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1.
Article in Chinese | WPRIM | ID: wpr-755919

ABSTRACT

Objective To quantitatively evaluate the diagnostic value of blood oxygen leveldependent (BOLD) MRI in the diagnosis of different degrees of liver warm ischemia-reperfusion injury (WIRI) in rabbits and evaluate the intervention effect of liposomal prostaglandin E1 (Lipo-PGE1).Methods Seventy healthy adult New Zealand white rabbits were randomly divided into sham -operated group (A0),thermal ischemic groups (A1~A3) and intervention groups (A4~A6).All experimental rabbits were scanned by routine MR and BOLD MRI after 6-hour reperfusion.R2* images were calculated by two radiologists.The levels of alanine aminotransferase (ALT),asparate aminotransferase (AST) and lactate dehydrogenase (LDH) were examined.And liver pathological sectioning was performed.All data were processed by one-way,Spearman's correlation and receiver operating characteristic curve analyses.Results The intraclass correlation coefficient (ICC) was 0.805 of two measurements suggesting that the repeatability of the outcome was decent.R2* values among sham-operated,thermal ischemia and intervention groups were statistically significant (P<0.05).R2 * values in sham-operated and ischemia groups were statistically significant (P<0.05).As warm ischemia time elapsed,R2* value showed a rising trend.R2* values in sham-operated and intervention groups were statistically significant (P<0.05).R2* values of sham-operated group at the same timepoint of thermal ischemia and intervention groups were statistically significant (P<0.05).Under the same ischemic time,R2* values of intervention groups were smaller than those of thermal ischemia groups.With the prolongation of ischemia time,reduction of R2* values became more pronounced.However,it did not reach the level of A0 group.R2* values were significantly positively correlated with ALT,AST and LDH (r>0.5,P<0.05).ROC analysis indicated that R2* had an excellent diagnostic performance.Conclusions BOLD MRI may be applied for noninvasive assessment of liver ischemia-reperfusion injury in different degrees.Lipo-PGE1 alleviates ischemia -reperfusion injury and BOLD MRI can evaluate the relieving degree of Lipo-PGE1.

2.
Article in Chinese | WPRIM | ID: wpr-745323

ABSTRACT

Objective To compare salvage liver transplantation (SLT) with othotopic liver transplantation (OLT) in treatment of hepatocellular carcinoma.Methods A systematic literature search of PubMed,Embase,Cochrane Library,CBM,CNKI and Wanfang Med Online was performed from their dates of establishment to October 2017.The results were screened,data extracted and then analyzed with Stata 14.Results 23 studies with 4 161 patients were selected,including 579 patients in the SLT group and 3 582 patients in the OLT group.Compared with OLT,SLT was associated with a longer operative time (SMD =0.56,95%CI:0.29~0.83),higher intraoperative blood loss (SMD=1.56,95%CI:0.63~2.49),an increased risk of postoperative bleeding (OR =1.84,95%CI:1.08 ~ 3.14),a poorer overal survival rate (HR =1.29;95%CI:1.11~1.49) and disease free survival rate (HR=1.88;95%CI:1.26~2.81).The differences were all significant (all P<0.05).The biliary complications (OR=1.25;95%CI:0.79~1.98),vascular complications (OR=1.41;95%CI:0.69~2.89),sepsis (OR=1.10;95%CI:0.60~ 1.99),acute rejection (OR =1.25;95% CI:0.69 ~ 2.28) and perioperative mortality (OR =1.60;95 % CI:0.94 ~ 2.70) rates were not significantly different (all P>0.05).Conclusions OLT is a better treatment strategy for patients with transplantable hepatocellular carcinoma (HCC) compared with SLT.However,severe organ limitation,and feasibility and safety of surgery make SLT a better option for patients with HCC recurrence after liver resection.

