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 hybrid gene comprising the bovine thyroglobulin gene promoter and the coding region for the simian virus-40 large T- and small t-antigens was used to generate 30 transgenic mice by microinjection into the pronuclei of single cell embryos. All animals except three developed, as single primitive pathology, a dramatic enlargement of the thyroid gland. Compression of trachea and esophagus, accompanied by dyspnea, inspiratory stridor, and dysphagia, led to a progressive cachexia and premature death attributed to respiratory failure. Despite the large thyroid volume, T4 levels were abnormally low, and the progression of the syndrome could be delayed by a substitutive treatment with thyroid hormones. The rapid evolution of the disease, leading to the death of most founder transgenic animals before the breeding age, prevented transmission of the transgene to their offspring. Only two transgenic lines are presently surviving. Immunohistochemical analysis of the tissues revealed a specific expression of the simian virus-40 antigens in the thyroid cells. Hyperplasia was already obvious at birth. Older animals displayed moderately to poorly differentiated thyroid adenocarcinomas. Electron microscopy revealed, however, the persistence of cell polarity and the presence of microfollicles between the densely packed cells. Cell lines derived from these large T-expressing thyroids were shown to have lost expression of both thyroglobulin and thyroperoxidase, while expressing low levels of TSH receptors. These transgenic mice could constitute an interesting model of aggressive adenocarcinoma, sharing phenotypical similarities with the anaplastic type of human thyroid tumors.
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PMID:Thyroid adenocarcinomas secondary to tissue-specific expression of simian virus-40 large T-antigen in transgenic mice. 171 32

The authors report the clinicopathologic features of 14 cases of amyloid goiter (AG). Eleven patients were males and three females with ages ranging from 23 to 75 years (median, 54 years). Eight patients had secondary amyloidosis and six had primary amyloidosis. Nine cases were identified at autopsy. In symptomatic patients (n = 5), the clinical presentation included a nontender, rapidly enlarging neck mass with associated dysphagia, dyspnea or hoarseness. Clinical or laboratory evaluation failed to detect evidence of thyroid dysfunction. The histologic appearance of the thyroid predominantly consisted of diffuse amyloid deposition surrounding thyroid follicles. In two cases, a nodular pattern of amyloid deposition was seen resulting in compression and distortion of the follicular architecture. Areas of mature adipose tissue and focal lymphocytic thyroiditis with or without foreign-body type-giant cells were seen in approximately one third of the cases. Confirmation of amyloid was made by the presence of congophilia and apple-green birefringence under polarized-light microscopy. Immunohistochemical evaluation demonstrated the presence of amyloid A immunoreactivity. No Immunoreactivity was seen with calcitonin or thyroglobulin. Fine-needle aspiration may facilitate the diagnosis, as occurred in one the patients. In symptomatic patients, thyroidectomy is warranted to alleviate pressure symptoms.
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PMID:Amyloid goiter. A clinicopathologic study of 14 cases and review of the literature. 767 20

Although metastases to the thyroid are never uncommon at autopsy in patients who died of malignancy, metastatic thyroid carcinomas are rarely detected in clinical practice in most cases and cases of secondary thyroid cancer which require thyroid surgery clinically are few. A clinical case of thyroid metastasis from renal cell carcinoma with thyroidectomy is described herein. An 87-year-old Japanese woman was referred to us for a slow-growing palpable neck tumor with dysphagia. She had undergone a nephrectomy for renal clear cell carcinoma 19 years earlier at another hospital. Preoperative imaging examinations suspected an adenomatous goiter and a fine needle aspiration (FNA) cytology was suggestive of an atypical follicular tumor. Hemithyroidectomy was performed as a follicular tumor of thyroid for restriction of subjective symptom. A pathological examination of the thyroid tumor revealed clear cell carcinoma, postoperatively. The negative result of immunohistochemical staining for thyroglobulin also suggested metastatic renal cell carcinoma to the thyroid. Clinically significant metastases to the thyroid gland are relatively infrequent. However, if patient who bears a thyroid tumor has a history of malignancy, the possibility of metastatic disease should be taken under consideration.
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PMID:Metastasis of renal cell carcinoma to the thyroid gland 19 years after nephrectomy: a case report. 1504 Oct 62

