600 results on '"Inherited thrombophilia"'
Search Results
2. How Inherited Thrombophilia Affects Success Rate of IVF Treatment in Women
- Author
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Ajayi, Damilola M., Ajayi, Emmanuel, Magjarević, Ratko, Series Editor, Ładyżyński, Piotr, Associate Editor, Ibrahim, Fatimah, Associate Editor, Lackovic, Igor, Associate Editor, Rock, Emilio Sacristan, Associate Editor, Badnjević, Almir, editor, and Gurbeta Pokvić, Lejla, editor
- Published
- 2024
- Full Text
- View/download PDF
3. Impact of Inherited Thrombophilia in Women with Obstetric Antiphospholipid Syndrome: A Single-Center Study and Literature Review.
- Author
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Camacho Sáez, Blanca, Martínez-Taboada, Víctor M., Merino, Ana, Comins-Boo, Alejandra, González-Mesones, Belén, Del Barrio-Longarela, Sara, Riancho-Zarrabeitia, Leyre, López-Hoyos, Marcos, and Hernández, José L.
- Subjects
ANTIPHOSPHOLIPID syndrome ,LITERATURE reviews ,MISCARRIAGE ,PREGNANCY outcomes ,HYPERCOAGULATION disorders ,ABRUPTIO placentae - Abstract
Inherited thrombophilia (IT) has been implicated as a potential causal factor of adverse pregnancy outcomes (APOs), including recurrent miscarriage with and without the presence of antiphospholipid syndrome (APS). The aim of this study was to assess the prevalence and impact of IT on fetal–maternal outcomes and thrombotic risk in women within the spectrum of obstetric APS. Three hundred and twenty-eight women with APS-related obstetric morbidity ever pregnant were included. Of these, 74 met the APS classification criteria, 169 were non-criteria (NC)-APS, and 85 were seronegative (SN)-APS. Patients with other autoimmune diseases were excluded. APOs included early pregnancy loss, fetal death, preeclampsia, abruptio placentae, and preterm birth. Successful pregnancy was defined as the achievement of a live newborn. A literature search was also performed. The mean age of the overall group was 33.9 ± 5.3 years, and the patients were followed up for 35 (11–79) months. During the study period, there were 1332 pregnancies. Nearly 14% of the patients had an associated IT. IT patients more frequently received the standard-of-care (SoC) therapy. The presence of IT was not associated with worse maternal–fetal outcomes in patients treated with SoC treatment. Overall, IT patients had a lower frequency of newborns without treatment, especially those without definite APS. In addition, IT did not increase the risk of thrombosis during pregnancy or the postpartum period. A detailed analysis of the literature review identified only four publications related to our study and did not show conclusive evidence of the impact of IT on patients with obstetric APS. The group of women with APS-related obstetric morbidity and IT who did not receive treatment, especially those without definite APS, had a worse prognosis in terms of a live birth. However, with SoC therapy, the prognosis is similar in those patients without IT. The association of IT with APS does not seem to predispose to the development of thrombosis during pregnancy and/or the postpartum period. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
4. Impact of Thrombophilic Polymorphisms in Antenatal Women on Perinatal Health: A Single-Center Prospective Study.
- Author
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Sokol Karadjole, Vesna, D'Amato, Antonio, Milošević, Milan, Herman, Mislav, Mikuš, Mislav, Laganà, Antonio Simone, Chiantera, Vito, and Etrusco, Andrea
- Subjects
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PREGNANT women , *ACTIVATED protein C resistance , *PREGNANCY complications , *FETAL growth retardation , *PREGNANCY outcomes , *PLACENTA diseases , *FACTOR V Leiden - Abstract
Background: Despite pregnancy's hypercoagulable state, the correlation between inherited thrombophilia and thrombotic adverse pregnancy outcomes remains uncertain. The objective of this study was to determine the prevalence of inherited thrombophilic polymorphisms among asymptomatic pregnant individuals and to examine their potential correlation with adverse perinatal outcomes. Methods: in this single-center prospective study, 105 healthy pregnant women were included. Genotyping was conducted for factor V Leiden (FVL), prothrombin gene mutation, methylenetetrahydrofolate reductase enzyme (MTHFR) C677T, MTHFR A1298C, and plasminogen activator inhibitor-1 (PAI-1), alongside the assessment of protein C (PC), protein S (PS), and antithrombin (AT) levels. The study analyzed the association between inherited thrombophilic polymorphisms and pregnancy complications linked to placental insufficiency, such as gestational hypertension (GH), preeclampsia (PE), intrauterine death (IUD), fetal growth restriction (FGR), and placental abruption. Results: The prevalence of identifiable thrombophilic polymorphism mutations was 61.9% (95% confidence interval—CI 52.4–70.8%), with the most common single mutation being PAI-1 4G/5G (12/105, 11.4%, 95% CI 6.4–18.5). The most frequent combined mutation was heterozygosity for MTHFR C677T and PAI-1 (12/105, 11.4%, 95% CI 6.4–18.5). Notably, no FVL homozygous carriers or single homozygous and heterozygous carriers for prothrombin polymorphisms were found. Additionally, no deficiencies in PC and AT were detected among participants. Except for homozygosity for PAI-1, none of the studied polymorphisms demonstrated a significant association with pregnancy complications linked to placental insufficiency. Conclusions: The asymptomatic carriers of inherited thrombophilic polymorphisms do not have an increased risk of adverse perinatal outcomes. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
5. Gene Dosage of F5 c.3481C>T Stop-Codon (p.R1161Ter) Switches the Clinical Phenotype from Severe Thrombosis to Recurrent Haemorrhage: Novel Hypotheses for Readthrough Strategy.
- Author
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Gemmati, Donato, D'Aversa, Elisabetta, Antonica, Bianca, Grisafi, Miriana, Salvatori, Francesca, Pizzicotti, Stefano, Pellegatti, Patrizia, Ciccone, Maria, Moratelli, Stefano, Serino, Maria Luisa, and Tisato, Veronica
- Subjects
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ALTERNATIVE RNA splicing , *VENOUS thrombosis , *BLOOD coagulation , *GENE expression , *THROMBOSIS , *PHENOTYPES , *RODENTICIDES - Abstract
Inherited defects in the genes of blood coagulation essentially express the severity of the clinical phenotype that is directly correlated to the number of mutated alleles of the candidate leader gene (e.g., heterozygote vs. homozygote) and of possible additional coinherited traits. The F5 gene, which codes for coagulation factor V (FV), plays a two-faced role in the coagulation cascade, exhibiting both procoagulant and anticoagulant functions. Thus, defects in this gene can be predisposed to either bleeding or thrombosis. A Sanger sequence analysis detected a premature stop-codon in exon 13 of the F5 gene (c.3481C>T; p.R1161Ter) in several members of a family characterised by low circulating FV levels and contrasting clinical phenotypes. The propositus, a 29 y.o. male affected by recurrent haemorrhages, was homozygous for the F5 stop-codon and for the F5 c.1691G>A (p.R506Q; FV-Leiden) inherited from the heterozygous parents, which is suggestive of combined cis-segregation. The homozygous condition of the stop-codon completely abolished the F5 gene expression in the propositus (FV:Ag < 1%; FV:C < 1%; assessed by ELISA and PT-based one-stage clotting assay respectively), removing, in turn, any chance for FV-Leiden to act as a prothrombotic molecule. His father (57 y.o.), characterised by severe recurrent venous thromboses, underwent a complete molecular thrombophilic screening, revealing a heterozygous F2 G20210A defect, while his mother (56 y.o.), who was negative for further common coagulation defects, reported fully asymptomatic anamnesis. To dissect these conflicting phenotypes, we performed the ProC®Global (Siemens Helthineers) coagulation test aimed at assessing the global pro- and anticoagulant balance of each family member, investigating the responses to the activated protein C (APC) by means of an APC-sensitivity ratio (APC-sr). The propositus had an unexpectedly poor response to APC (APC-sr: 1.09; n.v. > 2.25), and his father and mother had an APC-sr of 1.5 and 2.0, respectively. Although ProC®Global prevalently detects the anticoagulant side of FV, the exceptionally low APC-sr of the propositus and his discordant severe–moderate haemorrhagic phenotype could suggest a residual expression of mutated FV p.506QQ through a natural readthrough or possible alternative splicing mechanisms. The coagulation pathway may be physiologically rebalanced through natural and induced strategies, and the described insights might be able to track the design of novel treatment approaches and rebalancing molecules. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
6. Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia.
