ABSTRACT
Objective To screen the disease-causing genes in an autosomal dominant (AD)Weill-Marchesani syndrome (WMS) family from Henan province in China,and to analyze the relationship between genotypes and phenotypes of the AD WMS.Methods A family with suspected WMS was collected and studied in Henan Eye Hospital from September 2016 to July 2017.Clinical data and genomic DNA of the families were analyzed and genetic variations were screened by whole-exome sequencing (WES) The candidate genes related to ectopia lentis (FBN1,ADAMTSL2,ADAMTSL4,TGFBR2,CBS,ADAMTS10,ADAMTS17) were analyzed,and multiplex ligation dependent probe amplification (MLPA) was applied.Novel variants were further evaluated by sequencing 96 normal individuals.The previous reports with similar genetic characteristics were reviewed and the mutation types and clinical features were summarized.Written informed consent was obtained from the participants or their guardians before the collection of their venous blood and clinical data.Ethical approval was obtained from the Institutional Review Board of Henan Eye Institute.Results The suspicious mutation of the c.5260G＞A was detected in exon 42 of the FBN1 by WES in this family,which was predicted to be pathogenic and cosegregated with the disease;the clinical futures of the patients in the family included proportionate short stature,brachydactyly,joint stiffness,and the ocular problems included microspherophakia,moderate myopia,secondary glaucoma.Four mutations of FBN1 that related to WMS were reported in previous literature,and three of them were located in 41-42 exons and the others were the deletion of exons 9-11.All patients had typical clinical features of microspherophakia,short stature,brachydactyly,joint stiffness.In addition,thick skin was common,heart defects were occasional,protuberant abdomen and umbilical hernia were rarely reported.Conclusions The affected members in this family are in according with the clinical and genetic diagnosis of WMS.A novel mutation (c.5260G＞A) in FBN1 is discovered,which increases the spectrum of WMS mutation.The 41-42 exons of the FBN1 are hotspot of mutation in WMS.
ABSTRACT
Objective To introduce a method of automatically identifying critical values from medical image examination reports and prompt the physician to report it,to prevent the omission of the critical value reporting and improve the medical quality.Methods According to the requirement of critical value reporting system,regular expressions were made for each emergency situation of medical image examination,in order to form a critical value feature library.And an algorithm was designed to find critical value and prompt doctors automatically.Results According to this method,the critical value auto recognize software was developed and had been tested in Nanfang Hospital for 6 months.The software ran well.Conclusion Using regular expressions to define a criteria value feature library and design an algorithm of identifying criteria values,can recognize critical values and prompt physician automatically.
ABSTRACT
Objective To resolve the problem of sharing and storing medical images and diagnostic reports among different hospitals and to help primary health care institutions to obtain the technical supports from a major hospital in a large city for the improvement of medical imaging diagnosis.Methods The paper utilizes the existing parallel and distributed technology of cloud computing and the cloud storage virtualization to design a regional image service platform,which provides computing,storage and software services to users.In addition,the design of medical image flie accessing system (MIFAS) further raise the performance of storage and access for medical image.Results The trial results showed that the medical image file accessing system had run in the actual hospital environmental for a few months with stable and good application effect.Conclusion The proposed system can improve the stability and reliability of medical imaging storage,transmission and further improve the level of medical imaging diagnosis in primary health care institutions.