Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The gastrointestinal complications of diabetes mellitus are the outward forms of the diabetic visceral neuropathy. The diabetic damage of the vagus nerve leads to disturbances of the tonus and the motility resembling to postvagotomy like conditions in the following clinical forms: diabetic dysphagia, diabetic gastroparesis, diabetic diarrhoea, diabetic megacolon, diabetic cholecystomegaly. These are in general late complications of labile diabetes. The mild abdominal symptoms are not in proportion to the severe radiological changes, proper diagnosis may be obtained only by means of roentgenological examinations in most cases.
 ...
PMID:[Gastrointestinal complications of diabetes mellitus]. 117 96

Multiple endocrine neoplasia type 2b is a rare inherited syndrome which comprises the association of medullary thyroid carcinoma, phaeochromocytoma, widespread neuromatous proliferation and a characteristic body habitus. In this report we present the late clinical course and autopsy findings of the first patient with this syndrome described in Australia. At presentation she was found to have a right adrenal phaeochromocytoma and medullary thyroid carcinoma which were resected in separate operations. No clinical or biochemical evidence of residual medullary thyroid carcinoma was identified in life. However, in spite of serial vanillylmandelic acid estimations, which showed normal or only mildly elevated levels, and normal results of urinary catecholamine studies, a left adrenal phaeochromocytoma was identified in a metaiodobenzylguanidine (MIBG) study performed 14 years after presentation. Her late clinical course was dominated by progressive dysphagia, intestinal dysmotility and megacolon associated with unrelenting malnutrition. After her death due to an intracerebral haemorrhage, an autopsy confirmed the presence of a left adrenal phaeochromocytoma and revealed diffuse intestinal ganglioneuromatosis to be the cause of her intestinal dysmotility. No residual medullary thyroid carcinoma was found. This case emphasises the propensity for multiple endocrine tumours in these patients and highlights the potentially significant role of intestinal ganglioneuromatosis in the natural history of this condition.
 ...
PMID:Multiple endocrine neoplasia type 2b: long-term follow-up of a case. 197 24

We studied digestive manifestations occurring during follow-up of 19 cases of myotonic dystrophy. GI symptoms occurred in 10 patients (53%), mainly dysphagia (n = 7). In patients undergoing investigations (n = 7), their digestive troubles were probably or definitively related to the neurological disease in 6 cases. Upper GI endoscopy was normal in 5 dysphagic patients. The oesophageal manometry was abnormal in 3 of 4 patients. Complications developed in 3 cases (16%). One patient presented two episodes of spontaneous pneumoperitoneum. A second one developed a chronic colonic pseudo-obstruction with megacolon treated by subtotal colectomy. Manometric studies revealed oesophageal aperistalsis, low amplitude of gastro-jejunal contractions but persistence of migrating motor complexes and a normal recto-anal reflex. A third patient developed an acute pseudo-obstruction with ischemic colitis. In conclusion, myotonic dystrophy frequently disturbs digestive tract motility and may cause complications such as intestinal pseudo-obstruction.
 ...
PMID:[Digestive system manifestations in Steinert's disease. Analysis of 19 cases of which 10 with digestive symptoms]. 236 73

A case of achalasia coexistent with sigmoid megacolon in a 38-year-old man with known epilepsy is described. The patient was referred to the Ryukyu University Hospital with a 4-year history of dysphagia and heartburn and a 1-year history of abnormal bowel movement. On admission, upper gastrointestinal (GI) series demonstrated a dilated, tortuous thoracic esophagus with a flask-type configuration. Barium enema studies showed a dilated sigmoid colon from the rectosigmoid junction to the descending colon. Myotomy (modified Jekler-Lhotka's procedure) for achalasia and simple sigmoidectomy for sigmoid megacolon were carried out. The biopsied wall of the narrowed esophageal segment at operation showed decreased numbers of ganglion cells in Auerbach's plexus and atrophy of the muscle fibers. The resected dilated sigmoid colon revealed degeneration and markedly decreased numbers of ganglion cells in Auerbach's and Meissner's plexuses. The patient's postoperative course was uneventful and he has been doing well since surgery. The present case is very interesting and to our knowledge, such a case is rare in the literature. We believe that the abnormalities of the ganglion cells may be due to the same etiologic factor as the sigmoid megacolon. The association of the two pathologic processes is discussed, together with a brief review of the literature.
 ...
PMID:A rare case of achalasia coexistent with sigmoid megacolon and associated with epilepsy. 800 May 13

In the present study an attempt was made to analyse from a clinical viewpoint the descriptions in the book "Noticias do que he o achaque do bicho" by Miguel Dias Pimenta (1661-1715), which are considered by some authors to be the first reference to the chagasic megaesophagus and megacolon that appeared in history. In descriptions considered to refer megaesophagus, although dysphagia, the major symptom of this disease, is not recognized, typical manifestations of a irritating, inflammatory or ulcerative condition are identified, not affecting the esophagus but the stomach. In the description considered to refer to megacolon, the signs and symptoms suggest the diagnostic possibility of hemorrhoids and of the "achaque do bicho" itself, and do not recall the clinical picture of the chagasic megacolon in an absolute manner. On this basis, there is no reason to maintain the book "Noticias do que he o achaque do bicho" within the history of the digestive form of Chagas' disease.
 ...
PMID:[Miguel Dias Pimenta (1661-1715) and the history of chagasic megaesophagus and megacolon]. 920 22

