[A retrospective study of the inducing factors and clinical characteristics of patients hospitalized for asthma exacerbation in China in 2013-2014].

Objective: To study the inducing factors and clinical characteristics of patients hospitalized for asthma exacerbation in China. Methods: Patients hospitalized for asthma exacerbation at 29 hospitals in China were retrospectively recruited during 2013-2014. Results: Clinical data of 3 240 asthmatic patients were collected and analyzed including 1 369(42.3%) males and 1 871(57.7%) females. The patients hospitalized for asthma exacerbation counted for 2.95% (6 375/215 955) of all patients hospitalized during the same period. The leading six inducing factors, in sequence, were acute upper respiratory tract infection [42.3%(1 370/3 240)], changes of weather [22.8%(738/3 240)], noxious gas [(4.3%(140/3 240), allergy challenges [3.5%(115/3 240)], strenuous exercise [1.8%(57/3 240)], and air pollution [1.5%(49/3 240)]. In older patients, more exacerbations were induced by weather changes, yet less sensitive to allergy challenges. As to middle-aged patients, they were less sensitive to upper respiratory tract infections, however the difference was not statistically significant (P>0.05). In winter more asthma patients were induced by upper respiratory tract infections, while in autumn more patients were induced by weather changes, strenuous exercise and air pollution. In spring and summer more patients were induced by allergy challenges, but the differences failed to achieve statistical significance (P>0.05). In northern cities more patients were induced by upper respiratory infections, whereas in southern cities more by noxious gases. Allergy challenges and air pollution tended to affect more patients in northern cities, but the difference was of no significance (P>0.05). The differences of inducing factors among patients of different gender, with or without a smoking history, and with different exacerbation severity didn't show any statistical significance. The patients with severe and life-threatening exacerbations counted for 20.1% (652/3 240). The percentage of patients older than 60 years was higher in patients with severe or life-threatening exacerbations than in whose with mild or moderate exacerbations, so did the percentage of male patients, of patients with disease duration longer than 10 years, with smoking history, and with a history of hospitalization or emergency department visits due to asthma exacerbation during the last year. Conclusion: The acute upper respiratory tract infection ranks top among all the inducing factors. Senility, male gender, long duration of disease, smoking history, and a history of frequent hospital visits might be the risk factors for severe or life-threatening asthma exacerbations.

[Evaluation of asthma management from the surveys in 30 provinces of China in 2015-2016].

Objective: To evaluate the general level of asthma management in urban areas of China and further promote the national asthma management plan. Methods: A multi-center, cross-sectional survey was carried out in 30 provinces of China (except for Tibet) during Oct 2015 to May 2016. It's a questionnaire-based face-to-face survey which included asthma management using peak flow meter (PFM) and pulmonary function test, medication choice of maintenance therapy and asthma education. Results: A total of 3 875 asthmatic outpatients were recruited including 2 347(60.6%) females and 1 528(39.4%) males. The mean age was (50.7±16.7) years ranging from 14 to 99. Only 10.1%(388/3 837) patients used PFM as monitoring, whereas 62.1%(2 405/3 874) patients underwent pulmonary function test during the past year. There were 57.4%(2 226/3 875) patients treated with inhaled cortical steroid plus long-acting ß(2)-agonist combinations (ICS+LABA) as daily medication. 43.3%(1 661/3 836) patients were followed up by physicians. Among this population, 1 362 asthmatic outpatients were recruited, who also took part in the asthma control survey in 2007-2008 in 10 cities. In this subgroup, 17.9%(244/1 360) were tested by PFM and 66.6%(907/1 362) by pulmonary function test during last year. As to the medication, 63.1%(860/1 362) selected ICS+LABA for daily control. There were 50.4%(685/1 359) patients in the follow-up cohort by physicians. Compared to the similar survey conducted in 2007-2008, the proportion of patients with ICS+LABA regimen and follow-up by physicians were markedly higher, while the rate of PFM use did not have significant improvement. Conclusion: Although the present level of asthma management in China is still far from ideal, asthma management has improved compared to 8 years ago. Yet the use of PFM does not significantly improve. Asthma action plan and application of PFM should be further promoted to improve the level of asthma management.

[A retrospective study of the mortality and death-related risk factors of patients hospitalized for asthma exacerbation in Chinese urban areas].

