ObjectiveTo evaluate the efficacy of the high-flux dialysis on maintaining hemodialysis patients. Methods60 hemodialysis patients were randomly divided into the ordinary PMMA membrane dialyzer group,the ordinary polysulfone membrane dialyzer group and the high-flux dialyzer group with 20 patients in each group.Before and after the single hemodialysis,the removing effect of serum β2- microglobulin (β2-MG)in the 3 kinds of dialyzer,and cholesterol,triglyceride,low density lipoprotein changes after 6 months were compared. ResultsThe ordinary PMMA membrane dialyzer group and high-flux dialyzer group can reduce the concentration of β2-MG,while the high-flux dialyzer group showed more significant effect.On the aspect of lipid metabolism,in the high-flux dialyzer group,serum total cholesterol,triglycerides and LDL levels decreased significantly,while the ordinary dialysis group had no significant change. ConclusionsThe high-flux dialysis can improve the dialysis efficiency,life quality and reduce the complications of patients.

Asia ; Congresses as Topic ; Humans ; Pediatrics

OBJECTIVE: To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs). METHODS: The clinical information of 182 probands affected with IRDs was collected, including their family history and the ophthalmic examination results. Blood samples of all probands and their relatives were collected and genomic DNA was extracted by standard protocols. The first 91 cases were subjected to the WES and the other 91 cases were subjected to a specific hereditary eye disease enrichment panel (HEDEP) designed by us. All likely pathogenic and pathogenic variants in the candidate genes were determined by Sanger sequencing and co-segregation analyses were performed in available family members. Copy number variations (CNVs) detected by HEDEP were further validated by multiplex ligation-dependent probe amplification (MLPA). As PRGR ORF15 was difficult to capture by next generation sequencing (NGS), all the samples were subjected to Sanger sequencing for this region. All sequence changes identified by NGS were classified according to the American College of Medical Gene-tics and Genomics and the Association for Molecular Pathology (ACMG/AMP) variant interpretation guidelines. In this study, only variants identified as pathogenic or likely pathogenic were included, while those variants of uncertain significance, likely benign or benign were not included. RESULTS: In 91 cases with WES, pathogenic or likely pathogenic variants were determined in 30 cases, obtaining a detection rate of 33.00% (30/91); While in 91 cases with HEDEP sequencing, pathogenic or likely pathogenic variants were determined in 51 cases, achieving the diagnostic rate of 56.04% (51/91), and totally, the diagnostic rate was 44.51%. HEDEP had better sequencing coverage and read depth than WES, therefore HEDEP had higher detection rate. In addition, HEDEP could detect CNVs. In this study, we detected disease-causing variants in 29 distinct IRD-associated genes, USH2A, ABCA4 and RPGR were the three most common disease-causing genes, and the frequency of these genes in Chinese IRDs population was 11.54% (21/182), 6.59% (12/182) and 3.85% (7/182), respectively. We found 43 novel variants and 6 cases carried variants in RPGR ORF15. CONCLUSION NGS in conjunction with Sanger sequencing offers a reliable and effective approach for the genetic diagnosis of IRDs, and after evaluating the pros and cons of the two sequencing methods, we conclude that HEDEP should be used as a first-tier test for IRDs patients, WES can be used as a supplementary molecular diagnostic method due to its merit of detecting novel IRD-associated genes if HEDEP or other methods could not detect disease-causing va-riants in reported genes. In addition, our results enriched the mutational spectra of IRDs genes, and our methods paves the way of genetic counselling, family planning and up-coming gene-based therapies for these families.
DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Retinal Dystrophies/genetics* ; Whole Exome Sequencing

Animals ; Central Nervous System ; radiation effects ; Humans ; Mice ; Microwaves ; Rats

Objective: Maxillary and mandible fractures are severe intermaxillary injuries,frequently involving other vital organs,and usually difficult to be treated.This study discusses the treatment of maxillary and mandible fractures.Methods: We retrospectively analyzed the clinical data of 39 cases of maxillary fractures and/or mandible fractures.Results: Of the 39 cases,34 males,5 females and 84.64% aged from 20 to 50,87.17% were caused by vehicle accidents,and 94.87% were accompanied by injuries of other parts of the body.After surgical treatment,78.95% gained normal or basically normal ocular esthetic results and 68% achieved good or improved facial esthetic results.Conclusion: The results of treatment are closely related with the type and severity of fracture and the time and plan of treatment.Preoperative CT scanning and facial profile three-dimensional reconstruction are necessitated for a thorough evaluation of the fractures and an analysis of the causes and extent of facial and ocular changes.The best treatment plan for maxillary and/or mandible fractures would include anatomic reduction by surgery,intermaxillary elastic traction and rigid internal fixation with the Ti plate.

