1.Gene diagnosis and clinical characteristics of autosomal recessive polycystic kidney disease.
Chinese Journal of Pediatrics 2013;51(4):311-313
Adolescent
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Child
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Child, Preschool
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DNA Mutational Analysis
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Diagnosis, Differential
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Humans
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Infant
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Infant, Newborn
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Liver Diseases
;
diagnosis
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genetics
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pathology
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Lung Diseases
;
diagnosis
;
genetics
;
pathology
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Magnetic Resonance Imaging
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Mutation
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Polycystic Kidney, Autosomal Dominant
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diagnosis
;
genetics
;
pathology
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Polycystic Kidney, Autosomal Recessive
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diagnosis
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genetics
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pathology
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Prenatal Diagnosis
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Receptors, Cell Surface
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genetics
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Tomography, X-Ray Computed
2.The Changes of Right Heart Structure in Patients With Type 2 Diabetes Mellitus
Shu ZHANG ; Jie ZHAO ; Gejing LIU ; Yongming LIU
Chinese Circulation Journal 2017;32(6):594-598
Objective: To explore the changes of right heart structure in patients with type 2 diabetes mellitus (T2DM). Methods: A total of 194 T2DM patients were recruited in our research including those complicated with hypertension (HP). The patients were divided into 2 groups: T2DM+HP group and T2DM group,n=97 in each group. In addition, there was a Control group composed by 97 healthy subjects from regular physical examination at the same period of time. Right heart structure was assessed and compared by echocardiography in all participants. Results: The pulmonary artery diameter (PAD), right atrial short axis diameter (RA-D1), right atrial long axis diameter (RA-D2) and right atrial area (RAA) were different among 3 groups, allP<0.05. Right ventricular (RV) basal diameter (RV-D1) and RV out flow tract diameter (RVOT1) were similar among different groups,P=0.066 andP=0.059. Compare with Control group, T2DM+HP group had increased RA-D1, RA-D2, RAA and PAD, allP<0.05, while right ventricular free wall thickness was similar between 2 groups; T2DM group showed increased PAD,P<0.05, while RA-D2 was similar,P=0.061. Linear correlation analysis indicated that RV-D1, RVOT1, PA, RA-D1, RA-D2 and RAA were positively related to BMI (r=0.123-0.380) and waist-to-hip ratio (r=0.136-0.325), allP<0.05; RA-D2 and RAA were positively related to natural logarithm of urinary albumin excretion rate (lnUAER) (r=0.172 andr=0.130),P<0.05; PAD was positively related to diastolic blood pressure and E/E' (r=0.154 andr=0.172), negatively related E/A (r=-0.118),P<0.05. Multi regression analysis presented that gender and BMI were independently related to RV-D1, RVOT1, RA-D1, RA-D2 and RAA; BMI and diastolic blood pressure were independently related to PAD; lnUAER was independently related to RAA. Conclusion: T2DM+HP patients had broadened PA and RV basal part, increased RA-D and RAA; the changes of right heart structure were relatively mild in T2DM patients. Elevated blood pressure, BMI and UAER were closely related to the changes of right heart structure in T2DM patients.
