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Thrombophilia

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https://www.readbyqxmd.com/read/28936100/multiple-inherited-thrombophilias-in-a-young-patient-with-striatocapsular-stroke
#1
Isabel Taveira, Cláudia Vicente, Sofia Sobral, Hipólito Nzwalo, José Sousa E Costa
No abstract text is available yet for this article.
August 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28934665/venous-thromboembolism-in-children-with-cystic-fibrosis-retrospective-incidence-and-intrapopulation-risk-factors
#2
Jessica Knight-Perry, Brian R Branchford, Dianne Thornhill, Stacey L Martiniano, Scott D Sagel, Michael Wang
INTRODUCTION: Pediatric venous thromboembolism (VTE) is a rare but serious medical condition. Cystic fibrosis (CF) is a risk for recurrent pediatric VTE and has potential thrombophilic tendency. However, much remains unknown, including incidence and intrapopulation risk factors. METHODS: A retrospective cohort of pediatric CF patients followed at Children's Hospital Colorado from January 1st 2003 through May 20th 2016 was examined. Cases were identified by informatics and validated manually...
September 5, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28932552/chylothorax-after-pediatric-cardiac-surgery-complicates-short-term-but-not-long-term-outcomes-a-propensity-matched-analysis
#3
Nikoletta R Czobor, György Roth, Zsolt Prodán, Daniel J Lex, Erzsébet Sápi, László Ablonczy, Mihály Gergely, Edgar A Székely, János Gál, Andrea Székely
BACKGROUND: The occurrence of postoperative chylothorax in children with congenital heart disease is a rare and serious complication in cardiac intensive care units (ICUs). The aim of our study was to identify the perioperative characteristics, treatment options, resource utilization and long term complications of patients having chylothorax after a pediatric cardiac surgery. METHODS: Patients were retrospectively assessed for the presence of chylothorax between January 2002 and December 2012 in a tertiary national cardiac center...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28930509/thrombophilia-testing-and-venous-thrombosis
#4
Jean M Connors
New England Journal of Medicine, Volume 377, Issue 12, Page 1177-1187, September 2017.
September 21, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28928995/acute-unilateral-renal-infarction-in-the-setting-of-an-inherited-thrombophilia-and-atrial-septal-defect
#5
Siavash Piran, Sam Schulman
We present a case of renal infarction in a 43-year-old female with history of stroke at age 14. She was found to be heterozygous for the prothrombin G20210A gene mutation. Loop monitoring revealed no atrial fibrillation. Transthoracic and transesophageal echocardiograms showed no thrombus. However, there was a small shunt due to an atrial septal defect (ASD). She was treated with warfarin and had device closure of her ASD. This was a suspected case of paradoxical embolism through an ASD leading to renal infarction...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#6
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
September 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28924537/inherited-thrombophilias-could-influence-the-reproductive-outcome-in-women-with-systemic-lupus-erythematosus
#7
R Robeva, D Tanev, S Andonova, M Nikolova, A Tomova, Ph Kumanov, A Savov, R Rashkov, Zl Kolarov
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with different reproductive complications in the affected women. Inherited thrombophilias are genetic factors increasing the risk for thromboembolism and recurrent pregnancy loss, but their influence on other reproductive disturbances in SLE patients has not been completely clarified. Two hundred and twenty-three Caucasian women (112 with SLE and 111 controls) were included in the study. Complete reproductive history of all SLE patients was carefully obtained...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28918617/right-ventricular-thrombosis-combined-with-fetal-death-and-acrocyanosis-in-pregnancy
#8
Feridoun Sabzi, Aghigh Heidari
Prepartum or postpartum right ventricular thrombosis (RVT) is an exceedingly rare and potentially lethal phenomenon in pregnancy. We here report a case of a pregnant patient with near term pregnancy admitted for dyspnea, amniotic fluids discharge and labor pain in a gynecology center that an eight-month dead fetus was diagnosed and delivered vaginally by induction. A post delivery period was complicated by aggravation of her dyspnea and pleuritic chest pain that she referred for further evaluation in our cardiac center...
July 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28914288/inpatient-thrombophilia-testing-at-what-expense
#9
Lauren A Heidemann, Christopher M Petrilli, Geoffrey D Barnes
No abstract text is available yet for this article.
