1.Left ventricular noncompaction and gene mutation
International Journal of Pediatrics 2017;44(1):28-31
Left ventricular noncompaction(LVNC) is a relatively rare cardiomyopathy due to the cessa tion of endocardial and myocardial cells in the early embryo development.The disease mainly is involved in the left ventricle.LVNC is sporadic or familial genetic disease,which has obvious genetic heterogeneity.It is X linkage and autosomal dominant inheritance.The genetic characteristics of LVNC are not single inheritance,and its pathogenic gene and mutation site are diverse.It has been shown that LVNC has a close correlation with multiple gene mutations,and it is also overlap with the genes that caused other cardiomyopathy.In this paper,we will review the research progress of LVNC and related gene mutations.
2.Comparing clinical effects of titanic elastic nail and locking compression pine fixation in treating subtrochanteric fractures in older children.
Kang-xiang ZHU ; Shan-qing YIN
China Journal of Orthopaedics and Traumatology 2013;26(12):985-988
OBJECTIVETo explore optimal choice of surgical treatment for subtrochanteric fractures in older children.
METHODSA retrospective study of 36 older children with subtrochanteric fractures was performed between January 2010 and January 2012. Among them, 18 patients (11 males and 7 females) aged from 7 to 13 years old with an average of 9.4 were treated with titanic elastic nail (TEN) fixation, 4 cases were Type II A, 3 cases were II B, 2 cases were II C, 4 cases were III A, 3 cases were III B according to Seinsheimer classification. Eighteen patients (10 males and 8 females) aged was from 8 to 13 years with an average of 9.6 were treated with locking compression pine (LCP) fixation, and 3 cases were Type II A, 4 cases were II B, 3 cases were II C, 4 cases were IIIA, 2 cases were III B. Fracture healing time, postoperative complications (including wound infection, failure and breakage of internal fixtion, deformities of angular on the sagittal view, deformities of coxa vara) and recovery of hip joint function were observed and recorded.
RESULTSAll children were followed up from 15 to 36 months with an average of 21. Fracture were all healed, the time ranged from 7 to 16 weeks (mean 9.5). Three cases in TEN group occurred mild deformities of angular on the sagittal view, 3 cases occurred deformities of coxa vara and 2 cases occurred limb shortening; while 1 case occurred mild deformities of angular on the sagittal view, and no deformities of coxa vara and limb shortening occurred in LCP group. No early close of epiphyseal injury, avascular necrosis of femoral head occurred. Clinical efficacy were evaluated by Sanders standard, 14 cases got excellent results, 3 cases were moderate in LCP group, while 9 cases in excellent, 4 in moderate in TEN group. There were no significant differences between two group in recovery of hip joint function and complications.
CONCLUSIONFor the treatment of subtrochanteric fractures in older children,the efficacy of LCP fixation is better than that of TFN fixation, which has advantages of reliable fixation, and less complications.
Adolescent ; Bone Nails ; Child ; Female ; Fracture Fixation, Intramedullary ; instrumentation ; methods ; Hip Fractures ; surgery ; Humans ; Male ; Retrospective Studies ; Treatment Outcome
3.Multifocal electroretinogram findings of different types of diabetic macular edema
Hao, KANG ; Yan-shan, XU ; Hong, ZHANG
Chinese Journal of Experimental Ophthalmology 2011;29(2):139-144
Background It is very important for us to understand retinal function change in the patient with diabetic mellitus in clinic. At present,the study about diabetic mellitus associated with macular edema includes fundus fluorescense angiography ( FFA) and multifocal electroretinogram ( mfERG) etc.. However, seldom research is performed in the mfERG findings for different types of diabetic macular edema. Objective This study aimed to investigate the mfERG change in different types of diabetic macular edema compared with normal population. Methods Fifty-seven eyes with diabetic macular edema from 40 patients and 35 eyes from age-and gender-matched normal subjects were enrolled in this study. The eyes with diabetic macular edema were assigned to local macular edema group (n=16) ,diffuse macular edema group (n = 22) and cystoid macular edema ( n = 17 ) based on the manifestation of FFA. MfERG was recorded in all the individuals. The informed consent was obtained from each subject prior to any the medical examination. Results In focal diabetic macular edema group,the response density of P1 wave was significantly attenuated in ring 1 , showing a statistical difference in comparison with controls (t =2. 170,P = 0.038) ,and the latencies of P1 and N1 waves showed obvious prolong in ring 4 and 5 (t = 2.519,P = 0. 017 ;t = 2. 451 ,P = 0. 020). In diffuse diabetic macular edema group,the response densities of P1 and N1 waves were declined in ring 1,3,5 and ring 1,3,4,5 respectively,and the latencies of P, in ring 3,4 were significantly delayed respectively in comparison with controls (all P < 0. 05 ). In cystoid diabetic macular edema group, the response densities of P1 and N1 waves were lowed from ring 1 through 5 respectively, and the latencies of P1 and N1 waves were significantly longer from ring 3 through 5 and ring 4 respectively with the statistically significant difference from controls (all P<0. 05). The visual function of fovea was badly damaged. Conclusion These studies indicate that the most serious damage of visual function is in foveal area in cystoid diabetic macular edema group, and is then parafoveal area of diffuse diabetic macular edema group and perifoveal area in focal diabetic macular edema group. The outcome of mfERG presents a good consistency with FFA findings in the patients with diabetic macular edema.
