Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benzyldimethyltetradecylammonium chloride (BAC) has previously been used to create amyenteric rat jejunal models. Fifteen opossums (D. virginiana) were injected with 10-15 mL 4 mM BAC or saline in the distal oesophagus and along with controls underwent oesophagoscopy, manometry and barium oesophagrams. Atropine and sodium nitroprusside were studied in six of the BAC-treated and five controls using oesophageal manometry. Histologically several neuronal markers, B-NADPH-diaphorase and acetylcholine esterase histochemical staining were used. NADPH-diaphorase activity was assayed at the lower oesophageal sphincter (LOS) and 3 and 5 cm above LOS in both groups. Oesophagoscopy of the treated animals showed no mucosal inflammation, or strictures. Manometrically, LOS pressures were significantly higher in the BAC-treated group (25.7 +/- 8.6 mmHg) when compared to controls (8.7 +/- 1.8 mmHg). The oesophageal contraction amplitudes were similar in both groups. While sodium nitroprusside (SNP) significantly reduced the LOS pressure, atropine did not alter the resting LOS pressure in the BAC-treated animals. Histologically at the LOS the treated group showed: (i) absence of myenteric neurons, in contrast to prominent NADPH-diaphorase and other neuron and peptide markers in the control and (ii) increase in the number of nerve bundles that were not positive for AchE. No differences were seen in the oesophageal body between the groups. The NADPH-diaphorase assay showed a significant decrease of activity in the BAC-treated LOS, but no differences in the oesophageal body compared to controls. Several of these radiologic, manometric and histological observations resemble features of achalasia and the mechanism of the tonic pressure increase at this early time point appears to be due to a non-cholinergic mechanism.
Neurogastroenterol Motil 1996 Dec
PMID:Evaluation of early events in the creation of amyenteric opossum model of achalasia. 895 39

The triple A or Allgrove's syndrome (MIM*231550) is an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima. Since its first description by Allgrove et al. (1978) more than 70 cases from all over the world have been reported. The syndrome manifests itself during the first decade of life with severe hypoglycaemic episodes which can cause sudden death. The frequent association with neurological disorders presenting as a mixed pattern of upper and lower motor neuropathy, sensory impairment, autonomic neuropathy and mental retardation may result in a severely disabling disease. As an additional feature some patients have hyperkeratosis of their palms and soles. We have performed a systematic genome linkage scan in eight triple A families of which three were consanguineous [including the large highly inbred kindred described by Moore et al. (1991)]. We obtained conclusive evidence for linkage of the triple A syndrome locus to markers on chromosome 12q13 (D12S368, theta max = 0, Zmax = 10.81) with no indication of genetic heterogeneity. Haplotype and multipoint analyses suggest that the gene is located on a chromosomal segment flanked by the markers D12S1629 and D12S312 which are 6 cM apart. This region harbors the type II keratin gene cluster, and potential candidate genes include SCN8A and HOXC genes.
Hum Mol Genet 1996 Dec
PMID:Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. 896 64

We report a case of giant epiphrenic diverticulum in a 43-year-old woman who underwent Heller's myotomy because of achalasia 20 years earlier. She complained of heartburn and dysphagia from March of 1991 and was hospitalized in our institution. An upper gastrointestinal X-ray examination with contrast medium revealed a large hemispheric lesion (7.8 x 4.8 cm) occupying the right posterior wall of the lower thoracic and abdominal esophagus. Manometry revealed a motility disorder and high pressure of the lower esophageal sphincter due to achalasia. Therefore she was diagnosed as having a giant diverticulum with achalasia after Heller's operation. She underwent transhiatal esophagectomy and reconstruction with placement of a gastric tube on June 4, 1992. Pathology results on the resected specimen revealed a false diverticulum. She has been doing well for 4 years since the operation. It has been said that a complication of incomplete long myotomy causes pulsion diverticulum, but we could not find a case of epiphrenic diverticulum after myotomy for achalasia reported in the literature in the last 10 years.
J Gastroenterol 1996 Dec
PMID:Giant epiphrenic diverticulum with achalasia occurring 20 years after Heller's operation. 902 49

Advanced achalasia with serious additional complications is quite rare. It should be seen mostly in individuals who were already unsuccessfully operated. The way definitively solving both dysphagia and the complications of advanced achalasia is the resection of oesophagus. Authors are showing their experience and according to the clinical appearance of the disease and histological examination of the whole extirpated thoracic oesophagus they are discussing acceptability of the extirpation of the whole thoracic oesophagus using regardful technique without thoracotomy. (Tab. 2, Fig. 3, Ref. 8.)
Bratisl Lek Listy 1996 Dec
PMID:[Reoperation after Heller's myotomy]. 913 38