3.
Chinese Journal of School Health ; (12): 493-495, 2019.
Article in Chinese | WPRIM | ID: wpr-818804

ABSTRACT

Objective@#To explore the differences of temperament characteristics between children with autism spectrum disorder (ASD) and normal children, and to provide evidence for early detection of ASD children and the development of personalized treatment plans.@*Methods@#In this case-control study, we enrolled 129 ASD children and 129 normal children aged 3-7 years. The Behavioral Style Questionnaire (BSQ) scale was used to assess the temperament.@*Results@#ASD children got higher scores in terms of "activity level", "withdrawal", "adaptability", "emotional nature", "persistence", and "response threshold" temperament dimensionality scores(P<0.05), and lower scores in terms of "rhythmical", "response intensity" temperament dimensionality scores than normal children(P<0.05). However, there was no significant difference in "attention dispersiveness" between ASD group and control group(P>0.05). Among the children in the ASD and control group, the proportion of each temperament type was "easy to raise temperament type" (41.8% vs 62.8%), "partially easy to raise temperament type" (31.8% vs 27.9%), "partially difficult to raise temperament type" (17.1% vs 6.2%), “slow-up-towarm temperament type" (7.7% vs 2.3%) and "difficult to raise temperament type" (1.6% vs 0.8%).Statistical analysis showed that the rate of "easy to raise temperament type" was lower than that in normal children(P<0.05), while the rates of "partially easy to raise temperament type", "partially difficult to raise temperament type", "difficult to raise temperament type", and "slow-up-to-warm temperament type" in ASD children were higher(P<0.05).@*Conclusion@#There was significant difference in temperament characteristics between ASD children and normal children. The evaluation of temperament type contributes to early detection of ASD children and provides a reference for their behavioral correction.

4.
Chinese Journal of School Health ; (12): 490-492, 2019.
Article in Chinese | WPRIM | ID: wpr-818803

ABSTRACT

Objective@#To investigate the level of vitamin B12 in children with autism spectrum disorder(ASD), and provide a theoretical basis for early detection and drug treatment of ASD.@*Methods@#A total of 89 ASD cases and 89 matched controls were collected. The levels of urinary methylmalonic acid (MMA) and serum vitamin B12, Transcobalamin Ⅱ (TCN2) were determined by enzyme-linked immunosorbent assay (ELISA). TCN2 gene rs1801198 was genotyped by SNaPshot.@*Results@#The serum levels of vitamin B12 and TCN2 in children with ASD [(369.08±131.88)pmol/L, (1.56±0.16)ng/mL] were significantly lower than those in the control group[(485.16±200.33)pmol/L, (1.71±0.17)ng/mL](t=-5.47, -5.92, P<0.05). The level of MMA in urine of ASD children [(758.97±106.96) ng/mL] was significantly higher than that in the control group[(693.66±121.72)ng/mL](t=3.94, P<0.05); The genetic polymorphism of rs1801198 locus was not associated with the risk of ASD(P>0.05), and there was no significant correlation with serum TCN2 level(F=1.16, P>0.05).@*Conclusion@#ASD children are at a potential deficiency of vitamin B12 and should strengthen their nutritional interventions while conducting ASD interventions.

