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1.
Chinese Journal of Medical Genetics ; (6): 38-41, 2024.
Article in Chinese | WPRIM | ID: wpr-1009350

ABSTRACT

OBJECTIVE@#To obtain skin-derived induced pluripotent stem cells (iPSCs) from an Osteogenesis imperfecta (OI) patient carrying WNT1c.677C>T mutation in order to provide a new cell model for investigating the underlying molecular mechanism and stem cell therapy for OI.@*METHODS@#The pathogenic variant of the patient was identified by Sanger sequencing. With informed consent from the patient, skin tissue was biopsied, and primary skin fibroblasts were cultured. Skin fibroblasts were induced into iPSCs using Sendai virus-mediated non-genomic integration reprogramming method. The iPSC cell lines were characterized for pluripotency, differentiation capacity, and karyotyping assay.@*RESULTS@#The patient was found to carry homozygous missense c.677C>T (p.Ser226Leu) mutation of the WNT1 gene. The established iPSC lines possessed self-renewal and capacity for in vitro differentiation. It also has a diploid karyotype (46,XX).@*CONCLUSION@#A patient-specific WNT1 gene mutation (WNT1c.677C>T) iPSC line was established, which can provide a cell model for the study of OI caused by the mutation.


Subject(s)
Humans , Induced Pluripotent Stem Cells/pathology , Osteogenesis Imperfecta/genetics , Mutation , Cell Differentiation/genetics , Cell Line
2.
Chinese Journal of Medical Genetics ; (6): 186-190, 2023.
Article in Chinese | WPRIM | ID: wpr-970902

ABSTRACT

OBJECTIVE@#To explore the genetic basis for three Chinese patients with McCune-Albright syndrome (MAS).@*METHODS@#Three children who had respectively presented at Shandong Provincial Hospital in April 2019 and Peking Union Medical College Hospital in August 2020 and May 2021 were selected as the research subjects. Peripheral blood samples of the probands and their family members were taken for the extraction of genomic DNA. Potential variants were screened by whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing of the patients and their family members.@*RESULTS@#The proband from family 1 was found to harbor a heterozygous c.601C>T (p.R201C) missense variant in exon 8 of the GNAS gene, whilst the probands from families 2 and 3 were both found to harbor a heterozygous c.602G>A (p.R201H) missense variant in exon 8 of the GNAS gene. Both variants were known to be pathogenic, and all probands were found to be mosaics for the corresponding variants but with various degrees.@*CONSLUSION@#WES can effectively diagnose MAS and other somatic genetic disorders. In this study, the combined WES and Sanger sequencing have verified the degree of mosaicisms of pathogenic variants in the three MAS patients, albeit no apparent correlation was found between the degree of mosaicisms and the phenotype of patients. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the affected families.


Subject(s)
Humans , Mutation , Fibrous Dysplasia, Polyostotic/genetics , East Asian People , Exons , Phenotype , Pedigree
3.
Chinese Journal of Medical Genetics ; (6): 1350-1355, 2023.
Article in Chinese | WPRIM | ID: wpr-1009302

ABSTRACT

OBJECTIVE@#To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD).@*METHODS@#With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was analyzed using bioinformatic software VarCards, and the impact of the variants on the protein structure was predicted with Swiss-Pdb-viewer.@*RESULTS@#Both fetuses were found to harbor compound heterozygous variants of the DYNC2H1 gene, including c.515C>A (p.Pro172Gln) and c.5983G>A (p.Ala1995Thr) in fetus 1, and c.5920G>T (pGly1974) and c.9908T>C (p.He3303Thr) in fetus 2. The parents of both fetuses were heterozygous carriers.@*CONCLUSION@#The compound heterozygous variants of the DYNC2H1 gene probably underlay the SRTD3 in the two fetuses.


