Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants

Abstract The coagulation factor XIII(FXIII) is a plasma circulating heterotetrameric protransglutaminase that acts at the end of the coagulation cascade by covalently cross‐linking preformed fibrin clots (to themselves and to fibrinolytic inhibitors) in order to stabilize them against fibrinolysis. It circulates in the plasma as a heterotetramer composed of two homomeric catalytic Factor XIIIA2 (FXIIIA2) and two homomeric protective/carrier Factor XIIIB2 subunit (FXIIIB2). Congenital deficiency of FXIII is of two types: severe homozygous/compound heterozygous FXIII deficiency which results in severe bleeding symptoms and mild heterozygous FXIII deficiency which is associated with mild bleeding (only upon trauma) or an asymptomatic phenotype. Defects in the F13B gene (Factor XIIIB subunit) occur more frequently in mild FXIII deficiency patients than in severe FXIII deficiency. We had recently reported secretion‐related defects for seven previously reported F13B missense mutations. In the present study we further analyze the underlying molecular pathological mechanisms as well as the heterozygous expression phenotype for these mutations using a combination of in vitro heterologous expression (in HEK293T cells) and confocal microscopy. In combination with the in vitro work we have also performed an in silico solvated molecular dynamic simulation study on previously reported FXIIIB subunit sushi domain homology models in order to predict the putative structure‐functional im...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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OBJECTIVES: This pilot study investigated the safety and efficacy of a novel shunt surgery combined with foam sclerotherapy of varices in patients with prehepatic portal hypertension. METHODS: Twenty-seven patients who were diagnosed with prehepatic portal hypertension and underwent shunt surgeries were divided into three groups by surgery type: shunt surgery alone (Group A), shunt surgery and devascularization (Group B), and shunt surgery combined with foam sclerotherapy (Group C). Between-group differences in operation time, intraoperative blood loss, portal pressure decrease, postoperative complications, rebleeding rate...
Source: Clinics - Category: General Medicine Source Type: research
Publication date: Available online 18 August 2019Source: Journal of Oral Biology and Craniofacial ResearchAuthor(s): Sourav Sarkar, N.T. Prashanth, E.S. Shobha, Vinod Rangan, G. NikhilaAbstractObjectivesThe aim of this study is to compare the effectiveness of Platelet Rich Fibrin gel and Chitosan gel dressing in providing hemostasis in patients receiving Oral Antiplatelet Therapy and also to evaluate their surgical healing outcome following dental extractions.MethodologyA total of 60 patients under Oral Antiplatelet Therapy indicated for tooth extraction were included for treatment in the study without altering the oral an...
Source: Journal of Oral Biology and Craniofacial Research - Category: Dentistry Source Type: research
Publication date: December 2019Source: Materials Science and Engineering: C, Volume 105Author(s): Mei Long, Bin Zhang, Siyu Peng, Juan Liao, Yi Zhang, Jie Wang, Mi Wang, Bo Qin, Jufang Huang, Jing Huang, Xiaoping Chen, Huaming YangAbstractUncontrolled bleeding following trauma is associated with a high risk of death. The two-dimensional (2D) nanoclay kaolinite as an effective hemostatic has been developed for early intervention to prevent blood loss. However, the interfacial interactions between kaolinite and blood cells in hemostasis, and the effects of the stacking structure or particle size of kaolinite on bleeding cont...
Source: Materials Science and Engineering: C - Category: Materials Science Source Type: research
Any of you guys and gals giving TXA for - uterine bleeding - epistaxis - GI bleeding - any other bleeding Better yet...any of you guys and gals writing scripts for TXA? Someone in my family was having heaving menstrual bleeding for months and her Gynecologist prescribed TXA. She asked me whether it was safe to take and honestly I didn't know much about it overall beside it's use in bleeding in major trauma.
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Emergency Medicine Source Type: forums
This article is an up-to-date review of the management of chest tumors with embolization and its variants. [...] Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Seminars in Interventional Radiology - Category: Radiology Authors: Tags: Review Article Source Type: research
ConclusionsNovel, disposable endoscopic scissors appear to be highly effective and safe for removal of suture material with high technical success and minimal adverse events.
Source: Obesity Surgery - Category: Surgery Source Type: research
AbstractBackgroundAlthough endoscopy is the standard diagnostic screening test to identify esophageal varices in patients with chronic liver disease (CLD), selective endoscopy in patients who are at higher risk of having varices may be cost-effective in a resource-constrained country. The aim of this prospective study was to identify non-endoscopic parameters that may predict the presence of varices, especially high-risk esophageal varices in children with CLD.MethodsFrom January 2016 through March 2018, consecutive children with CLD without a history of variceal bleeding were prospectively included. Esophagogastroduodenos...
Source: Indian Journal of Gastroenterology - Category: Gastroenterology Source Type: research
ConclusionsAmong patients admitted with gastrointestinal bleeding, there was no statistically significant difference in in-hospital mortality between prior use of DOAC and warfarin.
Source: American Heart Journal - Category: Cardiology Source Type: research
The monitoring of unfractionated heparin (UFH) reversal with protamine plays a crucial role for bleeding management after cardio-pulmonary bypass (CPB) in congenital cardiac surgery. The current standard for the monitoring of UFH and its reversal is the activated clotting time (ACT). While the ACT is affected by other CPB-associated pathologies a bedside technique with more specific heparin-related results would be very helpful. The new point-of-care viscoelastic test Haemonetics TEG ® 6s, which is based on small blood samples may fulfill these requirements.
Source: Thrombosis Research - Category: Hematology Authors: Tags: Full Length Article Source Type: research
Authors: Mumcu E, Dayan SÇ Abstract BACKGROUND Smoking may be a risk factor for marginal bone loss (MBL) and oral mucosal inflammation surrounding dental implants. This retrospective study evaluated the effects of smoking on dental implants in patients with fixed implant-supported prostheses over a period of 36 months following loading. MATERIAL AND METHODS We assessed 120 patients (68 women, 52 men, ages 19-74 years (mean age: 55.10 years) with 315 implants. Implants were classified according to location in the upper and lower jaws and anterior (placed between canines) or posterior (placed between pre-molar...
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
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