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antithrombin deficiency

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https://www.readbyqxmd.com/read/29623892/deep-venous-thrombosis-treated-by-rivaroxaban-in-a-young-patient-with-type-ia-carbohydrate-deficient-glycoprotein-cdg-syndrome
#1
Bertrand Lefrère, Alain Stepanian, Nathalie Itzhar-Baïkian, Perrine Charles, Arezki Hadj-Ali, Bérangère Joly, Martine Alhenc-Gelas, Ludovic Drouet, Agnès Veyradier, Virginie Siguret
Congenital disorders of glycosylation (CDG) are rare inborn diseases of glycan component of N-glycosylated proteins. We report here the case of a 28-year-old patient with CDG syndrome type Ia, who presented with a deep venous thrombosis in the left suro-popliteal vein with no known triggers or antecedents. The patient was treated with rivaroxaban for six months. Blood tests performed after discontinuing anticoagulant treatment showed multiple abnormalities affecting the proteins involved in haemostasis (both coagulation factors and inhibitors), i...
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29564838/identification-of-a-new-mechanism-of-antithrombin-deficiency-hardly-detected-by-current-methods-duplication-of-serpinc1-exon-6
#2
Belén de la Morena-Barrio, María Eugenia de la Morena-Barrio, José Padilla, Raúl Teruel-Montoya, Susana Asenjo, Ewa Wypasek, Anetta Undas, Antonia Miñano, Vicente Vicente, Javier Corral
No abstract text is available yet for this article.
March 21, 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29542734/correction-recurrent-mutations-in-a-serpinc1-hotspot-associate-with-venous-thrombosis-without-apparent-antithrombin-deficiency
#3
Wei Zeng, Bei Hu, Liang Tang, Yan-Yan You, Mara Toderici, Maria Eugenia de la Morena-Barrio, Javier Corral, Yu Hu
[This corrects the article DOI: 10.18632/oncotarget.21365.].
February 16, 2018: Oncotarget
https://www.readbyqxmd.com/read/29540887/neonatal-purpura-fulminans-a-rare-genetic-disorder-due-to-protein-c-deficiency-a-case-report
#4
Sayyeda Ghazala Irfan Kazi, Emaduddin Siddiqui, Irfan Habib, Saadia Tabassum, Badar Afzal, Irum Qamar Khan
Neonatal Purpura Fulminans is a rare and fatal disorder associated with perivascular haemorrhage and disseminated intravascular coagulation. Early clinical recognition, timely investigation and treatment is utmost important. A 6 days old baby boy was brought to emergency with blackish ulcers all over the body. Initially these were over the feet and scalp but later appeared on the abdomen. On examination, child was vitally stable, mildly icteric and had multiple erythematous large bullous blackish lesions on scalp, lower abdomen, perineum, back and soles...
March 2018: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29540648/acute-kidney-injury-in-a-case-of-purpura-fulminans-developing-secondary-to-antithrombin-3-deficiency
#5
Gülsüm Özkan, Gaye Kübra Emeksiz, Reşit Volkan Atar, Samet Sedef, Pınar Sonat Kara, Meltem Öznur, Burhan Turgut
Purpura fulminans associated with antithrombin 3 (AT 3) deficiency is very rare in adults and neonates. It can be categorized into three principal forms - neonatal, idiopathic and acute infectious. Purpura fulminans has been reported to cause cardiac, pulmonary and renal damage in rare cases. We describe an adult case of purpura fulminans developing in association with AT 3 deficiency without infection following a surgical procedure, and acute kidney injury (AKI) developing secondary to rhabdomyolysis and disseminated intravascular coagulation (DIC)...
2018: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29526957/efficacy-of-oral-factor-xa-inhibitor-for-venous-thromboembolism-in-a-patient-with-antithrombin-deficiency
#6
Kentaro Minami, Koji Kumagai, Yoshinao Sugai, Kohki Nakamura, Shigeto Naito, Shigeru Oshima
A 19-year-old man was referred due to sudden onset of right foot pain and chest discomfort. Contrast-enhanced computed tomography revealed massive thrombi in the right pulmonary artery and femoral vein. The patient's father had experienced multiple recurrences of venous thromboembolism (VTE) and was diagnosed with inherited antithrombin deficiency by a genetic examination. The patient was administered the oral factor Xa inhibitor rivaroxaban (30 mg). After seven days, the thrombus disappeared. Rivaroxaban (15 mg) was continued for 6 months with no recurrence, indicating the efficacy of this factor Xa inhibitor for the treatment and prevention of VTE in patients with antithrombin deficiency...