Objective: To study the mortality and death-related risk factors of patients hospitalized for asthma exacerbation in Chinese urban areas. Methods: A retrospective study was carried out in 29 hospitals of 29 provinces throughout mainland China. Patients hospitalized for asthma exacerbation during 2013-2014 in each hospital were included. For each patient, information about demography, admission time, comorbidities, severity of diseases, intense care unit (ICU) admission, use of mechanical ventilation and the outcome was obtained. The mortality of patients hospitalized for asthma exacerbation was calculated, and the basic information and causes of death of the patients who died were summarized. The death-related risk factors and numbers of comorbidities were compared between the patients who survived and those who died during hospitalization. Results: A total of 3 240 patients (median age 57.0) were included and among them 8 patients (median age 68.5) died. The mortality of patients hospitalized for asthma exacerbation was 0.25%. All the patients who died were admitted during the winter and spring. One patient died of acute myocardial infarction, one of cardiac shock, one of tension pneumothorax, one of sudden death, one of respiratory failure and three of unknown causes. The average number of comorbidities of patients who died was 1.10, larger than that of patients who survived (0.83) (P>0.05). More patients had diabetes, coronary artery diseases and hypertension as comorbidities in the patients who died (2/8) than those who survived[7.6% (246/3 232), 7.6% (246/3 232), 22.6% (731/3 232), respectively](all P>0.05). Conclusions: The in-hospital mortality of patients hospitalized for asthma exacerbation of China in this study is low. The patients who died are much older, and with more comorbidities, and a higher percentage of comorbidities such as diabetes, coronary artery diseases, and hypertension.

[A retrospective study of the treatment of patients hospitalized for asthma exacerbation in China].

Objective: To study the treatment of patients hospitalized for asthma exacerbation in China. Methods: This was a retrospective study and involved patients hospitalized for asthma exacerbation in 29 hospitals throughout China during Jan 2013 to Dec 2014. Information of the demographic features, the severity of the exacerbation, the medicine prescribed during the hospitalization and the use of mechanical ventilation were collected and analyzed. Results: During the study period, there were 3 240 patients hospitalized for asthma exacerbation, and 1 369(42.3%) of them were males 1 871(57.7%)were females. Patients of mild, moderate, severe, and life-threatening exacerbation counted for 41.7%, 37.8%, 19.2% and 1.0%, respectively of the total patients. Of all the patients, 72.6% used bronchodilators by nebulizer, 70.8% used inhaled corticosteroids by nebulizer, 60.5% used intravenous corticosteroids, 17.3% used oral corticosteroids, and 80.5% used antibiotics. The percentages of patients using systemic corticosteroids and antibiotics were higher in patients with more severe exacerbation. In patients with mild exacerbation, there were 74.9% and 52.2% who used antibiotics and systemic corticosteroids, respectively. A total of 73 patients (2.3%) used mechanical ventilation, and 62 of them used noninvasive ventilation, 16 used invasive ventilation, and 5 used both. Conclusions: Nebulizer therapy has been accepted as the main administration route of medicine in the treatment of asthma exacerbation. A large amount of patients used antibiotics and systemic corticosteroids during hospitalization, indicating there may be some overuse of these medicines.

[Evaluation of asthma disease perception from China national asthma control survey].

Objective: In order to evaluate disease perception of asthma patients in urban China and provide evidence for further specific patient education. Methods: A multi-center, cross-sectional, questionnaire-based survey was carried out in 30 general hospitals dispersed in 30 provinces of mainland China (except for Tibet) during Oct 2015 to May 2016. Information of disease perception [Question 1: the disease nature of asthma; Question 2: medication choice of first-line in chronic asthma; Question 3: the occasion of using short-acting aerosols of receptor agonists; Question 4: perception of asthma treatment goal; Question 5: reason for not using peak flow meter (PFM)] were collected from asthma patients of outpatient department. These results were compared with the same type of survey results from 2007-2008. Results: Altogether 3 875 asthmatic outpatients were recruited. 69.0% (2 660/3 857) of the patients had right perception on the disease nature of asthma, 60.2% (2 321/3 857) of the patients considered inhaled corticosteroids (ICS)/inhaled corticosteroids plus long-acting beta2-agonists (ICS+ LABA) as daily-used first-line medication for chronic asthma. 85.7% (3 277/3 823) of the patients had right perception on the condition of using short-acting beta2-agonists (SABA). 75.4% (2 761/3 661) of the patients had right perception on asthma treatment goal. Only 10.1% (388/3 837) of the patients used PFM. Of the reasons for not using PFM, 65.2% (2 518/3 860) of the patients chose doctors never introduced. Among the 10 cities, which were also involved in the asthma control survey in 2007-2008, 71.1% (968/1 361) of the patients had right perception on the disease nature of asthma, 61.6% (839/1 362) of the patients considered ICS/ICS+ LABA as daily-used first-line medication for chronic asthma. 88.7% (1 207/1 361) of the patients had right perception on the condition of using SABA. 74.5% (1 013/1 360) of the patients had right perception on asthma treatment goal. 17.9% (244/1 360) of the patients used PFM. Of the reasons for not using PFM, 76.2% (931/1 221) of the patients chose doctors never introduced. Compared to the survey conducted in 2007-2008, the perception on disease nature and medication choice as daily-used first-line medication for chronic asthma significantly improved, the perception on occasion of using SABA and asthma treatment goal was comparable, while the rate of PFM usage showed no significant improvement. In reasons of not using PFM, doctors never introduced ranked the first. Conclusions: Compared to the similar survey conducted in 2007-2008, the overall status of disease perception of asthma patients has been improved in urban China, while the rate of PFM usage showed no significant improvement. Asthma education on asthma and asthma self-management should be further pushed forward.

