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)

Type 1 antineuronal nuclear autoantibody (ANNA-1, also known as "anti-Hu") is a marker of neurologic autoimmunity that is highly associated with small-cell lung carcinoma (SCLC). To determine the spectrum of symptoms and signs as well as the frequency of cancer in adult patients who are seropositive for ANNA-1, we reviewed 162 sequential patients (67% female) identified as ANNA-1-positive in a comprehensive immunofluorescence screening test. In 21% of these patients, the antibody test requested by the physician was not ANNA-1. By the end of the follow-up period, cancer had been found in 142 patients (88%). Ten of these lacked evidence of SCLC (4 had prostate carcinoma, 3 breast carcinoma, 1 both prostate carcinoma and melanoma, 1 lymphoma, and 1 squamous-cell lung carcinoma). Of the 132 patients (81%) with proven SCLC, 17 had one or more coexisting malignant neoplasms (6 had renal carcinoma, 4 another lung primary carcinoma, 3 prostate carcinoma, 3 breast carcinoma, and 4 assorted neoplasms). The diagnosis of SCLC in 128 patients (97%) followed the onset of paraneoplastic symptoms. SCLC was identified in 10 patients by chest MRI after an equivocal chest radiograph or CT; in 28 by bronchoscopy, mediastinoscopy, or thoracotomy; and in 7 at autopsy. Neurologic signs in decreasing frequency were neuropathy (sensory > mixed somatic > autonomic > cranial [especially cranial nerve VIII] > motor), cerebellar ataxia, limbic encephalitis, polyradiculopathy, associated Lambert-Eaton myasthenic syndrome, myopathy, myelopathy, opsoclonus/myoclonus, motor neuronopathy, brachial plexopathy, and aphasia. Nineteen patients had a solely gastrointestinal initial presentation, including gastroparesis, pseudo-obstruction, esophageal achalasia, or other dysmotility. We conclude that seropositivity for ANNA-1 can expedite the diagnosis and treatment of otherwise occult cancer in patients, especially tobacco abusers, with varied neurologic and gastroenterologic presentations. The search for SCLC should not end on discovering a different neoplasm.
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PMID:Paraneoplastic and oncologic profiles of patients seropositive for type 1 antineuronal nuclear autoantibodies. 952 Dec 51

Both achalasia and Hirchsprung's disease arise from defects of innervation of the oesophagus and distal large bowel respectively. Their consequences are confined to disorders of motility in the relevant part of the gastrointestinal tract. Many neurogenic and primary muscle disorders are associated with abnormalities of gut motility. Stroke, even when unilateral, is commonly associated with dysphagia. Transcranial magnetoelectric stimulation has established that the pharyngeal phase of swallowing tends to receive its innervation principally from one hemisphere. In many neurological disorders, dysphagia is only one part of the clinical picture but in some--for example, the Chiari malformation--dysphagia may be the sole or major feature. Disturbances of small and large bowel motility, when seen in neurogenic disorders, are associated with autonomic neuropathy and are particularly common in diabetes mellitus. Primary muscle disorders can lead to dysphagia (for example, with polymyositis or oculopharyngeal dystrophy) or defects of large bowel motility (for example, with Duchenne's muscular dystrophy). Primary gut disorders particularly associated with neurological disease include pernicious anaemia, nicotinamide and thiamine deficiencies, selective vitamin E deficiency, and coeliac disease. Inflammatory bowel disease is associated with thromboembolic complications which may include the CNS, inflammatory muscle disease, and abnormalities on MRI of the brain of uncertain relevance. Whipple's disease is a rare condition which sometimes is largely or entirely confined to the CNS. In such cases, a particular neurological presentation can indicate the diagnosis.
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PMID:Neurology and the gastrointestinal system. 1040 May 14

Balloon distension is a commonly used technique in visceral organs. Research studies take advantage of this technique for studying organ physiology, e.g. for studying the force-deformation relationship and mechanosensitive receptors in the gastrointestinal wall. Balloon distension is also used for diagnostic purposes, e.g. in the diagnostics of non-cardiac chest pain and for treatment of diseases such as bleeding esophageal varices caused by liver disease and lower esophageal sphincter occlusion caused by achalasia. Balloon distension can be carried out with concomitant measurements of pressure, volume and cross-sectional area alone or in combination. Furthermore, balloon-distension techniques can be combined with various imaging techniques such as B-mode ultrasonography and MRI to obtain three-dimensional geometric data about the three-dimensional surface with subsequent calculation of the tension or stress in the gastrointestinal organs. This article describes balloon-distension techniques, in particular new developments of the impedance planimetric technique including methods for studying gastrointestinal muscle function.
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PMID:Balloon-distension studies in the gastrointestinal tract: current role. 1684 56

