危重症儿童营养评估及支持治疗指南（２０１８，中国，简化版）

正1指南的目的为推动中国危重症儿童营养支持治疗的普及和规范,并促进相关科研工作开展,中华医学会儿科分会急诊学组、中华医学会急诊分会儿科学组和复旦大学附属儿科医院临床指南制作和评价中心,基于临床问题,系统检索和评价国内外研究证据,制定了中国危重症儿童营养支持治疗指南。本指南仅是基于现有研究证据水平的推荐和建议,仅能回答危重症儿童营养支持治疗的若干问题,不能替代不同PICU条件下的个体化治疗。本指南不涉及特定疾病的营     

危重症儿童营养评估及支持治疗指南（２０１８，中国，标准版）

正1指南的目的为推动中国危重症儿童营养支持治疗的普及和规范,并促进相关科研工作开展,中华医学会儿科分会急诊学组、中华医学会急诊分会儿科学组和复旦大学附属儿科医院临床指南制作和评价中心,基于临床问题,系统检索和评价国内外研究证据,制定了中国危重症儿童营养支持治疗指南。本指南仅是基于现有研究证据水平的推荐和建议,仅能回答危重症儿童营养支持治疗的若干问题,不能替代不同PICU条件下的个体化治疗。本指南不涉及特定疾病的营     

新生儿缺氧缺血性脑病药物治疗临床证据

目的：药物治疗是缺氧缺血性脑病（hypoxic-ischemic encephalopathy,HIE）治疗的重要组成部分,以循证医学方法为基础的系统评价和临床随机对照试验为判定药物干预疗效提供了最可靠的证据。该研究检索了近年来的HIE药物治疗的临床证据,并探讨其临床应用价值。方法：检索MEDLINE、EMBASE、Oxford围产新生儿组资料库和Cochrane图书馆关于HIE药物治疗的随机（或半随机）对照研究（randomized or quasi-randomized controlled trials, RCT）和系统评价,并进行分析。结果：4个系统评价和13个RCT涉及HIE的药物治疗临床试验。治疗药物包括巴比妥类药物、别嘌呤醇、硫酸镁、甘露醇、纳络酮和多巴胺。上述药物均不能显著降低HIE患儿新生儿期和婴儿期死亡率以及严重神经发育残疾率和惊厥发生率。结论：目前尚未有临床证据表明某种药物能明显降低HIE患儿死亡率及改善神经系统预后。现有HIE药物治疗的临床试验存在规模小,疗效判定方法不统一等问题,需大规模的临床协作试验证实现有药物的有效性。［中国当代儿科杂志,2009,11（9）：740-744］     

儿童急性腹泻治疗的循证评价

对儿童急性腹泻的治疗方法进行疗效和安全性的循证评价.使用相关的检索词检索MEDLINE,EMBASE,Cochrane laboratory数据库至2006年12月,获取发表的、关于儿童急性腹泻治疗方面的系统评价和随机对照试验,并且参考美国、英国等国家的"儿童急性腹泻的临床治疗指南"和"中国腹泻病诊断治疗方案",应用循证医学的方法,对儿童急性腹泻的各种治疗方法进行评价.现有的证据显示,儿童急性腹泻的治疗主要依赖于简单而有效的口服补液治疗,强调早期恢复进食.近年来的治疗新进展包括补锌能减轻腹泻的严重程度和减少腹泻的发生率,低渗性口服补液盐在全球的应用,益生菌能缩短腹泻病程.     

重视儿童神经系统疾病相关视力障碍

当儿童出现与眼部症状相关的神经系统疾病时,临床医生需要知道其与成人相比有不同之处,如儿童往往以先天性疾病和肿瘤性疾病较其他病种多见;早期、快速地发现和诊断,尽早恢复和建立患儿视功能更容易,也更重要。文章主要论述儿童与损伤眼传入系统相关的疾病,如儿童视神经炎及视神经脊髓炎谱系障碍,遗传性视神经病(Leber病、Kjer视神经病、Wolfram综合征),视神经发育不全等。由于儿童的眼和神经系统均处于生长发育中,同时儿童又无法准确描述自己的症状,因此往往延误诊断,甚至视力丧失。因此在临床工作中,医生只有早期发现、早期诊断和治疗儿童视力障碍相关的神经系统疾病,才能最大限度避免儿童出现视力减低或永久性盲。     

