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Lv H.,Beijing University Third Hospital | Lv H.,Peoples Hospital of Beijing University
G3 (Bethesda, Md.) | Year: 2014

Congenital cataracts are a significant cause of visual impairment or blindness in children. One-third of cases estimated to have a genetic cause. We carried out gene analysis and bioinformatics analysis to map the locus and to identify the underlying genetic defect in a 12-member, four-generation Chinese family affected with bilateral congenital cataracts. We screened individuals of the family and discovered a distinct missense mutation in HSF4 (a gene at this locus that encodes teat-shock transcription factor 4). Bioinformatics analysis was used to determine possible changes in the protein structure that could affect the phenotype. Sequencing of the candidate genes showed a heterozygous c.69 G→T change in the heat shock transcription factor 4 (HSF4) gene, which resulted in the substitution of a lysine with an asparagine (p. K23N). This mutation cosegregated with all affected individuals and was not observed in unaffected family members. Bioinformatics analysis indicated that the p. K23N mutation was predicted to be disease causing. This is the first report of the novel missense mutation, c.69 G→T (p. K23N), in exon 3 of the HSF4 locus on 16q21-q22 associated with bilateral congenital cataracts in a Chinese family. This novel mutation could enable propergenetic diagnostics and counseling in affected families and could lead to a better understanding of the structure and function of HSF4 in health and disease. Copyright © 2014 Lv et al.


Zhang J.,Beijing University Third Hospital | Li Z.,Email
Zhonghua er ke za zhi. Chinese journal of pediatrics | Year: 2014

To evaluate the clinical application of 24-hour esophageal multichannel intraluminal impedance-pH monitoring technique in preterm infants. This study enrolled 28 preterm (male 20, female 8) infants with symptoms suggestive of gastroesophageal reflux (GER) (frequent regurgitations, apnea, or transcutaneous oxygen saturation decreased). They had postmenstrual age from 26 to 32 weeks, median (28.9 ± 1.9)weeks, had birth weight from 850 to 1 700 g, median (1 250.4 ± 272.8)g, range 850-1700 g, and were studied at corrected gestational age from 28 to 40 weeks, median (34.5 ± 2.3)weeks. Combined measurement of esophageal pH and impedance was performed. The 24-hour pH-impedance recording was uploaded onto a portable storage card and for computer-assisted manual analysis, using a specialized software program. When values were distributed normally, they were presented as mean and standard deviation, compared using t test. When values were not distributed normally, they were presented as median, minimum and maximum. Median values were compared using the Mann-Whitney U non-parametric test. SPSS 17.0 software was used. In 28 preterm infants, 71.4% (20/28) had pathological acid refluxes with pH monitor, while 100% with combined measurement of esophageal pH and impedance. Gestational age, birth weight, corrected gestational age had no association with acid GER. Frequent regurgitations, apnea, or transcutaneous oxygen saturation decreased but there was no statistically significant difference between acid GER group and non-acid GER group. Eight cases had no pathological acid refluxes, but showed an increase of weakly acid refluxes than pathological acid refluxes group (P < 0.01) . The median number of reflux events in 24 hours for 28 cases was 64.5 (0-377) , 23.4% were acidic, while 76.4% were weakly acidic; 59.1% were liquid bolus refluxes, while 40.9% were mixed bolus refluxes. The positive ratio of symptoms related index and symptoms association probability were significantly increased combined measurement of esophageal pH and impedance versus pH monitor were used. The 24-hour esophageal impedance-pH monitoring technique was safe and had good tolerance. We confirmed that it detected more weakly acidic refluxes, liquid bolus refluxes, and mixed bolus refluxes. And it provided more evidence for explaining the relationship between GER and clinical manifestation.


