Background The main cause of X linked juvenile retinoschisis is mutation of RS1 gene.The phenotype of X linked juvenile retinoschisis is associated with the mutation types of RS1 gene.However,the relationship of genotype and phenotype of X linked juvenile retinoschisis is unclear.Objective The present study was to survey the clinical phenotype of X-linked juvenile retinoschisis in twelve Chinese families with eleven different mutations in the XLRS1 gene. Methods Complete ophthalmic examinations with slit lamp biomicroscopy,fundus examination and Dhotography were carried out in 28 affected males.Ganzfeld electroretinography (ERG),fundus fluorescein angiography,A and B-scan standardized echography and optical coherence tomography(OCT)were also performed in some patients.The coding regions of the XLRS1 gene that encodes retinoschisin were amplified by polymerase chain reaction(PCR)and analyzed by the single strand conformation polymorphism(SSCP)assay.The RS1 gene mutations were determined by direct sequencing in an automated sequencer.Written informed consent wasobtained prior to the survey. Results The 28 affected males showed a typical foveal schisis with or without peripheral retinoschisis.The typical response to white single flash ERG was seen with a reduction of the b-wave amplitude and a relative preservation of the a-wave amplitude.causing a reduced b/a ratio in the male patients.A total of eleven different XLRS1 mutations in 12 families were identified,four of these mutations,including one frameshift mutaion(22 del T)of exon 1,Asp145His,Arg156Gly and Trp163X mutations of exon 5,were first described in this survey.One non-disease-related polymorphism(NSP),or the 576C to T(Pro192Pro)change of exon 6 was also newly reported herein.In the families with a frameshift(22 del T)mutation of exon 1,a splice donor site mutation(IVS1+2T

OBJECTIVETo observe the effect differences on post-stroke dysphagia among acupoint injection combined with neural electrical stimulation, acupoint injection, neural electrical stimulation, and swallowing training respectively, so eligible intervention can be applied to this kind of disease.

METHODSOne hundred and eight-three patients of post-stroke dysphagia were randomized into a comprehensive treatment group (42 cases), an acupoint injection group (44 cases), a neural electrical stimulation group (49 cases) and a swallow training group (48 cases) and were treated with the comprehensive therapy of acupoint injection and neural electrical stimulation, acupoint injection, neural electrical stimulation and swallowing training separately. The treatments for 10 days made one session. There were 3 days at the interval among treatment sessions and 3 sessions were required totally. The cases in those treatment groups were blankly controlled with the other 47 patients of post-stroke dysphagia. All the patients received basic rehabilitation treatment. The modified water swallowing test was conducted to assess the efficacy before treatment, 10 days after treatment and 30 days after treatment in each group separately. The clinical efficacy, score of water swallowing test and improvement in water swallow test were compared among the groups.

RESULTSAfter 10-day treatment, the differences in efficacy and score of water swallow test were not significant in each group (all P > 0.05). After 30-day treatment, the effective rate (94.29%, 33/35) in the comprehensive treatment group was apparently better than 68.75% (22/32) in the acupoint injection group, 80.00% (32/40) in the neural electrical stimulation group, 67.50% (27/40) in the swallowing training group and 42.86% (12/28) in the blank group separately. The score in water swallow test in the comprehensive treatment group was lower than that in each of the other groups (1.37 ± 0.60 vs 2.03 ± 1.00, 1.90 ± 0.90, 2.20 ± 0.72, 2.71 ± 0.90, all P < 0.05). The differences in the effective rate and score in water swallow test were not significant among the acupoint injection group, neural electrical stimulation group and swallowing training group (all P > 0.05), which indicated that the improvement in swallowing function in the comprehensive treatment group was significantly superior to the other groups (all P < 0.05).

CONCLUSIONThe comprehensive therapy of acupoint injection and neural electrical stimulation achieves the much better efficacy on post-stroke dysphagia.

