keyword
https://read.qxmd.com/read/38457541/cerebral-venous-thrombosis-presented-with-symmetrical-crescent-shaped-intracranial-hemorrhage-in-alcoholic-liver-disease-case-reports
#21
JOURNAL ARTICLE
Lingjia Xu, Guoping Fu
RATIONALE: Cerebral venous thrombosis (CVT) is a relatively uncommon but fatal disease. It can be caused by a variety of hereditary or acquired thrombotic diseases. Initial presentation with intracranial hemorrhage (ICH) in CVT is rare but can further complicate the therapeutic measures and prognosis. Cases of CVT presented with ICH in patients with alcoholic liver disease (ALD) have not been described in the literature, and it might be related with hemostatic abnormalities in ALD patients...
March 8, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38453604/the-role-of-hereditary-thrombophilia-testing-in-management-of-first-time-pulmonary-embolism
#22
JOURNAL ARTICLE
Sophie Sohval, Leonard Naymagon
AIM: Hereditary thrombophilia (HT) testing is frequently conducted during the evaluation of patients with pulmonary embolism (PE). However, the utility of routine HT testing in this setting is unclear. We sought to assess the association of HT with risk of recurrent venous thromboembolism (VTE) following first-time PE. METHODS: We conducted a multi-hospital retrospective study. 290 patients with a first-time PE, who had been tested for HT, completed at least 3 months of therapeutic anticoagulation (AC), subsequently discontinued AC, and were followed for at least 36 months thereafter, were included...
March 6, 2024: Heart, Lung & Circulation
https://read.qxmd.com/read/38449956/cardiogenic-shock-in-a-patient-with-4g-4g-pai-polymorphism-and-mthfr-a1298c-mutation
#23
Ijeoma Orabueze, Inemesit Akpan, Valerie Cluzet, Mark Harrison
Myocardial infarction (MI) remains a common cause of morbidity and mortality. Although many well-known risk factors exist, the association between inherited thrombophilia disorders and acute MI is not well described. Here, we present a case of a 75-year-old male with known 4G/4G PAI-1 polymorphism, methylenetetrahydrofolate reductase (MTHFR) mutation, and peripheral artery disease (PAD) post stent placement who presented with cardiogenic shock in the setting of acute MI with no prior significant cardiac history...
February 2024: Curēus
https://read.qxmd.com/read/38442893/the-contribution-of-inherited-thrombophilia-to-venous-thromboembolism-in-cancer-patients
#24
REVIEW
José Costa, António Araújo
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...
2024: Clinical and Applied Thrombosis/hemostasis
https://read.qxmd.com/read/38414080/successful-microvascular-surgery-in-patients-with-thrombophilia-in-head-and-neck-surgery-a-case-series
#25
JOURNAL ARTICLE
Julian Faber, Frank Schuster, Stefan Hartmann, Roman C Brands, Andreas Fuchs, Anton Straub, Markus Fischer, Urs Müller-Richter, Christian Linz
BACKGROUND: In this case series, a perioperative anticoagulation protocol for microvascular head and neck surgery in patients with thrombophilia is presented. Microvascular free-flap surgery is a standard procedure in head and neck surgery with high success rates. Nevertheless, flap loss-which is most often caused by thrombosis-can occur and has far-reaching consequences, such as functional impairment, prolonged hospitalization, and increased costs. The risk of flap loss owing to thrombosis is significantly increased in patients with thrombophilia...
February 28, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38414076/lessons-from-an-elderly-patient-with-pulmonary-embolism-caused-by-protein-s-deficiency-a-case-report
#26
JOURNAL ARTICLE
Liu Qiang, Li Hong, Shen Min, Wang Hongping, Chen Xian, Li Tianlang
BACKGROUND: Lower limb deep vein thrombosis (DVT) concurrent with pulmonary embolism (PE) is perilous, particularly in the elderly, exhibiting heterogeneity with thrombophilia mutations. Tailored treatment is essential, yet sudden deaths complicate causative factor elucidation. This report emphasizes genetic testing necessity in PE patients with thrombophilia indicators, facilitating cause identification, personalized treatment guidance, and family education. CASE PRESENTATION: This study details a 75-year-old Chinese woman with DVT and PE, where genetic testing identified thrombophilia, guiding personalized treatment decisions...