新生儿呼吸窘迫综合征呼吸治疗的选择

目的 针对近期收治的1例生后即气管插管内导入PS治疗后出现双侧肺通气不均的NRDS患者，检索当前最佳证据, 并对其进行评价，以指导临床正确合理地使用。方法 首先提出临床问题，然后对MEDLINE (1993～2008年)、tripdatabase(1993～2008)、Cochrane Lib(2008 Issue 2)进行检索，并对检索到的证据进行评价。检索词为preterm infant、respiratory distress syndrome、pulmonary surfactant and ventilation。结果 共检索到系统评价8篇，临床指南3篇，随机对照试验9篇。结论 临床指南、系统评价和随机对照试验为我们选择和运用最佳治疗方案提供了有力证据。     

重组人类生长激素治疗儿童X-连锁低血磷性佝偻病

目的评价重组人类生长激素(rhGH)治疗儿童X-连锁低血磷性佝偻病(XLH)的临床疗效与安全性。方法检查Cochrane囊性纤维化及遗传性疾病工作组建立的先天性代谢缺陷数据库。手检相关骨和矿物质代谢的杂志和会议摘要。纳入所有单独采用重组人类生长激素或联合传统疗法与安慰剂或单用传统疗法治疗儿童XLH作比较的随机对照试验或半随机对照试验。2个评价员独立选择纳入的试验、评价试验的方法学质量及提取数据。结果只有1个研究符合该系统评价的纳入标准，且样本鼍小。rhGH治疗可能改善XLH患儿身高增长，并可因暂时减少尿磷的排出而提高血磷水平。结论尚没有足够的证据显示rhGH是否对患儿的身高增长、矿物质代谢、内分泌、肾功能、骨矿密度和上下部量比例有影响。     

《实用儿童保健学》(第2版)出版北大核心CSCD

黎海芪教授主编的《实用儿童保健学》(第2版)由人民卫生出版社出版。全书共7篇34章,在第1版基础上,补充新知识、新技术,从临床需要出发,全面讲述儿童保健临床实际内容。设立儿童保健学总论,体格生长与相关疾病,体格生长评价,神经、心理、行为发育与相关疾病,常见遗传性疾病诊断与鉴别,儿童营养、环境与健康,疾病预防等7篇,增加部分新章节,神经系统发育部分补充口腔运动敏感发育、大小便控制神经系统发育与功能鉴别,以及婴幼儿手势发育.     

新生儿坏死性小肠结肠炎临床诊疗指南（2020）

坏死性小肠结肠炎（NEC）是新生儿尤其是早产儿的严重胃肠道疾病,其发病率和病死率高。存活的患儿可能遗留消化系统和神经系统后遗症。因此,防治NEC对提高新生儿存活率及生存质量具有重大意义。该指南基于目前国内外相关研究,采用证据推荐分级评估、制定与评价方法（GRADE）,制定NEC临床诊疗循证指南,旨在为NEC的诊断和防治提供证据和参考。     

儿童髓鞘少突胶质细胞糖蛋白抗体相关疾病临床实践指南(2023)

髓鞘少突胶质细胞糖蛋白抗体相关疾病是儿童特发性炎症性中枢神经系统脱髓鞘疾病中最常见的类型, 由于对该病的认识时间较短, 诊疗过程中仍存在许多问题。为进一步提高该病的诊疗水平, 中华医学会儿科学分会神经学组联合复旦大学附属儿科医院复旦大学GRADE中心组织制订"儿童髓鞘少突胶质细胞糖蛋白抗体相关疾病临床实践指南(2023)", 推荐意见基于当前可得的证据, 采用循证方法进行系统评价和证据评级, 针对6个重要问题形成推荐意见。     

Bibliometric data: a disaster for many non-American biomedical journals

Bibliometric data published by the Institute of Scientific Information in Philadelphia (ISI), and which was previously discussed in Acta Paediatrica , has increasingly been used despite all the relevant and severe criticism that has been raised against this method of evaluating individual research results and grading scientific journals. It is obvious that the present trend regarding the use of bibliometric data as a basis for priorities and funding of research and for the promotion of individual scientists favours American-oriented research projects at the expense of those that are based on concepts of predominantly European relevance.