Acupuncture Points ; Adult ; Aged ; Combined Modality Therapy ; Deglutition ; Deglutition Disorders ; drug therapy ; etiology ; physiopathology ; therapy ; Electric Stimulation Therapy ; Female ; Humans ; Male ; Middle Aged ; Stroke ; complications ; Treatment Outcome ; Vitamin B 12 ; administration & dosage ; Young Adult

Objective To study the association of the expression of bone morphogenetic protein (BMP) antagonist gremlin and vascular calcification in radial arteries of patients with stage 5 of chronic kidney disease (CKD).Methods Radial arteries of 40 patients with stage 5 of CKD were collected as specimens of the study group,which were trimmed off during arterial venous fistula operations.Splenic trabecular arteries were collected as specimens of the control group,which were removed from 38 patients with simple traumatic splenic rupture.All the arteries were examined histologically for calcification with yon Kossa stain.Expressions of gremlin and BMP-2,-7were detected by immunohistochemistry and their serum concentrations were detected by ELISA.Images of histological sections were semi-quantitatively analyzed by Image-Pro Plus 6.0.SPSS 19.0software was used to perform statistical analysis.Results Significantly positive von Kossa stain was found in radial arteries from 12 of 40 patients (30％) in study group,which located in the layer of medial smooth muscle cells.However,there was no obvious positive stain in control group.Additionally,in study group,significant expressions of gremlin and BMP-2 were detected in those radial arteries of positive yon Kossa stain,which also located in the layer of medial smooth muscle cells.Positive correlations were found among gremlin expression level,BMP-2 expression level and yon Kossa stain intensity.However,the BMP-7 expression intensity in arteries of study group was much weaker as compared to control group.Conclusions Both gremlin and BMP-2 may be involved in the process that the smooth muscle cells of radial arteries in patients with stage 5 of CKD phenotypically transform into osteoblast-like cells.However,BMP-7 possibly prevents this process.

OBJECTIVETo determine the content of baicalin in Scutellaria baicalensis callus induced by different doncentrations of exogenous hormones.

METHODHPLC system was adopted to determine baicalin in S. baicalensis callus. Chromatographic conditions: ODS column was adopted, with methanol-water-phosphate (47: 53: 0.2) as the mobile phase. The flow velocity was 1 mL x min(-1), the detective wavelength was 280 nm, and the temperature of column was room temperature.

RESULTS. baicalensis callus induced by 6-BA 1.0 mg x L(-1) + NAA 0.5 mg x L(-1) showed the highest baicalin content, up to 49.78 mg x g(-1).

CONCLUSIONThe experiment is such a simple, rapid and stable method for determining the baicalin content that it can be used for determining the baicalin content in S. baicalensis callus.

2,4-Dichlorophenoxyacetic Acid ; pharmacology ; Benzyl Compounds ; Chromatography, High Pressure Liquid ; Dose-Response Relationship, Drug ; Flavonoids ; metabolism ; Kinetin ; pharmacology ; Naphthaleneacetic Acids ; pharmacology ; Plant Growth Regulators ; pharmacology ; Purines ; Scutellaria baicalensis ; drug effects ; metabolism ; Tissue Culture Techniques ; methods

OBJECTIVETo explore the effect of 18-β glycyrrhetinic acid (GA) on the endoplasmic reticulum of nasal epithelial cells in allergic rhinitis (AR) model rats.

METHODSTotally 96 Wistar rats were randomly divided into the blank group, the AR model group, the loratadine group, the GA group, 24 in each group. AR models were established by peritoneally injecting ovalbumin (OVA). Morphological scoring was performed. GA at 21. 6 mg/kg was intragastrically administered to rats in the GA group. Nasal mucosal tissues were taken for electron microscopic examinations at the second, fourth, sixth, and tenth week after drug intervention.

RESULTSThe overlapping score was 2.10 ± 0.45 in the blank group, 5.10 ± 0.56 in the loratadine group, 5.10 ± 0.56 in the AR model group, 5.20 ± 0.78 in the GA group, showing statistical difference when compared with the blank group (P < 0.01). Results under transmission electron microscope showed that the number of the endoplasmic reticulum increased in the AR model group, with obvious cystic dilatation, a lot of vacuole formation, and degranulation. A large number of free ribosomes could be seen in cytoplasm. With persistent allergen exposure, changes mentioned above was progressively aggravated in the endoplasmic reticulum of nasal mucosal epithelium in the AR model group. But the dilation of endoplasmic reticulum, vacuole formation, and degranulation were relieved in the GA group, and got close to those of the blank group.

CONCLUSION18-β GA could improve the expansion, vacuolization, and degranulation of the endoplasmic reticulum of nasal epithelial cells in AR model rats.

