Long-term follow-up of congenital diaphragmatic hernia

Increased survival of patients with congenital diaphragmatic hernia has created a unique cohort of children, adolescent, and adult survivors with complex medical and surgical needs. Disease-specific morbidities offer the opportunity for multiple disciplines to unite together to provide long-term comprehensive follow-up, as well as an opportunity for research regarding late outcomes. These children can exhibit impaired pulmonary function, altered neurodevelopmental outcomes, nutritional insufficiency, musculoskeletal changes, and specialized surgical needs that benefit from regular monitoring and intervention, particularly in patients with increased disease severity. Below we aim to characterize the specific challenges that these survivors face as well as present an algorithm for a multidisciplinary long-term follow-up program.     

Standardized bovine colostrum derivative impedes development of type 1 diabetes in rodents

Bovine colostrum is a rich source of nutrients and immunologically active components that play a role in conveying passive immunity to the offspring, protection and maturation of new-born’s gastrointestinal tract. Colostrum has exerted positive effects in diseases affecting gastrointestinal tract, as well as type 2 diabetes (T2D). However, health-promoting effects in type 1 diabetes have not been reported. The aim of this study was to investigate therapeutic value of oral administration of standardized bovine colostrum derivative (SBCD) in three models of type 1 diabetes (T1D): spontaneously developed T1D in NOD mice and BB-DP rats, and in chemically induced T1D in C57BL/6 mice with multiple low doses of streptozotocin (MLDS). SBCD was administered per os and the disease development was evaluated by weekly measurement of blood glucose and by histological analyses of the pancreas. SBCD administration prevented diabetes development in all three models, as indicated by euglicaemia. Ex vivo analysis of cytokine expression and production in the spleen and mesenteric lymph nodes (MLN) in MLDS challenged mice revealed a strong modulation of the immune response. In the MLN cells SBCD disrupted harmful Th17 response induced by MLDS. Expression of Th1 signature cytokine IFN-γ was down-regulated in MLN cells of SBCD-treated mice, while IL-4 secretion (Th2 cytokine) was up-regulated in comparison to diabetic group. Modulation of the immune response seen in the MLN protruded to the spleen, giving overall less infiltration of immune cells to the pancreas. SBCD acted on immune cells and halted (auto) aggression towards pancreatic beta cells. Moreover, SBCD induced beta cell proliferation. Hence, this derivative could be tested in diabetes and other similar diseases with aberrant immune response.     

内蒙古呼和浩特地区185例优生遗传咨询者FISH技术检测结果分析

目的评价荧光原位杂交(fluorescence in situ hybridization,FISH)诊断染色体非整倍体的临床价值。方法 FISH技术检测185例样本,临床诊断原因包括产前筛查高风险、B超检测异常、胚胎停育、外观异常等。将羊水细胞FISH检测结果与传统细胞核型分析方法进行比较。根据FISH结果结合临床诊断意见,评价FISH的临床应用价值。结果 1)FISH羊水样本检测88例,异常20例,其中79例作羊水细胞核型分析,检测结果与FISH相符率100%。2)绒毛组织样本检测72例,异常14例,人工流产与胚胎停育有正相关性。3)外周血检测20例,异常15例,检测结果与外周血核型分析结果一致。结论 FISH技术能快速准确检测染色体非整倍体异常,是传统细胞遗传学方法的有力辅助。     

宫内生长受限胎儿出生后细胞遗传学分析

目的应用外周血染色体培养/核型分析技术对20例有胎儿生长受限(fetal growth restriction,FGR)史的新生儿进行外周血染色体培养及核型分析,寻求与遗传学相关的致病因素。方法收集2012年1月-2014年6月到本院新生儿科初步诊断为FGR的患儿20例,应用外周血常规接种、培养、制片及G带分析。结果 20例FGR胎儿出生后外周血染色体检测共检测出10例染色体异常,其中21-三体5例,18-三体1例,染色体结构异常4例。结论在FGR的致病因素中,染色体结构畸变和数目异常是导致胎儿宫内生长受限的致病因素之一,获得不论有无躯体畸形的发育迟缓的儿童的染色体信息十分必要,可为患儿预后和早期干预提供有效而准确的咨询。     