Conclusion: For the future of non-American research, it is important that no single super-power, i.e. the USA, should dominate scientific priorities. The condition for efficient European competition is that European Centres with high levels of competence for creative research and training of scientists from all over the world are established. In addition, it is important that the results of European research are published in prestigious European journals, as was the situation before World War II.     

The importance of different immunosuppressive regimens in the development of posttransplant diabetes mellitus

Solid-organ transplantation is the optimal long-term treatment for most patients with end-stage organ failure. After solid-organ transplantation, short-term graft survival significantly improved (1). However, due to chronic allograft nephropathy and death with functioning graft, long-term survival has not prolonged remarkably (2). Posttransplant immunosuppressive medications consist of one of the calcineurin inhibitors in combination with mycophenolate mofetil (MMF) or azathioprine (Aza) and steroids. All of them have different adverse effects, among which posttransplant diabetes mellitus (PTDM) is an independent risk factor for cardiovascular (CV) events and infections causing the death of many transplant patients and it may directly contribute to graft failure (3). According to the criteria of the American Diabetes Association (4), diabetes mellitus (DM) is defined by symptoms of diabetes (polyuria and polydipsia and weight loss) plus casual plasma glucose concentration ≥ 11.1 mmol/L or fasting plasma glucose (FPG) ≥ 7.0 mmol/L or 2-h plasma glucose level ≥ 11.1 mmol/L following oral glucose tolerance test (OGTT). This metabolic disorder occurring as a complication of organ transplantation has been recognized for many years. PTDM, which is a combination of decreased insulin secretion and increased insulin resistance, develops in 4.9/15.9% of liver transplant patients, in 4.7/11.5% of kidney recipients, and in 15/17.5% of heart and lung transplants [cyclosporine A (CyA)/tacrolimus (Tac)-based regimen, respectively] (5). Risk factors of PTDM can be divided into non-modifiable and modifiable ones (6), among which the most prominent is the immunosuppressive therapy being responsible for 74% of PTDM development (7). Emphasizing the importance of the PTDM, numerous studies have determined the long-term outcome. On the basis of these studies, graft and patient survival is tendentiously (8) or significantly (9, 10) decreased for those developing PTDM.     

alpha -SMOOTH MUSCLE ACTIN DISTRIBUTION IN THE PULMONARY VASCULATURE COMPARING HYPOPLASTIC AND NORMAL FETAL LUNGS

We investigated the intra-acinar pulmonary vascular muscularization in the developing human fetal lung between the 17th and 24th gestational weeks, that is, during the canalicular phase of lung development. Fifteen hypoplastic and 25 normal developed lungs were included in this study using monoclonal alpha -smooth muscle (sm) actin antibodies for smooth muscle detection. Computer-aided image analysis was performed for morphometrical measurements and statistical evaluation. Alphasm-actin-immunoreactive intra-acinar vessels down to a luminal diameter of less than 10 mu m were detected in hypoplastic as well as in normally developed lungs. Crucial differences presented as follows: significantly higher density of intra-acinar vessels, especially due to alpha -sm-actin-negative vessels less than 30 mu m in luminal diameter, in the control group; significantly higher alpha -sm-actin immunoreactivity per section unit as well as per vessel in the hypoplastic lung group. As suggested by others, alpha-sm-actin-positive cells of the intra-acinar vessel wall in the developing human lung were demonstrated to be smooth muscle cells, their immediate precursors, and pericytes. We conclude that the increased alpha -sm-actin immunoreactivity represents muscularization of the vessel wall in functional terms and may be regarded as one structural cause among others for the establishment of persistent fetal circulation in hypoplastic lungs.     

Whole-body mineral measurements in Swedish adolescents at 17 years compared to 15 years of age

Aim: To provide reference data for bone mineral variables in 15- and 17-y-old adolescents and to analyse the relationships between these variables and measures of bone and body size, gender, puberty, growth, various lifestyle and environmental factors and socioeconomic background.