Animals ; Anti-Inflammatory Agents ; pharmacology ; therapeutic use ; Endoplasmic Reticulum ; Epithelial Cells ; drug effects ; Glycyrrhetinic Acid ; pharmacology ; therapeutic use ; Nasal Mucosa ; drug effects ; Rats ; Rats, Wistar ; Rhinitis, Allergic ; drug therapy

OBJECTIVEBone marrow stromal cells (bMSCs) of rabbits transferred with mammalian hBMP-4 expression plasmid were used to construct tissue-engineered bone. Gene therapy combined with tissue-engineering technique was explored to further improve osteogenesis.

METHODSpEGFP-hBMP-4 plasmid was constructed by subcloning technique. bMSCs were then transferred with either pEGFP-hBMP-4, pEGFP plasmid by lipofectamine or left uninfected in vitro. The cells from the 3 groups were combined with natural non-organic bone (NNB) to construct tissue-engineered bones, which were subcutaneously implanted into nude mice (6 implants per group) for 4 weeks. Specimens were evaluated through histological and computerized new bone formation analysis.

RESULTSpEGFP-hBMP-4 plasmid was successfully constructed. bMSCs could attach and proliferate on the surface on NNB. In vivo experiment showed that new bone formation in pEGFP-hBMP-4 group was higher than those of the control groups.

CONCLUSIONSTissue-engineered bone using hBMP-4 gene modified bMSCs might be an ideal alternative for the repair of bone.

Animals ; Bone Morphogenetic Protein 4 ; Bone Morphogenetic Proteins ; genetics ; Genetic Therapy ; Humans ; Mice ; Mice, Nude ; Osteogenesis ; Rabbits ; Tissue Engineering

Objective To determine the value and the optimal cutoff point of waist circumference (WC) in screening diabetes mellitus (DM) and to provide evidence for DM prevention and identifying population at risk in mid-western rural areas of Shandong province.Methods A sample consisting 16 341 rural residents was selected and studied.All participants were physically examined on height,weight,WC and fasting plasma glucose (FPG).Oral glucose tolerance test (OGTT) was performed for subjects with FPG valued from 6.1 to 7.0 mmol/L.DM was defined according to the criteria set by WHO in 1999.Area under the curve (AUC),sensitivity,specificity and Youden index were computed based on the receiver operating characteristic (ROC) curve analysis.Optimal cutoff point was determined by the maximum of Youden index.Results The prevalence rates of DM for males and females increased along with the rise of WC (trend test X2=72.01,122.65,P＜0.01 ).It appeared significantly higher in those with WC 85 cm in females and≥80 cm in males,with those WC ＜85 cm for females and ＜80 cm for males,in particular.AUCs were 0.639 and 0.655 for males and females respectively and both had significant differences (t=7.22,11.07,P ＜0.01 ).However,the AUCs did not show significant difference (t=0.70,P ＞ 0.05) between males and females.The Youden index reached maximum when WC approached 85 cm for females (24.90%) and 80 cm for males (24.39%).The sensitivity and specificity were 58.04%and 66.86%for males,and 67.08%and 57.31%for females.Conclusion WC seemed to be an effective indicator for screening the DM.The optimal cutoff point of WC would be 85 cm for females and 80 cm for males in screening DM and defining the population at risk in this area.

Objective To explore the method of reducing the phenomenon of wet bag in the no-woven packing after sterilization in the central sterile supply .Methods The phenomenon of wet bag in the no-woven operation packing after sterilization was due to the bad absorption of water molecules in the non -woven packaging, movement the non-woven packaging without the given time and poor temperature and humidity in the storage.The improvements were carried out according to the above problems , and the effective method of reducing the phenomenon of wet bagwas summarized .The no-woven packing in the experimental group was packed by no-woven, and filled up a piece of the crepe paper between the instruments and the non-woven and laid the single deck cotton cloth over the sterilization frame in the packaging process .Results The incidence rate of wet bag was decreased from 7.64%to 1.04%three months after improvement.Conclusions Filling up a piece of the crepe paper between the instruments and the non-woven and laying the single deck cotton cloth over the sterilization frame in the packaging process can effectivelyprevent the phenomenon of wet bag in the no -woven operation packing after sterilization .