PubMed | Beijing University Third Hospital and Email
Type: Journal Article | Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics | Year: 2014

To evaluate the clinical application of 24-hour esophageal multichannel intraluminal impedance-pH monitoring technique in preterm infants.This study enrolled 28 preterm (male 20, female 8) infants with symptoms suggestive of gastroesophageal reflux (GER) (frequent regurgitations, apnea, or transcutaneous oxygen saturation decreased). They had postmenstrual age from 26 to 32 weeks, median (28.9 1.9)weeks, had birth weight from 850 to 1 700 g, median (1 250.4 272.8)g, range 850-1700 g, and were studied at corrected gestational age from 28 to 40 weeks, median (34.5 2.3)weeks. Combined measurement of esophageal pH and impedance was performed. The 24-hour pH-impedance recording was uploaded onto a portable storage card and for computer-assisted manual analysis, using a specialized software program. When values were distributed normally, they were presented as mean and standard deviation, compared using t test. When values were not distributed normally, they were presented as median, minimum and maximum. Median values were compared using the Mann-Whitney U non-parametric test. SPSS 17.0 software was used.In 28 preterm infants, 71.4% (20/28) had pathological acid refluxes with pH monitor, while 100% with combined measurement of esophageal pH and impedance. Gestational age, birth weight, corrected gestational age had no association with acid GER. Frequent regurgitations, apnea, or transcutaneous oxygen saturation decreased but there was no statistically significant difference between acid GER group and non-acid GER group. Eight cases had no pathological acid refluxes, but showed an increase of weakly acid refluxes than pathological acid refluxes group (P < 0.01) . The median number of reflux events in 24 hours for 28 cases was 64.5 (0-377) , 23.4% were acidic, while 76.4% were weakly acidic; 59.1% were liquid bolus refluxes, while 40.9% were mixed bolus refluxes. The positive ratio of symptoms related index and symptoms association probability were significantly increased combined measurement of esophageal pH and impedance versus pH monitor were used.The 24-hour esophageal impedance-pH monitoring technique was safe and had good tolerance. We confirmed that it detected more weakly acidic refluxes, liquid bolus refluxes, and mixed bolus refluxes. And it provided more evidence for explaining the relationship between GER and clinical manifestation.


Xiong G.W.,Beijing University Third Hospital
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji | Year: 2010

To investigate distributional characteristics of mutations of HPV16 upstream regulatory region (URR) and E6 and E7 oncogene in the patients with cervical cancer in Beijing and to explore the potential association between oncogenesis of cervical cancer and HPV variants in this region, cervical cancer tissue from 31 cases with positive HPV16 were subjected to regular DNA extraction procedure. The corresponding primers were then designed to amplify the target sequence of URR, E6 and E7. The PCR products were sequenced and blast analysis against GenBank was carried out to evaluate the gene mutation and identify the phylogenetic branches. Among all the cases studied, URR was found to be the most frequent mutation fragments, followed by E7, and E6 was the most conservative sequence. A total of 8 hot mutation spot was identi-fied, which were URR G7521A (100%), C7435G (96.77%), C24T (45.16%), A7729C (45.16%), G7839A (45.16%), E6 T178G (41.94%), E7 A647G (45.16%), and T846C (45.16%). The most frequent HPV 16 branch was type As (54.84%), followed by type E (45.16%). Our results suggested that the mutations of G7521A, A7729C, G7839A, T178G, T350G, A647G, and G658A were likely to be associated with the enhanced oncogenic potential of HPV16 and oncogenesis of cer-vical cancer. In Beijing area, two major branches of HPV16 were type As and E. This finding provides valuable information for HPV vaccine development and infection treatment. Type As and E variants had different distributions among various ages and clinic stage groups. It might lead to a new explanation for the getting younger trend of cervical cancer.