5.
Article in Chinese | WPRIM | ID: wpr-745853

ABSTRACT

Objective To study the effect of hypothermia mechanical perfusion (HMP) preservation on microcirculation injury of isolated pig small intestine.Methods Ten healthy Bama miniature pigs were selected.The experimental animals were randomly divided into two groups.In HMP group (n =5),the intestine of 200 cm in length and corresponding blood vessels were cut and then connected to HMP storage device at 4 ℃ for 6 h.In UW group (n =5),the intestine of 200 cm in length and corresponding blood vessels were cut and then preserve in 4 ℃ UW solution for 6 h.Situ small intestine transplantation was performing when preservation finished.The serum NO and ET-1,the dry-wet ratios of intestine tissue,blood flow velocity of intestinal microcirculation and pathological changes of tissues were detected before and after preservation.Results There was no significant difference in serum ET-1 and NO between HMP group and UW group (P>0.05) before laparotomy.The levels of serum ET-1 increased and serum NO decreased after 30 min of blood flow opening in the transplanted intestine in both groups,more significantly in UW group.There was no significant difference in dry-wet ratio of small intestine before transplantation between the two groups (P> 0.05).When the blood flow was opened for 30 min,the dry wet ratio of small intestine in UW group was significantly lower than that in HMP group.There was no significant difference in blood flow velocity of intestinal microcirculation between the two groups before transplantation (P>0.05),and the blood flow velocity of the two groups decreased significantly after 30 min of blood flow opening,more significant in UW group (P<0.05).When the blood flow was opened for 30 min,there was mild edema of the lamina propria in the small intestinal tissue of the HMP group,scattered infiltration of the lymphocytes,no exuviation on the surface of the villi and no capillary congestion;In the small intestinal tissue of the UW group,there were edema and congestion of the intrinsic membrane,infiltration of the lymphocytes,the partial exuviation of the villi epithelial cells,focal erosion of the office,and capillary congestion.Conclusion Compared with cold preservation of UW solution,preservation of pig small intestine by HMP can reduce microvascular damage and alleviate the edema and injury caused by ischemia and hypoxia.

6.
Article in Chinese | WPRIM | ID: wpr-712208

ABSTRACT

Objective To evaluate effects of 7 common hemoglobin variants on HbA 1c measurements using 4 ion exchange high performance liquid chromatography methods .Methods Ninety five samples with hemoglobin variants were collected from January 2017 to February 2018 during HbA1c measurements in laboratary medicine of peking university shenzhen hospital .Samples with 7 common hemoglobin variants were measured using Sebia Capillary 2 Flex Piercing, Bio-Rad D-10, Arkray HA8180V, Tosoh G8, and MQ6000 Plus, respectively.Effects of 7 common hemoglobin variants on HbA 1c measurements by the 4 methods were analyzed using Capillary 2 Flex Piercing as a comparative method .All statistical analyses were carried out using SPSS software version 19.0 .Mean bias were calculated for samples with hemoglobin variants , box plot was established to display bias distribution .Results Hb New York showed no interference on the 4 HPLC mechods although Hb New York could not be detected .D-10 could detect 6 Hb variants, and showed clinically significant interference for Hb J-Bangkok, Hb G-Coushatta, and Hb G-Taipei.HA-8180V fast mode yielded no HbA1c values for Hb J-Bangkok, Hb G-Coushatta, and Hb G-Taipei.Hb E, Hb Q-Thailand, and Hb G-Honolulu produced significant negative biases for HA-8180V.G8 standard mode could detect 1 Hb variant, and showed significant negative biases for six Hb variants .MQ6000 Plus could separate six Hb variants , only Hb G-Coushatta and Hb G-Taipei produced significant negative biases for the system . Conclusions Some common hemoglobin variants can interfere with HbA 1c determination by the most popular methods in South China , which may lead to erroneous HbA 1c values.

7.
Article in Chinese | WPRIM | ID: wpr-735038

ABSTRACT

In some countries and regions,descending branch of lateral circumflex femoral artery(DBLCFA) has been successfully applied to CABG.It is feasible,easy and safe to harvest and apply DBLCFA to CABG.We review the origin,distribution and anatomical features of DBLCFA.And introduce its application,relevant techniques and strategies in CABG.

