Objective To detect and analyze the mutation of fibroblast growth factor receptor 3(FGFR3) gene among a family with congenital achondroplasia(ACH).Methods Six blood samples of family member in this pedigree were cellected according to the informed consent process for genetic research,and 2 unralted healthy human blood sample were taken as controls.The mutation at nucleotide position 1 138 on FGFR3 gene was detected by using Polymerase chain reaction and single-strand conformation polymorphism(PCR-SSCP)and polyme-rase chain reaction and restriction endonuclease technology(PCR-RFLP) methods.Results Using PCR-SSCP method firstly,only the proband with ACH and his father in this family had the same abnormal band.The amplified products including 1 138 loci on FGFR3 gene further was analyzed by Sfe Ⅰ digestion,3 fragments including 164 bp,109 bp and 55 bp were detected in the proband and his father again,and the other members in the family and 2 controls just showed 164 bp band.It indicated that just 2 patients (proband and his father) showed heterozygous G→A transition mutation at nucleotide position 1 138 on the FGFR3 gene.The amplified products at 1 138 loci was also detected by MspⅠ digestion,just 1 band was observed in all members in this family and 2 controls.It showed that there was no G→C substitution at nucleotide position 1 138.Conclusions The G→A transition mutation at nucleotide position 1 138 in transmembrane domain of FGFR3 gene may be the main cause of achondroplasia in this family.In this pedigree,the proband showed's father a de novo mutation which was transferred to his child again.

OBJECTIVE: To analyze the causes of the esophagogastric junction outlet obstruction (EGJOO) patients, to discuss the differences of the clinical manifestation and esophageal motility characteristics between the anatomic EGJOO (A-EGJOO) and functional EGJOO (F-EGJOO) subgroups, and to search the diagnostic values of the specific metrics for differentiating the subgroups of EGJOO patients. METHODS: For the current retrospective study, all the patients who underwent the esophageal high resonance manometry test were retrospectively analyzed from Jan 2012 to Oct 2018 in Peking University Third Hospital. The EGJOO patients were enrolled in the following research. The clinical characteristics, such as symptoms and causes of the patients were studied. Then the patients were divided into two subgroups as A-EGJOO subgroup and F-EGJOO subgroup. The clinical symptoms and the main manometry metrics were compared between these two subgroups. The significant different metrics between the two groups were selected to draw receiver operating characteristic (ROC) curves and the diagnostic values were analyzed in differentiating the A-EGJOO and F-EGJOO subgroups. RESULTS: The most common symptom of EGJOO was chest pain or chest discomfort (30.63%), then the dysphagia (29.73%), and acid regurgitation/heartburn (27.03%). Non-erosive reflux disease (36.04%) was the most popular cause for EGJOO, then the reflux esophagitis (17.12%). Besides the intra-EGJOO and extra-EGJOO lesions, the connective tissue disease (6.31%) and central nervous diseases (2.70%) were found to be the etiology of EGJOO. The causes of the rest 19 EGJOO were unknown. A-EGJOO patients presented significantly higher intra bolus pressure (IBP) than that of F-EGJOO [6.80 (5.20, 9.20) mmHg vs. 5.10 (3.10, 7.60) mmHg, P=0.016]. The area under curve of IBP was 0.637. When IBP≥5.15 mmHg, the sensitivity was 78.60% and specificity 50.70% to differentiate A- or F-EGJOO. CONCLUSION Chest pain or chest discomfort was the most common symptom in EGJOO patients. Besides the intraluminal structural disorders, the extra-luminal causes were found in EGJOO patients. A-EGJOO presented higher IBP than that of F-EGJOO patients. The cutoff value of IBP to differentiate A-EGJOO from EGJOO was 5.15 mmHg with sensitivity 78.06% and specificity 50.70%. However for the low area under curve, the diagnostic value of IBP was limited.
Deglutition Disorders ; Esophageal Motility Disorders/diagnosis* ; Esophagogastric Junction ; Humans ; Manometry ; Retrospective Studies