Subject(s)
Humans , Fetus , Chloroform , Computational Biology , Ethnicity , Ribs
4.
Chinese Journal of Geriatrics ; (12): 291-296, 2023.
Article in Chinese | WPRIM | ID: wpr-993810

ABSTRACT

Objective:To investigate the effect of Edaravone and dexborneol(Eda.B)on oxidative stress pathway in peripheral blood of elderly patients with acute ischemic stroke.Methods:A total of 87 elderly patients with acute ischemic stroke in the Department of Neurology, Qinghai University Affiliated Hospital from July 2021 to January 2022 were selected as the study subjects.According to the random number table, they were divided into control group(44 cases)and edaravone dexborneol group(43 cases). Each group was divided into <12 h group, 12-24 h group and 24-48 h group according to the time of onset.Peripheral blood was collected in each group at admission and discharge, respectively.The serum levels of reactive oxygen species(ROS), Kelch-like epichlorohydrin-associated protein 1(Keap1), nuclear factor-E2-associated factor 2(Nrf2), heme oxygenase-1(HO-1), NAD(P)H quinone oxidoreductase 1(NQO1), tumor necrosis factor-α(TNF-α)and interleukin-6(IL-6), as well as superoxide dismutase(SOD)activity and malondialdehyde(MDA)content were detected.Results:Elderly patients with acute ischemic stroke receving Eda.B treatment after admission could reduce the serum concentration of ROS, TNF-α and IL-6, as well as MDA content, and increase the concentration of Keap1, Nrf2, HO-1 and NQO1 and SOD activity.Except for ROS concentration in <12 h group and SOD activity in <12 h and 12 h-24 h groups, the differences between the other groups were statistically significant( P<0.05 for all). Compared with the control group, the serum concentration of TNF-α and IL-6 of patients in the Eda.B group at discharge decreased, while the concentration of Nrf2(24-48 h group)and HO-1(24-48 h group), and SOD activity increased, the differences were statistically significant( P<0.05 for all). In the control group at discharge, the concentrations of ROS(24-48 h group), TNF-α(<12 h group, 24-48 h group)and IL-6, as well as MDA content decreased, while the concentrations of Keap1, Nrf2(<12 h group, 12-24 h group)and HO-1(<12 h group, 12-24 h group)increased, the differences were also statistically significant( P<0.05 for all). Compared with admission, the concentration of Keap1(24-48 h group)and HO-1(24-48 h group), the activity of SOD(<12 h group, 12-24 h group)increased and the content of MDA(12-24 h group)in the Eda.B group decreased at discharge( P<0.05 for all). Conclusions:Eda.B can reduce oxidative stress and inflammatory response in peripheral blood of elderly patients with acute ischemic stroke by acting on the Keap1/Nrf2 pathway.

5.
Chinese Journal of Medical Genetics ; (6): 143-147, 2022.
Article in Chinese | WPRIM | ID: wpr-928377

ABSTRACT

OBJECTIVE@#To identify the causative variants in 13 Chinese pedigrees affected with oculocutaneous albinism (OCA) so as to provide genetic counseling and prenatal diagnosis to them.@*METHODS@#Thirteen unrelated pedigrees with clinically diagnosed OCA were collected and classified based on the manifestation of skin and eyes. With informed consent obtained from the participants, peripheral blood samples were collected from the probands and their family members for the extraction of genomic DNA. Candidate variants were screened by targeted capture and next generation sequencing, and the results were validated by Sanger sequencing. Prenatal diagnosis was provided to the families upon their subsequent pregnancies.@*RESULTS@#Causative variants were detected in all probands, including 10 with compound heterozygotes or homozygotes for TYR gene variants and 3 with compound heterozygotes for OCA2 gene variants. Among these, two variants [TYR: c.650G>C (p.Arg217Pro) and OCA2: c.516-2A>T] were unreported previously. The pathogenicity of the novel TYR: c.650G>C (p.Arg217Pro) variant was verified through bioinformatic analysis and prediction of three dimensional structure of the protein. Prenatal diagnosis was provided to 6 fetuses with a high risk for OCA. Four fetuses were found to be carriers, one did not carry the variants of the proband, and one was affected with OCA.@*CONCLUSION@#Identification of the pathogenic variants in the 13 probands, including 2 novel ones, has expanded the mutational spectrum of OCA and enabled genetic counseling and prenatal diagnosis for the families.


