Investigation of Plasminogen Activator Inhibitor‐1 (<scp>PAI</scp>‐1) 4G/5G promoter polymorphism in Indian venous thrombosis patients: A case‐control study

Prabhudesai, Aniket; Shetty, Shrimati; Ghosh, Kanjaksha; Kulkarni, Bipin

doi:10.1111/ejh.12912

Cited by 23 publications

(14 citation statements)

References 21 publications

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“…Reported data about the prevalence of this homozygous mutation are controversial. Based on several study, the PAI-1 4G/4G might be a risk factor, even more if is associated with other defects such as hyperhomocysteinemia, protein C or S deficiency or factor VIII hyperactivity -this also being present in our case (14). Regarding the MTHFR A1298C mutation, there was no study that could demonstrate the association with the thrombosis risk (13).…”

Section: Discussionmentioning

confidence: 75%

Alveolar rhabdomyosarcoma mimicking acute leukemia in an adolescent with deep venous thrombosis – case presentation

Vodă¹,

Leonte²,

Otelea³

et al. 2019

Ro J Pediatr.

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Rhabdomyosarcoma is the most common type of soft-tissue sarcoma, who invade and destroy nearby tissues. Rhabdomyosarcoma has defective myogenic differentiation and the alveolar subtype is the most aggressive, with hithgrade malignancy. We present the case of a 13-years-old girl, with a history of pain, functional impairment, red skin colour and swollen of the left thigh. The investigations have shown thrombosis on the left femoral and iliac vein, thrombosis that resulted from genetic predisposition together with the mechanisme of paraneoplastic thrombosis. The imagistic investigation documented retroperitoneal adenopathic masses encompassing the large vesels, gluteal and perianal mases, solid mass in the pancreatic head and multiple bone nodular lesions. The nonhematopoietic malignancies has masquerading acute leukemia on the bone marrow aspirate with atypical blasts (80% from cells population). The histological examination of the biopsy sample following excision of the left inguinal lymphadenopaty have revealed the final diagnosis: Stage IV alveolar rhabdomyosarcoma, with bone marrow infiltration and multiple metastases (inguinal, pelvic, periaortic, perihepatic), pancreatic and orbital metastases.

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Section: Discussionmentioning

confidence: 75%

Alveolar rhabdomyosarcoma mimicking acute leukemia in an adolescent with deep venous thrombosis – case presentation

Vodă¹,

Leonte²,

Otelea³

et al. 2019

Ro J Pediatr.

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“…A prospective large nationwide cohort study with sufficient number of patients with both MVT and systemic VTE is needed to evaluate differences in risk factor profiles of other thrombophilias than factor V Leiden and prothrombin mutation. Novel candidate markers for venous thrombosis such as plasminogen activator inhibitor-1 should then be considered in the test panel [ 18 , 19 ]. Since thrombophilia profiles may vary greatly in different populations [ 7 , 20 ], the fact that the compared cohorts are from the same population constitutes an important strength of the present study.…”

Section: Discussionmentioning

confidence: 99%

Clinical implications of different risk factor profiles in patients with mesenteric venous thrombosis and systemic venous thromboembolism: a population-based study

Salim

Zarrouk

Elf

et al. 2019

J Thromb Thrombolysis

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It is unknown whether the risk factor profile for mesenteric venous thrombosis (MVT) is different from systemic venous thromboembolism (VTE). The aim of the present population-based study was to compare acquired and inherited risk factors in MVT versus VTE. Identification of all MVT patients at Skåne University Hospital between 2000 and 2015 was performed in patient records and AuriculA (Swedish anticoagulation registry). VTE patients were retrieved from the Malmö Thrombophilia Study (MATS), including 1465 consecutive unselected VTE patients between 1998 and 2008. Patients with MVT (n = 120) were younger (p < 0.001), had higher glomerular filtration rate (p < 0.001), lower smoking rate (p < 0.001), and had less often undergone recent surgery (p = 0.025). The prevalence of solid cancer (19.2% in MVT versus 12.1% in VTE; p = 0.026) and intra-abdominal cancer (16.7% versus 2.3%; p < 0.001) were higher in MVT. The prevalence of factor V Leiden mutation without presence of cancer was lower in MVT compared to VTE (26.6% versus 38.9%; p = 0.031). Thirty-day mortality was higher in the MVT group (9.2% versus 0.6%; p < 0.001), but did not differ at long-term follow-up according to Kaplan–Meier analysis (p = 0.73). Patients with MVT have a higher prevalence of cancer and lower prevalence of factor V Leiden mutation than those with systemic VTE. Intra-abdominal cancer should be excluded in MVT patients, and the high prevalence of factor V Leiden mutation in patients without cancer in both groups suggests that screening for thrombophilia in patients without cancer should be considered in this population for both groups.

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“…DVT is a common disease caused by genetic factors and a variety of external factors, and the genetic factors are more significant in DVT [5][6][7]. There are several risk factors in the process of the formation of DVT [8,9]. In recent years, some studies have confirmed that coagulation factor VG1691A gene polymorphism (FV Leien mutation), the polymorphism of prothrombin gene G20210A and the polymorphism of MTHFR gene C677T are closely related to white and Indian DVT [10][11][12][13][14].…”

Section: Discussionmentioning

confidence: 99%

The relationship between gene polymorphism of MTRR A66G and lower extremity deep venous thrombosis

Zhou

2018

Hematology

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Investigation of Plasminogen Activator Inhibitor‐1 (PAI‐1) 4G/5G promoter polymorphism in Indian venous thrombosis patients: A case‐control study

Abstract: PAI-1 4G/4G is a strong risk factor for venous thrombosis in Indian patients and should be included in laboratory testing panel of thrombophilia.

Cited by 23 publications

References 21 publications

Alveolar rhabdomyosarcoma mimicking acute leukemia in an adolescent with deep venous thrombosis – case presentation

Alveolar rhabdomyosarcoma mimicking acute leukemia in an adolescent with deep venous thrombosis – case presentation

Clinical implications of different risk factor profiles in patients with mesenteric venous thrombosis and systemic venous thromboembolism: a population-based study

The relationship between gene polymorphism of MTRR A66G and lower extremity deep venous thrombosis

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