4.Identification of radix et rhizoma clematidis and its adulterants using DNA barcoding.
Shan-Shan FENG ; Si-Hao ZHENG ; Ya-Kang LI ; Lin-Fang HUANG
Acta Pharmaceutica Sinica 2014;49(2):260-266
This study provides the candidate sequences in the identification of Radix et Rhizoma Clematidis and its adulterants using DNA barcoding. We amplified and sequenced the region psbA-trnH, with the data of 284 sequences from GenBank, the differential intra- and inter-specific divergences, genetic distance, barcoding gap were used to evaluate five barcodes, and the identification efficiency was assessed using BLAST1 and Nearest Distance methods. The results showed that psbA-trnH barcodes performed high identification efficiency and inter-specific divergences among the five different DNA barcodes. Analysis of the barcoding gap and NJ tree showed psbA-trnH was superior to other barcodes. Based on the identification and PCR amplification efficiency, psbA-trnH can be the ideal barcode to identify Radix et Rhizoma Clematidis and its adulterants accurately.
DNA Barcoding, Taxonomic
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methods
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DNA, Plant
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genetics
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Drug Contamination
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Nucleic Acid Amplification Techniques
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methods
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Plant Roots
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genetics
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Plants, Medicinal
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classification
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genetics
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Ranunculaceae
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classification
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genetics
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Rhizome
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genetics
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Species Specificity
5.Single nucleotide polymorphisms in cell cycle regulator p21 and p27 genes are associated with susceptibility to epithelial ovarian cancer
Xia JIN ; Shan KANG ; Na WANG ; Yanping XING ; Yan LI
Chinese Journal of Obstetrics and Gynecology 2008;43(3):209-212
Objective To investigate the association of single nucleotide polymorphisms(SNP)in p21and p27 genes with the risk of epithelial ovarian cancer(EOC).Methods Genotypes were analyzed by polymerase chain reaction-restrictive fragment length polymorphism(PCR-RFLP)method in 234 patients with EOC and 284 control women in China.Results (1)The frequencies of the p21 in healthy controls were 34.2%.49.6%and 16.2%,while the distribution of the C and T allele was 59.0%and 41.0%,respectively.The p21 C/C(28.2%),C/T(53.0%),T/T(18.8%)distribution in ovarian cancer patients was not significantly different from that in healthy controls(P>0.05).There was no statistic difference in allele distribution between ovarian cancer patients and healthy controls(P>0.05)either.The stratification analysis by tumor histological type did show that the genotype distribution in four types of ovarian cancer patients was significantly different from that in healthy controls(P=0.02).The C/C genotype was likely to reduce the risk of epithelial endometrial cancer.and the adjusted odds ratio was 0.56(95%CI:0.32-0.98).(2)The genotype frequencies of the p27 in healthy controls were 88.4%,10.9%and 0.7%.while the distribution of the V and G allele was 93.8%and 6.2%.respectively.The V/V(93.6%),V/G(5.1%)and G/G(1.3%)distribution in ovarian cancer patients was significantly different from that in healthy controls(P=0.04).There was no statistic difference in allele distributionbetween ovarian cancer patients and healthy controls(P>0.05).Compared with the V/G and G/G genotypes,the V/V genotype increased the risk of EOC,the adjusted odds ratio was 1.92(95%CI:1.02-3.63).Conclusion The C/C genotype of p21 may reduce the risk of epithelial endometrial cancer,and the genotype of p27 V/V may be a potential risk factor for susceptibility to EOC.
