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antithrombin deficiency

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https://www.readbyqxmd.com/read/29040284/the-prevalence-and-clinical-manifestation-of-hereditary-thrombophilia-in-korean-patients-with-unprovoked-venous-thromboembolisms
#1
Su Yeon Lee, Eun Kyoug Kim, Min Sun Kim, Sun Hye Shin, Haseong Chang, Shin Yi Jang, Hee-Jin Kim, Duk-Kyung Kim
BACKGROUND: Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We investigated the incidence and clinical characteristics of HT in Korean patients with unprovoked venous thromboembolism (VTE). METHODS: Among 369 consecutive patients with thromboembolic event who underwent thrombophilia tests, we enrolled 222 patients diagnosed with unprovoked VTE. The presence of HT was confirmed by DNA sequencing of the genes that cause deficits in natural anticoagulants (NAs)...
2017: PloS One
https://www.readbyqxmd.com/read/28978853/idiopathic-thrombosis
#2
Hiroko Tsuda
Idiopathic thrombosis involves a group of inherited thrombophilia predisposed to severe thrombosis of early onset and associated with an adverse outcome due to recurrence, and therefore, requires long-term anticoagulation therapy. The causative factors of a predisposition to thrombosis include immobility, dehydration, infection, surgery, injury, cancer, pregnancy, and estrogen use. The inherited deficiencies of antithrombin (AT), protein C (PC), and protein S (PS) are specified as "Specific Pediatric Chronic Diseases...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28961453/in-vitro-exploration-of-latent-prothrombin-mutants-conveying-antithrombin-resistance
#3
Shogo Tamura, Moe Murata-Kawakami, Yuki Takagi, Sachiko Suzuki, Akira Katsumi, Akira Takagi, Tetsuhito Kojima
INTRODUCTION: Antithrombin resistance (ATR) prothrombinemia is an inherited thrombophilic disorder caused by missense mutations in prothrombin gene (F2) at Arg596 of the sodium-binding region. Previously, prothrombin mutants Yukuhashi (Arg596Leu), Belgrade (Arg596Gln), and Padua 2 (Arg596Trp) were reported as ATR-prothrombins possessing a risk of familial venous thrombosis. To identify additional F2 mutations causing the ATR-phenotype, we investigated the coagulant properties of recombinant prothrombins mutated at amino acid residues within the sodium-binding region by single nucleotide substitutions (Thr540, Arg541, Glu592, and Lys599)...
September 20, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28933640/the-impact-of-antithrombin-deficiency-on-women-s-reproductive-health-experiences-and-healthcare-decision-making
#4
Ariela L Marshall, Juliana Perez Botero, Aneel A Ashrani, Rajiv K Pruthi, John A Heit, Ashish Chintakuntlawar, Jennifer C Guenther, Mrinal M Patnaik
BACKGROUND: Women with inherited antithrombin (AT) deficiency are at high risk for venous thromboembolism (VTE), especially during times of estrogen exposure, but little is known about patient-oriented reproductive decision-making in this population. MATERIALS AND METHODS: Provider-administered survey of women with AT deficiency. Participants were asked to discuss their diagnosis of AT deficiency and questioned about (1) contraception, (2) pregnancies, and (3) menorrhagia, and the impact of their AT deficiency on each reproductive health experience...
September 21, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28892658/homozygous-antithrombin-deficiency-type-ii-causing-neonatal-thrombosis
#5
Vanessa Swoboda, Katharina Zervan, Katharina Thom, Christine Mannhalter, Peter Quehenberger, Ingrid Pabinger, Christoph Male
We report four children from different families with homozygous antithrombin (AT) deficiency type II affecting the heparin binding site (p.Leu131Phe mutation). All children had severe spontaneous venous and/or arterial thromboembolic events shortly after birth. This report intends to raise awareness among clinicians about this rare but severe condition. When thrombosis occurs in an otherwise healthy newborn, a severe congenital thrombophilic disorder should be considered. In homozygous AT deficiency type II, AT activity is typically reduced but may also be in the normal range, posing a diagnostic challenge...
