儿童肺血管栓塞性疾病

近年来,儿童肺血管栓塞性疾病在临床的发生率有所增长。儿童肺栓塞跟成人不同,其临床表现无明显特异性,血流动力学不稳定少见,容易误诊漏诊,病死率较高。治疗上大部分经验来自于成人,儿科医生对本病的药物使用经验不足。该文对儿童肺栓塞的流行病学、风险因素、临床表现、诊断、治疗、预防及预后等方面的诊治进展进行综述,以提高临床医生对本病的认识,做到早诊断、早治疗,降低病死率。     

Insect allergy in children

Allergic reactions to insect bites and stings are common, and the severity of reactions range from local reaction to anaphylaxis. In children, large local reaction to bites and stings is the most common presentation. Stings from insects of the order Hymenoptera (bees, wasps and ants) are the most common cause of insect anaphylaxis; however, the proportion of insect allergic children who develop anaphylaxis to an insect sting is lower than that of insect allergic adults. History is most important in diagnosing anaphylaxis, as laboratory tests can be unreliable. Venom immunotherapy is effective, where suitable allergen extract is available, but is only warranted in children with systemic reactions to insect venom. Large local reactions are at low risk of progression to anaphylaxis on subsequent stings, and hence, venom immunotherapy is not necessary.     

Cultural variation in values attached to informed choice in the context of prenatal diagnosis

One of the ethical implications of the widespread introduction of non-invasive prenatal diagnosis (NIPD) is that it might undermine the making of informed choices. There is an almost universal agreement among health professionals and policy makers that prenatal testing decisions should reflect informed choices. It is, however, unclear the extent to which this is a universally held value. We present evidence to suggest that although informed choice is highly valued in Western, individualistically orientated countries, it is less highly valued in non-Western, more collectivist countries. This raises questions as to whether it is beneficial - and indeed appropriate - to recommend facilitating informed choices in countries where this is not a dominant value.     

Leukaemias: a review

Leukaemia is the most common cancer in children. Leukaemia results from clonal proliferation of stem cells and leads to bone marrow failure. Symptoms at presentation include bruising, bleeding, pallor due to anaemia and infection. The incidence is approximately 5 in 100 000 children. The cause is largely unknown although there is a predisposition in certain congenital conditions such as Fanconi's Anaemia and Down's syndrome and there is some understanding of how genetic mutations may cause leukaemia, but this is not thought to be a single event. The treatment of acute lymphoblastic leukaemia in children older than 1 year is extremely successful and continues to improve. Treatment is tailored according to response (minimal residual disease directed). Multi-agent immunosuppressive chemotherapy, with central nervous system prophylaxis is given over 2–3 years. Acute myeloid leukaemia is five times less common than acute lymphoblastic leukaemia and is treated intensively for 4–5 months and cure rates have remained at 60–70% for two to three decades. Survival has improved due to better supportive care. Chronic myeloid leukaemia is rare and treated with tyrosine kinase inhibitors and as in preleukemic conditions (myelodyplasia) may require allogenic bone marrow transplant.     

Biliary atresia recent insight

Biliary atresia (BA) is a rare disease characterized by ascending obstruction of bile ducts that exclusively affects newborn infants. The etiology of the disease is not known. BA is considered to be a phenotype resulting from several pathogenic processes leading to obstruction of the biliary tree. It usually presents shortly after birth, characterized by persistent jaundice, hepatosplenomegaly, clay-colored stool, and dark urine. It affects both the extra-hepatic biliary ducts (EHBDs) and the intra-hepatic biliary system (IHBDs), but the former is more severely affected. Diagnosis of BA is a great challenge and must be achieved as early as possible to delay progression to cirrhosis. Laboratory tests reveal direct hyperbilirubinemia and, variable levels of transaminases, gamma-glutamyl transpeptidase (GGT), and alkaline phosphatase (ALP), which overlap significantly with other causes of neonatal cholestasis. The intraoperative cholangiogram is considered the gold standard for the diagnosis of BA and is performed routinely in many institutions. BA can be divided into correctable and non-correctable types; the former accounts for (10–15%) of cases, in which the proximal common hepatic duct is patent, allowing primary anastomosis of the EHBDs to the bowel. All patients are subjected to identical surgical and medical treatments; consisting of Kasai portoenterostomy (KPE), which entails removal of the atretic extra-hepatic tissue and a Roux-en-Y jejunal loop anastomosed to the hepatic hilum. Kasai portoenterstomy is considered a transition to liver transplantation, as the pathology may be still ongoing. BA is the most frequent indication for liver transplantation in infants, which is the only treatment that can definitively arrest the natural disease course. In conclusion: BA is a serious liver disease that needs to be further studied, and awareness of BA should be increased among the public and health care workers to prevent the complications of this disease.     

