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Famularo G Minisola G Nicotra GC Simone CD 《World journal of gastroenterology : WJG》2005,11(48):7700-7701
TO THE EDITOR
A 79-year-old man was hospitalized because of worsening upper abdominal pain which started two days before admission and was continuously present. His personal and family historywas uneventful, he did not smoke and denied toxic habits or using any medications, including over the-counter medications, herbal remedies or any vitamin supplements. 相似文献
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Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 总被引:7,自引:1,他引:7 下载免费PDF全文
BACKGROUND: The factor V Leiden (FVL) mutation has been shown to be the most frequent cause of hereditary thrombophilia. The prevalence of the mutation in patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) has not been fully elucidated. AIMS: To investigate the association between the FVL mutation and BCS and PVT. PATIENTS: Thirty patients with BCS, 32 patients with PVT, and a control group of 54 patients with liver disorders and no history of thrombosis. METHODS: The factor V gene was analysed for the presence of the FVL mutation by a polymerase chain reaction (PCR) technique. The presence of the mutation was confirmed by DNA sequencing. RESULTS: Seven (23%) patients with BCS, one (3%) patient with PVT, and three (6%) patients in the control group were identified as having the FVL mutation. There of the BCS patients had coexisting hypercoagulable states. The prevalence of the FVL mutation was significantly higher in patients with BCS compared with patients with PVT and controls (p < 0.04). The FVL mutation was the second most common aetiology associated with BCS. CONCLUSION: The FVL mutation is an important factor in the pathogenesis of BCS and screening for the disorder must be included in the investigation of patients presenting with this condition. In contrast, the FVL mutation is not a major predisposing factor in the pathogenesis of PVT. 相似文献
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Maria T. Sifontes Rachelle Nuss Stephen P. Hunger Judith Wilimas Linda J. Jacobson & Marilyn J. Manco-Johnson 《British journal of haematology》1997,96(3):484-489
Thromboembolic phenomena, frequently observed in children with cancer who are undergoing chemotherapy, can cause significant morbidity and, less frequently, mortality. Many contributory factors have been identified. Whether the recently identified and most common coagulation defect predisposing to thrombosis, factor V Leiden, is associated with thrombosis in this setting, has not been explored. The current study was undertaken to determine the prevalence of the factor V Leiden mutation in children with cancer who developed thromboembolic phenomena as compared to those with cancer who did not. Genomic DNA was amplified using the polymerase chain reaction (PCR), followed by digestion of the amplification product with the restriction enzyme Mnl I. The digested PCR products were then size-fractionated to classify samples as heterozygous, homozygous or normal for the factor V Leiden mutation. 67 children with cancer were evaluated for the factor V Leiden mutation. One of 32 children with cancer and thrombosis, and none of 35 who had not experienced thrombotic problems, was found heterozygous for this mutation. We conclude that the factor V Leiden mutation does not play a significant role in the overall incidence of thromboses that occur in children with cancer. 相似文献
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Gurjeewan Garewal Reena Das Yogesh Chawla & R. K. Dhiman 《British journal of haematology》1999,105(3):842-842
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Spontaneous thrombosis in mice carrying the factor V Leiden mutation 总被引:15,自引:4,他引:15
Cui J Eitzman DT Westrick RJ Christie PD Xu ZJ Yang AY Purkayastha AA Yang TL Metz AL Gallagher KP Tyson JA Rosenberg RD Ginsburg D 《Blood》2000,96(13):4222-4226
A polymorphism in coagulation factor V, factor V Leiden (FVL), is the major known genetic risk factor for thrombosis in humans. Approximately 10% of mutation carriers experience clinically significant thrombosis in their lifetime. In a small subset of patients, thrombosis is associated with coinheritance of other prothrombotic gene mutations. However, the potential contribution of additional genetic risk factors in the majority of patients remains unknown. To gain insight into the molecular basis for the variable expressivity of FVL, mice were generated carrying the homologous mutation (R504Q [single-letter amino acid codes]) inserted into the endogenous murine Fv gene. Adult heterozygous (FvQ/+) and homozygous (FvQ/Q) mice are viable and fertile and exhibit normal survival. Compared with wild-type mice, adult FvQ/Q mice demonstrate a marked increase in spontaneous tissue fibrin deposition. No differences in fetal development or survival are observed among FvQ/Q, FvQ/+ or control littermates on the C57BL/6J genetic background. In contrast, on a mixed 129Sv-C57BL/6J genetic background, FvQ/Q mice develop disseminated intravascular thrombosis in the perinatal period, resulting in significant mortality shortly after birth. These results may explain the high degree of conservation of the R504/R506 activated protein C cleavage site within FV among mammalian species and suggest an important contribution of other genetic factors to the thrombosis associated with FVL in humans. (Blood. 2000;96:4222-4226) 相似文献
