Radiological pattern in cryptogenic stroke/TIA patients with and without thrombophilia.

BACKGROUND: The radiological pattern of stroke patients with thrombophilia is unknown. Our aim is to compare the MRI radiological pattern of silent and acute lesions in cryptogenic stroke/TIA patients under 60 years of age with and without thrombophilia. METHODS: Cryptogenic stroke/TIA patients under 60 years of age hospitalized at our Stroke Unit during four years were consecutively included. Thrombophilia screening was performed at 3 months after stroke and verified 12 weeks later. The follow-up was performed at 3, 12 and 24 months. Radiological pattern was assessed with the Fazekas and van Swieten scales. RESULTS: During four years, 185 cryptogenic stroke/TIA patients under 60 years of age were included; mean age was 51 years, 61% were female, with a follow-up of 22±3.2 months. Thrombophilia was detected in 20% of patients. We detected a significant increase of previous vascular events (29.7% vs 7.5%, p=.01) as well as lower hypercholesterolemia (27% vs 62.5% p=.003) in the thrombophilia group, without significant differences in other vascular risk factors or vascular recurrence during follow-up. Regarding the acute lesion, we did not detect significant differences between groups. The radiological pattern of silent lesions showed that the thrombophilia group presented more large confluent lesions (39.1% vs 19.2%, p=.02) with greater sparing of the anterior territory (0% vs 30%, p=.01). CONCLUSIONS: Our data suggest a characteristic radiological pattern of silent lesions in cryptogenic stroke/TIA patients with thrombophilia, with more confluent lesions and less involvement of the anterior territory.

Impact of thrombophilia on venous thromboembolism management.

Hypercoagulable states, also called thrombophilia, can either be congenital or acquired. Congenital thrombophilia, associated mainly with venous thrombosis, is either secondary to coagulation-inhibitor deficiencies, i.e., antithrombin, protein C and Protein S, or gain of function mutations, i.e., factor V Leiden and prothrombin G20210A mutations. Despite the relative frequency of these two mutations, they have not been associated with venous thrombosis recurrence. Most prevalent thrombophilia have a limited impact and usually does not change indications for duration of antithrombotic treatment or prophylaxis compared to decisions based on clinical factors. However, rare inherited thrombophilia such as antithrombin deficiency could justify a long-term anticoagulation. The main acquired thrombophilia, the Antiphospholipid syndrome (APS), is associated with both arterial and venous thrombosis. Its impact on patient management is significant: choice of the anticoagulant (DOAC vs. warfarin), duration of anticoagulation, screening of any organ involvement and systemic autoimmune disease, introduction of immunosuppressive therapy.

Duration of anticoagulation of venous thromboembolism.

Venous thromboembolism (VTE) is a common, serious condition that requires anticoagulation for at least three months to prevent recurrence and long-term complications. After this initial period, the decision to continue or stop anticoagulation depends on the balance between the risk of recurrent VTE and the risk of bleeding. Established guidelines suggest short-term anticoagulation for VTE caused by transient factors and indefinite anticoagulation for recurrent or cancer-associated VTE. However, for a first unprovoked VTE, decision-making remains challenging. Current predictive scores for recurrence and bleeding are not sufficiently reliable, and the safety and efficacy of reduced-dose anticoagulation remain unclear. In the future, precision and patient-centred medicine may improve treatment decisions in this area.

Predictive Value of Serum Immune-Inflammatory Markers for Adverse Pregnancy Outcomes in Pregnant Women with Thrombophilia: A Retrospective Cohort Study.

