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https://www.readbyqxmd.com/read/29419864/-analysis-of-a-consanguineous-pedigree-affected-with-hereditary-coagulation-factor-xii-deficiency-caused-by-homozygous-gly341arg-mutation
#1
Lihong Yang, Saiyan Jin, Weidan Ji, Xiaoli Cheng, Xiaolong Li, Yanhui Jin, Mingshan Wang
OBJECTIVE To analyze the laboratory phenotype and FXII gene mutation in a consanguineous Chinese pedigree affected with factor XII (FXII) deficiency. METHODS Activated partial thromboplastin time (APTT), FXII activity (FXII:C) and FXII antigen (FXII:Ag) of the proband and her family members (10 individuals from 3 generations) were determined. Sanger sequencing was used to detect potential mutation within the 14 exons, their flanking regions and 5',3'-untranslated regions of the FXII gene. Suspected mutations were verified by backward sequencing...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29407154/porous-chitosan-microspheres-containing-zinc-ion-for-enhanced-thrombosis-and-hemostasis
#2
Meng Pan, Zonghao Tang, Jianbing Tu, Zhengchao Wang, Qinhui Chen, Rongdong Xiao, Haiqing Liu
Quick hemostats for non-lethal massive traumatic bleeding in battlefield and civilian accidents are important for reducing mortality and medical costs. Chitosan (CS) has been widely used as a clinic hemostat. To enhance its hemostatic efficiency, Zn2+ in the form of zinc alginate (ZnAlg) was introduced to CS to make porous CS@ZnAlg microspheres with ZnAlg component on the surface. Such microspheres were prepared by successive steps of micro-emulsion, polyelectrolyte adhesion, and thermally induced phase separation...
April 1, 2018: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/29404650/-coagulation-factors-and-multiple-sclerosis-key-factors-in-the-pathogenesis
#3
REVIEW
K Göbel, C Kleinschnitz, S G Meuth
Environmental factors and genetic predisposition influence the individual risk to develop multiple sclerosis (MS). Preclinical results in animal models of MS, such as experimental autoimmune encephalomyelitis (EAE), prove a significant contribution of the corpuscular and plasmatic coagulation system for the severity of MS. It was recently shown that key molecules of the coagulation cascade, such as fibrinogen, thrombin and factor XII can influence neuroinflammatory disorders such as MS. The inhibition of both fibrinogen and factor XII led to a significantly improved disease course in animal models...
February 5, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29393169/hereditary-and-acquired-angioedema-heterogeneity-of-pathogenesis-and-clinical-phenotypes
#4
Maria Bova, Giulia De Feo, Roberta Parente, Tiziana De Pasquale, Carmela Gravante, Stefano Pucci, Eustachio Nettis, Massimo Triggiani
Recurrent angioedema (AE) without wheals is increasingly recognized as a clinical entity and a frequent cause of admission to the emergency room. The Hereditary Angioedema Working Group (HAWK) classification allowed the scientific community to go beyond the semantic confusion that dominated this topic for decades. This classification distinguishes hereditary and acquired forms of AE, either related or unrelated to C1 inhibitor deficiency. Recently, additional mechanisms have been involved in the AE pathogenesis, including the uncontrolled activation of factor XII, generation of vasoactive mediators that induce dysregulation of endothelial functions, and bidirectional interactions between mast cell-derived mediators and the plasma contact system...
January 26, 2018: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29383625/genetic-analysis-of-a-novel-missense-mutation-gly542ser-with-factor-xii-deficiency-in-a-chinese-patient-of-consanguineous-marriage
#5
Anqing Zou, Mingshan Wang, Yanhui Jin, Xiaoli Cheng, Kankan Su, Lihong Yang
Coagulation factor XII deficiency is a rare autosomal recessive disorder, which could be found in a consanguineous family. We studied a Chinese family in which the activated partial thromboplastin time (APTT) of the proband had clearly prolonged up to 101.7 s, associated with low FXII activity of 3% and FXII antigen < 1%. To analyze the gene mutation in this FXII-deficient patient, we performed FXII mutation screening, and analyzed the DNA sequence of the F12 gene. A ClustalX-2.1-win and four online bioinformatics software services were used to study the conservatism and effects of the mutation...