8.
Chinese Journal of Oncology ; (12): 384-389, 2018.
Article in Chinese | WPRIM | ID: wpr-806578

ABSTRACT

Objective@#To investigate the efficacy and drug related adverse reactions of sorafenib and sunitinib as first-line tyrosine-kinase inhibitors (TKIs) for patients with metastatic renal cell carcinoma (mRCC) and analyze the clinical prognostic factor for survival.@*Methods@#The data of 271 patients with metastatic renal cell carcinoma who had complete clinicopathological data were retrospectively analyzed, including 174 cases in sorafenib group and 97 cases in sunitinib group, to access patients′ overall survival (OS) and progression-free survival (PFS). Prognostic values of all characteristics were determined by using univariate and multivariate Cox regression models.@*Results@#The objective response rates (ORR) of the sorafenib and sunitinib groups were 14.9% and 19.6%, respectively, and the disease control rates (DCR) were 85.1% and 88.6%, respectively. No significant difference was found between the sorafenib and sunitinib group in ORR (P=0.325) or DCR (P=0.408). The most common grade 3 to 4 adverse events in the sorafenib group were hand-foot syndrome (6.7%), diarrhea (2.3%), and rash (2.3%). The most common grade 3 to 4 adverse events in the sunitinib group were neutropenia (6.2%), hand-foot syndrome (6.2%), and thrombocytopenia (4.6%). During the follow-up, 97 cases death occurred and 81 cases disease progression occurred in sorafenib group. The median PFS was 12 months (95% CI: 9-15 months), and the median OS was 25 months (95% CI: 21-29 months) in sorafenib group. While 74 cases death occurred and 40 cases disease progression occurred in sunitinib group, the median PFS was 12 months (95% CI: 10-12 months) and the median OS was 23 months (95% CI: 20-32 months) in sunitinib group. No significant difference was found between the sorafenib and the sunitinib group in PFS (P=0.771) or OS (P=0.548). Multivariate analysis showed Fuhrman grades (HR=1.358, 95%CI: 1.004-1.835), number of metastatic sites (HR=1.550, 95%CI: 1.143-2.101) and MSKCC risk grade (Intermediate risk group: HR=1.621, 95%CI: 1.117-2.232; Poor risk group: HR=2.890, 95%CI: 1.942-4.298) were independent prognostic factors for PFS. Fuhrman grades (HR=2.135, 95%CI: 1.533-2.974), number of metastatic sites (HR=1.774, 95%CI: 1.279-2.461) and MSKCC risk grade (Intermediate risk group: HR=1.415, 95%CI: 1.002-1.998; Poor risk group: HR=3.161, 95%CI: 2.065-4.838) were independent prognostic factors for OS.@*Conclusions@#The results of this study indicate that sorafenib and sunitinib are both effective as the first-line TKIs for mRCC patients and sorafenib has comparable efficacy to sunitinib. But they have differences in the incidence of adverse effects. Fuhrman grades, number of metastatic sites and MSKCC risk grade are independent prognostic factors for mRCC patients.

9.
Journal of Medical Biomechanics ; (6): 137-142, 2017.
Article in Chinese | WPRIM | ID: wpr-609595

ABSTRACT

Objective By developing a novel endoscopic succession closing device to overcome the shortcomings of existing devices that cannot deploy several clips at one time,to perform structural analysis on different clamp structures and to validate their performances in tissue closure through finite element analysis.Metbods Comparative analyses of 3 clamp structures,namely,the aligning tooth structure (original,clamp A),the staggered tooth structure (clamp B),a combination structure with page break angle and staggered tooth (clamp C),were performed to analyze pressure and its distribution on tissues when clamping the stomach wall.Displacement of 7.5 mm was then applied on the clamps to simulate the effect from operating procedures of the device and tissue kick-back.Results The maximum stresses of the clamp A and B were located on the first pair of teeth which was closest to the rotating shaft,with the stress of 10.39 kPa and 10.11 kPa,respectively.The maximum stress (11.35 kPa) of the clamp C was located on the second pair of teeth.For clamp A and B,the longer the distance to shaft,the larger pressure on stomach tissues.While for clamp C,the pressure on device-tissue interface showed little change along the path.Under tensile displacement,clamp A and B slipped off from the tissue when displacements reached to 5.0 mm and 6.5 mm,respectively,while clamp C did not slip off.Conclusions Clamp with page break angle and staggered tooth can exert the uniform maximum pressure to tissues and provide a larger contact area away from the rotating shaft,thus improving the anti-slippage and performance of the novel endoscopic closing device.