The authors describe the case of a 58 years old man, affected by squamous cell carcinoma of the tonsil, who underwent left tonsillectomy with bilateral neck dissection, followed by radiotherapy. After a 6 months period, the patient began to suffer from dysphonia, dysphagia and loss of weight: a painless neoformation was detected at the right lobe of the tyhroid, resulted a metastasis of the tonsillar neoplasm. The search for intranodular thyroglobulin was negative; the patient underwent thyroidectomy which showed a massive infiltration of the right cricothyroid space, cricoid and thyroid wing cartilage necrosis and intralaryngeal tumor infiltration. The authors describe the thyroid metastasis treatment, present an up-to-date review of the literature and suggest a thyroid careful clinical evaluation in every patient with a previous history of oropharyngeal cancer.
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PMID:[Thyroid's metastasis of tonsillar squamous cell carcinoma]. 1622 23

We describe the case of a 44-yr-old woman, who 2 yr after thyroidectomy for a multinodular goiter with a follicular adenoma showed a rapidly growing mass of the neck causing dysphagia and moderate pain. Fine needle aspiration biopsy revealed the presence of fibroblast-like cells, partially with atypical features and no colloid: the cytological diagnosis was suspicious for an indeterminate (mesenchymal) neoplasm. Histological diagnosis, after extensive surgery, indicated aggressive fibromatosis. Immunohistochemistry was positive for vimentin and negative for thyroglobulin. After surgery, nuclear magnetic resonance showed a persistent mass of approximately 2 cm; dysphagia and pain persisted. Therefore, the patient received external radiation therapy (total dose 60 Gy) with clinical benefit. The patient is without symptoms 1 yr after surgery.
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PMID:Aggressive fibromatosis of the neck initiated after thyroidectomy. 1655 38

Impaired muscle function may be a predominant aspect of hypothyroidism and is virtually present in all patients with overt thyroid failure. Less common is the onset of hypothyroidism with clinical features mimicking a polymyositis. We have observed 3 patients, whose age ranged 63-68 years, presenting with muscle aches, cramps, proximal weakness and stiffness. Two patients had dysphagia. Serum creatine kinase (CK) and electromyography (EMC) were altered in two patients. Muscle biopsy showed type II atrophy, sporadic type I and type II grouping, "core-like" areas, and some myopathic changes such as central nuclei and muscle necrosis. No inflammatory changes were present. Immunohistochemistry of several muscle cytoskeletal proteins revealed increased desmin in "corelike" areas. Detection of serum thyroid hormone levels revealed very low triiodo-L-thyronine (T3) and thyroxine (T4), whereas thyroid-stimulating hormone (TSH) was greatly increased as well as serum anti-thyroglobulin, anti-peroxidase and anti-microsome antibodies. The patients were diagnosed having a hypothyroid myopathy due to Hashimoto thyroiditis. L-thyroxine treatment normalized clinical and hormone levels, but serum antibodies remained elevated. Muscle biopsy was fundamental to establish the correct diagnosis in our patients. Presence of over-expression of desmin in cores, as described in target lesions in neurogenic diseases, may suggest a nerve-mediated pathogenesis of hypothyroid myopathy.
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PMID:Onset of hypothyroidism with polymyositis-like clinical features in elderly patients. 1865 96

A 22-year-old male student with no past medical illness, presented with acute onset dysarthria, binocular diplopia, and dysphagia over 10 hours. On examination, he had tachycardia, hypertension, generalized hyper-reflexia, and bilateral pupil sparing oculomotor, troclear, abducens, trigeminal, facial, glossopharyngeal, and vagus nerve palsy. Rest examination was unremarkable. Facial nerve conduction study (NCS) showed decreased amplitude bilaterally and neurogenic pattern on electromyography. Limb NCS, repetitive nerve stimulation, neostigmine test, brain magnetic resonance imaging, cerebrospinal fluid, and biochemical tests were normal. Only positive tests were low thyroid-stimulating hormone (TSH) (<0.01), high free T3 (19.2 pmol/L), and high free T4 (39.2 pmol/L). Thyroid ultrasonography, anti-thyroid peroxidase, and anti-thyroglobulin antibody were normal. Patient was treated with anti-thyroid drugs, with which he completely recovered in 2 months. Though many cases with thyrotoxic myopathy have been reported, only few mention neuropathic cause of dysphagia or polyneuritis cranialis. Getting done thyroid function tests may be helpful in patients with polyneuritis cranialis of uncertain etiology.
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PMID:Polyneuritis cranialis with generalized hyperreflexia as a presenting manifestation of thyrotoxicosis. 2601 29