Background: Thrombophilia combined with pregnancy poses significant risks for adverse pregnancy outcomes. Unfortunately, there are no indicators at high risk for predicting adverse pregnancy outcomes. This study investigates the predictive efficiency of serum immune-inflammatory markers on adverse pregnancy outcomes. Methods: This retrospective cohort study includes 223 pregnant women diagnosed with thrombophilia who delivered at the Fujian Provincial Hospital South Branch from January 2022 to April 2024. Clinical information and pregnancy outcomes were collected. The systemic immune-inflammation index (SII), systemic inflammation response index (SIRI), and lactate dehydrogenase (LDH) were calculated using blood samples. The relationship and predictive accuracy between immune-inflammatory markers and adverse pregnancy outcomes were analyzed. Results: In this study, 50 (22.4%) patients had adverse pregnancy outcomes. Significant differences were observed in neutrophils counts, monocytes counts, LDH, SII, and SIRI levels between the adverse pregnancy outcome groups (APOs) and the control groups (P<0.05). The area under the receiver operating characteristic (ROC) curve analysis revealed that SII (AUC=0.762), SIRI (AUC=0.764), and LDH (AUC=0.732) had high predictive values for adverse pregnancy outcomes. Notably, the combined model had the highest AUC of 0.805. Multivariate logistic regression identified SII had the highest odd ratio (OR) (OR=8.512; 95% CI(3.068-23.614)), followed by LDH (OR=4.905; 95% CI (1.167-11.101)), SIRI (OR=3.549; 95% CI(0.847-8.669)), and neutrophils count (OR=1.726; 95% CI (0.563-2.938)) as independent risk factors for adverse outcomes. Conclusion: Elevated levels of immune-inflammatory markers such as SII, SIRI, and LDH level are strong predictors of adverse pregnancy outcomes in thrombophilia-complicated pregnancies. These markers are significantly associated with maternal-neonatal outcomes. Our findings underscore the importance of monitoring immune-inflammatory markers in pregnant women with thrombophilia to improve maternal and neonatal outcomes.

Cerebral Thrombophlebitis Complicating Coeliac Disease.

Thromboembolic complications associated with coeliac disease are rare. They are dominated by abdominal venous thrombosis. However, cerebral thrombosis is exceptional. The research of the thrombotic risk factors is essential in coeliac disease. We report a clinical case illustrating cerebral thrombophlebitis due to antithrombin III deficiency with the presence of anticardiolipin antibodies complicating coeliac disease in a child.

The use of DOACs in the secondary prevention of venous thromboembolism in patients with severe thrombophilia: communication from the ISTH SSC Subcommittee on Physiological Anticoagulants and Thrombophilia.

Direct Oral Anticoagulants (DOACs) are the first line anticoagulants for the secondary prevention of venous thromboembolism (VTE). However, patients with severe inherited thrombophilias represent a group where the efficiency and safety of DOACs is poorly studied. In this communication, we focus on the utility of DOACs in the secondary prevention of VTE in patients with severe thrombophilia. Current evidence is based only on cohort or single center studies, and poor data is available on compliance of the patients in the studies. Analysis of the studies suggested that full-dose DOACs and vitamin K antagonists (VKAs) have a similar efficacy and bleeding risk in the secondary prevention of VTE in patients with thrombophilia; with a low hazard ratio for recurrent VTE calculated from cohort studies for DOAC vs warfarin, ranging from 0.3 to 0.75. We wish to highlight that treatment failure is greater in those with severe forms of Protein S deficiency (below 20%), and possibly in AT deficiency Type II HBS homozygous Budapest 3. In summary, the current approach to using DOACs in patients with severe thrombophilia is dependent on clinical judgment and experience. Limited evidence suggests that for those with severe thrombophilias, full dose DOACs have similar utility as VKAs. We recommend caution in using low - dose DOACs due to lack of evidence. Ideally large randomized multicenter studies are required to develop a reliable treatment algorithm.

Caracterización de pacientes con trombosis portal sobre hígado no cirrótico en un hospital universitario de Medellín, Colombia / Characterization of patients with portal vein thrombosis on non-cirrhotic liver at a university hospital in Medellín, Colombia