Objective To observe the prevalence of hyperuricemia(HUA)among obese children,and to ex-plore the association between uric acid(UA)levels and cardiometabolic risk factors,acanthosis nigricans and non - al-cohol fatty liver disease(NAFLD). Methods By using representative sampling method,1 753 obese children aged 6 -17 years old from 18 schools in 3 districts of Beijing(Xicheng,Haidian,Miyun)were selected to participate in the clini-cal examinations,including anthropometric measurements(height,weight)and blood pressure. Serum biochemical pa-rameters were assessed,including fasting plasma glucose(FPG),total cholesterol(TC),triglyceride(TG),high - densi-ty lipoprotein cholesterol(HDL - C),low - density lipoprotein cholesterol(LDL - C)and UA. Acanthosis nigricans and B - model ultrasonography of the liver were conducted. Results The prevalence of hypertension,impaired fasting glu-cose,dyslipidemia,acanthosis nigricans,and NAFLD among these 1 753 obese children was 33. 6%(589 cases), 66. 5%(1 156 cases),54. 3%(943 cases),23. 3%(408 cases),and 17. 0%(298 cases),respectively. The preva-lence of HUA was 40. 70%(714 / 1 753 cases),with 50. 17%(581 / 1 158 cases)in boys and 22. 34%(133 / 595 ca-ses)in girls. There was a significant increase in body mass index,systolic blood pressure,diastolic blood pressure, FPG,TG and LDL - C with the increase of UA,but there was a decrease in HLD - C with the increase of UA(all P ﹤0. 05). In boys,the adjusted odds ratios( OR)and 95% CI of the highest quartile of UA for hypertension,impaired fasting glucose,dyslipidemia,acanthosis nigricans,and NAFLD were 1. 16(0. 77 - 1. 74),1. 34(0. 90 - 1. 99),1. 29 (0. 89 - 1. 87),1. 89(1. 17 - 3. 04),and 1. 71(1. 03 - 2. 84),respectively;in girls,the adjusted OR and 95% CI of the highest quartile of UA for hypertension,impaired fas-ting glucose,dyslipidemia,acanthosis nigricans,and NAFLD was 0. 70(0. 40 - 1. 24),0. 60(0. 40 - 1. 00),1. 69(1. 04 - 2. 70),1. 67(0. 80 - 3. 49),and 1. 33(0. 48 - 3. 66),re-spectively. Conclusions The prevalence of HUA is relatively high in obese children and there is a strong association between UA and some car-diovascular metabolic disorders,acanthosis nigricans and NAFLD.

OBJECTIVETo evaluate the changes in the concentrations of five components in Fructus Evodiae used in Chinese medicine, including evodiamine and glycyrrhizic acid, during processing of Fructus Evodiae with Radix Glycyrrhizae extract by using high performance liquid chromatography (HPLC) and to provide a scientific basis for different clinical uses of processed and unprocessed Fructus Evodiae.

METHODSThe concentrations of the Fructus Evodiae components in processed or unprocessed Fructus Evodiae were evaluated by HPLC using a YMC J'sphere ODS-H80 column (4.6 mm×250 mm, 5 μm) with acetonitrile-water-tetrahydrofuran-acetic acid (41:59:1:0.2, v/v/v/v) as the mobile phase. The detection wavelength was 225 nm, the column temperature was 35°C, the flow rate was 1.0 mL/min, and the injection volume was 10 μL. The concentrations of the Radix Glycyrrhizae components were determined by HPLC with a Kromasil-C₁₈ column (4.6 mm×250 mm, 4 μm) and a gradient elution of acetonitrile (A) and 0.05% aqueous phosphoric acid (B) as the mobile phase. The detection wavelength was 237 nm, the column temperature was 35 °C, the flow rate was 1.0 mL/min, and the injection volume was 10 μL.

RESULTSThe calibration curves of evodia lactone, evodiamine, rutaecarpine, liquiritin, and glycyrrhizin showed good linear relationships (r>0.99). The recoveries of evodia lactone, evodiamine, rutaecarpine, liquiritin, and glycyrrhizin were 96.59%, 104.18%, 101.91%, 97.75%, and 97.95%, respectively. The concentrations of the components in processed Fructus Evodiae were obviously different to those in unprocessed Fructus Evodiae.

CONCLUSIONSThe developed method is rapid and accurate. The results provide a reference for processed Fructus Evodiae and the changes that could be expected in its effects compared to unprocessed Fructus Evodiae.

Calibration ; Chromatography, High Pressure Liquid ; Cooking ; Drugs, Chinese Herbal ; analysis ; Evodia ; chemistry ; Glycyrrhiza uralensis ; Plant Extracts ; analysis ; Reference Standards ; Solutions

Objective To investigated the effect of TangNaiKang (TNK) on VEGF protein expression of GK rats Thoracic aorta. Methods 51 male GK rats were divided into five groups randomly: model group, pioglitazone group, and TNK treatment group (low, immediate and high dose). Another 10 male Wistar rats were served as normal control group. GK rats were fed with high-grease forage, while normal control group was fed with a standard diet. Fasting blood glucose, general HE staining and VEGF protein expression were detected by immunohistochemistry. Results The fasting glucose had a significant decline in TNK treatment groups. HE staining showing TNK can ameliorate intima thickness, reduce hyperplasia of shallow vascular smooth muscle cell, and improve wavy and plexiform arrangement of elastic lamina. Immunohistochemistry also showed that TNK decreased VEGF protein expression of great vessels. Conclusion TangNaiKang can prevent and cure diabetic vascular complication of GK rats.

