- Sodium dehydroacetate-induced disorder of coagulation function in broiler chickens and the protective effect afforded by vitamin K. [Journal Article]Poult Sci. 2023 Jan 06; 102(3):102482.PS
- Sodium dehydroacetate (S-DHA) is used widely as a preservative in several products, including poultry feed. The anticoagulation effect of 200 mg/kg S-DHA in rats has been reported to accompany a reduction in hepatic expression of vitamin K epoxide reductase complex 1 (VKORC1). Poultry and mammals have different physiology and coagulation systems, and species differences in VKORC1 expression have …
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- Little discrepancy between one-stage and chromogenic factor VIII (FVIII)/IX assays in a large international cohort of persons with nonsevere hemophilia A and B. [Journal Article]J Thromb Haemost. 2022 Dec 22 [Online ahead of print]JT
- CONCLUSIONS: Little assay discrepancy was observed despite the presence of mutations previously associated with discrepancy, suggesting that the presence and magnitude of assay discrepancy are largely determined by laboratory variables.
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- Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients. [Journal Article]J Thromb Haemost. 2022 Dec 22 [Online ahead of print]JT
- CONCLUSIONS: We elucidated the causing defect in three-quarters of the families included in this study, and we reported new F9 deep intronic variants that can cause hemophilia B.
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- Gene therapy for hemophilia: looking beyond factor expression. [Review]Exp Biol Med (Maywood). 2023 Jan 23 [Online ahead of print]EB
- Hemophilia A (factor VIII [FVIII] deficiency) and hemophilia B (factor IX [FIX] deficiency) are the X-linked recessive bleeding disorders that clinically manifest with recurrent bleeding, predominantly into muscles and joints. In its severe presentation, when factor activity is less than 1% of normal, hemophilia presents with spontaneous musculoskeletal bleeds and may progress to debilitating chr…
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- Protection against visible light by dihydroxyacetone in erythropoietic protoporphyria. [Journal Article]Photodiagnosis Photodyn Ther. 2023 Jan 20 [Online ahead of print]PP
- CONCLUSIONS: Both the theoretical estimates and the uncontrolled study suggest that sunless tanning with DHA reduces photosensitivity in patients with EPP. Our hypothesis is that skin treated with DHA can tolerate twice the daylight dose compared to untreated skin before onset of skin symptoms. To validate this conclusion, we plan a randomized clinical trial to determine the effect of DHA application to reduce photosensitivity in patients with EPP under controlled clinical conditions. The study protocol for this trial is presented in the paper.
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- Factor assay in victims of snake bite: Experience from a tertiary care institute in South India. [Journal Article]
- CONCLUSIONS: Early detection and treatment of envenomation remains the cornerstone of managing snake venom-induced consumptive coagulopathy. Anti-snake venom plays a major role in the reversal of coagulopathy. Blood and blood products would be useful when coagulopathy does not revert by ASV alone. Evidence-based transfusion can be implemented and cryoprecipitate may be used as many of the patients had factor XIII and fibrinogen deficiency as part of venom-induced coagulopathy. To improve patient management and thereby the outcome of patients CMEs and training programs for the treating physicians also has to be implemented so that guidelines are formulated and followed.
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- On Associations between Fear-Induced Aggression, Bdnf Transcripts, and Serotonin Receptors in the Brains of Norway Rats: An Influence of Antiaggressive Drug TC-2153. [Journal Article]
- The Bdnf (brain-derived neurotrophic factor) gene contains eight regulatory exons (I-VIII) alternatively spliced to the protein-coding exon IX. Only exons I, II, IV, and VI are relatively well studied. The BDNF system and brain serotonergic system are tightly interconnected and associated with aggression. The benzopentathiepine TC-2153 affects both systems and exerts antiaggressive action. Our ai…
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- Health Related Quality of Life and Psychopathological Symptoms in People with Hemophilia, Bloodborne Co-Infections and Comorbidities: An Italian Multicenter Observational Study. [Journal Article]
- CONCLUSIONS: Our preliminary results must be confirmed to deepen the findings between mental health and hemophilia.
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- How to translate and implement the current science of gene therapy into haemophilia care? [Review]
- Gene-based therapy opens an entirely new paradigm in managing people with haemophilia (PWH), offering them the possibility of a functional cure by enabling continuous expression of factor VIII (FVIII) or factor IX (FIX) after transfer of a functional gene designed to replace the PWH's own defective gene. In recent years, significant advances in gene therapy have been made, resulting in clotting f…
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- Prothrombin Time and Coagulation Factor IX as Hemostatic Risk Markers for Legg- Calvé-Perthes Disease. [Journal Article]
- CONCLUSIONS: Diminished prothrombin time and increase in FV activity, FVIII, FIX, and Hcy concentration support the hypothesis that microthrombi formation in small-caliber vessels could be causing avascularity and femoral necrosis, which are traits of LCPD. In addition, based on our results, we believe that the laboratory studies carried out are very useful in the diagnosis and treatment of LCPD.
