Asia ; Congresses as Topic ; Humans ; Pediatrics

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.

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

Child ; Humans ; Puberty, Precocious ; diagnosis ; therapy

Adaptive Immunity ; Animals ; Humans ; Periodontitis ; immunology

Human kerotinocyte growth factor (hKGF) gene amplified by PCR was inserted into the shuttle vector pAdTrack-CMV to get the recombinant plasmid pAdTrack-CMV-hKGF, which was linearized with Pme I and transferred into Escherichia coli BJ5183 containing the adenoviral bone plasmid pAdEasy-1 to obtain the recombinant adenoviral plasmid pAdEasy-hKGF. The recombinant adenoviral plasmid was then transfected into HEK-293 cell lines via Lipofectamine 2000 to package and amplify the recombinant adenovirus containing hKGF gene detected by PCR. The recombinant adenovirus produced could effectively infect HaCat cells. The result of Western blotting showed that HaCat cells infected with the recombinant adenovirus expressed and secreted hKGF protein.

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 study the clinical therapeutic effect of acupuncture in the treatment of depressive neurosis.Methods The 60 selected patients of depressive neurosis were randomized into treatment group(acupuncture regulating the liver group)and con- trol group(near-by sham-point acupuncture group),with 30 in each.The scores of Symptom Checklist 90(SCL-90),Self-rating De- pression Scale(SDS),and Hamilton Depression Scale(HAMD),and the total effective rate after treatment were observed.Results The total effective rate of the treatment group and the control group was 92.6% and 56.0% respectively,and the difference was sig- nificant(P

Insulin receptor substrate(IRS)-1 and IRS-2 expression levels of liver tissues and skeletal muscle in intrauterine growth retarded(IUGR)rats were investigated by RT-PCR and immunohistochemistry.An IUGR animal model was established by maternal nutrition restriction during pregnancy.IRS-2 expression level of liver tissue and IRS-1 expression level of skeletal muscle in IUGR rats at 0 and 3 weeks old were significantly lower than those in normal rats at the same age respectively,and insulin resistance was induced in IUGR,and these findings might be the molecular mechanisms susceptible to metabolic syndrome in IUGR rats.

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.