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)

A family with multiple gastrointestinal stromal tumors (GISTs), a new type of germline mutation of KIT gene, and dysphagia is reported. The mutation was observed at Asp-820 in tyrosine kinase (TK) II domain. Mutations in TK II domain have been found in mast cell and germ cell tumors but not in GISTs, and the present family members are the first reported cases of GISTs with TK II domain mutations, including sporadic GISTs. Because interleukin 3-dependent Ba/F3 murine lymphoid cells transfected with the mutant KIT complementary DNA grew autonomously without any growth factors and formed tumors in nude mice, the mutation was considered to be gain-of-function type. Family members with the germline KIT mutation reported dysphagia, but those without the mutation did not. The mechanism of dysphagia was examined with gastrointestinal fiberscopy, endoscopic ultrasonography, and esophageal manometry. No mechanical obstruction was found, and the esophagus was not remarkably dilated. In the family members with dysphagia, endoscopic ultrasonography at the esophagocardiac junction showed a thickened hyperechoic layer between the circular and longitudinal muscle layers, suggesting hyperplasia of interstitial cells of Cajal at the myenteric plexus layer. Manometry showed low resting lower esophageal sphincter pressure and abnormal simultaneous contractions of the esophagus without normal peristalsis. These findings indicate that the dysphagia of the present family is different from typical achalasia. This is the first report of familial dysphagia caused by germline gain-of-function mutation of the KIT gene at the TK II domain.
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PMID:Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. 1198 33

An uncommon manifestation of plasma cell neoplasia occurs outside the bone marrow and is designated "extramedullary plasmacytoma." These are usually encountered in mucosal sites of the head and neck region. The gastrointestinal tract may be secondarily involved in multiple myeloma or be the site of primary extramedullary plasmacytomas (PEMPs). The esophagus is the least common site of gastrointestinal PEMP. A 58-year-old man presented with dysphagia for solids over a period of 2 months. Otherwise, he was well and systemic examination did not reveal anything of note. After a nondiagnostic biopsy, the patient was subjected to esophago-gastrectomy. Gross examination of the esophagus revealed a large polypoid tumor. Histologically, it was composed of mature plasma cells, plasmablasts (some of which appeared anaplastic), and a minor admixture of lymphoid cells. Focally, the infiltrate permeated the squamous epithelium simulating lymphoepithelial lesions. The neoplastic cells were positive for epithelial membrane antigen, CD79a, IgG, and kappa, while the lymphoid cells were predominantly B cells. The patient did not have a monoclonal gammopathy. Skeletal x-rays and bone trephine examination were both normal. PEMP is biologically and prognostically different to other plasma cell neoplasms. Although rare, esophageal PEMP should be considered in the differential diagnosis of so-called undifferentiated malignant tumors of the esophagus.
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PMID:Primary extramedullary plasmacytoma of the esophagus. 1280 70

The lymphoid follicles at the base of the tongue can be detected when examining the pharynx of adults, but the presence of large follicles, denoted "severe" hypertrophy of the base of the tongue (HBT) is rare. The objective of the present study was to identify severe HBT cases and their symptoms and to correlate them with the presence of pharyngolaryngeal signs and esophageal symptoms of gastroesophageal reflux (GER) in patients seen at a laryngology clinic. Severe HBT was considered to be present when the follicles prevented the view of the epiglottis or were massively distributed through the pharynx and larynx. Five cases of severe HBT were detected among 306 patients submitted to videolaryngoscopy over a period of 2 years, corresponding to 1.6% (5/306) of the total sample studied. However, this index markedly increases to 4% (4/101) among patients with pharyngolaryngeal signs of GER and reached 7.5% (4/53) among patients presenting GER symptoms such as heartburn, regurgitation, retrosternal burning feeling, and dysphagia. The complaints due to severe HBT were noisy respiration, hoarseness, throat clearing, dry cough, globus pharyngeus, and nasal voice. We conclude that the frequency of hypertrophied follicles is increased in the presence of signs and symptoms of GER and those HBT symptoms are confused with those of GER, except for nasal voice and noisy respiration.
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PMID:Severe hypertrophy of the base of the tongue in adults. 1546 3