Subject(s)
Female , Humans , Pregnancy , Albinism, Oculocutaneous/genetics , China , Genetic Testing , Membrane Transport Proteins/genetics , Monophenol Monooxygenase/genetics , Mutation , Pedigree , Prenatal Diagnosis
6.
Chinese Journal of Medical Education Research ; (12): 1126-1130, 2022.
Article in Chinese | WPRIM | ID: wpr-955612

ABSTRACT

This paper expounds that the construction of a clinical teacher's teaching ability model is an urgent problem to be solved in medical colleges and universities, and analyzes that the current clinical teaching concepts and methods are constantly improving, and the clinical teaching environment is more informatized and intelligent. This paper summarizes the clinical teachers' teaching ability models at home and abroad, such as the ability and quality iceberg model, teacher growth model, inquiry-based teaching model, Molenaar three-dimensional teaching ability model, etc., and discusses the practice research progress of current clinical teacher teaching ability models such as student-centered guided teaching, bedside teaching, micro-teaching and BOPPPS (bridge-in, objective, pre-assessment, participatory-learning, post-assessment, and summary) method, medical simulation teaching, etc., hoping to provide guidance for further constructing models of teacher's teaching ability suitable for Chinese medical colleges and universities.

7.
Chinese Journal of Orthopaedics ; (12): 576-583, 2021.
Article in Chinese | WPRIM | ID: wpr-884747

ABSTRACT

Objective:To identify pathogenicity of the potential splicing variants in two Chinese Han patients with osteogenesis imperfecta.Methods:Genomic DNA was extracted using the conventional phenol-chloroform method; whole exome sequencing (WES) was used to analysis the disease-related variants in the two probands; Minigene assay was used to identify pathogenicity of the variants found in the patients' genome that possibly affect RNA splicing.Results:Two potential splicing variants, c.858+1_858+5delGTAAG in intron 12 of COL1A1 and c.1405-7C>T in intron 24 of COL1A2, were found in proband 1 and proband 2, respectively. In addition, a missense mutation, c.2972G>T (p.G991V) in exon 45 of COL1A2, was detected in proband 2. Minigene assay revealed that the variant in proband 1 caused the skipping of exon 12, while the variant in proband 2 did not lead to aberrant splicing. G199 of the COL1A2 in proband 2 was a highly conserved amino acid site, and the results suggested that c.2972G>T (p.G991V) may be the real pathogenic variant by the means of bioinformatics analysis.Conclusion:The variant c.858+1_858+5delGTAAG in COL1A1 was a causative variant that led to OI in proband 1, while the missense variant c.2972G>T (p.G991V) in COL1A2 was the cause of OI in proband 2, instead of the variant c.1405-7C>T. Minigene assay for potential splicing variants detected by WES could not only validate the pathogenicity of the candidate variants and enrich the mutation spectrum of OI, but also lay the foundation for patients' prenatal diagnosis and subsequent mechanism research.

8.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 149-160, 2020.
Article in Chinese | WPRIM | ID: wpr-817644

ABSTRACT

cloud point extraction, hydrophilic interaction chromatography, anti-AIDS drugs, serum@#【Objective】 Cloud point extraction (CPE) combined with hydrophilic interaction (HILIC) was employed to simultaneously determine the anti-AIDS drugs in the serum of rats. 【Methods】Triton X-114 was used as extraction medium to extract four nucleoside antiviral drugs from rat serum. Response surface methodology was employed to further optimize CPE parameters. The content of four anti-AIDS drugs in rat serum was simultaneously determined by HILIC method.【Results】 The optimized conditions were as follows:5%(w/v)Triton X- 114,0.3 mol/L NaCl,PH 5.0, the water- bath equilibrium 20 min at 40 ℃ . Under optimized extraction conditions,the extraction rates of the four anti- AIDS drugs were all over 85.0%,which was pretty close to the predicted result. The extracted samples were analyzed under the optimal chromatographic conditions. The recovery rate was over 75.0% and RSD was less than 5.0%. The optimized chromatographic conditions were as follows:Ze month- CN(250 × 4.6 mm,5 micron)as stationary phase,mobile phase (methanol:acetonitrile:ammonium acetate buffer)(5∶5∶90),column temperature 35 ℃,detection wavelength 275 nm,flow rate 0.5 mL/min.【Conclusion】The developed method of CPE combined with HILIC can enrich four anti-AIDS drugs in rat serum ,which is simple,environment- friendly and can be used to accurately determine the blood concentration of four anti-AIDS drugs in rat serum,providing a new method for clinical blood concentration monitoring.

