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701por Cuzmici-Barabaș, Zina, Cătană, Andreea, Militaru, Mariela Sanda, Garbea, Oana, Cătană, Iuliu Vlad, Pop, Ioan Victor“…Molecular testing confirmed the diagnosis of genetic thrombophilia, due to the homozygous V Leiden, homozygous MTHFR A1298C, and heterozygous MTHFR C677T mutations. …”
Publicado 2022
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702por Pablo-Moreno, Juan A. De, Serrano, Luis Javier, Revuelta, Luis, Sánchez, María José, Liras, Antonio“…In cases of thrombophilia (deficiency of protein C, protein S, or factor V Leiden), treatment may consist in direct oral anticoagulants, replacement therapy (plasma or recombinant ADAMTS13) in cases of a congenital deficiency of ADAMTS13, or immunomodulators (prednisone) if the thrombophilia is autoimmune. …”
Publicado 2022
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703por Balinski, Alexander M, Harvey, Rachel N, Ko, Ryan B, Smalley, Melanie M, Cutler, Nathan E, Siddiqi, Maham T“…Outpatient genetic testing for Factor V Leiden, protein C, protein S, and prothrombin G20210 was normal. …”
Publicado 2022
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704por Klimek, Ludger, Hagemann, Jan, Döge, Julia, Koll, Laura, Cuevas, Mandy, Klimek, Felix, Hummel, Thomas“…Obwohl die Spontanheilungsrate hoch ist, haben neuere Studien gezeigt, dass bis zu 7 % der Patienten mehr als zwölf Monate nach Beginn der Infektion anosmisch bleiben, sodass weltweit Millionen von Menschen unter schweren Riechstörungen leiden. Riechtraining ist nach wie vor die erste empfohlene Behandlungsform. …”
Publicado 2022
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706por Iannetti, Ludovico, Scarinci, Fabio, Alisi, Ludovico, Beccia, Alessandro, Cacciamani, Andrea, Saturno, Maria Carmela, Gharbiya, Magda“…The full serologic panel was negative except for the heterozygous mutation of factor V Leiden. Clinical and biochemical parameters suggested a diagnosis of Eales disease. …”
Publicado 2023
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707por Mihai, Bianca-Margareta, Salmen, Teodor, Cioca, Ana-Maria, Bohîlțea, Roxana-Elena“…The elements from the thrombophilia diagnostic predict IUGR, factor V Leiden mutation, MTHFR C667T mutation, protein S deficiency, antithrombin deficiency, factor VII polymorphism, and antiphospholipid antibodies, while the association of protein C, PAI-1 and certain combinations of mutations are still under debate and require the collection of more data. …”
Publicado 2023
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708“…Hypercoagulability work-up was obtained, and the patient was found to be heterozygous for Factor V Leiden. Interrupted IVC with azygos continuation is an uncommon, and mostly a benign vascular malformation, resulting from abnormal development of IVC-contributing segments during embryogenesis. …”
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711por Poonen, Bjorn“…-Hendrik Lenstra, University Leiden Understanding rational points on arbitrary algebraic varieties is the ultimate challenge. …”
Publicado 2017
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712por Yousaf, Muhammad, Khan, Qaisar Ali, Anthony, Michelle R, Badshah, Aliena, Abdi, Parsa, Farkouh, Christopher, Hadi, Faiza Amatul, Jan, Rukhsar, Khan, Arooba, Iram, Sumaira“…INTRODUCTION: Cerebral venous sinus thrombosis (CVST) is a rare but highly fatal neurological condition mostly caused by prothrombotic conditions like antiphospholipid syndrome, factor V Leiden, and G20210A prothrombin polymorphism. Snake bites are a rare cause of cerebral venous sinus thrombosis that must be recognized and treated promptly to improve survival. …”
Publicado 2023
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713“…This paper proposes a pandemic control method, consisting of the scientific delineation of urban areas based on multimodal transportation data. An improved Leiden method based on the gravity model is used to construct a preliminary zoning scheme, which is then modified by spatial constraints. …”
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714por Apeksha Reddy, Pulliahgaru, Sreenivasulu, Himabindu, Shokrolahi, Mohammad, Muppalla, Sudheer Kumar, Abdilov, Nurlan, Ramar, Rajasekar, Halappa Nagaraj, Raghu, Vuppalapati, Sravya“…Grades I and II have been linked to mutations in the type IV procollagen gene, COL4A1, as well as prothrombin G20210A and factor V Leiden mutations. Intraventricular hemorrhage can be detected using brain imaging in the first seven to 14 days following delivery. …”
Publicado 2023
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715“…Paul, MN, USA), Glass Carbomer (GC, GCP Dental, Leiden, The Netherlands), Bioactive (BA, PULPDENT, Corporation, Watertown, MA, USA) and Fuji II LC (FJ, GC, Tokyo, Japan) were used to prepare the specimens and they were kept in distilled water at 37 °C for 24 h. …”
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716por Linh, Dao Nguyen Ha, Van Huy, Nguyen, Nguyen, Phuoc‐Dung, Le Thi, Phuong, Tuan, Hoang Anh, Van Nguyen, Trong, Tran, Thu Ha, Tran, Hai Anh, Ta, Thanh Dat, Pham, Tuan L. A., Bui, The‐Hung, Tran, Thinh Huy, Van Ta, Thanh, Tran, Van‐Khanh“…There were five novel mutations and one unreported which have not been found in large databases such as Leiden Open Variation Database (LOVD) and ClinVar. …”
Publicado 2023
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717“…METHODS: A single-centre retrospective study of Ach patients that visited the Neurosurgery outpatient clinic of the Leiden University Medical Centre (LUMC) between 2019 and 2022 was performed. …”
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718por Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark“…METHODS: We have used in vitro biochemical assays to investigate the effects on TSC1 function of TSC1 missense variants submitted to the Leiden Open Variation Database. RESULTS: We identified specific substitutions between amino acids 50 and 190 in the N-terminal region of TSC1 that result in reduced steady state levels of the protein and lead to increased mTOR signalling. …”
Publicado 2009
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719“…In the first wave classic susceptibility markers associated with other diseases (such as the Leiden mutation in Factor V and mutations in the prothrombin and 5,10-methylenetetrahydrofolate reductase (MTHFR) genes) were tested for their role in stroke. …”
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720“…Several recent studies have discussed the correlation between existence of coagulation factors such as V Leiden and prothrombin mutation (G20210A) as risk factors for incidence of stroke. …”
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