即时性图像法膳食调查技术应用于学龄前儿童膳食调查的效果评价

目的对即时性图像法应用于学龄前儿童膳食调查进行效果评价。方法招募60位幼儿园儿童及其家长,为儿童提供食物原料经严格称重后烹制的午餐。进餐前家长从三个角度对食物进行拍摄,同样方法拍摄剩余食物,并将图像文件发送至固定邮箱,次日接受针对儿童的24h膳食回顾调查,膳食估量小组成员对图片中的食物进行估重。得到称量数据、图像法数据和24h回顾法数据,归类汇总三组数据并进行营养计算。结果与24h回顾法数据相比,除水果和带鱼外,图像法数据与称重数据的相关性更好。除畜禽肉类和带鱼外,图像法的数据与称重法更接近。基于图像法数据计算的能量与各营养素的摄入量数据,与称重数据的计算结果更接近。结论与24h回顾法相比,用即时性图像法膳食调查技术对学龄前儿童进行膳食调查,可获得与实际重量更接近的食物消费量数据。     

Relation of genetic polymorphisms in microRNAs with diastolic and systolic function in type 2 diabetes mellitus

Background and aimsType 2 diabetes mellitus (T2DM) has high risk of developing cardiac dysfunction, increasing of either cardiovascular death or hospitalization for heart failure. MicroRNAs (miRNA) affect cardiac function of T2DM. The aim of this study was to investigate the relationships between five miRNA single nucleotide polymorphisms (SNP) and diastolic and systolic function of T2DM.Methods and resultsThree hundred untreated T2DM subjects were included. Each subject underwent SNP genotyping, conventional echocardiography, tissue doppler imaging, and speckle tracking imaging. The effects of miRNA SNPs on diastolic and systolic function were evaluated. The diastolic function of T2DM subjects with miR-133a-1-rs8089787 wild genotype or let-7f-rs10877887 variant genotype was lower than those with miR-133a-1-rs8089787 variant genotype or let-7f-rs10877887 wild genotype, manifesting as higher left atrial volume index, lower mean E′, and higher E/E’ (P < 0.05). There were no significant effects of miR-133a-2-rs13040413, let-7a-1-rs13293512 and miR-27a-rs895819 on the diastolic function of T2DM subjects (P > 0.05). These five miRNA SNPs had no effect on the systolic function of T2DM subjects (P > 0.05).ConclusionsMiRNA-133a-1-rs8089787 and let-7f-rs10877887 were associated with impaired cardiac diastolic function in T2DM. The findings may be a promising therapeutic targets for preventing diastolic dysfunction in T2DM.     

Links Between Maternal Cardiovascular Disease and the Health of Offspring

Maternal cardiovascular disease (CVD) during pregnancy is on the rise worldwide, as both more women with congenital heart disease are reaching childbearing age, and conditions such as diabetes, hypertension, and obesity are becoming more prevalent. However, the extent to which maternal CVD influences offspring health, as a neonate and later in childhood and adolescence, remains to be fully understood. The thrifty phenotype hypothesis, by which a fetus adapts to maternal and placental changes to survive a nutrient-starved environment, may provide an answer to the mechanism of maternal CVD and its impact on the offspring. In this narrative review, we aim to provide a review of the literature pertaining to the impact of maternal cardiovascular and hypertensive disease on the health of neonates, children, and adolescents. This review demonstrates that maternal CVD leads to higher rates of complications among neonates. Ultimately, our review supports the hypothesis that maternal CVD leads to intrauterine growth restriction (IUGR), which, through the thrifty phenotype hypothesis and vascular remodelling, can have health repercussions, including an impact on CVD risk, both in the immediate newborn period as well as later throughout the life of the offspring. Further research remains crucial in elucidating the mechanism of maternal CVD long-term effects on offspring, as further understanding could lead to preventive measures to optimise offspring health, including modifiable lifestyle changes. Potential treatments for this at-risk offspring group could mitigate risk, but further studies to provide evidence are needed.