- Author
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Gogu, Anca Elena, Jianu, Dragos Catalin, Parv, Florina, Motoc, Andrei Gheorghe Marius, Axelerad, Any, Stuparu, Alina Zorina, and Gogu, Andreea Alexandra
- Subjects
MOLECULAR genetics ,SYNCOPE ,SINUS thrombosis ,BUNDLE-branch block ,FACTOR V Leiden ,HYPERCOAGULATION disorders ,SYNDROMES - Abstract
Background: Kearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes withmultisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V G1691A Leiden mutation, MTHFR gene polymorphisms C677T and A1298C, and PAI-1 675 homozygous genotype 5G/5G. Case presentation: This case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac arrest) with electrocardiographic abnormalities (first-degree atrioventricular block and major right bundle branch block), endocrine dysfunction (short stature, growth hormone insufficiency, primary gonadal insufficiency, hypothyroidism, and secondary hyperparathyroidism), molecular genetic tests (MT-TL2 gene), and abnormal MRI brain images, thus leading to the diagnosis of KSS. The patient came back 4 weeks after the diagnosis to the emergency department with massive bilateral pulmonary embolism with syncope at onset, acute cardiorespiratory failure, deep left femoral-popliteal vein thrombophlebitis, and altered neurological status. In the intensive care unit, he received mechanical ventilation through intubation. Significant improvement was seen after 2 weeks. The patient tested positive for inherited thrombophilia and was discharged in stable conditions on a new treatment with Rivaroxaban 20 mg/day. At 6 months of follow-up, ECG-Holter monitoring and MRI brain images remained unchanged. However, after 3 months, the patient died suddenly while sleeping at home. Conclusion: The genetic tests performed on KSS patients should also include those for inherited thrombophilia. By detecting these mutations, we can prevent major complications such as cerebral venous sinus thrombosis, coronary accidents, or sudden death. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
7. Inherited Thrombophilia and Risk of Thrombosis in Children with Cancer: a Single-center Experience.
- Author
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Đordević, Ana, Grahovac, Blaženka, Šegulja, Silvije, Zulle, Lidija Bilić, and Roganović, Jelena
- Subjects
- *
CHILDHOOD cancer , *FACTOR V Leiden , *THROMBOSIS , *CENTRAL venous catheters , *HYPERCOAGULATION disorders - Abstract
Objectives. Thrombosis is an increasingly recognized complication of childhood malignancy and its treatment. The incidence and etiology of pediatric cancer-related thrombosis is still not well understood. The aim of this study was to evaluate the prevalence of common prothrombotic genetic conditions in children with cancer, the frequency of thrombosis, and the role of inherited thrombophilia in the development of thrombosis in a pediatric oncology population. Patients and Methods. Forty-seven children (36 treated for hematological malignancies and 11 for solid tumors) with a median age of 8.8. years (range 0.4 - 19.3 years) were included in the study. Genetic polymorphisms of Factor V Leiden (G1691A), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T were determined by real-time polymerase chain reaction-based DNA analysis. Results. Four (8.5%) patients were heterozygous for Factor V Leiden, 3 (6.4%) were heterozygous for prothrombin G20210A mutation, and 3 (6.4%) were homozygous for MTHFR C677T mutation. All patients had implanted central venous catheters. Four (8.5%) children had documented thrombosis, three of which were in the upper venous system. Two of the four patients with thrombosis had Factor V Leiden heterozygosity. Conclusions. Thrombosis is an important complication of childhood cancer. The risk of thrombosis may be increased in patients with Factor V Leiden. In the absence of consensus guidelines, our results support the recommendation for thrombophilia screening in children with cancer. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
8. Thrombophilia and ischemic stroke.
- Author
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Musiał, Jacek
- Subjects
HYPERCOAGULATION disorders ,ISCHEMIC stroke ,FIBRINOLYTIC agents ,FORAMEN magnum ,ARRHYTHMIA - Abstract
Ischemic stroke is mainly provoked by atherosclerotic changes in cerebral arteries or thromboembolic episodes related to cardiac arrhythmias. Less frequently, especially in the younger patients stroke may be related to hypercoagulable states. Detection of thrombophilia requires specialized diagnostic procedures and in some situations change patients' management. Presence of thrombophilia may influence decision to close patent foramen ovale in a patient after ischemic stroke. On the other hand, antiphospholipid syndrome diagnosis influences the choice of antithrombotic treatment in the secondary prevention of stroke. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
9. Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia
- Author
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Anca Elena Gogu, Dragos Catalin Jianu, Florina Parv, Andrei Gheorghe Marius Motoc, Any Axelerad, Alina Zorina Stuparu, and Andreea Alexandra Gogu
- Subjects
Kearns-Sayre syndrome (KSS) ,inherited thrombophilia ,heart conduction block ,brain magnetic resonance imaging ,genetic tests ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
BackgroundKearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V G1691A Leiden mutation, MTHFR gene polymorphisms C677T and A1298C, and PAI-1 675 homozygous genotype 5G/5G.Case presentationThis case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac arrest) with electrocardiographic abnormalities (first-degree atrioventricular block and major right bundle branch block), endocrine dysfunction (short stature, growth hormone insufficiency, primary gonadal insufficiency, hypothyroidism, and secondary hyperparathyroidism), molecular genetic tests (MT-TL2 gene), and abnormal MRI brain images, thus leading to the diagnosis of KSS. The patient came back 4 weeks after the diagnosis to the emergency department with massive bilateral pulmonary embolism with syncope at onset, acute cardiorespiratory failure, deep left femoral-popliteal vein thrombophlebitis, and altered neurological status. In the intensive care unit, he received mechanical ventilation through intubation. Significant improvement was seen after 2 weeks. The patient tested positive for inherited thrombophilia and was discharged in stable conditions on a new treatment with Rivaroxaban 20 mg/day. At 6 months of follow-up, ECG-Holter monitoring and MRI brain images remained unchanged. However, after 3 months, the patient died suddenly while sleeping at home.ConclusionThe genetic tests performed on KSS patients should also include those for inherited thrombophilia. By detecting these mutations, we can prevent major complications such as cerebral venous sinus thrombosis, coronary accidents, or sudden death.
- Published
- 2024
- Full Text
- View/download PDF
10. Impact of Inherited Thrombophilia in Women with Obstetric Antiphospholipid Syndrome: A Single-Center Study and Literature Review
- Author
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Blanca Camacho Sáez, Víctor M. Martínez-Taboada, Ana Merino, Alejandra Comins-Boo, Belén González-Mesones, Sara Del Barrio-Longarela, Leyre Riancho-Zarrabeitia, Marcos López-Hoyos, and José L. Hernández
- Subjects
inherited thrombophilia ,pregnancy ,obstetric morbidity ,fetal loss ,antiphospholipid syndrome ,antiphospholipid antibodies ,Biology (General) ,QH301-705.5 - Abstract
Inherited thrombophilia (IT) has been implicated as a potential causal factor of adverse pregnancy outcomes (APOs), including recurrent miscarriage with and without the presence of antiphospholipid syndrome (APS). The aim of this study was to assess the prevalence and impact of IT on fetal–maternal outcomes and thrombotic risk in women within the spectrum of obstetric APS. Three hundred and twenty-eight women with APS-related obstetric morbidity ever pregnant were included. Of these, 74 met the APS classification criteria, 169 were non-criteria (NC)-APS, and 85 were seronegative (SN)-APS. Patients with other autoimmune diseases were excluded. APOs included early pregnancy loss, fetal death, preeclampsia, abruptio placentae, and preterm birth. Successful pregnancy was defined as the achievement of a live newborn. A literature search was also performed. The mean age of the overall group was 33.9 ± 5.3 years, and the patients were followed up for 35 (11–79) months. During the study period, there were 1332 pregnancies. Nearly 14% of the patients had an associated IT. IT patients more frequently received the standard-of-care (SoC) therapy. The presence of IT was not associated with worse maternal–fetal outcomes in patients treated with SoC treatment. Overall, IT patients had a lower frequency of newborns without treatment, especially those without definite APS. In addition, IT did not increase the risk of thrombosis during pregnancy or the postpartum period. A detailed analysis of the literature review identified only four publications related to our study and did not show conclusive evidence of the impact of IT on patients with obstetric APS. The group of women with APS-related obstetric morbidity and IT who did not receive treatment, especially those without definite APS, had a worse prognosis in terms of a live birth. However, with SoC therapy, the prognosis is similar in those patients without IT. The association of IT with APS does not seem to predispose to the development of thrombosis during pregnancy and/or the postpartum period.