地中海贫血产前诊断操作规范建议

产前诊断是地中海贫血（简称地贫）防控最有效的二级预防手段, 其目的是预防重型地贫患儿出生。对有生育重型或中间型地贫患儿的高风险孕妇, 在妊娠10～
14周或17～26周通过介入性取材得到胎儿细胞,提取胎儿脱氧核糖核酸（DNA）后进行地贫基因突变检测,从而对胎儿出生后是否患病做出产前诊断。地贫产前诊断的临床及实验室工作均需要严格的技术要求和质量控制。地贫的植入前遗传诊断技术要求较高,β地贫基因检测结合HLA配型的植入前产前遗传学诊断技术对生育过重型或中间型β地贫患儿的家庭有较高预防和治疗价值;地贫的无创产前诊断技术尚处于研究阶段,目前仍不能取代介入性取材的产前诊断方法。     

百草枯中毒

百草枯(paraquat,PQ)属联吡啶类除草剂,口服中毒是中毒的主要途径,PQ中毒病死率极高.目前PQ中毒机制尚不完全清楚,多认为PQ吸收后,产生大量的氧自由基引起组织器官细胞膜脂质过氧化,造成多器官功能障碍,其中以肺损伤最常见且最严重,常导致肺水肿及肺纤维化.PQ中毒尚无特效解毒剂,治疗包括尽早洗胃、导泻、血液净化、免疫抑制及抗氧化等综合治疗.     

Evaluating and managing neonatal acute renal failure in a resource-poor setting

Acute renal failure (ARF) is encountered in neonatal care where it may be associated with significant morbidities. Pre-renal failure, which is due to impaired renal tissue perfusion, is the commonest type of ARF. It is amenable to treatment with excellent prognosis following prompt diagnosis and timely institution of appropriate intervention. Unfortunately, ARF in the newborn is usually asymptomatic and it is only suspected when a newborn infant has not been observed to pass urine over several hours or when serum Creatinine is observed to be elevated or rising. In resource-poor settings, it is often difficult to conduct detailed evaluation of suspected cases of newborn ARF due to lack of appropriate equipments and infrastructure. Similarly, therapeutic facilities are sparse and there is heavy reliance on conservative management of cases. Such difficulties encountered in the evaluation and management of newborns with ARF in most parts of the developing world, like Nigeria, where diagnostic and therapeutic facilities are limited are highlighted.     

兰尼碱受体磷酸化在脓毒性心肌病中的作用

脓毒症是指是感染引起的全身性炎症反应,是感染、烧伤、严重创伤、大手术、病理产科、中毒及心肺复苏术后常见的并发症,也是诱发脓毒症性休克、多器官功能障碍综合征的重要原因.心脏作为脓毒症所致的多器官功能障碍的主要靶器官之一,脓毒症时常诱发不同程度功能障碍,而心功能障碍可导致脓毒症进一步恶化.兰尼碱受体是一种大分子复杂蛋白组成的受体,是Ca2+通道的成分之一,对于肌肉收缩和心脏节律的调节是必不可少的,参与调节肌浆网释放Ca2+.该文对脓毒症心功能衰竭时,钙离子通道中兰尼碱受体作一综述.     

A practical approach to growth hormone deficiency

Short stature is one of the most frequent reasons for referral to the paediatric endocrinologist. Familial short stature is the commonest cause; however, a child who is unexpectedly small for their family requires careful evaluation. Short stature in itself is not a disease, but growth failure can be a sensitive sign of underlying health issues in children and adolescents. Differentiating short stature due to a non-endocrine cause from an endocrine cause is critical. Of the endocrine causes, growth hormone deficiency (GHD) is rare with a prevalence of approximately 1:4,000 to 1:10,000 but is an important condition warranting careful evaluation and management. In children with GHD, replacement growth hormone (GH) treatment can be highly effective in normalizing height during childhood and in achieving an adult height within the genetic target range. Whilst GHD, once diagnosed, is relatively easy to treat, the diagnosis still remains a challenge. There is no consensus with respect to a gold standard diagnostic test for GHD, and this is usually based upon a combination of clinical, biochemical and radiological data. This article provides a stepwise guide to diagnosing GHD in children.     

Hemodynamic support of the micropreemie: Should hydrocortisone never be left out?

Hemodynamic support for a micropreemie is critically important for preventing mortality and morbidity. An essential consideration in hemodynamic support is insufficient transition from fetal to neonatal circulation and inadequate cortisol production. The first 72 h of life are the most critical, especially when myocardial function is immature and impaired. Therefore, there is a need to determine and adjust preload, myocardial contractility, and afterload appropriately using repeated functional echocardiography. In addition, if myocardial function is not responsive to these attempts at hemodynamic management, hydrocortisone must be used to minimize the suboptimal perfusion burden. Fetal cortisol production is supported by a supply of progesterone from the placenta, and postnatally, adrenal cortisol production in the extremely preterm infant may be inadequate if the infant is placed under excessive stress. This leads to relative adrenal insufficiency which may last for up to several weeks after birth and lead to late-onset circulatory collapse, necessitating treatment with physiological doses of hydrocortisone.     

