Background Stickler syndrome is a genetic connective tissue disorder that affects the ocular,skeletal,orofacial and auditory systems.To determine the gene mutation loci can offer a basis for genetic diagnosis and management of Stickler syndrome.Objective The aim of this study was to research the clinical characteristics of a pedigree with Stickler syndrome and identify the disease-causing gene mutation.Methods This study was approved by Ethic Committee of Peking Union Medical College Hospital.The clinical study and pedigree analysis were performed in one family with Stickler syndrome type Ⅰ (STL Ⅰ).Nine family members were examined with informed consent.The entire coding regions of COL2A1 gene with flanking intronic regions were amplified by PCR and directly sequenced.The detected sequence change was confirmed to be mutationloci by examining whether they existed in normal control individuals.Mutant proteins were predicted with online software.Results There were 4 generations and 11 members in this family,and 2 members died,including 1 patient.Three patients were found in 9living families.Inheritance of this family complicd with an autosomal dominant inheritance mode.All affected individuals showed the consistent phenotypes with STL Ⅰ,including high myopia,membranous vitreous anomaly and surface central flat,short nose,palatoschisis,etc.Mutation screening of COL2A1 gene revealed that the first base of intron 12 was deleted(IVS12+1G del).Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene by forming termination cordon in advance.This mutation occurred in all affected individuals,however,no mutation was observed in any unaffected member or 100 normal unrelated individuals.Conclusions This study identifies a novel splice-site mutation(IVS12+ 1G del)in COL2A1 gene in a Chinese STL Ⅰ pedigree.This is the first report on a mutation in a Chinese STL Ⅰ family.

Epiretinal membrane (ERM) is a relatively common macular disease that forms along the surface of the internal limiting membrane (ILM) of the retina to some reason.The pathogenesis is not clear.Microincision vitrectomy surgery has been confirmed as a minimally invasive and very safe modality of treatment.Deciding when to perform a vitrectomy can be difficult.There are many factors which can affect the postoperative visual acuity,such as age,the thickness of macular,integrity of photoreceptor inner segment/outer segment (IS/OS) junction.

Aged ; Female ; Humans ; Subclavian Vein ; abnormalities

Objective To analyze the effect of eukaryotic plasmids containing wild (sense) or anti- sense methylenetetrahydrofolate reductase (MTHFR) gene on cell viability and transcription level of tumor related genes in human gastric cancer cell line.Methods Human gastric cancer cell line MKN-45 was cultured.Recombinant plasmids containing wild MTHFR (W) or antisense MTHFR (A) gene, pCMV-W and pCMV-A,were constructed.Then pCMV-W,pCMV-A and pCMV blank plasmid were transfected into MKN45 cells respectively by using lipofect.Cell viability was analyzed by 3-(4,5-bime- thylthiazolyl-2)-2,5-diphenyhetrazolium dromide(MTT).The transcription levels of Dnmt 1,c-myc, p21~(WAF1) and hMLH1 genes were detected by real-time polymerase chain reaction(PCR).Results Cell vi- ability remarkably increased in those transfected with wild MTHFR (P＜0.01),which was contrary to those transfected with antisense MTHFR(P＜0.01).The expression of those tumor related genes mRNAs were all remarkably decreased in the MKN45-W cells in comparison with those in the MKN45-pCMV cells.No significant difference in the expressions of those tumor related genes mRNAs were found between the MKN45 cells transfected with pCMV-A and blank pCMV.Conclusion MTHFR influences cell viability and the expres- sion level of tumor related genes in human gastric cancer cell line MKN45.

Objective To study the effectiveness and safety of lipo-PGE1 on proteinuria in patients with diabetic nephropathy. MethodsForty-eight cases suffering from diabetic nephropathy with proteinuria exceeding 0.5 g/d and stage Ⅱ-Ⅳ of chronic kidney disease were divided into two groups.The basic treatment scheme for all the patients includes insulin and/or oral antidiabetic drugs and anti-hypertension drugs.The patients in the control group were given dipyridamole,and those in the lipo-PGE1-treatment group were managed with lipo-PGE1(alprostadil injection),10 ?g,qd?14 d.Results After the treatment,a decrease in proteinuria and increase in serum albumin were observed in the lipo-PGE1-treatment group,which was superior to the control group(P

