MDM2基因启动子区rs2279744位点单核苷酸多态性与乳腺癌发病关系的Meta分析

目的:探讨鼠双微体基因(MDM2)启动子区rs2279744位点单核苷酸多态性与乳腺癌发病风险的关系。方法:检索多个国内外文献数据库,收集MDM2启动子区rs2279744位点基因多态性与乳腺癌的风险关系的病例对照研究,筛选出符合标准的文献,提取数据后行Meta分析,并对结果进行敏感性分析与发表偏倚评价。结果:共纳入28篇文献,共计乳腺癌病例组11 804例,对照组15 209例。Meta分析结果显示,总人群中突变型与野生型(TG/GG vs.TT)与等位基因(G vs.T)均有明显差异(OR=1.15,95%CI=1.06~1.24,P0.001;OR=1.12,95%=1.05~1.18,P0.001);按洲别分亚组分析显示,两者仅在亚洲人群中有明显差异(TG/GG vs.TT:随机效应模型OR=1.34,95%CI=1.15~1.57,P0.001,固定效应模型OR=1.34,95%CI=1.20~1.50,P0.001;G vs.T:随机效应模型OR=1.21,95%CI=1.09~1.35,P=0.001)。敏感性分析与Egger检验显示结论可靠,无明显偏倚。结论:亚洲人群MDM-2基因rs2279744位点的突变纯合子/杂合子(GG/TG)型相对于野生型(TT)的个体乳腺癌发病风险增加,MDM-2基因rs2279744位点的突变与亚洲人群乳腺癌密切相关。     

Longitudinal follow-up of exocrine pancreatic function in pancreatic sufficient cystic fibrosis patients using the fecal elastase-1 test

BACKGROUND: A progressive decline in pancreatic function is possible in cystic fibrosis (CF) patients with exocrine pancreatic sufficiency. The secretin-cholecystokinin test is invasive and not acceptable as a repeatable procedure for children. Steatorrhea, conversely, has low sensitivity. Therefore, the aim of the present study was to evaluate the usefulness of the noninvasive fecal elastase-1 (E1) test for the longitudinal assessment of exocrine pancreatic function (EPF) in pancreatic-sufficient (PS) CF patients. METHODS: One hundred eighty-four CF patients were included in the study. In all subjects, E1 concentrations and fecal fat excretion were measured. PS patients were followed for 5 years. RESULTS: At the beginning of the study, 35 (19.0%) CF patients were PS, and 32 (17.4%) had normal E1 concentrations. Longitudinal measurements of E1 concentrations in PS patients with CF demonstrated stable enzyme output in 27 and gradual decrease in 8. The decrease was rapid in five infant patients and gradual in three older patients. The decrease of E1 concentrations preceded the appearance of steatorrhea in all eight subjects. CONCLUSIONS: The decline of EPF in patients with CF appears more frequently during the first months and years of life. However, late PS to pancreatic-insufficient (PI) conversion is also possible. The appearance of maldigestion is preceded by the decrease of fecal E1 concentration. Thus, the fecal E1 test is a helpful screening tool for the longitudinal assessment of declining EPF in PS patients with CF to demonstrate pancreatic deterioration. In suspected patients, fecal fat excretion should be assessed.     

