Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is well known that Down's syndrome patients frequently suffer from immune system diseases leading to the production of autoantibodies and the onset of correlated pathologies. These disorders become increasingly frequent as the patients grow older and the onset of one autoimmune disease often predisposes the development of others. Autoimmune thyroiditis is the most frequent disorder and appears to affect 39% of adult patients. Over the past years a number of reports have been published regarding the coexistence of various autoimmune diseases in DS patients, but little is still known about the relationship between these pathologies and celiac disease. In order to contribute to knowledge regarding the prevalence of this association, the authors report a case of a DS patient who developed diabetes mellitus, hypothyroidism and celiac disease at different times. This case provides further confirmation of the association between Down's syndrome and autoimmune pathologies. The authors feel that follow-up programmes for DS patients should include an evaluation of thyroid function and antithyroid antibodies given that the onset of glandular hypofunction may be very subtle. Furthermore, they should also include tests to assay glycemia, anti-pancreatic insula and anti-insulin antibodies for diabetes and AGA and EMA for celiac disease.
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PMID:[Diabetes, hypothyroidism and celiac disease in Down's syndrome. A case report]. 955 94

Angiosarcoma of the thyroid is a rare and aggressive primary malignant tumor of the thyroid originally reported in patients from the Swiss Alpine region. Diagnosis of this tumor rests mainly on characteristic histopathological features of a malignant vascular tumor supported by immunopositivity for vascular markers e.g., CD31, Factor VIII, and CD34. Its cytological features, however, are not well-defined. We describe a case of primary angiosarcoma of the thyroid in a 48-year-old female, who presented with a rapidly enlarging neck mass associated with compressive symptoms. She had a history of hypothyroidism. The initial fine needle aspiration cytology of the neck mass was negative. She then underwent left hemithyroidectomy. Histologically, the tumor showed poorly differentiated malignant cells with eccentrically-placed nuclei, prominent nucleoli, and intracytoplasmic vacuoles admixed with mixed inflammatory cells. These showed immunopositivity for CD31 but were negative for CD34, Factor VIII, CK5/6, EMA, TTF-1, Thyroglobulin, Calcitonin, Melan A, and Calretinin. A diagnosis of poorly differentiated malignant tumor consistent with angiosarcoma was made. The patient was treated with radiation therapy but developed recurrence of the tumor. Second aspiration cytology of the recurrent tumor yielded hypocellular smears containing singularly dispersed atypical cells having eccentrically-placed nuclei with prominent macronucleoli and intracytoplasmic vacuoles within a background of inflammatory cells, consistent with recurrent angiosarcoma. Chemotherapy was started but she succumbed to the disease 7 months after diagnosis. The cytological, histopathological, immunohistochemical findings, and the clinical course are discussed.
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PMID:Primary angiosarcoma of the thyroid gland with recurrence diagnosed by fine needle aspiration: a case report. 1930 11

Background. Celiac disease (CD) is closely associated with other autoimmune endocrine disorders, particularly autoimmune thyroid disease. The aim of this study was to find the frequency of celiac disease in patients with hypothyroidism in Guilan province, north of Iran. Methods. A total of 454 consecutive patients with hypothyroidism underwent celiac serological tests antiGliadin antibodies (AGA), antitissue transglutaminase antibodies (IgA-tTG) and antiendomysial antibodies (EMA-IgA). Small intestinal biopsy was performed when any of celiac serological tests was positive. Results. Eleven (2.4%) patients were positive for celiac serology, and two patients with documented villous atrophy were diagnosed with classic CD (0.4%; 95%). Two patients with classic CD had Hashimoto's thyroiditis (HT) (0.6%; 95%). Six (54.5%) of 11 were suffering from overt hypothyroidism and 45.5% from subclinical hypothyroidism. Six (54.5%) had HT, and 45.5% had nonautoimmune hypothyroidism. Conclusions. In this study, prevalence of CD was lower than other studies. Most of the patients with CD were suffering from HT, but there was no significant statistical relation between CD and HT.
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PMID:Frequency of celiac disease in patients with hypothyroidism. 2254 23