6.Study on chemical constituents in stems of Nelumbo nucifera by UPLC-ESI/Q-TOF-MS/MS.
Feng SHAN ; Yuan YUAN ; Li-ping KANG ; Lu-qi HUANG
China Journal of Chinese Materia Medica 2015;40(16):3233-3238
This paper employed UPLC-Electrospray Ionization /Quadrupole-Time of Flight-Mass /Mass Spectrometry( UPLC-ESI/Q-TOF-MS/MS) to analyze the chemical constituents in the stems of Nelumbo nucifera. The stems of N. nucifera were extracted with 75% methanol, and we applied an Agilent Zorbax SB-Aq column (2.1 mm x 100 mm, 1.8 μm) to UPLC analysis with water methanol-water( containing 0.05% formic acid) in gradient as mobile phase. The eluates were then detected by ESI-Q-TOF-MS/MS. Results indicated that 22 benzylisoquinoline alkaloids were indendified. Among them, one alkaloid may be a new compound and a component was found in the Lotus for the first time. We fully identify the composition of the Lotus stems for the first time, Which could provides theoretical foundation for further study and utilization of the medicinal resources.
Chromatography, High Pressure Liquid
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methods
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Drugs, Chinese Herbal
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chemistry
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Molecular Structure
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Nelumbo
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chemistry
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Plant Stems
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chemistry
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Tandem Mass Spectrometry
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methods
7.Clinical analysis of 2 261 cases of esophageal cancer
Lizhen WEI ; Yafan KANG ; Denggui WEN ; Baoen SHAN
Chongqing Medicine 2017;46(9):1186-1187
Objective To analyze the clinical features and onset factors of esophageal cancer.Methods The SPSS 13.0 software was adopted to establish the computer records management system of esophageal cancer.The clinical data in 2 261 clinically cured discharged cases of esophageal cancer from January 2011 to December 2013 were statistically analyzed.Results Forty-nine cases (2.17%) were in the 30-<40 years old group,324 cases (14.33%) were in the 40-<50 years old group,963 cases (42.59%) were in the 50-<60 age group,790 cases (34.94%) were in the 60-<70 age group and 135 cases (5.97%) were in the 70 years old or more group.Among 2 240 cases,2 031 cases (90.36 %) showed the different differentiation degrees of squamous epithelial carcinoma by histological analysis,the invaded range displayed fibrous membrane(T3) in 759 cases(33.57%) and peripheral tissue(T4) in 682 cases(30.16%);having smoking and drinking history was in 1 281 cases(56.67%) and 1 025 cases (45.33 %) respectively;596 cases (26.36 %) had genetic family history,75.08 % was father positive or mother positive.Conclusion Esophageal cancer is mainly squamous cell carcinoma,the onset age is mainly concentrated at the age 50-<70 years old,which is correlated with smoking and drinking years,moreover has obvious genetic susceptibility.