肺炎支原体肺炎患儿口咽部常见细菌及临床意义北大核心CSCD

目的:了解肺炎支原体肺炎(MPP)患儿口咽部常见细菌及临床意义。方法:回顾性分析。选取中国医科大学附属盛京医院小儿呼吸内科2016年12月至2017年6月住院治疗的134例MPP患儿为研究对象,选取同期同医院42例健康儿童为健康对照组。采用荧光定量聚合酶链反应Taqman探针法检测入组儿童口咽部常见细菌[肺炎链球菌(SP)、卡他莫拉杆菌(CTA)、流感嗜血杆菌(HI)]。首先比较MPP患儿及健康儿童口咽部细菌检出情况,再将134例MPP患儿根据年龄(<1岁、1~<3岁、3~<6岁及6~14岁)、有无细菌检出[肺炎支原体(MP)、MP+细菌]及检出菌种不同(MP+SP、MP+CTA及MP+HI)进行分组比较。采用秩和检验及 χ^(2)检验对相关临床资料进行分析。 结果:134例MPP患儿检出细菌79例(58.96%),42例健康儿童检出细菌17例(40.48%),差异有统计学意义( χ^(2)=4.404, P<0.05)。与MP组相比,MP+细菌组外周血中白细胞(WBC)水平[8.5(6.7,12.0)×10^(9)/L比7.8(5.8,9.3)×10^(9)/L, Z=-2.232]、C反应蛋白(CRP)水平[19.2(7.2,35.0) mg/L比8.4(3.4,24.6) mg/L, Z=-2.810]、乳酸脱氢酶(LDH)水平[286(244,365) U/L比250(210,302) U/L, Z=-2.474]及大叶性肺炎比例[40.51%(32/79例)比18.18%(10/55例), χ^(2)=7.510]、胸腔积液比例[13.92%(11/79例)比3.64%(2/55例), χ^(2)=3.917]、难治性肺炎支原体肺炎(RMPP)比例[34.18%(27/79例)比18.18%(10/55例), χ^(2)=4.151]均较高;总热程[10(7,12) d比8(6,10) d, Z=-2.706]及抗生素使用时间[16(13,19) d比12(9,16) d, Z=-3.747]均较长,差异均有统计学意义(均 P<0.05)。MP+SP组外周血中WBC高于MP+HI组[12.20(7.80,17.30)×10^(9)/L比6.75(5.37,9.44)×10^(9)/L],差异有统计学意义( Z=11.574, P<0.05);MP+SP组[56.67%(17/30例)]大叶性肺炎发生率高于MP+CTA组[0(0/3例)]和MP+HI组[18.75%(3/16例)],差异有统计学意义( χ^(2)=9.770, P<0.05)。 结论:MPP患儿口咽部更易发生细菌定植或感染,当WBC、CRP及LDH均明显升高,影像表现为大片实变影或有胸腔积液时,提示可能混合细菌感染,热程更长,难治性MPP比例增高,且常见的混合细菌为SP。     

Orthodontic treatment need in the Italian child population.

AIM: To assess orthodontic treatment need in the Italian child population using the R.O.M.A. (Risk Of Malocclusion Assessment) Index. STUDY DESIGN: Observational study (cross-sectional). MATERIALS, METHODS AND RESULTS: The ROMA Index was used in examining a sample of 420 children (214 males and 206 females; mean age: 9.3 years), none of whom had previously undergone orthodontic treatment. This basic sample was large enough to become the object of an epidemiological study and to be analysed through inferential statistics. After calculating the prevalence of malocclusion on the basis of the degrees of orthodontic risk determined by the Index, we evaluated the distribution of the most frequent characteristics, signs and symptoms within each risk grade. The percentage of children in each risk category was then worked out, together with its 95% confidence interval, in order to verify whether our results could be generalised to the reference population. Significantly, 50% of the examined children were classified as 'at moderate risk', as defined by grade 3 of the Index (non-severe alterations in dental and/or skeletal relationships, but tending to persist and often worsen with growth). Equally remarkably, a further 36% fell within grade 4 of the Index ('great risk'), presenting major craniofacial skeletal malformations and alterations of the occlusion, often in association with systemic or growth disorders likely to worsen the prognosis. Thus, since patients at moderate or great risk amounted to 86% of the basic sample, it appears that our estimate can be generalised to the reference population of Italian pre-adolescent children. CONCLUSION: The study showed a high percentage of children at moderate or great risk (86%), and that this estimate can be generalised to the reference population of Italian pre-adolescent children. These findings should be taken into great account in devising strategies to improve patient service quality, whether in public or private settings, and also in planning preventive measures and interventions.     

