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https://www.readbyqxmd.com/read/28445521/next-generation-sequencing-to-dissect-the-genetic-architecture-of-kng1-and-f11-loci-using-factor-xi-levels-as-an-intermediate-phenotype-of-thrombosis
#1
Laura Martin-Fernandez, Giovana Gavidia-Bovadilla, Irene Corrales, Helena Brunel, Lorena Ramírez, Sonia López, Juan Carlos Souto, Francisco Vidal, José Manuel Soria
Venous thromboembolism is a complex disease with a high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 and F11 loci. Our aim was to identify the genetic variation of KNG1 and F11 that might account for the variability of FXI levels. The KNG1 and F11 loci were sequenced completely in 110 unrelated individuals from the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia 2) Project using Next Generation Sequencing on an Illumina MiSeq. The GAIT-2 Project is a study of 935 individuals in 35 extended Spanish families selected through a proband with idiopathic thrombophilia...
2017: PloS One
https://www.readbyqxmd.com/read/28432724/fluorescent-aerolysin-flaer-based-paroxysmal-nocturnal-hemoglobinuria-pnh-screening-a-single-center-experience-from-india
#2
K Rahman, R Gupta, G Yadav, N Husein, M K Singh, S Nityanand
BACKGROUND: Fluorescent aerolysin (FLAER) has been recommended as an important part of antibody panel used for flow cytometric detection of paroxysmal nocturnal hemoglobinuria (PNH) clone. This study was aimed to observe the frequency of PNH-positive clones and their sizes in patients screened for various indications. METHOD: A retrospective analysis of 624 patients screened over a period of 30 months. Frequency and size of clone sizes noted, and laboratory parameters were compared among different groups of patient being screened...
April 22, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28427109/traveler-s-diarrhea-vision-abnormalities-and-unsteady-gait-in-a-young-woman
#3
Tobias Mühling, Felix Gundling, Thomas Helmberger, Wolfgang Schepp
We report on the course of disease in a young woman, originally admitted with suspected refractory infectious tropical traveler's diarrhea. However, symptoms did not resolve upon either symptomatic or subsequent antibiotic therapy. When neurologic deterioration was observed, imaging studies revealed a dramatic series of thromboembolic events, including intracranial hemorrhage caused by extensive sinus vein thrombosis as well as thrombi of the right cardiac ventricle. Colonic mucosal biopsy samples finally led to the histologic diagnosis of ulcerative colitis...
April 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28419986/hypodysfibrinogenemia-with-a-heterozygous-mutation-of-%C3%AE-cys326ser-by-the-novel-transversion-of-tgt-to-tct-in-a-patient-with-pulmonary-thromboembolism-and-right-ventricular-thrombus
#4
Akiko Ushijima, Taichi Komai, Atsuko Masukawa, Keiko Oikawa, Norishige Morita, Satomi Asai, Saki Mukai, Nobuo Okumura, Yoshinori Kobayashi, Hayato Miyachi
We encountered a 45-year-old Japanese man who suffered from pulmonary thromboembolism and huge right ventricular thrombus after inferior vena cava (IVC) filter implantation without apparent thrombus in either the deep veins or inside the IVC filter. The biochemical data showed a discrepancy in the level of fibrinogen between the immunological and thrombin time methods, suggesting hypodysfibrinogenemia. The sequencing of the fibrinogen γ-chain gene (FGG) revealed a novel heterozygous missense mutation in exon 8 - a TGT to TCT transversion in codon 326 - resulting in an amino acid substitution of serine for cysteine (γCys326Ser)...
April 19, 2017: Cardiology
https://www.readbyqxmd.com/read/28415099/p594contrast-transthoracic-echocardiography-as-a-gatekeeper-for-patent-foramen-ovale-closure
#5
M Muratori, G Italiano, E Innocenti, L Fusini, M Mapelli, G Tamborini, S Ghulam Ali, P Gripari, A Maltagliati, F Celeste, M Pepi
Background.: The presence of patent foramen ovale (PFO) has been linked to many illness, including cryptogenic stroke, transient ischemic attack, migraine, platypnea-orthodeoxia syndrome and decompression sickness in scuba divers. Transesophageal echocardiography is the gold standard technique for the visualization of atrial septal anatomy, but it is a secondary level exam, not always available, with additional associated costs and not completely free from procedural risks. Standard transthoracic echocardiography (TTE) has a too low sensitivity for PFO screening...
