Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0154059 (Esophagus)
 2,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oculopharyngeal muscular dystrophy is a hereditary pathology transmitted in an autosomal dominant manner. The clinical symptoms are palpebral ptosis, oropharyngeal dysphagia and proximal limb weakness. Upper gastro-esophageal endoscopy is recommended to study the dysphagia, a video-radiology study with barium and an esophageal manometry to study the pharyngeo-esophageal motor disorder. Muscle biopsy reveals the presence of atrophic fibers substituted by an increase in fat and connective tissue. In 1998 Brais described the genetic alteration responsible for this pathology, a limited expansion of the triplet of GCG nucleotides in PABP2 gene on chromosome 14q11. Normal individuals have the homozygotic form (GCG)6 of this triplet, whereas patients with the described syndrome have the heterozygotic form (GCG)6-(GCG)9 or (GCG)6-(GCG)10. We present three siblings from the same family with diagnoses and genetic confirmations of oculopharyngeal dystrophy. Two of the patients underwent cricopharyngeal myotomy to relieve the dysphagia.
Dis Esophagus 2003
PMID:Diagnosis and treatment of oculopharyngeal dystrophy: a report of three cases from the same family. 1282 21

Eosinophilic esophagitis is an uncommon pathology that generally affects children with a history of allergies and intrinsic asthma. We present a clinical case of eosinophilic esophagitis in a 16-year-old boy with upper dysphagia for solids since childhood. The analytical study showed only a repeat serum eosinophilia. Barium transit disclosed a reduction in caliber of the whole esophagus. Functional esophageal tests with pH monitoring and manometry were normal. Endoscopy showed a small-diameter esophagus and fibrosis with a very friable mucosa. The histological study of the esophageal biopsies revealed a full thickness major eosinophil infiltration of the esophagus. These findings suggest a differential diagnosis with a great variety of pathologies that can cause similar lesions in the esophagus, especially between primary eosinophilic esophagitis and eosinophilic esophagitis secondary to gastro-esophageal reflux disease (GERD). We implemented medical treatment with oral corticoids and total suppression of allergens from the diet, and the patient was asymptomatic.
Dis Esophagus 2003
PMID:Primary eosinophilic esophagitis. 1282 22

Two hundred and forty Brazilian patients with chest pain and normal cardiac evaluation were submitted to computerized esophageal manometry. Endoscopic examination and/or swallow barium studies had excluded obstructive lesions. Motor disorders were found in 63% of patients; non-specific motors disorders and hypotensive lower esophageal sphincter were the most common. The finding of nutcracker esophagus in only 6% of the patients is a quite different rate from what has been previously described in the literature. Esophagitis was observed at endoscopy in 13.4% of the patients, hiatus hernia in 19.7% and peptic gastric or duodenal ulcer in 4.9%. It should be emphasized that after excluding pain as being of cardiac origin an abnormal manometry result points to the esophagus as the probable site of origin of the pain; esophageal investigation is important for establishing proper treatment for these patients.
Dis Esophagus 2000
PMID:Manometric findings of esophageal motor disorders in 240 Brazilian patients with non-cardiac chest pain. 1460 1

Diffuse leiomyomatosis of the oesophagus is a rare entity among oesophageal diseases. Histopathologically it is characterized by diffuse hypertrophy of the muscular layer extending to the whole oesophagus predominantly in the lower third, where it can result in tumour formation. Leiomyomatosis can involve the upper part of the stomach and is frequently associated with genital or tracheobronchial (bronchitracheal) muscular localizations. Also, it can be associated with Alport's syndrome in familial cases. For diagnosis, barium swallow, computerized tomography (CT) scan and, in recent years, endoscopic ultrasonography are used. Oesophageal resection is the only suitable treatment in symptomatic cases. We report three observations during 1979-95.
Dis Esophagus 2000
PMID:Diagnosis and management of diffuse leiomyomatosis of the oesophagus. 1460 11

The treatment of para-esophageal hernia by the laparoscopic approach has been described by a number of authors. The lower morbidity of the laparoscopic approach compared with the open approach holds some attraction, however, reservations regarding the durability of laparoscopic repair exist. There is a paucity of objective follow-up data in the literature with regard to repair durability and symptomatic outcome. A review was undertaken of 94 patients over a 7 year period undergoing attempted laparoscopic repairs of para-esophageal hernia. Preoperative and operative data was collected and patients underwent postoperative interview and barium meal. Laparoscopic repair was successfully completed in 86 patients. Symptomatic reherniation occurred in 12% (10/86) of patients undergoing laparoscopic repair. These patients underwent open reoperative surgery. There were no symptomatic recurrences in patients undergoing initial open repair. Symptomatic outcome was assessed by interview in 78% (73/94) of patients at a median of 27 months (3-93 months) postoperatively. Ninety-seven percent (71/73) of patients were satisfied with their ultimate symptomatic outcome however, this group included seven patients who had required reoperative surgery for symptomatic recurrence and were therefore laparoscopic failures. In order to determine the asymptomatic recurrence rate patients were requested to undergo a barium meal. A further nine small asymptomatic recurrences were diagnosed in 42 patients having had laparoscopic repair. This represents an asymptomatic radiographic recurrence rate of 21%. Laparoscopic repair in this series was associated with a 12% symptomatic recurrence rate. The majority of patients with symptomatic recurrence underwent open reoperation with good results. Strategies for reducing recurrences should be examined in prospective series.
Dis Esophagus 2004
PMID:Symptomatic and radiological follow-up after para-esophageal hernia repair. 1556 63