Objective To observe the influence of diabetes mellitus or insulin on fluctuations of serum potassium in patients with maintenance hemodialysis.Methods 52 cases of hemodialysis patients,including 30 non-diabetes patients,11 patients with diabetes but not using insulin,11 diabetes patients using insulin.At the time of 0,24,48 h during dialysis,we collected serum samples from the 52 patients,serum potassium was compared among the three groups.Results On 0,24,48 h,serum potassium level of the diabetes but not using insulin group had no significant difference with the non-diabetes group.While in diabetes using insulin group,serum potassium level was lower compared with the non-diabetes group or diabetes not using insulin group.Conclusions Diabetes itself had no effect on serum potassium fluctuations of maintenance hemodialysis (MHD) patients,however,insulin can reduce the pre-dialysis serum potassium levels of MHD patients.

Objective To observe the effect of continued nursing on the long-term nasal feeding to elderly patients after discharge.Methods Toally 60 elderly discharged patients between January 2014 to December 2014 were evenly divided into observation and control groups with radom digit table the control group received routine nursing before discharge and after it and the observation group received continued nursing.The two groups were compared in terms of nasal feeding-induced complication,nursing satisfaction,care capability of patients' caregivers.Result The complication rate in the observation group was significantly lower,the nursing satisfaction was significantly higher and the care capability of caregivers were significantly better as compared to those of the control group (P ＜0.05).Conclusion Continued nursing can improve nursing satisfaction,train the care capacity of caregivers,reduce the complications for the old patients who need long-term nasal feeding after discharge.

Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy(X-ALD) patients and 2 cases of their mothers.Methods Of 5 patients with X-ALD,10 exons and flanking intronic sequences of ABCD1 gene were amplified by polyme-rase chain reaction,and then sequenced directly.The outcomes were compared with normal ABCD1 sequencings to identify the mutation type and site.Thirty normal men were examined in the mean time as control for the confirmation of mutations and gene polymorphisms.Results Three patients showed ABCD1 gene mutations,1 had a point mutation in exon 6,Arg518Gly(CGG→GGG);2 patients showed the same novel mutation in exon 1 with 8 bases deletion(134del8).Four gene polymorphisms were identified in exon 7.They were Gly551X(GGC→GGT),Arg554His(CGT→CAT),Gln567Arg(CAA→CGA) and Val582Ile(GTC→ATC).ABCD1 gene mutation was not found in 2 mothers from 2 unrelated fa-milies with X-ALD.Conclusions Three cases of 5 were detected for ABCD1 gene mutations.Between them,the 134del8 mutation is a novel one.Four new gene polymorphisms were detected in exon 7 in normal Chinese people,which were Gly551X,Arg554His,Gln567Arg and Val582Ile.

Objective To investigate the pathological diagnosis of high-grade intraepithelial neoplasia in gastric biopsy.MethodsOne hundred and forty-three cases diagnosed by gastric biopsy as high-grade intraepithelial neoplasia were analyzed by light microscopy,and were compared with the pathological findings of surgical specimens in 60 cases and a second biopsy in 13 cases.Results Among the sixty cases treated surgically following the gastric biopsies,no carcinoma was found in 6,while the other 54 were diagnosed as gastric adenocarcinoma,27 in advanced stage and 27 in early stage,respectively.Fifteen cases were well-differentiated,24 moderately-differentiated,12 poorly-differentiated and 3 were of mucinous type.Four of the 13 cases with a second biopsy were diagnosed as well-differentiated adenocarcinoma,8 low-grade intraepithelial neoplasia and 1 chronic inflammation.The colorectal adenomas-like changes were morphologically found in 6 surgically-treated cases without carcinoma,5 of whom mucous muscles were not found by biopsy.Fibroblastic reactions were found in 9 cases,all of which were diagnosed as adenocarcinoma in surgical specimens.Conclusion Ninety percent of the cases who are diagnosed as high-grade intraepithelial neoplasia by biopsy may have already been complicated with adenocarcinoma.The location and depth of the specimen in gastric biopsy have a considerable influence on pathological diagnosis.The fibroblastic reaction may be considered as an important marker for gastric adenocarcinoma in pathological diagnosis of gastric biopsy.

Objective To investigate the value of thyroid transcription factor-1(TTF-1) in the diagnosis and biological behavior assessment of hepatocellular carcinoma (HCC). Methods Thirty liver specimens obtained from benign lesions were analysed, among which 25 were hepatic cirrhosis and inflammatory diseases, and the other 5 were adenomas. And there were 176 specimens of liver tumors, among which 142 were HCC (well differentiated, n=12; moderately differentiated, n=57; poorly differentiated, n=73), 17 were intrahepatic cholangiocellular carcinoma (ICC) and the other 17 were liver metastatic carcinoma (MC). The expression of TTF-1 was examined immunohistochemically in the above tissues, and the difference in expression of TTF-1 among different tissues was examined by Fisher's exact test, Kruskal-Wallis test and Spearman rank correlation analysis. Results TTF-1 was significantly expressed in the cytoplasms of all the hepatocytes besides tumors and liver benign lesions. The expression rate of TTF-1 in HCC was 78.9% (112/142), however, TTF-1 was negatively expressed in ICC and MC(P