January 30, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29381885/differential-expression-profiles-of-conserved-snail-transcription-factors-in-the-mouse-testis
#6
D J Micati, G R Hime, E A McLaughlin, H E Abud, K L Loveland
Snail transcription factors are key regulators of cellular transitions during embryonic development and tumorigenesis. The closely related SNAI1 and SNAI2 proteins induce epithelial-mesenchymal transitions (EMTs), acting predominantly as transcriptional repressors, while the functions of SNAI3 are unknown. An initial examination of Snai2-deficient mice provided evidence of deficient spermatogenesis. To address the hypothesis that Snail proteins are important for male fertility, this study provides the first comprehensive cellular expression profiles of all three mammalian Snail genes in the post-natal mouse testis...
January 30, 2018: Andrology
https://www.readbyqxmd.com/read/29376892/factor-xii-and-upar-upregulate-neutrophil-functions-to-influence-wound-healing
#7
Evi X Stavrou, Chao Fang, Kara L Bane, Andy T Long, Clément Naudin, Erdem Kucukal, Agharnan Gandhi, Adina Brett-Morris, Michele M Mumaw, Sudeh Izadmehr, Alona Merkulova, Cindy C Reynolds, Omar Alhalabi, Lalitha Nayak, Wen-Mei Yu, Cheng-Kui Qu, Howard J Meyerson, George R Dubyak, Umut A Gurkan, Marvin T Nieman, Anirban Sen Gupta, Thomas Renné, Alvin H Schmaier
Coagulation factor XII (FXII) deficiency is associated with decreased neutrophil migration, but the mechanisms remain uncharacterized. Here, we examine how FXII contributes to the inflammatory response. In 2 models of sterile inflammation, FXII-deficient mice (F12-/-) had fewer neutrophils recruited than WT mice. We discovered that neutrophils produced a pool of FXII that is functionally distinct from hepatic-derived FXII and contributes to neutrophil trafficking at sites of inflammation. FXII signals in neutrophils through urokinase plasminogen activator receptor-mediated (uPAR-mediated) Akt2 phosphorylation at S474 (pAktS474)...
January 29, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29356700/the-effects-of-transport-temperature-and-time-on-routine-and-specialized-coagulation-assays
#8
Yeowon A Kim, Kent B Lewandrowski, Fils-Amie Lucien, Elizabeth M Van Cott
: Coagulation laboratories have largely stopped transporting whole blood specimens on ice, due to adverse effects on factor VIII, von Willebrand factor, and the prothrombin time. However, it is unknown whether ice should be required or avoided for other coagulation assays. Furthermore, the amount of time that specimens remain stable during transportation at room temperature (RT) is also largely unknown for many coagulation tests. Therefore, this study investigated specimen stability on ice and RT for a comprehensive panel of coagulation tests...
March 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29354798/activity-of-factor-xii-locarno
#9
Bassem M Mohammed, Ivan Ivanov, Anton Matafonov, Jonas Emsley, David Gailani
Background: Factor XII (FXII) Locarno is a natural variant with proline replacing Arg353 at the activation cleavage site, preventing conversion to the fully active protease factor XIIa (FXIIa). Recently, we showed that FXII restricted to a single chain form (sc-FXII) by replacing Arg353 with alanine expresses proteolytic activity that is enhanced by cofactors such as polyphosphate. Aim: To determine if the Pro353 substitution affects the activity of sc-FXII. Methods: Wild type FXII (FXII-WT), FXII-R353A, and FXII Locarno (FXII-R353P) were tested for their abilities to activate prekallikrein, and to induce thrombin generation and coagulation in plasma in a factor XI-dependent manner...
January 2018: Research and Practice in Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29277609/ra-xii-exerts-anti-oxidant-and-anti-inflammatory-activities-on-lipopolysaccharide-induced-acute-renal-injury-by-suppressing-nf-%C3%AE%C2%BAb-and-mapks-regulated-by-ho-1-nrf2-pathway
#10
Xusheng An, Futai Shang
Acute kidney injury (AKI) is an abrupt loss of kidney function and severe AKI needs renal replacement therapeutic strategy and has high mortality. RA-XII is a natural cyclopeptide, isolated from the traditional Chinese medicine Rubia yunnanensis, exerting anti-inflammatory and anti-tumor activities. The present study aimed to explore the effects of RA-XII on LPS-induced ACI and the underlying molecular mechanism in TCMK-1 cells in vitro. The results indicated that RA-XII delayed the animal death caused by LPS in mice...
