Thrombophilia

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...

BACKGROUND: Recurrent pregnancy loss (RPL) is a complicated reproductive disorder with underlying genetic and immunological causes. RPL may be influenced by hereditary thrombophilia, a class of blood clotting-related genetic abnormalities, via the vascular and immune systems. This study examines the immunological characteristics that hereditary thrombophilia patients have in common with RPL. METHODS: A prospective cohort study included 300 patients split into two groups: a control group without hereditary thrombophilia and a group with the condition...

OBJECTIVE: To evaluate the short-term outcomes and safety of syringe-assisted test-aspiration with mechanical aspiration thrombectomy in the treatment of deep venous thrombosis. METHODS: This was a single-center, retrospective study of hospitalized patients with iliofemoral and/or inferior vena caval deep venous thrombosis, excluding those with pulmonary embolism. We collected the following patient data from the electronic medical records: age, sex, provoked/unprovoked deep venous thrombosis, symptom duration, thrombosed segments, and the presence of a tumor, thrombophilia, diabetes, and/or iliac vein compression syndrome...

BACKGROUND: Despite women having fewer traditional risk factors (eg, hypertension, diabetes), strokes are more common in women than men aged ≤45 years. This study examined the contributions of traditional and nontraditional risk factors (eg, migraine, thrombophilia) in the development of strokes among young adults. METHODS: This retrospective case-control study used Colorado's All Payer Claims Database (2012-2019). We identified index stroke events in young adults (aged 18-55 years), matched 1:3 to stroke-free controls, by (1) sex, (2) age±2 years, (3) insurance type, and (4) prestroke period...

INTRODUCTION: Recently, it has been reported that there is a great diversity in strategies used for thromboprophylaxis in patients with Cushing's syndrome (CS). An aim of this review was to discuss these practices in light of the existing data on the thrombotic risk in patients with CS and guidelines for medically ill patients. METHODS: The four relevant topics and questions on thrombotic risk in CS were identified. The current guidelines on prevention and diagnosis of venous thromboembolism (VTE) were reviewed for the answers...

The aim of this study was to evaluate the impact of methylene tetrahydrofolate reductase (MTHFR) rs1801133 (C→T667 transition) on age at first idiopathic portal vein thrombosis (PVT) and to identify clinical and/or laboratory variables influencing age at first PVT, including plasma homocysteine and the prothrombin rs1799963 PT (G→A transition at position 20210) (PT) mutation. A retrospective cross-sectional cohort, including 15 MTHFR TT, 32 MTHFR TC and 22 MTHFR CC idiopathic PVT participants contributing demographics, age at PVT, plasma concentrations of homocysteine and of natural anticoagulants...

A 45-year-old female presented with unprovoked recurrent venous thromboembolism (VTE), in unusual sites, and pancytopenia, posing a complex diagnostic challenge. Work-up for inherited thrombophilia, antiphospholipid syndrome (APLS) and paroxysmal nocturnal haemoglobinuria were unremarkable. Investigations revealed autoimmune thyroid disease, and a mixed iron/vitamin B12 deficiency due to pernicious anaemia and resultant atrophic gastritis. Hyperhomocysteinaemia due to vitamin B12 deficiency was identified as a potential contributor to her recurrent VTE...

Background Helicobacter pylori ( H. pylori ) is one of the most prevalent causes of chronic gastritis that can lead to gastric cancer if left untreated. Currently, endoscopy and histology are the gold standard tests for the diagnosis of H. pylori gastritis. Recently, studies have shown the utility of narrow-band imaging (NBI) in predicting H. pylori gastritis. Therefore, we aimed to determine the diagnostic accuracy of NBI in predicting H. pylori gastritis in patients with dyspepsia. Methodology After obtaining approval from the Ethical Review Committee, Sindh Institute of Urology and Transplantation, this cross-sectional study was conducted in the outpatient Clinic of Hepatogastroenterology of the institute...