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 (Allgrove) syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Affected individuals have between two and four of these relatively common clinical problems; hence the diagnosis is often difficult in all but the classical presentation. The inheritance is autosomal recessive, and most cases of triple A have no family history. Using genetic linkage analysis in a small number of families, a locus on chromosome 12q13 was identified. The triple A gene was identified recently at this locus and called ALADIN (alacrima, achalasia, adrenal insufficiency neurologic disorder). Mutations in this gene were reported in families from North Africa and Europe. The majority of mutations were homozygous. We have identified 20 families with between two and four of the clinical features associated with the triple A syndrome. Sequencing of the triple A gene revealed five families that had a total of nine compound heterozygous mutations, and one Portuguese family (previously published) had two homozygous mutations; these changes were spread throughout the triple A gene in exons 1, 2, 7, 8, 10, 11, 12, 13 and 16, and the poly(A) tract. Those bearing mutations had the classical triple A syndrome of achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. We identified a spectrum of associated neurological abnormalities in these cases, including pupil and cranial nerve abnormalities, frequent optic atrophy, autonomic neuropathy and upper and lower motor neurone signs including distal motor neuropathy and amyotrophy with severe selective ulnar nerve involvement. In these families, we have made genotype-phenotype correlations. Mutations in the triple A gene are thus an important cause of this clinically heterogeneous syndrome, and sequencing represents an important diagnostic investigation. Identifying further mutations and defining their phenotype along with functional protein analysis will help to characterize this neuroendocrine gene.
Brain 2002 Dec
PMID:Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 1242 95

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

The pathogenesis of achalasia involves the degeneration of enteric and autonomic nervous systems with resultant effects on esophageal motility. The neural degeneration could affect visceral sensation in achalasia. The aim of this study was to examine mechanosensitivity and chemosensitivity in patients with achalasia. Perceptual responses to esophageal distension and acid perfusion were assessed in nine achalasia patients and nine healthy subjects. Mechanosensitivity was evaluated using a barostat with a double-random staircase distension protocol. Responses were graded as follows: 0, no sensation; 1, initial sensation; 2, mild discomfort; 3, moderate discomfort; and 4, pain. Chemosensitivity was graded along a visual analog scale after perfusion of saline and 0.1 N HCl. Barostat pressure-volume relationships were used to report esophageal body compliance. Barostat pressures for initial sensation and mild discomfort were not significantly different for patients and controls. The pressures for moderate discomfort (37.9 +/- 3.5 vs. 25.7 +/- 2.4 mmHg; P < 0.05) and pain (47.8 +/- 2.3 vs. 32.2 +/- 3.5 mmHg; P = 0.002) were significantly higher in achalasics than controls. Seven of the eight achalasia patients never reached pain thresholds at the maximum distension pressure (50 mmHg). Sensation to acid perfusion was significantly lower in achalasics compared with controls (2.2 +/- 1.2 vs. 6.7 +/- 1.7 cm; P < 0.05). Compliance was significantly increased in patients with achalasia compared with controls. We conclude that both mechanosensitivity and chemosensitivity are significantly diminished in achalasia patients compared with controls. Also, initial sensation and pain sensation are differentially affected in achalasics. These findings suggest that neuropathic defects in achalasia may manifest themselves in visceral sensory and motor dysfunction.
Am J Physiol Gastrointest Liver Physiol 2003 Dec
PMID:Diminished mechanosensitivity and chemosensitivity in patients with achalasia. 1461 20