This was a prospective study performed in a Department of Veterans Affairs Medical Center. The aim of this study was to use endoscopic and histological examinations to determine the potential diagnostic origins of chronic gastrointestinal symptoms among patients who were part of the deployment of troops to the Persian Gulf after August 1990. Twenty-four (8%) male patients (mean age, 42 years) of 308 patients in the Persian Gulf War Registry agreed to undergo endoscopic examination of chronic symptoms, including heartburn (29%), dyspepsia (33%), dysphagia (8%), diarrhea (63%), Hemoccult-positive stool (21%), and rectal bleeding (17%). There were 17 upper endoscopies, 18 colonoscopies, and 4 flexible sigmoidoscopies performed, all with biopsies. Five (33%) of 15 patients had positive serological findings for Helicobacter pylori. With upper endoscopy, major findings included esophagitis (12%), Schatzki's ring (12%), hiatal hernia (47%), antral erythema (59%), and duodenal erythema (29%). With lower endoscopy, major findings included ileitis (5%), lymphoid hyperplasia (9%), polyps (27%), diverticulosis (23%), and hemorrhoids (23%). Major histopathological findings included microscopic esophagitis (24%), gastritis with H. pylori (35%), gastritis without H. pylori (18%), Crohn's disease (5%), tubular adenoma (5%), hyperplastic polyps (18%), and melanosis coli (5%). Most patients with chronic heartburn or dyspepsia have evidence of esophagitis or H. pylori. Individuals with these chronic symptoms should undergo evaluation.
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PMID:Evaluation of chronic gastrointestinal symptoms following Persian Gulf War exposure. 1617 12

A 57-year-old male became aware of a subcutaneous tumor in March 2001. Histopathological examination showed peripheral T-cell lymphoma. He achieved complete remission after chemotherapy. Later the lymphoma relapsed in the subcutaneous lesion and chemotherapy was performed again. In April 2003, he developed diplopia, dysarthria, and dysphagia. Abnormal lymphoid cells were found in the cerebrospinal fluid. An immunophenotypical study disclosed that CD2, CD3, CD5, and CD8 were positive. Rearrangement of TCR was detected by Southern blotting. Cranial magnetic resonance imaging did not detect any intraparenchymal lesions, but thickening of multiple cranial nerves was detected. These nerves were homogeneously enhanced by gadolinium-DTPA. After intrathecal chemotherapy, atypical cells disappeared from the cerebrospinal fluid and thickening of the cranial nerves was resolved. Finally, lymphoma spread to the bone marrow, and the patient died in July 2003.
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PMID:Thickening of multiple cranial nerves in a patient with extranodal peripheral T-cell lymphoma. 1662 41

We report the case of a 68-year-old man affected by severe oropharyngeal dysphagia for solid food, who had undergone tonsillectomy when he was 22 years old. Videolaryngoscopy revealed a smooth-surfaced, elongated overgrowth on the left lateral pharyngeal wall that protruded toward the left pyriform fossa and impeded the transit of solid boli. A computed tomography scan showed that the solid content of the lesion was markedly inhomogeneous and denser than the surrounding soft tissues. The mass was removed by means of direct pharyngoscopy under general anesthesia. It was found that it arose from the inferior pole of the left tonsillar fossa and had a central cavity filled with caseum and multiple calculi. Histopathologic examination showed that its soft tissue component consisted of lymphoid tonsillar tissue. The operation totally resolved the swallowing disturbance. This case report highlights that tonsilloliths in a tonsillar residue should be considered in the differential diagnosis of mechanical oropharyngeal dysphagia, even in tonsillectomized patients.
Dysphagia 2006 Apr
PMID:An unusual cause of mechanical dysphagia: an agglomerate of calculi in a tonsillar residue. 1676 35