Methods: In the same 321 randomly selected adolescents (147 boys and 174 girls) living in two different regions of Sweden, the total bone mineral content (TBMC), bone area (BA) and total bone mineral density (TBMD) were assessed by dual-energy X-ray absorptiometry at ages 15 and 17 y. The effects of bone and body size, gender, growth, sexual maturity, physical activity, region of domicile, social conditions, food habits, smoking and alcohol intake on TBMC and TBMD were examined in multivariate analyses.

Results: In the 15-y-old adolescents, BA, height, gender, physical activity, maturity and weight explained 91% and 48%, of the variance in TBMC and TBMD, respectively. In similar analyses in the 17-y-olds, the corresponding figures were 92% and 62%, respectively, when BA, height, growth, physical activity, gender and region emerged as significant in the model. In all these analyses, BA explained most of the variance in TBMC and TBMD. No significant reduction of variance was found when different measures of social conditions, smoking, food habits, alcohol or dietary intakes of energy, calcium or vitamin D were included in the models. The reason why region of domicile had a significant impact on TBMC in the 17-y-olds is not known. The fact that the normal fluoride concentration in drinking water (1.1 mg/L) is 10 times higher in the region where TBMC was higher than in the other region is an interesting observation.

Conclusion: Almost 90% of the variance in TBMC and 50% of that in TBMD was explained by measures of bone and body size and only a few percent by gender, physical activity, Tanner stage, growth and region of domicile.     

VARICELLA ZOSTER VIRUS INFECTIONS IN THE PEDIATRIC STEM CELL TRANSPLANT PATIENT

Varicella zoster virus (VZV), a member of the human herpesvirus family, causes the clinical syndromes of chickenpox during primary infection and shingles on later reactivation. In immunocompromised patients, including those undergoing hematopoietic stem cell transplantation, VZV can produce life-threatening infections. The most serious forms of VZV infection involve hematogenous dissemination of the virus to vital organs, such as the lung, brain, and liver. Advances in immunoprophylaxis, antiviral chemotherapy, and vaccine development have provided effective tools to limit the morbidity and mortality previously associated with VZV infection in hematopoietic stem cell transplant patients. In this review, we discuss virologic aspects of VZV, pathogenesis of VZV infection, methods of viral diagnosis, clinical manifestations of infection in both normal and immunocompromised patients, and available preventative and therapeutic measures.     

The potential role of rapamycin in pediatric transplantation as observed from adult studies

Although pediatric patient and renal graft survival rates have shown marked improvements during the past decade, the persistent toxicities of immunosuppressive drugs and chronic allograft attrition remain major obstacles in transplant therapy. Results in adult patients suggest that complete steroid withdrawal is possible in the majority of recipients under treatment with a cyclosporin A-rapamycin (CsA RAPA) regimen. Furthermore, preliminary studies suggest that a marked reduction in the dose of CsA may be possible under the umbrella of RAPA coverage. The gain in immunosuppressive efficacy afforded by RAPA has not only been obtained without an increased morbidity owing to infectious or neoplastic causes, but also with the potential for reducing the incidence and/or progression of chronic rejection.     

GENETICS OF CARNEY COMPLEX AND RELATED FAMILIAL LENTIGINOSES, AND OTHER MULTIPLE TUMOR SYNDROMES

Carney complex is a multiple endocrine neoplasia (MEN) syndrome that affects the adrenal cortex, the pituitary and thyroid glands, and the gonads. The complex is also associated with skin and mucosa pigmentation abnormalities and myxoid and other neoplasms of mesenchymal and neural crest origin. Thus, this syndrome also belongs to another group of genetic disorders, the lentiginoses (or lentigenoses), which include the Peutz-Jeghers, LEOPARD, arterial dissections and lentiginosis, and Laugier-Hunziker syndromes, Cowden disease and Ruvalcaba-Myhre-Smith (Bannayan-Zonana) syndrome and the centrofacial, benign patterned and segmental lentiginoses, all of which can be associated with a variety of developmental defects. The inheritance of Carney complex, just like that of the other MENs and the lentiginoses, is autosomal dominant. Genetic loci or genes have been identified for Carney complex, Peutz-Jeghers and Ruvalcaba-Myhre-Smith syndromes, but not for other lentiginoses. Elucidation of the molecular defects responsible for these disorders is expected to shed light on aspects of early neural crest differentiation, the regulation of pigmentation, the development of autonomous endocrine function, and endocrine and nonendocrine tumorigenesis.     

