Thrombophilia

Inherited thrombophilia (IT) workup is commonly pursued in venous thromboembolism (VTE) patients. Recent American Society of Hematology (ASH) guidelines recommend a selective approach to IT testing, nevertheless, evidence on whether thrombophilia testing can actually improve patient-important outcomes through tailored management is limited. Data from the large prospective RIETE registry was analyzed to compare VTE risk factors, management and outcomes between patients who were tested for IT and untested patients, during anticoagulant treatment and following its discontinuation...

BACKGROUND: Anomalous aortic origin of a coronary artery from the opposite sinus is a rare congenital abnormality that may be encountered during primary percutaneous coronary intervention (PCI) for ST-elevation myocardial infarction (STEMI). CASE SUMMARY: A 65-year-old man presented with chest pain and signs of heart failure. Electrocardiogram demonstrated atrial fibrillation with ST elevation in the high lateral leads, and he was taken emergently to the cardiac catheterization laboratory for primary PCI...

Inflammatory bowel diseases (IBD) are significantly associated with adverse pregnancy and neonatal outcomes, though the pathomechanism is yet unknown. To investigate the relationship between IBD and adverse pregnancy outcomes by comparing neonatal outcomes and placental histopathology in two matched groups of patients with and without IBD. In this retrospective study, data of all patients who gave birth between 2008-2021 and were diagnosed with IBD were reviewed and compared to a control group matching two control cases for every IBD case...

Antiphospholipid syndrome (APS) is characterized by the occurrence of thrombotic events and/or obstetric complications in the presence of antiphospholipid antibodies. It is considered one of the most common acquired thrombophilias. The presentation of stroke in patients with APS has been described in some studies; however, it is not frequent enough and there is not much information available regarding the indications for pharmacological thrombolysis and the safety of thrombolytic treatment. Likewise, current evidence does not describe contraindications to thrombolytic therapy in cases of this diagnosis, which makes management with fibrinolysis safe in these cases...

BACKGROUND: Idiopathic nephrotic syndrome (NS) presents as a hypercoagulable state, of which thromboembolism (TE) is a well-known life-threatening complication. Although TE is more likely to occur in venous vessels than arterial vessels, arterial TE is important because it may cause after-effects, including tissue necrosis and cerebral infarction (CI); therefore, prompt diagnosis and appropriate treatment are required. We report a pediatric NS case with multiple CIs. CASE PRESENTATION: A 14-year-7-month-old Japanese girl was diagnosed with frequent relapsing NS, accompanied by headache and disturbance of consciousness during the second relapse...

Cerebral venous sinus thrombosis (CVST) is a rare cause of strokes and is most common in younger patients particularly those less than 50 years of age. It is more common in females than in males and is known to be associated with pregnancy, puerperium, oral contraception, congenital and acquired thrombophilia, and malignancy. Less commonly, it has been shown to be associated with infections and more recently has been found to be associated with COVID-19 infection with thrombocytopenia and the COVID-19 vaccine AstraZeneca...

Cerebral palsy (CP) is the most common disabling disease in children, and motor dysfunction is the core symptom of CP. Although relevant risk factors have been found to be closely associated with CP: congenital malformations, multiple gestation, prematurity, intrauterine inflammation and infection, birth asphyxia, thrombophilia, and perinatal stroke. Its important pathophysiological mechanism is amniotic fluid infection and intraamniotic inflammation leading to fetal developing brain damage, which may last for many years...

Over the last years, new evidence has accumulated on multiple aspects of diagnosis and management of cerebral venous and dural sinus thrombosis (CVT) including identification of new risk factors, studies on interventional treatment as well as treatment with direct oral anticoagulants. Based on the GRADE questions of the European Stroke Organization guideline on this topic, the new German guideline on CVT is a consensus between expert representatives of Austria, Germany and Switzerland. New recommendations include:• CVT occurring in the first weeks after SARS-CoV-2 vaccination with vector vaccines may be associated with severe thrombocytopenia, indicating the presence of a prothrombotic immunogenic cause (Vaccine-induced immune thrombotic thrombocytopenia; VITT)...

Spontaneous uterine rupture in unscarred uteri complicated by pulmonary emboli is a rare event with major maternal morbidity and mortality. This is a case of a 32-year-old woman, G1P0, at term, with no pertinent past medical/surgical history, who underwent an emergency cesarean delivery for failed induction of labor complicated by uterine rupture. Post-operatively, the patient was tachycardic and hypoxic. CT arteriogram revealed massive bilateral pulmonary emboli, and she was transferred for specialist care...