March 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29523337/inherited-thrombophilia-and-pregnancy-loss-study-of-an-argentinian-cohort
#7
Silvia Perés Wingeyer, Federico Aranda, Sebastián Udry, José Latino, Gabriela de Larrañaga
BACKGROUND AND OBJECTIVES: Thrombophilia might increase the risk of suffering from obstetric complications by adversely affecting the normal placental vascular function. Our aim was to study the distributions of five thrombosis-associated genetic variants: factor V Leiden, prothrombin G20210A, -675 4G/5G PAI-1, 10034C/T gamma fibrinogen and 7872C/T factor XI and the frequencies of the deficiencies of protein C, S and antithrombin in Argentinian patients with recurrent pregnancy loss (RPL) and, therefore, to analyse their association with the risk and timing of RPL and the risk of suffering other vascular obstetric pathologies...
March 6, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29518638/thrombophilia-testing-in-children-what-and-when-should-be-tested
#8
REVIEW
Ulrike Nowak-Göttl, Heleen van Ommen, Gili Kenet
Venous thrombosis (VTE) in children is gaining increased awareness and apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of inherited thrombophilic risk factors (IT), such as protein C-, protein S- and antithrombin deficiency, mutations of factor 5 (F5: rs6025) and factor 2 (F2: rs1799963), even more pronounced when combined IT were involved. Although we have learned more about the pathophysiology of VTE with the increased discovery of IT evidence is still lacking as to whether IT influence the clinical outcome in pediatric VTE...
February 21, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29515697/asymptomatic-isolated-calf-deep-vein-thrombosis-does-it-worsen-after-varicose-vein-surgery
#9
Sadaaki Horiguchi, Hisako Ono, Hiroyuki Shirato, Toshimitsu Kawakami, Shiho Yabuki, Naomi Morita, Nozomu Shirasugi
In our varicose vein center, on a trial basis, among the patients with asymptomatic calf deep vein thrombosis (CDVT) we carefully selected the patients for varicose vein surgery using the requirements as follows; 1) the patients had varicose veins with incompetent saphenous veins, 2) sequential examination including DUS confirmed stability and clinical insignificance of asymptomatic CDVT, 3) the patients do not have any risk factors for DVT such as a coagulation profile disorder (antithrombin deficiency, protein C deficiency, protein S deficiency, or antiphospholipid syndrome) or malignancies, 4) surgery is possible under local anesthesia alone, and 5) the patients can understand the concept of asymptomatic CDVT and undergo the surgery on their own will and informed consent...
December 25, 2017: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29458015/sulfenamide-and-sulfonamide-derivatives-of-metformin-can-exert-anti-coagulant-and-pro-fibrinolytic-properties
#10
Magdalena Markowicz-Piasecka, Kristiina M Huttunen, Łukasz Mateusiak, Elżbieta Mikiciuk-Olasik, Joanna Sikora
Type 2 diabetes mellitus (T2DM) is characterised not only by hyperglycaemia and insulin resistance but also an impaired balance between the processes of coagulation and fibrinolysis. The aim of this study was to examine the effects of metformin, a widely-used oral anti-diabetic drug, phenformin and eight sulfenamide and sulfonamide derivatives of metformin on several haemostasis parameters. Thrombin Time (TT) tests were performed according to the available commercial method. The activity of factor X was conducted based on deficient plasma factor X...
February 16, 2018: Chemico-biological Interactions
https://www.readbyqxmd.com/read/29452444/risk-of-venous-thrombosis-in-antithrombin-deficiency-a-systematic-review-and-bayesian-meta-analysis
#11
F Nanne Croles, Jaime Borjas-Howard, Kazem Nasserinejad, Frank W G Leebeek, Karina Meijer
Antithrombin deficiency is a strong risk factor for venous thromboembolism (VTE), but the absolute risk of the first and recurrent VTE is unclear. The objective of this paper is to establish the absolute risks of the first and recurrent VTE and mortality in individuals with antithrombin deficiency. The databases Embase, Medline Ovid, Web of Science, the Cochrane Library, and Google Scholar were systematically searched for case-control and cohort studies. Bayesian random-effects meta-analysis was used to calculate odds ratios (ORs), absolute risks, and probabilities of ORs being above thresholds...
