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

Diseases of the skin and the gastrointestinal tract may occur together. It is important to examine the skin of everyone showing a gastrointestinal problem. Gastrointestinal signs and symptoms in dermatologic diseases may occur with dysphagia, abdominal pain, gastrointestinal bleeding and diarrhea with or without malabsorption. In general the cause is found in a genetic disorder, or it is infectious, drug-induced, inflammatory or related to a malignant disorder. Polyposis are hamartomatous tumors or result as an inflammatory reaction. All these syndromes may present with cutaneous lesions. As malignant degeneration of polyps often develops, the early diagnosis and preventive treatment is crucial. Inflammatory bowel disease is often associated with skin complications such as pyoderma gangrenosum and erythema nodosum. Malignant disorders in the gut may metastasize into the skin or may produce rather typical paraneoplastic changes.
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PMID:[Skin symptoms in gastrointestinal diseases]. 775 66

Functional disorders mainly occur in young, anxious hyperactive, sometimes obsessional patients and involve all parts of digestive tract: feeling of obstruction the upper oesophagus or dysphagia; aerophagia related to a slow gastric emptying or gastric fullness relieved by eructation; biliary vomiting and pain in right abdominal upper quadrant which might correspond to a form of migraine without headache; irritable bowel, characterized by abdominal discomfort and constipation. Obviously, the diagnosis of functional disorders required elimination of an organic disease by appropriate endoscopic investigations. Psychosomatic disorders mainly comprise gastroduodenal ulcers and inflammatory bowel diseases. Although psychologic profiles have been associated with gastro-duodenal ulcer, these are not necessary for the development of the disease. The role of emotional factors has decreased since very efficient anti-secretory drugs are available. Inflammatory bowel diseases, in particular ulcerative colitis is frequently associated to behaviour disorders. The patient is usually a young woman brought up by an overprotective family. It is generally recognized that attacks of ulcerative colitis may be triggered by emotional factors. Thus, Stress may interact with digestive tract. In some cases, as in patients with irritable bowel or distal ulcerative colitis, psychotherapy such as Schultz's Autogenous Training, improves the patient's condition.
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PMID:[Stress and the digestive system]. 828 96

To determine the current indications and referral patterns for routine gastrointestinal radiology examinations, 1000 consecutive patients were prospectively analyzed. The following specialties were the largest sources of referral: general internal medicine (38%), gastroenterology (21%), and general and colorectal surgery (17%). Referrals from gastroenterologists were weighted toward areas not well evaluated by endoscopy, such as suspected small bowel disease. The major indications for upper gastrointestinal (GI) examinations were dysphagia and swallowing disorders (32%), hiatus hernia/reflux (14%), and ulcer (14%). Small bowel series were predominantly performed for inflammatory bowel disease (37%), obstruction (25%), and occult blood loss (18%). The majority of combined upper GI/small bowel studies were performed for indications primarily relating to the small bowel. Forty percent of barium enemas were performed for detection of neoplasms and polyps, with pain/irritable colon (14%) and exclusion of leak (14%) the next most common indications. Traditional indications, such as peptic ulcer disease and neoplastic disease, continue to be sources of referral for gastrointestinal radiology. However, more specialized applications, particularly in areas not well suited to endoscopy, such as swallowing disorders, inflammatory disease of the small bowel, and evaluation of surgical anastomoses, are also being commonly used. The changing indications, along with the previously documented decreased volume of gastrointestinal radiologic procedures, should be kept in mind when planning a radiology resident educational curriculum.
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PMID:Gastrointestinal radiology: current indications and referral patterns. 843 86

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

Inflammatory bowel disease basically consists of two entities: ulcerative colitis (UC) and Crohn's disease (CD). Both processes are characterized by chronic inflammation of the intestine, which in the case of CD may affect the entire digestive tract. We present the case of a young man who was diagnosed with esophageal CD after presenting dysphagia and odynophagia. Intestinal involvement was subsequently found. Esophageal involvement is infrequent and as the first manifestation of CD it is extremely rare. It should, however, be borne in mind in patients with esophageal ulcerations without symptoms or endoscopic signs compatible with peptic etiology, even though other indications of inflammatory disease are absent.
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PMID:[Presentation of Crohn's disease with esophageal involvement]. 1172 21