September 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/28914278/magnitude-of-potentially-inappropriate-thrombophilia-testing-in-the-inpatient-hospital-setting
#10
Eric Mou, Henry Kwang, Jason Hom, Lisa Shieh, Andre Kumar, Ilana Richman, Caroline Berube
Laboratory costs of thrombophilia testing exceed an estimated $650 million (in US dollars) annually. Quantifying the prevalence and financial impact of potentially inappropriate testing in the inpatient hospital setting represents an integral component of the effort to reduce healthcare expenditures. We conducted a retrospective analysis of our electronic medical record to evaluate 2 years' worth of inpatient thrombophilia testing measured against preformulated appropriateness criteria. Cost data were obtained from the Centers for Medicare and Medicaid Services 2016 Clinical Laboratory Fee Schedule...
September 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/28914273/patterns-and-appropriateness-of-thrombophilia-testing-in-an-academic-medical-center
#11
Nicholas Cox, Stacy A Johnson, Sara Vazquez, Ryan P Fleming, Matthew T Rondina, David Kaplan, Stephanie Chauv, Gabriel V Fontaine, Scott M Stevens, Scott Woller, Daniel M Witt
BACKGROUND: Clinical guidelines recommend against routine use of thrombophilia testing in patients with acute thromboembolism. Thrombophilia testing rarely changes acute management of a thrombotic event. OBJECTIVE: To determine appropriateness of thrombophilia testing in a teaching hospital. DESIGN: Retrospective cohort study. SETTING: One academic medical center in Utah. PARTICIPANTS: All patients who received thrombophilia testing between July 1, 2014, and December 31, 2014...
September 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/28913590/challenges-of-anticoagulation-therapy-in-pregnancy
#12
REVIEW
Annemarie E Fogerty
Thrombotic complications in pregnancy represent a major cause of morbidity and mortality. Pregnancy is a primary hypercoagulable state due to enhanced production of clotting factors, a decrease in protein S activity, and inhibition of fibrinolysis. These physiologic changes will yield a collective rate of venous thromboembolism (VTE) of about 1-2 in 1000 pregnancies for the general obstetric population, which represents a five- to tenfold increased risk in pregnancy compared to age-matched non-pregnant peers...
September 14, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28904671/-idiopathic-intracranial-hypertension-a-rare-case-related-to-pregnancy
#13
Jihad Drissi, Ayman Hachi, Laila Adlani, Jaouad Kouach, Driss Moussaoui, Mohamed Dehayni
We report the case of a 25-year old primipara whose pregnancy was complicated by idiopathic intracranial hypertension (ICHT) associated with visual impairment in the first quarter. She underwent lumboperitoneal shunt without obstetric consequences. This study aimed to determine the features of this rare pathological entity whose pathophysiological mechanism is poorly elucidated. It would be caused by poor absorption of cerebrospinal fluid (CSF) through the arachnoid granulations. Major risk factors are: obesity, polycystic ovary syndrome, thrombophilia and hyperfibrinolyse...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28904504/role-of-serpine-gene-polymorphism-in-recurrent-implantation-failure-and-preeclampsia
#14
Nidhi Sharma, Jayashree K Srinivasan, Margeret Harriet Priya, Venkatachalam Sibiya
This is a rare case of serpine gene polymorphism causing thrombophilia and recurrent implantation failure following intrauterine insemination. SERPINE1 gene encodes plasminogen activator inhibitor type 1 and inhibits fibrinolysis, or clot dissolution. The 4G variant results in increased expression of SERPINE1 and consequently higher inhibition of fibrinolysis, thus leading to thrombophilia. The patient had unexplained primary infertility for 9 years. Ovulation induction was done with gonadotropin releasing hormone (GnRH) agonist long protocol...
April 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28900802/assessment-of-m2-anxa5-haplotype-as-a-risk-factor-in-couples-with-placenta-mediated-pregnancy-complications
#15
Nina Rogenhofer, Lara R M Nienaber, Lea C Amshoff, Nadia Bogdanova, David Petroff, Peter Wieacker, Christian J Thaler, Arseni Markoff
PURPOSE: The aim of this study was to confirm the associated M2/ANXA5 carrier risk in women with placenta-mediated pregnancy complications (PMPC) and to test their male partners for such association. Further analysis evaluated the influence of maternal vs. paternal M2 alleles on miscarriage. METHODS: Two hundred eighty-eight couples with preeclampsia (PE), intrauterine growth restriction (IUGR), or premature birth (PB) were recruited (n = 96 of each phenotype)...