February 16, 2018: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29402471/direct-oral-anticoagulant-use-in-patients-with-thrombophilia-antiphospholipid-syndrome-or-venous-thrombosis-of-unusual-sites-a-narrative-review
#12
REVIEW
Laurent Bertoletti, Ygal Benhamou, Yannick Béjot, Sylvestre Marechaux, Saida Cheggour, Boris Aleil, Nicolas Lellouche, Jean-Guillaume Dillinger, Aurélien Delluc
Direct oral anticoagulants (DOACs) are indicated in the treatment and prevention of venous thromboembolism (VTE). However, the use of DOACs in unusual VTE, including cerebral venous thrombosis (CVT) and splanchnic venous thrombosis (SVT), and in patients with biological thrombophilia including minor thrombophilia (Factor V Leiden and prothrombin G20210A), major innate thrombophilia (protein C and S deficiency, and antithrombin) and major acquired thrombophilia (antiphospholipid syndrome [APS]), remains controversial due to the paucity of available data...
February 2, 2018: Blood Reviews
https://www.readbyqxmd.com/read/29399079/rivaroxaban-for-the-treatment-of-venous-thromboembolism-in-patients-with-nephrotic-syndrome-and-low-at-iii-a-pilot-study
#13
Lihua Zhang, Haitao Zhang, Jiong Zhang, Hong Tian, Ju Liang, Zhihong Liu
The anticoagulation effect of heparin requires adequate serum antithrombin (AT)-III levels. Rivaroxaban, however, exhibits its anticoagulation effects independent of AT-III. The aim of the present study was to evaluate the efficacy and safety of rivaroxaban as a treatment for venous thromboembolism in patients with AT-III deficiency due to nephrotic syndrome. Patients with nephrotic syndrome and low serum concentration and functional activity of AT-III and venous thromboembolism were randomly assigned to the rivaroxaban group (n=8) and low weight molecular heparin group (n=8)...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29378360/activated-factor-x-based-versus-thrombin-based-antithrombin-testing-in-thrombophilia-workup-in-the-doac-era
#14
Heiko Rühl, Sara Reda, Jens Müller, Johannes Oldenburg, Bernd Pötzsch
Antithrombin (AT) activity tests are used for diagnosing hereditary AT deficiency, a main genetic determinant of thrombophilia. They are either based on inhibition of thrombin (FIIa) or activated factor X (FXa). FXa-based assays have been suggested to be preferable to FIIa-based assays due to their higher sensitivity for certain AT deficiency causing mutations. To assess the performance of these two methods in a real-world scenario, 745 consecutively collected samples from patients referred to our institute during a 3-month period for thrombophilia testing were analysed...
February 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29377625/mild-antithrombin-deficiency-and-risk-of-recurrent-venous-thromboembolism-results-from-the-mega-follow-up-study
#15
Juraj Sokol, Jasmijn F Timp, Saskia le Cessie, Astrid van Hylckama-Vlieg, Frits R Rosendaal, Peter Kubisz, Suzanne Cannegieter, Willem M Lijfering
BACKGROUND: Mild antithrombin deficiency (previously defined as antithrombin activity below 70% or 80%) has been associated with a 2.4-3.5-fold increased risk of recurrent venous thromboembolism (VTE). This finding may have implications for duration of antithrombotic therapy in VTE patients with mild antithrombin deficiency. OBJECTIVES: To externally validate whether mild antithrombin deficiency is a risk. factor for recurrent VTE. METHODS: In a population based cohort study, patients with a first VTE (n=2357) were stratified according to percentile cut-off antithrombin levels (<5th [<87%], 5-10th [87-92%], >10th percentile [>92%]) and functional antithrombin levels (<70%, 70-80%, >80%)...