Objective To investigate the spatial-temporal distribution characteristics of varicella outbreak in Jiading District in Shanghai from 2015 to 2018. Methods Varicella epidemic report data was collected from the national system of disease control and prevention and analyzed by spatial-temporal scanning statistic methods. Results There were 5 889 varicella cases reported from the year 2015 to 2018, and the annual average incidence rate was 91.68 per 100 000.The incidence rate for children below 3 years old was found to be the highest, reaching 621.45 per 100 000, which was significantly higher than that for the group of 18 years old and above (χ²=16 616.788, P < 0.001).There were 5.41% and 5.31% of the cases in September and February, respectively, which were lower than other months, and the peak incidence occurred in December and November, accounting for 13.41% and 11.95%, respectively.The highest and lowest incidence rates were 151.80 per 100 000 occurring in central urban area and 59.89 per 100 000 in rural area, respectively.The spatial-temporal scanning showed that the low population density area had a wide cluster range and a low effect value.The high population density area has small cluster range and high effect value. Conclusion The incidence of vanicella presents a trend of population, seasonal and regional clustering.Therefore, targeted measure should be taken to prevent varicella in focus population.

Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis(amniocentesis and eordocentesis), and the procedure-related complications. Metheds A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis (1082 amniocentesis and 182 eordocentesis), and the procedure-related complications were reviewed. Results The indications for invasive prenatal diagnosis in these 1264 women were: increased risk at prenatal screening (651, 51.5%), advanced maternal age (≥35) (318, 25.2%), abnormal foundings through uhrasonograph (136, 10.8%),history of adverse pregnancy (88, 6.9%), one or two abnormal serologic markers (52,4.1%), and chromosomal balance translocation carrier in either one of the couple(19, 1.5%). Thirty-seven cases were found to be chromosomal abnormalities with clinic significance and the indications for them were: ultrasonic abnormality (20/136, 14.7%); increased risk at prenatal screening (12/651, 1.8%); one or two abnormal serologic markers (1/52, 1.9%); history of adverse-pregnant (1/88, 1.1%)chromosomal balance translocation carrier in either one of the couple (3/19, 15.8%); advanced maternal age (0/318). Among the 1264 cases, 5 experienced spontaneous abortion and the procedure-related fetal loss rates were 0.28% for amniocentesis (3/1082) and 1.09% for cordocentesis (2/182), P=0. 154. The rate of complications after cordocentesis was significantly higher than amniocentesis (9.89 % vs 0.18 %, P= 0.0001). Conclusions Routine fetal karyotyping should be prompted after prenatal ultrasonographic abnormalities. However, invasive prenatal diagnosis due to advanced maternal age alone is controversial. Amniocentesis is the fist choice for invasive prenatal diagnosis.

Aged ; Female ; Humans ; Male ; Middle Aged ; Multiple Myeloma ; diagnosis ; immunology ; Prognosis ; T-Lymphocyte Subsets ; immunology

OBJECTIVETo investigate the effects of benzo[a]pyrene (B[a]P) exposure on the behaviors and hippocampal oxidative stress and ATPase in rats and the molecular mechanism of neurobehavioral toxicity of B[a]P.

METHODSA total of 120 male SD rats (21 days old) were randomly and equally assigned to five groups: blank control group, vegetable oil (solvent control) group, and 2.5, 5, and 10 mg/kg B[a]P exposure groups. The rats in B[a]P exposure groups were injected intraperitoneally with B[a]P once a day for 4 consecutive weeks. Then, Morris water maze and shuttle box were used to evaluate the learning and memory abilities of rats; colorimetric assay was used to measure the activities of superoxide dismutase (SOD), Na(+)/K(+)-ATPase, and Ca(2+)/Mg(2+)-ATPase and the content of malonaldehyde (MDA) in the hippocampus; the concentration of Ca(2+) in the hippocampus was measured by fluorescent labeling.

RESULTSCompared with the blank control group and solvent control group, the B[a]P exposure groups exhibited significant increases in escape latency, active avoidance response latency, and passive avoidance response latency and significant decreases in number of platform crossings and active avoidance response frequency in the last test (P < 0.05 for all comparisons), with a dose-effect relationship. In addition, the B[a]P exposure groups had significantly lower activities of SOD, Na(+)/K(+)-AT-Pase, and Ca(2+)/Mg(2+)-ATPase and significantly higher MDA level and Ca(2+) concentration than the blank control group and solvent control group (P < 0.05 for all comparisons), with a dose-effect relationship.

CONCLUSIONThe neurobehavioral toxicity of B[a]P may be related to increased oxidative stress and decreased activities of Na(+)/K(+)-ATPase and Ca(2+)/Mg(2+)-ATPase in the hippocampus of rats.

Animals ; Benzo(a)pyrene ; toxicity ; Ca(2+) Mg(2+)-ATPase ; metabolism ; Hippocampus ; drug effects ; metabolism ; Male ; Oxidative Stress ; drug effects ; Rats ; Rats, Sprague-Dawley ; Sodium-Potassium-Exchanging ATPase ; metabolism ; Superoxide Dismutase ; metabolism

This paper introduced the work principle, execution, use and major characteristics of the remote hydraulic pressure control injection. Using Pascal principle, it is more accurate, convenient, cheap and safe. It could be used in all the fields of the medicine.
Equipment Design ; Injections ; Telemedicine ; instrumentation