9.
Chinese Journal of Medical Genetics ; (6): 985-988, 2019.
Article in Chinese | WPRIM | ID: wpr-796462

ABSTRACT

Objective@#To explore the genetic basis for a Chinese pedigree affected with pachyonychia congenita (PC).@*Methods@#With informed consent obtained, peripheral blood samples were taken from the pedigree. Genomic DNA was extracted with a phenol/chloroform method. Based on the clinical manifestation of the patients, candidate genes for PC were selected. Potential mutation was screened by PCR and Sanger sequencing. Suspected mutation was verified in other family members by PCR-high resolution melting (HRM) analysis. Haplotype analysis using microsatellite markers was also carried out to determine the founder of the mutation.@*Results@#A heterozygous c. 275A>G (Asn92Ser) mutation was discovered in exon 1 of the KRT17 gene in the proband. PCR-HRM analysis showed that all affected members were heterozygous carriers of the mutation. The same mutation was found in none of the unaffected members. Haplotype analysis and sequencing indicated the mother of the proband to be the founder.@*Conclusion@#The c. 275A>G (Asn92Ser) mutation of the KRT17 gene probably underlies the disease in this pedigree. Above finding has facilitated genetic counseling and prenatal diagnosis for this pedigree.

10.
Chinese Journal of Medical Genetics ; (6): 757-760, 2019.
Article in Chinese | WPRIM | ID: wpr-776813

ABSTRACT

OBJECTIVE@#To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME).@*METHODS@#Genomic DNA was extracted from peripheral blood samples using a phenol-chloroform method. PCR and Sanger sequencing was conducted to amplify the exons and the flanking intronic regions of the EXT1 and EXT2 genes.@*RESULTS@#DNA sequencing has revealed a heterozygous missense variation c.812A>G (p.Tyr271Cys) in the exon 1 of EXT1 in pedigree 1, and a heterozygous frameshift variation c.1431dup (p.Ser478Leufs*43) in the exon 6 of EXT1 in the proband from pedigree 2. Both variations have co-segregated with the disease phenotype, which was also consistent with previous report.@*CONCLUSION@#Two heterozygous pathogenic variations underlying HME have been identified. The result has facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.


Subject(s)
Humans , Asian People , Base Sequence , DNA Mutational Analysis , Exostoses, Multiple Hereditary , Genetics , Pathology , Frameshift Mutation , Mutation, Missense , N-Acetylglucosaminyltransferases , Genetics , Pedigree
11.
Chinese Journal of Medical Genetics ; (6): 985-988, 2019.
Article in Chinese | WPRIM | ID: wpr-776762

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with pachyonychia congenita (PC).@*METHODS@#With informed consent obtained, peripheral blood samples were taken from the pedigree. Genomic DNA was extracted with a phenol/chloroform method. Based on the clinical manifestation of the patients, candidate genes for PC were selected. Potential mutation was screened by PCR and Sanger sequencing. Suspected mutation was verified in other family members by PCR-high resolution melting (HRM) analysis. Haplotype analysis using microsatellite markers was also carried out to determine the founder of the mutation.@*RESULTS@#A heterozygous c.275A>G (Asn92Ser) mutation was discovered in exon 1 of the KRT17 gene in the proband. PCR-HRM analysis showed that all affected members were heterozygous carriers of the mutation. The same mutation was found in none of the unaffected members. Haplotype analysis and sequencing indicated the mother of the proband to be the founder.@*CONCLUSION@#The c.275A>G (Asn92Ser) mutation of the KRT17 gene probably underlies the disease in this pedigree. Above finding has facilitated genetic counseling and prenatal diagnosis for this pedigree.