September 4, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28877605/obesity-paradox-in-patients-with-deep-venous-thrombosis
#6
Ayman El-Menyar, Mohammad Asim, Hassan Al-Thani
We aimed to investigate the association between obesity and deep venous thrombosis (DVT) in a country with a high prevalence of obesity. This is a retrospective cohort study of patients who presented with DVT between 2008 and 2012. Data were analyzed and compared based on body mass index (BMI), and patients were classified into normal (<25), overweight (≥25 to <30), obese I (30 to <35), obese II (35 to <40), and obese III (≥40). Among 662 patients with DVT, 28% were overweight and 49% were obese...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28866705/familial-antithrombin-iii-deficiency-in-a-malay-patient-with-massive-thrombosis
#7
W S Wan Ab Rahman, W Z Abdullah, M N Hassan, A Hussin, Z Zulkafli, J Haron
Patients with low antithrombin III (AT III) has increased risk for arteriovenous thromboembolic (TE) disease. We report a 28-year-old Malay lady who presented with spontaneous right calf pain and swelling of one week duration. She was on oral contraceptive pills and had a history of travelling for a long distance prior to the presentation. Her brother who was diagnosed with AT III deficiency had arterial thrombosis at a young age. She was diagnosed as having right popliteal vein thrombosis by ultrasound and treated with subcutaneous fondaparinux...
August 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28865216/coagulology-biochemical-profile-and-muscle-pathology-in-calves-diagnosed-with-nutritional-muscular-dystrophy
#8
K Żarczyńska, W Baumgartner, P Sobiech
The aim of this study was to explain the correlations between selenium deficiency, hemostatic and biochemical disorders, and the progression of pathological changes in calves diagnosed with nutritional muscular dystrophy (NMD). The study was performed on 20 calves with supplementation of 8 ml selenium and vitamin E preparation and 20 calves with symptoms of NMD. Blood was sampled from calves aged 5, 12 and 19 days. On day 19, samples of the biceps femoris muscle were collected from 6 animals in each group for histopathological analysis...
March 1, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28863787/venous-thromboembolism-and-hyperhomocysteinemia-as-first-manifestation-of-pernicious-anemia-a-case-series
#9
W Ammouri, Z Mezalek Tazi, H Harmouche, M Maamar, M Adnaoui
BACKGROUND: Hyperhomocysteinemia has been suspected of favoring thrombosis. Several case-control studies and even a meta-analysis have confirmed a link between venous thrombosis and hyperhomocysteinemia. Homocysteine is due to genetic and acquired factors (poor diet in folate and vitamin B12, older age, renal impairment, thyroid diseases, and malignancies) induced by the intake and the concentrations of vitamin B9 or B12 in the majority of cases. CASES PRESENTATION: We report the cases of four Moroccan patients who presented with acute vein thrombosis of different sites: a 34-year-old man, a 60-year-old man, a 58-year-old man, and a 47-year-old woman...
September 2, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28861852/antithrombin-deficiency-and-decreased-protein-c-activity-in-a-young-man-with-venous-thromboembolism-a-case-report
#10
Dong Wang, Min Tian, Guanglin Cui, Dao Wen Wang
Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of PROC and SERPINC1 were conducted for the patient and his family members...
August 31, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28805957/stroke-or-left-atrial-thrombus-prediction-using-antithrombin-iii-and-mean-platelet-volume-in-patients-with-nonvalvular-atrial-fibrillation
#11
Seo-Won Choi, Bo-Bae Kim, Dong-Hyun Choi, Geon Park, Byung Chul Shin, Heesang Song, DongHun Kim, Dong-Min Kim
BACKGROUND: CHADS2 (congestive heart failure, hypertension, age ≥ 75 years, diabetes mellitus, stroke) and CHA2 DS2 -VASc (congestive heart failure, hypertension, age ≥ 75 years, diabetes mellitus, stroke, vascular disease, age 65 to 74 years, sex category) scores showed just moderate discrimination ability in predicting thromboembolic complications in patients with nonvalvular atrial fibrillation (AF). HYPOTHESIS: To determine the association of antithrombin III (AT-III) deficiency and mean platelet volume (MPV) with the development of stroke or left atrial (LA) thrombus in patients with AF...
August 14, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#12
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28801334/family-with-clots-antithrombin-deficiency
#13
Samer Al Hadidi, Kristi Wu, Ahmed Aburahma, Zain Alamarat
No abstract text is available yet for this article.
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28794370/the-successful-prevention-of-thromboembolism-using-rivaroxaban-in-a-patient-with-antithrombin-deficiency-during-the-perioperative-period
#14
Hidetsugu Kawai, Hiromichi Matsushita, Hiroshi Kawada, Yoshiaki Ogawa, Kiyoshi Ando
Antithrombin (AT) deficiency, a rare disorder of the coagulation system, is a serious risk factor for thromboembolism. Approximately 50-90% of patients with AT deficiency develop thromboembolism during their lifetime. In addition, surgery is a major risk factor for thromboembolism in these patients. We herein report the case of a 90-year-old woman with AT deficiency who was safely and successfully managed using rivaroxaban (a direct oral factor Xa inhibitor) during the perioperative period of surgery for right femur fracture...
