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The domestication of ducks represents a pivotal evolutionary shift from the unguided propagation of wild species to deliberate human-mediated selection, culminating in distinct behavioural, morphological, and physiological traits that differentiate domesticated ducks from their wild counterparts. This transition has yielded breeds with traits fine-tuned to specific economic roles, such as egg production, meat yield, or dual-purpose functionality. Duck domestication plays a significant role in poultry production globally, meeting the growing demand for eggs and meat in various regions. Here, we focus on the Jinding Duck (JDD), a breed renowned for its prolific egg-laying traits. Employing whole-genome resequencing data from 325 individuals across five Chinese indigenous duck breeds, we aimed to dissect the unique population structure and assess the genetic diversity within the JDD cohort. The findings reveal the distinct genetic heritage of JDD, diverged from other domesticated breeds, and show a relative paucity of genetic diversity. A salient discovery was a 200 kb genomic interval containing three genes (NCF2, SMG7, and ARPC5) with almost exclusive haplotypes, which were inherited from Anas platyrhynchos or Anas zonorhyncha, impacting the morphological attributes of JDD. The study highlights a c.28G>A non-synonymous mutation in the first exon of the LAMC1 gene, which is potentially influencing feather morphology in JDD. Our findings suggest that unique blue eggshell colouration in JDD is likely attributable to variations within the promoter element of the ABCG2 gene, distinguishing it from other breeds. Moreover, the MAP7 and FHL1 genes emerge as significant factors in the laying performance of JDD. These genetic insights are not only crucial for improving the JDD breed but also provide valuable information that could be applied to duck breeding programmes worldwide, helping enhance productivity and meet international demands for high-efficiency poultry breeds., (Copyright © 2024. Published by Elsevier B.V.)

Objective: To investigate the pathogen species, composition, and distribution characteristics of infectious keratitis pathogens in Shandong Province and its surrounding areas. Methods: In this cross-sectional study, patients with keratitis who underwent corneal sampling and microbiological culture at the Shandong Eye Hospital from January 1, 2018 to December 31, 2022 were included. Under topical anesthesia, the edge of the lesion was scraped by an experienced physician. The samples were inoculated on blood agar and Sabouraud dextrose agar plates, separately for bacterial and fungal culture and identification. If necessary, the samples were inoculated on a non-nutrient agar medium with Escherichia coli for Acanthamoeba culture. Bacterial isolates were identified using Vitek 2 compact or matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Fungal isolates were identified based on morphological characteristics or sent to a company for sequencing in cases of difficult identification. The epidemiological data of the patients, pathogen species and number (counting as 1 strain if the same strain was isolated from multiple corneal specimens of the same patient), culture positivity rate, and seasonal distribution were recorded. Differences in pathogen positivity rates among different seasons were analyzed using the chi-square test. Results: Among the 4, 024 patients with infectious keratitis during the study period, there were 2 510 males (62.3%) and 1 514 females (37.6%), aged from 46 days to 94 years. Positive microbial culture results were achieved in 2, 363 patients (58.7%), including 906 cases (38.3%) with bacterial positivity, 1 231 cases (52.1%) with fungal positivity, 28 cases (1.2%) with Acanthamoeba positivity, and 198 cases (8.4%) with mixed fungal and bacterial infections. A total of 2 561 strains were isolated, including 1 104 bacterial strains. The most common bacteria were coagulase-negative Staphylococcus spp. (623/1 104, 56.4%), followed by Streptococcus spp. (131/1 104, 11.9%) and Pseudomonas aeruginosa (68/1 104, 6.2%). The most common fungi were Fusarium spp. (634/1 429, 44.4%), followed by Aspergillus spp. (279/1 429, 19.5%) and Alternaria spp. (229/1 429, 16.0%). Bacterial keratitis was more common in summer and autumn, while fungal keratitis was more common in autumn and winter. Conclusions: Among infectious keratitis cases in Shandong Eye Hospital, Fusarium species were predominant fungal pathogens, while coagulase-negative Staphylococcus predominated in bacterial pathogens. Both fungal and bacterial corneal infections showed seasonal variations.

Background: Neoadjuvant nivolumab plus chemotherapy significantly improved event-free survival (EFS) and pathologic complete response (pCR) versus chemotherapy alone in patients with resectable non-small-cell lung cancer (NSCLC) in the global phase III CheckMate 816 study. Here, we report post hoc exploratory efficacy, safety, and surgical outcomes in the Chinese subpopulation of this study., Methods: Adults with stage IB-IIIA resectable NSCLC were randomized to receive nivolumab 360 mg plus chemotherapy or chemotherapy alone every 3 weeks for three cycles followed by surgery. Primary endpoints included EFS and pCR (both per blinded independent review). EFS and pCR results were from 14 October 2022, and 16 September 2020, database locks, respectively., Results: The Chinese subpopulation comprised 97 patients (nivolumab plus chemotherapy, 44; chemotherapy, 53). At 38.2 months of minimum follow-up, median EFS was not reached [95% confidence interval (CI) 23.4 months-not reached] in the nivolumab plus chemotherapy arm and 13.9 months (95% CI 8.3-34.3 months) in the chemotherapy arm (hazard ratio 0.47, 95% CI 0.25-0.88). pCR rates were 25.0% (95% CI 13.2% to 40.3%) and 1.9% (95% CI 0.0% to 10.1%), respectively (odds ratio 11.05; 95% CI 1.41-86.49). Of 97 Chinese patients, 36 (82%) in the nivolumab plus chemotherapy arm and 41 (77%) in the chemotherapy arm underwent definitive surgery. Grade 3-4 treatment-related adverse events occurred in 18/43 patients (42%) treated with nivolumab plus chemotherapy and 22/53 patients (42%) treated with chemotherapy., Conclusions: Consistent with findings in the global study population of CheckMate 816, neoadjuvant nivolumab plus chemotherapy improved EFS and pCR versus chemotherapy in the Chinese subpopulation without impacting treatment tolerability or the feasibility of surgery. These findings support the use of nivolumab plus chemotherapy as a standard neoadjuvant treatment option for Chinese patients with resectable NSCLC., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

1. The objective of this study was to investigate the evolution of SCNN1B and AHCYL1 proteins among 10 domestic avian and mammalian animal species, to uncover the expression patterns of SCNN1B and AHCYL1 genes in ducks, identify the genetic variants of the SCNN1B and AHCYL1 genes and analyse their effects on eggshell quality.2. Expression profiles of the SCNN1B and AHCYL1 genes in Sansui female ducks were determined using real-time fluorescence quantitative PCR to identify SNPs. The duck SCNN1B and AHCYL1 genes were amplified to identify SNPs. A total of 502 Sansui female ducks were genotyped by sequencing, and the associations between the mRNA expression/SNP genotypes and 6 eggshell quality indices were analysed using PASW Statistics 18.0.3. The results showed that the SCNN1B and AHCYL1 proteins are highly conserved in different mammalian or domestic animals, especially the AHCYL1 protein. The SCNN1B and AHCYL1 genes were widely expressed in different tissues of male and female ducks, and expression level in the uterus was greater than in other tissues. The expression of SCNN1B and AHCYL1 during the oviposition cycle indicated that expression levels were related to the eggshell mineralisation stage.4. The mRNA expression levels of the uterine SCNN1B and AHCYL1 genes were positively correlated with eggshell strength (ESS), percentage (ESP) and weight (ESW) ( P < 0.05), respectively. Ten novel SNPs in SCNN1B and AHCYL1 genes from Chinese domestic laying ducks were identified through PCR amplicon sequencing.5. Genetic association analysis indicated g.797509 C > T, g.797573 C > T and g.797834 C > T in SCNN1B gene and g.169244 T > A, g.169265 T > C and g.175311 T > C in AHCYL1 gene had a significant effect on eggshell quality. Correlation analysis between the SNP genotype and SCNN1B and AHCYL1 genes expression in the uterus showed that the genotypes of g.797509 C > T, g.797573 C > T, g.797834 C > T, g.169244 T > A and g.175311 T > C sites affected the expression of SCNN1B and AHCYL1 genes in utero ( P < 0.05).6. The study indicated SCNN1B and AHCYL1 as candidate genes to improve eggshell traits in ducks.

Objective: To explore the level and influencing factors of treatment costs for patients with pneumoconiosis, and to provide a basis for reducing the economic burden of patients with pneumoconiosis and optimizing the rational allocation of medical resources. Methods: In August 2020, the multi-stage stratified sampling method was used to obtain the treatment cost information of pneumoconiosis patients from January to December 2018 in 1123 sample medical institutions. The average cost per time of 2178 outpatients and 7425 inpatients was described, and the differences in the distribution of hospitalization costs for patients with pneumoconiosis were compared by one-way analysis of variance, and a multiple linear regression model was constructed to analyze the influencing factors of hospitalization costs for patients with pneumoconiosis. Results: The average cost of outpatients with pneumoconiosis was 465.88 yuan, and the average cost of inpatients was 12280.63 yuan. There were statistically significant differences in hospitalization expenses among different age, institution level, institution type, length of hospital stay and type of insured ( F =10.49, 402.92, 416.35, 2390.48, 1298.14, P <0.001) . Age, length of hospital stay, reimbursement ratio, and institution level were influencing factors of the total hospitalization expenses of patients with pneumoconiosis ( t =5.27, 62.20, 22.35, 21.20, P <0.001) . Conclusion: Patients with pneumoconiosis have a heavy burden of treatment costs. Age, length of hospital stay, institution level and reimbursement ratio are the main influencing factors of hospitalization costs. It is recommended to strengthen the prevention and treatment of key populations, standardize the use of medical insurance, and promote the rational allocation of medical resource to reduce the cost burden of pneumoconiosis patients.