Introducción. La trombosis de la vena porta es la oclusión parcial o completa de la luz de la vena porta o sus afluentes por la formación de trombos. Se asocia a desenlaces adversos y a un peor pronóstico. La frecuencia de aparición viene en aumento, a menudo de manera incidental, debido al uso cada vez mayor de imágenes diagnósticas. Metodología. Estudio observacional de una serie de casos de pacientes mayores de 18 años a quienes se les documentó trombosis venosa portal en hígado no cirrótico en el periodo comprendido entre enero de 2012 y diciembre de 2019 en un hospital de cuarto nivel de la ciudad de Medellín, Colombia. Resultados. Se documentaron 94 trombosis portales, la media de edad fue 44 ± 15 años, el 56 % eran mujeres. El promedio de aparición de síntomas fue de 14 días. La presentación de la trombosis fue aguda en un 41 %, crónica en 44 % y de instauración aguda sobre una trombosis crónica en un 15 %. La presentación clínica fue asintomática en el 33 %, el dolor abdominal fue la presentación más común con el 62 %. La trombofilia adquirida de mayor ocurrencia fueron las neoplasias mieloproliferativas crónicas en un 18 %, seguida del síndrome antifosfolípido en un 6 %. El método diagnóstico más usado fue la TAC trifásica en un 58 % seguido de la ultrasonografía en un 35 %. El 66 % de los pacientes fueron anticoagulados, siendo la warfarina el principal anticoagulante usado en un 56 %. El 16 % presento algún tipo de sangrado, aunque ninguno fue sangrado mayor. Conclusiones. La trombosis portal sigue siendo en muchos casos un hallazgo incidental. Se encontró un número inusual de neoplasias mieloproliferativas crónicas. La anticoagulación es segura y eficaz, aunque los anticoagulantes orales directos aún tienen un uso restringido.

Introduction. Portal vein thrombosis is the partial or complete occlusion of the lumen of the portal vein or its tributaries by thrombus formation. It is associated with adverse outcomes and a poorer prognosis. Its frequency is increasing, often incidentally, due to the growing use of diagnostic imaging. Methodology. This is an observational study of a case series of patients over 18 years old who were documented with portal vein thrombosis in a non-cirrhotic liver between January 2012 and December 2019 in a fourth-level hospital in the city of Medellín, Colombia. Results. Ninety-four cases of portal vein thrombosis were documented. The mean age was 44 ± 15 years, and 56 % were women. The average onset of symptoms was 14 days. Thrombosis presentation was acute in 41 %, chronic in 44 %, and acute on chronic in 15 %. Clinically, 33 % were asymptomatic, and abdominal pain was the most common presentation at 62 %. The most common acquired thrombophilia was chronic myeloproliferative neoplasms at 18 %, followed by antiphospholipid syndrome at 6 %. The most used diagnostic method was triphasic CT at 58 %, followed by ultrasonography at 35 %. Sixty-six percent of the patients received anticoagulation, with warfarin being the main anticoagulant used at 56 %. Sixteen percent experienced some type of bleeding, although none were major. Conclusions. Portal vein thrombosis remains, in many cases, an incidental finding. An unusual number of chronic myeloproliferative neoplasms were found. Anticoagulation is safe and effective, although the use of direct oral anticoagulants remains restricted.

Pediatric antiphospholipid syndrome: is it the same as an adult?

IMPORTANCE: Antiphospholipid syndrome in neonates and children is a rare, but in some cases life-threatening condition with arterial and/or venous thrombosis and/or non-thrombotic neurological, skin, ophthalmological and other manifestations. OBSERVATIONS: This review highlights the available information about the features of pediatric APS, including the rare catastrophic form, the differences between pediatric and adult APS, and the role of genetic thrombophilia in APS manifestation. CONCLUSIONS AND RELEVANCE: The clinical manifestations and treatment options for APS in children may differ from those in adults, and prescribing therapy can be challenging due to the unique clinical and morphological characteristics of the pediatric patient. Pediatric APS may be a predictor of the development of certain autoimmune diseases and classic manifestations of APS in adulthood, therefore, a revision of the existing criteria for the diagnosis and treatment of APS in children is necessary.

The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension.

INTRODUCTION: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637). METHODS: The SNPs of the following genes were investigated: F5 (F V Leiden, rs6025), F2 prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), F11 (rs2289252) and ABO (non-O, rs8176719) in both groups. RESULTS: The study found that the rs1799963 variant was more common in patients with chronic thromboembolic pulmonary hypertension (CTEPH) compared to the control group (p < .0001). The GA heterozygous variant showed a significant increase with an odds ratio (OR) of 4.480 (95% CI: 2.344-8.562) or a finding by maximum likelihood analysis (MLA) with p < .0001. Additionally, there was a notable increase in the rs8176719 variant with p < .0001 in CTEPH patients. Both the homozygous G/G variant and the heterozygous -/G variant also showed an increase, with OR of 4.2317 (95% CI: 2.45571-7.2919) and 2.4324 (95% CI: 1.46435-4.0403) respectively, or MLA (p < .0001 and p .0006). The study also revealed a higher prevalence of the heterozygous C/T variant of rs2289252 in CTEPH patients, with an OR of 1.5543 (95% CI: 1.02503-2.3568) or MLA (p .0379). CONCLUSION: The study suggests that the observed gene polymorphisms F2 (rs1799963), ABO (rs8176719), and F11 (rs2289252) may play a role as independent heritable risk factors in the development of CTEPH.

