ORCID Profile
0000-0002-6818-9722
Current Organisations
Huazhong University of Science and Technology Tongji Medical College
,
University College Cork
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Publisher: Public Library of Science (PLoS)
Date: 09-12-2011
Publisher: Wiley
Date: 05-02-2022
DOI: 10.1111/OBR.13427
Abstract: This scoping review was undertaken as the first stage of development of the Core Outcome Sets for Early Prevention of Obesity in CHildhood (COS‐EPOCH). The aim of this review is to identify the outcomes collected and reported in randomized controlled trials of early childhood obesity prevention interventions. A systematic scoping review was undertaken following published guidelines. Trial registries and Medline were searched, and records retrieved were screened by two reviewers. Included trials aimed to prevent childhood obesity in the first 5 years of life and were randomized. Data were extracted using a standardized form. Outcomes were assigned to outcome domains, and similar definitions within each domain were merged, based on key literature and expert consensus. Outcome and domain frequencies were estimated and presented in outcome matrices. Eighteen outcome domains were identified from 161 included studies: “anthropometry,” “dietary intake,” “physical activity,” “sedentary behaviour,” “emotional functioning/wellbeing,” “feeding,” “cognitive/executive functioning,” “sleep,” “other,” “study‐related,” “parenting practices,” “motor skill development,” “environmental,” “blood and lymphatic system,” “perceptions and preferences,” “quality of life,” and “economic,” “oral health.” The most frequently reported outcome domain was anthropometry (92% of studies), followed by dietary intake (77%) and physical activity (60%). 221 unique outcomes were identified, indicating a high degree of heterogeneity. Body mass index was the only outcome reported in % of studies. The considerable heterogeneity in outcomes supports the need for the development of COS‐EPOCH.
Publisher: Wiley
Date: 06-2007
DOI: 10.1002/J.2055-2335.2007.TB00031.X
Abstract: A noticeable turnover of staff through the specialty of oncology pharmacy has been observed nationally. Literature searches failed to identify research directly relating to oncology pharmacist retention. Studies in pharmacists and non‐pharmacist oncology staff have determined that, while patient care and contact, personal accomplishment and satisfaction are important, stress levels and lack of professional support were factors considered when leaving the profession. To explore why pharmacists choose to remain in or leave the specialty of oncology pharmacy and identify strategies to ensure retention of current staff and aid recruitment of new oncology pharmacists. Electronic surveys designed to obtain retrospective quantitative and qualitative data were sent to: current oncology pharmacists former oncology pharmacists and directors of pharmacy at institutions with oncology services. Participants were identified through databases of the Society of Hospital Pharmacists of Australia, Clinical Oncological Society of Australia, and International Society of Oncology Pharmacy Practice. Reasons for pharmacists remaining in oncology generally related to job satisfaction issues (closely associated with clinical involvement). Reasons for leaving included stress levels, staffing issues, lack of recognition from hospital management and remuneration. Strategies for retaining staff should include improved pay structure, opportunities for professional development and continuing education, peer support, availability of suitably trained staff to cover periods of leave, positive feedback and support from hospital management, and devising methods for reducing work‐related stress. Implementation of information gained from this study will facilitate recruitment and retention of experienced, well‐trained oncology staff.
Publisher: Proceedings of the National Academy of Sciences
Date: 24-02-2009
Abstract: Hirschsprung's disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia in variable portions of the distal intestine. RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR. To identify these additional genetic loci, we carried out a genome-wide association study using the Affymetrix 500K marker set. We successfully genotyped 293,836 SNPs in 181 Chinese subjects with sporadic HSCR and 346 ethnically matched control subjects. The SNPs most associated with HSCR were genotyped in an independent set of 190 HSCR and 510 control subjects. Aside from SNPs in RET , the strongest overall associations in plausible candidate genes were found for 2 SNPs located in intron 1 of the neuregulin1 gene ( NRG1 ) on 8p12, with rs16879552 and rs7835688 yielding odds ratios of 1.68 [CI 95% :(1.40, 2.00), P = 1.80 × 10 −8 ] and 1.98 [CI 95% :(1.59, 2.47), P = 1.12 × 10 −9 ], respectively, for the heterozygous risk genotypes under an additive model. There was also a significant interaction between RET and NRG1 ( P = 0.0095), increasing the odds ratio 2.3-fold to 19.53 for the RET rs2435357 risk genotype (TT) in the presence of the NRG1 rs7835688 heterozygote, indicating that NRG1 is a modifier of HSRC penetrance. Our highly significant association findings are backed-up by the important role of NRG1 as regulator of the development of the enteric ganglia precursors. The identification of NRG1 as an additional HSCR susceptibility locus not only opens unique fields of investigation into the mechanisms underlying the HSCR pathology, but also the mechanisms by which a discrete number of loci interact with each other to cause disease.
