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)

A clinical study was undertaken to assess gynecologic-obstetric changes in morbidly obese women who lost greater than or equal to 50% of their excess weight with bariatric surgery. The 138 females (109 of reproductive age), age 35 +/- 9 SD yr, weighed 124 +/- 23 kg before surgery and 79 +/- 13 kg after weight loss had stabilized. Menstrual irregularities were present in 40.4% of premenopausal patients preoperatively; after massive weight loss, cycles were abnormal in 4.6% (p less than 0.001). Infertility problems were present preoperatively in 29.3% Of these, nine tried to conceive after weight loss and were successful. During past pregnancies, medical complications were frequent (hypertension 26.7%, pre-eclampsia 12.8%, diabetes 7.0%, and deep vein thrombosis 7.0%). After weight-loss stabilization, these obstetric complications did not occur. Incidence of urinary stress incontinence decreased from 61.2% to 11.6% (p less than 0.001). Gynecologic-obstetric changes tended to normalize after loss of massive body weight.
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PMID:Gynecologic-obstetric changes after loss of massive excess weight following bariatric surgery. 336 Oct 39

The Leiden mutation is a recent discovery. It is the main cause of inherited thrombophilia and has been found in 20-60% of deep vein thrombosis cases. More recently it has been found in a significant number of cases of obstetric complications attributable to placental thrombosis. Current patient management practice for dealing with the Leiden mutation is based mainly on information about deep vein thrombosis because there is little information on pregnancy complications. There are no prospective studies examining the risk of developing pregnancy complications for Leiden mutation carriers. The aim of this study is to do that by comparing the frequency of unfavourable pregnancy outcomes among carriers with those among controls. The number of women developing miscarriages, intrauterine deaths, or infertility problems among 128 Leiden mutation carriers was compared with the number among 461 controls. The risk of having at least one miscarriage or infertility problems was 1.5 times greater for Leiden mutation carriers than controls. This result was statistically significant (95% CI 1.2, 2.7). The risk of having at least two miscarriages or infertility problems was 2.5 times greater for Leiden mutation carriers than controls. This was also statistically significant (95% CI 1.2, 5.13).
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PMID:Factor V Leiden as a risk factor for miscarriage and reduced fertility. 1092 96

BACKGROUND: D-dimer is considered a marker of hypercoagulable state and of endogenous fibrinolysis, so increased d-dimer is detectable in patients affected by thrombosis. Yet, several studies showed that also infertility, in particular secondary infertility due to recurrent fetal losses, has been often related to thrombotic events, in particular in women carrying thrombotic risk factors such as inherited thrombophilia (MTHFRC677T, PTHRA20210G, Factor V Leiden polimorphisms and/or inhAfter this screening we selected 39erited protein C, protein S, AT III deficiency) or acquired thrombophilia (primary antiphospholipid syndrome, acquired protein C, protein S, AT III deficiency, drugs induced thrombophilia). However, because its high predictive negative value in case of suspected thrombosis, increased d-dimer has been often associated to subclinical thrombophilia. The aim of this study is to investigate the role of d-dimer as first marker of thrombophilia in women affected by unexplained infertility and subsequently to search the cause of increased d-dimer, such as inherited and/or acquired thrombophilia. PATIENTS AND METHODS: We selected 79 patients with unexplained primary or secondary infertility. We excluded 40 patients affected by hydrosalpinx, uterine fibroids, uterine malformations, endocrinological and immunological diseases, luteal insufficiency, cytogenetical alterations. All remaining 39 patients were tested for d-dimer and divided in two groups: the patients of group A (25 patients) showed increased plasma d-dimer, in group B were included 14 patients with normal plasma level of d-dimer. After this step all 39 patients were screened for MTHFRC677T, PTHRA20210G, Factor V Leiden polimorphisms, protein C, protein S, AT III, anticardiolipin IgM and IgG, lupus anticoagulant. In the control group were included 15 age matched women without sterility problems referred to our outpatient's section of vascular medicine for suspected deep venous thrombosis.Statistical analysis was based on chi2 test, differences were considered to be significant if p < 0.05. RESULTS: D-dimer was increased in 25/39 and 20/25 showed inherited/acquired thrombophilia while patients with normal d-dimer showed inherited/acquired thrombophilia in 7/14 (p: < 0.05, s). DISCUSSION: D-dimer is a well known marker of hypercoagulable state, in particular its high predictive negative value in case of suspected thrombosis has been recognised by several reports. Yet, increased d-dimer has been identified also for subclinical thrombophilia besides for vascular thrombosis. Our data, in fact, for the first time suggest an interesting role of d-dimer to identify women affected by unexplained primary or secondary infertility and thrombophilia. So, probably there is a role for d-dimer in these subjects for its predictive positive value. Of course, further data on large based population are needed to confirm our results, because these findings may speed up a diagnostic screening in these patients also for a good cost/effectiveness of this test.
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PMID:The role of d-dimer as first marker of thrombophilia in women affected by sterility: implications in pathophysiology and diagnosis of thrombophilia induced sterility. 1553 89