Background: Dupilumab is an antibody against interleukin-4 receptor α, used in the treatment of atopic dermatitis (AD)., Objectives: To evaluate the efficacy and safety of dupilumab in adult Chinese patients with moderate-to-severe AD., Methods: In this randomized, double-blind, placebo-controlled, parallel-group, phase III study, conducted between December 2018 and February 2020, patients with AD received dupilumab (300 mg) or placebo once every 2 weeks for 16 weeks, and were followed up for 12 weeks. The primary efficacy endpoint was the proportion of patients with both an Investigator's Global Assessment score of 0-1 and a reduction from baseline of ≥ 2 points at week 16., Results: Overall, 165 patients (mean age 30·6 years; 71·5% male patients) were randomized; 82 patients were randomized to dupilumab and 83 patients were randomized to placebo. At week 16, 26·8% of patients in the dupilumab group and 4·8% of patients in the placebo group achieved the primary endpoint [difference 22·0%, 95% confidence interval (CI) 11·37-32·65; P < 0·001]. Compared with placebo, higher proportions of patients in the dupilumab group achieved ≥ 75% reduction in the Eczema Area and Severity Index score (57·3% vs. 14·5%; difference 42·9%, 95% CI 29·75-55·97; P < 0·001) and had ≥ 3-point (52·4% vs. 9·6%; difference 42·8%, 95% CI 30·26-55·34; P < 0·001) and ≥ 4-point (39·0% vs. 4·8%; difference 34·2%, 95% CI 22·69-45·72; P < 0·001) reductions in weekly average daily peak daily pruritus numerical rating scale scores. The incidence of treatment-emergent adverse events during the treatment period was similar in the two groups. The incidence of conjunctivitis, allergic conjunctivitis and injection site reaction was higher in the dupilumab group than in the placebo group., Conclusions: In adult Chinese patients, dupilumab was effective in improving the signs and symptoms of AD and demonstrated a favourable safety profile., (© 2021 Sanofi. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)

Some traditional Chinese decoctions, such as Zhuyu Annao, exert favorable therapeutic effects on acute cerebral hemorrhage, hemorrhagic stroke, and other neurological diseases, but the underlying mechanism remains unclear. This study aimed to determine whether Zhuyu Annao decoction (ZYAND) protects the injured brain by promoting angiogenesis following intracerebral hemorrhage (ICH) and elucidate its specific mechanism. The effect of ZYAND on the nervous system of mice after ICH was explored through behavioral experiments, such as the Morris water maze and Rotarod tests, and its effects on oxidative stress were explored by detecting several oxidative stress markers, including malondialdehyde, nitric oxide, glutathione peroxidase, and superoxide dismutase. Real-time quantitative RT-PCR and WB were used to detect the effects of ZYAND on the levels of prolyl hydroxylase domain 3 (PHD3), hypoxia-inducible factor-1α (HIF-1α), and vascular endothelial growth factor (VEGF) in the brain tissues of mice. The effect of ZYAND on the NF-κB signaling pathway was detected using a luciferase reporter gene. A human umbilical cord vascular endothelial cell angiogenesis experiment was performed to determine whether ZYAND promotes angiogenesis. The Morris water maze test and other behavioral experiments verified that ZYAND improved the neurobehavior of mice after ICH. ZYAND activated the PHD3/HIF-1α signaling pathway, inhibiting the oxidative damage caused by ICH. In angiogenesis experiments, it was found that ZYAND promoted VEGF-induced angiogenesis by upregulating the expression of HIF-1α, and NF-κB signaling regulated the expression of HIF-1α by inhibiting PHD3. ZYAND exerts a reparative effect on brain tissue damaged after ICH through the NF-κB/ PHD3/HIF-1α/VEGF signaling axis.

Objective: To explore the incidence and age distribution of fundus abnormalities in pediatric patients aged 0-3 years in northwest China. Methods: A retrospective study of the clinical data of 8808 pediatric patients aged 0-3 years who underwent fundus examination with a wide-filed digital retinal imaging system and an indirect ophthalmoscope in our hospital from January 2008 to December 2019 were performed. There were 5092 males and 3716 females, with a median age of 1 month (range, 3 days to 3 years), a mean gestational age of 34.32 (SD 2.92) weeks (range, 24 to 42 weeks) and a mean birth weight of 2006.92 (SD 709.23) g (range, 490 to 5500 g), from Shaanxi Province (7415 cases, 84.18%), Gansu Province (770 cases, 8.74%), Ningxia Hui Autonomous Region (94 cases, 1.07%), Qinghai Province (53 cases, 0.60%), Xinjiang Uygur Autonomous Region (14 cases, 0.16%) and other neighboring areas (462 cases, 5.25%). The fundus condition of the enrolled pediatric patients was documented to calculate the annual detection rate. The joinpoint regression model was drawn to estimate the annual percent change and average annual percent change. The constituent ratios and age distribution of different types of fundus abnormalities were finally analyzed. Results: Fundus abnormalities were detected in 2 531 cases (28.74%). During the 12 years, the number of pediatric patients undergoing fundus examination each year in our center increased rapidly in the first 7 years, and then kept almost stable, while the number of fundus abnormality cases increased year by year. The positive detection rate showed an overall upward trend with an average annual percent change of +7.2%, and it was +30.09% from 2016 to 2019. Among all the pediatric patients with fundus abnormalities, there were 1 678 cases with developmental diseases (66.30%), 232 cases with hereditary diseases (9.16%), 140 cases with ocular tumor (5.53%), 64 cases with ophthalmic manifestations of systemic diseases (2.53%), 31 cases with ocular trauma (1.23%), 12 cases with infectious diseases or inflammation (0.48%) and 438 cases with other ocular abnormalities (17.31%). The top 5 abnormalities were retinopathy of prematurity (ROP; 1477 cases, 58.36%), gray patchy retinopathy (225 cases, 8.89%), retinal hemorrhage (157 cases, 6.20%), retinoblastoma (137 cases, 5.41%) and familial exudative vitreoretinopathy (77 cases, 3.04%). Fundus abnormalities varied with age. ROP, developmental diseases other than ROP, hereditary diseases, ocular trauma and infectious diseases were mostly detected in pediatric patients at 0-6 months old, while tumors were mostly detected after 1 year old. Conclusions: The detection rate of fundus abnormalities in the Department of Ophthalmology of Xijing Hospital of Air Force Medical University, a tertiary referral center in northwest China, increased notably year by year. The abnormalities were mainly developmental and hereditary lesions as well as of certain age distribution. They occurred with the highest frequency between birth and 6 months of age, in which ROP was in the ascendancy. Meanwhile, the detection rate of other developmental, hereditary and neoplastic disorders increased with age. Therefore, a comprehensive and objective understanding of the fundus disease in infants is essential. (Chin J Ophthalmol, 2021, 57: 777-783) .