December 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29251173/plasmatic-carbonic-anhydrase-ix-as-a-diagnostic-marker-for-clear-cell-renal-cell-carcinoma
#11
Laura Lucarini, Lucia Magnelli, Nicola Schiavone, Alfonso Crisci, Alessio Innocenti, Luca Puccetti, Fabio Cianchi, Sara Peri, Claudiu T Supuran, Laura Papucci, Emanuela Masini
Carbonic anhydrase (CA, EC 4.2.1.1) IX is regarded as a tumour hypoxia marker and CA inhibitors have been proposed as a new class of antitumor agents, with one such agent in Phase II clinical trials. The expression of some CAs, in particular the isoforms CA IX and CA XII, has been correlated with tumour aggressiveness and progression in several cancers. The aim of this study was to evaluate the possibility that CA IX could represent a marker related to clear cell Renal Cell Carcinoma (ccRCC). Bcl-2 and Bax, and the activity of caspase-3, evaluated in tissue biopsies from patients, were congruent with resistance to apoptosis in ccRCCs with respect to healthy controls, respectively...
December 2018: Journal of Enzyme Inhibition and Medicinal Chemistry
https://www.readbyqxmd.com/read/29229544/a-new-textured-polyphosphazene-biomaterial-with-improved-blood-coagulation-and-microbial-infection-responses
#12
Li-Chong Xu, Zhongjing Li, Zhicheng Tian, Chen Chen, Harry R Allcock, Christopher A Siedlecki
A new poly[bis(octafluoropentoxy) phosphazene] (OFP) was synthesized for the purpose of blood contacting medical devices. OFP was further either developed into crosslinkable polyphosphazene (X-OFP) or blended with polyurethane (PU) as the mixture (OFP/PU) for improvement of mechanical property of polyphosphazene polymers. All the materials were fabricated as smooth films or further textured with submicron pillars for the assay of antimicrobial and antithrombotic properties. Results showed that crosslinkable OFP (X-OFP) and blends of OFP/PU successfully improved the mechanical strength of OFP and fewer defects of pillars were found on the textured polyphosphazene surfaces...
December 8, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/29226721/investigational-drugs-in-phase-i-and-phase-ii-clinical-trials-for-hereditary-angioedema
#13
Henriette Farkas, Márta Lídia Debreczeni, Kinga Viktória Kőhalmi
Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is a rare bradykinin-mediated disease characterized by recurrent subcutaneous and/or submucosal angioedematous attacks (HAE attacks), which occur unpredictably. The recurrent HAE attacks do not respond to conventional treatments, and may evolve into a life-threatening condition; therefore, special therapy is required. Areas covered: The agents used so far for the acute management of HAE attacks act by blocking the release of bradykinin, or its binding to its receptor...
January 2018: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/29214154/the-search-for-biomarkers-in-hereditary-angioedema
#14
REVIEW
Allen P Kaplan, Coen Maas
The unpredictable nature of attacks of tissue swelling in hereditary angioedema requires the identification of reliable biomarkers to monitor disease activity as well as response to therapy. At present, one can assess a C4 level (by ELISA) to assist in diagnosis but neither C4 nor C1 inhibitor levels reflect clinical course or prognosis. We will here review a collection of plasma proteins involved in blood coagulation, fibrinolysis, and innate immunity (Figure 1). A main focus is those proteins that are key to the formation of bradykinin (BK); namely, factor XII, plasma prekallikrein/kallikrein, high-molecular weight kininogen, and BK itself since overproduction of BK is key to the disease...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/29176937/proteomic-profiling-identifies-markers-for-inflammation-related-tumor-fibroblast-interaction
#15
Daniel Drev, Andrea Bileck, Zeynep N Erdem, Thomas Mohr, Gerald Timelthaler, Andrea Beer, Christopher Gerner, Brigitte Marian
Background: Cancer associated fibroblasts are activated in the tumor microenvironment and contribute to tumor progression, angiogenesis, extracellular matrix remodeling, and inflammation. Methods: To identify proteins characteristic for fibroblasts in colorectal cancer we used liquid chromatography-tandem mass spectrometry to derive protein abundance from whole-tissue homogenates of human colorectal cancer/normal mucosa pairs. Alterations of protein levels were determined by two-sided t test with greater than threefold difference and an FDR of < 0...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/29122754/limited-role-of-kininogen-in-the-host-response-during-gram-negative-pneumonia-derived-sepsis
#16
Chao Ding, Cornelis Van't Veer, Joris J T H Roelofs, Meenal Shukla, Keith R McCrae, Alexey S Revenko, Jeff Crosby, Tom van der Poll
High molecular weight kininogen (HK), together with Factor XI, Factor XII and prekallikrein, is part of the contact system, which has proinflammatory, prothrombotic and vasoactive properties. We hypothesized that HK plays a role in the host response during pneumonia derived sepsis. To this end mice were depleted of kininogen (KNG) to plasma HK levels of 28% of normal by repeated treatment with a specific antisense oligonucleotide (KNG ASO) for three weeks prior to infection with the common human sepsis pathogen Klebsiella pneumoniae via the airways...