[Trends of asthma control, disease management and perception in China].

Objective: To evaluate the changes of asthma control, disease management and perception in recent years in China. Methods: We conducted 2 multi-center, cross-sectional surveys. Outpatient asthmatic patients from 10 cities in mainland China (2007-2008) and 30 central cities from 30 provinces in China (except Tibet)(2015-2016) were recruited respectively. Data of asthma control, disease management and perception from the 2 surveys were compared for 10 cities which took part in both of the 2 surveys. Chi-square test was used for comparison between groups. Results: The asthma control level improved from 28.7%(839/2 928) in 2007-2008 to 39.2%(533/1 361) in 2015-2016(P<0.01). The rate of emergency visits was 18.2%(248/1 362) in 2015-2016, which was lower than that in 2007-2008(33.9%, 1 032/3 044)(P<0.01). The rate of peak flow meter (PFM) usage was 17.9%(244/1 360) in 2015-2016, which was slightly lower than the PFM usage rate in 2007-2008(21.8%, 660/3 030)(P=0.004). 56.0%(763/1 362) of the patients used inhaled corticosteroid (ICS) + formoterol to control asthma when asthma symptoms deteriorated in 2015-2016, which was higher than the result of 2007-2008(31.8%, 803/2 524)(P<0.01). 71.1%(968/1 361) of the patients in 2015-2016 had a right perception on disease nature, while the result in 2007-2008 was 63.3%(1 889/2 986)(P<0.01). 61.6%(839/1 362) of the patients in 2015-2016 had a right perception on medication choice on daily-use first-line medication for chronic asthma, while the result in 2007-2008 was 51.0%(1 500/2 942)(P<0.01). Conclusion: The current level of asthma control and disease perception in China improved significantly in recent years, while the rate of PFM usage showed no significant improvement. Asthma action plan including PFM monitoring and asthma self-management should be further promoted nationwide.

[Research progress on etiology and treatment of adolescent lumbar disc herniation].

Adolescent lumbar disc herniation(ALDH) is clinically rare. Factors such as dysplasia, genetic factors, trauma, spinal sagittal aligment have been suspected as the pathogenesis of ALDH. The clinical features of ALDH are different from adult lumbar disc herniation: typical physical signs with minor complaints, higher proportion of lumbar deformities. ALDH usually involves one segment, presenting central type, and the herniated disc is larger with bone structure.Conservative treatment is suggested for ALDH patients without severe nerve injury. Operative procedures includes non-fusion intervertebral disc resection, lumbar fusion and percutaneous endoscopic lumbar discectomy, different procedure would be selected according to the type of herniated disc.

[Seasonal characteristics of patients hospitalized for asthma exacerbation in China].

