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https://www.readbyqxmd.com/read/28208204/thrombophilic-evaluation-in-patients-with-acute-pulmonary-embolism
#1
Scott M Stevens, Jack E Ansell
Patients with acute pulmonary embolism (PE) are often tested for thrombophilias, which are hereditary and acquired conditions that predispose to thrombosis. If a hereditary condition is identified, then testing is often performed on members of the patient's family. Testing for these conditions can be complex, as the presence of acute thrombosis and antithrombotic therapies can make the results of many tests unreliable. Many risk factors for thrombosis exist that are not routinely assessed by laboratory testing, and it is likely that many hereditary thrombophilia conditions remain to be discovered...
February 2017: Seminars in Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28203409/practice-patterns-in-venous-thromboembolism-vte-prophylaxis-in-thoracic-surgery-a-comprehensive-canadian-delphi-survey
#2
John Agzarian, Lori-Ann Linkins, Laura Schneider, Waël C Hanna, Christian J Finley, Colin Schieman, Marc De Perrot, Mark Crowther, James Douketis, Yaron Shargall
BACKGROUND: The incidence of venous thromboembolic events (VTE) after resection of thoracic malignancies can reach 15%, but prophylaxis guidelines are yet to be established. We aimed to survey Canadian practitioners regarding perioperative risk factors for VTE, impact of those factors on extended prophylaxis selection, type of preferred prophylaxis, and timing of initiation and duration of thromboprophylaxis. METHODS: A modified Delphi survey was undertaken over three rounds with thoracic surgeons, thoracic anesthesiologists and thrombosis experts across Canada...
January 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28196919/estimates-of-within-subject-biological-variation-of-protein-c-antithrombin-protein-s-free-protein-s-activity-and-activated-protein-c-resistance-in-pregnant-women
#3
Ann H Kristoffersen, Per H Petersen, Thomas R Raas, Sverre Sandberg
BACKGROUND: In pregnancy, interpretation of results from coagulation parameters can be difficult because of the procoagulant physiological changes. The aim of this study was to describe the course of 5 coagulation parameters (thrombophilia markers) in healthy pregnancies, and to estimate and compare the within-subject biological variation (CVI) of these parameters in healthy pregnant and nonpregnant women. METHODS: Blood samples were obtained every 4th week during pregnancy and 3 samples after delivery in 20 healthy women and every 4th week during 40 weeks in 19 healthy nonpregnant women...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28194181/simultaneous-left-ventricular-and-deep-vein-thrombi-caused-by-protein-c-deficiency
#4
Harufumi Maki, Motohiro Nishiyama, Motoaki Shirakawa
Protein C deficiency is a risk of venous thrombosis because of poor fibrinolytic activity. It remains controversial whether protein C deficiency causes arterial thrombosis. A 21-year-old woman was referred with a chief complaint of right leg pain and numbness. Contrast-enhanced computed tomography revealed a low-density mass in the left ventricle (LV), splenic infarction, and peripheral arterial obstructions in her right leg. Thrombosis extending from the renal vein to the inferior vena cava was also detected...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28185002/-multiple-thrombophilic-risk-markers-in-patients-%C3%A2-%C2%BA65%C3%A2-years-of-age-with-retinal-vein-occlusion
#5
C Kuhli-Hattenbach, P Hellstern, W Miesbach, T Kohnen, L-O Hattenbach
BACKGROUND: The potential impact of multiple thrombophilic defects on retinal venous occlusive (RVO) diseases with regard to age and various risk factors has not been studied extensively. MATERIALS AND METHODS: In a retrospective, multicenter study, thrombophilia data of 128 patients <65 years of age with RVO and 110 healthy subjects were evaluated. The main measure outcome was the prevalence of multiple thrombophilic disorders. RESULTS: Multiple thrombophilic defects were significantly more prevalent among RVO patients (18...
