Read by QxMD icon Read


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
Mahmoud Mohammed Sirdah, Abdelnasser Kassem Abushahla, Bahaa Yousif Ghalayeni, Ahmed Gamel Aburamadan
The inability to procreate is frequently considered a personal tragedy and a hardship for couples, impacting on the entire family and even the local community. In Gaza strip, Palestine, there has been no study on etiological risk factors for subfertility. The present study aimed to identify risk factors associated with subfertility among women in Gaza, Palestine. One hundred and sixty-nine women in the study group and 115 women in the control group were included. Cases were selected randomly from those referred to the Al Basma Fertility Center, Gaza, Palestine...
March 2013: Journal of Biomedical Research
Amy A Gelfand, Lisa A Croen, Anthony R Torres, Yvonne W Wu
The cause of perinatal arterial ischemic stroke is unknown in most cases. We explored whether genetic polymorphisms modify the risk of perinatal arterial ischemic stroke. In a population-based case-control study of 1997-2002 births at Kaiser Permanente Northern California, we identified 13 white infants with perinatal arterial ischemic stroke. Control subjects included 86 randomly selected white infants. We genotyped polymorphisms in nine genes involved in inflammation, thrombosis, or lipid metabolism previously linked with stroke, and compared genotype frequencies in case and control individuals...
January 2013: Pediatric Neurology
P Ivanov, Sv Gecheva, Tsv Tsvyatkovska, A Izmailov, R Komsa-Penkova, K Kovacheva, E Konova, M Simeonova, St Tanchev
Maternal thrombophilia was recently discussed as possible cause for pregnancy complication, although the roles of some coagulation factors have not been clarified. Carrier status for platelet integrin beta3 polymorphism A1/A2 (PL A1/A2) was considered as possible risk factor for pregnancy complication. Seventy women with one or more stillbirth (intrauterine fetal death after 20 week of gestation) and 100 healthy control subjects were evaluated for PL A1/A2 to assess the impact of polymorphism for late pregnancy loss...
2012: Akusherstvo i Ginekologii︠a︡
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"