Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients with karyotype XYY who had presented with deep vein thrombosis and leg ulcers (plus pulmonary embolism in two of them) were investigated for: (1) androgens (plasma testosterone measurement, testosterone oestradiol binding globulin (TeBG) assay, GnRH 50 micrograms test), and (2) haemostasis by fibrinolysis tests (euglobulin lysis time and area, antigenic plasminogen activator assay before and after 10 min venostasis). Full evaluation of haemostasis failed to demonstrate the presence of circulating anticoagulant or of antithrombin III, protein C and protein S deficiencies. One patient had neither hormonal nor fibrinolytic abnormality. The other two patients shared some clinical features with male hypogonadism (gynoid morphotype in both, hypotrophy of the testes in one, gynaecomastia in the other). They also had hormonal disorders ("over-response" to the GnRH test in one case, elevated TeGB in the other case) and abnormalities of fibrinolysis (poor response to venostasis, high baseline level of plasminogen activator). Response to venostasis became normal after 3 months of treatment with percutaneous dihydrosterone 125 mg per day in the two patients with initially poor response. The mechanism of venous pathology in XYY subjects is discussed. A genetic defect not involving the fibrinolysis system is possible since fibrinolysis was normal in one patient; however, abnormal fibrinolysis may have been responsible for the venous pathology in the other 2 patients. The role played by abnormalities of fibrinolysis in the pathogenesis of deep vein thrombosis and leg ulcers is recalled, and the possible implication of these abnormalities in patients with XYY karyotype is emphasized.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Post-phlebitic leg ulcers and XYY karyotype: fibrinolysis and androgenic function tests. Apropos of 3 cases]. 343 47

In a controlled, prospective, randomized clinical trial, we evaluated the safety and efficacy of leuprolide, a superactive analog of luteinizing hormone releasing hormone, given in a single subcutaneous injection dose of 1 mg per day, versus diethylstilbestrol (DES) 3 mg per day by mouth in patients with previously untreated Stage D2 prostatic adenocarcinoma. Eleven leuprolide patients and 10 DES patients were evaluated for therapeutic response. Eighty per cent of patients in each group experienced subjective improvement in bone pain and urinary obstructive signs and symptoms. Although the pooled percentages of complete, partial, and stable objective responses were greater for the leuprolide group than the DES group, the sums of the percentages of complete and partial objective responses were comparable for both treatment groups during the first forty-eight and sixty weeks of the study, respectively. In addition, patients not responding to leuprolide generally experienced no benefit with crossover to DES, and vice versa. Serious adverse reactions were more common in the DES group and included fatal myocardial infarction, arrhythmia, deep venous thrombosis, and gynecomastia. Vasomotor flushing, disease flare, and injection site irritation occurred most often in leuprolide patients, but did not require modification or discontinuation of treatment.
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PMID:Comparison of leuprolide and diethylstilbestrol for stage D2 adenocarcinoma of prostate. 392 51

Klinefelter's syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized by small, firm testes, azoospermia, gynecomastia, varying degrees of eunuchoidism and testosterone deficiency with elevated gonadotropin plasma levels. In Klinefelter's syndrome there is an increase of certain systemic diseases including venous thromboembolism. An increased thromboembolic risk in hypogonadic men has been explained with hypofibrinolysis due to androgen deficiency. Only two cases have been reported about the association between Klinefelter's syndrome and well-known congenital or acquired thrombophilias. We report the case of a 39-year-old patient with Klinefelter's syndrome who underwent severe deep venous thrombosis with pulmonary embolism, in the absence of any circumstantial triggering event. Further examinations also showed a double heterozygosis for G20210A prothrombin and factor V Leiden mutations. This case suggests that the increased thromboembolic risk, reported in Klinefelter's syndrome, can be worsened by the co-existence of one or more well-known thrombophilic conditions, as shown by the relatively young age of the patient. More studies are needed to clearly understand the pathogenesis of venous thromboembolism in males affected by Klinefelter's syndrome.
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PMID:Severe venous thromboembolism in a young man with Klinefelter's syndrome and heterozygosis for both G20210A prothrombin and factor V Leiden mutations. 1254 36