February 9, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28179211/primary-thrombophilia-in-m%C3%A3-xico-xii-miscarriages-are-more-frequent-in-persons-with-the-sticky-platelet-syndrome-sps
#6
Guillermo J Ruiz-Delgado, Yahveth Cantero-Fortiz, Mariana A Mendez-Huerta, Mónica Leon-Gonzalez, Ana K Nuñez-Cortes, Andrés A Leon-Peña, Juan Carlos Olivares-Gazca, Guillermo J Ruiz-Argüelles
BACKGROUND: The sticky platelet syndrome (SPS) is an inherited condition which leads into arterial and venous thrombosis. There is scant information about the association between the SPS and obstetric complications. OBJECTIVE: To assess the relationship of the SPS and fetal loss in a single institution. MATERIALS AND METHODS: The obstetric history of all the consecutive female patients prospectively studied along a 324 month period, in a single institution with a history of thrombosis and a clinical marker of primary thrombophilia was reviewed...
February 9, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28177278/does-spontaneous-remission-occur-in-polyarteritis-nodosa-%C3%A2
#7
Simon Beyaert, Menno Pruijm, Salah Dine Qanadli, Peter Vollenweider, Matthieu Halfon
BACKGROUND: Polyarteritis nodosa (PAN) is a systemic vasculitis involving mainly medium-sized arteries and, rarely, small-sized arteries. The diagnosis is principally based on clinical exams, biopsy of an affected organ, and/or arteriography of renal or mesenteric arteries. Once diagnosed, immunosuppressive agents, such as glucocorticoids and cyclophosphamide, are generally introduced as soon as possible. Whether spontaneous remission of PAN occurs is therefore largely unknown. PRESENTATION: We describe the case of a 51-year-old woman who presented with a 4-day-history of intense pain in her left flank, hypertension, fever, microscopic hematuria, and acute renal failure...
February 8, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28176193/obstetric-outcomes-of-recurrent-pregnancy-loss-patients-diagnosed-w%C3%A4-th-inherited-thrombophilia
#8
C Karadağ, T Yoldemir, S D Karadağ, C İnan, Z N Dolgun, L Aslanova
BACKGROUND: Recurrent pregnancy loss (RPL) is defined by two or more failed pregnancies. The relation between RPL and inherited thrombophilia requires anticoagulant therapy during pregnancy. However the obstetric outcomes have not been well defined in these RPL patients diagnosed with inherited thrombophilia, who have been given anticoagulant therapy. AIM: To investigate the obstetric outcomes in pregnant women with RPL who are given low molecular weight heparin (LMWH) and low-dose aspirin due to diagnosis of inherited thrombophilia...
February 7, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28174134/whole-exome-sequencing-reveals-severe-thrombophilia-in-acute-unprovoked-idiopathic-fatal-pulmonary-embolism
#9
Matt Halvorsen, Ying Lin, Barbara A Sampson, Dawei Wang, Bo Zhou, Lucy S Eng, Sung Yon Um, Orrin Devinsky, David B Goldstein, Yingying Tang
BACKGROUND: Acute unprovoked idiopathic fatal pulmonary embolism (IFPE) causes sudden death without an identifiable thrombogenic risk. We aimed to investigate the underlying genomic risks of IFPE through whole exome sequencing (WES). METHODS: We reviewed 14years of consecutive out-of-hospital fatal pulmonary embolism records (n=1478) from the ethnically diverse population of New York City. We selected 68 qualifying IFPE cases for WES. We compared the WES data of IFPE cases to those of 9332 controls to determine if there is an excess of rare damaging variants in the genome using ethnicity-matched controls in collapsing analyses...
January 31, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28149566/utility-of-thrombophilia-testing-in-patients-with-venous-thrombo-embolism
#10
Masataka Kudo, Huang L Lee, Ian A Yang, Philip J Masel
BACKGROUND: Clinical practice of thrombophilia testing those with venous thrombo-embolism (VTE) in public hospitals may not be consistent with the international guidelines. This study aims to assess whether practice of thrombophilia testing in two public hospitals are consistent with international guidelines, and to assess whether certain groups of patients were more likely to benefit from testing. METHODS: A retrospective audit on patients who presented to two Queensland public hospitals from August 2011 to September 2012 with VTE...
