean integrated relaxation pressure 22.9 mmHg to 9.6 mmHg. The patient remained without dysphagia for 7 mo, even though the patient's neurological problems were not fully resolved. POEM may be a safe and effective treatment for GBS-associated type I achalasia.
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PMID:Peroral endoscopic myotomy for treatment of Guillain-Barre syndrome-associated achalasia: A rare case. 2822 38

Oesophagogastric invagination is a relatively rare disease that is primarily caused by a sliding hiatal hernia. We report a successfully treated case of oesophagogastric invagination caused by achalasia. Oesophagogastric invagination should be considered in patients complaining of upper abdominal discomfort.
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PMID:Oesophagogastric invagination. 2880 17

Achalasia is a rare disease characterized by impaired lower esophageal sphincter relaxation loss and of peristalsis in the esophageal body. Endoscopic balloon dilation and laparoscopic surgical myotomy have been established as initial treatment modalities. Indications and outcomes of esophagectomy in the management of end-stage achalasia are less defined. A literature search was conducted to identify all reports on esophagectomy for end-stage achalasia between 1987 and 2017. MEDLINE, Embase, and Cochrane databases were consulted matching the terms "achalasia," "end-stage achalasia," "esophagectomy," and "esophageal resection." Seventeen articles met the inclusion criteria and 1422 patients were included in this narrative review. Most of the patients had previous multiple endoscopic and/or surgical treatments. Esophagectomy was performed through a transthoracic (74%) or a transhiatal (26%) approach. A thoracoscopic approach was used in a minority of patients and seemed to be safe and effective. In 95 per cent of patients, the stomach was used as an esophageal substitute. The mean postoperative morbidity rate was 27.1 per cent and the mortality rate 2.1 per cent. Symptom resolution was reported in 75 to 100 per cent of patients over a mean follow-up of 43 months. Only five series including 195 patients assessed the long-term follow-up (>5 years) after reconstruction with gastric or colon conduits, and the results seem similar. Esophagectomy for end-stage achalasia is safe and effective in tertiary referral centers. A thoracoscopic approach is a feasible and safe alternative to thoracotomy and may replace the transhiatal route in the future.
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PMID:Esophageal Resection for End-Stage Achalasia. 2971 97


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