Evidence for Suprachiasmatic Vasopressin Neurones Innervating Kisspeptin Neurones in the Rostral Periventricular Area of the Mouse Brain: Regulation by Oestrogen

In rodents, a circadian signal from the suprachiasmatic nucleus (SCN) is essential for the pro‐oestrous surge of gonadotrophin‐releasing hormone (GnRH), which, in turn, induces luteinising hormone (LH) surge and ovulation. We hypothesised that kisspeptin (KP) neurones in the anteroventral periventricular and periventricular preoptic nuclei (AVPV/PeN) form part of the communication pathway between the SCN and GnRH neurones. In anterograde track tracing studies, we first identified vasopressin (VP)‐containing axons of SCN origin in apposition to KP‐immunoreactive (IR) neurones. Studies to quantify this input relied on the observation that VP‐synthesising neurones in the SCN differ from other VP systems in their lack of galanin expression. In ovariectomised mice, 30.79 ± 1.63% of KP‐IR perikarya and proximal dendrites within the AVPV/PeN received galanin‐negative VP‐IR varicosities. Oestrogen‐treatment significantly increased the number of KP‐IR neurones, with their percentage apposed by galanin‐negative VP‐IR varicosities (46.95 ± 1.88%) and the number of VP‐IR appositions on individual KP‐IR neurones. At the ultrastructural level, the VP‐IR terminals formed symmetric synapses with KP‐IR neurones, which was in accordance with the morphology of inhibitory synapses established by SCN neurones. By contrast to VP, vasoactive intestinal polypeptide (VIP), which is synthesised by a distinct subset of SCN neurones, occurred only rarely in axons apposed to KP‐IR neurones. Altogether, our results are consistent with the hypothesis that KP neurones located in the mouse AVPV/PeN receive circadian information from the SCN via a vasopressinergic monosynaptic pathway, which is enhanced by oestrogen.     

Metabolic syndrome risk factors and estimated glomerular filtration rate among children and adolescents

The aim of this study was to seek the possible relationship between estimated glomerular filtration rate (e-GFR) and anthropometric indexes, lipids, insulin sensitivity, and metabolic syndrome risk factors among healthy children and adolescents. Sufficient evidence suggest that obesity is related with a novel form of glomerulopathy named obesity-related glomerulopathy (ORG) among adults, children, and adolescents. Glomerular filtration rate was estimated from serum creatinine in 166 healthy children and adolescents [79 males, 87 females; age 10.6 ± 3.3 (3–18) years]. Anthropometric indexes and systolic and diastolic blood pressure were measured. Fasting insulin, glucose, creatinine, uric acid, total cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol, and triglycerides were estimated. Insulin sensitivity was estimated from known formulas. The presence of certain metabolic syndrome risk factors was checked among the studied population. Boys showed higher e-GFR rates than girls (f = 8.49, p = 0.004). We found a strong positive correlation between e-GFR and body weight (r = 0.415), body mass index (BMI) (r = 0.28), waist circumference (r = 0.419), hip circumference (r = 0.364), birth weight (r = 0.164), systolic blood pressure (SBP) (r = 0.305), and mean arterial pressure (MAP) (r = 0.207). A negative correlation was found between e-GFR and fasting glucose (r = -0.19), total cholesterol (r = -0.27) and LDL-cholesterol (r = -0.26). Clustering of metabolic syndrome risk factors among certain individuals was correlated with higher e-GFR rates (f = 3.606, p = 0.007). The results of this study suggest that gender, anthropometric indexes, and SBP are strong positive determinants of e-GFR among children and adolescents. Waist circumference is the most powerful determinant of e-GFR. Fasting glucose and lipid abnormalities are negative determinants of e-GFR among the studied population. Clustering of metabolic syndrome risk factors is coupled with higher e-GFR rates.     

Chronically Increased Intra-abdominal Pressure: Validating a Model

Background  

Pregnancy is the only physiologic condition in which we encounter chronically elevated intra-abdominal pressure (IAP), while pathologically several pathologies, such as ascites and morbid obesity, are affected by this phenomenon. This paper introduces and validates a new model that is able to create and maintain chronically increased IAP, facilitating the study of phenomena related to chronically elevated IAP, i.e., obesity.