Subject(s)
Humans , Asian People , Keratin-17 , Genetics , Mutation , Pachyonychia Congenita , Genetics , Pedigree , Polymerase Chain Reaction
12.
Chinese Journal of Medical Genetics ; (6): 156-159, 2018.
Article in Chinese | WPRIM | ID: wpr-687988

ABSTRACT

<p><b>OBJECTIVE</b>To detect mutation of HPGD gene among three pedigrees affected with primary hypertrophic osteoarthropathy (PHO) by DNA sequencing and high-resolution melting (HRM) analysis.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples collected from the pedigrees. PCR and direct sequencing were carried out to identify potential mutations of the HPGD gene. Amplicons containing the mutation spot were generated by nested PCR. The products were then subjected to HRM analysis using the HR-1 instrument. Direct sequencing was carried out in family members and healthy individuals to confirm the result of HRM analysis.</p><p><b>RESULTS</b>A homozygous mutation c.310_311delCT was detected in 2 affected probands, while a heterozygous mutation c.310_311delCT was detected in the third proband. HRM analysis of the fragments encompassing HPGD exon 3 showed 3 curve patterns representing three different genotypes, i.e., the wild type, the c.310_311delCT homozygote, and the c.310_311delCT heterozygote. Result of DNA sequencing was consistent with that of the HRM analysis and phenotype of the subjects.</p><p><b>CONCLUSION</b>The c.310_311delCT mutation may be the most prevalent mutation among Chinese population. HRM analysis has provided an optimized method for genetic testing of HPGD mutation for its simplicity, rapid turnover and high sensitivity.</p>


Subject(s)
Adult , Child , Female , Humans , Male , Hydroxyprostaglandin Dehydrogenases , Genetics , Mutation , Osteoarthropathy, Primary Hypertrophic , Genetics , Pedigree
13.
Chinese Journal of Medical Genetics ; (6): 9-13, 2018.
Article in Chinese | WPRIM | ID: wpr-344139

ABSTRACT

OBJECTIVE To identify potential mutations in two Chinese families affected with primary localized cutaneous amyloidosis. METHODS Peripheral blood samples of the family were collected with informed consent. Genomic DNA was extracted with a phenol chloroform method. All of the 17 exons and their flanking splicing sites of the OSMR gene were amplified with PCR and subjected to Sanger sequencing. Suspected mutations were verified with PCR - restriction fragment length polymorphism and high-resolution melting assays. RESULTS A missense mutation (c.1538G>A) was found in exon 10 of the OSMR gene in all of the six patients from family 1. A missense mutation (c.2081C>T) was found in exon 14 of the OSMR gene in all of the four patients from family 2. The same mutations were not found among the healthy controls. CONCLUSION Two missense mutations (c.1538G>A and c.2081C>T) were detected in the OSMR gene in two Chinese families affected with primary localized cutaneous amyloidosis. Our findings have further confirmed the pathogenicity of such mutations.

14.
Chinese Journal of Medical Imaging ; (12): 222-226,230, 2017.
Article in Chinese | WPRIM | ID: wpr-614595

ABSTRACT

Purpose To investigate CT and MRI manifestations of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (abbreviation as Xp11.2 translocation renal cell carcinoma).Materials and Methods Eighteen cases of Xp11.2 translocation renal cell carcinoma confirmed by pathology were retrospectively analyzed.Ten patients underwent CT scans,2 of them had unenhanced CT and 8 of them had pre-and post-contrast CT scan.Fourteen cases underwent plain and multi-phase contrast MRI scan,including 2 cases with unenhanced CT and 4 cases with pre-and post-contrast CT scan.The location,size,shape,density/signal,blood supply and the enhancement of the Xpl 1.2 translocation renal cell carcinoma were analyzed.Results All of the 18 tumors located in the corticomedullary with 17 solid lesions and 1 cystic lesion.The mean maximum diameter of the tumor was (4.6±2.0) cm.Thirteen lesions were circular or oval and 5 were irregularly or lobulated lesions.Ten lesions showed slightly high or high density on unenhanced CT,and the average CT value was (50.6± 11.5) HU,in which 4 lesions showed calcification.Among 8 cases of enhanced CT,1 lesion showed abundant blood supply,while 7 lesions showed lack of blood supply.Fourteen cases of MRI scan exhibited various imaging features with short T1 and T2 signal,and the persistent enhancement in the medullary phase.The MRI findings were further divided into 3 types according to the signal intensity and blood supply except 1 cystic lesion:① 5 lesions predominantly with short T1 and T2 signal were lack of blood supply;② 4 lesions predominantly with slightly longer T1 and T2 signal were abundant blood supply;③ 4 lesions predominantly with equal T1 and T2 signal were relatively lack of blood supply.Conclusion The CT and MRI features of Xpl 1.2 translocation renal cell carcinoma had certain manifestations:slightly high or high density nodule or mass located in corticomedullary on pre-contrast CT scan,various signal intensity with short T1 and T2 signal on MRI,and the persistent enhancement in the medullary phase.These image features combined with clinical data are helpful for diagnosis.