3.Cesarean section does not reduce mother-to-infant transmission of hepatitis B virus
Jie CHEN ; Shu ZHANG ; Qilan LIU ; Yihua ZHOU ; Yali HU
Chinese Journal of Perinatal Medicine 2013;(5):262-265
Objective To investigate whether cesarean section on pregnant women with chronic hepatitis B virus (HBV) infection may reduce mother-to-infant transmission risk of HBV.Methods Preserved serum samples of pregnant women at 15-20 weeks of gestation which were collected from July 2002 to August 2004 in 14 counties of Jiangsu Province were analyzed retrospectively.These samples were tested for HBV serologic markers with enzyme immunoassay,and 419 cases of positive hepatitis B surface antigen (HBsAg) were found.HBV DNA level of these HBsAg-positive women were further quantitatively measured with real-time polymerase chain reaction assay.Children of these 419 HBsAg-positive mothers were followed up during October 2009 to March 2010 and 298 of them were contactable (71.1%),among which 281 were enrolled in final analysis as they had complete information and had been vaccinated with three regular doses of HBV vaccine during infantile period.The 281 children were tested for serum HBV markers.The HBV infection rate in these children at age 5-7 was compared between those born by cesarean setion (CS group,n =136) and by vaginal delivery (VD group,n=145).T-test,x2 test or Fisher's exact test was used to analyze relevant parameters.Results(1) Maternal HBeAg-positive rates [25.7% (35/136) vs 34.5% (50/145)],HBV DNA levels in HBeAg-positive women [(2.30 × 106) IU/ml vs (2.09× 106) IU/ml],the percentages of HBIG injection after birth [38.2% (52/136) vs 35.9% (52/145)],breastfeeding ratios [82.4% (112/136) vs 75.9% (110/145)],and children' s ages at the follow-up [(5.9 ± 0.8) vs (6.0±0.6)] were comparable between CS group and VD group (all P>0.05).(2) Among these 281 children,272 (96.8%) were HBsAg-negative,9 (3.2%) were HBsAg-positive and 163 (58.0%) were anti-HBs-positive.The prevalence of HBsAg-positive [(2.9% (4/136) vs 3.4% (5/145)],HBsAg negative and anti HBc positive [0.0% (0/136) vs 1.4% (2/145)] and anti-HBs positive [57.4%(78/136) vs 58.6%(85/145)] in CS group were similar to those in VD group.Conclusions Cesarean section does not reduce the risk of mother-to-infant transmission of HBV.In clinical practice,elective cesarean section should not be suggested in order to prevent HBV vertical infection.
4.Significance of preoperative color doppler flow imaging for screening deep vein thrombosis in upper limbs fracture.
Jin-Yan OU ; Xiao-Jie LIU ; Shu ZHOU
China Journal of Orthopaedics and Traumatology 2012;25(8):678-680
OBJECTIVETo explore significance of preoperative color Doppler flow imaging (CDFI) for screening deep vein thrombosis in upper limbs fracture.
METHODSFrom January 2009 to December 2011, 1200 patients with upper limb fracture caused by trauma were respectively analyzed. There were 833 males and 367 females,ranging from 20 to 78 (mean 41.94 +/- 15.41) years. All patients had swelling and pain in injured limbs when enrolled. CDFI was used to examine upper limbs vein at 3 to 10 d after improvement of swelling, 1 day before reduction. Relationship among occurrence of thrombosis, gender, age and fracture sites were analyzed. Patients with DVT were analyzed with respective study to decide whether combined with diabetes, hypertension and hyperlipidemia.
RESULTSAll patients were checked by CDFI,which confirmed 9 cases with DVT. The rate of thrombosis was 0.75%, women than men (P < 0.01). The risk of blood clots occurred over 30 years, and the occurrence of thrombosis in humerus fracture was higher than radius ulnar fracture. One of 9 patients combined with hypertension and hyperlipidemia, 1 case combined with diabetes, and 7 cases with no complication.
CONCLUSIONUpper trauma fracture may occur deep vein thrombosis; CDFI should be used to check DVT in qualified hospital,which can maintain medical safety,decrease occurrence of medical disputes, and ganrantee patient's safety.
Adult ; Aged ; Aged, 80 and over ; Diabetes Complications ; surgery ; Female ; Fractures, Bone ; complications ; surgery ; Humans ; Hypercholesterolemia ; complications ; Hypertension ; complications ; Male ; Middle Aged ; Preoperative Period ; Ultrasonography, Doppler, Color ; Upper Extremity ; injuries ; Venous Thrombosis ; complications ; diagnostic imaging ; Young Adult
5.The effect of biomechanis with different bone density by the pedicle screws fixation
Shu LIU ; Feng SU ; Yanbo WANG ; Chunsheng WANG ; Jie GUO
Chongqing Medicine 2017;46(6):755-757
Objective To explore the biomechanis with different bone density by the pedicle screws fixation before and after fatigue test.Thus provide biomechanical basis for the clinical work.Methods A total of 27 fresh lumbar vertebrae samples of adult sheep (L1-L5) were equally divided into three groups,such as group A of decalcified with HCL 0 h,group B of decalcified with HCL 2 h and group C of decalcified with HCL 4 h,by using the random number table method,every groups was 9 models.Four screws was performed on the L4-L5 pedicle of vertebral arch of the three groups.Three groups were performed fatigue test of 250 000 times in 4 direction (flexion,extension,left lateral bending,right lateral bending) by (300+ 105) N load.The range of motion(ROM),the axial compressive stiffness were measured and the results in every group were compared before and after fatigue test.Results After fatigue test,ROM and the axial compressive stiffness had no significant change in group A (P>0.05),but ROM of B group and C group were both increased and the axial compressive stiffness were decreased,Significance was found with and between groups.Conclusion The stability of people who are performed pedicle screws simplly may be decrease when the spine of osteopenia.