December 1, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28414658/septic-cerebral-venosinus-thrombosis-secondary-to-an-odontogenic-infection
#6
Hongvan Le, Shane Prejean, Madeleine Heck
BACKGROUND: Cerebral venosinus thrombosis (CVT); is an uncommon, potentially fatal disease that is more common in young adults and children. Thrombophilia, elevated estrogenic states, and infections are the most common risk factors in patients who develop CVT. CASE: A 69-year-old man with a right-sided odontogenic infection presented with fever, headache, opthalmoplegia, and periorbital swelling. Imaging revealed evidence of meningitis and thrombosis of bilateral ophthalmic veins, the cavernous sinus, right internal jugular vein, and sigmoid sinus...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28407356/risk-of-cancer-after-anticoagulation-in-patients-with-unprovoked-venous-thromboembolism-an-observational-cohort-study
#7
L Eischer, M Kammer, L Traby, P A Kyrle, S Eichinger
BACKGROUND: Patients with venous thromboembolism (VTE) are at risk of subsequent cancer diagnosis. The risk is highest during the first six months. Reports on cancer rates thereafter are controversial. We aimed to assess long-term rates and risk factors of cancer in patients with VTE. METHODS AND RESULTS: We followed patients with a first unprovoked VTE after discontinuation of anticoagulation and excluded those with long-term antithrombotic therapy or major thrombophilia...
April 13, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28401801/thrombophilia-in-153-patients-with-premature-cardiovascular-disease-%C3%A2-age-45
#8
Alexander Milgrom, Kevin Lee, Matan Rothschild, Frini Makadia, Greg Duhon, Sarah Min, Ping Wang, Charles J Glueck
We assessed contributions of thrombophilia to premature cardiovascular disease (CVD) events (≤ age 45) in 153 patients. Test results of thrombophilia-hypofibrinolysis were obtained in 153 patients with CVD ≤ age 45, 110 healthy normal controls, and 110 patients who had venous thromboembolism (VTE) without CVD. Of the 153 patients with CVD, 121 (79%) had sustained myocardial infarction, 70 (46%) had coronary artery stenting, and 53 (35%) had coronary artery bypass grafts. The first CVD events occurred at ages >20 to 35 in 47 patients and at ages >35 to 45 in 106 patients...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28395787/testing-for-thrombophilia-in-mesenteric-venous-thrombosis-retrospective-original-study-and-systematic-review
#9
REVIEW
M Zarrouk, S Salim, J Elf, A Gottsäter, S Acosta
The aim was to perform a local study of risk factors and thrombophilia in mesenteric venous thrombosis (MVT), and to review the literature concerning thrombophilia testing in MVT. Patients hospitalized for surgical or medical treatment of MVT at our center 2000-2015. A systematic review of observational studies was performed. In the local study, the most frequently identified risk factor was Factor V Leiden mutation. The systematic review included 14 original studies. The highest pooled percentage of any inherited thrombophilic factor were: Factor V Leiden mutation 9% (CI 2...
February 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28394549/the-role-of-low-molecular-weight-heparin-in-women-with-hereditary-thrombophilia-for-good-perinatal-outcome
#10
Vesna Sokol, Marina Ivanišević, Mislav Herman, Josip Đelmiš
The aim of the study was to establish the importance of low molecular weight heparin (LMWH) treatment for good pregnancy outcome in patients with hereditary thrombophilia. This retrospective study included 70 patients with inherited thrombophilia who gave birth at Zagreb University Hospital Center in the period from January 2014 to January 2015. Fifty-seven women were treated and 13 women were not treated with LMWH. Perinatal outcome was significantly better in women with hereditary thrombophilia who were treated with heparin during pregnancy as compared with women without LMWH (p=0...
