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)

We report a 49 year old man who presented with left leg weakness, frontal headache, impaired concentration and dysphagia. He was thought to have a benign oesophageal stricture on barium swallow and oesophagoscopy though this was not initially biopsied. During admission his vision deteriorated so that he could only recognize bright light. Repeat oesophagoscopy demonstrated an oesophageal adenocarcinoma. The diagnosis of meningeal carcinomatosis was confirmed at post-mortem. Sudden bilateral blindness is a common feature of meningeal carcinomatosis but, as this is rare, it is not commonly considered in the differential diagnosis of visual loss. The visual loss can be explained by vascular insufficiency in association with tumour cuffing of the subarachnoid space of the optic nerve sheath, by neuronal toxins, or other, as yet unknown, mechanisms.
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PMID:Rapid onset of blindness due to meningeal carcinomatosis from an oesophageal adenocarcinoma. 175 2

Bullous pemphigoid (BP) and benign mucous membrane pemphigoid (BMMP) are autoimmune diseases characterised by subepithelial bulla formation and showing substantial overlap in clinical signs and symptoms. BP principally involves skin and BMMP the oral mucosa and eyes. The gingiva are affected in 90% of cases of BMMP and buccal mucosa and palate in up to 30%. Lesions may heal with scarring. Extension into the pharynx and esophagus causes sore throat and dysphagia. Severe ocular involvement may cause blindness. Bulla formation is attributed to complement activation, following IgG binding to the basement membrane zone, with subsequent polymorphonuclear leukocyte accumulation. The target antigen in BP is a 180-230 kD protein associated with the basilar membrane of basal keratinocytes. The gene encoding the BP antigen has been partially cloned. It is likely that the same antigen is involved in BMMP, but the mechanism of scarring is not understood. Treatment of BP and BMMP includes systemic steroid and azathioprine therapy and topical steroids.
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PMID:Vesiculo-bullous mucocutaneous disease: benign mucous membrane and bullous pemphigoid. 217 35

We prospectively evaluated the diagnostic value of blind brushing of the esophagus via nasogastric tube in 66 patients with human immunodeficiency virus (HIV) infection [acquired immune deficiency syndrome (AIDS) (N = 59), or AIDS-related complex (ARC), (N = 7)] complaining of odynophagia and/or dysphagia. Brushings were obtained between 20 and 35 cm from the incisors. Patients then underwent upper endoscopy with directed brushings and biopsies; esophageal lavage was also done in the first 40 patients. Candida esophagitis was defined as an abnormal appearance of the esophageal mucosa, together with microscopic evidence of pseudohyphae in the endoscopic brushings or invasive candidiasis on biopsy. The presence of oral thrush was also recorded. Candida esophagitis was present in 28 (42%) of the 66 patients. Blind brushings diagnosed candidiasis in 27/28 cases and produced five false positives (sensitivity 96%, specificity 87%). Blind brushing of the esophagus was significantly more sensitive than the presence of oral thrush for the diagnosis of esophageal candidiasis (p = 0.02). Oral thrush was found in only 20/28 cases of Candida esophagitis and in eight patients without Candida (sensitivity 71%, specificity 79%). Esophageal lavage yielded Candida in all cases (sensitivity 100%) but had a poor specificity (64%). We conclude that blind brushing of the esophagus is a rapid, safe, and economical way to diagnose Candida esophagitis in patients with AIDS. This procedure can be performed by primary care physicians with minimal loss of sensitivity and specificity as compared to endoscopy.
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PMID:Prospective evaluation of blind brushing of the esophagus for Candida esophagitis in patients with human immunodeficiency virus infection. 232 79

Clinical signs in dogs with pseudorabies (Aujeszky's disease) were tabulated from 25 confirmed cases. The duration of disease was short, ranging from 6 to 96 hours. Eight dogs were euthanatized. Of those not euthanatized, 12 (71%) died within 24 hours of onset, 16 (94%) died within 48 hours, and only 1 (6%) lived longer than 48 hours (96 hours) after the onset of clinical signs. All of the dogs had ptyalism, 84% were restless, 84% were anorectic, 76% were atactic, and 64% wandered aimlessly. Sixty-four percent of the dogs had tachypnea, 60% had dyspnea, 56% vocalized, 52% were pruritic, 48% held their necks rigidly, 36% vomited, 36% had muscle spasms, 36% were aggressive, 28% had trismus, and 24% had dysphagia. Five of 25 dogs (20%) had abnormal pupillary light responses. Two of the 25 dogs circled and 2 walked backwards. Each of the following were detected once: blindness, ptosis, facial paresis, excessive lacrimation, head-tilt, head-pressing, signs of abdominal pain, and photophobia. All dogs had been exposed to swine, although in some instances the farmer was unaware pseudorabies existed in the herd or believed it was not in the herd on the basis of negative results on serologic testing.
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PMID:Clinical signs associated with pseudorabies in dogs. 277 5

We report a 7-year-old male with ampicillin-induced Stevens-Johnson syndrome with subsequent extensive skin, conjunctival, oropharyngeal, and laryngeal involvement. Over the next 5 months, he developed complete blindness and dysphagia. A barium swallow revealed absence of both right and left pyriform sinus, and a stricture involving the entire esophagus. Retrograde dilatations, complicated by malignant hyperthermia, have subsequently allowed for the difficult progression from an eight to a 40 French bougie. Eighteen months since the diagnosis of esophageal stricture, he has a normal appearing esophagus and is swallowing without difficulty.
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PMID:Esophageal stricture secondary to Stevens-Johnson syndrome. 343 Mar 22