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- Development and validation of the Symptomatic Transdiagnostic Test (S2T). [Journal Article]Encephale. 2023 Jan 12 [Online ahead of print]E
- CONCLUSIONS: The S2T is a relevant tool for clinicians and researchers to assess the psychopathological profile. The main psychopathological symptoms are negatively related to the psychological skills.
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- Cost analysis of extended half-life recombinant factor IX products in the treatment of haemophilia B in Italy: an update. [Journal Article]
- Haemophilia B (HB) is a rare disease which may lead to chronic disabling arthropathy, resulting in a significant clinical, social and economic impact. In recent years, new extended half-life (EHL) factor IX concentrates produced by recombinant technology (rFIX) have been developed. They have shown significantly prolonged half-life as compared to other rFIX products and improved bleeding control w…
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- 3-Factor versus 4-Factor Prothrombin Complex Concentrates for the Reversal of Vitamin K Antagonist-Associated Coagulopathy: A Systematic Review and Meta-analysis. [Meta-Analysis]Thromb Haemost. 2023 Jan; 123(1):40-53.TH
- Long-term anticoagulation is used worldwide to prevent or treat thrombotic events. Anticoagulant therapy using vitamin K antagonists (VKAs) is well established; however, anticoagulants carry an increased risk of potentially life-threatening bleeding. In cases of bleeding or need for surgery, patients require careful management, balancing the need for rapid anticoagulant reversal with risk of thro…
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- Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency. [Journal Article]
- CONCLUSIONS: The p.Asn460Thrfs*20 and p.Arg229* variants of SERPINC1 were responsible for the two hereditary AT deficiency pedigrees, which led to AT deficiency by different mechanisms. The p.Asn460Thrfs*20 variant is reported for the first time.
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- Risk Factors for Incident CKD in Black and White Americans: The REGARDS Study. [Journal Article]Am J Kidney Dis. 2023 Jan 05 [Online ahead of print]AJ
- CONCLUSIONS: Established CKD risk factors accounted for higher risk of incident CKD in Black vs. White individuals. Albuminuria was a stronger risk factor for eGFR decline and incident CKD in Black compared to White individuals. Living in the US stroke belt is a novel risk factor for CKD.
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- Left Atrial Volumetric and Functional Properties in Hemophilia - Insights from a Three-Dimensional Speckle-Tracking Echocardiographic MAGYAR-Path Study. [Journal Article]
- CONCLUSIONS: Hemophilia is not associated with LA volumetric changes, but mild LA functional abnormalities are present.
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- Cycloartenyl Ferulate Is the Predominant Compound in Brown Rice Conferring Cytoprotective Potential against Oxidative Stress-Induced Cytotoxicity. [Journal Article]
- Since brown rice extract is a rich source of biologically active compounds, the present study is aimed to quantify the major compounds in brown rice and to compare their cytoprotective potential against oxidative stress. The content of the main hydrophobic compounds in brown rice followed the order of cycloartenyl ferulate (CAF) (89.00 ± 8.07 nmol/g) >> α-tocopherol (αT) (19.73 ± 2.28 nmol/g) > γ…
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- Thromboembolic Disease in Haemophilic Patients Undergoing Major Orthopaedic Surgery: Is Thromboprophylaxis Mandatory? [Review]
- Haemophilia is a rare genetic disorder, that results from various degrees of deficiency of coagulation factor VIII (haemophilia A), or factor IX (haemophilia B), with an X-linked transmission. The patients affected are in the majority of cases males (who inherit the affected X-chromosome from the maternal side), with rare cases of females with haemophilia (FVIII or FIX < 40 IU/dL), situations in …
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- The development of ankylosing spondylitis in a patient with familial hemophilia. [Case Reports]Int J Rheum Dis. 2023 Jan 04 [Online ahead of print]IJ
- Hemophilia is a rare inherited disease which causes bleeding due to Factor VIII or Factor IX deficiency. It is usually X-linked recessive and typically affects males. Arthropathy occurs as a result of cartilage damage and chronic synovitis due to recurrent intra-articular bleeding in hemophilic patients and is mostly seen in the knee, shoulder, hip and ankle joints. There are many other diseases …
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- Pathogenesis and treatment of osteoporosis in patients with hemophilia. [Review]
- CONCLUSIONS: This review summarizes recent progress in research on the pathogenesis of osteoporosis in PWH and provides insights into potential treatment for osteoporosis in PWH.