January 28, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29369598/a-case-of-hereditary-thrombophilia-in-a-chinese-han-patient-with-both-antithrombin-deficiency-and-factor-v-leiden-a-case-report-and-literature-review
#16
(no author information available yet)
Hereditary thrombophilia is a blood coagulation disorder that increases the risk of venous thromboembolism, due to several genetic risk factors. Factor V Leiden(FVL) is the most common contributing factor to thrombophilia in the Caucasian population but very rare in Asian population and concurrent occurrence of antithrombin(AT) deficiency and FVL in Chinese Han population is even more rare. We report the case of a 22-year-old female who experienced recurrent intracranial venous thromboses, furthermore, color Doppler ultrasound showed multiple extracranial thromboses...
December 25, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29353463/protective-effect-of-a-newly-developed-fucose-deficient-recombinant-antithrombin-against-histone-induced-endothelial-damage
#17
Toshiaki Iba, Tatsuhiko Hirota, Koichi Sato, Isao Nagaoka
Antithrombin is expected to modulate both prothrombotic and proinflammatory reactions in sepsis; vascular endothelium is the primary target. In the present study, we sought to evaluate the protective effects of a newly developed fucose-deficient recombinant antithrombin. Endothelial cells were treated in vitro with histone H4 to induce cellular damage. Low to high doses of either plasma-derived antithrombin or recombinant thrombomodulin were used as treatment interventions. Morphological change, apoptotic rate, cell viability, cell injury, and syndecan-4 level in the medium were evaluated...
January 20, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29296762/whole-exome-sequencing-in-evaluation-of-patients-with-venous-thromboembolism
#18
Eun-Ju Lee, Daniel J Dykas, Andrew D Leavitt, Rodney M Camire, Eduard Ebberink, Pablo García de Frutos, Kavitha Gnanasambandan, Sean X Gu, James A Huntington, Steven R Lentz, Koen Mertens, Christopher R Parish, Alireza R Rezaie, Peter P Sayeski, Caroline Cromwell, Noffar Bar, Stephanie Halene, Natalia Neparidze, Terri L Parker, Adrienne J Burns, Anne Dumont, Xiaopan Yao, Cassius Iyad Ochoa Chaar, Jean M Connors, Allen E Bale, Alfred Ian Lee
Genetics play a significant role in venous thromboembolism (VTE), yet current clinical laboratory-based testing identifies a known heritable thrombophilia (factor V Leiden, prothrombin gene mutation G20210A, or a deficiency of protein C, protein S, or antithrombin) in only a minority of VTE patients. We hypothesized that a substantial number of VTE patients could have lesser-known thrombophilia mutations. To test this hypothesis, we performed whole-exome sequencing (WES) in 64 patients with VTE, focusing our analysis on a novel 55-gene extended thrombophilia panel that we compiled...
July 11, 2017: Blood Advances
https://www.readbyqxmd.com/read/29238798/association-between-hypercoagulable-conditions-and-calciphylaxis-in-patients-with-renal-disease-a-case-control-study
#19
Allison S Dobry, Lauren N Ko, Jessica St John, J Mark Sloan, Sagar Nigwekar, Daniela Kroshinsky
Importance: Calciphylaxis is a rare skin disease with high morbidity and mortality that frequently affects patients with renal disease. Hypercoagulable conditions are frequently observed in both patients with calciphylaxis and those with chronic kidney disease (CKD), complicating our understanding of which hypercoagulable conditions are specific to calciphylaxis. Objective: To identify hypercoagulable conditions that are risk factors for developing calciphylaxis while controlling for CKD...
February 1, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29236713/sirt3-deficiency-does-not-affect-venous-thrombosis-or-netosis-despite-mild-elevation-of-intracellular-ros-in-platelets-and-neutrophils-in-mice
#20
Hideki Hayashi, Deya Cherpokova, Kimberly Martinod, Thilo Witsch, Siu Ling Wong, Maureen Gallant, Stephen M Cifuni, Leonard P Guarente, Denisa D Wagner
Inflammation is a common denominator in chronic diseases of aging. Yet, how inflammation fuels these diseases remains unknown. Neutrophils are the primary leukocytes involved in the early phase of innate immunity and inflammation. As part of their anti-microbial defense, neutrophils form extracellular traps (NETs) by releasing decondensed chromatin lined with cytotoxic proteins. NETs have been shown to induce tissue injury and thrombosis. Here, we demonstrated that Sirt3, a nicotinamide adenine dinucleotide (NAD+)-dependent protein deacetylase, an enzyme linked to human longevity, was expressed in mouse neutrophils and platelets...
2017: PloS One
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