Objective: To study the seasonal characteristics of patients hospitalized for asthma exacerbation in China. Methods: This was a retrospective study which involved patients hospitalized for asthma exacerbation in 29 hospitals throughout mainland China during 2013-2014. The number of patients hospitalized for asthma exacerbation in each hospital was calculated, as well as the ratio of asthmatic patients to all the hospitalized patients. The analysis by month was conducted. The number and ratio of asthmatic patients in the northern and southern cities were calculated respectively. Results: During the study period, there were 6 480 patients hospitalized for asthma exacerbation, accounting for 3.14% (6 480/206 135) of all the hospitalized patients of the respiratory department in 29 hospitals. The analysis by month showed that the ratio of patients hospitalized for asthma exacerbation was highest in March (3.49%), then declined from April to June, then rose again from July, reaching a second peak at September (3.28%), and then declined again from October to December. The ratio of asthmatic patients in every month was higher in northern cities than in southern cities. Conclusions: The ratio of patients hospitalized for asthma exacerbation in China fluctuates with the changes of seasons, and March and September are the two peak months. Northern cities have a higher ratio of asthmatic patients than southern cities.

[Warning symptoms of asthma attack and asthma self-management: a national asthma control survey from China].

Objective: To investigate warning symptoms of asthma attack and evaluate asthma self-management status of asthma patients in urban China. Methods: A multi-center, cross-sectional, questionnaire-based survey was carried out from 30 general hospitals dispersed in 30 provinces of mainland China (except for Tibet) during Oct 2015 to May 2016. Information of frequency and warning symptoms of asthma attack, the time from warning symptoms to asthma attack, the impact of asthma attack and asthma self-management were collected from asthma patients of outpatient department. Results: Altogether 3 875 asthmatic outpatients were recruited. 78.1% (3 026/3 875) of the patients reported restriction of exercise and daily activities during asthma exacerbation. 82.5% (3 160/3 829) of the patients had warning symptoms before asthma attack, the most common warning symptoms were cough, chest tightness and shortness of breath. The median time from warning symptoms to asthma attack was 2 h, the mean time was 90 h. Only 4.4% (167/3 829) of the patients had definite confidence to control asthma when symptoms deteriorated. 76.7% (2 937/3 828) of the patients used medications to control asthma when asthma symptoms deteriorated. Medication choice: inhaled corticosteroid (ICS) + formoterol 45.8% (1 776/3 875), short-acting beta-agonist (SABA) 23.9% (927/3 875). Conclusions: Most asthma patients have warning symptoms before asthma attack, the most common symptoms are cough, chest tightness and shortness of breath. The proportion of patients conducting effective asthma self-management remains low.

[A multi-center study for the association between the perception and control of disease among asthmatic patients in Chinese urban areas].

Objective: To investigate the current perception of disease among asthmatic patients in Chinese urban areas, and to address its association with asthma control. Methods: This was a nationwide, multi-center, cross-sectional study covering 30 third-level, grade A hospitals in 30 provinces, municipalities and autonomous regions (not including Tibet) across Chinese mainland. The survey was carried out from October 2015 to May 2016. Asthmatic outpatients were selected to receive face-to-face questionnaire survey on asthma control including Asthma Control Test (ACT) score, classification of asthma control level[according to the Global Initiative for Asthma (GINA) 2015 classification system, as assessed by the physician completing the survey], perception of asthma (including question 1: nature of asthma as a disease; question 2: selection of first-line therapeutic agents to be regularly used daily for asthma; question 3: appropriate timing of the use of short-acting aerosols of ß(2) receptor agonists; and question 4: therapeutic goals for asthma). Results: A total of 3 875 asthmatic outpatients were included; among them, 69.0% (2 660/3 857) were aware that asthma is "an airway inflammatory disorder resulting from the combined effects of heredity and environment" ; 60.2% (2 321/3 857) considered "inhaled glucocorticoids or their compound preparations" to be the first-line therapeutic agents to be regularly used daily for patients with persistent chronic asthma; 85.7% (3 277/3 823) considered it appropriate to use short-acting aerosols of ß(2) receptor agonists "as needed in the event of disease aggravation or acute exacerbation" ; and 75.4% (2 761/3 661) were aware that asthma "can be adequately or completely controlled in the long term" . The ACT score[20 (16, 23) vs 19 (16, 22) points; Z=-3.928, P<0.001]and asthma control rate (29.92% vs 25.31%; χ(2)=8.616, P=0.003) were significantly higher, and the rate of uncontrolled asthma (19.92% vs 23.48%; χ(2)=6.267, P=0.012) was significantly lower among the 2 660 (69.0%) patients correctly answering question 1 than among the 1 197 (31.0%) patients giving incorrect answer. The ACT score[21 (17, 23) vs 19 (15, 22) points; Z=-9.190, P<0.001] and asthma control rate (32.66% vs 22.20%; χ(2)=49.614, P<0.001) were significantly higher, and the rate of uncontrolled asthma (18.40% vs 25.00%; χ(2)=24.267, P<0.001) was significantly lower among the 2 321 (60.2%) patient correctly answering question 2 than among the 1 536 (39.8%) patients giving incorrect answer. Conclusions: Compared to previous surveys, there has been improved perception of disease among asthmatic patients in Chinese urban areas. Correct perception of disease is favorable for improving asthma control level.