Hypertensive lower esophageal sphincter (LES) is an uncommon manometric abnormality found in patients with dysphagia and chest pain, and is sometimes associated with gastroesophageal reflux disease (GERD). Preventing reflux by performing a fundoplication raises concerns about inducing or increasing dysphagia. The role of myotomy in isolated hypertensive LES is also unclear. The aim of this study was to determine the outcome of surgical therapy for isolated hypertensive LES and for hypertensive LES associated with GERD. Sixteen patients (5 males and 11 females), ranging in age from 39 to 89 years, with hypertensive LES (>26 mm Hg; i.e., >95th percentile of our control population) who had surgical therapy between 1996 and 1999 were reviewed. Patients with a diagnosis of achalasia and diffuse esophageal spasm were excluded. All patients had dysphagia or chest pain. Eight of 16 patients had symptoms of GERD, four had a type III hiatal hernia, and four had isolated hypertensive LES pain. Patients with hypertensive LES and GERD or type III hiatal hernia had a Nissen fundoplication, and those with isolated hypertensive LES had a myotomy of the LES with partial fundoplication. Outcome was assessed as follows: excellent if the patient was asymptomatic; good if symptoms were present but no treatment was required; fair if symptoms were present and required treatment; and poor if symptoms were unimproved or worsened. All patients were contacted by telephone for symptom assessment at a median of 3.6 years (range 3 to 6.1 years) after surgery. Patients with hypertensive LES and GERD or type III hiatal hernia had significantly lower LES pressure than those with isolated hypertensive LES (29.9 vs. 47.4 mm Hg; P=0.013). Dysphagia and chest pain were relieved in all patients at long-term follow up. Outcome was excellent in 10 of 16, good in 3 of 16, and fair in 3 of 16. All patients but one were satisfied with their outcome. Patients with hypertensive LES are a heterogeneous group in regard to symptoms and etiology. Treatment of patients with hypertensive LES should be individualized. A Nissen fundoplication for hypertensive LES with GERD or type III hiatal hernia relieves dysphagia and chest pain suggesting reflux as an etiology. A myotomy with partial fundoplication for isolated hypertensive LES relieves dysphagia and chest pain suggesting a primary sphincter dysfunction.
J Gastrointest Surg 2003 Dec
PMID:Surgical management of hypertensive lower esophageal sphincter with dysphagia or chest pain. 1467 8

A 4-month-old, female terrier-poodle cross was presented with a chronic history of dysphagia. Fluoroscopic swallowing studies localized the problem to the upper esophageal sphincter. A diagnosis of cricopharyngeal achalasia was made. After cricopharyngeal and thyropharyngeal myectomy, the dog was able to eat soft food without difficulty.
Can Vet J 2003 Dec
PMID:Cricopharyngeal achalasia in a dog. 1470 88

FROM AN ETIOLOGICAL POINT OF VIEW: Thoracic pain is a frequent symptom. Before confirming the oesophageal origin of the pain, a coronary disease must be excluded. Two principle causes are source of thoracic pain of oesophageal origin: gastro-oesophageal reflux disease and oesophageal motility abnormalities. THE DIAGNOSTIC APPROACH: This must include the questioning of the patient and the usual paraclinical examinations. To confirm the diagnosis, these examinations must establish a chronological relationship between the symptoms and the abnormalities. For economic reasons, following a normal gastroscopy, there is a tendency to propose an empirical proton pump inhibitor (PPI) test rather than a 24 hour pH-metry antireflux as first line. The improvement or even the disappearance of the symptoms confirms the diagnosis; long-term treatment with a double dose of PPI should therefore be envisaged. The pH-metry with search for results should be proposed to the non-responders and to patients with atypical reflux manifestations. Dysphagia and odynophagia suggest an oesophageal motility disorder that basal manometry should confirm. A chronological relationship is rarely revealed, but the sensitivity of the pH-meter can be enhanced by provocation tests. REGARDING TREATMENT: Other than achalasia, treatment of the other spastic-like motor disorders is not well codified. Diltiazem is efficient. Some patients exhibit a hyperalgic oesophagus. The physiopathological mechanisms are still theoretical. Low dose tricyclic antidepressors and psychological management are useful.
Presse Med 2003 Dec 20
PMID:[Thoracic pain of oesophageal origin. Diagnostic management and treatment]. 1471 71