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P Fickert H Ramschak L Kenner G Hoefler TA Hinterleitner W Petritsch M Klimpfinger GJ Krejs RE Stauber 《Gastroenterology》1996,111(6):1670-1673
Budd-Chiari syndrome during pregnancy has rarely been reported. This report presents a case of acute hepatic failure in a 20-year-old pregnant woman attributable to Budd-Chiari syndrome with underlying resistance to activated protein C caused by factor V Leiden mutation. The patient delivered a healthy girl by cesarean section in the 31st week of pregnancy. Acute hepatic failure in the 6th week postpartum was successfully treated by emergency liver transplantation, and the patient and her child were doing well at 8-month follow-up. Liver transplantation was lifesaving; normal factor V production by the transplant corrected the underlying coagulopathy. In this patient, latent thrombophilia attributable to activated protein C resistance was apparently aggravated by the hypercoagulable state of pregnancy leading to acute Budd-Chiari syndrome. Activated protein C resistance should be sought as an etiologic factor in patients with Budd-Chiari syndrome. (Gastroenterology 1996 Dec;111(6):1670-3) 相似文献
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Pablos JL Caliz RA Carreira PE Atsumi T Serrano L Amengual O Santiago B Khamashta MA Hughes GR Gomez-Reino JJ 《The Journal of rheumatology》1999,26(3):588-590
OBJECTIVE: Antiphospholipid antibodies (aPL) are thrombophilic risk markers in patients with systemic lupus erythematosus (SLE) or primary antiphospholipid syndrome (APS). The risk factors for recurrent venous or arterial thrombosis and indications for longterm anticoagulation therapy are debated. We hypothesized that carrying a second thrombophilic defect, factor V Leiden mutation, would increase the risk for thrombosis in patients with aPL. METHODS: Seventy-five patients with primary APS and 83 with SLE and aPL with or without thrombosis followed at 2 university hospitals were studied. Factor V mutation rate was analyzed in patients and in 200 healthy blood donors by polymerase chain reaction analysis. RESULTS: The prevalence of factor V Leiden mutation in patients with SLE and aPL or primary APS was similar to controls. Patients with deep vein thrombosis or arterial thrombosis did not have a significantly increased rate of factor V mutation compared to controls or to patients with aPL without thrombosis. CONCLUSION: Factor V Leiden mutation is not significantly associated with vein thrombosis in patients with aPL. However, due to the sample size we cannot rule out synergy between both factor V Leiden and aPL. A trend toward increased risk for thrombosis was detected in patients with the mutation and this should be analyzed in a larger study. 相似文献
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Lale Olcay Aytemiz Gürgey Haluk Topalolu Sedat Altay Hülya Parlak Murat Firat 《American journal of hematology》1997,56(3):189-190
An 11-year-old boy with mild hemophilia A was admitted to our hospital because of focal convulsions. Magnetic resonance imaging showed an old occipital infarct. Protein C, S, antithrombin III, anticardiolipin antibodies and fibrinogen were normal. Heterozygosity for factor V Leiden mutation was detected. We suggest that factor V Leiden mutation should be studied in hemophiliacs with thrombosis. Am. J. Hematol. 56:189–190, 1997. © 1997 Wiley-Liss, Inc. 相似文献
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Colak Y Karasu Z Oruc N Can C Balým Z Akarca U Gunsar F Ersoz G Tokat Y Batur Y 《European journal of gastroenterology & hepatology》2006,18(8):917-920
OBJECTIVES: Budd-Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction and may be caused by various prothrombotic disorders. We aimed to study the role of hyperhomocysteinaemia, factor V Leiden mutation and G20210A prothrombin gene mutation in the pathogenesis of the syndrome. METHODS: Thirty-two patients (16 male, 16 female, aged 19-45 years) with angiographically verified BCS and 33 age-matched and sex-matched voluntary healthy controls (15 male, 18 female, aged 19-45 years) were included into the study. Factor V Leiden and prothrombin gene mutations were determined in extracted DNA from peripheric mononuclear cells, using a light cycler amplification system. Plasma homocysteine levels were measured by fluorescence polarization immunoassay. RESULTS: The homozygote factor V Leiden mutation was diagnosed in four BCS patients and the heterozygote mutation was diagnosed in five. The frequency of the mutant allele was 20.3% in BCS patients and 7.6% in the controls (P < 0.05). There was no significant difference in prothrombin gene mutation frequency between the two groups. Serum homocysteine levels were significantly higher in the BCS group than in the controls (16.4 +/- 8.8 vs 11.0 +/- 2.7 micromol/l; P < 0.01). BCS patients with the mutant factor V Leiden allele have significantly higher levels of serum homocysteine (22.1 +/- 13.3 vs 14.4 +/- 5.9 mumol/l; P < 0.05). CONCLUSIONS: Hyperhomocysteinaemia, especially when associated with the factor V Leiden mutation, is an important risk factor for the development of BCS. 相似文献