[A multi-center retrospective study of clinical characteristics and hospitalization costs of patients hospitalized for asthma exacerbation in China during 2013-2014].

Objective: To study the characteristics of patients hospitalized for asthma exacerbation in 29 teaching hospitals in China and to evaluate the hospitalization costs of these patients. Methods: This was a retrospective study and involved patients hospitalized for asthma exacerbation in 29 hospitals throughout China during 2013-2014. Information about the demographic features, conditions before the admission, the outcome, the complications, and the costs was collected using the pre-designed case report form. The influencing factors of the hospitalization costs were analyzed. Results: 3 240 asthmatic patients (1 369 males and 1 871 females) were included and data were analyzed. There were 41.5% (1 346/3 240) patients who had a history of previous hospitalization or emergency department visits during the last year. Only 28.0% (907/3 240) patients had used asthma-controlling medications regularly before the admission. Seventy-three(2.3%) patients were admitted to ICU and used mechanical ventilation. Mortality among these patients hospitalized for asthma exacerbation was 0.25% (8/3 240). The median hospitalization costs was 9 045(6 431, 13 035) RMB. The costs of medications, examinations and treatment accounted for 52.1%, 27.6%, and 9.6% respectively. The costs of asthma medications accounted for only 22.7% of the total medication costs, while the costs of antibiotics accounted for 44.0%. The patients who were admitted to ICU, used mechanical ventilation, complicated with pneumonia, or had a history of hospitalization or emergency department visits during the last year due to asthma exacerbations tended to cost more. Conclusion: In this study, we demonstrated that only a minority of the patients had used asthma controllers regularly before the admissions with exacerbations. The in-hospital mortality of asthma patients in this study was much lower than that reported in other countries. The average cost of hospitalization was much higher than the yearly cost of maintenance therapy. Medication was the predominant component of the total hospitalization costs, and the costs of antibiotics made up the major part of the total medication costs.

[The level of asthma control in China from a national asthma control survey].

Objective: To assess the overall asthma control level in urban China. Methods: A multi-center, cross-sectional, questionnaire-based survey was carried out in 30 provinces in China (except Tibet). Asthmatic outpatients who met the inclusion criteria were recruited consecutively from 30 sub-centers from October 2015 to May 2016. Data of demographic characteristics, asthma control, asthma management, asthma exacerbations and self-management, and disease perception were collected by face-to-face interviews. Results: Totally 3 875 asthmatic outpatients were recruited. Asthma control level was assessed according to GINA 2015. The prevalence of asthma control was 28.5%(1 099/3 854). Among 10 cities, which were also involved in the asthma control survey in 2008, the level of asthma control improved from 28.7% in 2008 to 39.2%(533/1 361) in 2016. The rate of hospitalizations due to asthma exacerbations was 26.4%(1 017/3 858) and the rate of emergency visits was 22.4%(864/3 858). Among adult patients, 18.4%(568/3 092) of them had been absent from work while 63.6%(63/99) adolescent patients had been absent from school because of asthma attacks in the previous year. Conclusion: Although the level of asthma control in China is still far from ideal at present, the status has been improved in some cities. Poorly controlled asthma resulted in increase of hospitalizations, emergency department visits and work/school absences.

[Research progress on early diagnosis, reasonable prevention and treatment of symptomatic spinal epidural hematoma following spinal surgery].

Symptomatic spinal epidural hematoma (SSEH) following spinal surgery is rare but one of the serious complications. SSEH can leave devastating neurological consequences if missing the optimal timing for treatment. The early diagnosis of SSEH is critical to the neurologic recovery, and MRI examination can help to check the location and the scope of the hematoma and provide imaging information for surgical operation. The risk factors of SSEH can be divided into preoperative factors, intraoperative factors and postoperative factors. The occurrence of SSEH can be minimized by controlling the risk factors, exact hemostasis and reasonable perioperative management. Patients with mild paralysis can choose conservative treatment, while patients with severe or progressive nerve injury (manual muscle testing <3) and unendurable nerve root pain should choose to clean the hematoma and decompress the nerve as soon as possible.