Publisher: Elsevier BV
Date: 12-2013
DOI: 10.1016/J.JHEP.2013.07.021
Abstract: Biliary atresia (BA) is a rare and most severe cholestatic disease in neonates, but the pathogenic mechanisms are unknown. Through a previous genome wide association study (GWAS) on Han Chinese, we discovered association of the 10q24.2 region encompassing ADD3 and XPNPEP1 genes, which was replicated in Chinese and Thai populations. This study aims to fully characterize the genetic architecture at 10q24.2 and to reveal the link between the genetic variants and BA. We genotyped 107 single nucleotide polymorphisms (SNPs) in 10q24.2 in 339 Han Chinese patients and 401 matched controls using Sequenom. Exhaustive follow-up studies of the association signals were performed. The combined BA-association p-value of the GWAS SNP (rs17095355) achieved 6.06×10(-10). Further, we revealed the common risk haplotype encompassing 5 tagging-SNPs, capturing the risk-predisposing alleles in 10q24.2 [p=5.32×10(-11) odds ratio, OR: 2.38 confidence interval, CI: (2.14-2.62)]. Through Sanger sequencing, no deleterious rare variants (RVs) residing in the risk haplotype were found, dismissing the theory of "synthetic" association. Moreover, in bioinformatics and in vivo genotype-expression investigations, the BA-associated potentially regulatory SNPs correlated with ADD3 gene expression (n=36 p=0.0030). Remarkably, the risk haplotype frequency coincides with BA incidences in the population, and, positive selection (favoring the derived alleles that arose from mutations) was evident at the ADD3 locus, suggesting a possible role for the BA-associated common variants in shaping the general population ersity. Common genetic variants in 10q24.2 can alter BA risk by regulating ADD3 expression levels in the liver, and may exert an effect on disease epidemiology and on the general population.
Publisher: Public Library of Science (PLoS)
Date: 02-06-2010
Publisher: Elsevier BV
Date: 12-2018
DOI: 10.1053/J.GASTRO.2018.09.012
Abstract: Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic-that is, caused by multiple genetic factors. We performed whole-genome sequence analyses of patients with Hirschsprung disease to identify genetic factors that contribute to disease development and analyzed the functional effects of these variants. We performed whole-genome sequence analyses of 443 patients with short-segment disease, recruited from hospitals in China and Vietnam, and 493 ethnically matched in iduals without Hirschsprung disease (controls). We performed genome-wide association analyses and gene-based rare-variant burden tests to identify rare and common disease-associated variants and study their interactions. We obtained induced pluripotent stem cell (iPSC) lines from 4 patients with Hirschsprung disease and 2 control in iduals, and we used these to generate enteric neural crest cells for transcriptomic analyses. We assessed the neuronal lineage differentiation capability of iPSC-derived enteric neural crest cells using an in vitro differentiation assay. We identified 4 susceptibility loci, including 1 in the phospholipase D1 gene (PLD1) (P = 7.4 × 10 In whole-genome sequence analyses of patients with Hirschsprung disease, we identified rare and common variants associated with disease risk. Using iPSC cells, we discovered some functional effects of these variants.
Publisher: Public Library of Science (PLoS)
Date: 10-05-2012
Publisher: Springer Science and Business Media LLC
Date: 25-06-2011
DOI: 10.1007/S00439-011-1035-4
Abstract: Hirschsprung disease (HSCR, congenital colon aganglionosis) is a relatively common complex genetic condition caused by abnormal development of the enteric nervous system (ENS). Through a recent genome-wide association study conducted on Chinese HSCR patients, we identified a new HSCR contributing locus, neuregulin 1 (NRG1 8p12), a gene known to be involved in the development of the ENS. As genes in which disease-associated common variants are found are to be considered as candidates for the search of deleterious rare variants (RVs) in the coding sequences, we sequenced the NRG1 exons of 358 sporadic HSCR patients and 333 controls. We identified a total of 13 different heterozygous RVs including 8 non-synonymous (A28G, E134K, V266L, H347Y, P356L, V486M, A511T, P608A) and 3 synonymous amino acid substitutions (P24P, T169T, L483L), a frameshift (E239fsX10), and a c.503-4insT insertion. Functional analysis of the most conserved non-synonymous substitutions, H347Y and P356L, showed uneven intracellular distribution and aberrant expression of the mutant proteins. Except for T169T and V486M, all variants were exclusive to HSCR patients. Overall, there was a statistically significant over-representation of NRG1 RVs in HSCR patients (p = 0.008). We show here that not only common, but also rare variants of the NRG1 gene contribute to HSCR. This strengthens the role of NRG1.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 02-2011
Publisher: Public Library of Science (PLoS)
Date: 20-01-2011