December 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28147377/case-report-acute-flair-of-ulcerative-colitis-during-pregnancy-is-still-a-major-problem
#11
Marijana Protic, Srdjan Markovic, Dino Tarabar
Although severe flare of ulcerative colitis (UC) is uncommon, it significantly increases the risk of preterm delivery, low birth weight and other adverse fetal outcomes. It is critical to optimize aggressive medical treatment with both mother and fetal health. Here, we present a case of a 30-year-old woman with a severe flare of UC at the 16th gestational week. The diagnosis of extensive UC was established 8 years ago. From the time she was diagnosed, she had 5 moderate flares successfully treated with oral and topical mesalamine...
2017: Digestive Diseases
https://www.readbyqxmd.com/read/28134019/superficial-vein-thrombosis-in-non-varicose-veins-of-the-lower-limbs-and-thrombophilia
#12
Gabriella Lucchi, Salvino Bilancini, Sandro Tucci, Massimo Lucchi
Objectives Superficial vein thrombosis in non-varicose veins of the lower limbs is rather frequent and may be underestimated. This study aims to evaluate the prevalence of inherited or acquired thrombophilia in a sample of outpatients with the disease. Method An observational study was conducted on 73 consecutive superficial vein thrombosis patients tested for inherited or acquired thrombophilia. Results Sixty of 73 patients with superficial vein thrombosis completed the testing protocol, while 13 dropped out; 46 of 60 patients were found to have a thrombophilia (76...
January 1, 2017: Phlebology
https://www.readbyqxmd.com/read/28133551/large-left-ventricular-thrombus-in-a-patient-with-systemic-and-venous-thromboembolism-secondary-to-protein-c-and-s-deficiency
#13
Mohit Pahuja, Bujji Ainapurapu, Aiden Abidov
58-year-old Hispanic female presented with an altered mental status. A CT scan of the head demonstrated multiple scattered infarcts and a large right temporal lobe infarct. We also diagnosed the patient with right popliteal and femoral vein thrombosis, bilateral pulmonary embolism, and a transient right radial artery occlusion. Her 12-lead EKG showed lateral ST elevation. Emergent coronary angiogram revealed normal coronaries. Echocardiogram demonstrated a large mobile mass attached to the anterolateral free wall with overall normal contractility of the left ventricle...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28127424/the-cost-of-seeking-an-edge-recurrent-renal-infarction-in-setting-of-recreational-use-of-anabolic-steroids
#14
Shaun Colburn, W Kurtis Childers, Alex Chacon, Alexa Swailes, Fauzan M Ahmed, Rajinder Sahi
INTRODUCTION: Anabolic-androgenic steroid (AAS) use and testosterone therapy have been well established risk factors for the creation of a pro-thrombotic state, and to precipitate formation of thromboemboli in individuals already predisposed to thrombosis. CASE REPORT: Here, we present the case of an amateur bodybuilder, with a negative thrombophilia workup, who experienced primary renal infarction while using the AAS trenbolone acetate and testosterone, as well as a subsequent renal infarction while anticoagulated with apixaban...
February 2017: Annals of Medicine and Surgery
https://www.readbyqxmd.com/read/28116936/-superficial-venous-thrombosis-a-state-of-art
#15
Tamás Sándor
For a long time superficial thrombophlebitis has been thought to be a rather benign condition. Recently, when duplex ultrasound technique is used for the diagnosis more and more often, the disease is proved to be more dangerous than anticipated. Thrombosis propagates to the deep veins in 6-44% and pulmonary embolism was observed on the patients in 1,5-33%. We can calculate venous thromboembolic complications on every fourth patient. Diagnosis is clinical, but duplex ultrasound examination is mandatory, for estimation of the thrombus extent, for exclusion of the deep venous thrombosis and for follow up...
January 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28111891/the-clinical-presentation-and-genotype-of-protein-c-deficiency-with-double-mutations-of-the-protein-c-gene
#16
Hirofumi Inoue, Shin-Ichi Terachi, Takeshi Uchiumi, Tetsuji Sato, Michiyo Urata, Masataka Ishimura, Yui Koga, Taeko Hotta, Toshiro Hara, Dongchon Kang, Shouichi Ohga
BACKGROUND: Severe protein C (PC) deficiency is a rare heritable thrombophilia leading to thromboembolic events during the neonatal period. It remains unclear how individuals with complete PC gene (PROC) defects develop or escape neonatal stroke or purpura fulminans (PF). PROCEDURE: We studied the onset of disease and the genotype of 22 PC-deficient patients with double mutations in PROC based on our cohort (n = 12) and the previous reports (n = 10) in Japan. RESULTS: Twenty-two patients in 20 unrelated families had 4 homozygous and 18 compound heterozygous mutations...
