Hyperoxaluria and systemic oxalosis: current therapy and future directions

Excessive urinary oxalate excretion, termed hyperoxaluria, may arise from inherited or acquired diseases. The most severe forms are caused by increased endogenous production of oxalate related to one of several inborn errors of metabolism, termed primary hyperoxaluria. Recurrent kidney stones and progressive medullary nephrocalcinosis lead to the loss of kidney function, requiring dialysis or transplantation, accompanied by systemic oxalate deposition that is termed systemic oxalosis. For most primary hyperoxalurias, accurate diagnosis leads to the use of therapies that include pyridoxine supplementation, urinary crystallisation inhibitors, hydration with enteral fluids and, in the near future, probiotic supplementation or other innovative therapies. These therapies have varying degrees of success, and none represent a cure. Organ transplantation results in reduced patient and organ survival when compared with national statistics. Exciting new approaches under investigation include the restoration of defective enzymatic activity through the use of chemical chaperones and hepatocyte cell transplantation, or recombinant gene therapy for enzyme replacement. Such approaches give hope for a future therapeutic cure for primary hyperoxaluria that includes correction of the underlying genetic defect without exposure to the life-long dangers associated with organ transplantation.     

Stratification of Gallstones in the Gallbladder

A clinical approach to the diagnosis of congenital cardiac malformations is described which the authors have found effective in exposing the important signs and their significance. Each available diagnostic method is evaluated separately before all data are correlated.

Clinical diagnosis based on history, physical examination, roentgenography and electrocardiography was 94 per cent accurate in a series of cases seen in office consultation and 90 per cent accurate in a series of hospital cases reviewed. The significance of the various signs and symptoms that are routinely searched for in the physical examination is discussed.

The salient points in the clinical diagnosis of the common entities are presented.     

Probiotic supplementation in the first 6 months of life in at risk Asian infants – effects on eczema and atopic sensitization at the age of 1 year

Background The role of probiotics in allergy prevention remains uncertain but has been shown in some studies to have a possible protective effect on eczema. Objective We aimed to assess the effect of probiotic supplementation in the first 6 months of life on eczema and allergic sensitization at 1 year of age in Asian infants at risk of allergic disease. Methods A double‐blind, placebo‐controlled randomized clinical trial involving 253 infants with a family history of allergic disease was carried out. Infants received at least 60 mL of commercially available cow's milk formula with or without probiotic supplementation [Bifidobacterium longum (BL999) 1 × 10⁷ colony forming unit (CFU)/g and Lactobacillus rhamnosus (LPR) 2 × 10⁷ CFU/g] daily for the first 6 months. Clinical evaluation was performed at 1, 3, 6 and 12 months of age, with serum total IgE measurement and skin prick tests conducted at the 12‐month visit. The primary and secondary end‐points were eczema and allergen sensitization, respectively. Results The incidence of eczema in the probiotic (22%) group was similar to that in the placebo group (25%) (P=0.53). The median Scoring Atopic Dermatitis score at 12 months was 17.10 (9.74) in the probiotic group and 11.60 (8.40) in the placebo group (P=0.17). The prevalence of allergen sensitization showed no difference (probiotic=24% vs. placebo=19%, P=0.26). The total IgE geometric mean (95% confidence interval) was 18.76 (12.54–24.98) kU/L in the probiotic group and 23.13 (16.01–30.24) kU/L in the placebo group (P=0.15). Atopic eczema (with sensitization) in the probiotic (7.3%) group was comparable to the placebo group (5.8%) (P=0.86). Conclusion Early life administration of a cow's milk formula supplemented with probiotics showed no effect on prevention of eczema or allergen sensitization in the first year of life in Asian infants at risk of allergic disease. Further work is needed to determine whether timing of supplementation, dose and probiotic strain are important considerations.     

早产儿喂养不耐受肠道菌群多样性研究

目的：采用变性梯度凝胶电泳聚合酶链反应（ PCR－DGGE）技术从微生物生态学的角度分析比较喂养不耐受（ FI）与健康早产儿肠道细菌群落结构的多样性及相似性。方法以2013年11月至2014年9月在第四军医大学附属唐都医院儿科新生儿病房诊断为FI的早产儿为FI组。选择与FI组胎龄、日龄、出生体重相匹配的非FI早产儿作为对照组。采集出现FI时和同时间段对照组的粪便标本,进行16SrDNAV3区扩增和变性梯度凝胶电泳（DGGE）,从而分析比较两组间肠道菌群多样性指数及相似性。结果细菌多样性检测显示FI组的肠道菌群多样性指数香农－维纳指数（H）、丰度（S）、均衡度指数（E）和辛普森多样性指数（D）均低于对照组（均P＜0．05）;相似性矩阵图及聚类分析结果显示组内菌群相似性较组间高（P＜0．05）;PCA结果同聚类分析一致。结论肠道微生物群落多样性的改变及群落结构紊乱可能是引起早产儿FI的重要因素。     

益生菌制剂对儿童反复呼吸道感染的疗效和免疫功能影响的系统评价

目的 系统评价益生菌制剂防治儿童反复呼吸道感染（RRTIs）的有效性和安全性,为临床提供循证参考。方法计算机检索PubMed、EMBase、Cochrane图书馆、中国生物医学文献数据库（CBM）、中国学术期刊全文数据库（CNKI）、维普中文期刊全文数据库（VIP）和万方数据库,收集益生菌制剂（试验组）防治儿童RRTIs的随机对照试验（RCT）,检索时限均为建库起至2019年3月。提取资料,用Rev Man 5.3软件进行Meta-分析。结果 共纳入12项研究,878例患者。Meta-分析结果显示,试验组在总有效率［RR=1.31,95%CI（1.22,1.41）,P<0.001］、抗菌药用药时间［MD=-4.42,95%CI（-5.92,-2.91）,P<0.001］、年呼吸道感染次数［MD=-2.30,95%CI（-2.70,-1.89）,P<0.001］、临床体征改善时间均优于对照组（P<0.05）;免疫球蛋白IgG ［MD=1.80,95%CI （1.60,2.01）,P<0.001］、IgA ［MD=0.37,95%CI（0.23,0.51）,P<0.001］、IgM［MD=0.06,95%CI（0.02,0.09）,P=0.002］,T淋巴细胞亚群CD3+［MD=4.48,95%CI（1.48,7.49）,P=0.03］、CD4⁺［MD=3.17,95%CI（1.01,5.55）,P=0.009］和CD8⁺［MD=-4.44,95%CI（-6.52,-2.36）,P<0.05］改善情况均显著优于对照组,差异均有统计学意义（P<0.05）。结论 益生菌可有效治疗儿童反复呼吸道感染,安全性较好。但由于纳入研究数量少,研究质量不统一,尚需要大样本、高质量的临床随机对照研究予以证实。