Study Question: What is the true incidence of chromosomal mosaicism in embryos analyzed by preimplantation genetic testing (PGT)., Summary Answer: The true incidence of chromosomal mosaicism is much lower than we usually surmise., What Is Known Already: In recent years, contemporary methods for chromosome analysis, along with the biopsy of more than one cell, have given rise to an increased rate of chromosomal mosaicism detection after preimplantation genetic testing for aneuploidy. However, the exorbitant incidence of mosaicism represents a dilemma and imposes restrictions on the application of PGT treatment. Concern has been raised about the possibility that the incidence of chromosomal mosaicism is overestimated and quite a few of the results are false-positive errors. However, studies verifying the diagnosis of chromosomal mosaicism and assessing the true incidence of chromosomal mosaicism are limited., Study Design, Size, Duration: A total of 1719 blastocysts from 380 patients who underwent PGT treatment were retrospectively analyzed to evaluate the typical incidence of mosaicism. Then 101 embryos donated by 70 couples were re-biopsied and dissected into three portions if available: trophectoderm (TE), inner cell mass (ICM), and the remaining portions. All the portions were tested using next-generation sequencing (NGS), and the results were compared to the original diagnosis., Participants/materials, Setting, Methods: The setting for this study was a university-affiliated center with an in-house PGT laboratory. All samples were amplified with multiple annealing and looping-based amplification cycles (MALBACs) and the NGS was carried out on a Life Technologies Ion Proton platform., Main Results and the Role of Chance: A clinical TE biopsy revealed an incidence of 11.9% for diploid-aneuploid mosaicism (DAM), 17.3% for aneuploid mosaicism (AM) and 29.1% in total. After rebiopsy, 94.1% whole-chromosome aneuploidies and 82.8% segmental-chromosome aneuploidies were confirmed in the embryos. As for the mosaic errors, only 32 (31.7%) out of 101 embryos presented with uniform chromosomal aberrations in agreement with the original biopsy results, 15 (14.8%) embryos presented with de novo chromosomal aberrations, and 54 (53.5%) embryos showed a euploid profile in all portions. Among the 32 uniform embryos, the true mosaicism was confirmed in only 4 cases, where a reciprocal chromosomal aberration was identified; 14 embryos presented with identical mosaicism, providing the moderate evidence for true mosaicism; and 14 embryos displayed uniform full aneuploidies in all portions of embryo, revealing a high-grade mosaicism or a false-negative diagnosis. Logistical regression analysis revealed that the concordance rate with ICM was associated with the type and level of mosaicism. The concordance rate of segmental-chromosome mosaicism was significantly lower than whole-chromosome mosaicism (adjusted Odds Ratio (aOR): 5.137 (1.061, 24.876), P = 0.042) and compared to DAM, the concordance rate of AM was significantly higher (aOR: 6.546 (1.354, 31.655), P = 0.019). The concordance rate also increased with increasing levels of mosaicism (P < 0.001)., Limitations, Reasons for Caution: This study was limited by a small sample size and the use of a single whole-genome amplification (WGA) method and NGS platform. These findings are only applicable to samples subjected to MALBAC amplification and Ion Proton platform, and studies involving larger sample sizes and multiple WGA methods and NGS platforms are required to prove our findings., Wider Implications of the Findings: TE biopsy is reliable to detect whole-chromosome aneuploidies, but the ability to diagnose mosaicism is doubtful. More attention should be paid to false-positive and false-negative errors in NGS-based PGT, especially for laboratories using less stringent criteria for mosaicism classification (i.e. 20-80%), which might be subject to a much higher false-positive mosaicism rate in the practice., Study Funding/competing Interest(s): This study was supported by grants from the National Key R&D Program of China (No. 2016YFC1000206-5) and the National Natural Science Foundation of China (No. 81701509)., Trial Registration Number: N/A., (© The Author(s) 2021. Published by Oxford University Press on behalf of European Society of Human Reproduction and Embryology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Objective: To analyze the distribution characteristics of the anterior corneal astigmatism in 140 000 cataract patients from 18 hospitals in China. Methods: Retrospective study. A total of 143 889 patients (143 889 right eyes) over the age of 40 years with age-related catarac were admitted to 18 Aier eye hospitals in China from July 2015 to October 2018. The average values of the three measurements of the magnitude of anterior corneal astigmatism, the meridian of corneal astigmatism, anterior chamber depth, corneal refractive power, and axial length measured by IOLMaster 500 were obtained. The data acquisition method of each sub-center was to collect and analyze the electronic case data in accordance with the inclusion and exclusion criteria, and to provide them for the sponsor Wuhan Aier Eye Hospital. Non-normal distribution data are presented as M ( P 25 , P 75 ). Mann-Whitney test, Kruskal-Wallis test, Chi-square test were used to analyze the distribution differences of the magnitude of corneal astigmatism and the meridian of corneal astigmatism in gender, age, anterior chamber depth, corneal refractive power and axial length. Results: Among the 143 889 patients, 84 319 were females and 59 570 were males, the median age was 72 (65, 78) years old, the median corneal astigmatism was 0.84 (0.51, 1.33) D; the corneal astigmatism was ≥0.75 D in 80 895 patients (56.22%) and was ≥1.00 D in 57 304 patients (39.83%). The median corneal astigmatism was 0.87 (0.53, 1.37) D in women and 0.82 (0.50, 1.29) D in men; with statistical difference ( U =-14.891; P <0.05). The proportion of with-the-rule (WTR) astigmatism was 33.26% (28 046/84 319) for women and 34.26% (20 408/59 570) for men; The proportion of against-the-rule (ATR) astigmatism was 49.08% (41 385/84 319) for women and 46.91% (27 945/59 570) for men, with statistical difference (χ²=70.913; P <0.05). With the increase of age, the magnitude of corneal astigmatism first decreased from 0.94 (0.57, 1.48) D to 0.75 (0.46, 1.18) D, and then increased to 1.19 (0.74, 1.79) D, with statistical difference ( H =1 263.438; P <0.05), and the change was at 61 to 70 years old. With the increase of age, the proportion of WTR astigmatism decreased from 77.50% (396/511) to 12.50% (3/24), the proportion of ATR astigmatism increased from 11.15% (57/511) to 79.07% (34/43), and the proportion of oblique astigmatism changed little from 17.02% (16/94) to 19.92% (245/1 230), the distribution difference was significant (χ²=10 174.496; P <0.05). As the anterior chamber became shallow, the magnitude of corneal astigmatism significantly increased from 0.82 (0.51, 1.31) D to 1.05 (0.61, 1.56) D, and the proportion of ATR astigmatism increased from 47.32% (60 207/127 227) to 51.69% (184/356) ( H =409.961, χ²=120.995, both P <0.05). With the corneal refractive power rising, the magnitude of corneal astigmatism increased from 0.80 (0.49, 1.33) D to 0.95 (0.58, 1.53) D, the proportion of ATR astigmatism decreased from 52.84% (4 963/9 392) to 39.97% (9 023/22 577); the difference was significant ( H =808.562, χ²=752.147, both P <0.05). When the axial length was>25.00 mm, the magnitude of corneal astigmatism was highest [1.04 (0.62, 1.65) D], and the proportion of ATR astigmatism was also highest [49.00% (10 964/22 376)]; the difference was significant ( H =2 071.198, χ²=131.130, all P <0.05). Conclusions: The meridian of corneal astigmatism in middle-aged and elderly cataract patients is mainly ATR astigmatism. With the increasing of age, the magnitude of corneal astigmatism decreases first and then increases. The turning point from the proportion of WTR astigmatism to the proportion of ATR astigmatism is 65 years old. The shallower the anterior chamber is, the more the magnitude of corneal astigmatism and the proportion of ATR astigmatism increase. When the axial length is>25.00 mm, both the magnitude of corneal astigmatism and the proportion of ATR astigmatism reach the peak. (Chin J Ophthalmol, 2021, 57: 56-62) .

Objective: To evaluate the clinical feasibility of noninvasive prenatal diagnosis (NIPD) for β-thalassaemia using circulating single molecule amplification and re-sequencing technology (cSMART)., Design: Through carrier screening, 102 pregnant Chinese couples carrying pathogenic HBB gene variants were recruited to the study. Pregnancies were managed using traditional invasive prenatal diagnosis (IPD). Retrospectively, we evaluated the archived pregnancy plasma DNA by NIPD to evaluate the performance of our cSMART assay for fetal genotyping., Setting: Chinese prenatal diagnostic centres specialising in thalassaemia testing., Population: Chinese carrier couples at high genetic risk for β-thalassaemia., Methods: Fetal cell sampling was performed by amniocentesis and HBB genotypes were determined by reverse dot blot. NIPD was performed by a newly designed HBB cSMART assay and fetal genotypes were called by measuring the allelic ratios in the maternal cell-free DNA., Main Outcome Measures: Concordance of HBB fetal genotyping between IPD and NIPD and the sensitivity and specificity of NIPD., Results: Invasive prenatal diagnosis identified 29 affected homozygotes or compound heterozygotes, 54 heterozygotes and 19 normal homozygotes. Compared with IPD results, 99 of 102 fetuses (97%) were correctly genotyped by our NIPD assay. Two of three discordant samples were false positives and the other sample involved an incorrect call of a heterozygote carrier as a homozygote normal. Overall, the sensitivity and specificity of our NIPD assay was 100% (95% CI 88.06-100.00%) and 97.26% (95% CI 90.45-99.67%), respectively., Conclusions: This study demonstrates that our cSMART-based NIPD assay for β-thalassaemia has potential clinical utility as an alternative to IPD for pregnant HBB carrier couples., Tweetable Abstract: A new noninvasive test for pregnancies at risk for β-thalassaemia., (© 2020 Royal College of Obstetricians and Gynaecologists.)