November 9, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29091393/a-positively-charged-surface-triggers-coagulation-activation-through-factor-vii-activating-protease-fsap
#17
Claudia Sperling, Manfred F Maitz, Simona Grasso, Carsten Werner, Sandip Kanse
Contact between biomedical materials and blood often initiates undesirable pro-coagulant and pro-inflammatory processes. On negatively charged materials blood coagulation is known to be triggered through auto-activation of Factor XII, while activation on cationic surfaces follows a distinct and so far enigmatic mechanism. As Factor VII activating protease (FSAP), is known to be activated on positively and on negatively charged macromolecules in plasma, we have investigated its interaction with charged biomaterials and its consequences for coagulation...
November 1, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29075790/differential-contribution-of-tissue-factor-and-factor%C3%A2-xii-to-thrombin-generation-triggered-by-breast-and-pancreatic-cancer-cells
#18
Aurélie Rousseau, Annette K Larsen, Patrick Van Dreden, Michele Sabbah, Ismail Elalamy, Grigoris T Gerotziafas
Most cancer cells trigger thrombin generation (TG) to various extent. In the present study, we dissected the mechanisms responsible for the procoagulant activity of pancreatic adenocarcinoma cells (BXPC3), a highly thrombogenic cancer type, and breast cancer cells (MCF7), a less thombogenic tumor type. TG of normal plasma was assessed by the Thrombinoscope (CAT®) in the presence or absence of cancer cells. TG was also assessed in plasma depleted of clotting factors, in plasma spiked with tissue factor (TF) and/or procoagulant phospholipids, in plasma spiked with an anti-TF monoclonal antibody or with corn trypsin inhibitor (CTI)...
October 20, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/29072555/streptococcus-gallolyticus-subsp-gallolyticus-endocarditis-isolate-interferes-with-coagulation-and-activates-the-contact-system
#19
Julia Isenring, Juliane Köhler, Masanobu Nakata, Marcus Frank, Christoph Jans, Pierre Renault, Camille Danne, Shaynoor Dramsi, Bernd Kreikemeyer, Sonja Oehmcke-Hecht
Streptococcus gallolyticus subsp. gallolyticus, formerly classified as S. bovis biotype I, is an increasing cause of bacteremia and infective endocarditis in the elderly. The physiopathology of infective endocarditis is poorly understood and involves immune and coagulation systems. In this study, we found that S. gallolyticus subsp. gallolyticus activates the human contact system, which in turn has two consequences: cleavage of high-molecular-weight kininogen (HK) resulting in release of the potent pro-inflammatory peptide bradykinin, and initiation of the intrinsic pathway of coagulation...
October 26, 2017: Virulence
https://www.readbyqxmd.com/read/29053871/cellular-and-morphological-characterization-of-blastoderms-from-freshly-laid-broiler-eggs
#20
N Pokhrel, E Ben-Tal Cohen, O Genin, D Sela-Donenfeld, Y Cinnamon
The pioneering study of Eyal-Giladi and Kochav (EG&K; Eyal-Giladi and Kochav, 1976) on the early developmental stages-from fertilization, through oviposition, to the gastrulation process-set the standard for characterizing chicken embryos, and has been used in numerous studies over the years. During uterine development, the chicken embryo undergoes dramatic changes, extremely rapid cell cycles, massive cell death, and axial determination processes. However, once the egg is laid, the temperature drops and the embryo enters into a diapause-like state...
October 5, 2017: Poultry Science
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