We report a rare case of achalasia coexistent with megacolon. The patient, a 25-year-old woman, presented at our hospital with a history of abdominal pain with distension, and was finally operated on for a megacolon. Five months later she presented symptoms of progressive dysphagia and heartburn. Oesophageal manometry of the upper and lower oesophageal sphincter and X-ray studies showed images compatible with achalasia. Oesophagomyotomy of the oesophagogastric junction (Heller procedure with Dor haemifundoplication technique) was performed. In the specimens taken for biopsy, neither pathology of the myenteric plexuses, nor atrophy of the muscle fibres was evident. Chagas' disease serological diagnosis for Trypanosoma cruzii, neurological disease, diabetes and all the pathological events related with neuromuscular disorders of the gastrointestinal tract proved negative. We believe that the pathological findings are related to a dysfunction of the physiological mediators of the upper and lower digestive tract motility. The present case is extraordinary and, to our knowledge, extremely rare. The association of the two pathological diseases is questionable, and the literature is reviewed.
 ...
PMID:Idiopathic megacolon associated with oesophageal achalasia. 958 91

Megaesophagus is one of the manifestations of Chagas disease and surgical treatment is the approach that presents the best results. In this retrospective study, the epidemiological profile of patients operated in the Clinical Hospital of University of Campinas between 1989 and 2005 was evaluated with regard to: place of birth, place of residence, probable place of infection, age, degree of megaesophagus, etiology, duration and evolution of dysphagia, other diseases in association and the type of surgery chosen. The method used was to analyze the 390 medical files of these patients, at the hospitals medical archive service. The results made it possible to establish the endemic regions, place of birth and place of residence of the patients with Chagas disease attended at our clinic, and to characterize the group. After detailed analysis, it was found that the mean age was 47 years and the mean duration of dysphagia was 9.47 years. It was observed that: a) in 84.4% of the patients, dysphagia took hold progressively; b) 306 (78.5%) patients presented Chagas disease etiology; c) grade 2 was prevalent in 48%; d) 89.8% of the patients underwent cardiomyotomy; and e) there were frequent associations with gastritis, esophagitis, megacolon, arterial hypertension and cardiopathy.
 ...
PMID:[Surgically treated megaesophagus: epidemiological profile of patients operated in the Clinical Hospital of the State University of Campinas between 1989 and 2005]. 1854 41

Thyroid disease is common, and its effects on the gastrointestinal system are protean, affecting most hollow organs. Hashimoto disease, the most common cause of hypothyroidism, may be associated with an esophageal motility disorder presenting as dysphagia or heartburn. Dyspepsia, nausea, or vomiting may be due to delayed gastric emptying. Abdominal discomfort, flatulence, and bloating occur in those with bacterial overgrowth and improve with antibiotics. Reduced acid production may be due to autoimmune gastritis or low gastrin levels. Constipation may result from diminished motility, leading to an ileus, megacolon, or rarely pseudoobstruction. Ascites in myxedema is characterized by a high protein concentration. Graves' disease accounts for 60% to 80% of thyrotoxicosis. Hyperthyroidism is accompanied by normal gastric emptying with low acid production, partly due to an autoimmune gastritis with hypergastrinemia. Transit time from mouth to cecum is accelerated, resulting in diarrhea. Steatorrhea is due to hyperphagia and stimulation of the adrenergic system. Diarrhea in medullary carcinoma of the thyroid (MCT) may be due to elevated calcitonin, prostaglandins, or 5-hydroxyindoleacetic acid. Ileal or colonic function may be abnormal. The esophagus may be compressed by benign processes, but more often by malignancies. MRI and CT scans are the best diagnostic modalities. The gastrointestinal manifestations of thyroid disease are generally due to reduced motility in hypothyroidism, increased motility in hyperthyroidism, autoimmune gastritis, or esophageal compression by a thyroid process. Symptoms usually resolve with treatment of the thyroid disease.
 ...
PMID:The thyroid and the gut. 2035 69

The esophageal tuberculosis is the rarest form of this infection in the gastrointestinal tract, corresponding to 0.15% of the cases. This pathology is unusual even in countries with high prevalence of tuberculosis. Its clinical presentation could be easily confused with the one of esophageal carcinoma. The diagnosis is reached by demonstrating in a sample of the mucosa the presence of caseating granulomas or by finding the Mycobacterium tuberculosis in a sample of tissue. In the present case report 73-year-old male with dysphagia, weight loss and fever is presented. At the endoscopy an ulcerated lesion of 5 centimeters in the lower third of the esophagus that compromises 50% of the circumference is observed. In the chest x-ray there are bilateral lung infiltrates confirmed by the CT scan. A baciloscopy is done and the result is positive. At the histological analysis giant cells are found and there is evidence of tuberculous bacillus. The patient develops an intestinal obstruction secondary to chagasic megacolon. He presents a massive hemoptisis and die. The aim of this presentation is to comment a pathology rarely reported in the literature and enhance the importance of considering it according to the clinical context.
 ...
PMID:[Esophageal tuberculosis: case report and review of the literature]. 2153 68

Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families.
 ...
PMID:Gastrointestinal disorders in Down syndrome. 3118 86


1