Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and t...Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first-tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation.展开更多
AIM To investigate the effect of disease activity or thiopurine use on low birth weight and small for gestational age in women with inflammatory bowel disease(IBD).METHODS Selection criteria included all relevant arti...AIM To investigate the effect of disease activity or thiopurine use on low birth weight and small for gestational age in women with inflammatory bowel disease(IBD).METHODS Selection criteria included all relevant articles on the effect of disease activity or thiopurine use on the risk of low birth weight(LBW) or small for gestational age(SGA) among pregnant women with IBD. Sixtynine abstracts were identified,35 papers were full text reviewed and,only 14 of them met inclusion criteria. Raw data were extracted to generate the relative risk of LBW or SGA. Quality was assessed using the Newcastle Ottawa Scale.RESULTS This meta-analysis is reported according to PRISMA guidelines. Fourteen studies met inclusion criteria,and nine reported raw data suitable for meta-analysis. We found an increased risk ratio of both SGA and LBW in women with active IBD,when compared with women in remission: 1.3 for SGA(4 studies,95%CI: 1.0-1.6,P = 0.04) and 2.0 for LBW(4 studies,95%CI: 1.5-2.7,P < 0.0001). Women on thiopurines during pregnancy had a higher risk of LBW(RR 1.4,95%CI: 1.1-1.9,P = 0.007) compared with non-treated women,but when adjusted for disease activity there was no significant effect on LBW(RR 1.2,95%CI: 0.6-2.2,P = 0.6). No differences were observed regarding SGA(2 studies; RR 0.9,95%CI: 0.7-1.2,P = 0.5). CONCLUSION Women with active IBD during pregnancy have a higher risk of LBW and SGA in their neonates. This should be considered in treatment decisions during pregnancy.展开更多
Background: The etiology of Crohn’s disease (CD) and Ulcerative Colitis (UC) remains unclear. It has been suggested that apart from genetic factors, prenatal or perinatal environmental factors could change the risk o...Background: The etiology of Crohn’s disease (CD) and Ulcerative Colitis (UC) remains unclear. It has been suggested that apart from genetic factors, prenatal or perinatal environmental factors could change the risk of developing inflammatory bowel disease (IBD) later in life. Seasonality in birth distribution over the year has been demonstrated for several immune diseases, but studies on IBD have had inconsistent results. Aim: The aim of this study was to investigate in the Netherlands the effect of the month of birth on the probability to develop IBD later in life. Methods: Birth data from CD patients and UC patients of 4 different Dutch hospitals were compared to a control group of irritable bowel syndrome (IBS) patients from the same hospitals. A chi-square test was used to test whether there was heterogeneity between the monthly and seasonal birth rates of the three groups. Results: The patient cohort consisted of 1183 CD patients and 1293 UC patients. The control group consisted of 2113 IBS patients. Data showed no difference in birth distribution over the year or over the four seasons of IBD patients as compared to the control group. P-values over the year and over the seasons respectively are 0.428 and 0.237 for CD and 0.311 and 0.812 for UC. Conclusions: There is no seasonality in the distribution of births of IBD patients as compared to controls. The hypothesis that environmental factors present at the time of birth play a role in the pathogenesis of IBD is not supported by these data.展开更多
The discovery that small size at birth and during infancy are associated with a higher risk of diabetes and related metabolic disease in later life has pointed to the importance of developmental factors in these condi...The discovery that small size at birth and during infancy are associated with a higher risk of diabetes and related metabolic disease in later life has pointed to the importance of developmental factors in these conditions. The birth size associations are thought to refl ect exposure to adverse environmental factors during early development but the mechanisms involved are still not fully understood. Animal and human work has pointed to the importance of changes in the setpoint of a number of key hormonal systems controlling growth and development. These include the IGF-1/GH axis, gonadal hormones and, in particular, the systems mediating the classical stress response. Several studies show that small size at birth is linked with increased activity of the hypothalamic-pituitary-adrenal axis and sympathoadrenal system in adult life. More recent human studies have shown associations between specif ic adverse experiences during pregnancy, such as famine or the consumption of adverse diets, and enhanced stress responses many decades later. The mediators of these neuroendocrine responses are biologically potent and are likely to have a direct infl uence on the risk of metabolic disease. These neuroendocrine changes may also have an evolutionary basis being part of broader process, termed phenotypic plasticity, by which adverse environmental cues experienced during development modify the structure and physiology of the adult towards a phenotype adapted for adversity. The changes are clearly advantageous if they lead to a phenotype which is well-adapted for the adult environment, but may lead to disease if there is subsequent overnutrition or other unexpected environmental conditions.展开更多
文摘Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first-tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation.