September 13, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#16
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
September 9, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28884608/analysis-of-risk-factors-of-stroke-and-venous-thromboembolism-in-females-with-oral-contraceptives-use
#17
Petr Dulicek, Eva Ivanova, Milan Kostal, Petr Sadilek, Martin Beranek, Pavel Zak, Jana Hirmerova
Thrombotic diathesis has been a well-known complication of oral contraceptive use for more than 50 years. This is true not only for venous thrombosis but also for an arterial one. The etiology is usually multifactorial and depends on several additional risk factors. We analyzed the prevalence of inherited and acquired thrombophilia in a cohort of 770 females who had a thrombotic event in association with oral contraceptive use (700 women with venous thromboembolism [VTE], 70 with stroke). Moreover, we tried to identify additional risk factors...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/28880867/oral-tetrahydrouridine-and-decitabine-for-non-cytotoxic-epigenetic-gene-regulation-in-sickle-cell-disease-a-randomized-phase-1-study
#18
RANDOMIZED CONTROLLED TRIAL
Robert Molokie, Donald Lavelle, Michel Gowhari, Michael Pacini, Lani Krauz, Johara Hassan, Vinzon Ibanez, Maria A Ruiz, Kwok Peng Ng, Philip Woost, Tomas Radivoyevitch, Daisy Pacelli, Sherry Fada, Matthew Rump, Matthew Hsieh, John F Tisdale, James Jacobberger, Mitch Phelps, James Douglas Engel, Santhosh Saraf, Lewis L Hsu, Victor Gordeuk, Joseph DeSimone, Yogen Saunthararajah
BACKGROUND: Sickle cell disease (SCD), a congenital hemolytic anemia that exacts terrible global morbidity and mortality, is driven by polymerization of mutated sickle hemoglobin (HbS) in red blood cells (RBCs). Fetal hemoglobin (HbF) interferes with this polymerization, but HbF is epigenetically silenced from infancy onward by DNA methyltransferase 1 (DNMT1). METHODS AND FINDINGS: To pharmacologically re-induce HbF by DNMT1 inhibition, this first-in-human clinical trial (NCT01685515) combined 2 small molecules-decitabine to deplete DNMT1 and tetrahydrouridine (THU) to inhibit cytidine deaminase (CDA), the enzyme that otherwise rapidly deaminates/inactivates decitabine, severely limiting its half-life, tissue distribution, and oral bioavailability...
September 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28878831/the-mirage-of-long-term-vital-benefice-risk-for-the-beginning-of-life
#19
Ramona Mohora, Decebal Hudita, Silvia-Maria Stoicescu
INTRODUCTION: Cord blood is the "life" of the fetus until birth. After delivery, the newborn is "single" and forced to adapt to live using the latest resources provided by the mother. Those who believe that a newborn is just a miniature independent adult are just trusting one of the illusions of secular medicine. Cord blood contains precious cells, stem, red and white blood cells. T cells as a part of white blood cells prevent infections and other illnesses. Cochrane Database 2013 published a study reporting the role of delayed umbilical cord clamping for the benefit of infants...
January 2017: Mædica
https://www.readbyqxmd.com/read/28877324/t786c-mutation-in-the-endothelial-nitric-oxide-synthase-gene-in-patients-with-primary-osteonecrosis
#20
Amir M Khan, Joshua Choi, Richard A Freiberg, Charles J Glueck, Naila Goldenberg, Ping Wang
Mutations in the T786C endothelial nitric oxide synthase gene (eNOS) are associated with osteonecrosis and Prinzmetal's angina. Nitric oxide is necessary for bone health and ameliorates Prinzmetal's angina. This study compared mutations of T786C eNOS in 146 patients with primary osteonecrosis, 114 patients with Prinzmetal's angina, and 83 normal control subjects. Patients with osteonecrosis had more mutant eNOS alleles than control subjects (42% vs 22%, respectively; P<.0001) but had the same number of mutant alleles as patients with Prinzmetal's angina (42% vs 41%, respectively; P=...
September 6, 2017: Orthopedics
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