All you ever wanted to know about infant formulas (but were afraid to ask)

The World Health organisation recommends breast feeding infants for the first six months of life. When this breast feeding does not occur either through parental choice or medical need, infant formulas will be required. There is a bewildering array of formulas on the UK market for many different requirements. When faced with an unsettled infant many parents (and health care professionals) will experiment with the infant formula available and often attend the paediatric clinic looking for help and advice. It is therefore essential that paediatricians understand what milks are available and what the key differences between different products are. This review attempts to provide a simple guide through many of the formulations currently available in the UK; and offers advice for the dietary management of the child with extra calorie requirements, infants with cow's milk protein allergy, gastro oesophageal reflux disease, apparent unresolved hunger and infantile colic. Whatever the underlying condition, there is likely to be an infant formula that is suitable in this generation of ever expanding formulations.     

Génétique des schizophrénies : mise en perspective des schizophrénies à début précoce et autres pathologies du développement

Schizophrenia (SCZ) is a severe brain disorder characterized by hallucinations, delusions, flat and/or inappropriate affect and cognitive impairment. The lifetime risk is about 0.5% with heritability of 65–85%. The prevalence of early-onset schizophrenia (defined here as before 15 years of age) has not been well studied, but is likely to be 5–10% of all cases. The rarity of early-onset SCZ has made it difficult to study. We focus on genetic studies of adults with schizophrenia, highlighting results for early-onset schizophrenia where available. Prior to the past 5 years, studies failed to find replicable association or linkage between SCZ and specific genes when appropriate statistical corrections for multiple testing were used. Many false positive results were probably reported using the candidate gene approach. Recently, the development of single nucleotide polymorphism (SNP) “chips” has permitted large genome-wide association study (GWAS) analyses that suggest that across all age groups, a proportion of genetic risk can be attributed to a large number of common SNP, each with a very small effect on risk (odds ratios of 1.1 or less). The greatest known genetic effect is conferred by the 1.5–3 Mb 22q.11.2 deletions, which occurs in ∼ 1/4000–1/6000 births with SCZ developing in 20–30% of carriers. Large SNP and aCGH microarray studies have now identified associations between SCZ and other rare, large copy number variations (CNV, insertions and deletions) with high odds ratios (5–10), including deletions of 1q21, 2p16.3 (neurexin-1 gene), 3q29 and 15q13.3, and duplications of 16p11.2. Some of these CNV are also associated with autism or other developmental disorders as well as epilepsy or intellectual deficiency, suggesting some overlap in the mechanisms that contribute to risks of these disorders. Based on preliminary data from larger-scale analyses in progress, approximately 1–2% of cases carry a CNV that has been clearly associated with SCZ (ORs 4–12). Whole exome and genome sequencing studies of large adult samples will be the next steps to identify rarer SCZ-associated mutations, including point mutations and smaller as well as rarer CNV. Genetic findings are beginning to contribute to an understanding of biological mechanisms of SCZ risk and may lead to new approaches to treatment.     

INACTIVATION OF PULMONARY SURFACTANT AND THE TREATMENT OF ACUTE LUNG INJURIES

Inactivation of pulmonary surfactant may be important in acute lung injury and acute respiratory distress syndrome. Treatment of surfactant dysfunction by instilling exogenous surfactants may improve gas exchange and pulmonary mechanics. Surfactants used for treatment vary in their attributes and effects, so when various surfactants are considered for therapy, resistance to inactivation is an important consideration. Animal models of acute lung injury exist in which the relative merits of surfactants can be compared. We hypothesize that the surfactants most resistant to inactivation in vitro will be the ones that are most effective in treatment of animal models of acute lung injury. Surfactants with higher concentrations of surfactant proteins (specifically A, B, and C) are more resistant to inactivation. Nonionic polymers mimic surfactant proteins in preventing surfactant inactivation under some conditions. Adding nonionic polymers to surfactant containing minimal amounts of SP-B and SP-C markedly improves lung function of animals with lung injury. Making surfactants more "inactivation-proof" may improve surfactant therapy of acute lung injuries.