The Burden of Deep Vein Thrombosis and Risk Factors in Pregnancy and Postpartum-Mirroring Our Region's Particularities.

(1) Background: The three factors within the Virchow triad play the leading role in the development of deep vein thrombosis (DVT) during pregnancy. (2) Methods: This research approaches the various risk factors associated with DVT and its most representative complications, pulmonary thromboembolism and cerebral venous thrombosis, in pregnant and postpartum women across a 15-year period (2007-2021). (3) Results: A total of 201 out of 287 patients with DVT had associated risk factors, while 86 did not present with any. Out of the 201 patients with risk factors, 47 developed pulmonary thromboembolism, while 12 experienced cerebral thrombosis. The statistical analysis of risk factors involved in DVT revealed high significance for obesity (OR 3.676; CI 2.484-5.439), gestational diabetes (OR 3.394; CI 2.101-5.483), hypertension (OR 2.325; CI 1.591-3.397), preeclampsia (OR 4.753; CI 2.342-9.645), thrombophilia (OR 12.138; CI 8.973-16.417), and varicose veins (OR 9.678; CI 7.321-12.793); for pulmonary thromboembolism, there was high significance for obesity (OR 7.867; CI 4.297-14.401), hypertension (OR 2.605; CI 1.246-5.446), preeclampsia (OR 7.483; CI 2.346-23.872), thrombophilia (OR 11.035; CI 5.910-20.602), and varicose veins (OR 6.837; CI 3.665-12.757); and for cerebral thromboembolism (CTE), the risk factors identified were obesity (OR 6.755; CI 1.954-23.347), hypertension (OR 1.167; CI 0.155-8.770), preeclampsia (OR 9.655; CI 1.283-72.672), and thrombophilia (OR 33.275; CI 12.884-85.939). (4) Conclusions: Obesity was the only significant factor found to influence DVT, pulmonary embolism and CTE risks, and hereditary thrombophilia was the main factor influencing the risk for pulmonary thromboembolism and CTE. Systemic lupus erythematosus and gestational diabetes revealed conflicting results that require further investigation.

Genetic factors, risk prediction and AI application of thrombotic diseases.

In thrombotic diseases, coagulation, anticoagulation, and fibrinolysis are three key physiological processes that interact to maintain blood in an appropriate state within blood vessels. When these processes become imbalanced, such as excessive coagulation or reduced anticoagulant function, it can lead to the formation of blood clots. Genetic factors play a significant role in the onset of thrombotic diseases and exhibit regional and ethnic variations. The decision of whether to initiate prophylactic anticoagulant therapy is a matter that clinicians must carefully consider, leading to the development of various thrombotic risk assessment scales in clinical practice. Given the considerable heterogeneity in clinical diagnosis and treatment, researchers are exploring the application of artificial intelligence in medicine, including disease prediction, diagnosis, treatment, prevention, and patient management. This paper reviews the research progress on various genetic factors involved in thrombotic diseases, analyzes the advantages and disadvantages of commonly used thrombotic risk assessment scales and the characteristics of ideal scoring scales, and explores the application of artificial intelligence in the medical field, along with its future prospects.

Impending Eclampsia With Protein C Deficiency in Pregnancy: A Case Report From Recovery to Mortality.