Tang W.H.,Beijing University Third Hospital
Zhonghua nan ke xue = National journal of andrology | Year: 2013

To compare cell suspension examination with histopathology in detecting spermatozoa in the testicular tissue of non-obstructive azoospermia (NOA) patients, and to investigate the reliability of sperm retrieval and appropriate therapeutic options when the results of the two methods are inconsistent. A total of 1 112 NOA patients underwent testicular sperm extraction (TESE), their testicular tissues subjected to cell suspension examination and histopathology, respectively. The consistency rate of the two methods was 92.63%, with the sperm detection rate of 41.82% and non-sperm detection rate of 50.81%. Sperm were retrieved from 96.0% (24/25) of the patients on the day of oval retrieval, in whom sperm were found in cell suspension examination but not in histopathology. After intracytoplasmic sperm injection (ICSI), pregnancy was achieved in 8 cases (33.33%), abortion occurred in 4 (16.67%), and non-pregnancy in 12 (50.0%). Cell suspension examination combined with histopathology for detecting sperm in the testicular tissue of NOA patients gives instant, accurate, reliable and consistent results, and therefore insures successful sperm retrieval for NOA patients during the IVF cycle. In case of inconsistency between the results of the two methods, cell suspension examination is more helpful for clinical therapeutic option.


Objective: To identify the clinical and laboratory parameters correlating with speed of bacterial growth in culture and independent risk factors of in-hospital mortality in patients with Escherichia coli bacteremia. Methods: This retrospective study was conducted at Beijing University Third Hospital. The medical records and microbiological database of the patients diagnosed as Escherichia coli bacteremia between January 2007 and December 2009 were collected. The parameter of time to positivity (TTP) was used to be a surrogate marker of bacterial growth. Univariate analysis was used to identify relationship between clinical parameters and the speed of bacterial growth. Logistic multivariate analysis was used to identify risk factors of in-hospital mortality. Results: The medical records of 112 patients during the study period were collected, 25 patients died during hospital stay, the overall in-hospital mortality rate was 22.3%. Univariate analysis indicated the rapid-growth (TTP≤7 hours) group (n = 20) had higher incidence of neutropenia (40.0% vs. 15.2%), higher incidence of primary bacteremia (40.0% vs. 18.5%) and higher in-hospital mortality rate (45.0% vs. 17.4%) than those with slow bacterial growth (TTP>7 hours) group (n = 92, all P<0.05). The death group (n = 25) was found to have a higher incidence of TTP≤7 hours (36.0% vs. 12.6%), higher incidence of active malignancies (44.0% vs. 24.1%), higher incidence of neutropenia (36.0% vs. 14.9%), higher rate of isolation of extended spectrum β lactamases (ESBL)-producing strains (48.0% vs. 24.1%) than the survival group (n = 87, all P<0.05). Logistic multivariate analysis suggested the significant predictors of in-hospital mortality included TTP≤7 hours [odds ratio (OR) = 3.412, 95% confidence interval (95%CI) = 1.181-9.856, P = 0.023], ESBL-producing strains (OR = 2.545, 95% CI = 0.977-6.625, P = 0.056). Conclusion: In vitro Escherichia coli growth speed in the blood culture correlates with the incidence of neutropenia and primary bacteremia, and TTP≤7 hours and ESBL-producing strains may be the strong, independent risk factors of a worse prognosis in patients with Escherichia coli bacteremia.


Zhang J.,Beijing University Third Hospital | Li Z.-L.,Beijing University Third Hospital | Sui J.,Beijing University Third Hospital | Cui R.-L.,Beijing University Third Hospital | And 2 more authors.
Chinese Journal of Contemporary Pediatrics | Year: 2014