15.
Chinese Journal of Medical Genetics ; (6): 494-498, 2017.
Article in Chinese | WPRIM | ID: wpr-335097

ABSTRACT

<p><b>OBJECTIVE</b>To identify the causative mutations in five individuals affected with dyschondroplasia and develop an efficient procedure for detecting hot spot mutations of the FGFR3 gene.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples with a standard phenol/chloroform method. PCR-Sanger sequencing was used to analyze the causative mutations in the five probands. PCR-high resolution melting (HRM) was developed to detect the identified mutations.</p><p><b>RESULTS</b>A c.1138G>A mutation in exon 8 was found in 4 probands, while a c.1620C>G mutation was found in exon 11 of proband 5 whom had a mild phenotype. All patients were successfully distinguished from healthy controls with the PCR-HRM method. The results of HRM analysis were highly consistent with that of Sanger sequencing.</p><p><b>CONCLUSION</b>The Gly380Arg and Asn540Lys are hot spot mutations of the FGFR3 gene among patients with ACH/HCH. PCR-HRM analysis is more efficient for detecting hot spot mutations of the FGFR3 gene.</p>


Subject(s)
Female , Humans , Male , DNA Mutational Analysis , Methods , Mutation , Genetics , Polymerase Chain Reaction , Methods , Receptor, Fibroblast Growth Factor, Type 3 , Genetics , Transition Temperature
16.
Chinese Journal of Medical Genetics ; (6): 642-645, 2017.
Article in Chinese | WPRIM | ID: wpr-344206

ABSTRACT

<p><b>OBJECTIVE</b>To identify mutation of GJB2 gene and provide genetic counseling for a family affected with keratitis-ichthyosis-deafness (KID) syndrome.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples with a standard phenol-chloroform method. PCR and Sanger sequencing were used to analyze potential mutation in the proband. Suspected mutation was verified with a PCR-high-resolution melting (PCR-HRM) method. T-clone sequencing was applied to determine the parental origin of the mutation.</p><p><b>RESULTS</b>A heterozygous mutation, c.148G>A (p.Asp50Asn), which is located in the exon 1 of the GJB2 gene, was found in the proband. The results was confirmed by HRM analysis. Cloning sequencing suggested that the mutation was derived from the father's germline.</p><p><b>CONCLUSION</b>The hot-spot mutation c.148G>A (p.Asp50Asn) in the GJB2 gene probably underlies the KID syndrome in this Chinese family. A PCR-HRM method has been established to rapidly detect common mutations associated with this disease.</p>


Subject(s)
Child , Humans , Male , Connexins , Genetics , DNA Mutational Analysis , Keratitis , Genetics , Mutation , Pedigree
17.
China Pharmacy ; (12): 2315-2316,2317, 2016.
Article in Chinese | WPRIM | ID: wpr-605717

ABSTRACT

OBJECTIVE:To provide reference for rational drug use in the clinic. METHODS:Irrational medication orders eval-uated by the Affiliated Cancer Hospital of Zhengzhou University during Oct. 2014 to Sep. 2015 were arrangemented,summarized and analyzed. RESULTS:A total of 515 inpatient medical records were reviewed and analyzed,among which there were 165 unrea-sonable medical records and 185 irrational medication orders. Irrational medical records of general surgery department were the most(38 items,accounting for 23.03%). Irrational drug use mainly included irrational usage and dosage(80.00%),drug use with-out indications or not suit indications (7.57%),inappropriate solvent selection (4.86%). Including 66.22% of single overdose, 18.92% of longer medication duration. CONCLUSIONS:There are many irrational medical orders which should be standardized in our hospital,especially overdose and longer medication duration,which increase financial burden of patient. Pharmacists should strengthen communication with clinicians,and hold rational drug use trainings regularly base on the types of the irrationality. These can help to improve rational drug use and guarantee the safety of drug use.

