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antithrombin deficiency

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https://www.readbyqxmd.com/read/29238798/association-between-hypercoagulable-conditions-and-calciphylaxis-in-patients-with-renal-disease-a-case-control-study
#1
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...
December 13, 2017: 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
#2
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
https://www.readbyqxmd.com/read/29153735/clinical-and-laboratory-characteristics-of-antithrombin-deficiencies-a-large-cohort-study-from-a-single-diagnostic-center
#3
Réka Gindele, Anna Selmeczi, Zsolt Oláh, Péter Ilonczai, György Pfliegler, Erzsébet Marján, László Nemes, Ágnes Nagy, Hajna Losonczy, Gorana Mitic, Mirjana Kovac, Gábor Balogh, István Komáromi, Ágota Schlammadinger, Katalin Rázsó, Zoltán Boda, László Muszbek, Zsuzsanna Bereczky
INTRODUCTION: Inherited antithrombin (AT) deficiency is a heterogeneous disease. Due to low prevalence, only a few studies are available concerning genotype-phenotype associations. The aim was to describe the clinical, laboratory and genetic characteristics of AT deficiency in a large cohort including children and to add further laboratory data on the different sensitivity of functional AT assays. PATIENTS AND METHODS: Non-related AT deficient patients (n=156) and their family members (total n=246) were recruited...
October 31, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/29150108/economy-class-syndrome-what-is-it-and-who-are-the-individuals-at-risk
#4
Luci Maria SantAna Dusse, Marcos Vinícius Ferreira Silva, Letícia Gonçalves Freitas, Milena Soriano Marcolino, Maria das Graças Carvalho
The term 'economy class syndrome' refers to the occurrence of thrombotic events during long-haul flights that mainly occur in passengers in the economy class of the aircraft. This syndrome results from several factors related to the aircraft cabin (immobilization, hypobaric hypoxia and low humidity) and the passenger (body mass index, thrombophilia, oral contraceptives or hormone replacement therapy, cancer), acting together to predispose to excessive blood coagulation, which can result in venous thromboembolism...
October 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/29137435/recurrent-mutations-in-a-serpinc1-hotspot-associate-with-venous-thrombosis-without-apparent-antithrombin-deficiency
#5
Wei Zeng, Bei Hu, Liang Tang, Yan-Yan You, Mara Toderici, Maria Eugenia de la Morena-Barrio, Javier Corral, Yu Hu
Despite the essential anticoagulant function of antithrombin and the high risk of thrombosis associated with its deficiency, the prevalence of antithrombin deficiency among patients with venous thromboembolism (VTE) is very low. However, increasing evidence suggests that antithrombin deficiency may be underestimated. The analysis of SERPINC1, the gene encoding antithrombin, in 1,304 consecutive Chinese VTE patients and 1,334 healthy controls revealed a hotspot involving residues 294 and 295 that severely increases the risk of VTE...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29074563/pregnancy-thrombophilia-and-the-risk-of-a-first-venous-thrombosis-systematic-review-and-bayesian-meta-analysis
#6
REVIEW
F Nanne Croles, Kazem Nasserinejad, Johannes J Duvekot, Marieke Jha Kruip, Karina Meijer, Frank Wg Leebeek
Objective To provide evidence to support updated guidelines for the management of pregnant women with hereditary thrombophilia in order to reduce the risk of a first venous thromboembolism (VTE) in pregnancy.Design Systematic review and bayesian meta-analysis.Data sources Embase, Medline, Web of Science, Cochrane Library, and Google Scholar from inception through 14 November 2016.Review methods Observational studies that reported on pregnancies without the use of anticoagulants and the outcome of first VTE for women with thrombophilia were eligible for inclusion...
October 26, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29071478/gene-analysis-of-inherited-antithrombin-deficiency-and-functional-analysis-of-abnormal-antithrombin-protein-n87d
#7
Sayaka Kamijima, Akiko Sekiya, Mao Takata, Haruka Nakano, Morika Murakami, Tomonori Nakazato, Hidesaku Asakura, Eriko Morishita
Inherited antithrombin (AT) deficiency is one of the most clinically significant forms of congenital thrombophilia and follows an autosomal dominant mode of inheritance. We analyzed SERPINC1 in a patient who developed deep-vein thrombosis and low AT activity during pregnancy, and identified a novel missense mutation c.259A>G (p.Asn87Asp; N87D). Surprisingly, analysis of the parents' DNA showed that they did not possess this mutant, and thus, it may have been due to a de novo mutation. We also expressed this mutant AT protein in COS-1 cells and compared its intracellular localization and intracellular and extracellular antigen levels with that of wild-type AT...
October 25, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29063359/heparin-coumarin-protein-c-antithrombin-fibrinolysis-and-other-clotting-related-resistances-old-and-new-concepts-in-blood-coagulation
#8
REVIEW
A Girolami, E Cosi, S Ferrari, B Girolami
The concept of resistance in blood coagulation has become important. In the past it was limited to the resistance shown by some patients to heparin, coumarin or aspirin. Subsequently, it was demonstrated that a mutation in a single clotting factor, FV, showed resistance to activated protein C. Since activated protein C is supposed to downregulate aFV and aFVIII, their persistence in the circulation gives origin to a hypercoagulable state. Recently antithrombin resistance has been defined. Several prothrombin abnormalities (dysprothrombinemias) have been shown to be resistant to the action of antithrombin...
October 23, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29040284/the-prevalence-and-clinical-manifestation-of-hereditary-thrombophilia-in-korean-patients-with-unprovoked-venous-thromboembolisms
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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