- Published
- 2024
- Full Text
- View/download PDF
11. Impact of Thrombophilic Polymorphisms in Antenatal Women on Perinatal Health: A Single-Center Prospective Study
- Author
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Vesna Sokol Karadjole, Antonio D’Amato, Milan Milošević, Mislav Herman, Mislav Mikuš, Antonio Simone Laganà, Vito Chiantera, and Andrea Etrusco
- Subjects
inherited thrombophilia ,healthy antenatal population ,perinatal outcome ,Medicine - Abstract
Background: Despite pregnancy’s hypercoagulable state, the correlation between inherited thrombophilia and thrombotic adverse pregnancy outcomes remains uncertain. The objective of this study was to determine the prevalence of inherited thrombophilic polymorphisms among asymptomatic pregnant individuals and to examine their potential correlation with adverse perinatal outcomes. Methods: in this single-center prospective study, 105 healthy pregnant women were included. Genotyping was conducted for factor V Leiden (FVL), prothrombin gene mutation, methylenetetrahydrofolate reductase enzyme (MTHFR) C677T, MTHFR A1298C, and plasminogen activator inhibitor-1 (PAI-1), alongside the assessment of protein C (PC), protein S (PS), and antithrombin (AT) levels. The study analyzed the association between inherited thrombophilic polymorphisms and pregnancy complications linked to placental insufficiency, such as gestational hypertension (GH), preeclampsia (PE), intrauterine death (IUD), fetal growth restriction (FGR), and placental abruption. Results: The prevalence of identifiable thrombophilic polymorphism mutations was 61.9% (95% confidence interval—CI 52.4–70.8%), with the most common single mutation being PAI-1 4G/5G (12/105, 11.4%, 95% CI 6.4–18.5). The most frequent combined mutation was heterozygosity for MTHFR C677T and PAI-1 (12/105, 11.4%, 95% CI 6.4–18.5). Notably, no FVL homozygous carriers or single homozygous and heterozygous carriers for prothrombin polymorphisms were found. Additionally, no deficiencies in PC and AT were detected among participants. Except for homozygosity for PAI-1, none of the studied polymorphisms demonstrated a significant association with pregnancy complications linked to placental insufficiency. Conclusions: The asymptomatic carriers of inherited thrombophilic polymorphisms do not have an increased risk of adverse perinatal outcomes.
- Published
- 2024
- Full Text
- View/download PDF
12. Frequency of various factors affecting pregnancy loss in patients with history of recurrent pregnancy loss in Sistan and Balouchestan province, 2017-2018
- Author
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Narjes Nouri, Farnoosh Sadat Ghasemi Hasemi, Javid Dehghan, and Marzieh Ghasemi
- Subjects
anatomical disorders ,endocrine ,endometritis ,inherited thrombophilia ,recurrent pregnancy loss ,Gynecology and obstetrics ,RG1-991 - Abstract
Introduction: Recurrent pregnancy loss refers to the occurrence of two or more consecutive abortions before the 20th week of pregnancy, which has a high prevalence and it is necessary to identify the factors affecting it. Therefore, this study was performed with aim to investigate the frequency of various factors affecting pregnancy loss in patients with history of recurrent pregnancy loss. Methods: This cross-sectional study was performed on 280 women with at least two abortions less than 20 weeks who had referred to the only infertility treatment center in Sistan and Balouchestan province in 2017-2018. Data related to abortion was collected based on the patients' file. Data were analyzed using SPSS software (version 20) and Kolmogorov-Smirnov test with lilliefors correction, Student t, Mann-Whitney and Fisher's exact tests. P
- Published
- 2023
- Full Text
- View/download PDF
13. Gene Dosage of F5 c.3481C>T Stop-Codon (p.R1161Ter) Switches the Clinical Phenotype from Severe Thrombosis to Recurrent Haemorrhage: Novel Hypotheses for Readthrough Strategy
- Author
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Donato Gemmati, Elisabetta D’Aversa, Bianca Antonica, Miriana Grisafi, Francesca Salvatori, Stefano Pizzicotti, Patrizia Pellegatti, Maria Ciccone, Stefano Moratelli, Maria Luisa Serino, and Veronica Tisato
- Subjects
premature stop-codon (PTC) ,FV Leiden ,cis-segregation ,inherited thrombophilia ,blood coagulation ,readthrough ,Genetics ,QH426-470 - Abstract
Inherited defects in the genes of blood coagulation essentially express the severity of the clinical phenotype that is directly correlated to the number of mutated alleles of the candidate leader gene (e.g., heterozygote vs. homozygote) and of possible additional coinherited traits. The F5 gene, which codes for coagulation factor V (FV), plays a two-faced role in the coagulation cascade, exhibiting both procoagulant and anticoagulant functions. Thus, defects in this gene can be predisposed to either bleeding or thrombosis. A Sanger sequence analysis detected a premature stop-codon in exon 13 of the F5 gene (c.3481C>T; p.R1161Ter) in several members of a family characterised by low circulating FV levels and contrasting clinical phenotypes. The propositus, a 29 y.o. male affected by recurrent haemorrhages, was homozygous for the F5 stop-codon and for the F5 c.1691G>A (p.R506Q; FV-Leiden) inherited from the heterozygous parents, which is suggestive of combined cis-segregation. The homozygous condition of the stop-codon completely abolished the F5 gene expression in the propositus (FV:Ag < 1%; FV:C < 1%; assessed by ELISA and PT-based one-stage clotting assay respectively), removing, in turn, any chance for FV-Leiden to act as a prothrombotic molecule. His father (57 y.o.), characterised by severe recurrent venous thromboses, underwent a complete molecular thrombophilic screening, revealing a heterozygous F2 G20210A defect, while his mother (56 y.o.), who was negative for further common coagulation defects, reported fully asymptomatic anamnesis. To dissect these conflicting phenotypes, we performed the ProC®Global (Siemens Helthineers) coagulation test aimed at assessing the global pro- and anticoagulant balance of each family member, investigating the responses to the activated protein C (APC) by means of an APC-sensitivity ratio (APC-sr). The propositus had an unexpectedly poor response to APC (APC-sr: 1.09; n.v. > 2.25), and his father and mother had an APC-sr of 1.5 and 2.0, respectively. Although ProC®Global prevalently detects the anticoagulant side of FV, the exceptionally low APC-sr of the propositus and his discordant severe–moderate haemorrhagic phenotype could suggest a residual expression of mutated FV p.506QQ through a natural readthrough or possible alternative splicing mechanisms. The coagulation pathway may be physiologically rebalanced through natural and induced strategies, and the described insights might be able to track the design of novel treatment approaches and rebalancing molecules.
- Published
- 2024
- Full Text
- View/download PDF
14. Combination Treatment of Balloon Pulmonary Angioplasty and Direct Oral Anticoagulant in a Patient with Chronic Thromboembolic Pulmonary Hypertension Complicated by Protein S Deficiency.
- Author
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Izumida, Toshihide, Imamura, Teruhiko, Ushijima, Ryuichi, and Kinugawa, Koichiro
- Subjects
PROTEIN S deficiency ,TRANSLUMINAL angioplasty ,PULMONARY hypertension ,ORAL medication ,THROMBOEMBOLISM - Abstract
Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) is a phenotype of pulmonary hypertension due to chronic and multiple organized thrombus. The therapeutic strategy for patients with CTEPH and comorbid protein S deficiency remains unknown due to its rarity. Case: We encountered a 49-year-old male patient with CTEPH and concomitant mild protein S deficiency (type III). We could successfully perform balloon pulmonary angioplasty without any major complications, including thromboembolism and bleeding, followed by standard-dose oral anticoagulation therapy instead of warfarin. Conclusion: A currently established standard therapeutic strategy for CTEPH, including pulmonary angioplasty, may be safe and effective even in patients with concomitant inherent coagulation abnormalities. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
15. Venous Sinus Thrombosis
- Author
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Albin, Catherine S. W., Zafar, Sahar F., Albin, Catherine S.W., editor, and Zafar, Sahar F., editor
- Published
- 2022
- Full Text
- View/download PDF
16. Other Maternal Disorders Complicating Pregnancy
- Author
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Dahlstrom, Jane Esther, Arbuckle, Susan, Baergen, Rebecca N., editor, Burton, Graham J., editor, and Kaplan, Cynthia G., editor
- Published
- 2022
- Full Text
- View/download PDF
17. Hereditary Thrombophilia
- Author
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de Jesús, Guilherme Ramires, dos Santos, Flavia Cunha, Lacerda, Marcela Ignacchiti, Levy, Roger Abramino, de Jesús, Nilson Ramires, Moreira de Sá, Renato Augusto, editor, and Fonseca, Eduardo Borges da, editor
- Published
- 2022
- Full Text
- View/download PDF
18. Non-functional bladder paraganglioma in a patient with complex hematological disorders: case report
- Author
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Dragos Puia and Catalin Pricop
- Subjects
Bladder cancer ,Inherited thrombophilia ,Paraganglioma ,Case report ,Diseases of the genitourinary system. Urology ,RC870-923 - Abstract
Abstract Background Although bladder cancer is quite a common cancer, most common encounter being transitional cell carcinomas, paragangliomas with such localization, is a very rare histopathological finding. In addition, hematuria in a patient with a theoretically "hypercoagulable" condition is uncommon; in our case it was the single symptom. Case presentation We report the case of a 44-year-old female referred to our hospital for gross hematuria. The CT scan revealed an intraluminal enhancing bladder mass. Also, the XIII coagulation factor level was 36% and surprisingly genetic mutations suggesting inherited thrombophilia were found: MTHFR C677T negative, A1298C positive and PAI-1 gene polymorphism (675 4G/5G). The hematologist recommended folic acid 5 mgs daily. A TURBT was performed (macroscopically no residual tumor tissue). The immunohistochemical examination revealed tumor cells intensely positive to chromogranin and synaptophysin, negative for cytokeratin AE1/3, p63, 7, 20 or CDX2, and slight (less than 5%) positive for Ki-67. The combined examinations correspond to a bladder paraganglioma. Six months after surgery, the patient had no clinical symptoms and no relapse sonographically and cystoscopically. Conclusions Although a very rare entity, bladder paraganglioma should be suspected in patients with hematuria and unexplained hyperadrenalism symptoms such as hypertension, serious dizziness, headache or palpitation. The immunohistochemical examination is important not only for diagnosis but also for identifying the functionality of the tumors. In such cases the therapeutic management could be different as in transitional cell carcinomas.
