Dataset Information

Extension of the Human Fibrinogen Database with Detailed Clinical Information-The αC-Connector Segment.

ABSTRACT: Fibrinogen, an abundant plasma glycoprotein, is involved in the final stage of blood coagulation. Decreased fibrinogen levels, which may be caused by mutations, are manifested mainly in bleeding and thrombotic disorders. Clinically relevant mutations of fibrinogen are listed in the Human Fibrinogen Database. For the αC-connector (amino acids Aα240-410, nascent chain numbering), we have extended this database, with detailed descriptions of the clinical manifestations among members of reported families. This includes the specification of bleeding and thrombotic events and results of coagulation assays. Where available, the impact of a mutation on clotting and fibrinolysis is reported. The collected data show that the Human Fibrinogen Database reports considerably fewer missense and synonymous mutations than the general COSMIC and dbSNP databases. Homozygous nonsense or frameshift mutations in the αC-connector are responsible for most clinically relevant symptoms, while heterozygous mutations are often asymptomatic. Symptomatic subjects suffer from bleeding and, less frequently, from thrombotic events. Miscarriages within the first trimester and prolonged wound healing were reported in a few subjects. All mutations inducing thrombotic phenotypes are located at the identical positions within the consensus sequence of the tandem repeats.

SUBMITTER: Sovova Z

PROVIDER: S-EPMC8745514 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ObjectivesConsidering that there is a lack of evidence regarding the contribution of library and information services to evidence-based medicine in actual clinical practice in Japan, the purpose of the study is to explore the current status of use and value of library and information services in clinical settings to examine the usefulness of information in implementing evidence-based medicine (EBM) into practice.MethodsA Web-based survey was conducted at seven sites (hospitals with 300-1,200 beds) and interviews conducted at five sites to investigate information behavior among health professionals (physicians, residents, and nurses) in 2016, replicating the Value Study carried out in the United States in 2010 and 2011. Using a critical incident technique, respondents answered questions about their information topics, information resources used, search location, access points, and evaluation of the information.ResultsAnalysis from 598 valid responses (275 physicians, 55 residents, and 268 nurses) revealed the characteristics of information use and recognition of the value of information. Physicians and residents showed their information needs regarding clinical care using PubMed (80.4%, 65.5%), Ichushi-Web (61.8%, 63.6%), and UpToDate (40.4%, 65.5%). While physicians rely more on electronic journals (37.8%), residents use more hybrid resources including Japanese print books (38.2%) and online books (30.9% for Japanese, 32.7% for English) to confirm their knowledge. Nurses need more information close to patients and explore a wider variety of information resources such as Japanese print books (60.4%), Ichushi -Web (40.3%), Japanese online books (20.5%), and websites of academic organizations (19.0%). Although the overall recognition of the value of information was relatively modest, concrete changes in clinical practice were found in some areas. Environments with insufficient information and availability of electronic resources should be improved to increase the use of library and information services for implementing EBM.

Dataset Information

Extension of the Human Fibrinogen Database with Detailed Clinical Information-The αC-Connector Segment.

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