This case report details a 30-year-old pregnant woman with inherited protein C deficiency who developed severe preeclampsia (PE), intrauterine growth restriction, and pancytopenia. Despite treatment, including anticoagulants, her condition worsened, resulting in postpartum mortality. Protein C deficiency, integral to the coagulation cascade, can exacerbate pregnancy's hypercoagulable state, contributing to adverse outcomes like PE. Mutations in the protein C gene can cause type I or type II deficiency, affecting protein C antigen and activity levels. The patient's history of recurrent pregnancy losses and conception via in vitro fertilization despite advisories highlights the complexities of managing pregnancy complications with protein C deficiency. Although some studies do not establish a direct link between protein C levels and PE, further research should explore thrombophilia's role in PE development and recurrence. Prospective studies investigating antithrombotic strategies in thrombophilic pregnancies could offer insights into reducing PE recurrence risks. This case underscores the need for multidisciplinary management and ongoing research to enhance clinical strategies and outcomes in high-risk pregnancies involving protein C deficiency.

The Challenge of Managing a Primary Aortic Mural Thrombus: Outcomes and Technical Considerations.

Background: Embolization to multiple arterial beds associated with primary aortic mural thrombus (PAMT) could result in high morbidity and mortality. There are no recommendations to dictate the best management. This study aims to describe our experience in managing this rare disease. Methods: A retrospective review of all patients affected by PAMT treated at our institution between January 2015 and December 2021 was performed. Recorded data included demographics, prothrombotic risk factors, imaging findings, clinical presentation, and treatment. Primary outcomes comprised thrombus recurrence, major amputation, and death. Results: Thirteen patients with PAMT have been included. The median age was 52 years (36-68 years), and the male/female ratio was 1:1.6. The diagnosis of PAMT was made by computed tomography angiography (CTA) in all cases. Prothrombotic conditions were identified in 92% of cases, and most patients (92%) had thoracic PAMT. The most common presentation was acute limb ischemia after thrombus embolization (85%), requiring surgical revascularization. Anticoagulation was promptly started in all patients. Two patients developed heparin-induced thrombocytopenia. Recurrence of embolization/thrombosis was observed in 54% of patients; two underwent endovascular thrombus exclusion with a stent graft. We identified one PAMT-related death and one major amputation with a median follow-up time of 39 months (12-64 months). Conclusion: Anticoagulation alone as initial therapy could completely resolve PAMT but is associated with high embolization recurrence. Thoracic endovascular aortic repair is feasible and could prevent additional embolization. However, the criteria for its use as a first-line therapy still need to be defined. Our study highlights the importance of closely monitoring these patients.

Epidemiology, natural history, diagnosis, and management of ovarian vein thrombosis: a scoping review.

Ovarian vein thrombosis (OVT) is a rare but potentially serious condition. We conducted a scoping review of published data to provide a better understanding of OVT management. MEDLINE and Cochrane databases were searched. Eligibility criterion was original articles including women with OVT until May 2024. Quantitative data were pooled via CMA software. Quality of the primary studies was assessed via the Newcastle‒Ottawa Scale. Out of 1,007 identified records, 19 primary studies including 1,128 patients were selected. Mean age at OVT diagnosis was 37 years old. Frequency of OVT depended on the clinical situation: cancer (37%) and postpartum (0.06%), including cesarean (0.19%), or persistent fever despite antibiotics (23%). Magnetic resonance imaging was associated with the best diagnostic performance, followed by computed tomography. Pulmonary embolism and extension to the iliac vein, inferior vena cava or left renal vein occurred in 6.5%, 5.9%, 10.3% and 9.6% of patients, respectively. Among anticoagulants, low-molecular-height heparin with/without oral anticoagulant was preferred for three to six months. Among the women tested, thrombophilia was present in 18% of the patients. Recanalization, recurrent thrombosis or major bleeding occurred in 70%, 8% and 2% of patients, respectively. Majority of studies had poor evidence. This scoping review provides a comprehensive evaluation of available data. Frequency of OVT depends on the clinical setting. Physicians should be aware of OVT in postpartum women with persistent fever despite the use of antibiotics. Ovarian vein thrombosis belongs to the spectrum of venous thromboembolism and should be considered both in puerperal settings and in cancer patients.

From Ovarian Hyperstimulation to the Discovery of a Liver Nodule.

