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Thrombophilia in pregnancy

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https://www.readbyqxmd.com/read/29109889/a-case-report-on-vt-from-tv-dvt-and-pe-from-prolonged-television-watching
#1
Alan Lucerna, James Espinosa, Lindsey Ackley, Philip Carhart, Douglas Stranges, Risha Hertz
Pulmonary embolus (PE) and deep vein thrombosis are diagnoses that are commonly made in the emergency department. Well known risk factors for thromboembolic events include immobility, malignancy, pregnancy, surgery, and acquired or inherited thrombophilias, obesity, cigarette smoking, and hypertension. We present a case of a 59-year-old female who watched TV and developed leg swelling and was found to have PE and DVT.
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29077664/a-case-report-of-recurrent-severe-peripartum-cardiomyopathy-complicated-by-factor-v-leiden-and-multiple-endocrine-neoplasia-type-1-a-management-conundrum
#2
Amanda M Kleiman, Jessica L Sheeran, Mohamed Tiouririne
Cardiovascular disease is the leading cause of peripartum death in the United States during pregnancy. The presence of concomitant diagnoses may complicate or conflict with the management of the primary cardiovascular diagnosis and further complicate pregnancy and delivery. We describe the management of a 29-year-old, gravida 5, para 1 woman with severe peripartum cardiomyopathy during this and a previous pregnancy complicated by multiple endocrine neoplasia type and factor V Leiden thrombophilia, limiting therapeutic options and contributing to considerable perioperative management challenges...
October 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29074563/pregnancy-thrombophilia-and-the-risk-of-a-first-venous-thrombosis-systematic-review-and-bayesian-meta-analysis
#3
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
#4
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/28978853/idiopathic-thrombosis
#5
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/28924537/inherited-thrombophilias-could-influence-the-reproductive-outcome-in-women-with-systemic-lupus-erythematosus
#6
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
#7
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/28914273/patterns-and-appropriateness-of-thrombophilia-testing-in-an-academic-medical-center
#8
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
#9
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
#10
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
#11
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
#12
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/28884608/analysis-of-risk-factors-of-stroke-and-venous-thromboembolism-in-females-with-oral-contraceptives-use
#13
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/28871481/vascular-manifestations-in-antiphospholipid-syndrome-aps-is-aps-a-thrombophilia-or-a-vasculopathy
#14
REVIEW
Salma Siddique, Jessie Risse, Guillaume Canaud, Stéphane Zuily
PURPOSE OF REVIEW: Antiphospholipid antibody syndrome (APS) is characterized primarily by thrombosis and pregnancy morbidity. Chronic vascular lesions can also occur. While the underlying mechanisms of these vascular lesions are not entirely known, there have been multiple theories describing the potential process of vasculopathy in APS and the various clinical manifestations associated with it. RECENT FINDINGS: Recently, it has been demonstrated that endothelial proliferation in kidneys can be explained by the activation of the mammalian target of rapamycin complex (mTORC) pathway by antiphospholipid antibodies (aPL)...
September 4, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28867034/-neonatal-arterial-ischemic-stroke-which-thrombotic-biological-risk-factors-to-investigate-and-which-practical-consequences
#15
T Perez, J B Valentin, E Saliba, Y Gruel
All biological risk factors that have been previously identified to increase the risk of thrombosis in adults, have also been studied in neonates with arterial Ischemic Stroke (NAIS), but most studies were retrospective and included relatively low numbers of affected children. We therefore could not suggest recommendations with a strong level of evidence and only expert proposals potentially useful for clinical practice will be presented in this text. Despite these limitations, the extensive analysis of published data supported that factor V Leiden (FVL) and increased levels of Lp(a) could be significant risk factors for NAIS...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28838266/recurrence-of-extreme-serum-analytes-in-consecutive-pregnancies-and-association-with-obstetrical-outcomes
#16
Shelly Soni, David A Krantz, Meir Greenberg, Nidhi Vohra, Burton Rochelson
OBJECTIVE: To evaluate if presence of extreme maternal serum biochemical analytes recurs in consecutive pregnancies. We hypothesized that presence of >1 extreme analyte in prior pregnancy is associated with increased risk of adverse pregnancy outcome in subsequent pregnancy. METHODS: Retrospective cohort study of singleton pregnancies evaluated and delivered in 2 consecutive pregnancies (2011-2015). Adverse outcomes were defined as indicated preterm delivery before 37 completed weeks due to preeclampsia, fetal growth restriction or other complications...
