OBJECTIVETo analyze the clinical characteristics of pediatric neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD).

METHODA retrospective analysis was performed evaluating clinical and laboratory characteristics of ten NMO and NMOSD children who were seen in our hospital from December 2010 to May 2014. Median age at onset was 8.9 years (range 0.8-13.8 years). Seven cases were female and three were male. Median disease duration was 1.5 months (range 1-18.5 months).

RESULTEight patients fulfilled diagnostic criteria for NMO and two patients fulfilled diagnostic criteria for NMOSD. The two NMOSD patients had recurrent longitudinally extensive transverse myelitis. Four cases had a monophasic disease course, and six cases had a recurrent course. In eight NMO patients, neuritis was the initial presentation. The two NMOSD patients had no neuritis in the first attack. Nine cases had clinical manifestations of myelitis, one case had asymptomatic spinal cord MRI anomaly. Among the ten patients, seven cases had brain lesions, wherein, four cases had the midbrain involvement and in four cases extensive hemispheric white matter was involved. Three cases had medullary involvement. And two cases had posterior limb of the internal capsule involvement, two cases had thalamus involvement. In one case there was pons, cerebellum or corpus callosum involvement, respectively. One case had accompanied brain symptoms. Of the five patients who had symptomatic brain lesions, four cases had encephalopathy accompanied by large hemispheric lesions on MRI, having a presentation similar to acute disseminated encephalomyelitis. And one case had multiple sclerosis like brain lesion. Of the ten patients tested, nine were seropositive for anti-aquaporin-4 autoantibody. One-patient was complicated with systemic lupus erythematosus. Oligoclonal bands were negative in all cases. All patients received treatment for acute attacks with high-dose intravenous methylprednisolone and intravenous gammaglobulin. The symptoms of 8 cases mitigated. Two cases whose symptoms showed no sign of improvement received plasmapheresis for acute attacks. Seven of the patients were followed up. The median duration of follow-up was 19 months (ranged from 13 months to 30 months). The median Expanded disability status (EDSS) score was 3 (range 1-7).

CONCLUSIONPediatric NMO and(or) NMOSD have a diverse clinical presentation which are more than just optic neuritis and transverse myelitis, including brain symptom. So it may be difficult to distinguish NMO and( or) NMOSD from acute disseminating encephalomyelitis and multiple sclerosis in the early stages of the disease. Antibodies to aquapoin-4 (AQP-Ab) testing is very important for differential diagnosis.

Adolescent ; Anti-Inflammatory Agents ; therapeutic use ; Aquaporin 4 ; Autoantibodies ; Brain ; Brain Diseases ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Methylprednisolone ; therapeutic use ; Multiple Sclerosis ; etiology ; Neuromyelitis Optica ; complications ; diagnosis ; drug therapy ; Retrospective Studies

OBJECTIVETo describe the area specific differences in lung function indices and prevalence of airflow obstruction (AFO) in adults found by China Kadoorie Biobank (CKB) study, involving 512 495 adults, in 10 areas in China.

METHODSThe detailed information on lung function indices (FEV, and FVC) and prevalence of AFO (diagnosed according to GOLD and LLN criteria) of subjects aged 30-79 years were analyzed, those with abnormal lung function indices at baseline survey were excluded.

RESULTSThe FEV1 and FVC among males (2.66 L, 3.16 L) were higher than those among females (1.99 L, 2.35 L). The FEV1 and FVC were highest in Henan and Harbin. The prevalence of AFO diaonosed according to GOLD criteria was 5.13% in males, higher than that in females (3.75%). The prevalence of AFO was higher in rural area than in urban area (males: 6.32% vs. 3.47%; females: 4.26% vs. 2.97%). The prevalence of AFO was highest in Sichuan (13.34% in males, 10.70% in females), followed by that in Suzhou, Henan and Hunan. The prevalence of AFO diagnosed according to LLN criteria (6.93% in males, 6.29% in females) was higher than that diagnosed according to GOLD criteria, but the area specific difference was similar.

CONCLUSIONThe lung function indices and the prevalence of AFO in adults varied greatly among the 10 areas covered by CKB study.

Adult ; Aged ; China ; epidemiology ; Female ; Humans ; Lung Diseases, Obstructive ; epidemiology ; Male ; Middle Aged ; Prevalence ; Respiratory Function Tests ; Surveys and Questionnaires

OBJECTIVETo explore the heritability of body mass index (BMI) in twins across different regions and genders in China.