Objective: To study the relationship between Helicobacter pylori (Hp) infection and histopathological features of nodular gastritis (NG) in children. Methods: A total of 213 children who had undergone gastroscopy due to upper gastrointestinal symptoms were enrolled and were divided into NG and non-NG groups according to endoscopic appearance. The histopathological features of gastric mucosa were evaluated using the updated Sydney System. The rates of Hp infection, moderate to severe inflammation and lymphoid follicles formation of gastric mucosa were compared between the two groups. Results: Thirty-eight (17.8%) of the subjects were diagnosed with NG. The NG group had significantly increased rates of Hp infection (86.8% vs 14.3%; P<0.01), moderate to severe inflammation (81.6% vs 15.4%; P<0.01) and lymphoid follicles formation of gastric mucosa (52.6% vs 10.3%; P<0.01) compared with the non-NG group. NG had a high specificity (96.8%) and a positive predictive value (86.8%) for the diagnosis of Hp infection. NG was observed in 33 (56.9%) of 58 Hp-positive children and in 5 (3.2%) of 155 Hp-negative children (P<0.01). Hp-positive children had higher rates of moderate to severe inflammation (86.2% vs 5.2%, P<0.01) and lymphoid follicles formation of gastric mucosa (84.2% vs 14.9% P<0.01) compared with Hp-negative children. There were significant differences in Hp colonization, degree of inflammation and inflammation activity in gastric tissues between the NG and non-NG groups (P<0.01). Conclusions: NG is a special sign of Hp infection in children, which mostly shows moderate to severe inflammation of gastric mucosa, and can be used as an endoscopic indicator of Hp infection. Hp eradication therapy should be considered in the treatment of NG.


Tang W.H.,Beijing University Third Hospital
Zhonghua nan ke xue = National journal of andrology | Year: 2012

To investigate the relationship of sperm morphology with reproductive hormones in infertile men and the pathogenesis of teratozoospermia. This study included 90 infertile men aged 25 - 40 years. We measured their testis volumes using the Prader orchidometer, conducted routine semen analyses according to the WHO laboratory standard, and determined the concentrations of reproductive hormones and sex hormone-binding globulin (SHBG) by chemiluminescence and the levels of free testosterone (FT) and bioavailable testosterone (BioT). All the subjects showed normal sperm concentration. Based on the results of semen morphology analysis, the 90 infertile men were equally divided into groups 1 (morphologically normal sperm <4%), 2 (morphologically normal sperm > or = 4% and <10%), and 3 (morphologically normal sperm > or = 10%), with no significant differences in age among the three groups (P>0.05). The volumes of the left testis were (14.27 +/- 3.65) ml, (16.90 +/- 3.57) ml and (14.57 +/- 3.57) ml, respectively (P = 0.006 group 1 vs group 2, P = 0.741 group 1 vs group 3, P = 0.014 group 2 vs group 3), and those of the right testis were (14.60 +/- 3.70) ml, (16.60 +/- 3.35) ml and (14.67 +/- 3.54) ml, respectively (P = 0.050). There were no significant differences among the three groups in prolactin, follicle-stimulating hormone, luteinising hormone, estradiol, total testosterone and SHBG, (P>0.05). The levels of serum FT were (0.25 +/- 0.07) nmol/L, (0.29 +/- 0.07) nmol/L and (0.31 +/- 0.13) nmol/L (P = 0.086 group 1 vs group 2, P= 0.010 group 1 vs group 3, P= 0.364 group 2 vs group 3), and those of BioT were (5.81 +/- 1.58) nmol/L, (6.78 +/- 1.55) nmol/L and (7.29 +/- 3.02) nmol/L, respectively (P = 0.086 group 1 vs group 2, P = 0.010 group 1 vs group 3, P = 0.364 group 2 vs group 3). The percentage of morphologically normal sperm was positively correlated with the levels of serum FT and BioT (P<0.05). The higher the levels of serum FT and BioT, the higher the percentage of morphologically normal sperm, which suggests that serum FT and BioT might be involved in the pathogenesis of teratozoospermia.


