Objective To compare the clinic effects of suspension and pillow elevation on limb swelling after elbow surgery. Methods One hundred patients receiving operations on elbow fracture were randomly divided into experiment group(suspension elevation)and the control group(pillow elevation)to eliminate limb swelling,50 cases in each group.The forearm circumference(10 cm below elbow)were measured 1-5d after operation,the circumferences on the first day and the fifth day recorded for comparing effects of the limb swelling elimination.Results The circumferences on the 1st day and 5th day of the suspension elevation group and the pillow elevation group were(2?53±0?76)cm,and(4?19±2?36)cm,respectively.The differences in circumference between the two groups were statistically significant(P<0?05).Conclusion The suspension elevation is more effective in promoting venous circulation and eliminating swelling,so it is conducive for the elbow fracture patients in early functional exercise?

Objective Gitelman Syndrome is a disease caused by the mutation of Na-Cl cotransporter gene(SLC12A3).The article studied the significance of diagnosis and identification by genetic mutation. Methods We collected the clinical data, then we sequenced the SLC12A3 gene by the first sequencing technology and MLPA. Results SLC12A3 complicated heterozygotic mutation was observed.One of them showed c.1964G>A, p.(Arg655His) and exon 8 deletion mutation, the other showed c.2543A>T, p.(Asp848Val) and c.976delG, p.(Val326fs) mutation of SLC12A3 gene in children. Conclusion The final diagnosis depended on gene diagnosis. Pediatrician must recognize the manifestations to advoid misdiagnosis.

OBJECTIVETo review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.

METHODSClinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.

RESULTSTwo patients have manifested macrocephaly. Imaging analysis revealed arachnoid cyst and subdural effusion. The elder sister had encephalopathy crisis. The younger sister had significantly raised glutaric acid, whilst the elder sister was normal during the non-acute phase. Genetic analysis has revealed a homozygous c.1244-2A> C mutation of the GCDH gene in both patients.

CONCLUSIONThe clinical features and mutation of the GCDH gene have been delineated in a Chinese family affected with GA-1. The c.1244-2A> C mutation may be particularly common in the Chinese population.

Adolescent ; Amino Acid Metabolism, Inborn Errors ; diagnostic imaging ; enzymology ; genetics ; Base Sequence ; Brain Diseases, Metabolic ; diagnostic imaging ; enzymology ; genetics ; China ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Homozygote ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography

OBJECTIVETo delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.

METHODSClinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene.

RESULTSThe patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were noted. Cranial magnetic resonance imaging and angiography revealed cortical atrophy, leukoencephalopathy and circuitous of intracranial vessels. The plasma ceruloplasmin was decreased. MLPA has identified a deletion spanning exons 8 to 12 of the ATP7A gene. His mother was found to be a heterozygous carrier of the same mutation.

CONCLUSIONThe clinical features and a novel mutation of the ATP7A gene of the family have been delineated.

Adenosine Triphosphatases ; genetics ; Adult ; Asian Continental Ancestry Group ; genetics ; Cation Transport Proteins ; genetics ; China ; Copper-transporting ATPases ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome ; genetics ; Mutation ; Pedigree

OBJECTIVE: To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes. METHODS: Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing. RESULTS: The clinical manifestation of the patients varied from macrocephaly to severe encephalopathy, with notable phenotypic difference between siblings carrying the same variation. In pedigrees 1 and 2, the probands have carried compound heterozygous variations c.1133C>T(p.Ala378Val) and c.1244-2A>C, which were derived their fathers and mothers, respectively. In pedigree 3, the proband has carried compound heterozygous variation c.339delT (p.Tyr113) and c.406G>T (p.Gly136Cys). Among these, variations c.339delT and c.1133C>T were verified as novel by retrieval of dsSNP, HGMD and 1000 genome database. Bioinformatic analysis suggested that above variations can affect protein function and are probably pathogenic. CONCLUSION Above discovery has expanded the mutation spectrum of the GCDH gene. No correlation was found between the clinical phenotype and genotype of GA-1 patients.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Brain Diseases, Metabolic ; diagnosis ; genetics ; China ; DNA Mutational Analysis ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Humans ; Mutation

Objective:The paper aims to investigate the current situation and influencing factors of clinical research data sharing of gastroenterology collaboration network of Beijing municipal hospitals so as to provide reference basis for establishing data sharing mode of collaboration center.Methods:A total of 13 gastroenterology department of Beijing municipal hospital collaboration network units enrolled the research. Each department selected 10-15 clinicians for a questionnaire survey. A total of 157 valid questionnaires were collected.Results:The awareness rate of public data platform(realized at least one) is 81.5%. The rate of browsing public data platform is 65.6%. The rate of downloading and uploading rare data are 13.4% and 1.3%, respectively. As the level of professional titles increases, the proportion of clinicians realizing and downloading raw data has increased significantly( P<0.05). In this survey, 31.3% clinicians used the sharing data from other hospitals within the research group and 53.5% clinicians indicated that there is the data sharing platform based on hospital information system within their hospital/department. The rate of willing to share clinical data is 73.3%. However, a majority of clinicians are inclined to accept the sharing within the research group/hospital, and they prefer to share their data when their papers or research results are published. Data storage is mainly numerical and text structured data. Sharing risk, sharing platform, sharing system and data itself are the top four factors affecting data sharing. Conclusions:Relevant departments should strive to establish sharing mechanism, build sharing platforms, refine the sharing access qualification and improve the sharing awareness of medical personnel so as to lay a necessary foundation for further open sharing of big data on digestive diseases.

In clinic, intima and media thickness are the main indicators for evaluating the development of atherosclerosis. At present, these indicators are measured by professional doctors manually marking the boundaries of the inner and media on B-mode images, which is complicated, time-consuming and affected by many artificial factors. A grayscale threshold method based on Gaussian Mixture Model (GMM) clustering is therefore proposed to detect the intima and media thickness in carotid arteries from B-mode images in this paper. Firstly, the B-mode images are clustered based on the GMM, and the boundary between the intima and media of the vessel wall is then detected by the gray threshold method, and finally the thickness of the two is measured. Compared with the measurement technique using the gray threshold method directly, the clustering of B-mode images of carotid artery solves the problem of gray boundary blurring of inner and middle membrane, thereby improving the stability and detection accuracy of the gray threshold method. In the clinical trials of 120 healthy carotid arteries, means of 4 manual measurements obtained by two experts are used as reference values. Experimental results show that the normalized root mean square errors (NRMSEs) of the estimated intima and media thickness after GMM clustering were 0.104 7 ± 0.076 2 and 0.097 4 ± 0.068 3, respectively. Compared with the results of the direct gray threshold estimation, means of NRMSEs are reduced by 19.6% and 22.4%, respectively, which indicates that the proposed method has higher measurement accuracy. The standard deviations are reduced by 17.0% and 21.7%, respectively, which indicates that the proposed method has better stability. In summary, this method is helpful for early diagnosis and monitoring of vascular diseases, such as atherosclerosis.
Carotid Arteries/diagnostic imaging* ; Carotid Intima-Media Thickness ; Normal Distribution ; Ultrasonography