Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.

Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family. Acta Haematol. 2020 Jan 24;:1-6 Authors: Peng Y, Nie L, Qin C, Wan L, Zhou P Abstract Both congenital hypodysfibrinogenemia and factor XI deficiency are rare coagulopathies caused by mutations within the fibrinogen and F11 genes, respectively. To investigate the pathogenesis of combined congenital hypodysfibrinogenemia with factor XI (FXI) deficiency in a Chinese family, coagulation assays, FXI activity (the 1-stage method), fibrinogen activity (the Clauss method), and antigen (prothrombin time [PT]-derived method) were performed. The sequences of fibrinogen genes and F11 were amplified by PCR and analyzed by direct sequencing. The proband as well as his grandmother, father, aunt, and sister showed a low plasma concentration of fibrinogen measured by the Clauss method and a slightly decreased result by the PT-derived method; finally, c.1097A>G in exon 8 of FGG was detected in the pedigree, which caused His340Arg mutation. His grandfather had a slightly prolonged activated partial thromboplastin time (APTT) due to low FXI activity. FXI deficiency was a compound heterozygote inherited with missense mutations of c.434A>G in exon 5 as well as c.1253G>T in exon 11 which caused HGV p.His145Arg and Gly400Val mutations, respectively. The grandfather had no qualitative or quantitative defect in fibrinogen. The proband and his father and aunt had c.434A>G at the exon ...
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research

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Conditions:   Post-polypectomy Bleeding;   Bowel Preparation;   Urgent Colonoscopy Intervention:   Behavioral: Bowel preparation Sponsor:   Ningbo No. 1 Hospital Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research
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Source: Revista Espanola de Cirugia Oral y Maxilofacial - Category: ENT & OMF Source Type: research
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Source: Clinical Oral Investigations - Category: Dentistry Source Type: research
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Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: INTERVENTIONAL Source Type: research
AbstractOver the last years, direct oral anticoagulants (DOACs) have radically changed and simplified the therapeutic approach and management of patients on anticoagulant therapy. For these patients, international guidelines recommend to set up a regular follow-up (every 1 –6 months) to re-enforce education, to ensure adequate adherence and persistence to treatment. In real-life setting, the application of the suggested follow-up regimens and incidence rates of thrombotic and bleeding complications related to the intensity of follow-up strategies has not been descr ibed. We conducted a multicentre, retrospective...
Source: Internal and Emergency Medicine - Category: Emergency Medicine Source Type: research
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Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
CONCLUSION: The strategy of preemptive ESD and surgery for synchronous colorectal neoplasms is minimally invasive and has a favorable prognosis. PMID: 32650680 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
Authors: Gu Y, Yao Q, Xu Y, Zhang H, Wei P, Wang L Abstract BACKGROUND This was a prospective comparative study of mixed reality (MR) technology assisted lumbar pedicle screws placement and traditional lumbar pedicle screws placement. MATERIAL AND METHODS Fifty cases of lumbar pedicle screws placement were randomly divided into 2 groups: 25 cases with MR technology in group A, and 25 cases without MR technology in group B. All patients had their scores on the Oswestry disability index (ODI) of low back pain and the visual analog scale (VAS) of the affected lower limb recorded at pre-operation. Blood loss, operative...
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
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