10.
Chinese Journal of Pathology ; (12): 102-107, 2017.
Article in Chinese | WPRIM | ID: wpr-808196

ABSTRACT

Objective@#To investigate the morphologic, immunohistochemical, genetic, clinical features and prognosis of Ewing-like BCOR-CCNB3 gene fusion undifferentiated sarcoma (BCOR-CCNB3 fusion sarcoma).@*Method@#Seventeen Ewing-like sarcoma cases were screened for CCNB3 expression and BCOR-CCNB3 fusion transcripts by immunohistochemistry and RT-PCR among 260 cases of Ewing-like sarcomas collected during Jan, 2006 to Dec, 2015. Three cases of BCOR-CCNB3 fusion sarcoma were found among 17 atypical Ewing sarcomas, and follow-up were conducted.@*Results@#The harboring of BCOR-CCNB3 fusion transcript was confirmed by RT-PCR and directly sequencing results. The three patients aged between 8 and 11 years old. Two of them were male and the other one was female. One patient achieved a complete response after chemotherapy, the other two died without chemotherapy after surgical excision in 12 months. Tumor cells in all 3 cases showed diffuse nuclear CCNB3, TLE1 and cyclin D1 positivity, while CCNB3 (0/12), TLE1 (1/12) and cyclin D1 (4/12) positivity was infrequent in the 12 cases of classical Ewing′s sarcoma. The oval or plump spindle tumor cells with fine chromatin arranged in solid pattern, the nucleoli was inconspicuous. The delicate capillary networks were obvious in the tumor.@*Conclusion@#With a detailed description of the histological spectrum, immunohistochemical features and clinical characteristic of BCOR-CCNB3 sarcoma, justify distinction from Ewing sarcoma could be possible.

11.
Article in Chinese | WPRIM | ID: wpr-510898

ABSTRACT

Purpose To investigate the mutations of ID3,TCF3 and MYC genes in Chinese Burkitt lymphoma and discuss their significance.Methods Total DNA was extracted from tumor tissues of 32 patients with Burkitt lymphoma,then the DNA was amplified by polymerase chain reaction (PCR),and the products of PCR were sequenced directly with Sanger sequencing methods.Results The mutation rates of ID3 and TCF3 genes were 35.5% (11/31) and 18.8% (6/32) respectively.The mutation rate of MYC was 50%.The mutation rates of MYC exon 1,MYC exon 2 and MYC exon 3 were 3.3% (1/30),50% (15/30) and 7.7% (2/26) respectively.Conclusion Recurrent mutations of the ID3,TCF3 and MYC genes in Chinese Burkitt lymphoma were identified by Sanger sequencing.For TCF3 gene,a novel mutation c.2202G > C p.L569V was found in three cases.In two cases,a novel mutation of c.1070A >G p.G182D was found in MYC gene.

12.
Article in Chinese | WPRIM | ID: wpr-811992

ABSTRACT

@#A qualitative analytical method of liquid chromatography coupled with quadrupole time-of-flight tandem mass spectrometry(HPLC-QTOF-MS)was developed for identification of major constituents in process residue of tripterygium glycosides. The HPLC-QTOF-MS assay was performed on a Zorbax SB-C18 column(4. 6 mm × 50 mm, 1. 8 μm)with the mobile phase consisting of acetonitrile and water containing 0. 2% formic acid in gradient mode. Positive ion mode was used for TOF-MS. According to the accurate molecular weight, MS fragment pathway, comparison with the retention time of reference compounds, total 30 compounds, including fifteen alkaloids, ten diterpenoids, four triterpenoids and an unsaturated fatty acid were identified or tentatively characterized in process residue of tripterygium glycosides. This study may be helpful to the comprehensive exploitation and utilization of process residue of tripterygium glycosides.