6.Changes of oscillatory potentials of electroretinogram after methanol intoxication in rats.
Dong-Mei LIU ; Shu ZHOU ; Jie-Min CHEN ; Shu-Ya PENG ; Wen-Tao XIA
Journal of Forensic Medicine 2014;30(3):178-180
OBJECTIVE:
To study the characters of oscillatory potentials (OPs) of electroretinogram (ERG) after methanol intoxication in rats.
METHOD:
The SD rat models of methanol intoxication were established and divided into control group, 3-day intoxication group, 7-day intoxication group. The changes of OPs of ERG were recorded in a dark room.
RESULTS:
The total amplitudes of 3-day and 7-day intoxication groups decreased approximately 50% compared with that of the control group, while the schedule delayed approximately 16% and 61%, respectively.
CONCLUSION
The characters of methanol intoxication in rats included delay in schedule and decline in the total amplitude of OPs.
Animals
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Electroretinography
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Methanol/poisoning*
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Rats
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Retina/physiopathology*
7.Expression and mechanism of alphaB-crystallin in retina and extraocular tissues and organs.
Dong-mei LIU ; Shu ZHOU ; Jie-min CHEN ; Shu-ya PENG ; Wen-tao XIA
Journal of Forensic Medicine 2014;30(6):470-473
alphaB-crystallin is the structural protein of vertebrate lens, which is widely expressed in non-lens tissue. As one of the heat shock protein family members, alphaB-crystallin possesses biological properties of molecular chaperones and anti-apoptotic effects. Multi-factor injuries, such as retinopathy, inflammation and nervous system diseases, have a closely relationship with alphaB-crystallin. This paper reviews the research progress of the expression and mechanism of alphaB-crystallin in retina and extraocular tissues and organs.
Crystallins
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Gene Expression Regulation, Developmental
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Heat-Shock Proteins/metabolism*
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Humans
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Lens, Crystalline
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Retina
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alpha-Crystallin B Chain/metabolism*
8.Correlation between contrast vision and sweep visual evoked potential acuity.
Shu-Ya PENG ; Jie-Min CHEN ; Dong-Mei LIU ; Shu ZHOU ; Meng WANG ; Wen-Tao XIA
Journal of Forensic Medicine 2015;31(1):20-27
OBJECTIVE:
To compare the correlation between contrast vision (LV) and sweep visual evoked potential acuity (SVEP-A) among people with emmetropia, mild myopia, and moderate myopia.
METHODS:
The CV and SVEP-A were tested individually in 96 eyes from healthy young volunteers, including 37 eyes of emmetropia, 27 eyes of mild myopia, and 32 eyes of moderate myopia. The statistic analysis was done by ANOVA analysis and rank sum test.
RESULTS:
(1) With the decrease of contrast, CV and SVEP-A decreased in every group. (2) At 100% contrast, the difference of CV between emmetropia and mild myopia had statistical significance (P<0.05). At 100%, 25% and 10% contrast, the difference of CV between emmetropia and moderate myopia had statistical significance (P<0.05). (3) In the same group, the difference of 100% and 25% contrast had statistical significance (P < 0.05). So was between 100% and 10% contrast. (4) At 100% and 10% contrast, the difference of CV and SVEP-A had statistical significance (P < 0.05).
CONCLUSION
The CV of myopia relates to many factors including ametropia and fundus lesions. The correction of ametropia is important to the values of CV and SVEP-A.