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

The advent of the tumescent technique in 1987 allowed for safe total corporal contouring as an ambulatory, single-session megaliposuction with the patient under regional anesthesia supplemented by local anesthetic only in selected areas. Safety and aesthetic issues define large-volume liposuction as having a 5,000-ml aspirate, mega-volume liposuction as having an 8,000-ml aspirate, and giganto-volume liposuction as having an aspirate of 12,000 ml or more. Clinically, a total volume comprising 5,000 ml of fat and wetting solution aspirated during the procedure qualifies for megaliposuction/large-volume liposuction. Between September 2000 and August 2005, 470 cases of liposuction were managed. In 296 (63%) of the 470 cases, the total volume of aspirate exceeded 5 l (range, 5,000-22,000 ml). Concurrent limited or total-block lipectomy was performed in 70 of 296 cases (23.6%). Regional anesthesia with conscious sedation was preferred, except where liposuction targeted areas above the subcostal region (the upper trunk, lateral chest, gynecomastia, breast, arms, and face), or when the patient so desired. Tumescent infiltration was achieved with hypotonic lactated Ringer's solution, adrenalin, triamcinalone, and hyalase in all cases during the last one year of the series. This approach has clinically shown less tissue edema in the postoperative period than with conventional physiologic saline used in place of the Ringer's lactate solution. The amount injected varied from 1,000 to 8,000 ml depending on the size, site, and area. Local anesthetic was included only for the terminal portion of the tumescent mixture, wherever the subcostal regions were infiltrated. The aspirate was restricted to the unstained white/yellow fat, and the amount of fat aspirated did not have any bearing on the amount of solution infiltrated. There were no major complications, and no blood transfusions were administered. The hospital stay ranged from 8 to 24 h for both liposuction and liposuction with a lipectomy. Serous discharge from access sites and serosanguinous fluid accumulation requiring drainage were necessitated in 32 of 296 cases (10.8%). Minor recontouring touch-ups were requested in 17 of 296 cases (5.7%). Early ambulation was encouraged for mobilization of third-space fluid shifts to expedite recovery and to prevent deep vein thrombosis. Follow-up evaluation ranged from 6 to 52 months, with 38 (12.8%) of 296 patients requesting further sessions for other new areas. Average weight reduction observed was 7 to 11.6 kg (approx. 4 to 10% of pre-operative body weight). Meticulous perioperative monitoring of systemic functions ensures safety in tumescent megaliposuction for the obese, and rewarding results are achieved in a single sitting.
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PMID:Safe total corporal contouring with large-volume liposuction for the obese patient. 1697 58

Klinefelter's syndrome (KS) is a common cause of man infertility characterized by small testes, gynecomastia and hypogonadism. Deep vein thrombosis and thomboembolic events are frequent in these patients. Hormone imbalance and co-existent mutations in the coagulation system may be the primary factors in this hypercoagulable state. The increased thromboembolic risk in hypogonadic men has been explained by hypofibrinolysis due to androgen deficiency. Regarding the association between KS and congenital and acquired thrombophilias, to date, only three cases have been. Here, we present the youngest KS case with pulmonary thromboembolism with the heterozygous mutations in factor V Leiden and prothrombin genes, as detected by further tests. He had the previous diagnosis of diabetes mellitus and body mass index was 30 kg/m(2). Our report discusses the prothrombotic state in KS patients, with other possible causes for the young presentation and the importance of necessary tests in emergency service admissions with embolism.
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PMID:Serious venous thromboembolism, heterozygous factor V Leiden and prothrombin G20210A mutations in a patient with Klinefelter syndrome and type 2 diabetes. 1975 74

Advent of the tumescent technique in 1987 has allowed for safe contouring in ambulatory single session liposuction under regional or general anaesthesia. Safety and aesthetic issues define MegaLiposuction to be in Volume in litres of more than 10% of Body weight in Kgs. 870 cases of liposuction were performed between September 2000 and August 2008. In (65%) cases, the total volume of aspirate was greater then 5 liters. (Range: 5 to 25 liters). In 24% cases, the large volume liposuction was combined with a limited or a total block lipectomy. Regional anaesthesia with conscious sedation was preferred except where liposuction was for above the subcostal region (the Upper Trunk, Lateral Chest, Back, Gynaecomastia, Breast, Arms and Face) or when the patient so desired. Tumescent infiltration with Lactated ringer, adrenalin, triamcinalone and hyalase was made in all cases. This approach has clinically shown less tissue edema in the post operative period than when the conventional physiological saline was being used in place of Ringer Lactate. The amount injected varied from 1,000 ml to 12,500 ml depending on the size, site and area. Local anesthetic was included only to the terminal portion of the tumescent mixture while infiltrating the sub-costal regions, or when above costal region was combined with below costal region being anaesthetized with Spinal Anaesthesia. The aspirate was restricted to the unstained white / yellow fat and the amount of fat aspirated did not have any bearing to the amount of solution infiltrated. There was no major complication. Blood transfusion was given only on one occasion when the patient had been on aspirin and had also received Low Molecular weight Heparin intra-operative. The hospital stay ranged from 8 to 24 hours for liposuction as well as for liposuction with a lipectomy. Serous discharge from access sites, sero-sanguinous fluid accumulation requiring drainage were necessitated in less than 10% cases. Minor re-contouring touch ups were requested in 5% cases. Early ambulation was encouraged for mobilization of third space fluid shifts to expedite recovery and to prevent deep vein thrombosis. More than 10% patients were operated on for Liposuction of other areas, after a gap of 7 days to 6 months. Meticulous perioperative monitoring of systemic functions ensures safety in tumescent megaliposuction for the obese and rewarding results can be achieved in a single sitting.
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PMID:Liposuction. 2017 40

Klinefelter's syndrome, which is characterized by small testes, gynecomastia, hypogonadism, and infertility, is the most common cause of primary testicular failure, and commonly has an XXY karyotype. Deep vein thrombosis and thomboembolic events are a rare occurrence in these patients. Although the exact mechanism is not completely understood, it is thought that increased thromboembolic risk in hypogonadic men can be explained by hypofibrinolysis resulting from androgen deficiency. We present the case of a 48-year-old man with Klinefelter's syndrome who experienced recurrent episodes of deep venous thrombosis and pulmonary embolism while undergoing therapeutic anticoagulation. Our report discusses this association and management of the prothrombotic state in patients with Klinefelter's syndrome.
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PMID:Recurrent deep vein thrombosis and pulmonary embolism in a patient with Klinefelter's syndrome. 2305 3