Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients who present with uncontrolled esophageal acid reflux symptoms require endoscopy to determine the presence or absence of ulcers and stenoses, acid reflux testing to determine if acid reflux is present, and manometry to evaluate esophageal peristalsis and spastic states. These studies are usually done in stages, at separate times. Esophageal manometry catheters currently in use have an incorporated infusion channel. This allows instillation of a dilute acid meal after esophageal manometry has been completed. Standard acid reflux testing can then be done using dynamic positioning and physiologic maneuvers. When combined with an esophagogastroduodenas copy (EGD), these three studies provide all information necessary within 2-3 h to determine further treatment of these patients. A total of 210 patients underwent these studies. A hiatus hernia was present in 84%. An ineffective lower esophageal sphincter was found in 64%. Esophageal hypocontractility was present in 18%, hypercontractility in 14%, and dysmotility in 36%. Upper esophageal sphincter was weak in 42%, hypercontractile in 42%, and dysmotile in 32%. Acid reflux disease was found in the hiatus hernia in 14% and acid reflux to the level of the lower esophagus in 16%, middle esophagus in 13%, and upper esophagus in 40%. Distal esophagitis was present in 47%, esophageal ulceration in 29%, gastric prolapse in 11%, gastritis in 52%, bile reflux disease in 10%, and Barrett's epithelium in 5%. In conclusion, an extremely high number of patients with esophageal acid reflux disease show dysmotility patterns. Standard acid reflux testing using dynamic positioning will identify most patients with significant acid reflux disease. When combined with an EGD, complete testing for acid reflux disease can be performed at one setting. Further study is needed comparing dynamic acid reflux testing to 24-h pH testing.
 ...
PMID:Standard acid reflux testing revisited. 1131 39

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

The prevalence of gastroesophageal (GE) mucosal prolapse in patients with gastroesophageal reflux disease (GERD) was investigated as well as the clinical profile and treatment outcome of these patients. Of the patients who were referred to our service between 1980 and 2008, those patients who received a complete diagnostic work-up, and were successively treated and followed up at our center with interviews, radiology studies, endoscopy, and, when indicated, esophageal manometry and pH recording were selected. The prevalence of GE prolapse in GERD patients was 13.5% (70/516) (40 males and 30 females with a median age of 48, interquartile range 38-57). All patients had dysphagia and reflux symptoms, and 98% (69/70) had epigastric or retrosternal pain. Belching decreased the intensity or resolved the pain in 70% (49/70) of the cases, gross esophagitis was documented in 90% (63/70) of the cases, and hiatus hernias were observed in 62% (43/70) of the cases. GE prolapse in GERD patients was accompanied by more severe pain (P < 0.05) usually associated with belching, more severe esophagitis, and dysphagia (P < 0.05). A fundoplication was offered to 100% of the patients and was accepted by 56% (39/70) (median follow up 60 months, interquartile range 54-72), which included two Collis-Nissen techniques for true short esophagus. Patients who did not accept surgery were medically treated (median follow up 60 months, interquartile range 21-72). Persistent pain was reported in 98% (30/31) of medical cases, belching was reported in 45% (14/31), and GERD symptoms and esophagitis were reported in 81% (25/31). After surgery, pain was resolved in 98% (38/39) of the operative cases, and 79% (31/39) of them were free of GERD symptoms and esophagitis. GE prolapse has a relatively low prevalence in GERD patients. It is characterized by epigastric or retrosternal pain, and the need to belch to attenuate or resolve the pain. The pain is allegedly a result of the mechanical consequences of prolapse of the gastric mucosa into the esophagus.
Dis Esophagus 2012 Aug
PMID:Prevalence and clinical picture of gastroesophageal prolapse in gastroesophageal reflux disease. 2210 97

Type 1 myotonic dystrophy (MD) is a rare inherited disease which presents with skeletal muscle weakness and myotonia. Involvement of smooth muscles is also common and mainly manifests in the gastrointestinal tract. We report a case of type 1 MD who presented with dysphagia and was found to have unique esophageal manometry findings. A 57-year-old male patient presented with dysphagia for the last few months. Past medical history was significant for type 1 myotonic muscular dystrophy, gastroesophageal reflux disease, diaphragmatic paralysis, and obstructive sleep apnea. Both his father and brother died in their 50s because of unclear respiratory problems. He was a former smoker and did not drink alcohol. Review of systems was unremarkable. His neurological examination was significant for bilateral facial muscle weakness and mild ptosis. He had atrophy and weakness of the distal upper and lower extremities. Deep tendon reflexes were absent. Upper endoscopy and 24-hour esophageal pH testing were non-diagnostic. Finally, esophageal manometry revealed elevated lower esophageal sphincter (LES) pressure, elevated upper esophageal sphincter (UES) pressure, and very week peristalsis of the esophageal body. Esophageal involvement is common in type 1 MD manifesting with dysfunction of UES, esophageal body, and LES. Manometry usually describes a reduced resting tone of the UES and LES. The patient had elevated LES pressure and week peristalsis of the esophageal body consistent with achalasia. He also had an elevated UES pressure consistent with cricopharyngeal achalasia. This is the opposite of what is expected in type 1 MD.
 ...
PMID:Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy: a case report. 3230 42