Structural health monitoring of civil infrastructure using optical fiber sensing technology: a comprehensive review.

In the last two decades, a significant number of innovative sensing systems based on optical fiber sensors have been exploited in the engineering community due to their inherent distinctive advantages such as small size, light weight, immunity to electromagnetic interference (EMI) and corrosion, and embedding capability. A lot of optical fiber sensor-based monitoring systems have been developed for continuous measurement and real-time assessment of diversified engineering structures such as bridges, buildings, tunnels, pipelines, wind turbines, railway infrastructure, and geotechnical structures. The purpose of this review article is devoted to presenting a summary of the basic principles of various optical fiber sensors, innovation in sensing and computational methodologies, development of novel optical fiber sensors, and the practical application status of the optical fiber sensing technology in structural health monitoring (SHM) of civil infrastructure.

Structural monitoring of metro infrastructure during shield tunneling construction.

Shield tunneling construction of metro infrastructure will continuously disturb the soils. The ground surface will be subjected to uplift or subsidence due to the deep excavation and the extrusion and consolidation of the soils. Implementation of the simultaneous monitoring with the shield tunnel construction will provide an effective reference in controlling the shield driving, while how to design and implement a safe, economic, and effective structural monitoring system for metro infrastructure is of great importance and necessity. This paper presents the general architecture of the shield construction of metro tunnels as well as the procedure of the artificial ground freezing construction of the metro-tunnel cross-passages. The design principles for metro infrastructure monitoring of the shield tunnel intervals in the Hangzhou Metro Line 1 are introduced. The detailed monitoring items and the specified alarming indices for construction monitoring of the shield tunneling are addressed, and the measured settlement variations at different monitoring locations are also presented.

[Orodental phenotype and genotype findings in 8 Chinese children with hypophosphatasia].

Objective: To analyze the oral phenotype and gene variation of children with hypophosphatasia (HPP), and explore the genotype-phenotype correlations. Methods: Eight children diagnosed with HPP from January 2008 to January 2023 in Children's Hospital,Zhejiang University School of Medicine were recruited in this study. The pathogenic genes of 5 of them were sequentially analyzed and all of their oral manifestations, laboratory tests and genetic variation types were retrospectively analyzed. Results: A total of 8 children were recruited in the study, 3 males and 5 females, aged from 20 months to 104 months, whose main complaints were premature deciduous tooth loss. Among them, 3 children were diagnosed with odonto HPP, and the other 5 children were diagnosed with childhood HPP, including 2 children was odonto HPP at the first diagnosis and modified as childhood HPP at the age of 5. The age range of first deciduous tooth loss is 9 to 18 months, and the age range of diagnosis is 20 to 104 months. The patients of odonto HPP only showed premature loss of deciduous anterior tooth, while the patients with childhood HPP also showed premature loss of multiple deciduous molars. Panoramic radiographic film revealed enlarged pulp chambers and radicular canals in some primary and permanent teeth. The enamel hypoplasia, hypoplastic short roots, and alveolar resorption of deciduous molar were observed in some cases. The serum alkaline phosphatase (ALP) (30-107 U/L) levels of all the patients were lower than that in the normal children of same age and gender, and the ALP value of the 1-3 years old girls with childhood HPP (30-33 U/L) was lower than that of the three children with odonto HPP (61-107 U/L), but there was no significant difference in statistical analysis. There were 8 variation sites of ALP liver/bone/kidney (ALPL) gene detected in 5 children and their families, all of which were missense variation, including the new variants in the mutations of c.1334C>G(p.Ser445Cys) and c.1259G>T(p.Gly420Val) that were not reported in the literature. One case was autosomal dominant inheritance and other 4 cases were complex heterozygous variation with autosomal recessive inheritance. Conclusions: Pediatric stomatologists are often the first doctors to detect childhood and odonto HPP. Diagnosis of mild HPP is often delayed. The severity of HPP is related to serum ALP level and ALPL gene mutation sites.

The jigsaw puzzle of pedigree: whole-genome resequencing reveals genetic diversity and ancestral lineage in Sunong black pigs.