Objective: To evaluate the efficacy and the related factors of percutaneous transluminal renal angioplasty (PTRA) for pediatric renovascular hypertension (RVH) by a systematic review and meta-analysis. Methods: A systematic search was performed on international and domestic databases (Pubmed, Excerpt Medical Database (EMBASE), Cochrane library, Clinical trial.gov, Medline, China Biology Medicine (CBM), China national knowledge infrastructure (CNKI), VIP database and Wanfang) which included studies on PTRA for pediatric RVH from the establishment of the databases to March 2019. Key words of "pediatric" "children" "renal artery stenosis" "renovascular hypertension" "angioplasty" and "intervention" were used. Meta-analysis was made on the rate of technical success, clinical blood pressure improvement, complication and restenosis of PTRA as well as the predictors of its efficacy. The data consolidation, analysis of heterogeneity and sensitivity, and publication bias were performed using Comprehensive meta analyst and Open meta analyst software. Results: Seventeen observational non-controlled studies comprising 384 patients with RVH who underwent PTRA were identified. The technical success rate of PTRA was 93.9% (95% confidence interval ( CI ) 89.3%-97.5%). The improvement rate of blood pressure was 68.4% (95% CI 57.2%-78.7%), and the cure rate was 40.0% (95% CI 25.0%-55.8%). The subsequent subgroup analysis showed that there was no significant difference in the improvement rate of blood pressure after PTRA among the patients with RVH caused by fibromuscular dysplasia, Takayasu arteritis and neurofibromatosis type 1, respectively ( P >0.05). The improvement rate of blood pressure in patients with combined lesions in renal artery branches was significantly lower than that in patients with lesions only in main renal artery ( RR =1.659, 95% CI 1.023-2.689, P =0.040). It was found that 25.5% (95% CI 19.3%-32.2%) of patients required repeat procedure because of restenosis of lesions. Procedural complication of PTRA occurred in 8.3% (95% CI 3.5%-14.4%) of patients. In terms of clinical blood pressure improvement rate after PTRA, there was heterogeneity among the enrolled studies, but the results of meta-analysis were robust with low risk of publication bias ( t =1.690, 95% CI -0.363-3.124, P =0.110). Conclusion: The result of the Meta-analysis suggests that PTRA may provide a safe and effective treatment for pediatric RVH, and patients with stenosis of renal arterial branches are associated with relatively poor clinical outcomes.

Objective: This study was designed to evaluate the efficacy of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) for adult-onset primary hemophagocytic lymphohistiocytosis (HLH) . Method: A retrospective study was carried out to analyze the clinical data of 15 adult patients with primary HLH who received haplo-HSCT from January 2013 to October 2019 in Beijing Friendship Hospital, Capital Medical University, Beijing, China. Results: Among the 15 patients included in the study, ten were males and five were females, with a median age of 21 years old (18-52) . Eight of the patients had familial hemophagocytic lymphohistiocytosis type 2 (FHL-2) , four had FHL-3, one had Griscelli syndrome type 2 (GS-2) , one had X-linked lymphoproliferative disease type 1 (XLP-1) , and the other had XLP-2. The median time from HLH diagnosis to transplantation was 7 months (2-46 months) . Seven patients were treated with Bu/Cy condition regimen prior to transplantation. Meanwhile, the other eight cases were treated with TBI/Cy. The median concentration of mononuclear cell (MNC) infusion was 12.6 (9.2-20.3) ×10(8)/kg and CD34(+) cells was 4.91 (2.51-8.37) ×10(6)/kg. The median time of leukocyte engraftment was on day 13 following transplantation (10-23 days) , and the platelet engraftment was on day 12 (9-36) . Graft failure (GF) finally occurred in two patients (one primary GF and one secondary GF) . The cumulative incidence of acute graft-versus-host-disease (GVHD) grades 2 to 4 was 71.4% (10/14) and chronic GVHD was 30.8% (4/13) , respectively. The five-year overall survival (OS) for all 15 cases of primary HLH was 65.5% (95% CI , 34.9%-73.3%) and the transplant-related mortality (TRM) was 26.7% (4/15) . The five-year OS was 87.5% (95% CI , 38.7%-66.3%) in eight patients who received haplo-HSCT subsequent to initial therapy and 42.9% (95% CI , 8.5%-65.2%) in patients seven patients who needed salvage therapy prior to haplo-HSCT ( χ (2)=2.387, P =0.122) . The five-year OS was 85.7% (95% CI , 50.4%-89.8%) in eight patients who achieved complete response before haplo-HSCT and 42.9% (95% CI , 6.4%-53.0%) in seven patients with partial response ( χ (2)=3.185, P =0.074) . Conclusion: The results indicated that haplo-HSCT is a promising method for the treatment of primary HLH in adults.

Background: Adenosquamous carcinoma (ASC) of the lung is a heterogeneous disease that is composed of both adenocarcinoma components (ACC) and squamous cell carcinoma components (SCCC). Their genomic profile, genetic origin, and clinical management remain controversial., Patients and Methods: Resected ASC and metastatic tumor in regional lymph nodes (LNs) were collected. The ACC and SCCC were separated by microdissection of primary tumor. The 1021 cancer-related genes were evaluated by next-generation sequencing independently in ACC and SCCC and LNs. Shared and private alterations in the two components were investigated. In addition, genomic profiles of independent cohorts of adenocarcinomas and squamous cell carcinomas were examined for comparison. We have also carried out a retrospective study of ASCs with known EGFR mutation status from 11 hospitals in China for their clinical outcomes., Results: The most frequent alterations in 28 surgically resected ASCs include EGFR (79%), TP53 (68%), MAP3K1 (14%) mutations, EGFR amplifications (32%), and MDM2 amplifications (18%). Twenty-seven patients (96%) had shared variations between ACC and SCCC, and pure SCCC metastases were not found in metastatic LNs among these patients. Only one patient with geographically separated ACC and SCCC had no shared mutations. Inter-component heterogeneity was a common genetic event of ACC and SCCC. The genomic profile of ASC was similar to that of 170 adenocarcinomas, but different from that of 62 squamous cell carcinomas. The incidence of EGFR mutations in the retrospective analysis of 517 ASCs was 51.8%. Among the 129 EGFR-positive patients who received EGFR-TKIs, the objective response rate was 56.6% and the median progression-free survival was 10.1 months (95% confidence interval: 9.0-11.2)., Conclusions: The ACC and SCCC share a monoclonal origin, a majority with genetically inter-component heterogeneity. ASC may represent a subtype of adenocarcinoma with EGFR mutation being the most common genomic anomaly and sharing similar efficacy to EGFR TKI., Competing Interests: Disclosure TSKM reports grants and personal fees from AstraZeneca, Roche/Genentech, Bristol-Myers Squibb, Boehringer Ingelheim, Novartis, Merck Sharp and Dohme, Pfizer, SFJ Pharmaceuticals, Clovis Oncology, and Taiho; personal fees from Eli Lilly, Merck Serono, Vertex, ACEA Biosciences, Oncogenex, Celgene, and Ignyta; an uncompensated relationship with geneDecode and Cirina; grants from Eisai; and ownership of stock in Samomics Ltd. The remaining authors declare no conflicts of interest., (Copyright © 2020 European Society for Medical Oncology. Published by Elsevier Ltd. All rights reserved.)

Objective: To assess the diagnostic performance of a novel circulating single molecule amplification and re-sequencing technology (cSMART) method for noninvasive prenatal testing (NIPT) of Phenylketonuria (PKU)., Design: Blinded NIPT analysis of pregnancies at high risk for PKU., Setting: Shanghai Xinhua Hospital and Hunan Jiahui Genetics Hospital, China., Population: Couples (n = 33) with a child diagnosed with PKU., Methods: Trio testing for pathogenic PAH mutations was performed by Sanger sequencing. In second pregnancies, invasive prenatal diagnosis (IPD) was used to determine fetal genotypes. NIPT was performed using a PAH gene-specific cSMART assay. Based on the plasma DNA mutation ratio relative to the fetal DNA fraction, fetal genotypes were assigned using a maximum-likelihood algorithm., Main Outcome Measures: Concordance of fetal genotyping results between IPD and NIPT, and the sensitivity and specificity of the NIPT assay., Results: Compared with gold standard IPD results, 32 of 33 fetuses (96.97%) were accurately genotyped by NIPT. The sensitivity and specificity of the NIPT assay was 100.00% (95% CI 59.04-100.00%) and 96.15% (95% CI 80.36-99.90%), respectively., Conclusions: The novel cSMART assay demonstrated high accuracy for correctly calling fetal genotypes. We propose that this test has useful clinical utility for the rapid screening of high-risk and low-risk pregnancies with a known history of PKU on one or both sides of the family., Tweetable Abstract: NIPT of couples at high risk for PKU using a full-coverage cSMART PAH gene test., (© 2019 Royal College of Obstetricians and Gynaecologists.)

