Two patients with coexistence of thyroid disease and suspected Gitelman's syndrome underwent SLC12A3 gene analysis. The results confirmed that both patients were compound heterozygotes of SLC12A3 gene mutation. Three novel variants of SLC12A3 were found in this study. This report suggests that Gitelman's syndrome may coexist with other disorders associated with hypokalemia, such as Graves' disease.

TA method for the content determination of methionine sulfoxide and methionine sulfone in compound amino acid injection (18AA-II) was established in order to investigate their level in 155 batches of this product, and to explore the reason for the generation of these two impurities.The determination was performed on an Agilent Poroshell 120 EC-C18 column with mobile phases of sodium acetate/tetrahydrofuran solution (A) and sodium acetate solution -acetonitrile-methanol (B, 200∶400∶400) (gradient elution) at the flow rate of 0.5 mL/min.The excitation wavelength and the emission wavelength of the fluorescence detector were 233 nm and 441 nm, respectively.The column temperature was 40 °C, and the injection volume was 8 μL.The contents of methionine sulfoxide and methionine sulfone from 155 batches of compound amino acid injection (18AA-II) was determined using this method, and the residual oxygen content was detected by headspace gas analyzer.The results showed that the linear range of methionine sulfoxide and methionine sulfone were 0.128 1-10.250 0 μg/mL (r = 0.999 9) and 0.261 0-10.440 0 μg/mL (r = 0.999 8), respectively.The limits of quantitation were 0.13 μg/mL and 0.26 μg/mL, respectively; the limits of detection were 0.04 μg/mL and 0.09 μg/mL, respectively.RSDs of precision, stability and repetitive test were all lower than 1.3%.The recoveries ranged 98.00%-100.79% (RSD = 1.15%, n = 9) and 98.19%-102.31% (RSD = 1.33%, n = 9).The content level of oxidized related substances from different manufacturers showed significant difference, showing relevance with the residual oxygen content to some extent, yet no significant correlation with the added amount of antioxygen (sodium pyrosulfite).The method is validated to be useful for the content control of methionine sulfoxide and methionine sulfone in compound amino acid injection (18AA-II).It is quite necessary to include the determination of oxidized related substance into the quality specification.Manufacturers should strengthen the control of remaining oxygen in their products.

Objective To study the relationships between serum uric acid levels in adult male patients with the risk factors of metabolic syndrome and insulin resistance.Methods In the persons undergone health check up in General Hospital of PLA in 2006,blood pressure(BP),body mass index(BMI),waistline,total and HDL cholesterol,serum triglycerides,fasting blood glucose(FBG),serum creatine(Cr)and uric acid(SUA)concentrations were measured.To the subjects without diabetes mellitus,75g oral glucose tolerance test(75g-OGTT)was given.Comparison was made on the components of MS between high SUA group(HUA)and normal SUA group(NUA).Logistic regression analysis was made to examine the relationship between UA and the symptom components of MS.The subjects without diabetes mellitus were then divided into 4 groups according to SUA levels,and then the relationships were analyzed between the levels of symptom components and the prevalence of MS among the different SUA groups.Results The mean age of the 1399 adult males was 56.3 ? 21.0 years.Among them the patients with hyperuricemia accounted for 14.37%.The levels of BMI,waistline,triglyceride,low density lipoprotein cholesterol,FBG,post prandial blood glucose(PBG),SBP and DBP were higher in HUA than that in NUA,while the HDL-C was lower.The incidence of MS in HUA group was higher with an increased SUA level compared with that in NUA group(P

Brain ; blood supply ; Fetus ; blood supply ; Heart Defects, Congenital ; diagnostic imaging ; Humans ; Infant, Newborn ; Middle Cerebral Artery ; diagnostic imaging ; Ultrasonography, Doppler, Color ; Ultrasonography, Prenatal

Objective To monitor the activities of orbicularis oculi muscle by analyzing the electroneurogram (ENG) of its innervating nerve. Methods The ENG was recorded in vivo by a cuff electrode implanted around a dog’s zygomatic branch of facial nerve. The differences between the ENG during relaxing period of the orbicularis oculi muscle and during the constricting period were analyzed to explore a way to monitor the muscle activities. Results The ENG signals indicating occurrences of eye blinking events were extracted in the study. Time-frequency analysis showed that there was no ENG difference when the orbicularis oculi muscle was in relaxing periods no mater whether it was in the nature eye-opening period or in the interval of eye blinking. The ENG of orbicularis oculi muscle in constricting period was different from the ENG in relaxing period at amplitude and frequency. Conclusion It is feasible to monitor the orbicularis oculi muscle activities by ENG analysis.

