[Value of sweat conductivity testing in the diagnosis of cystic fibrosis in children].

Objective: To assess the diagnostic value of sweat conductivity testing in Chinese children with cystic fibrosis (CF). Methods: This is a retrospective study. Sweat conductivity tests were conducted in 45 CF children (CF group) and 200 non-CF children (non-CF group) diagnosed with other chronic pulmonary diseases at the No. 2 Department of Respiratory Medicine, Beijing Children's Hospital from May 2014 to June 2018. Pearson's chi-square test was used to assess the differences between CF and non-CF groups. A receiver operating characteristic curve was constructed to calculate the best cut-off value to diagnose or rule out CF. The pulmonary function parameters (forced expiratory volume in the first second, forced vital capacity,forced expiratory flows at 75% of exhaled vital capacity) of CF children over 6 years old were analyzed. The relationship between sweat conductivity and pulmonary function was compared between the two groups (80-120mmol/L vs.>120mmol/L). Results: The age of CF group was 9 (7,12) years old, 19 males (42%) and 26 females(58%); the age of non-CF group was 8 (5,11) years old, 106 males (53%) and 94 females(47%). The results of sweat conductivity test showed that sweat conductivity in CF group 108(99, 122) mmol/L was significantly higher than that in non-CF group 43(36, 52) mmol/L (χ(2)=207, P<0.01). A cut-off value of 80 mmol/L for CF diagnosis showed a sensitivity of 93.3% and a specificity of 98.5%. The receiver operating characteristic curve analysis suggested the best conductivity cut-off value for the diagnosis of CF was at 83.5 mmol/L,with a sensitivity of 93.3% and a specificity of 100%,and an area under the curve of 0.993 (95% confidence interval 0.985-1.000). The best conductivity cut-off value to rule out CF diagnosis was at 63.5 mmol/L,with a sensitivity of 97.8% and a specificity of 90.5%. There was no correlation between the level of sweat conductivity and the extent of pulmonary function decline. Conclusions: Sweat conductivity testing can be used for the screening of CF in Chinese children. A diagnosis of CF should be considered if the value is greater than 80 mmol/L.

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.

Auditory neuropathy spectrum disorder (ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants and young children. The OTOF gene is the first gene identified for autosomal recessive non-syndromic ANSD, and patients with OTOF mutations have shown marked improvement of auditory functions from the cochlear implantation, but the true involvement of OTOF mutations in Chinese ANSD patients is still unknown which precludes the effective management of this disease. Here, we investigated the contribution of OTOF mutations to congenital ANSD patients in China. In all, 37 infants and young Children with ANSD were screened for all the exons of OTOF gene, of them 34 patients had no neonatal risk factors who were considered as congenital ANSD. The clinical manifestation and audiometric features were also investigated and compared in patients with and without OTOF mutations. In all, 14 of these subjects were shown to carry two or three mutant alleles of OTOF with the high frequency of 41.2% in congenital ANSD patients. In total, 15 novel pathogenic mutations and 10 reported mutations were identified. Our results confirmed that mutations in OTOF gene were a major cause of congenital ANSD in China. Identification of OTOF mutations can facilitate diagnosis, clinical intervention and counseling for congenital ANSD.

[Characteristics of tinnitus related to idiopathic suddensensorineural hearing loss in 272 patients].

Objective:To investigate the characteristics of sudden sensorineural hearing loss (SSHL) patients with tinnitus.Method:Two-hundred and seventy two SSHL patients with tinnitus underwent evalution through Tinnitus Handicap Inventory(THI) and Tinnitus Questionnaire(TQ).Demographic data and tinnitus characteristics were analyzed.Result:In 272 patients,41.6% of patients suffered from low frequency tinnitus,2.0% with medium frequency tinnitus,56.4% with high frequency tinnitus.There were 79% patients whose tinnitus were continous,while 21% were intermittent;From the view point of daily life compromising,37.4% were minor,44.8% were moderate,17.8% were serious.The most important factors that deteriorate tinnitus were bad sleep,noise,life pressure and tiredness.Conclusion:There were individual differences among patients with sudden deafness and tinnitus.Enough evaluation should be made to decrease the infection of tinnitus.

Predictive value of plasma galectin-3 in patients with chronic heart failure.

AIM: To study the predictive value of plasma galectin-3 in patients with chronic heart failure (CHF). MATERIALS AND METHODS: Patients with CHF (New York Heart Association functional class II-IV) caused by coronary heart disease were recruited. The levels of plasma galectin-3 and NT-proBNP were measured by enzyme-linked immuno sorbent assay. Echocardiography was performed to determine the diastolic left atrial diameter (LAD), left ventricular end-diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF). Receiver-operating characteristic (ROC) curve was used to analyze the prognostic value of galectin-3 or NT-proBNP for CHF. RESULTS: The level of galectin-3 was significantly higher in NYHA functional class III and IV compared with that in control (p < 0.05 and p < 0.01, respectively). The level of plasma galectin-3 was positively correlated with LAD (r = 0.271, p < 0.05) and LVEDD (r = 0.480, p < 0.01), but negatively correlated with LVEF (r = -0.683, p < 0.01). The level of plasma NT-proBNP was positively correlated with LAD (r = 0.481, p < 0.01) and LVEDD (r = 0.270, p < 0.05), but negatively correlated with LVEF (r = -0.516, p < 0.01). AUC was 0.798 when the level of plasma galectin-3 was more than 7.52 ng/ml. The sensitivity to predict CHF was 62.9%, and the specificity was 90%. AUC was 0.901 when the level of plasma NT-proBNP was more than 1143 pg/ml. The sensitivity to predict CHF was 92.8% and the specificity was 85%. CONCLUSIONS: The level of plasma galectin-3 is related to the changes of left ventricular structure and function, indicating that galectin-3 may have been involved in the process of left ventricular remodeling in CHF. The specificity of galectin-3 to predict CHF is higher than NT-proBNP, but not the sensitivity.