PubMed | Beijing University Third Hospital
Type: Journal Article | Journal: Zhongguo wei zhong bing ji jiu yi xue = Chinese critical care medicine = Zhongguo weizhongbing jijiuyixue | Year: 2012

To demonstrate the pharmacokinetic profile of meropenem when administered by 3-hour infusion in patients undergoing continuous veno-venous hemofiltration (CVVH).The study was conducted in 10 patients, who were treated with CVVH. Each subject received meropenem in 3-hour infusion of 500 mg every 6 hours. Blood samples were collected before infusion (0 hour) and 0.25, 0.5, 1, 1.5, 2, 3, 4, 5, 6 hours (just before the infusion of the next dose) after the beginning of the fourth infusion. The concentrations of meropenem in plasma were measured by high-performance liquid chromatography method, and mean serum meropenem concentration-time curve was plotted.Peak plasma drug concentrations measured 3 hours post-infusion were (25.05 5.64) mg/L, and trough levels after 6 hours of infusion were (13.03 3.01) mg/L. The area under the plasma concentration-time curve (AUC) was (118.42 26.78) mg x h x L. The elimination half-life (T1/2) was (3.74 0.55) hours. The mean residence time (MRT) was (4.99 0.84) hours. The volume of distribution (Vb) was (22.85 9.85) L and clearance of meropenem (CL) was (4.49 1.32) L/h. The percentage of time that the serum drug concentration was above the minimum inhibitory concentration (MIC) accounting for the interval time of infusion (%T>MIC) was 100% (MIC 8 mg/L) in all the 10 patients.Based on these data, we concluded that satisfactory pharmacodynamic parameters could be attained in CVVH patients treated with meropenem by a prolonged infusion time of 3 hours with a dosage of 500 mg for every 6 hours.


PubMed | Beijing University Third Hospital
Type: Journal Article | Journal: Zhonghua nan ke xue = National journal of andrology | Year: 2012

To investigate the relationship of sperm morphology with reproductive hormones in infertile men and the pathogenesis of teratozoospermia.This study included 90 infertile men aged 25 - 40 years. We measured their testis volumes using the Prader orchidometer, conducted routine semen analyses according to the WHO laboratory standard, and determined the concentrations of reproductive hormones and sex hormone-binding globulin (SHBG) by chemiluminescence and the levels of free testosterone (FT) and bioavailable testosterone (BioT).All the subjects showed normal sperm concentration. Based on the results of semen morphology analysis, the 90 infertile men were equally divided into groups 1 (morphologically normal sperm <4%), 2 (morphologically normal sperm > or = 4% and <10%), and 3 (morphologically normal sperm > or = 10%), with no significant differences in age among the three groups (P>0.05). The volumes of the left testis were (14.27 +/- 3.65) ml, (16.90 +/- 3.57) ml and (14.57 +/- 3.57) ml, respectively (P = 0.006 group 1 vs group 2, P = 0.741 group 1 vs group 3, P = 0.014 group 2 vs group 3), and those of the right testis were (14.60 +/- 3.70) ml, (16.60 +/- 3.35) ml and (14.67 +/- 3.54) ml, respectively (P = 0.050). There were no significant differences among the three groups in prolactin, follicle-stimulating hormone, luteinising hormone, estradiol, total testosterone and SHBG, (P>0.05). The levels of serum FT were (0.25 +/- 0.07) nmol/L, (0.29 +/- 0.07) nmol/L and (0.31 +/- 0.13) nmol/L (P = 0.086 group 1 vs group 2, P= 0.010 group 1 vs group 3, P= 0.364 group 2 vs group 3), and those of BioT were (5.81 +/- 1.58) nmol/L, (6.78 +/- 1.55) nmol/L and (7.29 +/- 3.02) nmol/L, respectively (P = 0.086 group 1 vs group 2, P = 0.010 group 1 vs group 3, P = 0.364 group 2 vs group 3). The percentage of morphologically normal sperm was positively correlated with the levels of serum FT and BioT (P<0.05).The higher the levels of serum FT and BioT, the higher the percentage of morphologically normal sperm, which suggests that serum FT and BioT might be involved in the pathogenesis of teratozoospermia.

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