OBJECTIVEChildren aged 3 - 6 years in the urban areas of China were surveyed for the first time to find out the state of child neglect (CN) as well as the major relevant risk factors so as to provide evidence for developing intervention measures.

METHODS1163 children (of whom 49.6% were males and 4.5% were minority nationality) were randomly sampled under multistage stratification, from 25 cities which representing 15 provinces of China. Based on the Child Neglect Norms used by China, prevalence of CN was identified and SPSS-Windows 11.0 was employed for statistical analysis. Scores, frequency/degrees, age, sex and 5 types (physical, emotional, educational, medical and safety) of CN on every group of the regions, were calculated. Multifactorial analysis was conducted through Binary Logistic Regression and multiple linear regression to determine the relevant risk factors.

RESULTS(1) The average degree of CN for the 3 - 6 year-olds was 42.2, with its prevalence as 28.0%. Degrees of CN for the groups of 3, 4, 5, 6-year-olds were 41.7, 42.2, 42.1 and 43.1 (F = 0.988, P > 0.05), with frequencies of 25.0%, 25.3%, 27.9% and 35.4% (chi(2) = 4.798, P > 0.05), respectively. Degrees for CN in males and females were 42.7 and 41.8 (F = 2.502, P > 0.05) with the frequencies as 32.6% and 23.7% (chi(2) = 6.585, P < 0.05), respectively. Degrees of CN for the five types were 39.4-43.4 with the frequencies as 5.1%-12.9%, respectively. No significant difference was found in the frequency of the types (with an exception on 'physical neglect') between males and females (P > 0.05). The highest frequency (42.9%) of CN was seen in the single-parent families and the lowest in large family with three generations (25.5%). (2) According to monofactorial chi(2) test, the possible risk factors of CN would include: educational background, occupation and decrease of income of the parents during last year, etc. (3) Binary Logistic regression analysis showed that the influential factors to the occurrence of CN would include: father's educational background, sex of the child and mother's occupation, etc. (4) Multiple linear regression showed that the influential factors to the degree of CN were: family structure, number of supporting family members, relationship between parents and children, etc.

CONCLUSIONThe degree and frequency of CN among children aged 3 to 6 in the urban areas of China were high but similar among the four age groups. Male children had a higher frequency of neglect than females, but with similar degree. Children in single-parent families had the highest frequency. The major influential factors of CN would include: educational background, occupation, family structure, family income of the parents which were similar to the results reported from foreign literature.

Child ; Child Abuse ; statistics & numerical data ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Male ; Parenting ; Parents ; psychology ; Social Class ; Surveys and Questionnaires ; Urban Population

OBJECTIVETo study sagittal mobility about the FTJ (first tarsometatarsal joint) and its relationship with the pathophysiology and treatment of hallux valgus patients.

METHODSAccording to Lee's method, FTJ sagittal mobility of 300 normal feet and 200 hallux valgus was measured, and its correlative factors were statistically analysed.

RESULTSFTJ sagittal mobility of 300 normal feet was 8.4 degrees +/- 2.3 degrees , and that of 200 hallux valgus was 11.7 degrees +/- 3.2 degrees , the difference was significant. The normal range of FTJ sagittal mobility was less than 13 degrees . The sagittal overmotion of FTJ had relation to the anatomical configuration of FTJ (P < 0.05), intercuneiform splitting (P < 0.01), transferred pain under the second metatarsal head (P < 0.01), and FTJ osteoarthritis (P < 0.01) had no relation to HVA (hallux valgus angle), IMA (intermetatarsal angle), second metatarsus medial diaphyseal cortex hypertrophy (P > 0.05).

CONCLUSIONLee's method is convenient and accurate. Both HVA and IMA can not represent the sagittal mobility measurement of FTJ, which should be routinely evaluated, especially for hallux valgus patients with type I FTJ. Lapidus procedure should be considered for patients with larger FTJ in combination with transferred pain under the second metatarsal head, intercuneiform splitting, FTJ osteoarthritis.

Adolescent ; Adult ; Aged ; Female ; Hallux Valgus ; diagnosis ; physiopathology ; surgery ; Humans ; Male ; Metatarsophalangeal Joint ; physiology ; surgery ; Middle Aged ; Osteotomy ; methods ; Range of Motion, Articular