September 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28792912/adverse-pregnancy-outcomes-and-inherited-thrombophilia
#15
Dominik Dłuski, Radzisław Mierzyński, Elżbieta Poniedziałek-Czajkowska, Bożena Leszczyńska-Gorzelak
AIM: (1) To evaluate the prevalence of inherited thrombophilia in pregnant women with adverse pregnancy outcomes: intrauterine growth retardation (IUGR), preeclampsia (PE) and placental abruption. (2) To assess the impact of inherited thrombophilia on the nature of obstetric complications. (3) To assess levels of protein S, protein C, antithrombin III and homocysteine in pregnant women with adverse pregnancy outcomes. SUBJECTS AND METHODS: The study comprised 162 pregnant women...
August 9, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28783511/antithrombin-debrecen-p-leu205pro-clinical-and-molecular-characterization-of-a-novel-mutation-associated-with-severe-thrombotic-tendency
#16
Anna Selmeczi, Réka Gindele, Péter Ilonczai, Attila Fekete, István Komáromi, Ágota Schlammadinger, Katalin Rázsó, Kitti B Kovács, Helga Bárdos, Róza Ádány, László Muszbek, Zsuzsanna Bereczky, Zoltán Boda, Zsolt Oláh
INTRODUCTION: Hereditary antithrombin (AT) deficiency is a rare thrombophilic disorder with heterogeneous genetic background and various clinical presentations. In this study we identified a novel AT mutation. Genotype-phenotype correlations, molecular characteristics and thrombotic manifestations of the mutation were investigated. MATERIALS AND METHODS: Thirty-one members of a single family were included. Clinical data was collected regarding thrombotic history...
July 24, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28743742/disease-causing-mutations-in-the-serpin-antithrombin-reveal-a-key-domain-critical-for-inhibiting-protease-activities
#17
Sonia Águila, Gonzalo Izaguirre, Irene Martínez-Martínez, Vicente Vicente, Steven T Olson, Javier Corral
Antithrombin mainly inhibits factor Xa and thrombin. The reactive center loop (RCL) is crucial for its interactions with its protease targets and is fully inserted into the A-sheet after its cleavage, causing translocation of the covalently linked protease to the opposite end of the A-sheet. Antithrombin variants with altered RCL hinge residues behave as substrates rather than inhibitors, resulting in stoichiometries of inhibition greater than one. Other antithrombin residues have been suggested to interfere with RCL insertion or the stability of the antithrombin-protease complex, but available crystal structures or mutagenesis studies have failed to identify such residues...
October 6, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28706112/workup-for-perinatal-stroke-does-not-predict-recurrence
#18
Laura L Lehman, Jeanette Beaute, Kush Kapur, Amy R Danehy, Miya E Bernson-Leung, Hayley Malkin, Michael J Rivkin, Cameron C Trenor
BACKGROUND AND PURPOSE: Perinatal stroke, including neonatal and presumed perinatal presentation, represents the age in childhood in which stroke occurs most frequently. The roles of thrombophilia, arteriopathy, and cardiac anomalies in perinatal ischemic stroke are currently unclear. We took a uniform approach to perinatal ischemic stroke evaluation to study these risk factors and their association with recurrent stroke. METHODS: We reviewed records of perinatal stroke patients evaluated from August 2008 to February 2016 at a single referral center...
August 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28689083/management-of-hereditary-antithrombin-deficiency-in-pregnancy
#19
Andra H James, Shannon M Bates, Kenneth A Bauer, Ware Branch, Kenneth Mann, Michael Paidas, Neil Silverman, Barbara A Konkle
Antithrombin (AT) deficiency is a high-risk thrombophilia and a rare condition. Despite full anticoagulation during pregnancy and the postpartum period, women with AT deficiency may still be vulnerable to developing venous thromboembolism (VTE), including fatal events. There is limited guidance on the management of AT deficiency in pregnancy, including the role of AT concentrates. Following a comprehensive review of the state of the art with respect to recommendations and guidelines, our expert panel in maternal-fetal medicine, hematology and basic science reached consensus on key issues in the recognition and management of AT deficiency in pregnancy...
May 24, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28684050/thrombophilic-and-cardiovascular-risk-factors-for-retinal-vein-occlusion
#20
Paolo Bucciarelli, Serena M Passamonti, Francesca Gianniello, Andrea Artoni, Ida Martinelli
BACKGROUND: The role of thrombophilic and cardiovascular risk factors in different manifestations of retinal vein occlusion (RVO), i.e., central or branch RVO, and at different ages is still debated. AIMS: To evaluate the association between thrombophilic and cardiovascular risk factors and the risk of RVO (overall, separately for central and branch RVO, and at different ages). METHODS: Case-control study on 313 patients with a first objectively-confirmed RVO (216 central and 97 branch RVO) and 415 healthy individuals...
July 3, 2017: European Journal of Internal Medicine
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