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- 2022
- Full Text
- View/download PDF
19. Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19.
- Author
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Fevraleva, Irina, Mamchich, Daria, Vinogradov, Dmitriy, Chabaeva, Yulia, Kulikov, Sergey, Makarik, Tatiana, Margaryan, Vahe, Manasyan, Georgiy, Novikova, Veronika, Rachina, Svetlana, Melkonyan, Georgiy, and Lytkina, Karine
- Subjects
- *
COVID-19 , *OLDER patients , *GENETIC markers , *THROMBOSIS , *GENETIC carriers - Abstract
Thrombosis is an extremely dangerous complication in elderly patients with COVID-19. Since the first months of the pandemic, anticoagulants have been mandatory in treatment protocols for patients with COVID-19, unless there are serious contraindications. We set out to discover if genetic thrombophilia factors continue to play a triggering role in the occurrence of thrombosis in patients with COVID-19 with prophylactic or therapeutic anticoagulants. We considered the following genetic markers as risk factors for thrombophilia: G1691A in the FV gene, C677T and A1298C in the MTHFR gene, G20210A and C494T in the FII gene, and (−675) 4G/5G in the PAI-I gene. In a cohort of 176 patients, we did not obtain a reliable result indicating a higher risk of thrombotic complications when taking therapeutic doses of anticoagulants in carriers of genetic markers for thrombophilia except the C494T mutation in the FII gene. However, there was still a pronounced tendency to a higher incidence of thrombosis in patients with markers of hereditary thrombophilia, such as FV G1691A and FII G20210A mutations. The presence of the C494T (Thr165Met) allele in the FII gene in this group of patients showed a statistically significant effect of the mutation on the risk of thrombotic complications despite anticoagulant therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
20. Detection of Inherited Thrombophilic Mutations in Jordanian Children Suffering from Thrombotic Events.
- Author
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Al-naimat, Haneen H., Abbas, Manal A., Aladily, Tariq N., ALmahaharmeh, Muna A., and ALmomani, Lina M.
- Subjects
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VENOUS thrombosis , *SCHOOL children , *CEREBRAL veins , *SINUS thrombosis , *GENETIC testing - Abstract
Inherited thrombophilia is a coagulation condition that is linked to increased risk of thrombosis. This study investigates the prevalence of FV Leiden (G1691A), FV H1299R (HR2), FV Y1702C, MTHFR C677T, MTHFR A1298C, FII G20210A and PAI-1 mutations among children with thrombotic events. This single-center study included 60 Jordanian children of both sexes (4 days-18 years) admitted to hospital and diagnosed with thrombotic event of any type. The control group consisted of 50 healthy subjects. The presence of thrombophilic mutations was detected using polymerase chain reaction strip assay. The majority of thrombotic events (38.3%) were reported in children at school age (6-12 years) and in adolescents (26.7%) (13-18 years). The most common thrombotic events were deep vein thrombosis (35%) followed by cerebrovascular accidents (18.3%) and cerebral vein sinus thrombosis (16.6%). The most common thrombophilic mutations among children diagnosed with thrombotic events were PAI-1(4G/5G), MTHFR A1298C, MTHFR C677T and FV Leiden (G1691A) constituting 63.3%, 56.7%, 48.3%, and 41.7%, respectively. A statistically significant difference in the occurrence of mutations between the control group and children with thrombotic events was found only in FV Leiden (G1691A), MTHFR A1298C and FV H1299R. This study revealed that neither children with thrombotic events nor subjects in the control group carried the FV Y1702C mutation. In conclusion, the presence of FV Leiden (G1691A), MTHFR A1298C and FV H1299R mutations may be considered as a risk factor for thrombosis in children. Genetic testing of children with family history could play an important role in detecting high-risk subjects. [ABSTRACT FROM AUTHOR]
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- 2022
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21. Cerebral venous sinus thrombosis after COVID-19 vaccination and congenital deficiency of coagulation factors: Is there a correlation?
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Federica Mele, Silvio Tafuri, Pasquale Stefanizzi, Antonio D Amati, Mariagrazia Calvano, Mirko Leonardelli, Enrica Macorano, Stefano Duma, Giovanni De Gabriele, Francesco Introna, and Antonio De Donno
- Subjects
covid vaccines ,vaccines adverse reactions ,vaccine-induced thrombocytopenia ,inherited thrombophilia ,autopsy ,Immunologic diseases. Allergy ,RC581-607 ,Therapeutics. Pharmacology ,RM1-950 - Abstract
In January 2020, SARS-COV-2 infection spread worldwide and was declared “pandemic” by WHO. Because of the high contagiousness of the virus and devastating effects of the epidemic on public health, numerous efforts have been made to develop suitable vaccines to prevent the infection. Among the side effects developed by patients who undergone vaccination, there are common symptoms but also more serious reactions such as the thrombosis syndromes. This paper presents two cases of thrombosis temporally associated with live-vectored Covid vaccination similar to vaccine-induced thrombocytopenia (VITT) in patients with inherited thrombophilia (respectively, the deficiency of protein S and a Factor II mutation). The clinical manifestation caused by VITT is characterized by widespread thrombosis especially affecting intracranial venous sinus, which may cause massive bleeding and intracranial hemorrhage. Although this condition is widely described in literature, there is no evident correlation between this side effect and inherited condition of thrombophilia. The authors suggest that the presence of inherited thrombophilia should be better investigated and, if necessary, screened during the anamnestic data collection before the vaccine administration, leading the healthcare professional to choose the appropriate vaccine to the patient.
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- 2022
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22. Association between non-O blood type and early unexplained recurrent spontaneous abortion in women with and without inherited thrombophilia
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Anna Poretto, Elisabetta Borella, Giacomo Turatti, Michelangelo Marobin, Elena Campello, Daniela Tormene, Paolo Simioni, and Luca Spiezia
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recurrent spontaneous abortion ,inherited thrombophilia ,blood group ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
We retrospectively evaluated the prevalence of non-O blood type – the most frequently inherited prothrombotic factor – and inherited thrombophilia (IT) in a group of women with recurrent spontaneous abortion (RSA). All consecutive women with a history of early unexplained RSA who underwent a screening for IT between December 2008 and December 2021 were considered for enrolment. A group of healthy, age-matched women with ≥1 normal pregnancy and no adverse pregnancy outcomes acted as controls. Two hundred and seventeen women were enrolled. The adjusted odds ratio (aOR) of RSA in non-O vs. O blood type was 1.37 (95% CI, 1.04-2.78), and in women with vs. without IT was 1.26 (95% CI, 1.08-3.61); aOR of RSA in women with non-O blood type and IT was 2.52 (95% CI, 1.12-5.47). We observed a significant association between non-O blood group or IT and RSA. The concomitant presence of non-O blood group and IT further increases RSA risk.
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- 2022
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23. Low molecular weight heparin and pregnancy outcomes in women with inherited thrombophilia: A systematic review and meta‐analysis.
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Chen, Yan, Wang, Tingting, Liu, Xiaoling, Ye, Changxiang, Xing, Dexiu, Wu, Rong, Li, Fang, and Chen, Lizhang
- Subjects
- *
ENOXAPARIN , *RELATIVE medical risk , *VEINS , *META-analysis , *SCIENTIFIC observation , *CONFIDENCE intervals , *SYSTEMATIC reviews , *WOMEN , *PREGNANCY outcomes , *LOW-molecular-weight heparin , *PREGNANCY complications , *THROMBOEMBOLISM , *LONGITUDINAL method - Abstract
Aim: To determine whether the use of low molecular weight heparin (LMWH) improves the pregnancy outcomes in women with inherited thrombophilia by conducting a meta‐analysis of randomized controlled trials and observational studies. Methods: A systematic literature search of several databases was conducted through September 19, 2020 to identify relevant studies. The outcomes of interest included live birth and adverse pregnancy outcomes (APOs). The overall risk estimates were pooled using random‐effects meta‐analysis. Results: Ten randomized controlled trials and 12 cohort studies were included. In the meta‐analyses of randomized controlled trials, the effectiveness of LMWH‐treatment was found to be statistically significant in decreasing the risk of APOs (risk ratio [RR] = 0.76; 95% confidence interval [CI]: 0.61–0.95; p = 0.020), rather than in increasing the rate of live birth (RR = 1.12; 95% CI: 0.93–1.34; p = 0.230). In the meta‐analyses of cohort studies, results showed that the use of LMWH was associated with a significantly higher proportion of live birth (RR = 1.86; 95% CI: 1.09–3.19; p = 0.020) as well as a significantly lower ratio of APOs (RR = 0.46; 95% CI: 0.31–0.69; p < 0.001) in women with inherited thrombophilia. Conclusions: The use of LMWH may have a potentially beneficial effect on reducing the risk of APOs and even increasing the live birth rate in women with inherited thrombophilia. Further well‐designed clinical trials with large samples are needed to address the role of LMWH in improving pregnancy outcomes among pregnant women with inherited thrombophilia. [ABSTRACT FROM AUTHOR]
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- 2022
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24. Neonatal Cerebral Sinovenous Thrombosis and the Main Perinatal Risk Factors—A Retrospective Unicentric Study.