Objective: The objective of this paper is to assess the role of gender on survival rate and causes of death and organ damage in systemic lupus erythematosus (SLE) patients in China from 2009 to 2015., Methods: We conducted a multicenter cohort study to analyze the differences in outcome data between male and female SLE patients. A group of 1494 SLE patients who fulfilled the 1997 American College of Rheumatology SLE classification criteria were enrolled in the Chinese Systemic Lupus Erythematosus Treatment and Research Group (CSTAR) registry from April 2009 to February 2010. All enrolled patients were followed up at least once per year from 2009 to 2015. For patients who could not attend the outpatient clinic, follow-up was conducted by telephone interview. We collected demographic data, clinical manifestations and damage scores (System Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI)). Survival rates were evaluated using the Kaplan-Meier method., Results: This study included 1352 women and 142 men. The five-year survival rates were 92.0% for men and 97.6% for women. The survival rates of males were significant lower than for females ( p = 0.019). Male patients received methylprednisolone pulse therapy and cyclophosphamide significantly more than female patients ( p = 0.010). During follow-up, 12 male patients and 66 female patients died. The most common cause of death was infection (41.7%) for men and active SLE disease (27.3%) for women. At the end of the study, the major accumulated organ damages included renal (8.5%) and musculoskeletal (7.7%), and nervous system (5.6%) for men and renal (8.8%) and musculoskeletal (6.7%) for women. There were no significant differences in SDI scores between the two groups at baseline and at the end of the study., Conclusions: Male SLE patients had lower survival rates than female patients. Male patients received more methylprednisolone pulse and cyclophosphamide therapy. The most common causes of death were infection for male patients and active SLE disease for female patients. The major accumulated organ damages were renal, musculoskeletal, and nervous system both for male and female SLE patients in China.

Objective: This study aimed to assess the prevalence and factors associated with pelvic organ prolapse (POP) in a representative sample of Chinese urban women. Methods: A total of 29613 Chinese urban women were recruited to this cross-sectional study between February 2014 and March 2016. The prevalence of POP, defined as any stage Ⅱ or higher POP resulting in symptoms, was assessed using questionnaires and physical examinations. Multivariable logistic regression was used to assess factors associated with POP. Results: 2 864 of 29 613 women (9.67%) had POP. The prevalence of POP increased with age ranging from 1.23% (82/6 646) of women aged between 20 and 29 years to 26.11% (727/2 784) for those aged 70 years or older ( P< 0.000 1). Overweight and obese women were more likely to have POP than normal weight women [ AOR= 1.56, 95 %CI 1.42-1.72 vs AOR= 1.74, 95 %CI 1.48-2.03]. In the multivariate analysis, the independent risk factors were cough ( AOR= 1.70, 95 %CI 1.44-2.02), constipation ( AOR= 2.05, 95 %CI 1.82-2.32), physical disease ( AOR= 1.27, 95 %CI 1.15-1.41), and gynecological diseases ( AOR =2.08, 95 %CI 1.89-2.29). Nulliparous ( AOR= 0.12, 95 %CI 0.06-0.22) and caesarean section (CS) ( AOR= 0.55, 95 %CI 0.47-0.64) were protective factors for POP. Conclusions: POP affects nearly 10% of women in Chinese urban region. The prevalence of POP increases significantly with age. The independent risk factors for POP are body mass index, cough, constipation, physical disease and gynecological diseases. Nulliparous and CS are protective factors for POP.

Enterovirus A-71 (EV-A71) may be fatal, but the natural history, symptoms, and signs are poorly understood. This study aimed to examine the natural history of fatal EV-A71 infection and to identify the symptoms and signs of early warning of deterioration. This was a clinical observational study of fatal cases of EV-A71 infection treated at five Chinese hospitals between 1 January 2010 and 31 December 2012. We recorded and analysed 91 manifestations of EV-A71 infection in order to identify early prognosis indicators. There were 54 fatal cases. Median age was 21.5 months (Q1-Q3: 12-36). The median duration from onset to death was 78.5 h (range, 6 to 432). The multilayer perceptron analysis showed that ataxia respiratory, ultrahyperpyrexia, excessive tachycardia, refractory shock, absent pharyngeal reflex, irregular respiratory rhythm, hyperventilation, deep coma, pulmonary oedema and/or haemorrhage, excessive hypertension, tachycardia, somnolence, CRT extension, fatigue or sleepiness and age were associated with death. Autopsy findings (n = 2) showed neuronal necrosis, softening, perivascular cuffing, colloid and neuronophagia phenomenon in the brainstem. The fatal cases of enterovirus A71 had neurologic involvement, even at the early stage. Direct virus invasion through the neural pathway and subsequent brainstem damage might explain the rapid progression to death.

Background: The aim of the current study is to evaluate the prevalence, severity and possible risk factors of systemic reactions (SRs) to subcutaneous allergen immunotherapy (SCIT) in children and adolescents with asthma in Hangzhou, east China's Zhejiang province., Methods: From January 2011 to December 2016, this survey analysed the SCIT-related SRs involving 429 patients (265 children and 134 adolescents) affected by allergic asthma. Recorded data included demographics, diagnosis, patient statuses, pulmonary function testing results before and after each injection, allergen dosage, and details of SRs., Results: All patients finished the initial phase and six patients withdrew during the maintenance phase. There were 2.59% (328/12,655) SRs in all injections (3.28% in children and 1.47% in adolescents); 15.62% (67/429) patients experienced SRs (18.49% children and 10.98% adolescents). There were 54.57% SRs of grade 1; 42.37% SRs of grade 2; 3.05% SRs of grade 3; and no grades 4 or grade 5 SRs occurred in patients. Most reactions were mild, and were readily controlled by immediate emergency treatment. There was no need for hospitalisation. The occurrence of SRs was significantly higher in children than that in adolescents (p<0.01). A higher ratio of SRs was found among patients with moderate asthma., Conclusion: This retrospective survey showed that properly-conducted SCIT was a safe treatment for children and adolescents with asthma in Hangzhou, East China. Children and patients with moderate asthma may be prone to develop SRs., (Copyright © 2017 SEICAP. Published by Elsevier España, S.L.U. All rights reserved.)

Objective: To investigate the health status, functional ability, mental psychology, health care and other longevity-related characteristics of individuals aged ≥100 years as well as risk factors in Hainan province, China. Methods: China Hainan Centenarian Cohort Study (CHCCS) is a community-based, prospective cohort study to establish multi-dimensional database consisting of questionnaire findings, anthropometric parameters and biological specimens as well as imaging features. With the household registration information provided by the Department of Civil Affairs of Hainan province, a baseline survey was conducted in centenarians in 18 counties in Hainan with the oldest old in 5 counties as controls between 2014 and 2017. The survey included face to face interview, physical examination and biological specimen collection. After the baseline survey, the participants of CHCCS were followed up at an interval of 2 years to collect the information about their living status, disease status or major death causes. Results: According to the information provided by the Department of Civil Affairs of Hainan province in 2014, the survey found that 1 473 centenarians were still living. By December 2016, 1 002 of them had agreed to be surveyed. The average age of 722 centenarians with complete information in the baseline survey was (102.7±2.7) years, the majority of them were females (83.0 % ), widows (88.8 % ), in Han ethnic group (84.5 % ), lived with family members (87.8 % ), illiterates (89.7 % ) and farmers (81.0 % ). Conclusion: CHCCS has provided longevity-related information of the large longevity population and collected the valuable and rare biological specimens with great urgency to establish an interdisciplinary platform and base for longevity, senility and healthy aging research.

Objectives: To investigate the effectiveness of 10-day bismuth-containing quadruple (B-quadruple) treatment as first-line therapy in patients with Helicobacter pylori-related chronic gastritis., Methods: A randomized controlled trial was conducted from October 2011 to December 2013 in Zhejiang, China, including patients with H. pylori-related chronic gastritis who were randomly provided either 10-day omeprazole-based triple therapy (OM-triple; omeprazole 20 mg twice daily, clarithromycin 500 mg twice daily and amoxicillin 1 g twice daily) or 10-day B-quadruple therapy (OM-triple + bismuth subcitrate 120 mg four times daily). H. pylori status, pathologic findings and dyspeptic symptoms were assessed at baseline and after 3 months. The primary outcome was H. pylori eradication rates by intention-to-treat (ITT) and per-protocol (PP) analyses. The secondary outcomes were the histologic and symptomatic benefits from H. pylori eradication., Results: A total of 351 patients with H. pylori-related chronic gastritis were recruited. The eradication rates of the OM-triple and B-quadruple groups were 58.4% (108/185) and 86.1% (143/166) respectively according to ITT analysis (p <0.01). PP rates of H. pylori eradication were 63.2% (108/171) and 92.3% (143/155) respectively (p <0.01). According to the PP analysis, active and chronic inflammation in gastric mucosa was substantially improved in all treated patients (n=326). However, pathologic atrophic gastritis and intestinal metaplasia did not regress in both groups (n=326). The reduction of dyspeptic symptoms score was significantly higher in the B-quadruple group than in the OM-triple group (0.59±0.057 vs. 0.39±0.046) (p <0.01)., Conclusions: Ten-day B-quadruple therapy is more effective than OM-triple therapy as first-line therapy for patients with H. pylori-induced chronic gastritis in China., (Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.)

