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

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.

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

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 clinical and imaging features of von Hippel-Lindau disease to raise awareness of the disease. Methods The clinical and imaging data of a case of VHL patient were analyzed retrospectively and discussed with relative literature review. The patient was a 50-year-old man, who was admitted with the chief complaints of painless gross hematuria and blurred vision for 5 months. Imaging data and ophthalmoscopy examination showed bilateral multiple renal tumors, renal cysts, pancreatic cysts, hepatic cysts and retinal angioma in his right eye. He suffered a surgical operation for his cerebellar hemangioblastoma 12 years ago without family history. Results The patient underwent nephron- sparing surgery (NSS) in the left kidney. Five renal tumors were removed, and the largest tumor was 3.5 cm× 3.5 cm. Postoperative oral administration of Sorafenib agents was applied. Followed up for 4 months, the renal function was normal and the right kidney tumor reduced. Pathology confirmed the diagnosis of multiple renal clear cell carcinoma. Conclusions VHL disease is a familial autosomal dominant hereditary syndrome, with the performance of hemangioblastorna in central nervous system, visceral tumors and multiple visceral cysts. Comprehensive imaging examination plays a major role in both the diagnosis and the follow-up of VHL disease.

BackgroundThe research of corneal thickness after pars plana vitrectomy in DM patient plays an important role not only theoretically but clinically.Objective Present study was to evaluate the change in corneal thickness after pars plana vitrectomy.Methods A prospective coherent study was designed.Seventy-five eyes of 70 consecutive diabetic retinopathy(DR) patients were collected in Tianjin Medical University Eye Center.Pentacam was used to assess the central and periphery corneal thickness by the same investigator preoperatively and 7 days,1 and 3 months postoperatively,respectively.The thickness values from five corneal zone were obtained,including cornea vertex,the thinnest point of the cornea,periphery cornea near the scleral incision of 4 mm away to vertex of cornea on vertical and 240°,120°,60° meridian ( right eye) or 300°,120°,60° meidian ( left eye ).These results were compared and analyzed with ANOVA of repeated measurement data.Subgroup analysis was performed to evaluate the influence of different corneal positions,the use of conventional 20g or 23g transconjunctival sutureless vitrectomy(TSV) groups,surgery duration,gas or fluid endotamponde on corneal thickness.This study was approved by Ethic Committee of this hospital.Written informed consent was obtained from the subjects before any relative medical procedure.Results The mean corneal thickness was ( 639.9 ± 103.1 ),( 689.5 ± 119.3 ),( 666.5 ±113.7),( 650.8 ± 108.6 ) μm before operation,postperative 7 days,1 and 3 months respectively.As covariates appearing in the model,the corneal thickness change rates were revised as the parameters as following: diabeitc duration =13.0 and age =57.2.The revised corneal thickness was significant different among various time points( F=210.928,P=0.000) and different corneal zones(F=24.843,P=0.000) with the size order in turn P4＞P3＞P1＞P2＞P5.The corneal thickness change rates were less in 23g TSV group compared with conventional 20-g group (F =53.843,P =0.000) and BSS tamponade group compared with gas tamponade group ( F =5.288,P =0.022).But no significant difference was found in the revised corneal thickness among surgery duration ＜ 1 hour group,1-2 hour group and ＞2 hour group( F=1.233,P =0.293).ConclusionsVitrectomy is a safe procedure on the ground of cornea,but TSV and fluid endotamponade appear to be more beneficial to the protection of cornea.Pentacam could offer the reliable data in not only central cornea but also periphery cornea.

Objective To find out the detection level of the blood routine test in clinical laboratories of basic medical institutions in Hefei ,and to analyze the results of inter‐laboratory comparison among township health centers and community health service cen‐ters in Hefei and explore the main factors .Methods Forty‐three township health centers and community health service centers were randomly selected to conduct field investigations and take blood routine test inter‐laboratory comparison .Results Both 41 .9% of the passing rate and the average score 72 .37 points in Inter‐laboratory comparisons were significantly lower than the An‐hui province clinical inspection center(94 .1% and 95 .97 points) ,the differences were statistically significant(P<0 .05);Comparing to the results of the Anhui province clinical inspection center ,there was statistically significant difference on parameter(WBC ,RBC , Hb ,HCT ,PLT) average pass rate of blood routine test(P<0 .05);the personnel primary education was low ,18 .80% of the staff in clinical laboratories were not professionals ;most of blood analyzers were domestic and 53 .49% of all instruments had been used for more than 5 years;the overall laboratory quality management level was low .Conclusion The blood routine test detection level in clinical laboratories of basic medical institutions in Hefei was far below than that of secondary and tertiary medical institutions .The daily laboratory internal quality control should be strengthened and the quality management system should be improved gradually .