Decision analysis can play an essential role in informing practice guidelines. The American Society of Hematology (ASH) thrombophilia guidelines have made a significant step forward in demonstrating how decision modeling integrated within GRADE (Grading of Recommendations Assessment, Developing, and Evaluation) methodology can advance the field of guideline development. Although the ASH model was transparent and understandable, it does, however, suffer from the certain limitations that may have generated potentially wrong recommendations...

OBJECTIVE: To assess the appropriateness of laboratory testing intervals and antiphospholipid syndrome (APS) incidence. METHODS: Between January 2010 and August 2022, insurance claims data of patients with disease codes for other thrombophilia (D68.6) and APS (V253) were retrieved in South Korea. Patients who received antiphospholipid antibody tests more than twice were classified as having suspected APS. The interval between the first 2 antiphospholipid antibody tests was evaluated in the patients with suspected APS...

Introduction: Odontogenic maxillary sinusitis (OMS) is an infectious inflammatory pathology caused by a dental condition. Considering the anatomical relations with the orbit, maxillary sinus infection can easily spread, evolving into severe oculo-orbital complications that can sometimes be life-threatening. Material and methods: We performed a retrospective study of over 2 years, examining the data of 18 patients diagnosed with OMS with oculo-orbital complications. The patients were evaluated regarding their dental history, symptoms, clinical and endoscopic findings, ophthalmologic evaluation, bacteriologic tests, computed tomography (CT) imaging, medical and surgical treatment, and outcomes...

BACKGROUND: Inherited antithrombin (AT) deficiency (ATD) is a severe thrombophilia causing venous thromboembolism, which can be complicated by postthrombotic syndrome (PTS). Venous recanalization, used to treat PTS, often requires a temporary withdrawal of anticoagulant therapy. In ATD patients, there is a risk of insufficient perioperative anticoagulation due to altered heparin response. KEY CLINICAL QUESTION: There is no consensus on how to manage perioperative anticoagulation in ATD patients...

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BACKGROUND: Euploid blastocyst implantation failure may result from embryonic factors undetectable by preimplantation genetic testing for aneuploidy (PGT-A); however, various nonembryonic factors can also intricately interfere with implantation. This review seeks to clarify evidence-based testing and treatments for implantation failure after euploid embryo transfer. METHODS: We conducted a review of the literature on implantation failure after euploid embryo transfer or multiple embryo transfer cycles, which mainly included systematic reviews and meta-analyses...

INTRODUCTION: Paediatric vascular access is a demanding field. The need for a multidisciplinary team is mandatory in children with end-stage kidney disease (ESKD). Central venous catheters (CVCs) remain the preferred option worldwide. Recent emerging data demonstrated the benefits of using arteriovenous fistulas (AVFs) in the paediatric population for long-term vascular access. The small vessel size in children represents a surgical challenge for vascular access. CASE PRESENTATION: We report three cases from our haemodialysis department and the difficulty in maintaining permanent vascular access...

Hemoglobin (Hb) Volga is a rare, unstable β-chain hemoglobin variant (β27 Ala→Asp), causing chronic hemolytic anemia. This study presents two members of a Danish family, splenectomized due to Hb Volga at and with multiple thrombotic events. The proband was diagnosed with Hb Volga 9 years old and splenectomy was performed as a part of treatment. Throughout his life, he experienced multiple superficial thrombophlebitis, two episodes of distal deep venous thrombosis (DVT) on lower extremities (age 32 and 33) and a transient ischemic attack (TIA) presented as amaurosis fugax (age 51)...

The issue of infertility affects couples all over the world. Recurrent implantation failure (RIF) is caused by immunology, thrombophilias, endometrial receptivity, microbiota, anatomical anomalies, male factors, and embryo aneuploidy. An accurate evaluation of endometrial receptivity (ER) in cases of RIF during in-vitro fertilization (IVF) treatments is crucial to improve reproductive outcomes. To find her accurate window of implantation (WOI), a 34-year-old woman with unexplained RIF underwent an endometrial receptivity array (ERA) test...

Venous thromboembolism (VTE) is frequently encountered across various specialties. The management of VTE has become more nuanced, requiring consideration of several factors when deciding on the choice and duration of anticoagulation. This evidence-based review article summarises the current practice and evidence behind anticoagulation in VTE, incorporating national and international guidelines. Factors influencing decision-making around the choice and duration of anticoagulation, along with special circumstances such as cancer and antiphospholipid syndrome, are discussed...

Primary bone lymphoma of the scapula is a rare tumor that usually causes local pain. The presented patient suffered for two years from paresthesia, tingling, numbness, and edema of the little and ring fingers. The 45-year-old man underwent several radiological and neurological assessments of the palm, elbow, and neck before radiographs revealed a tumor of the left shoulder. Once diffuse large B-cell lymphoma was confirmed, immunochemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and methylprednisolone (R-CHOP) started...