June 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/28393620/progressively-worsening-premature-coronary-artery-disease-adding-anticoagulation-stabilizes-reverses-clinical-symptomatic-disease-progression-in-thrombophilic-atherothrombotic-patients-a-pilot-study
#11
Matan Rothschild, Vybhav Jetty, Christopher Mahida, Ping Wang, Marloe Prince, Naila Goldenberg, Charles J Glueck
In 35 patients with 116 severe premature cardiovascular disease (CVD) events (median age: 48 years), 14 having worsening CVD despite maximal intervention, we evaluated thrombophilia and speculated that anticoagulation might arrest-reverse progressive thrombophilic-atherothrombotic CVD. Thrombophilia-hypofibrinolysis in the 35 patients was compared to 110 patients with venous thromboembolism (VTE) without CVD and to 110 healthy normal controls. Efficacy-safety of anticoagulation was prospectively assessed in 14 of the 35 patients whose CVD worsened over 2 years despite maximal medical-surgical intervention...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28390428/rivaroxaban-as-an-effective-alternative-to-warfarin-in-a-patient-with-atrial-fibrillation-thrombophilia-and-left-atrial-appendage-thrombus-a-case-report
#12
Michele Scarano, Matteo Casale, Cesare Mantini, Egidio Imbalzano, Cristiana Consorti, Daniela Clemente, Giuseppe Dattilo
BACKGROUND: Atrial fibrillation is the most common cardiac arrhythmia. It is responsible for up to 20% of all ischemic strokes. Rate control and anticoagulation are crucial for atrial fibrillation management and stroke prevention. CASE PRESENTATION: We present the case of an 84-year-old Italian woman with a left atrial appendage thrombus that developed despite her use of anticoagulant therapy with warfarin for a previous pulmonary embolism. She had atrial fibrillation and heterozygosity for both factor V Leiden and methylenetetrahydrofolate reductase C677T mutation, thus creating resistance to activated protein C...
April 9, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28382527/multiple-thrombophilia-mutations-as-a%C3%A2-possible-cause-of-premature-myocardial-infarction
#13
Gabriela Dostálová, Jan Bělohlávek, Zuzana Hlubocká, Kristýna Bayerová, Petra Bobčiková, Tomáš Kvasnička, Jan Kvasnička, Aleš Linhart, Debora Karetová
The incidence of acute myocardial infarction (AMI) increases with clustering of predisposing risk factors. In younger subjects with a positive family history of AMI occurring in relatives under the age of 60 years without obvious risk factors for atherosclerosis, there is a potential for strong inherited traits contributing to the risk of coronary disease. Among them there is increasing evidence that hereditary thrombophilia may play a major role. We present a unique case of a patient developing AMI at the age of 48 years...
April 5, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28376907/incidence-of-venous-thromboembolism-and-bleeding-events-in-patients-with-lower-extremity-orthopedic-surgery-a-retrospective-analysis-of-a-japanese-healthcare-database
#14
Takeshi Fuji, Masao Akagi, Yasuyuki Abe, Eisei Oda, Daisuke Matsubayashi, Kaori Ota, Masafumi Kobayashi, Yasuyuki Matsushita, Jumpei Kaburagi, Kei Ibusuki, Atsushi Takita, Mikio Iwashita, Takuhiro Yamaguchi
BACKGROUND: Orthopedic surgeries of lower extremities such as total knee arthroplasty (TKA), total hip arthroplasty (THA), and hip fracture surgery (HFS) are widely considered to carry a high risk of developing deep venous thrombosis (DVT) and pulmonary thromboembolism (PTE). Growing attention to epidemiological studies using a healthcare database led us to quantify the risks using a Japanese database to reveal recent medical care for such events. METHODS: The study comprised 36,947 patients who had undergone orthopedic surgeries of the lower extremities and whose medical information from April 2008 to September 2013 was available...
April 4, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/28369660/incidence-and-risk-factors-of-venous-thromboembolism-during-postpartum-period-a-population-based-cohort-study
#15
Päivi Johanna Galambosi, Mika Gissler, Risto Juhani Kaaja, Veli-Matti Ulander
The awareness of the incidence and timing of postpartum venous thromboembolic event (VTE) guides the use of thrombophophylaxis. Our aims were to assess the incidence and mortality of VTE and identify its associated risk factors during different postpartum periods MATERIAL AND METHODS: A population-based controlled cohort-study by combining four large registers in 2001-2011. All women with a recent delivery were identified. The incidence, risk factors and mortality of VTE 0-180 days after delivery were assessed by using all healthy delivered women as the control group...
