Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

Šimurda, Tomáš; Sňahničanová, Zuzana; Loderer, Dušan; Sokol, Juraj; Staško, Ján; Lasabová, Zora; Kubisz, Peter

doi:10.1055/s-0036-1581104

Cited by 21 publications

(11 citation statements)

References 8 publications

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“…Moreover, in patients with increased risk of venous thromboembolism or haemorrhagic diathesis, shortening the time of the procedure is very important in order to avoid stroke/bleeding complications. This is the second reason for using proven screws and using an effective insertion technique [13,46].…”

Section: Discussionmentioning

confidence: 99%

Are Magnesium Screws Proper for Mandibular Condyle Head Osteosynthesis?

Kozakiewicz

2020

Materials

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Recently, magnesium alloys have gained a significant amount of recognition as potential biomaterials for degradable implants for craniofacial bone screws. Purpose: The aim of this work was to compare screws made specifically for mandibular head osteosynthesis from different materials. Materials and Methods: Screws measuring 14 mm made by one manufacturer specifically for mandibular head osteosynthesis out of the following materials were selected: magnesium (MgYREZr), titanium (Ti6Al7Nb), and polymer (PLGA). The axial pull-out strength and torsional properties were investigated. Results: Each type of screw presented different pull-out forces (Kruskal–Wallis test, p < 0.001). The magnesium screw had the highest pull-out force of 399 N (cracked without the screw out being pulled out), followed by the titanium screw, with a force of 340 N, and the PLGA screw, with a force of 138 N (always cracked at the base of the screw head without the screw being pulled out). ANOVA was performed for the maximal torques before damage to the screw (torsional properties), revealing that the maximal torque of the magnesium screw was 16 N·cm, while that of the titanium screw was 19 N·cm. The magnesium screw was significantly weaker than the titanium screw (p < 0.05). The measured torque and pull-out force were not related to each other (p > 0.05). Conclusion: Among the screws compared, the metal biodegradable magnesium screw seems to be the most suitable material for multiscrew mandibular head osteosynthesis, considering the condition of the fragile screwdriver socket.

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Section: Discussionmentioning

confidence: 99%

Are Magnesium Screws Proper for Mandibular Condyle Head Osteosynthesis?

Kozakiewicz

2020

Materials

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“…At the end of 2017, novel nonsense variants in afibrinogenemic patients have been reported. In a 28-year-old afibrinogenemic man presenting with mucocutaneous bleeding and blood losses into muscles, joints, and soft tissues, the Gln180Stop “Martin” variant was identified in FGB [ 43 , 44 ]. Naz and colleagues described the novel FGA p.Gln183stop and FGG p.Lys121stop nonsense variants in two afibrinogenemic patients from Pakistan [ 45 ].…”

Section: Afibrinogenemiamentioning

confidence: 99%

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders

Tiscia

Margaglione

2018

IJMS

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Congenital fibrinogen disorders can be quantitative (afibrinogenemia, hypofibrinogenemia) or functional (dysfibrinognemia). To date, several genetic variants have been identified in individuals with fibrinogen disorders. The complexity of the fibrinogen molecules, formed by three non-identical chains and with a trinodal organization, renders the identification of molecular causes and of clinical and biochemical phenotypes very challenging. However, the acknowledgement of the type of molecular defect is crucial for a safer therapy, which is going to improve the clinical management of these patients. In this review, some aspects concerning molecular and clinical findings available on congenital fibrinogen disorders will be discussed.

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“…Homozygous or heterozygous mutations in the three fibrinogen genes (Aα, Bβ, and γ) can lead to congenital quantitative fibrinogen disorders [ 10 ]. Afibrinogenemia is associated with homozygous or compound heterozygous mutations and hypofibrinogenemia is usually linked with heterozygous mutations [ 11 , 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders

Šimurda

Žolková

Sňahničanová

et al. 2017

IJMS

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Congenital fibrinogen disorders are caused by mutations in one of the three fibrinogen genes that affect the synthesis, assembly, intracellular processing, stability or secretion of fibrinogen. Functional studies of mutant Bβ-chains revealed the importance of individual residues as well as three-dimensional structures for fibrinogen assembly and secretion. This study describes two novel homozygous fibrinogen Bβ chain mutations in two Slovak families with afibrinogenemia and hypofibrinogenemia. Peripheral blood samples were collected from all subjects with the aim of identifying the causative mutation. Coagulation-related tests and rotational thromboelastometry were performed. All exons and exon–intron boundaries of the fibrinogen genes (FGA, FGB and FGG) were amplified by PCR followed by direct sequencing. Sequence analysis of the three fibrinogen genes allowed us to identify two novel homozygous mutations in the FGB gene. A novel Bβ chain truncation (BβGln180Stop) was detected in a 28-year-old afibrinogenemic man with bleeding episodes including repeated haemorrhaging into muscles, joints, and soft tissues, and mucocutaneous bleeding and a novel Bβ missense mutation (BβTyr368His) was found in a 62-year-old hypofibrinogenemic man with recurrent deep and superficial venous thromboses of the lower extremities. The novel missense mutation was confirmed by molecular modelling. Both studying the molecular anomalies and the modelling of fibrinogenic mutants help us to understand the extremely complex machinery of fibrinogen biosynthesis and finally better assess its correlation with the patient’s clinical course.

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Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

Cited by 21 publications

References 8 publications

Are Magnesium Screws Proper for Mandibular Condyle Head Osteosynthesis?

Are Magnesium Screws Proper for Mandibular Condyle Head Osteosynthesis?

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders

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