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- On the need for standardized reporting of photophysical parameters of in vitro photodynamic therapy studies. [Review]Photodiagnosis Photodyn Ther. 2022 Dec 29; 41:103263.PP
- In vitro dose escalation experiments are one of the first gatekeepers in therapeutic evaluation and development. This also holds for evaluating novel photosensitizers (PS) and Photodynamic Therapy (PDT) co-therapies as needed to provide dose response guidelines before engaging in further pre-clinical studies. The dose needed to achieve 50% cell kill (LD50) is a standard metric to report the poten…
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- A novel mouse whole blood thrombin generation assay sensitive to FXI- and FIX-mediated amplification of coagulation. [Journal Article]Blood Adv. 2022 Dec 30 [Online ahead of print]BA
- Thrombin generation (TG) assays serve as valuable tools to study the amplifying roles of intrinsic pathway factors in human coagulation and provide functional insight into the increased bleeding observed in individuals deficient in factors (F) XI, IX or VIII. Mice are used extensively in hemostasis research due to the availability of coagulation factor deficient mice. However, phenotypic differen…
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- Primary prophylaxis in children with severe haemophilia A and B-Implementation over the last 20 years as illustrated in real-world data in the PedNet cohorts. [Journal Article]Haemophilia. 2022 Dec 26 [Online ahead of print]H
- CONCLUSIONS: Primary prophylaxis nowadays starts at an earlier age: before any joint bleed (60% of patients with SHA and SHB). Approximately 70% started on a once-weekly schedule with significantly reduced doses in SHA but unchanged in SHB.
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- Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice. [Review]
- Hemophilia A and hemophilia B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of coagulation FVIII or FIX activity levels, which is determined by the type of the pathogenic variants in the genes encoding the two factors (F8 and F9, respectively). Molecular…
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- Markers of Hereditary Thrombophilia with Unclear Significance. [Review]Hamostaseologie. 2022 Dec; 42(6):370-380.H
- Thrombophilia leads to an increased risk of venous thromboembolism. Widely accepted risk factors for thrombophilia comprise deficiencies of protein C, protein S, and antithrombin, as well as the factor V "Leiden" mutation, the prothrombin G20210A mutation, dysfibrinogenemia, and, albeit less conclusive, increased levels of factor VIII. Besides these established markers of thrombophilia, risk fact…
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- Pharmacokinetic parameters of recombinant factor IX Fc fusion protein are not influenced by factor IX antigen levels in subjects from the Phase 3 B-LONG trial. [Clinical Trial, Phase III]Haemophilia. 2023 Jan; 29(1):404-407.H
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- Perioperative continuous infusions of factor VIII versus factor IX for patients with hemophilia A or B undergoing major surgery. [Journal Article]J Thromb Thrombolysis. 2022 Dec 22 [Online ahead of print]JT
- Continuous factor VIII (FVIII) or factor IX (FIX) infusions are commonly used for patients with hemophilia A (HA) or B (HB) undergoing surgery to secure perioperative hemostasis. To describe differences between the initial recovery and subsequent FIX and FVIII levels, and describe clinical outcomes among HB and HA patients receiving perioperative continuous infusion (CI) of recombinant FVIII and …
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- Multifunctional Protein Hybrid Nanoplatform for Synergetic Photodynamic-Chemotherapy of Malignant Carcinoma by Homologous Targeting Combined with Oxygen Transport. [Journal Article]Adv Sci (Weinh). 2022 Dec 21 [Online ahead of print]AS
- Photodynamic therapy (PDT) under hypoxic conditions and drug resistance in chemotherapy are perplexing problems in anti-tumor treatment. In addition, central nervous system neoplasm-targeted nanoplatforms are urgently required. To address these issues, a new multi-functional protein hybrid nanoplatform is designed, consisting of transferrin (TFR) as the multicategory solid tumor recognizer and he…
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- Biomarkers of Vitamin D Metabolism and Hip and Vertebral Fracture Risk: The Multi-Ethnic Study of Atherosclerosis. [Journal Article]
- Studies on associations between biomarkers of vitamin D metabolism and fracture risk have focused predominantly on White or elderly populations and may not be generalizable to relatively healthy multiethnic populations. We tested associations of total 25-hydroxyvitamin D (25[OH]D), the ratio of 24,25-dihydroxyvitamin D3 to 25-hydroxyvitamin D3 (vitamin D metabolite ratio, VDMR), parathyroid hormo…
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- First hemophilia B gene therapy approved: More than two decades in the making. [Editorial]
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