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Filip, Catalina, Zonda, Gabriela Ildiko, Vasilache, Ingrid-Andrada, Scripcariu, Ioana Sadiye, Vicoveanu, Petronela, Dima, Vlad, Socolov, Demetra, and Paduraru, Luminita
- Subjects
CEREBRAL embolism & thrombosis ,RETROSPECTIVE studies ,RISK assessment ,VENOUS thrombosis ,BLOOD diseases ,RARE diseases ,LONGITUDINAL method ,DISEASE risk factors ,CHILDREN - Abstract
(1) Background: Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disorder, associated with long-term neurological sequelae. The aim of this study was to retrospectively evaluate the most commonly encountered perinatal risk factors for this disease in a cohort of newborns from Romania. (2) Methods: The medical records of neonatal CSVT patients treated between January 2017 and December 2021 were descriptively assessed. (3) Results: The study included nine neonates, five males (55.56%) and four females (44.44%), who were born at term. The most commonly presented clinical manifestations were feeding difficulties, lethargy, respiratory distress, loss of consciousness, and seizures. Maternal-inherited thrombophilia, male sex, complicated delivery, perinatal asphyxia, and mechanical ventilation were frequently identified as potential risk factors for developing CSVT. The lesions were more frequently localized in the superior sagittal sinus (n = 7; 77.78%), followed by the transverse (n = 4; 44.44%), sigmoid (n = 2; 22.22%), and cavernous (n = 1; 11.11%) sinuses. Low-molecular-weight heparin was administered to all patients, and two of them died from thrombotic complications. (4) Conclusions: Recognition of potential risk factors and a prompt diagnosis of neonatal CSVT could lead to better patient management and to a reduction of severe complications. [ABSTRACT FROM AUTHOR]
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- 2022
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25. Congenital/inherited thrombophilia in adults -- characteristics, laboratory testing and management. Recommendations of the Hemostasis Group of the Polish Society of Hematology and Transfusiology 2022.
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Undas, Anetta, Windyga, Jerzy, Podolak-Dawidziak, Maria, Klukowska, Anna, Zdziarska, Joanna, Chojnowski, Krzysztof, Łętowska, Magdalena, Łaguna, Paweł, Treliński, Jacek, Musiał, Jacek, Urasiński, Tomasz, Mital, Andrzej, and Młynarski, Wojciech
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- 2022
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26. Adolescent Pregnancy Complicated by Thrombosis
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Dersch, Candice M., Kouides, Peter A., and Srivaths, Lakshmi V., editor
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- 2020
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27. Combination Treatment of Balloon Pulmonary Angioplasty and Direct Oral Anticoagulant in a Patient with Chronic Thromboembolic Pulmonary Hypertension Complicated by Protein S Deficiency
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Toshihide Izumida, Teruhiko Imamura, Ryuichi Ushijima, and Koichiro Kinugawa
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cardiology ,pulmonary artery hypertension ,hemodynamics ,inherited thrombophilia ,Medicine (General) ,R5-920 - Abstract
Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) is a phenotype of pulmonary hypertension due to chronic and multiple organized thrombus. The therapeutic strategy for patients with CTEPH and comorbid protein S deficiency remains unknown due to its rarity. Case: We encountered a 49-year-old male patient with CTEPH and concomitant mild protein S deficiency (type III). We could successfully perform balloon pulmonary angioplasty without any major complications, including thromboembolism and bleeding, followed by standard-dose oral anticoagulation therapy instead of warfarin. Conclusion: A currently established standard therapeutic strategy for CTEPH, including pulmonary angioplasty, may be safe and effective even in patients with concomitant inherent coagulation abnormalities.
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- 2023
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28. Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19
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Irina Fevraleva, Daria Mamchich, Dmitriy Vinogradov, Yulia Chabaeva, Sergey Kulikov, Tatiana Makarik, Vahe Margaryan, Georgiy Manasyan, Veronika Novikova, Svetlana Rachina, Georgiy Melkonyan, and Karine Lytkina
- Subjects
inherited thrombophilia ,thrombosis ,real-time AS-PCR ,hereditary mutation ,Genetics ,QH426-470 - Abstract
Thrombosis is an extremely dangerous complication in elderly patients with COVID-19. Since the first months of the pandemic, anticoagulants have been mandatory in treatment protocols for patients with COVID-19, unless there are serious contraindications. We set out to discover if genetic thrombophilia factors continue to play a triggering role in the occurrence of thrombosis in patients with COVID-19 with prophylactic or therapeutic anticoagulants. We considered the following genetic markers as risk factors for thrombophilia: G1691A in the FV gene, C677T and A1298C in the MTHFR gene, G20210A and C494T in the FII gene, and (−675) 4G/5G in the PAI-I gene. In a cohort of 176 patients, we did not obtain a reliable result indicating a higher risk of thrombotic complications when taking therapeutic doses of anticoagulants in carriers of genetic markers for thrombophilia except the C494T mutation in the FII gene. However, there was still a pronounced tendency to a higher incidence of thrombosis in patients with markers of hereditary thrombophilia, such as FV G1691A and FII G20210A mutations. The presence of the C494T (Thr165Met) allele in the FII gene in this group of patients showed a statistically significant effect of the mutation on the risk of thrombotic complications despite anticoagulant therapy.
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- 2023
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29. Inherited thrombophilia in pregnancy. Study by questionnaire method in a group of pregnant women
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Mohammed Bashir MADALAH, Eduard CIRCO, Maria ŞUŢA, Cătălin GRIGORE, and Bogdan CIORNEI
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inherited thrombophilia ,pregnancy complications ,thromboembolic events ,recurrent pregnancy loss ,thromboprophylaxis ,Medicine ,Medicine (General) ,R5-920 - Abstract
Thrombophilia, blood clotting abnormalities that increase the risk of thrombosis, can be inherited (congenital thrombophilia) or acquired during life. We conducted a study using the questionnaire method, which included 38 questions. The questionnaire was posted on social media groups dedicated to patients with thrombophilia in Romania. 99 patients responded to our request to complete the questionnaire, 91 performed tests for the diagnosis of thrombophilia and 85 were diagnosed with thrombophilia (81 diagnosed with inherited thrombophilia, 1 with acquired thrombophilia and 3 with mixed thrombophilia). It was shown that, in our group, the most common inherited thrombophilias are the factor V mutation (FVL) and the MTHFR gene mutation, in over 95% of cases. The results of the study may be a starting point for larger batch studies on the presence of genetic mutations in patients with inherited thrombophilia, to more effectively prevent pregnancy complications.
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- 2020
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30. Screening for inherited thrombophilias and prophylaxis of venous thromboembolism in pregnancy and puerperium
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Ana SCUTELNICU, Corina GICA, Radu BOTEZATU, Nicolae GICA, Anca Marina CIOBANU, Brindusa CIMPOCA, Gheorghe PELTECU, and Anca Maria PANAITESCU
- Subjects
pregnancy ,puerperium ,inherited thrombophilia ,venous thromboembolism ,prophylaxis ,Medicine ,Medicine (General) ,R5-920 - Abstract
Thrombophilias are a group of coagulation disorders associated with a predisposition to thrombotic events. They could be inherited (genetic) or acquired. The most encountered inherited thrombophilias are factor V Leiden (FVL), prothrombin gene mutation (G20210A) (PGM), protein S deficiency, protein C deficiency and antithrombin (AT) deficiency. Based upon the risk of thrombosis, there are two types of inherited thrombophilias, high risk and low risk. The high risk inherited thrombophilia includes antithrombin III deficiency, factor V Leiden homozygotes, prothrombin gene mutation and compound heterozygotes FVL and PGM. The low risk thrombophilia includes factor V Leiden heterozygote, PGM heterozygote, protein C deficiency and protein S deficiency. The incidence of all thromboembolic events is estimated to approximately 1-2 per 1000 pregnancies and about an equal number are identified antepartum and in the puerperium. Screening for thrombophilia in pregnancy is not universally recommended because of the low incidence of the condition and because it is not cost-effective. Some adverse pregnancy outcomes could be associated with some types of thrombophilia, but this association is weak and there is no reason to initiate extensive investigations or therapeutic measures. Both obstetricians and hematologists and women need to be correctly informed and avoid emotional decisions and unnecessary invasive treatments.