January 23, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28108842/genetic-analysis-of-the-m2-anxa5-haplotype-as-recurrent-pregnancy-loss-predisposition-in-the-malay-population
#17
Kai-Cheen Ang, Sushilnathan Kathirgamanathan, Ewe Seng Ch'ng, Yan-Yeow Lee, Anna-Liza Roslani, Bavanandan Naidu, Krishna Kumar, Ridzuan Abdullah, Siti-Nadiah Abdul Kadir, Narazah Mohd Yusoff, Wan Zaidah Abdullah, Nadja Bogdanova, Peter Wieacker, Arseni Markoff, Thean-Hock Tang
PURPOSE: The aim of this study was to evaluate a new predisposition factor, M2/ANXA5 (RPRGL3), in recurrent pregnancy loss (RPL) patients of Malay origin, since it was previously known that the prevalence of this condition is relatively high among the Malay population of Malaysia, where conventional hereditary thrombophilia factors have been generally ruled out. METHODS: A total of 232 women who had experienced ≥2 unexplained RPL and 141 available male partners were recruited, with 360 healthy Malay and 166 parous female controls...
January 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28079536/non-vitamin-k-antagonist-oral-anticoagulants-in-patients-with-severe-inherited-thrombophilia-a-series-of-33-patients
#18
Anetta Undas, Tadeusz Goralczyk
The aim of the study was to investigate whether treatment with non-vitamin K antagonist oral anticoagulants (NOACs) is effective and well tolerated in real-life patients following venous thromboembolism (VTE) associated with severe inherited thrombophilia. We evaluated 33 consecutive patients with severe inherited thrombophilia, defined as the presence of deficiencies in protein C, protein S, or anti-thrombin, homozygous factor V Leiden and prothrombin G20210A mutations, or combined defects. The patients were recruited from March 2010 to December 2015 and followed till July 2016...
January 12, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28075532/clinical-and-biochemical-characterization-of-the-prothrombin-belgrade-mutation-in-a-large-serbian-pedigree-new-insights-into-antithrombin-resistance-mechanism
#19
Predrag Miljic, Maja Gvozdenov, Yuki Takagi, Akira Takagi, Iva Pruner, Marija Dragojevic, Branko Tomic, Jelena Bodrozic, Tetsuhito Kojima, Dragica Radojkovic, Valentina Djordjevic
BACKGROUND: The recently reported c.1787G>A mutation in the prothrombin gene leads to Arg596Gln replacement in the protein molecule (prothrombin Belgrade). This substitution impairs binding of antithrombin to thrombin and results in inherited thrombophilia, known as antithrombin resistance. OBJECTIVES: We aimed to elucidate the clinical and biochemical characteristics of thrombophilia associated with antithrombin resistance in a large Serbian family with the prothrombin Belgrade mutation...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28063537/facteurs-g%C3%A3-n%C3%A3-tiques-%C3%A3-prendre-en-consid%C3%A3-ration-dans-le-cadre-de-l-examen-gyn%C3%A3-cologique-annuel
#20
R Douglas Wilson, Sylvie Langlois
OBJECTIF: Offrir aux médecins un survol des troubles génétiques courants qui devraient être pris en considération dans le cadre de l'examen gynécologique annuel d'une patiente, et ce, afin de déterminer le risque que court celle-ci ou d'en venir à procéder à des examens particuliers ou à orienter la patiente vers un autre service de sous-spécialité, en fonction de ses antécédents personnels ou familiaux. OPTIONS: Ces renseignements d'ordre génétique peuvent être utilisés aux fins de la sensibilisation des patientes et du dépistage ou du diagnostic de possibles maladies et/ou mutations...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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