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Mehtap Akbalik Feride Duru Tunc Fisgin Haydar Ali Tasdemir Lutfi Incesu Davut Albayrak Emel Ozyurek 《Blood coagulation & fibrinolysis》2007,18(4):371-374
A 5-year-old girl in whom the diagnosis of inherited factor XIII deficiency was established at the age of 1 day presented with cryptic tonsillitis along with drowsiness and an abrupt occurrence of getting left interior cross eyed. While an intracranial hemorrhage was expected, cerebral imaging studies surprisingly revealed multiple sino venous thrombosis. In prothrombotic screening studies she and her father were both found to be heterozygous for factor V Leiden mutation along with having elevated levels of lipoprotein(a). Low-molecular-weight heparin was started. Ventriculoperitoneal shunt was applied because of persistence of increased intracranial pressure. Thrombosis disappeared and blood flow was normalized by the end of 2 months and the patient was discharged on coumadin therapy as being well. We would like to report this unusual case and to discuss the possible effects of two major genetic prothrombotic risk factors on inherited bleeding tendency or vice versa. 相似文献
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Maria T. Sifontes Rachelle Nuss Stephen P. Hunger Jill Waters Linda J. Jacobson Marilyn Manco-Johnson 《American journal of hematology》1998,57(1):29-32
To determine the prevalence of activated protein C resistance and the factor V Leiden mutation (position 1691, arginine 506 to glutamine substitution) in children with thrombosis, plasma samples from children with thrombosis were tested for activated protein C resistance. DNA was analyzed for the factor V Leiden mutation. Five of 34 children (15%) had activated protein C resistance; each was heterozygous for the factor V Leiden mutation. All 5 children heterozygous for the factor V Leiden mutation suffered non-CNS venous thromboses comprising 21% of the group of children (5/24) with non-CNS venous thrombotic events. Each of these 5 children had a family history of thrombosis. In conclusion, children with non-CNS venous thrombosis should be evaluated for the factor V Leiden mutation. Children most likely affected are those with a family history of thrombosis. Am. J. Hematol. 57:29–32, 1998. © 1998 Wiley-Liss, Inc. 相似文献
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Akitoshi Kobayashi Hideaki Mizumoto Takeshi Ando Shoichi Matsutani 《Clinical journal of gastroenterology》2011,4(3):147-150
We report the case of a 52-year-old male who was admitted for sudden abdominal pain and hematochezia. Colonoscopy showed erosion
and edema in the mucosa of the descending colon, leading to a diagnosis of ischemic colitis. Blood tests revealed hepatic
dysfunctions. Using abdominal ultrasonography (US), thrombus was observed in the left branch of the portal vein and a part
of the right branch. Although the Doppler method detected blood flow in the right branch, no blood flow signal was observed
in the left branch. Since coagulation examinations were almost normal, and there was no past history of liver cirrhosis or
malignancy, it was diagnosed to be portal vein thrombosis (PVT) associated with ischemic colitis. Anticoagulation therapy
was initiated for PVT. According to the results of the US and abdominal computed tomography performed 3 months after starting
the treatment, thrombus in the right branch had diminished but remained in the umbilical region of the left branch. Due to
atrophy of the lateral segment of the liver, we terminated the treatment. Ischemic colitis is not a rare disease; however,
when accompanying hepatic dysfunction, it is necessary to take the complications associated with PVT into consideration. 相似文献
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Thirteen years after her last thrombotic event, anticoagulation was discontinued in a patient with combined thrombophilia involving mutation in factor V and G20210A polymorphism of the prothrombin gene. The only history was of arterial thrombosis. Three months later she presented a transmural myocardial infarction caused by coronary thrombosis. 相似文献
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Portal vein thrombosis associated with antiphospholipid syndrome 总被引:4,自引:0,他引:4
Received: April 25, 2000 / Accepted: October 6, 2000 相似文献