18.
Chinese Journal of Medical Genetics ; (6): 431-434, 2016.
Article in Chinese | WPRIM | ID: wpr-247663

ABSTRACT

<p><b>OBJECTIVE</b>To identify deletion of large fragment in COL1A1/2 genes among patients with osteogenesis imperfecta (OI).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples by a standard SDS-proteinase K-phenol/chloroform method. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect gross deletions of the COL1A1/2 genes among 46 patients affected with OI, in whom no mutation was detected in the sequences of the COL1A1/2 genes.</p><p><b>RESULTS</b>Heterozygous deletions of the entire COL1A1 gene and exon 20 of the COL1A2 gene were detected in probands A and B, respectively, and no gross deletion was found in the remaining 44 samples. The MLPA result of proband A was confirmed by fluorescence quantitative PCR (Q-PCR) in his family. A further conjunction point analysis through gap-PCR and DNA sequencing revealed deletion of exons 17 to 23 in the COL1A2 gene, and a 637 bp-insertion from chromosome 5 in the proband B.</p><p><b>CONCLUSION</b>Two gross deletions have been found in the genes coding for collagen type I in the Chinese OI population, and the deletion of exons 17 to 23 in the COL1A2 gene is a novel mutation. This work not only has expanded the mutation spectrum of the COL1A1/2 gene, but also provided a support for prenatal genetic diagnosis for the families.</p>


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Collagen Type I , Genetics , Gene Deletion , Multiplex Polymerase Chain Reaction , Osteogenesis Imperfecta , Genetics
19.
Chinese Journal of Infection Control ; (4): 498-500, 2016.
Article in Chinese | WPRIM | ID: wpr-495256

ABSTRACT

Objective To explore the cost of healthcare-associated infection (HAI)management in a tertiary first-class hospital,provide data support for cost-effectiveness and cost-benefit analysis of HAI management,and provide scientific evidence for the rational allocation of hospital resources.Methods Micro-costing study was used to calcu-late the direct cost of the department of HAI management by collecting the quantity and unit price of each item. Results The total cost of HAI management in this hospital in 2013 were about ¥870 000,including human cost¥790 000,depreciated fixed assets ¥34 501 ,low-value consumption goods ¥3 800,publicity and training¥33 600,office consumables ¥5 208;average cost were ¥12.16 per person and ¥529.69 per bed.Conclusion Human cost is the main cost in HAI management in this hospital.

20.
International Journal of Laboratory Medicine ; (12): 1817-1819, 2016.
Article in Chinese | WPRIM | ID: wpr-494847

ABSTRACT

Objective To study the relationship of serum pulmonary surfactant protein and vascular endothelial growth factor re‐lated indexes to lung cancer .Methods Totally 56 patients with lung cancer in our hospital from September 2014 to December 2015 were selected as the observation group ,56 healthy personnel at the same period were selected as the control group ,then the serum pulmonary surfactant protein and vascular endothelial growth factor related indexes of control group and observation group ,obser‐vation group with different stages and pathological classifications were compared ,and the relationship between serum pulmonary surfactant protein and vascular endothelial growth factor related indexes and lung cancer were satisfacted with Logistic analysis .Re‐sults The serum pulmonary surfactant protein and vascular endothelial growth factor related indexes of observation group were all higher than those of control group ,and the serum pulmonary surfactant protein and vascular endothelial grow th factor related inde‐xes of observation group with higher stages were all higher than those of patients with lower stages ,and the levels of patients with adenocarcinoma were all higher than those of patients with squamous cell carcinoma ,and the serum pulmonary surfactant protein and vascular endothelial growth factor related indexes all had close relationship to the lung cancer (all P<0 .05) .Conclusion The serum pulmonary surfactant protein and vascular endothelial growth factor related indexes all have close relationship to the lung cancer ,and those indexes of patients with lung cancer should be paid more attention .

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