Thromboembolic phenomena are a serious consequence of assisted reproductive technology. We present a case of upper extremity deep vein thrombosis (DVT) at 7 weeks gestation following ovarian hyperstimulation syndrome (OHSS) and IVF. Three weeks after recovering from OHSS, the patient presented with left neck pain and swelling. Ultrasound revealed a thrombus in the left jugular vein and left subclavian vein. Low molecular weight heparin (LMWH) was initiated with symptom resolution within 1 week. The patient remained on LWMH throughout her pregnancy and delivered at term. A literature review showed 97 published cases of thromboembolism following ovulation induction. A majority of these cases was associated with OHSS and pregnancy and the site of involvement was predominantly in the upper extremity and neck. Infertility physicians and obstetricians should be aware of this complication and keep in mind that it may occur weeks after resolution of OHSS symptoms.
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PMID:Subclavian vein thrombosis following IVF and ovarian hyperstimulation: a case report. 1608 62

XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. We report on the results of a cross-sectional, multi-center study of 95 males age 1-55 with XXYY syndrome (mean age 14.9 years), describing diagnosis, physical features, medical problems, medications, and psychological features stratified by age groups. The mean age of diagnosis was 7.7 years. Developmental delays and behavioral problems were the most common primary indication for genetic testing (68.4%). Physical and facial features varied with age, although hypertelorism, clinodactyly, pes planus, and dental problems were common across all age groups. Tall stature was present in adolescents and adults, with a mean adult stature of 192.4 cm (SD 7.5; n = 22). Common medical problems included allergies and asthma (>50%), congenital heart defects (19.4%), radioulnar synostosis (17.2%), inguinal hernia and/or cryptorchidism (16.1%), and seizures (15%). Medical features in adulthood included hypogonadism (100%), DVT (18.2%), intention tremor (71%) and type II diabetes (18.2%). Brain MRI (n = 35) showed white matter abnormalities in 45.7% of patients and enlarged ventricles in 22.8%. Neurodevelopmental and psychological difficulties were a significant component of the behavioral phenotype, with developmental delays and learning disabilities universal but variable in severity. Twenty-six percent had full-scale IQs in the range of intellectual disability (MR), and adaptive functioning was significantly impacted with 68% with adaptive composite scores <70. Rates of neurodevelopmental disorders, including ADHD (72.2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized.
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PMID:A new look at XXYY syndrome: medical and psychological features. 1848 Dec 71

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

Klinefelter's syndrome is characterized by hypogonadism and infertility and commonly has an XXY karyotype. Within the population of men with this disorder, there is an increased incidence of venous thromboembolic disease. Although the precise mechanisms underlying this prothrombotic state have not been elucidated, it is thought that the increased incidence of thromboembolism is associated with a hypofibrinolytic state secondary to androgen deficiency. We present the case of a 26-year-old man with Klinefelter's syndrome who had recurrent episodes of deep venous thrombosis and pulmonary embolism while undergoing therapeutic anticoagulation. Coagulation studies were significant for the heterozygous mutations of MTHFR-677C>T and 1298A>C gene and hyperhomocystenemia. Our aim is to raise awareness of this association and discuss management for these patients.
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PMID:Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C. 2044 91

Upper extremity deep venous thrombosis (UEDVT) is uncommon as a spontaneous event in the general population and is associated with well-defined risk factors. Thromboembotic events are serious, but fortunately rare, complications following ovarian stimulation for IVF. A review of the Literature indicates that thromboembolic events after ovarian stimulation are usually associated with ovarian hyperstimulation syndrome (OHSS). The incidence of UEDVT is higher in women undergoing assisted reproductive technology (ART) compared to the general population. The incidence of this condition is estimated to be 0.08%-0.11% of treatment cycles. While lower extremity DVT may be considered a natural consequence of OHSS, given the diminished venous return secondary to enlarged ovaries and ascites, it is unclear why there appears to be a predilection for thrombi in the upper extremities in women undergoing ART. Early diagnosis and treatment is crucial for both maternal and fetal well-being. Since infertility treatment is becoming commonplace in today's society, women undergoing treatment and their clinicians should be better informed of the presentation and clinical course of UEDVT to enable early diagnosis and start treatment. Consideration must be given to screening patients at risk for OHSS for thrombophilias, as well as administrating prophylactic anticoagulation therapy to patients who develop OHSS.
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PMID:[Upper extremity deep vein thrombosis following ovarian stimulation]. 2242 6

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

A 35-year-old woman with a history of infertility, was presented to our hospital because of impaired consciousness and cerebellar ataxia, 14 days after in vitro fertilization. She received an embryo transfer under controlled ovarian hyper-stimulation. Magnetic resonance images revealed acute infarction in the cerebellum and brainstem. Magnetic resonance angiography showed a basilar artery occlusion at the end point. Following immediate intravenous rt-PA treatment, the symptoms disappeared completely. A transesophageal echocardiography revealed an atrial septal defect with a continuous left to right shunt. In addition, a Valsalva maneuver trans-esophageal echocardiography with injected saline showed the presence of jet bubbles in the left atrium crossing via the atrial septal defect. She was diagnosed with paradoxical cerebral embolism. Anticoagulant therapy was continued and she gave birth to a healthy baby. Deep vein thrombosis was associated with the ovarian hyper-stimulation syndrome that occurred during infertility treatment. As anti-phospholipid antibodies were weakly positive, the possibility of anti-phospholipid antibody syndrome was suggested. If a woman of childbearing age is presented because of stroke, it is important to administer initial therapy by keeping fertility in mind. Thrombolytic therapy for pregnant women should be carefully considered, because of the associated hazards; however, it is a very important treatment for maternal function after birth.
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PMID:[A Case of Paradoxical Cerebral Embolism Developed during in vitro Fertilization Treatment]. 2645 79


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