8.Changes in perioperative level of hepatitic B virus DNA in patients with hepatocellular carcinoma and their influences
Wen KANG ; Bangde XIANG ; Shan HUANG ; Lequn LI ; Yinnong ZHAO
Chinese Journal of Hepatobiliary Surgery 2013;19(9):681-685
Objective To investigate the influences in perioperative variations in serum levels of hepatitis B virus (HBV) DNA in patients with HBV-related hepatocellular carcinoma (HCC),and to observe the differences in postoperative recovery of liver function between the antiviral treatment group and the non-antiviral treatment group of patients.Methods From Feb.2012 to Nov.2012,55 patients whose preoperative serum levels of HBV DNA were below the recommended level of antiviral treatment were included into the study.The serum levels of HBV DNA,IL-6,IL-10 and IL-27 preoperatively and on postoperative day 3 were measured.Using the postoperative serum levels of HBV DNA,the patients were divided into 2 groups:the high level group and low level group.Patients in the high level group received antiviral treatment,but the low level group did not.The changes in preoperative and postoperative liver function and other data of the patients were recorded and analyzed by the SPSS 13.0 software.Results (1) The reactivation rate of serum HBV DNA in the HBsAg-positive HCC patients was 45% (25/55).In patients with a preoperative HBV DNA level < 1 × 104 IU/ml the postoperative HBV reactivation rate was up to 76% (19/25).(2) Logistic regression analysis showed tumor diameter (P=0.037,0.006) and injecting anhydrous alcohol into the resection margin (P=0.004) were independent risk factors of postoperative HBV reactivation.(3) Postoperative serum IL-10 elevation was associated with HBV reactivation (P=0.001).On the contrary,serum IL-6 level elevation was associated with HBV reactivation (P<0.01).(4) When compared with the low level group,postoperative serum alanine aminotransferase,total bilirubin and albumin in the high level group showed no significant difference (P>0.05).Conclusions Hepatectomy could reactivate HBV replication during the perioperative period.A close monitoring of HBV DNA during the perioperative period was necessary,especially in patients with low HBV DNA levels.The tumor diameter and injecting anhydrous alcohol into the resection margin were independent risk factors of postoperative increase in HBV DNA.Changes in serum IL-10 and IL-6 levels after hepatic resection might be related to the elevation of HBV DNA level.In addition,reactivation of HBV did not aggravate damages in postoperative liver function.Antiviral treatment did not promote recovery of liver function in the early stage.
9.Clinical characteristics of 15 glioma cases with leptomeninges and spinal cord metastases
Shan LI ; Jianxin CHEN ; Yan LI ; Zhuang KANG ; Xun KANG ; Hongmei ZHANG ; Wenbin LI
Chinese Journal of Clinical Oncology 2016;43(6):260-264
Objective:To retrospectively analyze and summarize the clinical characteristics of 15 glioma cases that led to leptomenin-ges and spinal cord metastases in Department of Glioma, Beijing Shijitan Hospital, Capital Medical University since 2011. Methods:A total of 15 cases were considered, including 5 patients with World Health Organization gradeⅡ, 6 patients with gradeⅢ, and 4 pa-tients with gradeⅣ. One patient had a tumor at the brain stem, two patients had tumors at the spinal cords, and the other patients had tumors at the hemispheres. One case received biopsy, 4 cases received subtotal resection, and 10 cases received complete resec-tion. Results: Symptoms included low back pain, sensory and motor dysfunction, incontinence, and seizures. After the metastases spread to the cerebrospinal region, patients were treated with chemotherapy, whole spine radiotherapy, intrathecal chemotherapy, and target therapy. The median time of leptomeninges and spinal cord metastasis dissemination appearance was 10 months (1.5-80 months) since surgery. The median overall survival time of the 15 patients was 20 months (9-83 months), and the median survival time was 6 months (2-48 months) after leptomeninges and spinal cord metastases. Conclusion:The prognosis of glioma patients with lepto-meninges and spinal cord metastases was poor, and a proportion of the patients who received appropriate treatment might have a better survival.
10.Effect of GDF15 on iron overloading and erythropoiesis.
You-Shan ZHAO ; Chun-Kang CHANG
Journal of Experimental Hematology 2011;19(2):537-541
Ineffective erythropoiesis is recognized as the principal reason of non-transfusional iron overload. In the process of expanded erythropoiesis, the apoptosis of erythroblasts induces the up-regulation of GDF15. GDF15 suppresses hepcidin production by the hepatocytes. Subsequently, low hepcidin levels increase iron absorption from the intestine resulting in iron overload. Physiological dose of GDF15 can promote the growth and differentiation of erythroid progenitors, but the high dose of GDF15 can suppress the secretion of hepcidin. The regulation of GDF15 may also be related to iron levels, epigenetic regulation and hypoxia. In this article the GDF15 and its expression and distribution, roles of GDF15 in erythropoiesis and iron overload, as well as the regulation factors of GDF15 are reviewed.
Erythropoiesis
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Growth Differentiation Factor 15
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metabolism
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Humans
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Iron Overload