Ovarian hyperstimulation syndrome (OHSS) is a complication of ovulation induction. Deep vein thrombosis (DVT) can occur as a consequence of this syndrome, but it is an infrequent event. The authors describe the case of a woman who became pregnant after ovulation induction and developed severe OHSS and, subsequently, DVT of the right brachiocephalic trunk, internal and external jugular veins, and right subclavian vein. Thrombophilia studies were positive, revealing the presence of four mutations. The pregnancy was bichorionic and biamniotic twins and, during the course of the pregnancy, she developed severe cholestasis. In the follow-up of this situation, she underwent abdominal ultrasound which revealed the presence of liver nodules. Three years after delivery, the patient remains anticoagulated and under surveillance of liver nodules by annual MRI.

[Diagnosis and treatment of venous thrombosis]. / Management der Venenthrombose.

INTRODUCTION: The subject of this guideline from the Institute of Family Medicine at the University of Zurich (IHAMZ) is the management of venous thrombosis. The review summarizes the current evidence and recommendations from international guidelines (1-6). The IHAMZ-guidelines focus on primary care, they also provide guidance on the coordination of general and specialist medical care as well as on the transition between outpatient and hospital care taking into account the special features of the Swiss healthcare system. The guideline is devided in two parts. Part 1 discusses the diagnosis and treatment of deep vein thrombosis (DVT). A validated algorithm is recommended for the diagnostic process, which begins with the assessment of the clinical probability. With the inclusion of the D-dimer test, the need for subsequent imaging diagnostics can be reduced. The differences between the evaluation of an initial and recurrent DVT are shown and the indications and scope of evidence-based environmental diagnostics (thrombophilia and tumor search) are presented. All patients with DVT should receive anticoagulation (AC) for 3-6 months, as there is a high risk of recurrence with AC 3 months. The duration of the subsequent secondary prophylaxis depends on the presumed risk of recurrence on the one hand and the risk of bleeding on the other. Part 2 is dedicated to special thrombosis situations such as shoulder-arm vein thrombosis (SAVT), cancer-associated thrombosis (CAT) and superficial vein thrombosis (SVT). The article on hormone- and pregnancy-associated DVT, developed together with the Department of Gynecology at the University Hospital of Zurich, discusses the importance of hormonal contraception and menopausal hormone replacement therapy (HRT) as a thrombogenic risk factor as well as special features in the diagnosis and treatment of thrombosis in pregnancy.

Venous thromboembolism risk in adults with hereditary thrombophilia: a systematic review and meta-analysis.

This systematic review and meta-analysis assesses venous thromboembolism (VTE) risk in adults with hereditary thrombophilia, including Factor V Leiden (FVL) mutation, prothrombin G20210A (FII) mutation, compound heterozygosity, protein C (PC), protein S (PS), and antithrombin (AT) deficiency. Eligibility criteria included studies suitable for quantitative synthesis with extractable information on VTE risk in adults (> 15 years). There were no restrictions on VTE type, location, or occurrence. Two authors reviewed all studies and extracted data from 107 publications, encompassing 107,130 individuals (21,560 experiencing VTE). We used a random effects model and calculated odds ratios (ORs) with 95% confidence intervals (CIs). The highest risk was associated with homozygous FVL (OR 5.58, 95% CI 4.61-6.74), homozygous FII (OR 5.16, 95% CI 3.12-8.52), and compound heterozygosity (OR 4.64, 95% CI 2.25-9.58). In contrast, VTE risk was lowest for FVL heterozygosity (OR 2.97, 95% CI 2.41-3.67) and FII heterozygosity (OR 2.21, 95% CI 1.70-2.87), whereas PC (OR 3.23, 95% CI 2.05-5.08), PS (OR 3.01, 95% CI 2.26-4.02), and AT deficiency (OR 4.01, 95% CI 2.50-6.44) demonstrated an intermediate VTE risk. These results highlight an increased risk of venous thromboembolism in adults with hereditary thrombophilia. However, the risk for patients with PC, PS, and AT deficiency appears to be lower than previously stated, likely due to varying thrombogeneity of the underlying genetic mutations. Further research addressing this aspect of VTE risk in hereditary thrombophilia is imperative to improve patient management. TRIAL REGISTRATION: PROSPERO registration number CRD42022376757.

Are all primary omental infarcts truly idiopathic? Five case reports.

