孕妇甲状腺疾病对胎儿及新生儿的影响

妊娠甲状腺疾病是孕妇常见病,不论甲状腺功能亢进、甲状腺功能减低,还是亚临床型,对胎儿及新生儿均有不良影响,如死胎、流产、胎盘早剥、宫内发育迟缓及低出生体质量儿、早产儿发生率增加,少数还可引起新生儿甲状腺功能亢进或甲状腺功能减低,重者可危及生命或造成神经、心理、体格、智力发育异常.建议孕妇早期应检测甲状腺功能,发现异常即予积极治疗及监测,以降低对子代的影响.     

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儿童甲状腺功能减退(以下简称甲减)为临床常见内分泌疾病,包括先天性或继发性甲减和自身免疫性甲状腺疾病(AITD),如桥本甲状腺炎(HT)及亚临床甲减等。先天性甲减主要是由于胚胎发育过程中甲状腺组织发育异常、缺如或异位,甲状腺激素合成过程中酶缺陷,造成甲状腺激素分泌不足,导致机体代谢障碍、生长发育迟缓和智力低下。地方性甲减多出现在严重的地方性甲状腺肿流行区,主要病因是胚胎期碘缺乏,由于缺碘使母体与胎儿的甲状腺竞争性摄取有限的碘化物,从而使母体和新生儿的甲状腺激素合成不足。由于医学的发展和不断进步,经过新生儿筛查可以…     

重组人生长激素治疗对儿童甲状腺功能和骨骼的影响

现介绍了重组人生长激素(rhGH)的作用机制及其对儿童骨骼发育、甲状腺轴功能的影响.其中详细阐述了垂体-甲状腺轴与垂体-生长激素轴对骨骼生长发育的相互作用,从而明确了rhGH替代治疗对这2个与儿童生长发育至关重要的内分泌轴功能的影响.并进一步明确了rhGH治疗可能干扰儿童骨骼发育及甲状腺轴功能不良反应的发生率及治疗方案.     

甲状腺功能异常早产儿干预治疗的随访研究

目的 探讨甲状腺功能异常早产儿给予左旋甲状腺素钠片治疗后对生长发育及甲状腺功能的影响。 方法 选取2013年1月1日至2017年12月31日在云南省第一人民医院产科出生后于该院新生儿科住院,并在该院新生儿随访门诊定期随访生长发育及甲状腺功能情况的早产儿82例为研究对象行回顾性分析。根据甲状腺功能检测结果分为甲状腺功能异常组（观察组,n=31）和甲状腺功能正常组（对照组,n=51）。观察组给予口服左旋甲状腺素钠片,对照组未予干预,比较不同胎龄（28周≤胎龄<32周、32周≤胎龄<34周、34周≤胎龄<37周）两组早产儿定期随访至矫正年龄12月龄时的体格、智力发育情况及甲状腺功能的转归。 结果 不同胎龄两组早产儿随访至矫正年龄12月龄时,体格发育指标（身长、体重、头围）比较差异无统计学意义（P>0.05）。28周≤胎龄<32周和32周≤胎龄<34周早产儿Gesell发育量表各能区评分随访至矫正年龄12月龄时,在观察组和对照组间比较差异无统计学意义（P>0.05）。34周≤胎龄<37周早产儿,观察组的大运动能评分在3月龄和12月龄时低于对照组,精细动作能、语言能、适应性能评分在12月龄时均低于对照组（P<0.05）;个人-社会性能评分在3月龄时低于对照组（P<0.05）,但在12月龄时与对照组比较差异无统计学意义（P>0.05）。甲状腺功能异常早产儿给予左旋甲状腺素钠片治疗,2~4周甲状腺功能均恢复正常,甲状腺功能恢复正常并完全停药的患儿有21例（68%）,其新生儿疾病筛查结果均正常（100%）;未能停药患儿10例（32%）,仅2例筛查结果正常,与甲状腺功能恢复正常并完全停药患儿的新生儿疾病筛查结果比较差异有统计学意义（P<0.05）。 结论 甲状腺功能异常早产儿及早诊断并进行合理规范的治疗,可以在一定程度上减少对生长发育的影响。早产儿甲状腺功能异常多为暂时性,新生儿筛查结果呈阳性的早产儿发展为永久性甲状腺功能异常的可能性大。     