Disabling esophageal symptoms ((dysphagia, painful swallowing, and severe restrosternal pain) developed in 8 of 63 patients with chronic graft-versus-host disease after allogeneic bone marrow transplantation. At endoscopy 7 patients had characteristic desquamation of the upper esophagus; 2 of these also had distal esophagitis; and 3 had distinctive upper esophageal webs. No infectious pathogens were detected in esophageal biopsies or brushings. Abnormalities of esophageal motility were seen in 5 of 7 patients studied including 3 with aperistalsis. Retrosternal pain in 3 patients resulted from acid reflux. Esophageal histology from 5 autopsied patients showed no muscle or neuronal abnormalities by silver stain or conventional light microscopy. There was increased submucosal fibrosis associated with mucosal esophagitis and ulceration. Blind microscopic review of histology clearly distinguished the esophagus of chronic graft-versus-host disease from that of progressive systemic sclerosis. We conclude that esophageal epithelium, like skin and mucous membranes, is a target organ in chronic graft-versus-host disease. This immunologic disease results in desquamative esophagitis with web formation. Peptic esophagitis, a cause of severe pain and perhaps distal esophageal strictures in these patients, may be related to poor acid clearing from the esophagus. Diagnostic endoscopy and disruption of webs should be performed carefully to avoid perforation. Treatment should be directed toward suppressing the underlying immunologic disorder and at preventing acid-peptic reflux.
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PMID:Esophageal abnormalities in chronic graft-versus-host disease in humans. 700 15

Data obtained from observing the residents of three long-term care facilities showed that the majority required some assistance in feeding. The facilities differed in the percentage of residents needing help and in the physical and attitudinal support given for self-feeding. Regardless of level of independence in feeding, most residents received adequate food intake. Physical problems, which posed a greater handicap to self-feeding than mental problems, were of four types: improper positioning, dysphagia, upper extremity dysfunctions, and blindness.
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PMID:An assessment of the feeding behaviors of the institutionalized elderly. 710 81

Congenital abnormalities of the aortic arch may lead to signs and symptoms of tracheal and esophageal obstruction secondary to a restrictive vascular ring. There are many case reports and monographs concerning the surgical management of dysphagia lusoria. This case provides the first example of long-term follow-up of surgical intervention for relief of dysphagia lusoria. A 45-year-old laborer presented with a several year history of episodic bilateral blindness and a more recent onset of "drop attacks." Notably this patient had presented at the age of 18 months with difficulty breathing and eating since birth. The patient also had frequent upper respiratory infections and episodes of pneumonia. Workup revealed a right-sided aortic arch with a left ligamentum arteriosum. When he was first seen in our clinic, history and physical examination revealed claudication and diminished pulses in the left upper extremity. Arteriography and duplex studies confirmed reversal of flow in the patient's left vertebral artery. The arteriogram demonstrated the presence of a right-sided aortic arch and descending aorta along with the proximal stump of the previously ligated left subclavian artery. He underwent left carotid to left axillary artery bypass for the treatment of symptomatic subclavian steal syndrome. His symptoms have resolved with return of antegrade vertebral flow and the presence of normal pulses in the left arm. Congenital aortic abnormalities that lead to tracheal and esophageal compromise are numerous and varied. Surgical management requires a thorough understanding of the person's anatomy and preoperative planning. The life expectancy of patients with dysphagia lusoria necessitates consideration of the long-term consequences of surgical intervention.
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PMID:Symptomatic subclavian steal syndrome four decades after operation for dysphagia lusoria. 778 7

In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. More recently, it was shown that this original DFN-1 family represented a new type of recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. This new disorder, termed Mohr-Tranebjaerg syndrome (referred to here as DFN-1/MTS) was mapped to the Xq21.3-Xq22 region2. Using positional information from a patient with a 21-kb deletion in chromosome Xq22 and sensorineural deafness along with dystonia, we characterized a novel transcript lying within the deletion as a candidate for this complex syndrome. We now report small deletions in this candidate gene in the original DFN-1/MTS family, and in a family with deafness, dystonia and mental deficiency but not blindness. This gene, named DDP (deafness/ dystonia peptide), shows high levels of expression in fetal and adult brain. The DDP protein demonstrates striking similarity to a predicted Schizosaccharomyces pombe protein of no known function. Thus, is it likely that the DDP gene encodes an evolutionarily conserved novel polypeptide necessary for normal human neurological development.
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PMID:A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 884 Nov 89

Cicatricial pemphigoid (CP) is a chronic subepidermal bullous dermatosis which primarily involves the mucous membranes. The oral cavity and the eye are most frequently involved. Since extension of the lesion into the pharynx and esophagus causes sore throat and dysphagia and progressive ocular lesions may cause blindness, early and valid diagnosis is very important. Here we present a case of cicatricial pemphigoid with onset at age 45 in a patient who manifested severe periodontal disease and showed the lesion on the mucous membranes of the mouth (desquamative gingivitis), skin, and eyes. Since definite diagnosis is very important, we describe how we made a differential diagnosis from other diseases which also accompany desquamative gingivitis. We examined the clinical manifestations, blood test results, HLA-genotype, histopathologic findings of the affected tissue, and immunological findings in relation to autoimmunity. Since many of the CP cases are first referred to periodontists or dentists, we believe that the diagnostic strategy described in the present study will be quite informative for making rapid and definite diagnoses of similar cases.
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PMID:Immunopathological diagnosis of cicatricial pemphigoid with desquamative gingivitis. A case report. 1128 99


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