Evoked Potentials, Visual/physiology*
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Eye
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Fundus Oculi
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Humans
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Myopia/physiopathology*
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Neurologic Examination
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Severity of Illness Index
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Vision Tests/instrumentation*
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Visual Acuity/physiology*
9.SSCP screening of mutation in exon 13 of low density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients
Xiaodong PAN ; Lüya WANG ; Chengai WU ; Jie LIN ; Shu LIU ; Lanping DU
Chinese Journal of Laboratory Medicine 2008;31(3):287-291
Objective To investigate the application of polymerase chain reaction and single strand conformation polymorphism analysis(PCR-SSCP)to the screening of gene mutation of exon 13 of the LDLR gene in familial hypercholesterolemia(FH).Methods Peripheral blood DNA of 16 clinically diagnosed FH patients was extracted and the exon 13 coding region of the LDLR gene was amplified by PCR.PCR products were separated by optimized SSCP electrophoresis and visualized by silver staining.DNA fragments with abnormal mobility were sequenced to determine the nature and position of mutations.Results The SSCP electrophoresis conditions were optimized as 8%polyaerylamide(degree of cross linking 49:1)gel without glycerin at a electrophoresis temperature of 10℃ or 8%polyacrylamide gel with 5%glycerin at room temperature,gel thickness of<0.4 mm,and a voltage of 5 V/cm.DNA fragments were well resolved with the conditions and sequencing of the abnormal bands resuhed in detections of missense mutations of A606T,D601N,Y601D and G636V together with a synonymous mutation of 1959C→T in 4 patients and a sole synonymous mutation of 1959C→T in other 4 patients.Conclusion PCR-SSCP is an effective method for the screening of exon13 mutations of LDLR gene in FH patients.
10.Serum protein fingerprinting coupled with artificial neural network distinguishes glioma from healthy population or brain benign tumor.
Jian LIU ; Shu ZHENG ; Jie-kai YU ; Jian-min ZHANG ; Zhe CHEN
Journal of Zhejiang University. Science. B 2005;6(1):4-10
To screen and evaluate protein biomarkers for the detection of gliomas (Astrocytoma grade I-IV) from healthy individuals and gliomas from brain benign tumors by using surface enhanced laser desorption/ionization time of flight mass spectrometry (SELDI-TOF-MS) coupled with an artificial neural network (ANN) algorithm. SELDI-TOF-MS protein fingerprinting of serum from 105 brain tumor patients and healthy individuals, included 28 patients with glioma (Astrocytoma I-IV), 37 patients with brain benign tumor, and 40 age-matched healthy individuals. Two thirds of the total samples of every compared pair as training set were used to set up discriminating patterns, and one third of total samples of every compared pair as test set were used to cross-validate; simultaneously, discriminate-cluster analysis derived SPSS 10.0 software was used to compare Astrocytoma grade I-II with grade III-IV ones. An accuracy of 95.7%, sensitivity of 88.9%, specificity of 100%, positive predictive value of 90% and negative predictive value of 100% were obtained in a blinded test set comparing gliomas patients with healthy individuals; an accuracy of 86.4%, sensitivity of 88.9%, specificity of 84.6%, positive predictive value of 90% and negative predictive value of 85.7% were obtained when patient's gliomas was compared with benign brain tumor. Total accuracy of 85.7%, accuracy of grade I-II Astrocytoma was 86.7%, accuracy of III-IV Astrocytoma was 84.6% were obtained when grade I-II Astrocytoma was compared with grade III-IV ones (discriminant analysis). SELDI-TOF-MS combined with bioinformatics tools, could greatly facilitate the discovery of better biomarkers. The high sensitivity and specificity achieved by the use of selected biomarkers showed great potential application for the discrimination of gliomas patients from healthy individuals and gliomas from brain benign tumors.
Adult
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Aged
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Algorithms
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Artificial Intelligence
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Astrocytoma
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blood
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classification
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diagnosis
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Biomarkers, Tumor
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blood
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Brain Neoplasms
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blood
;
classification
;
diagnosis
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Diagnosis, Computer-Assisted
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methods
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Female
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Humans
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Male
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Middle Aged
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Neoplasm Proteins
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blood
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Neural Networks (Computer)
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Peptide Mapping
;
methods
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Protein Array Analysis
;
methods
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Reproducibility of Results
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Sensitivity and Specificity
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Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
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methods