Malignant thyroid tumors of follicular origin comprise a spectrum, with the indolent well-differentiated thyroid carcinoma (WDTC) at one end and lethal anaplastic thyroid carcinoma (ATC) at the other. Poorly differentiated thyroid carcinoma (PDTC) lies intermediately between WDTC and ATC in terms of morphology and prognostic standpoint. This thyroglobulin producing neoplasm accounts for 4-7% of all thyroid malignancies. PDTC has been controversial due to lack of defined diagnostic criteria. We hereby report a case of PDTC in a 42-year-old female presenting with neck swelling, pain, and dysphagia for 10 months. She was diagnosed as colloid goiter on fine-needle aspiration cytology. On imaging, a large complex thyroid with central neck nodes was seen. Total thyroidectomy and central neck node dissection were done. Based on the morphology, immunostaining, and the diagnostic criteria, a diagnosis of PDTC was made. PDTC is a diagnostic challenge due to its rarity and previous equivocal diagnostic criteria.
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PMID:Poorly differentiated carcinoma of thyroid: Case report of an uncommon entity. 3019 65

Primary squamous cell carcinoma of thyroid (SCC-T) is an extremely rare, aggressive neoplasm with median survival of 9 months. Pure squamous morphology with absence of other cell types is required for diagnosis of SCC-T. Clinically, SCC-T behaves like anaplastic thyroid carcinoma (ATC) showing rapid growth, and extra thyroidal extension. We report a 91-year-old woman presenting with an enlarging thyroid mass and accompanying dysphagia and hoarseness. Fine needle aspiration revealed hypercellular specimen with large, pleomorphic, malignant cells. Intraoperative assessment revealed an inoperable tumor involving both thyroid lobes and extensively infiltrating surrounding soft tissues. A subtotal thyroidectomy was performed. Histology revealed squamous cell carcinoma replacing native thyroid tissue and infiltrating adjacent skeletal muscle. Lymphovascular and perineural invasion were present. Immunohistochemistry showed tumor cells positive for CK5-p40, Pax-8, TTF-1 and negative for thyroglobulin. P53 expression by IHC was high and Ki-67 proliferation index was > 90 %. (Next generation sequencing revealed a novel BRAF mutation (BRAF c.1799 T > A; 1801_1812del) along with TP53 and TERT mutations. PDL-1 immunohistochemistry showed positive expression in tumor cells (>80%), making patient also amenable to anti-PDL-1 immunotherapy. Patient was treated with BRAF inhibitor therapy with initial relief but eventually was put on hospice care due to increasing intolerance to therapy. This case represents a rare thyroid malignancy with a unique molecular signature consisting of a novel BRAF mutation [previously not described in SCC-T or ATC], associated with TERT-TP53 mutations. Further, importance of PDL-1 testing as a prognostic marker and as a guide to immunotherapy in refractory tumors is discussed.
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PMID:Primary squamous cell carcinoma of thyroid with a novel BRAF mutation and High PDL-1 expression: A case report with treatment implications and review of literature. 3285 62

A 5-year-old boy presented with intermittent fever for 1 month, painful neck swelling associated with dysphagia, hoarseness of voice for 3 weeks and dyspnoea of 1-day duration. On evaluation, he had elevated serum thyroglobulin levels and inflammatory markers. There was a diffuse glandular thyroid enlargement with hypoechoic areas on neck ultrasonography. Fine-needle aspiration cytology was suggestive of subacute thyroiditis (SAT), and MRI of the neck confirmed narrowing of the trachea by the enlarged thyroid. He received steroids to relieve airway compression. Levothyroxine was started. On follow-up, he was symptom-free and euthyroid; steroids and levothyroxine were discontinued. SAT presenting with compression of trachea is rare in children. This highlights the need for identifying the type of thyroiditis to determine treatment modality.
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PMID:Subacute thyroiditis with airway compromise in a 5-year-old boy. 3325 72


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