Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Esophageal transit (E.T.) was investigated in 122 consecutive euthyroid patients with scintigraphically proven goitre, and compared to 26 control subjects. E.T. was quantified using the 81mKr transit time, a highly sensitive technique capable of detecting even minor E.T. disorders. Abnormal E.T. was observed in 39% of goitrous patients, while it was normal in all controls. Occurrence of delayed E.T. was not correlated with either goitre firmness, the presence of symptoms of neck discomfort, difficulties in swallowing, or nodularity. E.T. delay was more frequent and more severe with larger goitres. In addition, E.T. delay was significantly correlated with asymmetry and "low lying" goitres. In summary, the present studies are the first demonstration of frequent E.T. anomalies in goitrous patients. The data suggest that E.T. impairment could be mediated by two mechanisms: a direct compression effect in patients with large, asymmetrical, partially retrosternal goitres; and an indirect functional esophageal anomaly in patients with small goitres.
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PMID:Abnormalities of esophageal transit in patients with sporadic nontoxic goitre. 366 70

We describe the clinical aspects of primary thyroid lymphoma, particularly diagnostic procedures and successful therapy based on our observation of 119 patients with primary thyroid lymphoma. Thyroid lymphoma occurred exclusively in the thyroid gland of patients with Hashimoto's thyroiditis as a rapidly growing mass in the thyroid gland. Therefore, progressively enlarging goiter and compression symptoms were the most common clinical manifestations. A significant number of patients in our series had subclinical hypothyroidism (14%) or overt hypothyroidism (27%) because of the coexistence of Hashimoto's thyroiditis. Whenever thyroid lymphoma is suspected, we recommend an ultrasound scan of the thyroid gland and fine needle aspiration biopsy as initial diagnostic procedures. Thyroid ultrasound showed characteristic asymmetrical pseudocystic pattern in 43 of the 46 patients (93%), and thyroid cytologic examination showed abundant monomorphic infiltration of lymphoid cells. Among 83 patients who underwent fine needle aspiration biopsy, 65 patients (78.3%) were diagnosed correctly and 10 patients (12%) had borderline cytologic results. Thus, 90% of patients with thyroid lymphoma were diagnosed or the diagnosis suspected based on fine needle aspiration biopsy. To confirm the diagnosis of lymphoma histologically and to determine the degree of malignancy, open biopsy taking 2-3 g tissue should be done for all cases. Treatment of thyroid lymphoma does not require resection of all lymphoma tissue or total thyroidectomy. Our successful treatment is radiation therapy combined with six courses of CHOP chemotherapy (cyclophosphamide, adriamycin, vincristine, prednisolone). This mode of therapy improved the 8-year survival rate to nearly 100% regardless of the histological type of malignancy.
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PMID:Clinical aspects of primary thyroid lymphoma: diagnosis and treatment based on our experience of 119 cases. 836 58