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- 2020
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31. Inherited and acquired thrombophilia as a modifier of clinical course of chronic immune thrombocytopenia
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M Kumar, A Panigrahi, P Mondal, R De, S Datta, T Dolai, P Chakraborty, M Bhattacharyya, and M Ghosh
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acquired thrombopihilia ,chronic immune thrombocytopenia ,inherited thrombophilia ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Patients with immune thrombocytopenia (ITP) exhibit striking heterogeneity in bleeding manifestations even at similar platelet counts. We report the prevalence and impact of thrombophilia marker expression in chronic ITP patients. For the present study, patients with chronic ITP were clinically assessed at regular intervals using the bleeding assessment tool for ITP, and bleeding was compared among patients with and without thrombophilia marker expression (thrombophilia markers analyzed included clot-based assays for protein C, protein S, Pro C Global®, FVIII levels, and lupus anticoagulant assay). Thirty-six patients (25.5%) tested positive for at least one thrombophilia marker, and the remaining 105 patients (74.5%) were negative for all markers. Patients expressing at least one thrombophilia marker had significantly less bleeding than those without. We conclude that a part of heterogeneity in the clinical presentation of chronic ITP can be explained by the presence of thrombophilia.
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- 2020
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32. Combined presence of coagulation factor XIII V34L and plasminogen activator inhibitor 1 4G/5G gene polymorphisms significantly contribute to recurrent pregnancy loss in Serbian population
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Joksic Ivana, Mikovic Zeljko, Filimonovic Dejan, Munjas Jelena, Karadzov Orlic Natasa, Egic Amira, and Joksic Gordana
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factor xiii ,gene polymorphism ,inherited thrombophilia ,plasminogen activator inhibitor-1 ,recurrent pregnancy loss ,Biochemistry ,QD415-436 - Abstract
Background: Recurrent pregnancy loss (RPL) is a heterogeneous condition affecting up to 5% of women of reproductive age. Inherited thrombophilia have been postulated as one of the causes of RPL. Here we examined the prevalence of nine thrombophilic gene polymorphisms among women with history of recurrent miscarriages and fertile controls. Methods: The study included 70 women with history of at least three early pregnancy losses and 31 fertile controls with no miscarriages. We investigated mutations in genes responsible for clotting and fibrinolysis, including factor V (FV) Leiden, FV H1299R, factor II (FII) G20210A, methylene tetrahydrofolate reductase (MTHFR) C677T and A1298C, factor XIII (FXIII) V34L, plasminogen activator inhibitor-1 (PAI-1) 4G/5G and endothelial protein C receptor (EPCR) H1 and H3 haplotypes using reverse polymerase chain reaction ViennaLab cardiovascular disease StrippAssays. Results: Our results showed no significant increase in prevalence of tested polymorphisms in women with RPL. However, relative risk for PRL among women heterozygous for FXIII V34L was 2.81 times increased (OR 2.81, 95% CI 1.15-6.87, P=0.023). Haplotype analysis showed that combined presence of high-risk genotypes for FXIII and PAI-1 significantly increases risk for RPL (OR 13.98, CI 95% 1.11-17.46, P=0.044). Conclusions: This is the first study in Serbian population that investigated prevalence of FVR2, A1298C, FXIII V34L and EPCR gene variants. Compound heterozygosity for FXIII V34L and PAI-1 4G is significant risk factor for recurrent miscarriage. Our results should be viewed in context of small case-control study, so further large prospective studies are need for confirmation of our findings.
- Published
- 2020
33. Genetic Variants in the Protein S (PROS1) Gene and Protein S Deficiency in a Danish Population
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Ole Halfdan Larsen, Alisa D. Kjaergaard, Anne-Mette Hvas, and Peter H. Nissen
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protein s deficiency ,pros1 ,venous thromboembolism ,inherited thrombophilia ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Protein S (PS) deficiency is a risk factor for venous thromboembolism (VTE) and can be caused by variants of the gene encoding PS (PROS1). This study aimed to evaluate the clinical value of molecular analysis of the PROS1 gene in PS-deficient participants. We performed Sanger sequencing of the coding region of the PROS1 gene and multiplex ligation-dependent probe amplification to exclude large structural rearrangements. Free PS was measured by a particle-enhanced immunoassay, while PS activity was assessed by a clotting method. A total of 87 PS-deficient participants and family members were included. In 22 index participants, we identified 13 PROS1 coding variants. Five variants were novel. In 21 index participants, no coding sequence variants or structural rearrangements were identified. The free PS level was lower in index participants carrying a PROS1 variant compared with index participants with no variant (0.51 [0.32–0.61] vs. 0.62 [0.57–0.73] × 103 IU/L; p
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- 2021
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34. Pharmacokinetics of Low Molecular Weight and Unfractionated Heparin in Pregnancy
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University of British Columbia
- Published
- 2016
35. Perinatal complications related to inherited thrombophilia: review of evidence in different regions of the world.
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Dugalic, Stefan, Petronijevic, Milos, Stefanovic, Aleksandar, Stefanovic, Katarina, Perovic, Milan, Pantic, Igor, Vrzic Petronijevic, Svetlana, Stanisavljevic, Dejana, and Zaric, Milica
- Subjects
- *
HYPERCOAGULATION disorders , *PREGNANCY complications , *PREGNANCY outcomes , *ANTIPHOSPHOLIPID syndrome , *THROMBOEMBOLISM - Abstract
The term thrombophilia describes disorders associated with an increased predisposition of developing venous thromboembolism (VTE). It may be acquired, like in those with antiphospholipid syndrome or inherited. The aim of this review was to compare the complications and outcomes of pregnancies in women with inherited thrombophilia between different populations, including the population of our country where the results of the research are scarce. The review of literature included all papers indexed on PubMed and Medline in the last 20 years, with different study design, including other reviews of literature, systematic reviews with meta-analysis and several case-control studies and population-based cohort studies. We aimed to cover as many geographic regions as possible with the aim to show the differences in the different parts of the world and including our country. Our analysis showed that types of thrombophilia differ in different geographic regions. Also, the differences exist between one particular type of thrombophilia in different regions. Nevertheless, no matter what the differences are between prevalence, all authors investigated the association between inherited thrombophilia and poor pregnancy outcome and managed to find some kind of association. The case with our own country is similar. Although we lack in studies with this issue and the design of published studies is not powerful enough, we may conclude that in our samples, women with thrombophilia are in potential risk of several poor pregnancy outcomes. Further and better analyses are necessary to prove this hypothesis not only on the level of study sample but also on general population. Given the fact that thrombophilia certainly affects the pregnancy and its outcome, the urge to perform screening tests in every woman suspected to have this kind of disorder and with respect to differences that exist in different world regions is inevitable. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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36. Molecular Analysis of Prothrombotic Gene Variants in Patients with Acute Ischemic Stroke and with Transient Ischemic Attack.
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Cernera, Gustavo, Comegna, Marika, Gelzo, Monica, Savoia, Marcella, Bruzzese, Dario, Mormile, Mauro, Zarrilli, Federica, Amato, Felice, Micco, Pierpaolo Di, and Castaldo, Giuseppe
- Subjects
STROKE ,TRANSIENT ischemic attack ,METHYLENETETRAHYDROFOLATE reductase ,HYPERCOAGULATION disorders ,GENOTYPE-environment interaction - Abstract
Background and objectives: ischemic stroke (IS) is among the most frequent causes of death worldwide; thus, it is of paramount relevance to know predisposing factors that may help to identify and treat the high-risk subjects. Materials and Methods:we tested nine variants in genes involved in thrombotic pathway in 282 patients that experienced IS and 87 that had transient ischemic attacks (TIA) in comparison to 430 subjects from the general population (GP) of the same geographic area (southern Italy). We included cases of young and child IS to evaluate the eventual differences in the role of the analyzed variants. Results: we did not observe significant differences between TIA and the GP for any of the variants, while the allele frequencies of methylene-tetrahydrofolate reductase (MTHFR) C677T, beta-fibrinogen -455G>A and factor (FXIII) V34L were significantly higher in patients with IS than in the subjects from the GP. No significant interaction was observed with sex. Conclusions: the present data argue that some gene variants have a role in IS and this appears to be an interesting possibility to be pursued in large population studies to help design specific strategies for IS prevention. [ABSTRACT FROM AUTHOR]
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- 2021
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37. Hematologic Disease in Implantation Failure
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Neal, Shelby A., Franasiak, Jason M., Scott, Richard T., Franasiak, Jason M., editor, and Scott Jr., Richard T., editor
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- 2018
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38. Neonatal Cerebral Sinovenous Thrombosis and the Main Perinatal Risk Factors—A Retrospective Unicentric Study
- Author
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Catalina Filip, Gabriela Ildiko Zonda, Ingrid-Andrada Vasilache, Ioana Sadiye Scripcariu, Petronela Vicoveanu, Vlad Dima, Demetra Socolov, and Luminita Paduraru
- Subjects
cerebral sinovenous thrombosis ,neonatal ,risk factors ,inherited thrombophilia ,Pediatrics ,RJ1-570 - Abstract
(1) Background: Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disorder, associated with long-term neurological sequelae. The aim of this study was to retrospectively evaluate the most commonly encountered perinatal risk factors for this disease in a cohort of newborns from Romania. (2) Methods: The medical records of neonatal CSVT patients treated between January 2017 and December 2021 were descriptively assessed. (3) Results: The study included nine neonates, five males (55.56%) and four females (44.44%), who were born at term. The most commonly presented clinical manifestations were feeding difficulties, lethargy, respiratory distress, loss of consciousness, and seizures. Maternal-inherited thrombophilia, male sex, complicated delivery, perinatal asphyxia, and mechanical ventilation were frequently identified as potential risk factors for developing CSVT. The lesions were more frequently localized in the superior sagittal sinus (n = 7; 77.78%), followed by the transverse (n = 4; 44.44%), sigmoid (n = 2; 22.22%), and cavernous (n = 1; 11.11%) sinuses. Low-molecular-weight heparin was administered to all patients, and two of them died from thrombotic complications. (4) Conclusions: Recognition of potential risk factors and a prompt diagnosis of neonatal CSVT could lead to better patient management and to a reduction of severe complications.