Adult ; Female ; Humans ; Laryngeal Neoplasms ; complications ; Neurilemmoma ; complications ; Neurofibromatosis 2 ; complications

Objective To investigate the relationship of urinary vascular endothelial growth factor (VEGF) and occurrence and invasiveness of bladder cancer. Method The expression of urinary VEGF in 48 patients with bladder cancer (bladder cancer group) and 45 normal cases (control group) were examined by ELISA immunohistochemical staining. Results VEGF levels in urine in bladder cancer group [(174.77±83.41) μg/L] were higher statistically than those in control group [(63.53 ±22.62) μg/L] (P < 0.01), and related to the staging and grading of tumors. VEGF levels were significant higher in invasive lesions [(223.00 ± 83.13) μg/L] than those in superficial ones [(130.40 ± 54.86) μg/L] (P < 0.01). VEGF levels of G3 [(259.23 ± 75.82) μg/L] were significant higher compared with G1 [(138.00± 85.60) μ g/L] and G2 [(146.22 ±47.53) μ g/L] (P < 0.01). Conclusion The concentration of urinary VEGF relates to the clinical staging and pathological grading, and it is a labeling index of the biological behavior of bladder cancer.

Objective To investigate the application value of combined detection of antikeratin (AKA) antibody,anti-cyclic citrullinated peptide(anti-CCP) antibody,anti-RA33 antibody,RF and ESR in the diagnosis of rheumatoid arthritis(RA).Methods One hundred cases of RA and 60 cases of suspected RA in our hospital from June 2014 to May 2015 were collected.One hundred and twenty cases of non-RA other autoimmune diseases served as the control group.The indirect immunofluorescence assay (IFA) was used to detect anti-KA antibody,anti-CCP antibody and anti-RA33 antibody were detected by using ELISA.The rate scatter turbid assay was used to detect RF.The Westergren method was used to detect ESR.The diagnostic performance of each diagnostic indicator was evaluated.Results The detection rates of anti-KA antibody,anti-CCP antibody,anti-RA33 antibody,RF and ESR in the RA group were in turn 64%,75%,44%,84% and 51% respectively,the detection rate(sensitivity) of 5-indicator parallel detection were 97%, the specificity of 5-indicator series detection was 89.2%;in the suspected RA group,the detection rates of 5-indicator were in turn 16.7%, 31.7%,13.3%,20%,15% respectively,which in the control group were in turn 0.8%,2.5%,1.7%,0.8% and 5.8% respectively.The detection rates of 5-indicator in the RA group was significantly higher than that in the suspected RA group,showing extremely significant difference (P<0.001),the detection rate of 5-indicator had extremely significant difference between the suspected RA group and control group (P<0.001),the sensitivity of five-indicator parallel detection was 97%,which was significantly higher than that of single indicator detection (P<0.05),the detection specificity of 5-indicator series detection was up to 100%,which was also significantly higher than that of single indicator detection (P<0.05),the missed diagnosis rate of parallel detection was minimal,while the negative predictive value was highest,the misdiagnosis rate of series detection was lowest,the positive predictive value was highest,the Youden index of parallel detection was largest.Conclusion The single detection of anti-CCP antibody and RF have good sensitivity and specificity, but 5-indicator combined detection has higher sensitivity and specificity,which can better reduce the missed diagnosis rate and misdiagnosis rate,can greatly improve the efficiency of diagnosis,and has an important clinical significance for the early diagnosis of RA.

Objective To establish a model of asthma mice with spleen-deficiency syndrome (asthma-SDS) and to investigate the effects of Cryptoporus volvatus ferment substance (CVFS) on the airway hyperresponsiveness and inflammation in model mice. Methods An asthma-SDS model of mice was established by ovalbumin (OVA)-sensitized plus over-eating and over-exerting. The changes of lung resistance (R_L), inflammatory cells in bronchoalveolar lavage fluid (BALF), lung tissue pathology, and spleen index were observed. Results Compared with the simple asthma model of mice, the airway hyperresponsiveness, eosinophils number in the BALF, lung tissue pathology, and spleen index in the asthma-SDS model of mice showed a significant difference (P

Objective To analyze the psychometric properties of the Fine Motor Function Measure Scale (FMFM) with cerebral palsied children less than 3 years old. Methods Three hundred and seventy-five children less than 3 years old with cerebral palsy were involved. The test-retest reliability, inter-tester reliability, correlation validity and structural validity of the FMFM were analyzed, as well as the responsiveness. Results The test-retest reliability (ICC = 0. 983 3 ) and the inter-tester reliability (ICC = 0. 992 4) of the FMFM were satisfactory. The correlation index between the raw FMFM scores and scores on the Peabody Developmental Motor Scale——Fine Motor was 0.919 9. The FMFM could clearly distinguish differences in fine motor function between the affected side and the intact side in children with hemiplegia. The differences in fine motor function between children with diplegia and quadriplegia could also be distinguished by the FMFM. The effect size of this scale was also good. Conclusion The reliability, validity and responsiveness of the FMFM were satisfying. The fine motor functioning of children with cerebral palsy could be effectively measured using the FMFM scale.