Objective: To compare the efficacy difference between moxibustion at sensitized-acupoints and non-sensitized- acupoints using the same group of acupoints. Methods: A total of 139 patients with chronic superficial gastritis were divided into a sensitized acupoint group (102 cases) and a non-sensitized acupoint group (37 cases) based on whether acupoint sensitization occurred. The SPSS version 19.0 statistical software propensity score matching function was used to balance the baseline data between the groups. Finally, 29 pairs of matched patients were included, namely 29 cases in the sensitized acupoint group and 29 cases in the non-sensitized acupoint group. Both groups were treated with moxibustion therapy. The treatment lasted for 30 min per time, and was performed every other day for 8 weeks. Changes in the traditional Chinese medicine (TCM) symptom score and the short-form 36-item health survey (SF-36) score in both groups were observed before and after treatment, as well as the clinical efficacy. Results: The covariates of age, course of disease, TCM symptom score and SF-36 score in the two groups were balanced after matching (all P>0.05). After treatment, the total effective rate was 100.0％ in the sensitized acupoint group and 79.3％ in the non-sensitized acupoint group. The difference in the total effective rate between the two groups was statistically significant (P<0.01). After treatment and at the 4-week follow-up, the TCM symptom scores in the sensitized acupoint group were significantly lower than those in the non-sensitized acupoint group (all P<0.01); the SF-36 scores in the sensitized acupoint group were significantly higher than those in the non-sensitized acupoint group (all P<0.01). Conclusion: With the same group of acupoints, the sensitized acupoints have a better therapeutic effect and long-term efficacy than the non-sensitized acupoints in the treatment of chronic superficial gastritis.

To study the pharmacokinetic effect of different combined administration with monarch drug Ziziphi Spinosae Semen on its main components in rats. Sprague-Dawley (SD) rats were randomly divided into Ziziphi Spinosae Semen group, Ziziphi Spinosae Semen-Fructus Schisandrae Chinensis group, Ziziphi spinosae Semen-Salviae Miltiorrhize Radix et Rhizoma group and Zaoren Ansheng prescription group. After oral administration, HPLC was eluted with the mobile phase of acetonitrle-0.03% phosphate acid water in a gradient mode. The detection wavelength was 280 nm. The pharmacokinetic parameters of spinosin and ferulic acid were calculated by DAS 2. 0 software. Compared with Ziziphi Spinosae Semen group, Ziziphi Spinosae Semen-Fructus Schisandrae Chinensis group, Ziziphi Spinosae Semen-Salviae miltiorrhizae Radix et Rhizoma group showed a lower maximum plasma concentration (C(max)) and area under curve (AUC(0-t)) for spinosin and ferulic acid but higher clearance speed (CL/F); whereas the Zaoren Ansheng prescription group showed higher maximum plasma concentration (C(max)) and area under curve (AUC(0-t)) for spinosin and ferulic acid but lower clearance speed (CL/F). Compared with Ziziphi Spinosae Semen group, prescription group showed slower metabolism of spinosin and ferulic
Animals ; Chromatography, High Pressure Liquid ; Coumaric Acids ; administration & dosage ; blood ; pharmacokinetics ; Drug Interactions ; Drugs, Chinese Herbal ; administration & dosage ; analysis ; pharmacokinetics ; Female ; Flavonoids ; administration & dosage ; blood ; pharmacokinetics ; Humans ; Male ; Rats ; Rats, Sprague-Dawley ; Ziziphus ; chemistry

In the basis of a large amount of literatures, this article sumed up the characteristics and application of eggshell membrane.

Objective To study the clinical values of positron emission tomography(PET)in pre-term and term newborn infants through observing neonatal brain by 18F-fluorodeoxyglucose(18F-FDG)PET.Methods The brain by 18F-FDG PET in 11 term and 7 pre-term newborn infants after administration of 0.1 mCi /kg 18F-FDG were observed.There were 11 males and 7 females,who were normal by brain computed tomography or magnetic resonance imaging.Results The brain 18F-FDG PET image in pre-term and term newborn infants was relatively high in thalamus,and relatively low in cerebral cortex,whereas the total brain was different with adults.Especially in the area of cerebral cortex,the uptake of glucose was relatively higher,and the structure of brain 18F-FDG image was more clear in term infants than that in pre-term infants.Conclusion Neonatal brain picture by 18F-FDG PET is a new tool for predicting the brain function,and its clinical values need further investigating.

Objective To explore the changes of positron emission tomography(PET)in newborn infants with HIE through 18F-fluorodeoxyglucose(18F-FDG)and it's significance.Methods Eleven healthy newborn infants and 8 newborn infants with HIE were selected.Among the healthy newborns,7 cases were male and 4 cases were female,and the mean birth-weight was(3 350?620)g,the gestational age was(37.9?1.3)weeks.Among the HIE neonates,5 cases were male and 3 cases were female,and the mean birth weight was(3 180?390)g,the gestational age was(37.1?2.4)weeks.There were no significant differences of sex and gestational age between the 2 groups.The examination time was form 3 to 21 d,and the mean age was(8.7?3.9)d.PET of the children in 2 groups were observed after 0.1 mCi/kg 18F-FDG injected 30 min.Results The brain 18F-FDG PET image in newborn infants was relatively high in thalamus,and relatively low in cerebral cortex,whereas the total brain was different with that of the adults,and that was not as clear as that of adults.Especially in the area of cerebral cortex,the uptake of glucose was relatively higher.The structure of brain 18F-FDG image was significantly changed in newborn infants with HIE,especially increased in the areas of peripheral ventricle and hypophloeodal cerebral white matter,and there was a remarkably bilateral asymmetry.Conclusions Neonatal brain picture by 18F-FDG PET is a new tool for predicting the brain function,and its clinical values need further investigating.