BackgroundKCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).MethodsHere, we report a new case of TMBTS diagnosed in a Lebanese child. Whole genome sequencing was carried out on DNA samples of the proband and his parents to identify mutations associated with this disease. Sanger sequencing was performed to confirm the presence of detected variants.ResultsWhole genome sequencing revealed three missense mutations in TMBTS patient: c.1042G > A in KCNH1, c.2131 T > C in STK36, and c.726C > A in ZNF517. According to all predictors, mutation in KCNH1 is damaging de novo mutation that results in substitution of Glycine by Arginine, i.e., p.(Gly348Arg). This mutation was already reported in a patient with ZLS that could affect the connecting loop between helices S4-S5 of KCNH1 with a gain of function effect.ConclusionsOur findings demonstrate that KCNH1 mutations cause TMBTS and expand the mutational spectrum of KCNH1 in TMBTS. In addition, all cases of TMBTS were reviewed and compared to ZLS. We suggest that the two syndromes are a continuum and that the variability in the phenotypes is the result of the involvement of genetic modifiers.

BackgroundCentral hemodynamic indices have been demonstrated to correlate with coronary artery disease (CAD). However, in the context of type 2 diabetes mellitus (DM), this correlation has not been fully illustrated. Therefore, this study was employed to investigate the impact of DM on the correlation between aortic augmentation index and the severity of coronary artery disease.MethodsIn this study, we analyzed 197 patients who underwent coronary angiography at Anzhen Hospital from September 2015 to January 2016. Central hemodynamics were non-invasively measured with BPro® device (Health STATS, Singapore). The severity of CAD was defined according to SYNTAX scores. Type 2 diabetes was defined according to ADA guidelines. AIx@75 was defined as AIx normalized to a heart rate of 75 bpm. Receiver operating characteristics (ROC) determined the optimal cut-off value of AIx@75 to predict moderate to severe CAD. Multivariate logistic regression analysis evaluated the correlation between central hemodynamic parameters and CAD severity.ResultsEighty-four (42.6 %) of the studied subjects were diabetic patients. Our findings were that (1) AIx@75 was significantly correlated with SYNTAX. (ROC analyzed AUC: 0.638, 95 % CI 0.555–0.721, p < 0.05). The cut-off value of AIx@75 to predict moderate-to-severe CAD as SYNTAX score more than 22 was 71.45. (2) In non-diabetic patients, correlation analysis revealed that AIx@75, augmentation pressure and peak relative time were significantly correlated with CAD severity (p < 0.05). After adjustment, AIx@75 remained as the only independent predictor of moderate-to-severe CAD (odds ratio 1.099, 95 % CI 1.028–1.176, p < 0.05). (3) In diabetic patients, the correlation between central hemodynamic parameters and the severity of CAD did not exist.ConclusionsAortic augmentation index was significantly related to the severity of CAD and was an independent predictor of severe CAD. However, clinical practitioners should note that its value in DM populations was compromised.

BackgroundSocioeconomic inequalities in childhood obesity prevalence differ according to a country’s stage of nutrition transition. The aim of this study was to determine which socioeconomic factors influence inequalities in obesity prevalence in Chinese primary school children living in an urban setting.MethodsWe assessed obesity prevalence among 9917 children aged 5–12 years from a stratified random sample of 29 state-funded (residents) and private (migrants) schools in Guangzhou, China. Height and weight were objectively measured using standardised methods and overweight (+1 SD < BMI-for-age z-score ≤ +2 SD) and obesity (BMI-for-age z-score > +2 SD) were defined using the World Health Organisation reference 2007. Socioeconomic characteristics were ascertained through parental questionnaires. Generalised Linear Mixed Models with schools as a random effect were used to compare likelihood of overweight/obesity among children in private, with public schools, adjusting for child age and sex, maternal and paternal BMI and education level, and household per-capita income.ResultsThe prevalence of overweight/obesity was 20.0 % (95 % CI 19.1 %–20.9 %) in resident compared with 14.3 % (95 % CI 13.0 %–15.4 %) in migrant children. In the adjusted model, the odds of overweight/obesity remained higher among resident children (OR 1.36; 1.16–1.59), was higher in boys compared with girls (OR 2.56; 2.24–2.93), and increased with increasing age (OR 2.78; 1.95–3.97 in 11–12 vs 5–6 year olds), per-capita household income (OR 1.27; 1.01–1.59 in highest vs lowest quartile) and maternal education (OR 1.51; 1.16–1.97 in highest vs lowest). Socioeconomic differences were most marked in older boys, and were only statistically significant in resident children.ConclusionsThe socioeconomic gradient for childhood obesity in China is the reverse of the patterns seen in countries at more advanced stages of the obesity epidemic. This presents an opportunity to intervene and prevent the onset of social inequalities that are likely to ensue with further economic development. The marked gender inequality in obesity needs further exploration.

BackgroundKCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS).MethodsHere, we report a new case of TMBTS diagnosed in a Lebanese child. Whole genome sequencing was carried out on DNA samples of the proband and his parents to identify mutations associated with this disease. Sanger sequencing was performed to confirm the presence of detected variants.ResultsWhole genome sequencing revealed three missense mutations in TMBTS patient: c.1042G > A in KCNH1, c.2131 T > C in STK36, and c.726C > A in ZNF517. According to all predictors, mutation in KCNH1 is damaging de novo mutation that results in substitution of Glycine by Arginine, i.e., p.(Gly348Arg). This mutation was already reported in a patient with ZLS that could affect the connecting loop between helices S4-S5 of KCNH1 with a gain of function effect.ConclusionsOur findings demonstrate that KCNH1 mutations cause TMBTS and expand the mutational spectrum of KCNH1 in TMBTS. In addition, all cases of TMBTS were reviewed and compared to ZLS. We suggest that the two syndromes are a continuum and that the variability in the phenotypes is the result of the involvement of genetic modifiers.

BackgroundCentral hemodynamic indices have been demonstrated to correlate with coronary artery disease (CAD). However, in the context of type 2 diabetes mellitus (DM), this correlation has not been fully illustrated. Therefore, this study was employed to investigate the impact of DM on the correlation between aortic augmentation index and the severity of coronary artery disease.MethodsIn this study, we analyzed 197 patients who underwent coronary angiography at Anzhen Hospital from September 2015 to January 2016. Central hemodynamics were non-invasively measured with BPro® device (Health STATS, Singapore). The severity of CAD was defined according to SYNTAX scores. Type 2 diabetes was defined according to ADA guidelines. AIx@75 was defined as AIx normalized to a heart rate of 75 bpm. Receiver operating characteristics (ROC) determined the optimal cut-off value of AIx@75 to predict moderate to severe CAD. Multivariate logistic regression analysis evaluated the correlation between central hemodynamic parameters and CAD severity.ResultsEighty-four (42.6 %) of the studied subjects were diabetic patients. Our findings were that (1) AIx@75 was significantly correlated with SYNTAX. (ROC analyzed AUC: 0.638, 95 % CI 0.555–0.721, p < 0.05). The cut-off value of AIx@75 to predict moderate-to-severe CAD as SYNTAX score more than 22 was 71.45. (2) In non-diabetic patients, correlation analysis revealed that AIx@75, augmentation pressure and peak relative time were significantly correlated with CAD severity (p < 0.05). After adjustment, AIx@75 remained as the only independent predictor of moderate-to-severe CAD (odds ratio 1.099, 95 % CI 1.028–1.176, p < 0.05). (3) In diabetic patients, the correlation between central hemodynamic parameters and the severity of CAD did not exist.ConclusionsAortic augmentation index was significantly related to the severity of CAD and was an independent predictor of severe CAD. However, clinical practitioners should note that its value in DM populations was compromised.

BackgroundMutant prevention concentration (MPC) is an alternative pharmacodynamic parameter that has been used to measure antimicrobial activity and represents the propensities of antimicrobial agents to select resistant mutants. The concentration range between minimum inhibitory concentration (MIC) and MPC is defined as mutant selection window (MSW). The MPC and MSW parameters represent the ability of antimicrobial agents to inhibit the bacterial mutants selected. This study was conducted to determine the MIC and MPC values of four antimicrobials including ceftiofur, cefquinome, florfenicol and tilmicosin against 105 Riemerella anatipestifer isolates.ResultsThe MIC50/MIC90 values of clinical isolates tested in our study for ceftiofur, cefquinome, florfenicol and tilmicosin were 0.063/0.5、0.031/0.5、1/4、1/4 μg/mL, respectively; MPC50/ MPC90 values were 4/64、8/64、4/32、16/256 μg/mL, respectively. These results provided information on the use of these compounds in treating the R. anatipestifer infection; however, additional studies are needed to demonstrate their therapeutic efficacy.ConclusionBased on the MSW theory, the hierarchy of these tested antimicrobial agents with respect to selecting resistant subpopulations was as follows: cefquinome > ceftiofur > tilmicosin > florfenicol. Cefquinome was the drug that presented the highest risk of selecting resistant mutant among the four antimicrobial agents.