METHODSA total of 11 122 adult twin pairs from the Chinese National Twin Registry were interviewed. A structural equation model was used to estimate the heritability of BMI.

RESULTSThis study included 6 226 monozygotic twin pairs and 4 896 dizygotic twin pairs, with the age range as 25-85 (39.0 ± 10.8) years. Under stratified analysis by region, results showed that the highest and lowest rates on heritability of BMI in men were seen in Tianjin and Zhejiang, as 67.8% (95% CI: 50.1%-85.8%) and 42.1% (95% CI: 27.2%-60.9%), while in women were seen in Sichuan and Heilongjiang as 56.2% (95% CI: 47.5%-70.0%) and 11.2% (95% CI: 0.0%-31.7%), respectively. Results from the stratified analysis showed that, by gender, the heritability of BMI in men was higher than that in women from the same region. The biggest differences of heritability of BMI between men and women were seen in Heilongjiang as 55.3% (95% CI: 35.5%-80.0%) and 11.2% (95% CI: 0-31.7%), while the smallest differences were seen in Sichuan as 61.5% (95% CI: 40.7%-86.4%) and 56.2% (95% CI: 47.5%-70.0%), respectively.

CONCLUSIONThe heritability of BMI across different regions and genders showed certain differences in the Chinese twins.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Body Mass Index ; China ; Cities ; Female ; Humans ; Male ; Middle Aged ; Registries ; Twins, Dizygotic ; genetics ; statistics & numerical data ; Twins, Monozygotic ; genetics ; statistics & numerical data

OBJECTIVETo study the correlation between fingerprints and body size indicators in adulthood.

METHODSSamples were composed of twins from two sub-registries of Chinese National Twin Registry (CNTR), including 405 twin pairs in Lishui and 427 twin pairs in Qingdao. All participants were asked to complete the field survey, consisting of questionnaire, physical examination and blood collection. From the 832 twin pairs, those with complete and clear demographic prints were selected as the target population. Information of Fingerprints pixel on the demographic characteristics of these 100 twin pairs and their related adulthood body type indicators were finally chosen to form this research. Descriptive statistics and mixed linear model were used for data analyses.

RESULTSIn the mixed linear models adjusted for age and sex, data showed that the body fat percentage of those who had arches was higher than those who did not have the arches (P = 0.002), and those who had radial loops would have higher body fat percentage when compared with ones who did not (P = 0.041). After adjusted for age, there appeared no statistically significant correlation between radial loops and systolic pressure, but the correlations of arches (P = 0.031)and radial loops (P = 0.022) to diastolic pressure still remained statistically significant.

CONCLUSIONStatistically significant correlations were found between fingerprint types and body size indicators, and the fingerprint types showed a useful tool to explore the effects of uterine environment on health status in one's adulthood.

Adult ; Body Size ; Dermatoglyphics ; Diseases in Twins ; epidemiology ; Female ; Health Status ; Humans ; Male ; Surveys and Questionnaires ; Twins

OBJECTIVETo investigate the feasibility of using lower iodine concentration (270 mgI/ml) contrast medium, lower X-ray tube voltage (100 kVp) and iterative reconstruction (IR) to reduce both iodine load and radiation dose but keep the image quality of coronary CT angiography (CCTA).

METHODSA total of 80 consecutive patients with suspected coronary artery disease were prospectively assigned to one of two groups via computer central system from January to May 2013. The control group (n = 40) was scanned using dual-source CCTA protocols of 120 kV, 370 mgI/ml Iopromide and filtered back projection reconstruction with a vascular algorithm (B26f). The study group (n = 40) was scanned using 100 kV, 270 mgI/ml Iodixanol and sinogram affirmed iterative reconstruction with a vascular algorithm (I26f). Other scan parameters and contrast injection protocol were similar between the two groups. Attenuation in the ascending aorta and coronary arteries along with image noise were measured. Images were reconstructed, measured and graded, and iodine load and effective radiation dose were calculated.

RESULTSThe body mass index ((25.3 ± 3.0) kg/m² vs. (25.4 ± 3.0)kg/m², P = 0.852), image quality scores (4.70 ± 0.52 vs. 4.63 ± 0.59, P = 0.545), mean signal-to-noise ratios (22.2 ± 5.5 vs. 23.6 ± 5.8, P = 0.277), and contrast-to-noise ratios (35.6 ± 17.6 vs. 41.1 ± 17.6, P = 0.163) were similar between the control group and study group. Mean iodine loads were significantly reduced in the study group ((18.49 ± 0.75)g) compared to control group ((25.27 ± 0.94)g), P< 0.001). Mean effective radiation doses were also significantly reduced in the study group ((2.31 ± 0.73) mSv) compared to that in control group ((3.52 ± 1.16) mSv), P< 0.001).