13.
Article in Chinese | WPRIM | ID: wpr-499933

ABSTRACT

s:Objective Discuss the application of CTA for renal vascular control in laparoscopic renal transplantation of relative renal donors. Methods 83 cases of relative renal transplantation donors which are completed in our department during March 2007 to Junuary 2012 were divided into 3 Groups. There were 35 cases in group A ( laparoscopic nephrectomy with preoperative CTA examination) , 15 cases in group B ( laparoscopic nephrectomy without preoperative CTA examination) , and 33 cases group C ( conventional nephrectomy) . In group A, the location and quantity of renal arteries and veins were observed with preoperative CTA to make plan for vascular control. And the oper-ation time, amount of bleeding, vascular injury cases, the renal warm ischemia time in the graft, mean time of postoperative hospitalization were compared with those of group B and group C. Results 5 cases of renal vascular anomalies were observed in Group A, including 2 cases of single accessory renal artery, 2 cases of early branch of renal artery and 1 case of double renal veins. And all of them were intraoperatively comfirmed. 3 cases of renal vascular anomalies were observed in group B, including 1 case of renal arteriovenous ectopic, 1 case of injury in the accessory renal artery with diameter of 0. 6 cm, and it were given artery elongation with inferior epigastric artery postoperatively, and 1 case of renal vein injure during blocking lumbar vein with Hemolock which were repaired postoperatively. 5 cases of renal vascular anomalies were observed in group C, including 1 case of single accessory renal artery, 3 cases of early branch of renal artery, and 1 case of accessory renal artery with the diameter of 0. 1cm in the right renal was injured during surgery. The operation time, amount of bleeding, cases with vascular injury , renal warm ischemia time of donor , and the mean time of postoperative hospitalization in group A were superior to those in group B and group C. Conclusion CTA is a simple noninvasive imaging method, which can provide the details of the renal vascular preop-eratively to ensure the safety of patients during surgery and improve survival quality of donor renal, and it is of great advance in laparoscopic renal transplantation of living-related renal donors.

14.
Article in Chinese | WPRIM | ID: wpr-237268

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.</p><p><b>RESULTS</b>A c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.</p><p><b>CONCLUSION</b>A c.467G>A mutation of the EDA gene probably underlies the disease in the family.</p>


Subject(s)
Base Sequence , Child , Ectodermal Dysplasia 1, Anhidrotic , Diagnosis , Genetics , Ectodysplasins , Genetics , Exons , Female , Genotype , Humans , Male , Mutation , Pedigree
15.
Acta Pharmaceutica Sinica ; (12): 953-61, 2012.
Article in Chinese | WPRIM | ID: wpr-431030

ABSTRACT

The leucoanthocyantin reducase (LAR) gene, an important functional gene of catechins biosynthesis pathway, was cloned from Fagopyrum dibotrys (D.Don) Hara by degenerate PCR and rapid amplification of cDNA ends (RACE). The full-length cDNA of FdLAR is 1 581 bp (GenBank accession: JN793953), containing a 1 176 bp ORF encoding a 391 amino acids protein, and its 3'-untranslated region has an obvious polyadenylation signal. The recombinant plasmid containing FdLAR completed ORF was transformed into E. coli BL21 (DE3). The target fusion peptide with molecular weight of 66 kD was expressed under the condition of 16 degrees C and induced by IPTG at final concentration of 1.0 mmol x L(-1). Bioinformation analysis indicated that the amino acid sequence of FdLAR showed great homology to other LAR with the NADB-Rossmann conversed domain in the N-terminus. Real-time quantitative PCR was used to detect the expression levels of FdLAR gene during different development periods. The determination of flavonoids contents in appropriate rhizomes showed that the relationship between FdLAR gene expression and the accumulation of flavonoids displayed different trends during vegetative growth and reproductive growth stages, suggesting that the FdLAR gene may be involved in the pathway of flavonoid metabolisms in Fagopyrum dibotrys.