- Published
- 2022
- Full Text
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39. The risk of arterial thrombosis in carriers of natural coagulation inhibitors: a prospective family cohort study.
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Tormene, Daniela, Noventa, Franco, Campello, Elena, Gavasso, Sabrina, Marobin, Michelangelo, Turatti, Giacomo, Prandoni, Paolo, and Simioni, Paolo
- Abstract
Background: Whether the carriership of inherited antithrombin (AT), protein C (PC), and protein S (PS) deficiency increases the risk of arterial thromboembolic events (ATE) is controversial. This information has the potential to inform the management of family members of probands with inherited deficiency of natural anticoagulants. Patients/methods: We conducted a large prospective family cohort study in 640 subjects (of whom 341 carriers and 299 non-carriers) belonging to 86 families with inherited deficiency of AT, PC, or PS. Results: A total of 4240 and 3810 patient-years were available for carriers and non-carriers, respectively. Risk factors for atherosclerosis were similarly distributed in the two groups. Of the 26 ATE that were recorded, 19 occurred in carriers (5.6%), as compared to 7 in non-carriers (2.3%) [p = 0.07]. After adjusting for confounders, the hazard ratio (HR) for ATE was 4.9 (95% CI 1.5–16.3) in carriers as compared to non-carriers. Conclusions: Among family members of probands with an inherited deficiency of natural anticoagulants, carriers exhibit a risk of ATE that is almost five times higher than in non-carriers. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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40. The role of polymorphism of hemostatic system genes in the risk assessment of the surgical treatment of chronic thromboembolic pulmonary hypertension
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I. Yu. Loginova, O. V. Kamenskaya, A. M. Chernyavskij, A. N. Shilova, and V. V. Lomivorotov
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chronic thromboembolic pulmonary hypertension ,hemostasis ,inherited thrombophilia ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Aim. To assess polymorphisms of the hemostatic system genes in patients with chronic thromboembolic pulmonary hypertension (CTEPH) and their influence on the results of thrombendarterectomy from the branches of the pulmonary artery.Material and methods. The study included 70 people with verified CTEPH who underwent thrombendarterectomy from the branches of the pulmonary artery. We studied the prevalence of polymorphisms of the hemostatic system genes (F2: 20210 G>A; F5: 1691 G>A (Arg506Gln); F7: 10976 G>A (Arg353Gln); F13: G>T (Val34Leu); FGB: 455 G>A; ITGA2: 807 C>T (Phe224Phe); ITGB3: 1565 T>C (Leu33Pro); SERPINE1 (PAI-1): 675 5G>4G) and their relationship with the immediate and long-term results of surgical treatment.Results. One or several polymorphisms of the hemostasis system genes were registrated in 98% of cases in the group with CTEPH. The most common polymorphism of the SERPINE1 (PAI-1) gene was 675 5G>4G (in 80% of cases). Mutation of the F2 gene: 20210 G>A was noted in 14% of patients, F5: 1691 G>A (Arg506Gln) - 13%, F7: 10976 G>A (Arg353Gln) - 11%, F13: G> T (Val34Leu) - 34 %, FGB: 455 G> A - 35%, ITGA2: 807 C>T (Phe224Phe) - 48%, ITGB3: 1565 T>C (Leu33Pro) - 24%. The only factor influencing the results of surgical treatment was the polymorphism of the prothrombin gene (20210 G>A), which showed a high predictive value in assessing the risk of respiratory failure in the early postoperative period of thrombendarterectomy from the branches of the pulmonary artery (OR 3,5 (1,7-18,8) p=0,041). Other genetic disorders of the hemostatic system did not show significant associations with the outcome of surgical treatment.Conclusion. We showed the relationship between the presence of prothrombin gene polymorphism (20210 G>A) and the increased risk of respiratory failure in the early postoperative period of thromboendarterectomy from the branches of the pulmonary artery. Other genetic disorders of the hemostatic system and their carriage did not show significant associations with the outcome of surgical treatment.
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- 2018
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41. Venous Thromboembolic Disease in Children and Adolescents
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Radulescu, Vlad C., D’Orazio, John A., and Islam, Md. Shahidul, editor
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- 2017
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42. Factor V Leiden and Prothrombin Mutation: Common Thrombophilias
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Brown, James P. R., Douglas, Joanne, and Mankowitz, Suzanne K. W., editor
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- 2018
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43. Inherited Thrombophilia in the Era of Direct Oral Anticoagulants
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Lina Khider, Nicolas Gendron, and Laetitia Mauge
- Subjects
inherited thrombophilia ,direct oral anticoagulant ,antithrombin ,protein C ,protein S ,DOAC neutralization ,Biology (General) ,QH301-705.5 ,Chemistry ,QD1-999 - Abstract
Severe inherited thrombophilia includes rare deficiencies of natural anticoagulants (antithrombin and proteins C and S) and homozygous or combined factor V Leiden and FII G20210A variants. They are associated with a high thrombosis risk and can impact the duration of anticoagulation therapy for patients with a venous thromboembolism (VTE) event. Therefore, it is important to diagnose thrombophilia and to use adapted anticoagulant therapy. The widespread use of direct anticoagulants (DOACs) for VTE has raised new issues concerning inherited thrombophilia. Concerning inherited thrombophilia diagnosis, DOACs are directed toward either FIIa or FXa and can therefore interfere with coagulation assays. This paper reports DOAC interference in several thrombophilia tests, including the assessment of antithrombin, protein S, and protein C activities. Antithrombin activity and clot-based assays used for proteins C and S can be overestimated, with a risk of missing a deficiency. The use of a device to remove DOACs should be considered to minimize the risk of false-negative results. The place of DOACs in the treatment of VTE in thrombophilia patients is also discussed. Available data are encouraging, but given the variability in thrombosis risk within natural anticoagulant deficiencies, evidence in patients with well-characterized thrombophilia would be useful.
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- 2022
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44. The Contribution of Inherited Thrombophilia to Venous Thromboembolism in Cancer Patients.
- Author
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Costa J and Araújo A
- Subjects
- Child, Humans, Female, Anticoagulants, Venous Thromboembolism genetics, Neoplasms complications, Neoplasms genetics, Thrombophilia genetics
- Abstract
Although the relationship between venous thromboembolism (VTE) and cancer has been a subject of study, knowledge of the contribution of thrombophilia to thrombosis in patients with cancer is still very limited. The aim of this article is to collect present knowledge on the contribution of inherited thrombophilia to VTE in cancer patients. We performed a search in Google Scholar and PubMed and selected 21 from 76 returned articles. Then we made a narrative review of the selected articles. We describe 11 studies on the contribution of inherited thrombophilia to VTE in cancer patients in general and 10 on that contribution in specific types of cancer: 1 in colorectal cancer, 4 in breast cancer, 1 in gynecologic cancer and 4 in hematopoietic malignancies. All studies investigate the relation of factor V Leiden (FVL) to VTE, 13 that of the prothrombin G20210A mutation (PTG20210A) and 7 studies also investigate other inherited thrombophilias, such methylenetetrahydrofolate reductase gene mutations, although only 2 investigate the contribution of deficiencies of the natural anticoagulants. Studies are very heterogeneous, in design and sample size and conclusions differ considerably. There is no consensus on the contribution of inherited thrombophilia to VTE in cancer patients except for acute lymphoblastic leukemia in children. Probably, that contribution is not the same for all types of cancer and more studies are needed to bring more knowledge on this subject., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
- Published
- 2024
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45. May the morphological findings in the first‐trimester abortion materials be indicative of inherited thrombophilia?
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Kaymaz, Esin, Gun, Banu D., Genc, Gunes C., Kokturk, Furuzan, and Ozmen, Kazım G.