BACKGROUND: Idiopathic omental infarction (IOI) is challenging to diagnose due to its low incidence and vague symptoms. Its differential diagnosis also poses difficulties because it can mimic many intra-abdominal organ pathologies. Although hypercoagulability and thrombosis are among the causes of omental infarction, venous thromboembolism scanning is rarely performed as an etiological investigation. CASE SUMMARY: The medical records of the 5 cases, who had the diagnosis of IOI by computed tomography, were examined. The majority of the patients were male (n = 4, 80%) and the mean age was 31 years (range: 21-38). The patients had no previous abdominal surgery or a history of any chronic disease. The main complaint of all patients was persistent abdominal pain. Omental infarction was detected in all patients with contrast-enhanced computed tomography. Conservative treatment was initially preferred in all patients, but it failed in 1 patient (20%). After discharge, all patients were referred to the hematology department for thrombophilia screening. Only 1 patient applied for thrombophilia screening and was homozygous for methylenetetrahydrofolate reductase (A1298C mutation) and heterozygous for a factor V Leiden mutation. CONCLUSION: IOI should be considered in the differential diagnosis in patients presenting with progressive and/or persistent right side abdominal pain. Investigating risk factors such as hypercoagulability in patients with IOI is also important in preventing future conditions related to venous thromboembolism.

Effect of frozen storage conditions on antithrombin protein C and protein S activity assay stability.

BACKGROUND: Inherited antithrombin, protein C, and protein S deficiency increase the risk of venous thromboembolism. The presence of defects can be identified by clinical laboratory assays. In most Chinese clinical laboratories, the screening tests for antithrombin, protein C, and protein S deficiency are their activity assays. Ensuring appropriate pre-analytical storage conditions for activity tests is essential. This study aimed to assess the effects of storage conditions on antithrombin, protein C, and protein S activity in frozen plasma. METHODS: We collected the remaining plasma of 29 patients. The baseline of antithrombin, protein C, and protein S activity values were tested within 4 h. Then, each sample was sub-packaged into 4 EP tubes, and was stored at -20 °C for 3 days, -20 °C for 7 days, -80 °C for 3 days, and - 80 °C for 7 days, respectively. After thawing, samples were tested by two systems. RESULTS: The percentage deviation of antithrombin and protein C activity assay was<10% compared with the initial values. Protein S activity showed a significant reduction in frozen plasma, with a deviation > 10%. Some samples, initially within the normal range, were classified as abnormal after freezing storage. CONCLUSIONS: Our study indicated that antithrombin and protein C remain stable when stored at -20 °C or -80 °C in a week. We argued that Protein S activity is not stable in frozen plasma. The use of frozen-thawed plasma for PS activity assay may result in overdiagnosis of protein S deficiency.

Genetic landscape of thrombophilia in recurrent miscarriages.

The etiology of recurrent miscarriage (RM) is extremely heterogeneous, encompassing genetic, immunological, anatomical, endocrine, thrombophilic, infectious, and uterine abnormalities. Thrombophilia is a major contributor to pregnancy complications, potentially harming the fetus and jeopardizing the continuation of pregnancy. Therefore, successful pregnancy outcomes depend on maintaining a delicate balance between coagulation and fibrinolytic factors, crucial for ensuring the adjustment of the basal plate to facilitate adequate placental perfusion. Despite numerous studies shedding light on the role of thrombophilic factors and genetic variations in RM, the exact pathogenesis remains unclear. It is imperative to systematically rule out thrombophilia and other related factors responsible for pregnancy disorders and RMs to guide appropriate and active management strategies. Addressing thrombophilia continues to present challenges in terms of effective treatment. The current review aims to address the heterogeneity of RM as a therapeutic challenge, emphasizing the need for standardized diagnostic tests and well-designed multicenter research trials to gather robust, evidence-based data on thrombophilic causes of RM and provide effective treatment. The goal is to enhance the understanding of thrombophilic factors and genetic landscapes associated with RM through various approaches, including candidate gene studies, genome-wide association studies, and high-throughput sequencing. Meta-analyses have underscored the significance of genetic aberrations in RM, highlighting the necessity for identifying critical mutations implicated in the etiopathogenesis of miscarriages to pave the way for implementation of targeted clinical therapies.