This study aims to investigate the association of five single nucleotide polymorphisms (SNPs) in the phosphatase and tensin homologue (PTEN) gene and additional role of gene-gene interaction with esophageal squamous cell carcinoma (ESCC), based on a Chinese case-control study. A total of 871 subjects (420 males and 451 females) were selected, including 425 ESCC cases and 446 controls. Five SNPs were selected for genotyping in the case-control study: rs2735343, rs555895, rs2299939, rs17431184 and rs701848. Logistic regression model was used to examine the association between five SNP and ESCC, and additional interaction among five SNP, odds ratio (OR) and 95% confident interval (95%CI) were calculated. All genotypes were distributed according to Hardy-Weinberg equilibrium in controls. The carriers of homozygous mutant of rs2735343 and rs701848 polymorphism revealed increased ESCC risk than those with wild-type homozygotes, and OR (95%CI) were 1.27 (1.09-2.08) and 1.45 (1.17-1.98), respectively. We also found a potential gene-gene interaction between rs2735343 and rs701848 (P = 0.0010), and a potential gene-gene interaction among all five SNP (P = 0.0107) after covariates adjustment. Subjects with TC or CC of rs2735343 and TC or CC of rs701848 genotype have highest ESCC risk, compared to subjects with TT of rs2735343 and TT of rs701848 genotype, OR (95% CI) was 2.76 (1.37-3.45) after covariates adjustment. The carriers of homozygous mutant of rs2735343 and rs701848 polymorphism revealed increased ESCC risk. We also found a potential gene-gene interaction between rs2735343 and rs701848 and a potential gene-gene interaction among all five SNPs., (© 2015 International Society for Diseases of the Esophagus.)

To investigate the role of IL-6 polymorphism (-174G/C and -572C/G) in the development of coronary artery disease (CAD), CAD patients (224) and control subjects (260) were recruited between January 2012 and December 2014. Genotyping at IL-6 -174G/C and -572C/G was conducted via polymerase chain reaction coupled to restriction fragment length polymorphism. Results indicated that several disease risk factors were significantly higher in CAD patients as compared to the control subjects. These factors include hypertension (χ2 = 20.03, P < 0.001), diabetes mellitus (χ(2) = 33.53, P < 0.001), tobacco smoking (χ(2) = 28.17, P < 0.001), body mass indexes (t = 11.39, P < 0.001), total cholesterol (t = 8.25, P < 0.001), low-density lipoprotein cholesterol (t = 7.24, P < 0.001), high-density lipoprotein cholesterol (t = 3.52, P < 0.001), and triglyceride (t = 6.09, P < 0.001). By unconditional logistic regression analysis, we observed that the CC genotype at IL-6 -174G/C was had a 2.32 (95%CI = 1.33-4.06) fold risk of developing CAD compared to the GG genotype. Moreover, IL-6 -174G/C polymorphism was positively associated with the risk of developing CAD in both dominant (OR = 1.63, 95%CI = 1.12-2.38; P = 0.01) and recessive models (OR = 2.18, 95%CI = 1.26-3.77; P = 0.001). However, no statistically significant association was observed between IL-6 -572C/G polymorphism and risk of CAD. In conclusion, IL-6 -174G/C polymorphisms are associated with the pathogenesis of CAD.

Objective: To investigate and analyze the perinatal outcomes of low birth weight (LBW) infants, thereby selecting the appropriate mode and suitable time of delivery to improve the adverse pregnancy outcomes., Study Design: A retrospective analysis of 112,441 deliveries (from 39 hospitals of different levels in 14 provinces and autonomous regions in China throughout 2011) were performed in this study to further evaluate the modes of delivery and pregnancy outcomes of LBW infants., Results: The rate of cesarean section, stillbirth, neonatal asphyxia and mortality of LBW were significantly higher than those of normal birth weight (NBW) infants (odds ratio, 1.24, 56.56, 57.27 and 10.40 times higher, respectively). Stratified analysis showed that adverse events were reduced with the increase in gestational weeks, especially at 34 to 36(+6) weeks. However, LBW infants still had higher risks of adverse events as compared with NBW infants. In particular, full-term LBW babies had a 23.81- and 26.06-fold higher risk of stillbirth and neonatal death as compared with term babies with NBW. In addition, the cesarean delivery rate was 1.24-fold higher for LBW babies than for NBW babies. With an increase in gestational age in LBW infants, the rate of cesarean section was also increased. The rates of stillbirth and neonatal mortality of full-term LBW infants who were delivered via cesarean section (0.5% and 1.0%, respectively) were significantly lower than in the vaginal-delivery group (5.2% and 6.9%, respectively)., Conclusion: LBW is one of the causes of perinatal death and other adverse pregnancy outcomes and increases the rate of cesarean section. Individualized analysis according to gestational age and intrauterine fetal condition should be performed to extend the gestational age to at least 34 weeks before delivery, cesarean section is a relatively safe mode of delivery, but cannot completely eliminate complications. The key to improving mother and child outcomes is to strengthen pregnancy care and reduce low birth weight infants and premature birth. LBW is one of the causes of adverse pregnancy outcomes in both premature and full-term infants and increases the rate of cesarean section. Individualized analysis of the mode of delivery should be performed to extend the gestational age to 34 weeks and so improve the survival rate.

Introduction: Many studies have shown that differences were observed between male and female lupus patients. Although systemic lupus erythematosus (SLE) affects mostly females (female:male ratio 9:1), male SLE patients show higher mortality due to kidney and neurological disease. Currently there are limited epidemiological data concerning lupus in the Chinese population. As such, the Chinese SLE Treatment and Research group (CSTAR) developed the first online registry of Chinese lupus patients in 2009, and represents a multicenter observational study that attempts to describe and compile the major clinical characteristics of lupus in Chinese patients., Objective: To investigate the effect of gender on the phenotypes of Chinese SLE patients., Patients and Methods: Data for 2104 SLE patients were prospectively collected and included in the CSTAR registry. Patients fulfilled the 1997 American College of Rheumatology (ACR) SLE classification criteria. We conducted a cross-sectional case-control study to analyze patient clinical and laboratory data at onset and at enrollment. SLE disease activity scores (SLEDAI) were also measured at enrollment., Results: This study included 1914 women and 190 men. Males and females showed no differences in mean ages at onset, delay of diagnosis and disease duration. Males presented more frequently with fever (p = 0.003), while musculoskeletal involvement (p = 0.001) and cytopenia (p = 0.017) was more common in females as the initial manifestation at onset of SLE. For manifestations at enrollment, males presented more frequently with fever (p = 0.005), renal disease (p = 0.019), vasculitis (p = 0.032) and neuropsychiatric lupus (p = 0.007). For cumulative manifestations at enrollment, males presented more frequently with discoid rash (p < 0.001) and neuropsychiatric lupus (p = 0.036), while less frequently with arthritis (p = 0.011). However, the laboratory data showed no significant differences between the two groups at enrollment. Males also had higher SLEDAI scores at enrollment (p = 0.002)., Conclusions: Renal disease, vasculitis and neuropsychiatric lupus are more common in male SLE patients with higher SLEDAI scores compared to female SLE patients in China., (© The Author(s) 2015.)

Objectives: Takayasu arteritis (TA) is a chronic granulomatous large-vessel vasculitis. When diagnosing TA, the criteria designed by the American College of Rheumatology (ACR) are used commonly but they were just classification criteria. There is an urgent need for a new set of diagnostic criteria., Methods: One hundred and thirty-one TA patients and 132 control patients with other types of vascular disease were enrolled and both groups were distributed into a "training set" and a "validation set". All general information as well as clinical, laboratory and imaging data were collected. After comparing all the medical records of two groups in the training set, logistic regression and clinical judgment were used to form the new criteria for TA. The new criteria were tested by the validation set., Results: New TA diagnostic criteria within total score 26 include age (<40 years), female, chest pain/chest distress, amaurosis, vascular bruits, a decreased/absent pulse, involvement of the aortic arch or its major branches, and involvement of the abdominal aorta or its branches. Patients with a score ≥ 8 were diagnosed as TA. The sensitivity and specificity of our new criteria were 91.92% and 93.94%, respectively, higher than those of the ACR criteria (75.76%, 85.86%) and the Ishikawa criteria (56.57%, 94.95%). The areas under the ROC curves of the new criteria and ACR criteria were 0.981 and 0.868, respectively (p<0.001). Sensitivity and specificity tested in the validation set were 90.63% and 96.97%, respectively., Conclusions: The new diagnostic criteria exhibited high sensitivity and specificity and have demonstrated to be feasible in the diagnosis of TA.

We analyzed the distribution of Candida albicans in the oral cavity of 3-5-year-old children of Uygur and Han nationalities as well as their genotypes in caries-active groups in the Urumqi municipality. CHROMagar Candida was separately cultivated, and we identified 359 Uygur and Han children aged 3-5 years. We randomly selected 20 Han children and 20 Uygur children for this study. We chose a bacterial strain for polymerase chain reaction (PCR) 25S rDNA genotyping and random amplified polymorphic DNA (RAPD) genotyping. The rate of caries-active in Han children was higher than that in Uygur children, with values of 39.6 and 24.3%, respectively. The detection rate of C. albicans was closely correlated to the caries filling index classification (X(2) = 31.037, P = 0.000, r = 0.421; X(2) = 80.454, P = 0.000, r = 0.497). PCR of 25S rDNA from 40 strains of Han and Uygur children revealed 3 genotypes, while RAPD analysis revealed 5 genotypes. The distribution of 25S rDNA genotyping of Han children from PCR differed from that of Uygur children (X(2) = 7.697, P = 0.021), both of which were mainly the A type. RAPD genotyping of both Han and Uygur children showed similar results (X(2) = 1.573, P = 0.814). There were differences in the distributions of C. albicans in children of different nationalities. C. albicans is a key factor causing caries. The PCR 25S rDNA genotyping method is simple and sensitive, while the RAPD genotyping method is reliable and comprehensive.