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- *
BLOOD diseases , *CHORIONIC villi , *HEMORRHAGE , *MISCARRIAGE , *GENETIC mutation , *PLACENTA , *PLACENTA diseases , *FIRST trimester of pregnancy , *PROTHROMBIN , *STATISTICAL significance , *RECURRENT miscarriage , *ACTIVATED protein C resistance - Abstract
Purpose: İnherited thrombophilia is associated with severe pregnancy complications including recurrent spontaneous abortion. In the light of this strong association, the impact of thrombophilic mutations on the placenta and their morphological reflections has aroused attention of both clinicians and pathologists. In the present study, we aimed to show the association between placental abnormalities with thrombophilia by examining the morphological findings in a wide range of first‐trimester chorionic villi. Methods: We performed a histological examination on the abortion specimens obtained from 129 patients with recurrent pregnancy losses that were evaluated with respect to inherited thrombophilia based on the presence of Factor V Leiden (G1691A), Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations detected by genetic analysis. Abortion materials either with and without thrombophilia were evaluated in terms of the morphological parameters such as hydropic change, vascularity, fibrosis, fibrinoid degeneration, Hofbauer macrophage, syncytiotrophoblast knotting, villitis, calcification, villous contour and villous size, hemorrhage, thrombus, proliferation of trophoblasts, villous stromal or villous vascular karyorrhexis. Results: No statistically significant difference was found between the patient groups with and without thrombophilia in terms of morphological findings except vascularity of chorionic villi. The avascular chorionic villi (<3 vessels per villus) were found in 62.9% and 16.9% obtained from the women with and without thrombophilic mutation, respectively. This difference was statistically significant (P < 0.001). Conclusion: As a conclusion, it could be stated that the analysis of morphological findings in the abortion specimen is not a time‐wasting process. Particularly, data related with vascularity of chorionic villi would be precious and beneficial. We suggest that highlighting the presence of avascular villi in the pathology report as a parameter would be guiding for clinicians regarding the impact of the thrombophilic gene mutations. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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46. Trombofilia moștenită în sarcină. Studiu prin metoda chestionarului la un lot de gravide.
- Author
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MADALAH, Mohammed Bashir, CIRCO, Eduard, GRIGORE, Cătălin, and CIORNEI, Bogdan
- Subjects
- *
GENETIC mutation , *PREGNANCY complications , *BLOOD coagulation , *HYPERCOAGULATION disorders - Abstract
Thrombophilia, blood clotting abnormalities that increase the risk of thrombosis, can be inherited (congenital thrombophilia) or acquired during life. We conducted a study using the questionnaire method, which included 38 questions. The questionnaire was posted on social media groups dedicated to patients with thrombophilia in Romania. 99 patients responded to our request to complete the questionnaire, 91 performed tests for the diagnosis of thrombophilia and 85 were diagnosed with thrombophilia (81 diagnosed with inherited thrombophilia, 1 with acquired thrombophilia and 3 with mixed thrombophilia). It was shown that, in our group, the most common inherited thrombophilias are the factor V mutation (FVL) and the MTHFR gene mutation, in over 95% of cases. The results of the study may be a starting point for larger batch studies on the presence of genetic mutations in patients with inherited thrombophilia, to more effectively prevent pregnancy complications. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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47. Screening for inherited thrombophilias and prophylaxis of venous thromboembolism in pregnancy and puerperium.
- Author
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SCUTELNICU, Ana, GICA, Corina, BOTEZATU, Radu, GICA, Nicolae, CIOBANU, Anca Marina, CIMPOCA, Brindusa, PELTECU, Gheorghe, and PANAITESCU, Anca Maria
- Subjects
- *
HYPERCOAGULATION disorders , *PROTEIN S deficiency , *THROMBOEMBOLISM , *ACTIVATED protein C resistance , *PROTEIN C , *PUERPERIUM - Abstract
Thrombophilias are a group of coagulation disorders associated with a predisposition to thrombotic events. They could be inherited (genetic) or acquired. The most encountered inherited thrombophilias are factor V Leiden (FVL), prothrombin gene mutation (G20210A) (PGM), protein S deficiency, protein C deficiency and antithrombin (AT) deficiency. Based upon the risk of thrombosis, there are two types of inherited thrombophilias, high risk and low risk. The high risk inherited thrombophilia includes antithrombin III deficiency, factor V Leiden homozygotes, prothrombin gene mutation and compound heterozygotes FVL and PGM. The low risk thrombophilia includes factor V Leiden heterozygote, PGM heterozygote, protein C deficiency and protein S deficiency. The incidence of all thromboembolic events is estimated to approximately 1-2 per 1000 pregnancies and about an equal number are identified antepartum and in the puerperium. Screening for thrombophilia in pregnancy is not universally recommended because of the low incidence of the condition and because it is not cost-effective. Some adverse pregnancy outcomes could be associated with some types of thrombophilia, but this association is weak and there is no reason to initiate extensive investigations or therapeutic measures. Both obstetricians and hematologists and women need to be correctly informed and avoid emotional decisions and unnecessary invasive treatments. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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48. The Association of Hereditary Prothrombotic Risk Factors with ST-Elevation Myocardial Infarction.
- Author
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Damar, İbrahim Halil and Eroz, Recep
- Subjects
- *
ACUTE coronary syndrome , *PERCUTANEOUS coronary intervention , *DIAGNOSIS , *MEDICAL care , *CORONARY disease - Abstract
Objective: The ST- elevation myocardial infarction (STEMI), a serious health care problem, is commonly a thrombotic complication of coronary artery disease. We compare the STEMI patients and control group in terms of the possible causes of inherited thrombophilia including FactorV Cambridge G1091C, FactorV Leiden G1691A, MTHFRC677T, MTHFR A1298C, FactorII G20210A, Factor XIII (V34L), PAI-1, FGB, ITGB3, APOB, FVHR2, ACE gene variants. Methods: Fifty-three patients with STEMI and 47 individuals without diagnosis of acute coronary syndrome were included in the study. Percutaneous coronary intervention was performed for patients with STEMI. Echocardiography was performed and inherited thrombophilia genes were evaluated in all subjects. Results: The MTHFR A1298C, Factor XIII (V34L), ITGB, ACE and homozygous or compound heterozygous gene varations of inherited thrombophilia are significantly related with STEMI (p<0.05). Also significantly higher MTHFR A1298C, FactorV Leiden G1691A, PAI and ACE gene variations in MI patients who were smokers; Factor XIII (V34L), PAI and ACE gene variations in MI patients with HT; PAI and ACE gene variation in MI patients with FH and PAI gene variations in MI patients with HL were detected when compared with the control groups with all of the same risk factors (p<0.05). Conclusion: Hereditary thrombophilia factors may show promise in the prevention and management of STEMI when supported studies with larger case series. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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49. Inherited thrombophilia and venous thromboembolism: testing rules in clinical practice
- Author
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I. V. Zotova and D. A. Zateyshchikov
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venous thromboembolism ,inherited thrombophilia ,anticoagulants ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Testing for inherited thrombophilia in patients with venous thromboembolism is one of the most common genetic testing options prescribed by clinicians. Despite the large evidence base for the relationship of hereditary hemostasis disorders with the risk of venous thrombosis, most patients should not be tested. Performing tests in the acute phase of thrombosis or during anticoagulant therapy leads to erroneous results. The choice of anticoagulant therapy regimen and its duration are not specified by the presence of hereditary thrombophilia. The test results can be useful for increasing medication adherence of patient, determining the cause of thrombosis, especially at a young age or in atypical localization.
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- 2020
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50. INFLUENCE OF SELENIUM SUPPLEMENTATION ON CARBOHYDRATE METABOLISM AND OXIDATIVE STRESS IN PREGNANT WOMEN WITH GESTATIONAL DIABETES MELLITUS.
- Author
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Saifi, Hadjer, Mabrouk, Yassine, Saifi, Rayane, Benabdelkader, Messaouda, and Saidi, Mouldi
- Subjects
- *
GESTATIONAL diabetes , *PREGNANT women , *ERYTHROCYTES , *CARBOHYDRATE metabolism , *OXIDATIVE stress , *SECOND trimester of pregnancy , *SELENIUM - Abstract
Background: In the presence of conflicting advice about the relationship between selenium-type II diabetes-oxidative stress trio, this study aimed to assess the consequences of selenium supplementation on fasting plasma glucose (FPG) level, antioxidant activities of selenodependent and non-selenodependent enzymes, and other markers of oxidative stress studied for the first time during gestational diabetes mellitus (GDM). Methods: This research was carried out among 180 pregnant Algerian women, 60 of whom were in good health, 60 women with GDM did not take supplements, and 60 women with GDM took selenium orally (50 pg/d) for 12 weeks starting from their second trimester of pregnancy. Blood samples were taken in order to assay FPG level and oxidative stress markers. Results: Selenium supplementation during GDM has demonstrated its hypoglycemic power in the significant decline of FPG level, and its antioxidant properties in the significant reinforcement of antioxidant activities of ery-throcyte selenodependent enzymes (glutathione peroxidase and glutathione reductase), the significant increase in erythrocyte catalase and superoxide dismutase activities simultaneously with the highest decrease in erythrocyte and plasma malondialdehyde levels. This decrease was only significant for plasma carbonyl proteins, which was not the case for erythrocyte carbonyl proteins. Conclusions: The recourse to selenium supplementation by seleno-deficient pregnant women with GDM is beneficial for maternal health. This micronutrient exploits its antioxidant and insulin-mimetic properties in the maintenance of blood glucose homeostasis and the fight against oxidative stress, and consequently, its supplementation delays the occurrence of GDM complications. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
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