CONCLUSIONUse of low X-ray tube voltage and iterative reconstruction allows lower iodine load and effective radiation dose application at CCTA without image quality reduction.

Algorithms ; Aorta ; Body Mass Index ; Contrast Media ; Coronary Angiography ; Coronary Artery Disease ; Feasibility Studies ; Fluoroscopy ; Humans ; Injections, Intravenous ; Iodine ; Iohexol ; analogs & derivatives ; Tomography, X-Ray Computed ; Triiodobenzoic Acids

OBJECTIVETo understand the change trend of birth weight of twins in China from 1995 to 2012.

METHODSA total of 10 827 twins born between 1995 and 2012 registered in national twin registry system in 8 provinces in China were included in this study. A retrospective study was conducted to analyze the change trend of twin's birth weight.

RESULTSMean birth weight of twins decreased by 0.01 kg every five years after adjusting sex, ovum type and place of birth (P = 0.041). The birth weight decreased both in superior twin and in inferior twin over time. After 2007, the birth weight of superior twin decreased by 0.008 kg each year, while the birth weight of inferior twin decreased by 0.014 kg each year. Mean relative difference in birth weight and birth weight discordant rate decreased before 2002, then increased from the lowest point 8.16% and 16.20% to highest point 9.99% and 22.40% respectively.

CONCLUSIONThe birth weight of twins in China decreased between 1995 and 2012, while the birth weight discordant rate increased, suggesting that close attention should be paid to the discordance of twin body weight to reduce the risk of adverse health outcome.

Birth Rate ; Birth Weight ; China ; epidemiology ; Humans ; Infant, Newborn ; Registries ; Retrospective Studies ; Twins

OBJECTIVETo explore the relationship between socioeconomic status and the risk factors of cardiovascular diseases in retirees from a community in Shanghai.

METHODSObservational study involved 9 943 retirees aged 50 and over in Shanghai. Both single factor and multi-factor analyses methods were used to describe the correlation between factors as:educational level, marital status, annual household income and risk of hypertension, coronary heart disease, stroke etc. A new defined compound index was used to assess the relevance of socioeconomic status on the risk of cardiovascular diseases, based on logistic regression model.

RESULTSAfter adjusted for age, the risk of cardiovascular diseases in these retirees was influenced by socioeconomic status. In general, opponent correlations in education levels and prevalence of hypertension were found between female and male. Compared with those having received college or higher education, the risk of hypertension increased in females when the education level declined, with OR as 1.08 (95% CI:0.89-1.30). For those having had senior high school junior high school or elementary education, the risks of hypertension were 1.26 (95%CI:1.05-1.51), 1.34 (95%CI:1.08-1.65), 0.72 (95%CI:0.59-0.87),0.78 (95%CI:0.64-0.94), and 0.70 (95%CI:0.52-0.92) for males, respectively. The risk of cardiovascular diseases increased with annual household income. Compared with high level of socioeconomic status, lower socioeconomic status might decline the risk of cardiovascular diseases in males by approximately 30%, with OR for medium being 0.72 (95%CI:0.61-0.84) and for lower ones it was 0.70 (95% CI:0.57-0.87). However, similar correlations were not found in females. No significant relationship was found between marital status and the prevalence of cardiovascular diseases in this study.

CONCLUSIONThe risks of cardiovascular diseases varied with different socioeconomic status, indicating that tailored interventions should be conducted in different socioeconomic groups.

Adult ; Aged ; Cardiovascular Diseases ; epidemiology ; Female ; Humans ; Male ; Middle Aged ; Risk Factors ; Social Class ; Socioeconomic Factors

OBJECTIVETo analyze the associations between birth weight and overweight/obesity among children.

METHODSA total of 8 267 twin pairs younger than 18 years old from the Chinese National Twin Registry were included in the study. Associations between birth weight, childhood BMI and overweight/obesity were explored by this co-twin control study.

