Background Congenital cataract is an important cause of blindness and amblyopia in children,and about 50％ of congenital cataract is hereditary.Objective The aim of this study was to determine the diseasecausing gene of one Hui congenital cataract pedigree by using exon combined target region capture sequencing chip of eye diseases.Methods This study was approved by Ethic Committee of Ningxia People's Hospital and followed Declaration of Helsinki.One Hui congenital cataract pedigree was recruited in Ningxia Eye Hospital in 2011.All the disease history of the members in this family were collected and recorded,and the eye examinations were performed.The peripheral blood specimens were collected from family members and 300 healthy individuals for the extraction of DNA.Exon combined target region capture sequencing chip of eye diseases was used to screen the candidate diseasecausing mutations,then PCR and direct sequencing were used to confirm the disease-causing mutations.Results This H ui family included 61 members of 6 generations,and 18 patients were diagnosed in serial 5 passages,conforming to autosomal dominant inheritance pattern.Among 18 cataract patients,7 individuals were associated with nystagmus and strabismus,and 4 patients had high myopia.Eight candidate pathogenetic mutations were detected by exon combined target region capture sequencing chip of eye diseases and bioinformatics method,with 5 mutations in noncoding regions and 3 in coding regions.The mutation P24T of CYRGD gene was confirmed as pathogenic mutation of this pedigree by using PCR and direct sequencing methods.These mutations co-segregated with affected members of the family,and the mutations were not found in the unaffected family members and 300 unrelated controls.Conclusions P24T of CYRGD gene mutation is confirmed as pathogenic mutation of this pedigree.Exon combined target region capture sequencing chip provides a new approach to detect disease-causing mutations of congenital cataract with diversity clinical phenotypes.

Objective To study the relationship between cardiovascular diseases (CVD) and ischemia modified albumin (IMA) in patients with type 2 diabetes mellitus (T2DM).Methods Ninety-six patients with T2DM were selected as T2DM group retrospectively,and 60 cases of healthy physical examination were selected as control group,the patient' s medical history data were collected,the IMA was detected and Doppler ultrasound examination was performed.The relationship between serum IMA level and some laboratory parameters were analyzed.Results Twenty-eight cases (29.2％,28/96) occurred CVD among 96 cases of T2DM patients.The level of IMA in T2DM group was higher than that in control group [(58.25 ± 11.84) kU/L vs.(23.38 ± 6.41) kU/L],there was significant difference (P ＜ 0.05).The levels of IMA in T2DM combined with CVD group (28 cases) and T2DM not combined with CVD group (68 cases) were(91.46 ± 13.63),(47.91 ± 9.38) kU/L; the level of IMA in T2DM combined with CVD group was higher than that in T2DM not combined with CVD group and control group,there was significant difference (P ＜ 0.05).All patients completed echocardiography,Spearman correlation analysis between IMA and echocardiography indicators showed that the level of IMA was positively correlated with left ventricular end-diastolic diameter (r =0.546,P =0.031),interventricular septal thickness (r =0.427,P =0.039),posterior wall diameter of left ventricle at end-diastolic (r =0.582,P =0.026) and left venifieular mass index (r =0.339,P =0.042),and IMA was negatively correlated with ejection fraction of left ventricle (r =-0.561,P =0.024).Multivariable Logistic regression analysis showed that IMA,high-sensitivity C reactive protein,diabetes duration,fasting blood glucose levels were independent risk factors for CVD.Conclusions Serum IMA level is significantly higher in T2DM patients.IMA level is a related risk factor for CVD.