抗癫癎药物对儿童生长发育的影响

长期应用抗癫癎药物(AEDs)对儿童生长发育会造成一定的影响.AEDs主要对儿童骨代谢、甲状腺功能、体重等产生影响.长期应用AEDs可能会引起不同程度的骨代谢改变,主要是骨密度下降、骨生化指标异常(骨形成减少或骨吸收增加).另外,长期应用AEDs可造成甲状腺激素水平下降,引起亚临床型甲状腺功能减退.体重增加或减少也影响着儿童生长发育,但影响过程较为缓慢,临床表现轻重不一,往往被忽视.因此定期监测癫癎患儿的生长发育对提高其生活质量意义重大.     

Graves病孕母的婴儿甲状腺功能及智能发育情况的观察

我们通过新生儿疾病筛查网络系统，对Graves病孕母的婴儿甲状腺功能及智能发育进行了追踪观察、干预，分析了导致婴儿甲状腺功能和智能发育异常的危险因素。报告如下。     

Turner综合征内分泌异常研究进展

Turner综合征(TS)是由于一条X染色体完全或部分缺失所致,常合并内分泌功能异常,如甲状腺异常、生长发育障碍及糖脂代谢紊乱等。在TS患儿长期随访过程中应注意定期监测甲状腺自身抗体、甲状腺功能、血糖及血脂等指标,早期发现各种合并症并及时干预,从而改善患儿生活质量。     

妊娠期营养

从妊娠开始到哺乳期终止是母体经受一系列生理调节的过程。妇女在妊娠期间不仅要维持自身的营养需要,还要保证胎儿的生长发育及乳房、子宫和胎盘等发育的需要,也要为分娩和产后授乳作好营养贮备。适宜营养直接关系到胎儿、婴幼儿乃至青少年及成人体格、智力的全面发展,对母体及婴幼儿的健康有重要意义。一、孕妇营养对胎儿、婴儿的影响孕妇营养对子代的影响曾有过争议。目前,大多认为孕期营养对子代有明显影响。美国母亲食品及营养委员公,收集了有关孕期营养与其预后关系的大量资料后,提出孕期营养充足与否与下列7项指标的高低有关:①母、婴死亡率;②自然流产;③早产;④     

白细胞介素-17在子代孤独症谱系障碍中的相关研究进展北大核心CSCD

白细胞介素-17(IL-17)在机体免疫应答以及炎症性反应中起着十分重要的作用。研究发现高水平的IL-17与多种自身免疫性疾病、急慢性神经退行性疾病和精神疾病的发病有关。孤独症谱系障碍(ASD)是一组儿童时期较为常见的神经发育障碍性疾病, 近期的临床及实验研究将妊娠期母体免疫激活(MIA)与子代患ASD风险联系起来。研究发现, IL-17水平在MIA诱导的子代ASD中明显升高, 是MIA导致子代小鼠神经发育异常的关键因素。现通过阐述IL-17与子代ASD间的最新研究进展, 为ASD的预防和治疗提供新的思路。     

自体外周血造血干细胞移植患儿的远期随访

为探讨自体外周血造血干细胞移植（Ａｕｔｏ－ＰＢＳＣＴ）预处理的远期毒副作用，对８例Ａｕｔｏ－ＰＢＳＣＴ术后生存４～８年的恶性肿瘤患儿进行了随访。结果，８例患儿生长发育、神经精神发育、肾上腺皮质功能及免疫功能均正常。７例患儿甲状腺功能正常，１例发生代偿性甲状腺功能低下。５例进入青春期的患儿中４例性腺功能基本正常，１例男性性腺发育迟缓（伴有继发性血色病）。发现轻度白内障５例。５例丙型肝炎抗体阳性，其中４例肝功能异常，１例患乙型肝炎。提示，恰当的预处理方案对患儿远期生长发育、神经精神系统、内分泌、免疫系统无影响或影响较小，但轻度白内障发生率高，乙型肝炎、丙型肝炎在其治疗过程中的预防应引起重视。     

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.