16.
Chinese Journal of Dermatology ; (12): 785-788, 2012.
Article in Chinese | WPRIM | ID: wpr-430389

ABSTRACT

Objective To observe the ultrastructural features of recessive dystrophic epidermolysis bullosa inversa(RDEB-Ⅰ)and to detect the mutations of COL7A1 gene in a family with RDEB-Ⅰ.Methods A 24-year-old male patient complained of recurrent vesicles in the skin for 24 years.The lesions began as generalized pruritic vesicles and bullae soon after birth,with a predilection for areas subject to friction,and showed a trend to be worse in summer but mild in winter.No photosensitivity was observed.When he was 3 to 4 years old,the lesions were decreased in number,with the only involvement of the trunk and abdomen;thereafter,the lesions were improved year by year.The patient suffered from nephritis at the age of 5 years,which progressed into renal failure at the age of 15 years.He received renal transplantation and was given long-term oral tacrolimus and mycophenolate mofetil,which leaded to an improvement in the lesions.The family history was unremarkable,and the marriage between her parents was not consanguineous.Dermatological examination revealed large areas of irregularly-marginated,hypopigmented,atrophic scar on the waist,back and abdomen with onychodystrophy involving multiple nails.No vesicles were observed.Immunofluorescence antigen mapping and transmission electron microscopy were conducted to observe the expression of type Ⅶ collagen in and ultrastructure of cutaneous lesions from the patient.Venous blood samples were obtained from the patient as well as his parents and 3 sisters,and drill biopsy specimens were obtained from the margin of vesicular lesions and unaffected anterior tibial skin of the patient.DNA specimens were obtained from the blood samples of the family members and 150 unrelated healthy controls,and RNA was extracted from the biopsy samples of the patient.PCR and direct sequencing were carried out to detect mutations in COL7A1 gene,and reverse transcription-PCR was conducted to confirm the mutation at mRNA level.Results Skin cleavage was observed under lamina densa in the dermis,with a decrease in anchoring fibrils and expression of type Ⅶ collagen in the lesions of the patient.A heterozygous synonymous mutation c.C5499T which created a new splicing site and leaded to a premature terminal codon,as well as a heterozygous missense mutation c.C6205T(C-T transition at codon 2069:CGT to TGT)which leaded to the substitution of arginine by cysteine,were identified in the COL7A1 gene of the proband and all of his sisters,but not in any of the unrelated controls.The c.C5499T and c.C6205T mutations were inherited from the patient's father and mother respectively.Conclusion The compound heterozygous mutations c.C6205T and c.C5499T may be responsible for RDEB-Ⅰ in this patient.

17.
Article in Chinese | WPRIM | ID: wpr-354161

ABSTRACT

Genetic diversity of Lilium sargentiae was detected in this paper by sequence-related amplified polymorphism (SRAP) marker. One hundred wild samples were collected from 10 places, and 15 SRAP primer combinations were used for determination. NTSYS-pc2.1 and POPGEN1.32 were used for data analysis. The results showed that a total of 170 clear DNA bands were amplified, 163 of which were polymorphic. The proportion of polymorphic loci was 90.58% on the level of species. Nei's (1973) gene diversity (H) was 0.2631, Shannon's Information index was 0.3661, the G(st), was 0.3672, and the genetic distance ranged from 0.2021 to 0.5749. All materials could be clustered into four groups by UPGMA. The results demonstrated that the genetic diversity of L. sargentiae was rich on the level of species, and the genetic diversity within populations exceeded among populations. The correlations of genetic diversity and distribution were significant in L. sargentiae.