Pneumatic balloon dilatation is the treatment of choice for esophageal achalasia. Rigiflex (Microvasive, Watertown, MA) polyethylene balloon dilators have been used with varying success and complications. The aim of this study was to evaluate the efficacy of graded balloon dilatation, to achieve symptomatic improvement in patients with achalasia. From January 1987 until the end of December 2003, 300 patients were evaluated and treated for achalasia, with 30 mm balloons. Patients who did not achieve satisfactory symptomatic responses during follow up underwent repeat dilatation with 35-mm balloons. They were studied at the onset then at 1 and 6 month intervals and then yearly for postdilatation symptom evaluation for dysphagia, regurgitation, night cough and heartburn. Baseline and 5-min postdilatation barium swallow studies were obtained to compare barium height and width for efficacy of dilatation and to evaluate for complications. No patients developed cancer of the esophagus in 16 years follow up. Barium height, width, composite symptom score and weight improved significantly during follow up. Two patients, who needed repeat dilatation with 35-mm balloons, developed esophageal perforation; one was successfully managed with intensive medical care management, whereas the other patient died despite surgical intervention. The authors conclude that pneumatic balloon (Rigiflex) dilatation for achalasia of the esophagus is a successful first option, when applied in an incremental balloon size to achieve desired results in symptomatic relief.
Dis Esophagus 2005
PMID:Sixteen years follow up of achalasia: a prospective study of graded dilatation using Rigiflex balloon. 1577 41

SUMMARY. The timed barium esophagogram (TBE) is a further development of the barium swallow, introducing functional and dynamic dimensions to the assessment. The purpose of our study was to assess the day to day variability of TBE parameters when scored in healthy subjects, in untreated and in previously treated patients with confirmed diagnoses of achalasia and to assess the intra- and interobserver agreement. After fasting, the subjects drank 250 mL of low-density barium sulfate suspension. Radiographs of the esophagus were exposed at 1, 2 and 5 min after the start of the barium ingestion. The heights and widths of the barium column and changes in these parameters over time (esophageal emptying) were assessed. Each subject was re-tested after a median time interval of 8 days. Healthy individuals emptied their esophagi effectively and promptly with no significant amount of contrast remaining in the lumen after 2 min. In the achalasia patients all TBE variables differed profoundly compared to the controls. There was an excellent intra- and interobserver agreement for all measured variables. The reproducibility of the static TBE variables from day-to-day was good, but not so for the functional assessment of esophageal emptying, having a correlation coefficient of only 0.50. The usefulness of TBE as a clinical and research tool in achalasia patients requires further evaluation.
Dis Esophagus 2005
PMID:Timed barium esophagogram in the assessment of patients with achalasia: reproducibility and observer variation. 1605 84

We report on a 75-year-old woman with an isolated colonic hernia through the esophageal hernia. The patient had suffered from cough, palpitation and dyspnea. A chest X-ray showed a colon loop gas in the mediastinum. Simultaneous barium swallow and enema showed the herniation of the only transverse colon into the mediastinum and displacement of the distal esophagus by the migrated colon. The patient underwent an open-mesh cruroplasty and a Hill's posterior gastropexy. The postoperative clinical course was uneventful. The patient has cessation of the symptoms. To our knowledge, there are only five reports presenting patients with isolated colonic hernia through the esophageal hiatus, including our case.
Dis Esophagus 2005
PMID:Isolated colonic hernia through the esophageal hiatus. 1612 88

Hiatal hernias are frequently diagnosed during upper endoscopy or barium radiography. They can also be identified based on the typical 'double high pressure zone' or 'double hump' during stationary manometric pull-through. This paper aims to compare manometric and endoscopic identification of hiatal hernias. We retrospectively reviewed records of patients who had an esophageal manometry performed in our laboratory between July 2002 and July 2003. We identified 153 patients (104 females, mean age 56 years) who had both an esophageal manometry and upper endoscopy. The manometric studies were reviewed looking for the characteristic double high-pressure zone characteristic of hiatal hernia. The endoscopic reports were reviewed for the independent identification of an hiatal hernia. Information on race, gender, presence of hiatal hernias, esophagitis, and symptoms during esophagogastroduodenoscopy (EGD) exams was recorded from the reports of patients who had both EGD and manometric studies at our institution. Of the 153 patients with both endoscopy and manometry, 11 (7%) had an hiatal hernia identified by manometry compared to 51 (33%) by endoscopy. Ten (91%) of the manometrically identified hiatal hernias were also seen on endoscopy. Compared to endoscopy (gold standard), esophageal manometry had a sensitivity of 20% and a specificity of 99% for detecting hiatal hernias. Manometric identification of an hiatal hernia is an infrequent finding with low sensitivity but high specificity compared to endoscopy.
Dis Esophagus 2005
PMID:Identification of hiatal hernia by esophageal manometry: is it reliable? 1619 31

Two achalasia patients with former complaints of heartburn were examined. Antisecretory drugs were used by the patients when dysphagia occurred. Barium X-ray and esophageal manometry were performed and achalasia was diagnosed in both patients. Twenty-four-hour pH-metry showed significant and long-lasting acid reflux during supine position. Prolonged reflux episodes can be explained not only by the swallow-unrelated transient relaxation of lower esophageal sphincter (LES) and mechanical damage of the esophageal body, but also by its chemical insensitivity. Thus preoperative detection of reflux should determinate either the operational procedure and the postoperative follow up of the patient.
Dis Esophagus 2005
PMID:Gastroesophageal reflux disease progressing to achalasia. 1619 40


<< Previous 1 2 3 4 5 6 7 8 Next >>