We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory ataxia, achalasia, scoliosis, and inanition develop by third decade. Inversion recovery MRIs of the spinal cord in affected individuals demonstrate a hyperintense signal in the posterior columns. Finding the gene responsible for this disorder may aid in our understanding of the mechanisms that cause sensory neuronal degeneration.
Neurology 1997 Dec
PMID:An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 985 54

Achalasia of the esophagus developed in two male siblings soon after birth, and they were successfully treated by surgery. Persistent signs resulted in the later diagnosis of Hirschsprung's disease. One required subtotal colectomy and ileoanal anastomosis, and the other is managing well on conservative treatment. Genetic analysis of the genes encoding the RET protooncogene, endothelin-3, and the endothelin-3 receptor did not show any defect. Familial achalasia of the esophagus in combination with Hirschsprung's disease has never been reported.
J Pediatr Surg 1997 Dec
PMID:Coexistent Hirschsprung's disease and esophageal achalasia in male siblings. 943 37

The term "oesophageal achalasia" describes a neuropathic disorder characterized by abnormal motility of the oesophagus and incomplete or absent relaxation of the lower oesophageal sphincter. In these patients with "paroxysmal" dysphagia, barium swallow and manometric study confirm the diagnosis. In our opinion, the treatment of choice is extramucosal tardiomyotomy (Heller) which should be followed by gastric fundoplication in order to protect the mucosa and prevent gastrooesophageal reflux. We present our experience in the laparoscopic approach to Heller cardiomyotomy in children. An anterior 180 degrees hemi-fundoplication, according to Dor technique, is performed suturing the left and right oesophageal muscular margin to the gastric wrap. A manometric examination is mandatory in order to detect the complete incision of the lower oesophageal sphincter and to confirm the creation of the new-high pressure zone. This preliminary experience confirms that the laparoscopic approach can be used for the treatment of oesophageal achalasia also in children.
Eur J Pediatr Surg 1997 Dec
PMID:The surgical approach to oesophageal achalasia. 949 81

In the last 20 years considerable progress has been achieved--among others--in motility associated disorders, in chronic inflammatory bowel diseases (ulcerative colitis, Crohn's disease) and in the treatment and prophylaxis of bleeding from esophageal varices. The motility associated diseases achalasia, functional dyspepsia, irritable bowel syndrome and intestinal pseudoobstruction can be better treated now with drugs which either promote or inhibit motility. In chronic-inflammatory bowel diseases controlled studies have defined the role of salazosulfapyridine, 5-aminosalicylic acid, glucocorticoids, azathioprine and metronidazole. The bleeding from esophageal varices is handled nowadays successfully with a combination of mechanical treatment (sclerosing and banding) and lowering the portal pressure by vasoactive substances or the somatostatin analogue octreotide. The prophylaxis of bleeding with noncardioselective betablockers is also introduced on the base of controlled trials.
Arzneimittelforschung 1997 Dec
PMID:[Gastroenterology. I: General gastroenterology]. 949 75

Squamous cell carcinoma (SCC) of the esophagus is an often-lethal disease that most commonly presents in an advanced stage with dysphagia in elderly patients. Known risk factors include alcohol and tobacco abuse, lye stricture, and achalasia. Screening protocols for high-risk patients are practiced in Japan but not in the United States. The diagnosis usually is made based on the results of esophagogastroduodenoscopy and contrast upper gastrointestinal radiographs. Staging is determined using computed tomography scanning and esophageal ultrasound, the latter rapidly being accepted as a superior method. Treatment is based on the stage of disease at presentation. Lesions without metastatic spread or mediastinal invasion generally should be treated with esophagectomy. Dysphagia associated with advanced lesions is difficult to treat, but may be palliated by surgery, radiation therapy, chemotherapy, laser ablation, peroral dilation, or esophageal stenting. Despite numerous medical advances, little headway has been made in managing and treating SCC, and a multidisciplinary approach is recommended.
Surg Oncol 1997 Dec
PMID:Squamous cell carcinoma of the esophagus: a review and update. 977 5

Achalasia is one of the earliest recognized gastroenterological conditions. However, several centuries after it was first described, it remains also among the least understood. One of the main reasons for this is the relative rarity of the disease, which has resulted in limited opportunities to conduct investigative research. Few epidemiological studies have been conducted to date, and their data suggest a worldwide incidence estimated at between 0.03-1.1/10(5)/yr. This review of the literature on the epidemiology of achalasia lends support to the idea that pooling of resources and collaboration at an international level is required, if any significant progress in the cause, treatment, and prevention of the disease is to be made.
Am J Gastroenterol 1998 Dec
PMID:Achalasia: a critical review of epidemiological studies. 986 Mar 90


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