February 28, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38407082/inherited-thrombophilia-and-risk-of-thrombosis-in-children-with-cancer-a-single-center-experience
#27
JOURNAL ARTICLE
Ana Đordević, Blaženka Grahovac, Silvije Šegulja, Lidija Bilić Zulle, Jelena Roganović
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...
December 2023: Acta Medica Academica
https://read.qxmd.com/read/38406529/post-lumbar-puncture-cerebral-vein-thrombosis
#28
Vincenzo Marasco, Francesca Gianniello, Aldo Paolucci, Ida Martinelli, Marco Capecchi
Lumbar puncture (LP) is rarely complicated by cerebral vein thrombosis (CVT), especially if other risk factors coexist. We describe the case of a 28-year-old woman who developed CVT after corticosteroid treatment and LP performed for suspected multiple sclerosis. The day after LP, she developed intense headache and on Day 8 generalized tonic-clonic seizures. A brain computed tomography scan showed thrombosis of the superior sagittal sinus and cortical veins. Thrombophilia screening showed heterozygous G20210A prothrombin mutation...
February 2024: EJHaem
https://read.qxmd.com/read/38395889/juvenile-eosinophilic-fasciitis-a-single-center-case-series
#29
JOURNAL ARTICLE
Leigh A Stubbs, Oluwaseun Ogunbona, Emily Beil, Vibha Szafron, Adekunle Adesina, Sara Anvari, Jamie Lai, Andrea Ramirez, Matthew G Ditzler, Marietta DeGuzman
BACKGROUND: Eosinophilic fasciitis (EF) is a rare disease characterized by skin induration and musculoskeletal abnormalities. Diagnostic criteria for EF are based on adult populations. There is a need to expand the literature on EF in children due to limited reported cases and potential differences compared to adults. METHODS: We conducted a retrospective review of medical records for six pediatric patients diagnosed with EF at our institution between November 2011 and April 2023...
February 24, 2024: Pediatric Rheumatology Online Journal
https://read.qxmd.com/read/38394717/umbilical-artery-thrombosis-a-case-report-of-prenatal-diagnosis-and-systematic-review-of-the-literature
#30
REVIEW
Eleonora Romani, Laura Marinelli, Ilaria Ponziani, Giulia Masini, Francesca Castiglione, Eleonora Nardi, Lucia Pasquini
Umbilical Artery Thrombosis (UAT) is an extremely rare complication of pregnancy strongly associated with severe fetal distress and death. The pathogenesis is still unclear but it is often associated with anatomical cord abnormalities that leads to blood stasis and thrombosis formation. Other possible risk factors are maternal thrombophilia, autoimmune disease, gestational diabetes, hypertension disorders of pregnancy and Rh-alloimmunization. The most common clinical symptom is the reduction of fetal movements...
February 10, 2024: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://read.qxmd.com/read/38385544/risk-of-chronic-thromboembolic-pulmonary-hypertension-after-splenectomy
#31
JOURNAL ARTICLE
Drahomira Bollova, Adriana Reptova, Tatiana Valkovicova, Katarina Gazdikova, Iveta Simkova
OBJECTIVES: The purpose of the clinical study was to evaluate the risk of chronic thromboembolic pulmonary hypertension (CTEPH) after splenectomy and to analyze some biochemical and coagulation parameters. BACKGROUND: CTEPH caused by incomplete resolution of thromboemboli and irreversible remodeling of the pulmonary arteries is a progressive, and without treatment a fatal disease. Although the definite etiopathophysiology is not quite perfectly researched, numerous clinical conditions associated with CTEPH as history of pulmonary embolism, infected ventriculoatrial shunts or permanent intravascular devices, high-dose thyroid hormone replacement, malignancy and chronic inflammatory diseases, including osteomyelitis, inflammatory bowel diseases, are well accepted...