Objective To investigate the correlation between homocysteine(Hcy) and atheroscIerosis (AS) in type 2 diabetic patients.Methods A total of 98 type 2 diabetic patients in Donghua Hospital Affiliated to Sun Yet-Sen University were enrolled in this study and served as diabetic group.Meanwhile diabetic patients were divided into aged group(aged ＞65 years old) and young and middle aged group(＜65 years old).Fortynine healthy volunteers were used as control group.Intima-media thickness(IMT) and atherosclerotic plaqlles of the extracranial common carotid artery were detected by high-resolution B-mode ultrasoograph.Fasting plasma glucose (FPG),postprandial 2 h glucose (2 hPG),glycosylated hemoglobin (HbA1 c),total cholesterol (TC),total triglyceride (TG),high density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol (LDL-C),creactive protein(CRP) and Hcy were measured.Correlation analysis of Hcy and IMT with other parameters was performed.Results Hcy level in patients with type 2 diabetes were (34.15 ± 10.25) μmol/L,significantly higher than those in healthy control group((8.46 ± 3.62) μmol/L,P =0.014).Hcy level in age group((40.63 ± 11.78) μmol/L) was significantly higher than that of young and middle aged group((26.54 ±9.38) μmol/L,P =0.028).IMT value and plaque detection rate in elderly patients were (1.28 ±0.26) mm and 66.1％ (20/41),significantly higher than that in the young and middle aged group((1.02 ±0.20) mm and 38.9％,P =0.041,0.027).Multiple stepwise regression analysis showed that age (OR =1.46,95％ CI:1.18-6.36,P =0.029),duration of diabetes (OR =2.62,95％ CI:1.78-7.43,P ＜ 0.001),LDL-C (OR =1.54,95％CI 1.19-6.27,P =0.028),CRP(OR =1.38,95％ CI 1.11-4.84,P =0.032),Hcy(OR =2.45,95％ CI 1.34-6.61,P =0.018)) were independent risk factors for carotid AS.Conclusion The Hcy level significantly increase in type 2 diabetic patients.Hcy,age,duration of diabetes,LDL-C,CRP are independently risk factors of neck AS.

Objective To investigate esophageal response to intraesophageal balloon-distention and acid perfusion stimuli and to evaluate the visceral hypersensitivity in non erosive reflux disease (NERD) patients.Methods Thirty-one NERD patients diagnosed by reflux disease questionnaire (RDQ) and endoscopy and 10 control subjects were enrolled in this study.Esophageal mechanical sensitivity was measured by esophageal barostat and recorded as initial perception threshold and maximal tolerated pain threshold by volume.The chemical sensitivity was measured by acid perfusion test,and quantified by two parameters (trigger time and acid related symptom score).Results Initial perception threshold and maximally tolerated pain threshold of NERD patients was (9.6?4.8) ml and (12.3?3.2) ml, significantly lower than those of controls,(13.2?7.5) ml and (21.6?5.7) ml,respectively (P

This study investigated the modulatory effect of synthetic cannabinoids WIN55,212-2 on 5-HT(3) receptor-activated currents (I(5-HT3)) in cultured rat trigeminal ganglion (TG) neurons using whole-cell patch clamp technique. The results showed that: (1) The majority of examined neurons (78.70%) were sensitive to 5-HT (3-300 μmol/L). 5-HT induced inward currents in a concentration-dependent manner and the currents were blocked by ICS 205-930 (1 μmol/L), a selective antagonist of the 5-HT(3) receptor; (2) Pre-application of WIN55,212-2 (0.01-1 μmol/L) significantly inhibited I(5-HT3) reversibly in concentration-dependent and voltage-independent manners. The concentration-response curve of 5-HT(3) receptor was shifted downward by WIN55,212-2 without any change of the threshold value. The EC(50) values of two curves were very close (17.5±4.5) μmol/L vs. (15.2±4.5) μmol/L and WIN55,212-2 decreased the maximal amplitude of I(5-HT3) by (48.65±4.15)%; (3) Neither AM281, a selective CB1 receptor antagonist, nor AM630, a selective CB2 receptor antagonist reversed the inhibition of I(5-HT3) by WIN55,212-2; (4) When WIN55,212-2 was given from 15 to 120 s before 5-HT application, inhibitory effect was gradually increased and the maximal inhibition took place at 90 s, and the inhibition remained at the same level after 90 s. We are led to concluded that-WIN55,212-2 inhibited I(5-HT3) significantly and neither CB1 receptor antagonist nor CB2 receptor antagonist could reverse the inhibition of I(5-HT3) by WIN55,212-2. Moreover, WIN55,212-2 is not an open channel blocker (OCB) of 5-HT(3) receptor. WIN55,212-2 significantly inhibited 5-HT-activated currents in a non-competitive manner. The inhibition of I(5-HT3) by WIN55,212-2 is probably new one of peripheral analgesic mechanisms of WIN55,212-2, but the mechanism by which WIN55,212-2 inhibits I(5-HT3) warrants further investigation.