Left atrial diameter, flow-mediated dilation of brachial artery and target organ damage in Chinese patients with hypertension.

To investigate the relationship between left atrial (LA) size, endothelial dysfunction and different markers of target organ damage (TOD), we measured left atrial diameter (LAD) and endothelial function in hypertensive patients with or without TOD. In this study, 197 patients with hypertension were divided into four groups as follows: no TOD (Group I, n=40), one TOD (Group II, n=76), two TOD (Group III, n=46) and ≥3 TOD (Group IV, n=35). Endothelial function was assessed by endothelium-dependent vasodilatation (flow-mediated dilation, FMD) of the brachial artery. We also assessed serum creatinine, the urinary albumin-creatinine ratio (UACR), the intima-media thickness (IMT) of the common carotid, carotid to femoral pulse wave velocity (cf-PWV) and left ventricular mass index (LVMI). Our results were as follows: LA size was increased in 50.8% of patients and was associated with the number of TOD. LAD was larger in the patient groups with ≥3 TOD as compared with patients with two TOD, one TOD and no TOD. FMD was lower in patients with LAD enlargement. LAD exhibited significant relationships with serum creatinine, UACR, cf-PWV, IMT and LVMI. In stepwise multivariate regression analysis, LVMI (ß=0.37, P<0.001), BMI (ß=0.33, P<0.001), duration of hypertension (ß=0.20, P=0.001) and FMD (ß=-0.17, P=0.006) were the independent predictors of LAD. FMD significantly correlated with LAD (ß=-0.26, P=0.001), male sex (ß=-0.23, P=0.004) and pulse pressure (PP) (ß=-0.16, P<0.05). In conclusions, enlargement of LAD may be an important predictor of endothelial dysfunction and may be considered to be an indicator for evaluating TOD in hypertensive patients.

Prothrombotic phenotype of protein Z deficiency.

Protein Z (PZ) is a vitamin K-dependent plasma protein whose function has been uncertain. The structure of PZ is very similar to that of the coagulation-related factors VII, IX, and X and PC, but PZ differs from these other proteins in that it is not the zymogen of a serine protease. We have shown recently that PZ forms a calcium ion-dependent complex with activated factor X at phospholipid surfaces and that this interaction leads to the inhibition of activated factor X activity through, in part, the action of a previously unidentified plasma protein named PZ-dependent protease inhibitor. Herein, we report that the presence of PZ dampens the coagulation response in human plasma and that concomitant PZ deficiency dramatically increases the severity of the prothrombotic phenotype of factor V(Leiden) mice. The results indicate that PZ plays a physiologically important role in the regulation of coagulation.

[The prognostic value of focusylated alpha-fetoprotein measurement in liver cancer patients after surgery].

Postoperative change of focusylation index (FI) of serum alpha-fetoprotein (F-AFP) and the result of surgery were studied in 34 patients of hepatocellular carcinoma. In 23 patients, serum F-AFP was disappeared with serum AFP turning negative and no tumor recurrence heppaned within the first 6 months postoperatively. In 4 patients, owing to hepatitis or active cirrohosis in the remained liver, serum AFP didn't turn negative, but FI of AFP was obviously decreased, follow-up found no signs of tumor recurrence within the first 6 months. In 5 of 7 patients, with decreased postoperative serum AFP levels and unchanged FI, tumor recurred. These results showed that postoperative F-AFP monitoring is helpful in evaluating surgical efficacy in liver tumor producing AFP.

Alpha-fetoprotein reaction to Pisum sativum agglutinin in differentiation of benign liver diseases from hepatocellular carcinoma.

Alpha-fetoprotein reactive to Pisum sativum agglutinin levels (AFP-R-PSA) was measured in sera from 124 patients with hepatocellular carcinoma (HCC) and 54 patients with benign liver diseases (BLD). The level of AFP-R-PSA in the HCC group (42% +/- 22%) was significantly higher than that in the BLD group (10% +/- 8%). When an AFP-R-PSA level above 25% was used as a value highly suggestive of HCC, the sensitivity of the test was 82%, the specificity was 96%, the accuracy was 86%, and the positive prediction value was 98%. The positive rates of AFP-R-PSA in HCC patients with a serum AFP level below 100 micrograms/L and with a serum AFP level below 400 micrograms/L were 78% and 84%, respectively. Corresponding value was 74% for 31 patients with a tumor size less than 5cm. If AFP was combined with AFP-R-PSA, the detection rate of small HCC in this study would be increased from 32% to 87%. These data indicate that measurement of AFP-R-PSA is useful for the differentiation of BLD and for the early diagnosis of HCC.

[The experimental research of acupuncture and moxibustion in preventing mice benzene poisoning].

Benzene is one of the commonest toxicant in occupational diseases. The experimental design is based on the efficacy of treatment of mice benzene poisoning by means of acupuncture and moxibustion. The experiment divides into 4 groups and 20 female mice in each. (1) The control group. (2) The toxic group: mice are injected with 0.5 ml/kg of pure benzene, Hi qod, 4 times. (3) The preventing groups: mice are prevented with acupuncture or moxibustion during poisoning, and take points "Dazhui", "Mingmen", qod 4 times. Experimental results: (1) Leucocyte counts and myeloid cell counts of the toxic group are lower than those of the control group (P less than 0.01), myeloid cell chromosomal aberration (MCCA) percentages are higher than those of (P less than 0.01) and vacuoles are found in polymorphonuclear cells. (2) The results of the preventing groups are all in normal values. It suggests that acupuncture or moxibustion is well effective in preventing mice benzene poisoning.