2024: Bratislavské Lekárske Listy
https://read.qxmd.com/read/38373970/express-inpatient-thrombophilia-workup-does-hematology-consult-prevent-unnecessary-testing
#32
JOURNAL ARTICLE
Zackary Anderson, Mohammed Ahsan, Carlos Aguirre, Michele Ramirez, Keegan Plowman
Hypercoagulable disorders are best described as a group of acquired and hereditary conditions that increase the risk for the development of thrombi within veins or arteries. In the setting of an unprovoked VTE, common practice in the inpatient setting has been further investigation via a thrombophilia workup to establish an underlying cause. Current Hematology-Oncology guidelines argue against inpatient workup as the results rarely influence inpatient management. Following ASH guidelines [Middledorp], the current study found that only 15% (11/72) of patients met appropriate criteria for thrombophilia testing...
February 19, 2024: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://read.qxmd.com/read/38358900/multiple-venous-thrombosis-caused-by-f9-gene-duplication-and-treated-with-catheter-directed-thrombolysis-angiojet-assisted-pharmaco-mechanical-thromboectomy-and-manual-aspiration-thromboectomy
#33
JOURNAL ARTICLE
Qing Gen Xiong, Ye Li, Feng Chen, Meng Meng Bi, Wei Zhou
Inferior vena cava thrombosis (IVCT) is rare. Thrombophilia is one of the important risk factors. It is also uncommon for gene mutations in F9 gene to cause thrombosis but not hemorrhage. A 35-year-old male patient was admitted to our department with left lower limb swelling without an obvious cause for 1 day. Through contrast-enhanced computed tomography and color Doppler ultrasound, he was found to have lower extremity deep vein thrombosis, IVCT and pulmonary embolism. Through whole-exome sequencing analysis, he was found to carry a 925...
February 15, 2024: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://read.qxmd.com/read/38355469/umbilical-artery-thrombosis-risk-factors-and-perinatal-outcomes
#34
JOURNAL ARTICLE
Shuangjia Pan, Anjian Xu, Xinyue Lu, Baoyi Chen, Xianjun Chen, Ying Hua
PURPOSE: The purpose of this study was to investigate the risk factors for umbilical artery thrombosis (UAT) and the relationship between umbilical artery thrombosis and perinatal outcomes. METHODS: This was a retrospective study that enrolled singleton pregnant women who were diagnosed with umbilical artery thrombosis. The control group recruited pregnant woman with three umbilical vessels or those with isolated single umbilical artery (iSUA) who were matched with umbilical artery thrombosis group...
February 14, 2024: BMC Pregnancy and Childbirth
https://read.qxmd.com/read/38352633/challenges-in-treating-extensive-deep-vein-thrombosis-with-severe-thrombocytopenia-in-patients-with-antiphospholipid-syndrome-a-follow-up-of-2-years
#35
Lee Kai Wei, Ashish Anil Sule
Thrombocytopenia is one of the most common manifestations of antiphospholipid syndrome (APS). There is little evidence or definitive guidelines regarding the treatment of APS with thrombocytopenia. We describe a patient with APS and moderate-to-severe thrombocytopenia and the challenges of balancing anticoagulation with thrombocytopenia. A 19-year-old male patient presented with right lower limb swelling to the emergency department with a history of gradually worsening right leg swelling for 1 week and was diagnosed with right leg proximal deep vein thrombosis...
February 2024: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://read.qxmd.com/read/38351006/association-of-inherited-thrombophilia-mutations-and-their-combinations-among-palestinian-women-with-unexplained-recurrent-miscarriage
#36
JOURNAL ARTICLE
Ayman A Najjar, Imam Hassouna, Mahmoud A Srour, Hany M Ibrahim, Randa Y Assi, Heba M Abd El Latif
BACKGROUND: Inherited thrombophilia (IT) has a complex pathophysiology and is associated with recurrent miscarriage (RM) by causing placental insufficiency and inhibiting fetal development. However, thrombophilia screening in unexplained RM cases is still questionable. This study aimed to investigate the association between the common eight IT mutations and their combinations among Palestinian women with unexplained RM. METHODS: This is an unmatched case-control study with 200 women (100 unexplained RM cases, 100 controls)...