RESULTSAfter adjusting for sex and zygosity, when birth weight had an increase of 0.5 kg per fold, the OR values for overweight and obesity were 1.87(95%CI: 1.40-2.48) for 2-6 year olds, 1.69 (95%CI: 1.16-2.46) for 6-12 year olds and 1.28 (95%CI: 0.80-2.07) for 12-18 year olds.

RESULTSfrom the stratified analysis in the 2-6 year-olds, statistically significant differences were seen. When birth weight increased 0.5 kg per fold, the risk of overweight and obesity increased by 0.87 times among the dizygotic twins, more than that of the monozygotic twins (OR=1.86, 95%CI:1.24-2.81). The risk for male twins was 1.12 times higher than that of female twins (OR=1.65, 95%CI:1.11-2.44).

CONCLUSIONSBirth weight seemed associated with overweight and obesity for kids at early childhood or at age for schools. However, guidance on the implementation of public health interventions is still needed on these children.

Adolescent ; Birth Weight ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Male ; Obesity ; ethnology ; Overweight ; ethnology ; Registries ; Risk ; Twins, Dizygotic ; Twins, Monozygotic

OBJECTIVETo explore the application value of next generation sequencing (NGS) in the diagnosis of mitochondrial disorders.

METHODAccording to mitochondrial disease criteria, genomic DNA was extracted using standard procedure from peripheral venous blood of patients with suspected mitochondrial disease collected from neurological department of Beijing Children's Hospital Affiliated to Capital Medical University between October 2012 and February 2014. Targeted NGS to capture and sequence the entire mtDNA and exons of the 1 000 nuclear genes related to mitochondrial structure and function. Clinical data were collected from patients diagnosed at a molecular level, then clinical features and the relationship between genotype and phenotype were analyzed.

RESULTMutation was detected in 21 of 70 patients with suspected mitochondrial disease, in whom 10 harbored mtDNA mutation, while 11 nuclear DNA (nDNA) mutation. In 21 patients, 1 was diagnosed congenital myasthenic syndrome with episodic apnea due to CHAT gene p.I187T homozygous mutation, and 20 were diagnosed mitochondrial disease, in which 10 were Leigh syndrome, 4 were mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome, 3 were Leber hereditary optic neuropathy (LHON) and LHON plus, 2 were mitochondrial DNA depletion syndrome and 1 was unknown. All the mtDNA mutations were point mutations, which contained A3243G, G3460A, G11778A, T14484C, T14502C and T14487C. Ten mitochondrial disease patients harbored homozygous or compound heterozygous mutations in 5 genes previously shown to cause disease: SURF1, PDHA1, NDUFV1, SUCLA2 and SUCLG1, which had 14 mutations, and 7 of the 14 mutations have not been reported.

CONCLUSIONNGS has a certain application value in the diagnosis of mitochondrial diseases, especially in Leigh syndrome atypical mitochondrial syndrome and rare mitochondrial disorders.

Child ; DNA, Mitochondrial ; genetics ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Leigh Disease ; Mitochondrial Diseases ; diagnosis ; Mitochondrial Encephalomyopathies ; Mutation ; Optic Atrophy, Hereditary, Leber ; Phenotype ; Point Mutation ; Sequence Analysis, DNA

OBJECTIVETo investigate both genetic and environmental influences on the exercise participation and sedentary behavior in Qingdao, Shandong province and 326 in Lishui, Zhejiang province.

METHODS568 twin pairs, including 242 in Qingdao and 326 in Lishui, were studied. Exercise participation was measured by two questions on the frequency and intensity and then divided into two groups. Sedentary behavior was measured by one question as 'how long do you spend on sitting every day'. Variance component models based on twins was used to estimate the genetic and environmental factors on these traits.

RESULTSThe average age in monozygotic twins was (41.14 ± 10.11)while in dizygotic twins it was (41.23 ± 9.89). Genetic factors accounted 78% (35%-96%) and 59% (0-94%) for exercise participation variance in Qingdao and Lishui in people aged between 20 and 40. However, there were no heritability noticed on physical activity in people older than 40 years of age. Rates of heritability on sedentary behavior in Qingdao and Lishui were 68% (59%-75%) and 32% (7%-62%), respectively.

CONCLUSIONResults from the study suggested that sedentary behavior in Chinese people was influenced by genetic factors, which could also explain much of the exercise participation variance in people aged between 20 and 40.

Adult ; China ; Cross-Sectional Studies ; Exercise ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Sedentary Lifestyle ; Surveys and Questionnaires ; Twins ; genetics ; Young Adult