There is a subgroup of patients with achalasia in which manometry shows elevated intraesophageal pressure, expressed by elevation of esophageal baseline relative to gastric pressure. The aim of this study was to determine the prevalence of elevated intraesophageal pressure in patients with achalasia and its relationship to clinical, radiographic, endoscopic, and other manometric findings. Manometric studies of 62 patients with achalasia were analyzed and elevated intraesophageal pressure was considered any positive elevation of esophageal baseline relative to gastric pressure. Multiple regression analysis was used to determine independent risk factors associated with elevated intraesophageal pressure. Elevated intraesophageal pressure was found in 32 patients (51.6%). Lower esophageal sphincter pressure was the only independent variable associated with elevated intraesophageal pressure (P = 0.0167). Mean lower esophageal sphincter pressure was significantly higher in patients with elevated compared to those with normal intraesophageal pressure (34 +/- 1.96 vs 26.5 +/- 1.73 mm Hg; P = 0.006). In addition, lower esophageal sphincter pressure had a positive correlation with intraesophageal pressure (r = 0.49, P < 0.001). Conversely, no correlation was found between elevated intraesophageal pressure and various symptoms, disease duration, radiologic dilation, a finding of retained fluid during endoscopy, and esophageal length. We conclude that elevated intraesophageal pressure is a common manometric finding in patients with achalasia, with a prevalence of 51.6%, and is associated with significantly higher lower esophageal sphincter pressure.
Dig Dis Sci 2003 Dec
PMID:Elevated intraesophageal pressure in patients with achalasia: a common and important manometric finding. 1471 8

Currently available robotic surgical systems appear to be particularly suited for use in benign diseases of the gastrointestinal system. Minimally invasive operations for foregut conditions, such as gastroesophageal reflux disease and achalasia, require excellent visibility and precise tissue dissection. Benign lower gastrointestinal diseases, including inflammatory bowel disease and diverticulitis, also can be approached using robotic assistance. Disadvantages include expense and the loss of tactile feedback. Early clinical results are promising.
Semin Laparosc Surg 2003 Dec
PMID:Laparoscopy for benign disease: robotics. 1476 Apr 69

Despite the extensive impact of autonomic function on the gastrointestinal system, there is little understanding of the mechanisms by which specific autonomic abnormalities translate into particular gastrointestinal complaints. Three logical alternatives include: (1) the underlying disorder affects the autonomic and gastrointestinal systems independently; (2) autonomic dysfunction alters gastrointestinal processing directly; (3) gastrointestinal manifestations arise as a delayed, indirect consequence of autonomic dysfunction. The major gastrointestinal manifestations of dysautonomia include esophageal dysmotility such as achalasia, gastroparesis, and small bowel bacterial overgrowth in the upper tract. Lower tract disorders include diarrhea, fecal incontinence, and constipation. Sorting through the varied causes of these disorders requires a careful history and examination in each patient. Supportive diagnostic studies may include radionuclide imaging, motility examination, and electrogastrography. Autonomic studies can (1) distinguish a purely enteric from a more generalized dysautonomia; (2) provide surrogate information about motility; (3) differentiate primary (e.g., multiple system atrophy) from secondary (e.g., irritable bowel syndrome) dysautonomias as the etiology of gastrointestinal symptoms. Several new strategies are available for the treatment of gastroparesis, constipation, irritable bowel, and sphincteric incontinence.
Semin Neurol 2003 Dec
PMID:Evaluation and treatment of autonomic disorders of the gastrointestinal tract. 1508 66

Achalasia is a disease that characterized by relaxation hazard of lower esophageal sphincter. In patients with achalasia, it's known that gastric emptying time is delayed. In this study we aimed to evaluate the difference between the gastric emptying time before and after pneumatic balloon dilatation. Nine achalasia patients (7 female, mean age 51.5 +/- 13.1, range 36-71 year) that were diagnosed as clinically, radiologically and manometrically were enrolled into the study. In all patients, before and after pneumatic dilatation, gastric emptying time was measured with radionuclide method after eating a solid meal. In severely effected patients labeled egg was passed to stomach by a nasogastric tube. One hour after observing initial gastric activity, irradiation was detected dynamically. Radionuclide emptying time before (T1/2) dilatation was a mean of 301.9 +/- 64.7, and after dilatation 221.7 +/- 370.8 minute (p=0.018). As a result, elongation in gastric emptying time in patients with achalasia significantly decreases after effective pneumatic balloon dilatation.
Hepatogastroenterology 2003 Dec
PMID:The effect of pneumatic balloon dilatation on gastric emptying in patients with achalasia. 1524 8


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