September 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28826740/the-effect-of-parnaparin-sodium-on-in-vitro-fertilization-outcome-a-prospective-randomized-controlled-trial
#17
Corrado Lodigiani, Francesco Dentali, Elena Banfi, Paola Ferrazzi, Luca Librè, Ilaria Quaglia, Luca Cafaro, Emanuela Morenghi, Veronica Pacetti, Elena Zannoni, Anna Maria Baggiani, Paolo Emanuele Levi-Setti
INTRODUCTION: In-vitro and in-vivo models suggest the influence of low-molecular weight heparin on conception in infertile women undergoing in vitro fertilization procedures (IVF). In this randomized controlled trial we assessed whether a low-molecular weight heparin (parnaparin) could affect IVF outcomes. MATERIALS AND METHODS: 271cycles were analyzed in 247 women having a first or subsequent IVF cycle at Fertility Center of Humanitas Research Hospital. Patients, without severe thrombophilia and hormonal or active untreated autoimmune disorders, were randomly allocated (1:1) to receive for the whole cycle parnaparin, or routine hormonal therapy only...
August 15, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28820408/-thrombophilic-genetic-mutations-and-polymorphisms-in-women-with-infertility-and-failed-in-vitro-fertilization
#18
G Abrahamyan
Occurrence of pregnancy after in vitro fertilization depends of two components: functional adequacy of the embryo at the blastocyst stage and receptivity of endometrium, which, according to modern perception, are determinate in achieving optimal conditions of implantation. From the pregnancy occurrence point of view, as well as in regard to its further development , implantation is the most crucial phase of IVF/ICSI and ET. As the same time, this phase is also the most vulnerable. Multiple researches have proven the role of mother thrombophilia for genesis of gestation complications and early embryo losses, but in relation to this problem i the context of IVF there is still a lot to be detailed...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28820406/-results-of-preparation-and-implementation-of-ivf-program-in-patients-with-thrombophilia-and-history-of-failed-ivf
#19
G Abrahamyan
The problem of infertility and reproductive losses maintains its urgency, as well as medical and social significance. Frequency of infertility in overall population, according to the data from different authors, varies from 9 to 18 per cent. Methods of aided reproductive technologies (ART) opened a new era in the field of correction of infertile marriage. As a result, more and more couples choose to solve this problem by means of aided reproductive technologies (ART): in-vitro fertilization (IVF) and embryo transfer (ET)...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28800668/-epidemiology-risk-factors-and-risk-stratification-of-venous-thromboembolism-in-pregnancy-and-the-puerperium
#20
Panagiotis Tsikouras, Georg-Friedrich von Tempelhoff, Werner Rath
Venous thromboembolism (VTE) remains a leading cause of direct maternal deaths in the developed countries. The incidence of VTE has increased significantly during the past two decades. The absolute risk of VTE is estimated 0.6-2.2 per 1000 deliveries. Compared with age-matched non-pregnant women, the daily risk of VTE is increased 7- to 10-fold for antepartum VTE, but it is 15- to 35-fold for postpartum VTE. The incidence of pulmonary embolism (PE) during the first 6 weeks postpartum is nearly 15-fold higher compared to the incidence in pregnancy, and remains significantly increased up to 12 weeks postpartum...
August 2017: Zeitschrift Für Geburtshilfe und Neonatologie
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