We report a 9-year-old girl who experienced recurrent dysphagia since infancy. Crohn's disease was suspected because she had aphthous ulcers of the mouth and anal dermatitis with hematochezia. After bougienages of esophageal stenoses and medication for inflammatory bowel disease proved unsuccessful, interdisciplinary re-examination revealed the cause of the symptoms to be an extracutaneous form of dystrophic epidermolysis bullosa, a genetic skin fragility disorder. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with trauma-induced skin blistering, scarring, nail dystrophy, and, in some cases, mucosal involvement. The present proband never developed skin blisters but had nail dystrophy and erosions of the oral, esophageal, and genitoanal mucosa, which healed with slight scarring. Mutation analysis disclosed compound heterozygosity for recessive mutations in the COL7A1 gene. The paternal mutation 425 A-->G caused abnormal splicing resulting in a premature stop codon. The maternal mutation G2775S led to the substitution of a glycine by a serine in the triple helical domain of collagen VII. This case shows that mucosal disease and esophageal strictures in childhood are not always acquired, but can also represent a genetic defect of dermal-epidermal adhesion, even in the absence of skin blistering.
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PMID:Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations. 1178 Dec 96

Over the past years, a number of idiopathic, chronic, inflammatory gastrointestinal diseases have been recognized, which can be distinguished from Crohn's disease and ulcerative colitis. These entities are grouped under the term "variant forms" of IBD. In this review, three distinctive, variant-IBD entities--all of which with individual and uniform histories and characteristic, histological abnormalities, but unremarkable or even absent endoscopical features--are presented: 1. The adult form of primary eosinophilic esophagitis mainly affects male patients and leads to a history of acute and recurrent dysphagia with a typical on-off-phenomenon. 2. Patients with celiac disease often present a long history of anemia and complain of symptoms resembling irritable bowel syndrome. 3. The main symptom of microscopic colitis is watery diarrhea, sometimes associated with weight loss. Faced with one of these histories, it is necessary to insist, that during the endoscopic procedures--even in the absence of mucosal alterations--representative biopsy specimens are taken and histologically worked up with adequate stainings.
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PMID:[Inflammatory bowel disease: 3 mainly by histology detectable variant forms]. 1269 18

Neurological involvement associated with inflammatory bowel disease is well established though rarely reported in the literature. The coexistence of motor neurone disease with ulcerative colitis has never been previously documented. The case of a 53-year-old Indian male with distal ulcerative colitis who, two and a half years later, developed dysarthria, dysphagia, a wasted fasciculating tongue and palatal palsy characteristic of bulbar type motor neurone disease is described. Topical and oral steroids together with azathioprine and mesalazine suppositories controlled the bowel symptoms but did not improve the neurological deficit. Subsequently, the antiglutamate agent riluzole improved the mobility of his tongue. The close temporal relationship and relative infrequency of both these conditions in a Malaysian population along with the recognised association between ulcerative colitis and other neurological conditions deserve careful consideration as to whether a common denominator is involved. Documentation of coexistence of both disorders in a single patient is important in case similar associations are reported in future.
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PMID:Ulcerative colitis and motor neurone disease: causal or coincidental? 1470 Apr 23

Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.
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PMID:Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? 1843 26

The 12th Update in Gastroenterology and Hepatology for the Primary Care Practitioner is an annual course organized by the Division of Gastroenterology and Hepatology at the University of California, Davis, and held in beautiful Monterey, California. The course was geared towards primary care physicians, nurse practitioners and other allied health professionals. The goals of this symposium were to provide current information regarding the diagnosis and management of digestive diseases commonly seen in the primary care setting and to provide practical guidelines for disease management. Topics covered during this symposium included viral hepatitis, alcoholic liver disease, hepatocellular carcinoma, dysphagia, gastroesophageal reflux disease, chronic diarrhea, inflammatory bowel disease, irritable bowel syndrome, dyspepsia, gastroparesis and bariatric surgery. The course was organized into two sessions each morning, over 2 days, with three or four 30-min lectures. A brief question-and-answer session followed each lecture.
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PMID:12th Update in Gastroenterology and Hepatology for the Primary Care Practitioner. 1907 40


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