A 54-year-old man of Persian origin presented to our department with a 1-year history of ulcers on the right leg that had been unresponsive to numerous topical treatments, accompanied by lymphedema of the right leg. Medical history included hypergonadotropic hypogonadism, which had not been further investigated. He was treated for 20 years with testosterone IM once monthly, which he stopped a year before the current hospitalization for unclear reasons. The patient reported no congenital lymphedema. Physical examination revealed two deep skin ulcers (Figure 1) on the right leg measuring 10 cm in diameter with raised irregular inflammatory borders and a boggy, necrotic base discharging a purulent hemorrhagic exudate. Bilateral leg pitting edema and right lymphangitis with lymphadenitis were noted. He had low head hair implantment, sparse hair on the body and head, hyperpigmentation on both legs, onychodystrophia of the toenails (mainly the large toe and less prominent on the other toes), which was atrophic lichen-planus-like in appearance and needed no trimming (Figure 2), normal hand nails, oral thrush, and angular cheilitis. Other physical findings were gynecomastia, pectus excavatum, small and firm testicles, long extremities, asymmetrical goiter, systolic murmur 2/6 in left sternal border, and slow and inappropriate behavior. The patient's temperature on admission was 39 degrees C. Blood cultures were negative for bacterial growth. Results of laboratory investigations included hemoglobin (11.2 g/dL), hematocrit (26.8%), normal mean corpuscular volume and mean corpuscular hemoglobin volume, and red blood cell distribution width (16%). Blood smear showed spherocytes, slight hypochromia, anisocytosis, macrocytosis, and microcytosis. Blood chemistry values were taken for iron (4 micro g/dL [normal range 40-150 micro g/dL]), transferrin (193 mg/dL [normal range 220-400 mg/dL]), ferritin (1128 ng/mL [normal range 14-160 ng/mL]), transferrin saturation (1.5% [normal range 20%-55%]), serum folate (within normal limits), and vitamin B12 (within normal limits). Direct Coombs' test equaled positive 2 + IgG. All these values indicated anemia of chronic diseases combined with hemolytic anemia. Further blood work-up tested antinuclear antibody (positive <1:80 homogeneous pattern), rheumatoid factors (143 IU/mL [positive >8.5 IU/mL]), C-reactive protein (286 mg/L [normal range 0-5 mg/L]), anticardiolipin IgM antibody (9.0 monophosphoryl lipid U/mL [normal range 0-7.00 MPL U/mL]) and antithrombin III activity (135% [normal range 74%-114%]). Results of other blood tests were within normal limits or negative, including lupus anticoagulant, beta2 glycoprotein, anticardiolipin IgG Ab, anti-ss DNA Ab, C3, C4, anti-RO, anti-LA, anti-SC-70, anti-SM Ab, P-ANCA, C-ANCA, TSH, FT4, anti-T microsomal, antithyroglobulin, protein C activity, protein S free, cryoglobulins, serum immunoelectrophoresis, VDRL, hepatitis C antibodies, hepatitis B antigen, and human immunodeficiency virus. Endocrinological work-up examined luteinizing hormone (22.9 mIU/mL [normal range for adult men 0.8-6 mIU/mL]), follicle stimulating hormone (49.7 mIU/mL [normal range for adult men 1-11 mIU/mL]), testosterone (0.24 ng/mL [normal range for adult men 2.5-8.0 ng/mL]), bioavailable testosterone (0.02 ng/mL [normal range for adult men >0.6 ng/mL]), and percent bioavailable test (8.1% [normal value >20%]). These results indicate hypergonadotropic hypogonadism. Plasminogen activator inhibitor 1 was 6 U (normal value 5-20 U/mL). Karyotyping performed by G-banding technique revealed a 47 XXY karyotype, which is diagnostic of Klinefelter's syndrome. Doppler ultrasound of the leg ulcers disclosed partial thrombus in the distal right femoral vein. X-rays and bone scan displayed osteomyelitis along the right tibia. Histological examination of a 4-mm punch biopsy from the ulcer border revealed hyperkeratosis, acanthosis, hypergranulosis, and mixed inflammatory infiltrate containing eosinophils compatible with chronic ulcer. Multiple vessels were seen, compatible with a healing process. Direct immunofluorescence of the biopsy revealed granular IgM in the dermo-epidermal junction. Indirect immunofluorescence was negative. Thyroid function tests showed normal thyroid stimulating hormone and free throxine4. Multinodular goiter was seen on thyroid scan and ultrasound. Thyroid fine needle aspiration was compatible with multinodular goiter (normal follicular cells, free colloid, macrophages with pigment). IV treatment with amoxicillin-clavulanic acid 1 g t.i.d. was administered for 2 weeks, with a decrease in temperature and normalization of the leukocyte level. Oral antibiotic treatment with amoxicillin-clavulanic acid was continued for 10 more days, followed by 25 days of ciprofloxacin for the osteomyelitis. Local treatment included saline soakings followed by application of Promogran (Johnson & Johnson, New Brunswick, NJ) and Kaltostat (ConvaTec Ltd., a Bristol-Myers Squibb Company, New York, NY) with slight improvement. At the same time, the patient was treated with warfarin sodium due to deep vein thrombosis under international normalized ratio 2-3. The patient was treated with IM testosterone once monthly for 1 year, which resulted in a reduction in the diameter and depth of the leg ulcers (Figure 3). Blood tests were not performed for follow-up of the immune state.
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PMID:Klinefelter's syndrome presenting with leg ulcers. 1536 65

Primary thyroid lymphoma is a rare cause of both thyroid malignancy and extra-nodal lymphoma. It typically presents as a rapidly enlarging goitre with compressive symptoms. Histological analysis of a biopsy specimen is necessary to confirm the diagnosis. Awareness of this disease is important for early diagnosis and appropriate treatment. A 55-year-old man was admitted due to a 3-month history of cervical enlargement, facial and periorbital oedema and dyspnoea, apparently due to a superior vena cava syndrome. However, cervical ultrasound showed asymmetrical thyroid enlargement, lobulated contours and a hypoechogenic texture. A neck CT scan showed calibre reduction of the superior vena cava. The diagnosis of primary thyroid lymphoma was confirmed by open biopsy of the thyroid gland. The patient started treatment with rituximab with clinical improvement.
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PMID:When a Goitre is a Thyroid Lymphoma. 3075 1