Tonsilloliths are rare concretions found in the tonsillar crypt. They are usually single and unilateral, but occasionally may be multiple or bilateral. This report describes a case of a 47-year-old woman whose radiography revealed one radiopaque image located in the right ramus of the mandible. The patient revealed a history of slight dysphagia, halitosis and swallowing pain with a foreign body sensation. Her medical history revealed a tonsillectomy when she was eight years old and the removal of the uvula because of sleep apnoea six years ago. Computer tomography showed a delimited and calcified oval image measuring 0.6 x 0.6 cm. The tonsillar concretion might have been formed because of a calcification of the lymphoid tissue. On the patient's request, surgical excision was not performed and she will be monitored due to the tendency of such lesions to grow.
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PMID:Tonsillolith--report of an unusual case. 1735 86

Tonsillar lymphoid polyps are uncommon lesions that have rarely been studied. The authors describe the clinical, histopathologic, and immunohistochemical features of 6 tonsillar polyps in which lymphoid tissue represented more than 80% of the lesion. Presenting symptoms were tonsillar mass and/or dysphagia. No predisposing factor was detected. Microscopically, all polyps contained follicles with germinal centers, crypts lined by lymphoepithelium, and a small amount of fibrous tissue in the center of the lesion. B cells (CD20+), T cells (CD45RO+), plasma cells (kappa+ and lambda+) and vessels (lymphatic, D2-40+; blood, CD34+) presented distribution and architectural patterns as expected for lymphoid tissue of a palatine tonsil. Tonsillar lymphoid polyps are possibly hamartomas characterized by overgrowth of lymphoid elements, which maintain an architectural pattern and cellular composition similar to those of the palatine tonsil.
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PMID:Lymphoid polyps of the palatine tonsil. 1747 69

Plasmablastic lymphoma (PBL) is a rare form of diffuse large B-cell lymphoma characterized by weak/absent expression of conventional B-cell markers and strong expression of plasma cell markers. It is strongly associated with human immunodeficiency virus (HIV) and Epstein Barr virus infection, and shows an unusual tropism to the oral cavity. Herein we describe a patient with AIDS who presented with weight loss and dysphagia owing to a large gastroesophageal mass. His radiographic and endoscopic findings and long history of cigarette consumption suggested carcinoma. Biopsy demonstrated a poorly differentiated tumor stained negatively to routine lymphoid markers including CD20. However, gene rearrangement studies confirmed a B-cell process and a more detailed immunohistochemical analysis revealed the cells stained positively for CD138 (plasma cell antigen). These findings were diagnostic of PBL. Our report reviews the wide differential diagnosis of PBL and underscores the importance of a broad array of viral and molecular studies needed to establish this diagnosis.
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PMID:AIDS-associated plasmablastic lymphoma presenting as a poorly differentiated esophageal tumor: a diagnostic dilemma. 1866 32

Adenotonsillar disease (adenoiditis and recurrent tonsillitis) is a prevalent otolaryngologic disorder aetiologically based on chronic inflammation triggered by a persistent bacterial infection. These bacteria, mostly Staphylococcus aureus, Haemophilus sp., and Streptococcus sp., persist predominantly intracellular and within mucosal biofilms. The recurrent or chronic inflammation of the adenoids and faucial tonsils leads to chronic activation of the cell-mediated and humoral immune response, resulting in hypertrophy of the lymphoid tonsillar tissue. This hypertrophic tissue is the cause for the prominent clinical symptoms: obstruction of the upper airways, snoring, and sleep apnea for adenoiditis or sore throat, dysphagia and halitosis for recurrent tonsillitis. Treatment strategies should target the persisting bacteria within their biofilm or intracellular shelter. Macrolide antibiotics like clarithromycin are able to modulate the immune system and to interfere in bacterial signaling within biofilms. Clindamycin, quinupristin-dalfopristin, and oritavancin are intracellular high active compounds. Surgical removal of the hypertrophic tissue by modern procedures like laser tonsil ablation, eliminates not only a mechanical obstacle of the airways, it removes also the basis for the aetiologic cause, the "biofilm carrier". This review summarizes the role of bacterial persistence in mucosal biofilms for the aetiology, diagnosis and treatment of adenotonsillar disease and relevant patents.
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PMID:Adenotonsillar disease. 2245 46


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