Purpose: X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. This study aimed to identify the underlying genetic defect in a Chinese family with XLRS., Methods: The proband underwent complete ophthalmic examinations, including fundus examination, fundus autofluorescence, and optical coherence tomography. DNA extracted from proband and his younger brother was screened for mutations in RS1 gene. The detected RS1 mutation was tested in all available family members and 200 healthy controls., Results: Reduced visual acuity, spoke-wheel pattern at the fovea, and split retina were observed in the proband. A novel frameshift mutation c.206-207delTG in the RS1 gene, leading to a truncated protein (p.L69fs16X), was identified in the proband and his younger brother. This mutation was not found in any unaffected member or in the healthy controls. The mother of the proband was hemizygous for this mutant allele., Conclusions: We identified a novel causative mutation of RS1 in a Chinese family with XLRS. This finding expands the mutation spectrum of RS1 and provides evidence for a phenotype-genotype study in XLRS.

Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10(-8)), non-synonymous rs6537835 (P=3.26 × 10(-8)) and rs1877455 (P=8.70 × 10(-8)), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.

Context: Recent genome-wide association studies have identified several single-nucleotide polymorphisms (SNPs) that are associated with body mass index (BMI)/obesity., Objective: As obesity is an independent risk factor for hypertension, the objective of the study was to investigate the associations of obesity susceptibility loci with blood pressure (BP)/hypertension in a population of Chinese children., Design, Setting and Participants: This was a genotype-phenotype association study. Participants included 3077 Chinese children, aged 6-18 years. Based on the Chinese age- and sex-specific BP standards, 619 hypertensive cases and 2458 controls with normal BP were identified., Main Outcome Measures: BP was measured by auscultation using a standard clinical sphygmomanometer., Results: Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP (SBP; P=0.034) and three SNPs were significantly associated with diastolic BP (DBP; GNPDA2 rs10938397: P=0.026; FAIM2 rs7138803: P=0.015; NPC1 rs1805081: P=0.031) after adjustment for age, sex and hypertension status. In addition, three SNPs were significantly associated with hypertension risk after adjustment for age and sex (FTO rs9939609: odds ratio (OR)=1.35, 95% confidence interval (CI) 1.12-1.62, P=0.001; MC4R rs17782313: OR=1.22, 95% CI 1.06-1.42, P=0.007; GNPDA2 rs10938397: OR=1.17, 95% CI 1.02-1.34, P=0.021). After additional adjustment for BMI, none remained significant. The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC4R rs17782313, GNPDA2 rs10938397), showed a positive association with SBP (P=5.17 × 10(-4)) and risk of hypertension (OR=1.22, 95% CI 1.12-1.33, P=6.07 × 10(-6)). Further adjustment for BMI abolished the positive associations (SBP: P=0.220; DBP: P=0.305; hypertension: P=0.052). Only FTO rs9939609 and GRS were statistically associated with hypertension risk in the age- and sex-adjusted model after correction for multiple testing., Conclusions: The present study demonstrated that FTO rs9939609 and combined SNPs were significantly associated with risk of hypertension, which seems to be dependent on BMI.

CYP17A1 gene encodes the cytochrome P450 enzyme CYP17A1, a key enzyme involved in steroid metabolism. A single nucleotide polymorphism (SNP) near CYP17A1, rs11191548, showed significant association with hypertension in European adults. However, this association has not been demonstrated in children thus far. Additionally, the role of CYP17A1 in elevating blood pressure (BP) is unclear. We investigated the association of rs11191548 with hypertension in Chinese children. A total of 3422 children participated in the study, including 1009 children with elevated BP (EBP, including prehypertension and hypertension) and 2413 children with normal BP. SNP rs11191548 was associated with systolic BP (SBP) (CC vs TT: P=4.8 × 10(-4); additive model: P=0.002; dominant model: P=0.011; recessive model: P=0.001) and EBP (CC vs TT: odds ratio (OR)=0.43, 95% confidence interval (CI) 0.26-0.72, P=0.001; additive model: OR=0.74, 95% CI 0.61-0.90, P=0.002; dominant model: OR=0.76, 95% CI 0.60-0.96, P=0.022; recessive model: recessive model: OR=0.46, 95% CI 0.28-0.77, P=0.003) in girls, but there was no statistically significant association between the SNP and diastolic BP in boys or girls. Our results also showed that rs11191548 was more significantly associated with SBP and EBP in obese girls than in girls of normal weight. Our study indicated that the SNP rs11191548, near CYP17A1, was associated with EBP in children. Moreover, we found a sex-specific effect of rs11191548 on SBP in Chinese children. Further studies are necessary to clarify the association between this CYP17A1 polymorphism and BP.

Objective: Balancing immunosuppression to prevent rejection while minimizing infection/drug toxicity risk is a challenge in organ transplantation. Drug monitoring alone or with functional monitoring is inadequate to measure the immune response after transplantation. The Food and Drug Administration (FDA)-approved immune monitoring assay, ImmuKnow, offers an noninvasive method to assess the immune status of transplanted patients by measuring adenosine triphosphate (ATP) released from CD4 T cells. Herein, we have evaluated ATP levels reflecting the immune responses of Chinese kidney transplant recipients as a monitoring parameter to guide treatment after transplantation., Methods: From October 2008 to March 2010, we recruited 259 kidney transplant patients who were divided into four groups: stable (n = 174), postoperative infection (n = 32), postoperative rejection (n = 16), and high-dose corticosteroid treatment (n = 33). The ImmuKnow assay was performed to measure CD4 T-cell ATP levels. No prisoners or organs from prisoners were used in the study., Results: Receiver operating characteristics measurements indicated an ATP predictive range of 238 to 497 ng/mL to monitor immune responses after transplantation and immunosuppressive therapy. To identify patients with infection, we used a cutoff ATP value of 238 ng/mL with 100% specificity and positive predictive value and 92.9% sensitivity. To identify patients with rejection, we used a value of 497 ng/mL with 91.5% sensitivity. Compared with the 225 to 525 ng/mL ATP levels recommended by the FDA, our target values showed similar or better diagnostic accuracy., Conclusion: We provide additional data to monitor immunosupressant treatment of Chinese kidney transplant patients., (Copyright © 2011. Published by Elsevier Inc.)

A population-based retrospective study was conducted in Harbin,China. The medical records of 13 711 singleton infants born between 2001 and 2005 in 16 hospitals were reviewed. The incidence of macrosomia (birthweight ≥4000 g) was found to have increased from 8.31% in 2001 to 10.50% in 2005. Over this period, the ponderal index decreased and birth length increased in infants with macrosomia. In a multivariate analysis, risk factors for delivery of a newborn with macrosomia were found to be high prepartal body mass index (BMI), maternal height ≥165 cm, male gender of the newborn, gestational age of 40-41.9 weeks, maternal age ≥30 years and a maternal diagnosis of hypertension. The increase in the incidence of macrosomia in Harbin was attributable to increases in maternal prepartal BMI, height and age in the population., (© 2010 The Authors Journal compilation © RCOG 2010 BJOG An International Journal of Obstetrics and Gynaecology.)

China is a multicultural country that has arisen from its 56 ethnicities, with a diverse population of over 1.3 billion people and an imbalanced economic development. The health care system in China is tending to be overall funded through urban and rural health insurance plans. Although China has invested in the basic research of genome science, public health genomics-related programs and services in China started late. Prenatal screening is offered as part of routine clinical prenatal services and is free of charge in some economically advanced cities. Newborn screening programs are mandated throughout the country but vary between provinces and territories in terms of organization and diseases screened for; most screening tests are paid by out-of-pocket expenses. Genetic tests are encouraged while there are only one accredited state laboratory and few territorial laboratories in China. Further national genomics policies are needed in China in a range of genetic issues and infrastructure of public health genomics. Careful measurement is essential to understanding the nature and scale of the task ahead.

A total of 1642 odontogenic tumour cases retrieved from the files of the College of Stomatology, Sichuan University, China were retrospectively analyzed for gender, age, tumour site and relative frequency of various types, and the data compared with that of previous reports. The final diagnosis in each case was based on the WHO 2005 histopathological classification of odontogenic tumours. Of these tumours 1592 (97.0%) were benign and 50 (3.0%) were malignant. Ameloblastoma (40.3%) was the most frequent type, followed by keratocystic odontogenic tumour (35.8%), odontoma (4.7%) and odontogenic myxoma (4.6%). The mean age of the patients was 32.1, with a wide range (3-84 years). The male-female ratio and maxilla-mandible ratio were 1.4:1 and 1:4.0, respectively. Ameloblastoma and keratocystic odontogenic tumours, important indications of extensive surgical procedures, are not considered rare in this Chinese population, whereas odontoma is uncommon.

