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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...
July 2017: Wiener Klinische Wochenschrift
Inna Tzoran, Manolis Papadakis, Benjamin Brenner, Ángeles Fidalgo, Agustina Rivas, Philip S Wells, Olga Gavín, María Dolores Adarraga, Farès Moustafa, Manuel Monreal
BACKGROUND: Individuals with factor V Leiden or prothrombin G20210A mutations are at a higher risk to develop venous thromboembolism. However, the influence of these polymorphisms on patient outcome during anticoagulant therapy has not been consistently explored. METHODS: We used the Registro Informatizado de Enfermedad TromboEmbólica database to compare rates of venous thromboembolism recurrence and bleeding events occurring during the anticoagulation course in factor V Leiden carriers, prothrombin mutation carriers, and noncarriers...
April 2017: American Journal of Medicine
A Jusić-Karić, R Terzić, Z Jerkić, A Avdić, M Pođanin
The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
A V Ivanov, A G Dedul, Y N Fedotov, E V Komlichenko
BACKGROUND: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP...
October 2016: Gynecological Endocrinology
E E Starostina, L M Samokhodskaya, T P Rozina, T N Krasnova, E B Yarovaya, N A Mukhin
AIM: to estimate the clinical and prognostic value of the carriage of different allele variants of the gene polymorphisms of the coagulation system and platelet receptors in the progression of liver fibrosis (LF) in patient with chronic hepatitis C (CHC). SUBJECTS AND METHODS: The investigation enrolled 177 patients with CHC and liver cirrhosis at its outcome who were divided into 2 groups according to the rate of LF progression: 1) 89 patients with rapid (rapid fibrosis) and 2) 88 patients with slow (slow fibrosis) progression...
2016: Terapevticheskiĭ Arkhiv
Natalia Y Stoeva, Vessela S Koleva
Prothrombin 20210 G>A mutation is the second most frequent inherited factor increasing the risk for developing venous thromboembolism (VTE). The risk for VTE in homozygous carriers of this mutation is not well studied because of their rarity are rare. We report a case of a homozygous carrier of prothrombin mutation: a young man with massive pulmonary embolism, and his family - an asymptomatic homozygous sister, heterozygous parents with asymptomatic mother, and father with history of deep venous thrombosis (DVT)...
March 1, 2016: Folia Medica
Milka Klincheva, Elena Ambarkova Vilarova, Tanja Angjusheva, Ivan Milev, Enver Idoski, Zan Mitrev
INTRODUCTION: Myocardial infarction is a rare medical event in young people. The main reasons include congenital coronary abnormalities, coronary artery spasm, and coronary thrombosis due to hypercoagulable states (hereditary and acquired). AIM: We present a case of a young male adult with myocardial infarction caused by a combination of gene mutations and anticoagulation protein deficiency. CASE PRESENTATION: A 19 years old young man was admitted to our hospital complaining of chest pain during the last two weeks...
March 15, 2016: Open Access Macedonian Journal of Medical Sciences
Soudabeh Hosseini, Ebrahim Kalantar, Maryam Sadat Hosseini, Shadi Tabibian, Morteza Shamsizadeh, Akbar Dorgalaleh
BACKGROUND: Venous thromboembolism (VTE) could be manifested as deep venous thrombosis (DVT) or pulmonary embolism (PE). DVT is usually the more common manifestation and is usually formation of a thrombus in the deep veins of lower extremities. DVT could occur without known underlying cause (idiopathic thrombosis) which could be a consequence of an inherited underlying risk factor or could be a consequence of provoking events, such as trauma, surgery or acute illness (provoked thrombosis)...
2015: Thrombosis Journal
César Zavala-Hernández, Edgar Hernández-Zamora, Carlos Martínez-Murillo, Abraham Majluf-Cruz, Jorge Vela-Ojeda, Jaime García-Chávez, Elba Reyes-Maldonado
BACKGROUND: To identify inherited factors: Protein C (PC), protein S (PS), antithrombin (AT), plasminogen (Plg), the activated PC resistance (APCR), prothrombin (PT) mutation G20210 A (PTG20210 A) and methylenetetrahydrofolate reductase C677 T polymorphism (MTHFR C677 T), as well as acquired-risk factors such as: diabetes mellitus, surgeries, smoking, obesity, hypertension, trauma, alcoholism, family history; and their association, in Mexican patients with diagnostic of thrombophilia...
November 2015: Annals of Vascular Surgery
Çağın Mustafa Üreyen, Cem Yunus Baş, Şakir Arslan
We discuss the case of a 46-year-old male patient presenting to the emergency department with acute inferior myocardial infarction. Coronary angiography demonstrated a vasospasm of the left main coronary artery and proximal segment of the left anterior descending artery. Furthermore, a thrombotic total occlusion was ascertained in the right coronary artery. The vasospasm in the left main and left anterior descending artery disappeared after nitrate administration. We successfully implanted a stent to the thrombotic occlusion in the right coronary artery after predilatation...
June 27, 2015: Cardiology
Maria Prat, Cristian Morales-Indiano, Carme Jimenez, Virgina Mas, Carles Besses, Miguel A Checa, Ramon Carreras
Recurrent pregnancy loss is considered when a female undergoes at least two consecutive, spontaneous abortions or more than two alternatively. This condition affects approximately 5% of women in reproductive age. Several causes of recurrent abortion have been established, but nevertheless, approximately half of all cases remain unexplained. Thrombophilic disorders have been suggested as a possible cause of recurrent miscarriage. A single 20210 G-A mutation of the 3'-untranslated region of (F2) has been reported as a cause of inherited thrombophilia...