Aged ; Breast Neoplasms ; metabolism ; pathology ; surgery ; Cadherins ; metabolism ; Carcinoma, Merkel Cell ; metabolism ; pathology ; Carcinoma, Small Cell ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Female ; Humans ; Lymphoma ; metabolism ; pathology ; Melanoma ; metabolism ; pathology ; Phosphopyruvate Hydratase ; metabolism ; Synaptophysin ; metabolism

Objective To determine whether the small intestinal submucosa(SIS)/nano meter crystal ?-tricalcium phosphate(nm ?-TCP) composite can enhance the regeneration of rabbit mandibular defects. Methods Twenty-six mandibular defects were made on thirteen New Zealand rabbits,and were ramdonly divided into four groups: groupⅠ,single SIS was applied to each defects;group Ⅱ,nm ?-TCP;groupⅢ,the composite scaffold materials of SIS and nm ?-TCP;groupⅣ,control.Twelve weeks after the operation,the samples were extracted for gross observation,histological analysis,X-ray examination,and relative bone density(RBD) recording.Results Twenty weeks after the operation,the newborn bone trabecula took up most of the area with defects.The restorative materials in the SIS group and composite scaffold materials group had almost degraded,and little remained in the ?-TCP group.The composite scaffold materials group was found more newborn bone trabecula with mature formation,and the average RBD was relatively higer,while less newborn bone trabecula with irregular formation and more collagen were observed in the control group. Conclusion The composite materials of SIS and nm ?-TCP,which enjoy favourable bone formation characteristics and histocompatibility, can enhance bone regeneration in rabbit mandibular defects.

Acute Disease ; Adolescent ; Asthma ; immunology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; RNA, Viral ; genetics ; Respiratory Syncytial Viruses ; genetics ; Respiratory Tract Infections ; immunology ; virology ; Reverse Transcriptase Polymerase Chain Reaction

Objective To investigate the effects of isoflurane delayed preconditioning(IDP) on myocardial proteomin rabbits with myocardial ischemia-reperfuaion(I/R).mjury.Methods Eight New Zealand white rabbits of both sexes weighing 2.0-2.5 kg were randomly divided into 2 groups(n=4 each):I/R group and IDP group.Myocardial I/R Wgg induced by occlusion of left anterior descending artery for 40 min followed by 120 min repednsion.In group IDP.the animals inhaled 2%isoflurane for 2 h,undergoing I/R 24 h later.At the end of 120 min reperfusion,the myocardium of left ventricle anterior wall was removed for two-dimensional gel electrophorvsis.The different protein spots were analyzed by means of mass chromatography.Results There were 13 different protein spots between group I/R and IDP.Of the 13 proteins,the expression of 10 spots Was up-regulated and 3 spots down-regulated in quantity.Eleven protein spots of all spots were identified by means of MALDI-TOF-MS.Conclusion IDP can aNenuate myocardial I/R injury in rabbits and it may be related to the alteration in proteome of myocardium.

In order to control the quality of Vigna radiata, the quality control method and standard were established in this study. The tests of water content, ash and ethanol-soluble extractives of V. radiata were carried out according to the methods recoded in appendix of Chinese Pharmacopeia (2010 edition, volume 1). The TLC method was established by using vitexin and isovitexin as references, and a mixture of acetate-method-water (10: 1.7 : 1.3) as the developing solvent system on GF254 thin layer plate. The contents of vitexin and isovitexin were determined by HPLC on a Prevail C18 (4.6 mm x 250 mm, 5 microm) column, using acetonitrile: water (23 : 77) as mobile phase at a flow rate of 1.0 mL x min(-1). The column temperature is 30 degrees C and the detection wavelength is 337 nm. As a result, vitexin, isovitexin and the other constituents were well separated on TLC detected under the UV light (254 nm). The methodology validation for the assay of vitexin and isovitexin presented that they were in good linear correlation in the ranges of 6.12-98 mg x L(-1) and 6.85-109.6 mg x L(-1), with the regression equations of Y = 46.213X - 7.100 (r = 1.000) and Y = 54.515X + 6.829 (r = 1.000), and the average recoveries were 98.2% (RSD 1.9%) and 97.2% (RSD 0.79%), respectively. The content ranges of vitexin and isovitexin from 25 different batches of V. radiata were 1.076-2.062 mg x g(1) and 1.127-2.303 mg x g(-1), respectively. suggesting that the qualities of V. radiata are relatively stable. The ethanol-soluble extractives, water content and total ash of 25 samples varied in the ranges of 13.27% - 18.46%, 9.59% - 12.43% and 2.63% - 3.53%, respectively. All of the above data proved that the established quality of control method V. radiata is specific and accurate, which can be used for the quality control of this drug.
Apigenin ; chemistry ; Fabaceae ; chemistry ; Quality Control