Publisher: Springer Science and Business Media LLC
Date: 02-04-2010
Publisher: Oxford University Press (OUP)
Date: 11-05-2010
DOI: 10.1093/HMG/DDQ196
Publisher: Oxford University Press (OUP)
Date: 29-10-2012
DOI: 10.1093/HMG/DDS451
Abstract: Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution to ARMs, we investigated single-nucleotide polymorphisms and copy number variations (CNVs) at genome-wide scale. A total of 363 Han Chinese sporadic ARM patients and 4006 Han Chinese controls were included. Overall, we detected a 1.3-fold significant excess of rare CNVs in patients. Stratification of patients by presence/absence of other congenital anomalies showed that while syndromic ARM patients carried significantly longer rare duplications than controls (P = 0.049), non-syndromic patients were enriched with both rare deletions and duplications when compared with controls (P = 0.00031). Twelve chromosomal aberrations and 114 rare CNVs were observed in patients but not in 868 controls nor 11 943 healthy in iduals from the Database of Genomic Variants. Importantly, these aberrations were observed in isolated ARM patients. Gene-based analysis revealed 79 genes interfered by CNVs in patients only. In particular, we identified a de novo DKK4 duplication. DKK4 is a member of the WNT signaling pathway which is involved in the development of the anorectal region. In mice, Wnt disruption results in ARMs. Our data suggest a role for rare CNVs not only in syndromic but also in isolated ARM patients and provide a list of plausible candidate genes for the disorder.
Publisher: Elsevier BV
Date: 05-2021
DOI: 10.1093/AJCN/NQAA384
Publisher: Elsevier BV
Date: 04-2007
DOI: 10.1016/J.JPEDSURG.2006.12.014
Abstract: Slow transit constipation (STC) affects up to 3% of all children and is an increasingly recognized cause of chronic constipation in children. We conducted a pilot study to investigate whether genes encoding neurotransmitters (TAC1, TAC3, VIP, NOS1) and receptors (TACR1, TACR2, TACR3, KIT) could be responsible for STC. One hundred seventeen tag single nucleotide polymorphisms (SNPs), distributed among the candidate genes, were selected from HapMap data and genotyped using Sequenom (San Diego, CA) technology in 35 affected families. Evaluation of association was performed by transmission disequilibrium test and multilocus analysis. Five SNPs (rs3771863, rs4580655, rs11722288, rs4563545, and rs3782221) in the TACR1, TACR3, KIT, and NOS1 genes were found to be potentially associated with STC, although the significance of these results does not withstand correction for multiple testing. Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.
Publisher: Springer Science and Business Media LLC
Date: 20-02-2008
DOI: 10.1038/EJHG.2008.18
Abstract: Hirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene, although reduced penetrance of RET mutations and variable expression of HSCR phenotype indicates that more than one gene is required. An unidentified RET-dependent modifier on 3p21 appears to be necessary for transmission of the short HSCR (S-HSCR) phenotype. We investigated 6 Mb of the 3p21 region on a quest for the HSCR-susceptibility locus. Fifty-eight S-HSCR case-parent trios were genotyped using Sequenom technology for 214 tag single nucleotide polymorphisms (SNPs) distributed along 6 Mb of the 3p21 region. A five-marker haplotype, spanning a 118 kb gene-rich region, was found to be overtransmitted to affected offspring. The associated haplotype encompasses three genes involved in neurological phenotypes. Importantly, this association was replicated in an independent s le of 172 S-HSCR cases and 153 unrelated controls. Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus.
Publisher: Springer Science and Business Media LLC
Date: 30-06-2013
DOI: 10.1038/NG.2687
Abstract: To identify new genetic risk factors for cervical cancer, we conducted a genome-wide association study in the Han Chinese population. The initial discovery set included 1,364 in iduals with cervical cancer (cases) and 3,028 female controls, and we selected a 'stringently matched s les' subset (829 cases and 990 controls) from the discovery set on the basis of principal component analysis the follow-up stages included two independent s le sets (1,824 cases and 3,808 controls for follow-up 1 and 2,343 cases and 3,388 controls for follow-up 2). We identified strong evidence of associations between cervical cancer and two new loci: 4q12 (rs13117307, Pcombined, stringently matched=9.69×10(-9), per-allele odds ratio (OR)stringently matched=1.26) and 17q12 (rs8067378, Pcombined, stringently matched=2.00×10(-8), per-allele ORstringently matched=1.18). We additionally replicated an association between HLA-DPB1 and HLA-DPB2 (HLA-DPB1/2) at 6p21.32 and cervical cancer (rs4282438, Pcombined, stringently matched=4.52×10(-27), per-allele ORstringently matched=0.75). Our findings provide new insights into the genetic etiology of cervical cancer.
Location: China
Location: China
No related grants have been discovered for xiaoping miao.