2014: Annals of Clinical and Laboratory Science
Xi Wang, Tingting Bai, Shengnan Liu, Hong Pan, Binbin Wang
OBJECTIVE: To estimate the relationship between the risk of preeclampsia and two thrombophilia gene single-nucleotide polymorphisms (SNPs), the factor V G1691A SNP and the prothrombin G20210A SNP. DATE SOURCES: A systematic search of the English-language literature up to November 2012 was performed using Medline and EMBASE. Search terms included "preeclampsia," "thrombophilia," "factor V Leiden," "prothrombin gene 20210," and their combinations. RESULT(S): Thirty-seven studies with 5048 preeclampsia patients and 6796 controls were included in the meta-analysis...
2014: PloS One
Alessandro Marturano, Loredana Bury, Paolo Gresele
BACKGROUND: The GeneXpert analyzer is a hands-off system for the detection of Factor V Leiden and of Prothrombin G20210A (GPRO) gene thrombophilic mutations. Although the system is efficient and easy to use, we report the rare possibility of incorrect genotyping. METHODS: 1648 samples were evaluated using the GeneXpert HemosIL Factor II and Factor V assay: 1319 were freshly analyzed while 329 were frozen, thawed and diluted with saline prior to analysis to avoid clogging of the instrument syringe...
August 5, 2014: Clinica Chimica Acta; International Journal of Clinical Chemistry
S M Schellong
Thrombophilia testing denotes a test battery for inherited or acquired features associated with a tendency for clot formation. Currently, it is being used in a frequency and to an extent which is not supported by evidence. In order to protect patients from unnecessary worry and stigmatization, but also for reasons of cost effectiveness, thrombophilia testing should be reduced to a very small number of medically justifiable indications which are outlined in this review.Those indications include the following: secondary prevention of venous thromboembolism in patients from a thrombophilic family, i...
May 2014: Der Internist
Recep Has, Aytul Corbacioglu Esmer, Ibrahim H Kalelioglu, Harika Yumru, Atil Yüksel, Orhan Ziylan
We report a case of renal vein thrombosis diagnosed at 27 weeks of gestation in a dichorionic twin pregnancy. The left kidney of one fetus was hyperechoic and enlarged with echoic streaks following the direction of interlobular veins and the loss of corticomedullary differentiation. In the following weeks, left kidney became smaller and echoic, and Doppler examination showed no flow in both artery and vein. The right kidney had totally normal appearance in the beginning, but it became enlarged and hyperechoic, and progressed into a small echoic kidney with no flow in artery and vein...
April 2014: Journal of Obstetrics and Gynaecology Research
Mehmet Karaca, Burcu Hismi, Riza Koksal Ozgul, Sefayet Karaca, Didem Yucel Yilmaz, Turgay Coskun, Hatice Serap Sivri, Aysegul Tokatli, Ali Dursun
Classical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients...
January 25, 2014: Gene
Jose A Gómez-Puerta, Pilar Peris, Joan Carles Reverter, Gerard Espinosa, Angeles Martinez-Ferrer, Ana Monegal, Juan Monteagudo, Dolors Tàssies, Nuria Guañabens
Multifocal or multiple osteonecrosis (ON), defined by the involvement of 3 or more anatomic sites, is unusual, being observed in only 3%-10% of patients diagnosed with ON. We report the clinical characteristics of a cohort of 29 patients with multifocal ON from a single center and evaluate the prevalence of associated prothrombotic abnormalities in 26 of these patients. We conducted a retrospective study of all patients diagnosed with multifocal ON evaluated in our institution during the last 20 years. We recorded clinical manifestations and underlying diagnoses...
November 2013: Medicine (Baltimore)
Paulo Ricardo Criado, Afsaneh Alavi, Ilana Halpern, Mirian Nacagami Sotto, Robert S Kirsner
Livedoid vasculopathy is a bilateral painful and recurrent cutaneous ulcerative disorder of the legs that leads to atrophie blanche, atrophic white-porcelain scars, and is associated with disorders of fibrinolysis and/or coagulation. We present a young boy with an association between livedoid vasculopathy in the area of a previous involuted cutaneous hemangioma. We found 4 uncommon abnormalities associated with thrombo-occlusive events: heterozygous 20210 A→G genotype of prothrombin, reduced activity of anticoagulation proteins C and S, and elevated lipoprotein (a)...
December 2013: International Journal of Lower Extremity Wounds
Jasna Leniček Krleža, Vlasta Ðuranović, Ana Bronić, Desiree Coen Herak, Vlatka Mejaški-Bošnjak, Renata Zadro
AIM: To determine the frequency of inherited and acquired prothrombotic risk factors in children with arterial ischemic stroke (AIS) and transient ischemic attacks (TIA) in Croatia. METHODS: We investigated 14 prothrombotic risk factors using blood samples from 124 children with AIS or TIA and 42 healthy children. Prothrombotic risk factors were classified into five groups: natural coagulation inhibitors (antithrombin, protein C, protein S), blood coagulation factors (FV Leiden and FII 20210), homocysteine, lipid and lipoprotein profile (lipoprotein (a), triglycerides, total, high- and low-density lipoprotein), and antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, and antiphosphatidylserine antibodies)...
August 2013: Croatian Medical Journal
Kristin Baumann, Petra Beuter-Winkler, Andreas Hackethal, Thomas Strowitzki, Bettina Toth, Michael K Bohlmann
BACKGROUND: We analysed the prevalence of the most common hereditary thrombophilia (hTP) - factor V Leiden (FVL) mutation, prothrombin 20210 G>A substitution (PT) - and the 677 C>T replacement in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Caucasian patients with a history of two and more consecutive recurrent miscarriages (RMs) as compared to healthy controls with an identical ethnic background and at least one live birth. METHODS: A multicenter analysis of three hTP was performed in 641 RM patients identically screened at specialized university centres...
December 2013: American Journal of Reproductive Immunology: AJRI
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