文摘AIM To investigate the effect of disease activity or thiopurine use on low birth weight and small for gestational age in women with inflammatory bowel disease(IBD).METHODS Selection criteria included all relevant articles on the effect of disease activity or thiopurine use on the risk of low birth weight(LBW) or small for gestational age(SGA) among pregnant women with IBD. Sixtynine abstracts were identified,35 papers were full text reviewed and,only 14 of them met inclusion criteria. Raw data were extracted to generate the relative risk of LBW or SGA. Quality was assessed using the Newcastle Ottawa Scale.RESULTS This meta-analysis is reported according to PRISMA guidelines. Fourteen studies met inclusion criteria,and nine reported raw data suitable for meta-analysis. We found an increased risk ratio of both SGA and LBW in women with active IBD,when compared with women in remission: 1.3 for SGA(4 studies,95%CI: 1.0-1.6,P = 0.04) and 2.0 for LBW(4 studies,95%CI: 1.5-2.7,P < 0.0001). Women on thiopurines during pregnancy had a higher risk of LBW(RR 1.4,95%CI: 1.1-1.9,P = 0.007) compared with non-treated women,but when adjusted for disease activity there was no significant effect on LBW(RR 1.2,95%CI: 0.6-2.2,P = 0.6). No differences were observed regarding SGA(2 studies; RR 0.9,95%CI: 0.7-1.2,P = 0.5). CONCLUSION Women with active IBD during pregnancy have a higher risk of LBW and SGA in their neonates. This should be considered in treatment decisions during pregnancy.
文摘Background: The etiology of Crohn’s disease (CD) and Ulcerative Colitis (UC) remains unclear. It has been suggested that apart from genetic factors, prenatal or perinatal environmental factors could change the risk of developing inflammatory bowel disease (IBD) later in life. Seasonality in birth distribution over the year has been demonstrated for several immune diseases, but studies on IBD have had inconsistent results. Aim: The aim of this study was to investigate in the Netherlands the effect of the month of birth on the probability to develop IBD later in life. Methods: Birth data from CD patients and UC patients of 4 different Dutch hospitals were compared to a control group of irritable bowel syndrome (IBS) patients from the same hospitals. A chi-square test was used to test whether there was heterogeneity between the monthly and seasonal birth rates of the three groups. Results: The patient cohort consisted of 1183 CD patients and 1293 UC patients. The control group consisted of 2113 IBS patients. Data showed no difference in birth distribution over the year or over the four seasons of IBD patients as compared to the control group. P-values over the year and over the seasons respectively are 0.428 and 0.237 for CD and 0.311 and 0.812 for UC. Conclusions: There is no seasonality in the distribution of births of IBD patients as compared to controls. The hypothesis that environmental factors present at the time of birth play a role in the pathogenesis of IBD is not supported by these data.
文摘The discovery that small size at birth and during infancy are associated with a higher risk of diabetes and related metabolic disease in later life has pointed to the importance of developmental factors in these conditions. The birth size associations are thought to refl ect exposure to adverse environmental factors during early development but the mechanisms involved are still not fully understood. Animal and human work has pointed to the importance of changes in the setpoint of a number of key hormonal systems controlling growth and development. These include the IGF-1/GH axis, gonadal hormones and, in particular, the systems mediating the classical stress response. Several studies show that small size at birth is linked with increased activity of the hypothalamic-pituitary-adrenal axis and sympathoadrenal system in adult life. More recent human studies have shown associations between specif ic adverse experiences during pregnancy, such as famine or the consumption of adverse diets, and enhanced stress responses many decades later. The mediators of these neuroendocrine responses are biologically potent and are likely to have a direct infl uence on the risk of metabolic disease. These neuroendocrine changes may also have an evolutionary basis being part of broader process, termed phenotypic plasticity, by which adverse environmental cues experienced during development modify the structure and physiology of the adult towards a phenotype adapted for adversity. The changes are clearly advantageous if they lead to a phenotype which is well-adapted for the adult environment, but may lead to disease if there is subsequent overnutrition or other unexpected environmental conditions.