Subject(s)
Cluster Analysis , Conservation of Natural Resources , DNA Primers , Genetics , Genetic Markers , Genetics , Lilium , Genetics , Polymorphism, Genetic , Genetics
18.
Article in Chinese | WPRIM | ID: wpr-247393

ABSTRACT

<p><b>OBJECTIVE</b>To establish a method for isolation of the total RNA from Fagopyrum cymosum callus.</p><p><b>METHOD</b>The improved method combining that of CTAB extraction with the LiCl precipitation was used to isolate the total RNA from the four F. cymosum callus. The quality of the RNA was detected by UV spectrophotometric analysis, 0.8% non-denaturing agarose gel electrophoresis and RNA reverse transcription.</p><p><b>RESULT</b>The bands of 28S and 18S could be seen clearly by agarose gel electrophoresis, and the value of A260/A280 was between 1.9 and 2.0. The cDNA which was reverse-transcribed by the total RNA showed a wide length rage of 500 bp-5 kb.</p><p><b>CONCLUSION</b>The RNA extracted by this method meets the requirement of reverse transcription-polymerase chain reaction (RT-PCR), construction of cDNA libraries, et al. This improved method can be used to isolate the total RNA from F. cymosum callus with the advantage of simpleness, efficiency and low cost.</p>


Subject(s)
Fagopyrum , Genetics , RNA, Plant
19.
Article in Chinese | WPRIM | ID: wpr-412684

ABSTRACT

Objective To investigate the related factors of recurrence of early gastric cancer (EGC) after endoscopic resection. Methods Clinicopathologic data of 169 patients with EGC who underwent endoscopic resection and periodically followed up by the Chinese PLA General hospital were analyzed retrospectively. Results During a follow-up of 13-57 months (median time 24. 5 months), 12patients had gastric cancer again and the recurrence rate was 7. 1% (12/169). The recurrence time varied from 3 to 36 (28 ± 23)months and the median time was 18 months. The recurrence rates of 0.5 year, 1st year, 2nd year and 3rd year were 1.18% (2/169), 3.55% (6/169), 9.91% (11/111) and 12.24%(12/98), respectively. Eleven patients had gastric cancer again within 2 years after resection.Undifferentiated histology (including poorly differentiated carcinoma and signet ring cell carcinoma),submucosal infiltration and lymphovascular invasion of the primary lesion of EGC were related to thepostsurgical recurrence ( all P < 0. 05). Conclusion Most recurrence of EGC occurred within 2 years afterendoscopic resecton and is related with undifferentiated histology, submucosal infiltration andlymphovascular invasion. It is important for these patients to receive endoscopy follow up.

20.
Article in Chinese | WPRIM | ID: wpr-385683

ABSTRACT

Objective To analyze the association of gastrointestinal symptoms and sleep disturbance after Wen-Chuan earthquake. *Methods Using random sampling method, compared with Beijing publics at the same time, within two weeks, questionnaire was performed in the disaster area population.Gastrointestinal symptoms were diagnosed according to the Rome Ⅲ standard, and were analyzed in relation to sleep investigation. Results Among 956 disaster area individuals, 459 (48.0%) have gastrointestinal symptoms. Among 1021 Beijing publics, the corresponding number was 78(7. 6% ) ,which was significantly lower. The main gastrointestinal symptoms included abdominal pain ( 14. 0% ), distension ( 12. 1% ),constipation ( 10. 3 % ), heartburn (8. 6% )and dysporia (8. 3% ). Compared with Beijing publics (24. 4% ),the disaster area publics ( 83.7% ) with gastrointestinal symptoms had significant differences in sleep disturbance (P <0. 05 ). Early awakening with acratia had significant differences in disaster area publics (P < 0. 05). Conclusion There was relatively high incidence of gastrointestinal symptom after Wen-Chuan earthquake. The incidence of gastrointestinal symptom was related to sleep disturbance, and gastrointestinal symptoms were related to early awakening with acratia.

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