February 13, 2024: Thrombosis Journal
https://read.qxmd.com/read/38331787/thrombosis-related-characteristics-of-pregnant-women-with-antithrombin-deficiency-protein-c-deficiency-and-protein-s-deficiency-in-japan
#37
JOURNAL ARTICLE
Takao Kobayashi, Kazuko Sugiura, Toshiyuki Ojima, Mariko Serizawa, Kyuya Hirai, Eriko Morishita
BACKGROUND:  We previously conducted a primary survey of pregnant women with hereditary thrombophilia based on national surveillance in Japan, but did not examine their thrombosis-related characteristics. Antithrombin (AT) deficiency, protein C (PC) deficiency and protein S (PS) deficiency are the major types of hereditary thrombophilia in Japan. METHODS: We examined their detailed information related to thrombosis, and evaluated peripartum outcomes in comparison with control data obtained from the Japan Society of Obstetrics and Gynecology...
February 8, 2024: Thrombosis Journal
https://read.qxmd.com/read/38327150/investigating-the-impact-on-long-term-outcomes-and-the-necessity-of-hereditary-thrombophilia-screening-in-presumed-or-perinatal-arterial-ischemic-stroke
#38
JOURNAL ARTICLE
Ömer Bektaş, Özben Akıncı Göktaş, Begüm Atasay, Serap Teber
This study aimed to investigate the influence of prothrombotic risk factors on long-term outcomes of patients with perinatal arterial ischemic stroke. The study was conducted through an analysis of monitoring results that were regularly maintained for approximately 20 years at a tertiary stroke-monitoring center. The study assessed prothrombotic risk factors, radiological area of involvement, clinical presentation, treatments, clinical outcomes, and long-term outcomes of the 48 patients included in the study, with a mean monitoring time of 77...
2024: Clinical and Applied Thrombosis/hemostasis
https://read.qxmd.com/read/38314001/a-rare-case-of-antiphospholipid-syndrome-with-concomitant-antithrombin-iii-deficiency-a-case-report
#39
Husam Barham, Munther W Alshyoukhi, Hani Siaj, Raed Masalma, Wesam Tamimi, Ali H Khalilia, Omar Almur, Mohammad Jaber
Antithrombin (AT) deficiency and antiphospholipid syndrome (APS) are distinct but potentially overlapping disorders with significant implications for thrombosis. We present a case of a 28-year-old male with hereditary AT deficiency who subsequently developed primary APS. Despite the challenges of overlapping symptoms and anticoagulation therapy, a careful diagnostic approach revealed the coexistence of these rare conditions. The patient was successfully managed with long-term anticoagulation, hydroxychloroquine, and other supportive measures...
January 2024: Curēus
https://read.qxmd.com/read/38312827/prevention-of-thromboembolic-events-after-radical-prostatectomy-in-patients-with-hereditary-thrombophilia-due-to-a-factor-v-leiden-mutation-by-multidisciplinary-coagulation-management
#40
JOURNAL ARTICLE
Randi M Pose, Sophie Knipper, Jonas Ekrutt, Mara Kölker, Pierre Tennstedt, Hans Heinzer, Derya Tilki, Florian Langer, Markus Graefen
OBJECTIVE: To examine the perioperative impact of factor V Leiden mutation on thromboembolic events' risk in radical prostatectomy (RP) patients. With an incidence of about 5%, factor V Leiden mutation is the most common hereditary hypercoagulability among Caucasians and rarer in Asia. The increased risk of thromboembolic events is three- to seven-fold in heterozygous and to 80-fold in homozygous patients. METHODS: Within our prospectively collected database, we analysed 33 006 prostate cancer patients treated with RP between December 2001 and December 2020...
January 2024: Asian Journal of Urology
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