This study aimed to explore the relationships between job satisfaction and organizational commitment, role conflict and ambiguity, and demographic variables associated with retention of nurses within the Chinese healthcare workforce. A hypothetical model derived from a review of research studies investigating relationships between these variables was tested in a cross-sectional questionnaire survey of all the final year nursing students in a medical university in China. Seventy-one out of the total sample of 75 final year nursing students completed the questionnaire, producing a response rate of 95%. Descriptive and inferential statistical analysis of the data revealed a positive relationship between job satisfaction and organizational commitment, and a negative relationship between job satisfaction and role conflict and ambiguity. These results largely support the hypothesised associations between variables found in research studies derived mainly from samples of Western qualified nurses. However, contrary to previous studies, the findings suggest that aspirations to work in a clinical post are associated with high job satisfaction, and degree level student nurses have relatively high job satisfaction. The main implications for nursing education and practice are that educators and clinical mentors should work collaboratively to reduce the gap between theory and practice, specifically to improve the quality of student nurses' clinical experience in China and elsewhere. Positive clinical placement experience is related to high job satisfaction, and so, potentially, to improved retention. Future studies are needed which investigate changes in job satisfaction and other related variables over time, which have student nurse samples that are sufficient to enable the predictive value of these variables on retention in the healthcare workforce to be investigated.

Objective: To detect the location and geographical features of gene mutation of the cancer based on 30,709 clinical tumor biopsies., Methods: Thirty thousand seven hundred and nine cases of tumor biopsy materials were collected from the Department of Pathology of Nantong Cancer Hospital between June 1974 and December 1987. The address of the village and county of patients was collected and statistical analysis was performed on data from lab examination. DNA sequencing of 31 cases of hepatocellular carcinoma (HCC) was performed at the Department of Pathology of the Medical College of Tokyo University, Japan., Results: The data suggested that different carcinomas occurred predominantly in some districts and the frequency and type of mutation of the P53 gene in the HCC were different in different districts., Conclusion: It seems that based on the clinical biopsy materials, carcinomas of the uterus cervix (CC) and nasopharynx tend to occur in some districts of Nantong City and the frequency and type of mutation of the gene P53 of the HCC were different in different districts. The reason for this is not understood and further study will be done.

The theory was first mentioned in Mu Jing Da Cheng written by Huang Tingjing. Extensive study was first made by Tang Youzhi in 1958, a modern ophthalmologist. In the article, analysis on some clinical materials explained that the incision yielded great influences on modern inner eye operation. It is universally recognized, both domestically and abroad (by the American Machemer in 1972) that it is a safe and reliable incision.

Effects of upright tilt on mechanism of autonomic nervous regulation of cardiovascular system and characteristics of heart rate variability (HRV) were observed in sixty healthy male pilots. Relation between time domain and frequency domain indexes of short-time HRV (5 min) were analysed before and after upright tilt. The results showed that there are significant difference in short time HRV parameters before and after upright tilt. Significant relationship was formed between time domain and frequency domain indexes of HRV. It suggests that time domain and frequency domain HRV analysis is capable of revealing certain informations embedded in a short series of R-R intervals and can help to evaluate the status of autonomic regulation of cardiovascular function in pilots.

In order to understand the distribution and pathogenicity of vibrio in the coastal areas of China a study consisted of 51 water samples and foodstuff from 10 different areas in 5 provinces was conducted microbiologically and etiologically. Results showed that 45 pathogenic vibrio were identified, with majority of A. caviae (26.7%), V. alginolyticus (22.2%) and V. parahaemolyticus (11.1%), same kinds of vibrio found in feces from patients with acute infectious diarrhea. Prevalence rates of pathogenic vibrio identified from the East China Sea, the South China Sea and the Yellow Sea were between 66%-77%. The detection rate of pathogenic vibrio in 29 water samples was 93.1% (27/29) with 38 strains isolated mainly in river water (57.8%), followed by in sea water (21.1%) and pool water (21.1%). The results revealed that the distribution of pathogenic vibrio in different waters was closely related to its pathogenecity, providing evidence that vibrio diarrhea be supervised, diagnosed and treated in order to decrease the incidence of the disease.

Normal range of 24 h heart rate variability (HRV) and its application in healthy pilots of different age and sex were investigated. 24 h HRV data in 118 healthy male and female pilots and ground crew were measured. Comparing with male pilots, SDNN, HRVi, RMSSD, HF and ATP values in females are obviously higher (P < 0.05). For HRV comparison analysis, the pilots were divided into three age groups. The results show that SDNN value of male pilots in group A is obviously higher than those in group B and C (P < 0.01). In female pilot group, the RMSSD, HF and ATP values of group C, are obviously higher than those of A and B (P < 0.01). It demonstrates that many HRV parameters show significant difference between male and female pilots, the HRV parameters in female pilot are obviously higher than those in males, especially for such parameters which reflect vagal nerve activity. Age factor effect is apparent in pilot's HRV data. Some HRV parameters in different age groups show significant difference. Most 24 h HRV parameters in pilots flying different types of aircraft show no significant difference.

By analysing the nucleotide sequence of the SH genes of five mumps virus strains derived from the clinical specimens collected during the 1995/96 mumps epidemic in China a new genotype has been established. The circulating viruses showed divergence ranging from 0.8-4.5% at the nucleotide level and 3.5-12.3% at the amino acid level. In addition, a more rational approach has been taken in proposing genotype groupings to MuV strains.

A direct reverse transcription coupled with polymerase chain reaction (RT-PCR) was used to detect HAV-seeded sea water, coastal sediment and Arca subcrenata, HAV strain treated by different kind of disinfection, and naturally occurring HAV in Arca subcrenata. The results showed that HAV could be detected in HAV-seeded sea water, coastal sediment and Arca subcrenata. HAV could also be detected in HAV strain disinfected by phenol, suggesting that inactive HAV could also show positive PCR. Only Arca subcrenata collected from Shanghai in 1988 showed positive result by RCR, but negative by immunofluorescence at the same time. This result demonstrated that HAV was not infectious owing to long time storage. The author's method has the advantage of involving fewer manipulations.

Sixteen restriction endonucleases were used to assay the mtDNA polymorphism in the Han, Miao, Buyi and Shui ethnic groups from Guizhou province. Thirty-one restriction patterns were observed in a total of 150 subjects studied, out of which HacII-13, EcoRV-3 and PstI-4 are first reported by this paper. From all restriction patterns disclosed by 16 enzymes, twenty-eight mtDNA types were obtained. UPG method and parsimony networks were employed to analyze the clustering relationships between types or populations. Following conclusions are obtained: the mt-DNA from the Shui nationality possesses the highest polymorphism; the Han and the Miao are most closely related; and the genetic relation between the Buyi and the Shui is somewhat distant.

The frequency and form of the middle trigonid crest (MTC) in lower permanent molars is reported for 1,131 dental casts of Bushman (San), Bantu, Solomons, Hawaiians, Pima, Eskimo, Navajo, Chinese, and American whites. The MTC occurs most often on the first molar. We found very little intra-trait variation, so observations were scored on a present-absent basis. The MTC is most frequent in the African samples and rare in those of the other populations. Two reference plaques can be obtained to add to the existing series in the ASU dental anthropology system.

Applying Southern blot hybridization, the structures of the red pigment gene (RPG) and the green pigment gene (GPG) were analyzed in 43 Chinese patients with red-green color vision defects, including 3 female cases of deuteranopia. The same analysis was carried out in 4 normal relatives and 3 carriers from 3 affected families, as well as in 11 normal controls. Among the 43 patients, abnormalities of the RPG were detected in all 19 protans, and abnormalities of the GPG were found in 14 of the 24 deutans. In about 80% of the protans and deutans, an alteration of exon 5 in RPG or GPG was discovered. All 19 protans had anomalous RPG and in one protan the normal RPG was replaced by a 5' red-3' green hybrid gene. However, no protans showed deletion of the whole RPG. Some deutans had no GPG; some had a 5' green-3' red hybrid gene with or without the GPG. The exon 5 of RPG and GPG was amplified by polymerase chain reaction (PCR) and the amplified fragments were further analyzed by RsaI digestion. The results of PCR were identical to those of nucleic acid hybridization. PCR will be a useful tool in prenatal diagnosis and genetic counseling.

One hundred and three color vision defective subjects were screened from 3456 middle school students with pseudoisochromatic plate test. One hundred subjects out of them were further examined with a test battery including Panel D-15 and FM 100-hue test and Neitz anomaloscope test. It was found that there were 21 protanopes (P), 3 extremely protanomalous (EPA), 13 protanomalous (PA), 25 deutenopes (D), 5 extremely deuteranomalous (EDA), 28 deuteranomalous (DA), 6 unclassified subjects in our investigation. The proportion of various types of congenital color vision defects was P:EPA:PA:D:EDA:DA = 1.00:0.14:0.62:1.19:0.24:1.33.