March 30, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28367651/outcomes-in-an-obstetrical-population-with-hereditary-thrombophilia-and-high-tobacco-use
#16
Byron Calhoun, Elizabeth Hoover, Dara Seybold, Mike Broce, Ashley Hill, Burk Shaible, Luis A Bracero
OBJECTIVE: The purpose of this study was to examine birth outcomes in women treated or untreated for thrombophilia during pregnancies affected or not by tobacco exposure. METHODS: This was a retrospective cohort study of consecutive women from a single maternal fetal medicine clinic who delivered between January 2009 and December 2013. We compared birth outcomes by four groups of thrombophilia and smoking combinations and then by treated or untreated groups. RESULTS: Of the 8889 pregnant women in this study, 113 had thrombophilia and 97 received treatment...
April 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28364812/coagulopathy-before-and-after-liver-transplantation-from-the-hepatic-to-the-systemic-circulatory-systems
#17
REVIEW
Jonathan G Stine, Patrick G Northup
The hemostatic environment in patients with cirrhosis is a delicate balance between prohemostatic and antihemostatic factors. There is a lack of effective laboratory measures of the hemostatic system in patients with cirrhosis. Many are predisposed to pulmonary embolus, deep vein thrombosis, and portal vein thrombosis in the pretransplantation setting. This pretransplantation hypercoagulable milieu seems to extend for at least several months post-transplantation. Patients with nonalcoholic fatty liver disease, inherited thrombophilia, portal hypertension in the absence of cirrhosis, and hepatocellular carcinoma often require individualized approach to anticoagulation...
May 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28362975/gstm1-polymorphism-in-patients-with-clinical-manifestations-of-atherosclerosis
#18
D A Rodrigues, J V M Martins, K S F E Silva, I R Costa, M H Lagares, F L Campedelli, A M Barbosa, M P de Morais, K K V O Moura
Atherosclerosis is characterized by lesions, called atheroma or atheromatous plaques, in the inner layer of blood vessels, which block the vascular lumen and weaken the underlying tunica media. Several modifiable and non-modifiable risk factors for the development of atherosclerosis exist. The modifiable risk factors include hypertension, smoking, obesity, high LDL and low HDL cholesterol levels, sedentary lifestyle, and stress; the non-modifiable factors include diabetes mellitus, family history of hypertension and heart disease, thrombophilia, sex, age, and genetic factors...
March 15, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28361296/women-with-homozygous-at-deficiency-type-ii-heparin-binding-site-hbs-are-at-high-risk-of-pregnancy-loss-and-pregnancy-complications
#19
Julia Kraft, Raute Sunder-Plassmann, Christine Mannhalter, Peter Quehenberger, Gernot Tews, Martin Langer, Ingrid Pabinger
Data regarding outcome and therapy of pregnancies in patients with homozygous antithrombin (AT) deficiency are very rare. We conducted a retrospective, descriptive investigation with emphasis on the obstetric history of eight women with homozygous AT deficiency heparin-binding site (HBS), who had at least one pregnancy. The aim of the study was to get a better insight into the outcome and identify suitable management procedures of pregnancy in this rare disease. All patients suffered from homozygous AT deficiency caused by the mutation c...
March 30, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28361003/case-report-primary-osteonecrosis-associated-with-thrombophilia-hypofibrinolysis-and-worsened-by-testosterone-therapy
#20
Michael Ian Jarman, Kevin Lee, Ariel Kanevsky, Sarah Min, Ilana Schlam, Chris Mahida, Ali Huda, Alexander Milgrom, Naila Goldenberg, Charles J Glueck, Ping Wang
BACKGROUND: Familial and acquired thrombophilia are often etiologic for idiopathic hip and jaw osteonecrosis (ON), and testosterone therapy (TT) can interact with thrombophilia, worsening ON. CASE PRESENTATION: Case 1: A 62-year-old Caucasian male (previous deep venous thrombosis), on warfarin 1 year for atrial fibrillation (AF), had non-specific right hip-abdominal pain for 2 years. CT scan revealed bilateral femoral head ON without collapse. Coagulation studies revealed Factor V Leiden (FVL) heterozygosity, 4G/4G plasminogen activator inhibitor (PAI) homozygosity, high anti-cardiolipin (ACLA) IgM antibodies, and endothelial nitric oxide (NO) synthase (eNOS) T786C homozygosity (reduced conversion of L-arginine to NO, required for bone health)...
2017: BMC Hematology
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