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)

The authors here present a rare case of systemic amyloidosis with multiple myeloma. The patient was a 55-year-old man who presented with complaints of dysphagia and skin lesions. From clinical examination and endoscopic findings, gastric carcinoma was suspected and biopsy was taken from the gastric lesion. Histopathological examination of gastrointestinal biopsy revealed amyloid deposits. The patient also had multiple skin lesions, which also showed cutaneous amyloidosis. Owing to the presence of gastric amyloidosis, the patient was investigated further with serum electrophoresis and bone marrow biopsy, which revealed multiple myeloma.
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PMID:Amyloidosis masquerading as gastric carcinoma - A case report. 3203 Nov 39

The association between amyloidosis and collagen vascular diseases, such as rheumatoid arthritis (RA) is well-documented. Amyloid goiter is an extremely rare pathologic condition caused by a massive amyloid infiltration of the thyroid tissue. Our patient had been diagnosed with RA 20 years ago and was on hemodialysis for 7 years. He was assessed for decreased appetite, dysphagia, and nausea during the hemodialysis. On physical examination, the thyroid was diffusely enlarged with multiple nodules. He was biochemically euthyroid. Ultrasound of the thyroid gland showed multinodular goiter. A total thyroidectomy was performed. Histopathological examination showed dilated follicles surrounded by abundant homogeneous substance that stained positive with Congo red. The patient was reported as amyloid goiter. Complaints of the patient improved after the surgery. In the literature, amyloid goiter with RA in a hemodialysis patient is very rare. Amyloid goiter should be considered if there is a rapid thyromegaly causing pressure symptoms in the background of any disease with chronic inflammation.
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PMID:Amyloid Goiter in a Patient with Rheumatoid Arthritis and End-Stage Renal Disease. 3226 39

Hereditary transthyretin (TTR) amyloidosis is a multisystem disorder caused by extracellular amyloid deposition, usually presenting with neurological and cardiovascular involvement. Gastrointestinal involvement, if present, is usually in the form of motility symptoms like diarrhea, constipation, or diarrhea alternating with constipation. Presentations mimicking ulcerative colitis without other system involvement are rare. Here we present a case of a young female from northern India, who presented with blood-admixed diarrhea without any feature of any other system involvement. She was diagnosed and treated as ulcerative colitis for two years with ambivalent response, although the compliance to therapy was also poor. She was re-evaluated when she presented with recurrence of symptoms and new onset dysphagia. On evaluation, she was diagnosed as hereditary transthyrtetin related amyloidosis.
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PMID:An unusual case of hereditary transthyretin-related amyloidosis and ulcerative colitis in a young Indian girl. 3228 Jul 81

This is a case of a premature infant with stridor, supplemental oxygen requirement, and dysphagia refractory to anti-reflux and anti-inflammatory medications. Endoscopy revealed postcricoid fullness with MRI showing submucosal lobulations. Microscopic resection of an obstructive postcricoid mass resulted in immediate resolution of stridor and oxygen requirement with mild improvement in dysphagia. Pathology demonstrated submucosal fibrosis, edema, and vascularity with no evidence of malignancy, fibromatosis, or cystic/polypoid components. Review of the literature shows that lesions in postcricoid region include amyloidosis, lymphatic malformation, and normal-variant hypertrophy. Surgery should be considered for atypical postcricoid lesions with symptoms refractory to medical management.
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PMID:Benign postcricoid hypertrophy: Case report and review of the literature. 3284 31


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