Esophageal disease is common. Fluoroscopy with or without fast cine-sequences is able to depict swallowing dynamics precisely and therefore is used in cases with swallowing disturbance, achalasia or diverticula etc. It is performed in addition to primary endoscopy. There is no evidence based indication for MRI in these settings as it is not to rule out post-surgical fistula and incompetence. Endoscopy and endosonography are gold standard for the depiction as well as staging of esophageal tumors hence differentiation of the esophageal wall layers and detection of suspicious lymph nodes is possible. And from both, biopsies may be taken. New techniques as OCT (optical coherence tomography) can demonstrate in situ carcinoma and therefore helps to decide for limited treatments as mucosectomy. For today multimodular treatment strategies in esophageal carcinoma the T-stage will lead to the treatment decision whereas the nodal-stage will give information about the prognosis. As a matter of fact endoscopy is unable to pass a stenosis esophageal tumor in up to 50% of the cases and will therefore not be able to give precise information on both T- and N-stage resulting in a good indication for MRI. Fetal MRI of the chest is a new topic in which MRI seems to be superior to ultrasonography.
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PMID:[MRI of esophagus. N staging and more...]. 1725 15

A 38-year-old Caucasian woman, gravida 3 para 2, was admitted at 29 weeks of gestation because of vomiting, dysphagia for solids and liquids, and loss of weight. An enlargement of the anterior left neck region was noted on the palpation of the thyroid gland. An MRI of the neck showed a marked esophageal dilatation with the presence of food remnants along its length and the displacement of the trachea to the right. The findings of the upper gastrointestinal endoscopy and manometry were suggestive of esophageal achalasia. Conservative management with total parenteral nutrition (TPN) through a peripheral line proved to be successful. A healthy male baby was born by a cesarean section at 37 weeks. The patient underwent laparoscopic esophageal myotomy and fundoplication seven days postpartum.
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PMID:Esophageal Achalasia: An Uncommon Complication during Pregnancy Treated Conservatively. 2336 74

Candida albicans osteomyelitis is a rare disease that occurs in immunocompromised individuals, sometimes with a late diagnosis related to the mismatch between symptoms and candidemia. This case refers to a 36-year-old male patient with a history of oesophageal surgery for achalasia with multiple subsequent surgeries and hospitalisation in the intensive care unit for oesophageal fistula complication. Four months after discharge, the patient was admitted to the infectious diseases department with pain in the 10th-12th left ribs, swelling of the 4th-6th costal cartilage and decreased visual acuity. An MRI study showed thickening and diffuse enhancement, with no defined borders in the cartilage and ribs, compatible with infection. After performing a CT-guided bone biopsy, isolated C. albicans sensitive to antifungal agents was detected. The patient started therapy with liposomal amphotericin B and maintenance fluconazole for 6 months and showed clinical and radiological improvement within this time.
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PMID:Candida albicans osteomyelitis as a cause of chest pain and visual loss. 2647 77

Neuromyelitis optica spectrum disorder (NMOSD) is a rare neurological condition infrequently associated with dysphagia on initial presentation. We describe the case of a 54-year-old woman who presented multiple times to healthcare professionals with severe vomiting, followed by sudden profound dysphagia. Her diagnosis was elusive, initially attributed to achalasia cardia and subsequently to stroke. A dorsal medullary lesion was revealed on MRI of the brain, which involved and extended beyond the area postrema. The patient required percutaneous gastrostomy, and repeated aspiration pneumonia complicated her clinical course. After aquaporin-4 antibodies returned positive, a diagnosis of NMOSD was made and she improved with immunosuppression. We discuss the process of lesion localisation and aetiology determination, as well as the difficulties that this case presented. Our hope is that this report will facilitate earlier diagnosis in similar cases in the future.
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PMID:Neuromyelitis optica: an elusive cause of dysphagia. 3064 56