In China, there is a high prevalence of HTN and pre-HTN, and awareness, treatment, and control of HTN were low. Management of medical therapy for HTN needs to improve.
BACKGROUND Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multi-center series of 42 persons with 16p11.2 deletions. RESULTS We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P<3.8×10−6). These null alleles include copy-number variants (12 instances of a 16p11.2 deletion affecting TBX6) and single-nucleotide variants (1 nonsense and 4 frame-shift mutations). However, the discordant intrafamilial phenotypes of 16p11.2 deletion carriers suggest that heterozygous TBX6 null mutation is insufficient to cause congenital scoliosis. We went on to identify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P<1.1×10−6). Replication studies involving additional persons with congenital scoliosis who carried a deletion affecting TBX6 confirmed this compound inheritance model. In vitro functional assays suggested that the risk haplotype is a hypomorphic allele. Hemivertebrae are characteristic of TBX6-associated congenital scoliosis. CONCLUSIONS Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed.
The Glasgow Outcome Scale (GOS) and its most recent revision, the GOS-Extended (GOS-E), provide the gold standard for measuring traumatic brain injury (TBI) outcome. The GOS-E exhibits validity when used with adults and some adolescents, but validity with younger children is not established. Because the GOS-E lacks the developmental specificity necessary to evaluate children, toddlers, and infants, we modified the original version to create the GOS-E Pediatric Revision (GOS-E Peds), a developmentally appropriate structured interview, to classify younger patients. The criterion, predictive, and discriminant validity of the GOS-E Peds was measured in 159 subjects following TBI (mild: 36%; moderate: 12%; severe: 50%) at 3 and 6 months after injury. Participants were included from two studies completed at the Pediatric Neurotrauma Center at Children's Hospital of Pittsburgh. We assessed the relationship among GOS-E Peds, the GOS, and the Vineland Adaptive Behavior Scales as well as other standardized measures of functional, behavioral, intellectual, and neuropsychological outcome. Premorbid function was assessed 24-36 h after injury. The GOS-E Peds showed a strong correlation with the GOS at 3 and 6 month time points. Criterion-related validity was also indicated by GOS-E Peds' association with most measures at both time points and at injury severity levels. The 3 month GOS-E Peds was associated with the 6 month GOS-E Peds, everyday function, behavior, and most cognitive abilities. Discriminant validity is suggested by weak correlations between both 3 and 6 month GOS-E Peds and premorbid measures. The GOS-E Peds is sensitive to severity of injury and is associated with changes in TBI sequelae over time. This pediatric revision provides a valid outcome measure in infants, toddlers, children, and adolescents through age 16. Findings support using the GOS-E Peds as the primary outcome variable in pediatric clinical trials.
Background:Obesity, physical inactivity and reduced physical fitness may contribute to the rising burden of chronic diseases in China. We investigated these factors in China over a 14-year period using data from the randomized national surveys in 2000, 2005, 2010 and 2014. Methods:We conducted four national surveys among 151,656, 163,386, 154,931and 146,703 Chinese adults aged 20-59 in 2000, 2005, 2010 and 2014, respectively. Body mass index (BMI, kg/m 2 ) was used to evaluate underweight (BMI<18·5), overweight (BMI 23·0-27·5) and obesity (BMI≥27·5). Central obesity was defined as waist circumference >90 cm in men and >85 cm in women. Leisure-time physical activity (LTPA) was evaluated by whether or not the participants had completed the recommended minimum 150-min moderate or 75-min vigorous exercise per week. Indices for assessing physical fitness included forced vital capacity, resting heart rate, handgrip strength, sit and reach, and standing on one leg. Findings:The prevalence of obesity increased from 8·6% in 2000, 10·3% in 2005, and 12·2% in 2010 to 12·9% in 2014 (0·32% per year). Comparable estimates were 37·4%, 39·2%, 40·7% and 41·2% for overweight and 13·9%, 18·3%, 22·1% and 24·9% for central obesity. The corresponding upward trends per year were 0·27% and 0·78%, respectively. The prevalence of overweight, obesity and central obesity increased with age and was higher in men than women.. A simultaneous decrease was observed in the prevalence of underweight (5·4% in 2000 versus 4·6% in 2014, a downward trend of 0·06% per year). More participants met the minimum LTPA recommendation (17·2% in 2000 versus 22·8% in 2014), with the prevalence change per year being 0·33%, 0·50%, 0·37%, 0·06% for underweight, normal-weight, overweight, and obesity, respectively. Physical fitness deterioration was observed for all measures examined except resting heart rate. Interpretation:Despite increased participation in LTPA, we observed an upward trend in overweight/obesity and a decline in physical fitness in Chinese adults. Continued nationwide interventions are needed for promoting physical activity and other healthy lifestyles in China. Funding:National Physical Fitness Surveillance Center, Ministry of Science and Technology of the People's Republic of China. Introduction In recent decades, China has witnessed a rapid rise in the burden of noncommunicable diseases (NCDs). Despite differences in sampling methods and 3 diagnostic criteria, the estimated prevalence grew from 9.7% to 11.6% for type 2 diabetes, and from 15.5% to 50.1% for pre-diabetes between 2008 and 2010. 1 These diseases accounted for an estimated 80% of deaths and 70% of total disease burden in China. 2 While aging of the population is an important contributing factor, such health consequences are also likely attributed to the drastic changes in lifestyles following China's economic boom that result in obesity and physical inactivity. 3 These two factors, despite their strong correlation, have been independently linked to increased risk of ...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.