The Sunong black pig is a new composite breed under development generated from Chinese indigenous pig breeds (i.e., Taihu and Huai) and intensive pig breeds (i.e., Landrace and Berkshire), which is an important genetic material for studying breeding mechanisms. However, there is currently limited knowledge about the genetic structure and germplasm characteristics of Sunong black pigs. To comprehensively understand their genetic composition and ancestry proportions, we performed population structure and local ancestry inference analysis based on whole-genome sequencing information. The results showed that Sunong black pigs could be clustered independently into a group, whose pedigree was intermediate between indigenous and commercial pig breeds, but closer to commercial pigs. Furthermore, local ancestry inference analysis revealed that Sunong black pigs inherited immune and reproductive traits from indigenous pig breeds, including CC and CXC chemokine family, Toll-like receptor family, IFN gene family, ESR1, AREG and EREG gene, while growth and development-related traits were inherited from commercial pig breeds, including IGF1 and GSY2 gene. Overall, Sunong black pigs have formed a relatively stable genome structure with some advantageous traits inherited from their ancestral breeds. This study deepened the understanding of the breeding mechanism of Sunong black pigs and provided a reference for cross-breeding programmes in livestock.

Erythrocyte trans-fatty acids, type 2 diabetes and cardiovascular risk factors in middle-aged and older Chinese individuals.

AIMS/HYPOTHESIS: Few data are available about intakes and food sources of trans-fatty acids (TFAs) or their associations with cardiometabolic outcomes in Asian people who consume a prudent diet but are experiencing rapid nutritional transitions. We aimed to investigate the relationships between TFA biomarkers and type 2 diabetes and cardiovascular risk factors in Chinese individuals. METHODS: Erythrocyte fatty acids were measured by gas chromatography among 3,107 men and women (50-70 years) recruited from urban and rural areas in Beijing and Shanghai, China. RESULTS: Total trans-18:1 and two trans-18:2 isomers were detected and accounted for 0.37% of the total fatty acids in the erythrocytes. Concentrations of TFAs were higher in women than men, and in urban than rural residents. Of the TFAs, trans-18:1, but not trans-18:2, showed a modest association with dairy consumption (ß = 0.27), but not with other foods. After adjustment for BMI, social-demographic, lifestyle and dietary factors and other TFAs, erythrocyte trans-18:1 was shown to be associated with a lower risk of type 2 diabetes (OR comparing extreme [first and fourth] quartiles 0.68, 95% CI 0.48, 0.97, p(trend) = 0.02), as well as 20-50% lower odds of central obesity, dyslipidaemia, hyperglycaemia, insulin resistance and chronic inflammation. In contrast, trans-18:2 fatty acids were positively associated with high triacylglycerol (p(trend) < 0.001) and LDL-cholesterol (p(trend) = 0.03) levels, but not with diabetes and other cardiometabolic risk factors. CONCLUSIONS/INTERPRETATION: Among middle-aged and older Chinese individuals with overall low erythrocyte TFAs levels, trans-18:1 might serve as a marker of dairy intake. Higher trans-18:1 levels were associated with a lower risk of type 2 diabetes, whereas higher trans-18:2 levels were associated with dyslipidaemia.

The polymorphism -2548G/A in leptin and severity of chronic obstructive pulmonary disease.

Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory disease characterized by airway obstruction that is not fully reversible, and there is evidence of a hereditary component in COPD. We aimed to determine whether the polymorphisms -2548G/A of leptin (LEP) gene were associated with COPD and its severity in Chinese. A total of 456 subjects with COPD and 422 healthy controls from West China Hospital were enrolled in this study. COPD patients had been undergone a spirometry and a physical examination to refer the GOLD I-IV stages. The polymorphisms in the leptin promoter region at position -2548G/A were detected by Polymerase chain reaction-restriction fragment length polymorphism analysis. The genotypes and alleles were scored, and the frequencies of the alleles and genotypes in patients and controls were compared. A significantly higher risk for COPD was observed for carriers of the LEP -2548AA genotype [odds ratio (OR)=7.87, 95% confidence interval (CI) 4.19-14.77, P<0.001] and carriers of the LEP -2548GA genotype (OR=2.98, 95% CI 1.57-5.66, P=0.001). The LEP -2548A allele: frequency was significantly higher in the patient group compared with the control group (OR=2.75, 95% CI: 2.20-3.44, P<0.001). We also found a significant relationship between leptin gene polymorphism and the severity of COPD. In the present case-control study, we found an association between the -2548G/A variant of the leptin gene and pathogenesis, severity of COPD in the Chinese population. It suggests that leptin -2548G/A should be used as a genetic marker of COPD severity.