L’examen psychologique de l’enfant : pratique et déontologie

Psychological assessment of children is a difficult task and is sometimes underestimated by clinicians who fear to be used as technicians rather than psychologists. The aim of this article is to show the relevance and beneficial aspects of a psychological assessment when performed in a scientific and ethical framework. Psychological assessment is viewed as a privileged encounter between a child presenting problems and an expert in child development, psychopathology and assessment. Distinct parts of assessment are described: preliminary interview with the parents and the child, choice of test battery, feedback. Feedback to the child and parents, often neglected because time-consuming, is a key element of assessing. It enables the child (and parents) to feel directly concerned and taken seriously, to understand the outcome of the procedure, to reflect on personal difficulties and assets, to find hope in future development. When the feedback is performed before the final report is written, it enables psychologists to adjust their interpretations, their language and their recommendations.     

Diagnostic laparoscopy-assisted cholangiography in infants with prolonged jaundice

Cholangiography is often crucial for establishing the definitive cause of neonatal jaundice. We present our protocol for using laparoscopy-assisted cholangiography in infants with prolonged jaundice and discuss its benefits. Firstly, a 5 mm supra-umbilical trocar is introduced to create a port for a 0° laparoscope. A 5 mm trocar is then inserted through a right subcostal incision to allow the liver and gallbladder to be visualized. If the gallbladder is of good size, the fundus is exteriorized through the right subcostal trocar site and a catheter is inserted into the gallbladder for cholangiography. If the gallbladder is atretic, the fundus is not exteriorized and a laparotomy is performed for open intraoperative cholangiography because the lumen of an atretic gallbladder is usually not fully patent and cholangiography through its exteriorized fundus often fails. We reviewed 18 jaundiced infants thought to have biliary atresia (BA) who had laparoscopy-assisted cholangiography. At laparoscopy, four patients had good sized gallbladders and minimal to mild liver fibrosis. They underwent cholangiography via the exteriorized fundus, and BA in two cases and biliary hypoplasia in two cases were identified. The remaining 14 had atretic gallbladders and varying degrees of liver fibrosis. Cholangiography via the exteriorized fundus was performed in one patient, but failed and converted to open cholangiography. Open intraoperative cholangiography identified BA in all 14 cases. All BA cases progressed to Kasai portoenterostomy directly after diagnosis. Laparoscopy is used to determine the type of cholangiography to be performed based on the appearance of the gallbladder and this simple, accurate, and safe protocol allows the anatomical structure of the biliary tree to be obtained accurately with minimal surgical intervention.     

AN ASSESSMENT OF VIOLENCE IN A YOUNG MAN WITH ASPERGER''S SYNDROME

Asperger's Syndrome is assumed to be closely related to autism. A case of a 21-yr-old man with Asperger's Syndrome who is frequently violent to his 71-yr-old girlfriend is presented. According to a social-cognitive model of autism, this man is predicted to be markedly impoverished in his appreciation of his victim's thoughts and feelings. Interview-based assessments confirm this deficit, and this is discussed as an important factor in the maintenance of his violence.     

Anti infective properties of breast milk

Present review is focussed on the anti infective properties of breast milk. Breast milk is found to contain many protective factors like immunoglobulins, lysozyme, lactoperoxidase, complement components, cells and lipids. These host resistance factors act against different organisms and provide definite protection to infants from infection and reduce the mortality and morbidity rate. The practice of feeding newborns with expressed breast milk is also common in western countries. It is subjected to heat-treatment before feeding and it is found that these factors can either be destroyed or they remain stable to heat treatment depending upon the temperature and duration of exposure. Colostrum, which is secreted in first few days after birth, is different in its antiinfective properties when compared to mature milk. It contains a high amount of immunoglobulins and other non-specific factors. The preterm milk also contains higher concentrations of immunoglobulins when compared to the term milk. Therefore these serve as an initial step towards providing immunity to newborns.     

83例传染性单核细胞增多症的实验室检查和并发症

目的 　分析传染性单核细胞增多症 (传单 )患儿的实验室检查与并发症 ,利于减少临床漏诊与误诊。方法　回顾性分析 1 995年 1月～ 2 0 0 2年 1 2月我科收治的83例传单患儿的实验室检查特点和并发症的发生情况。结果 　异型淋巴细胞比例增高见于 89 2 %的病例 ,提示为诊断传单简便有效的筛查手段 ,其增高程度与疾病的病情无关。EBV -VCA -IgM的阳性率为 88 5%对传单诊断有重要意义。 36 9%的病例心肌酶谱升高 ;6 8 1 %的病例血沉增快 ;53 9%的病例C -反应蛋白轻度增高 ;73 5%病例发生于 7岁以下儿童 ,7月份及 9份月为发病高峰 ;并发症发生率 78 3%尤以肝脏损害最常见。其次为肺部感染。结论 　大多数传单呈良性临床经过 ,且多具有较典型的临床表现 ,本病并发症常见且多样 ,可累及多种器官。对EBV -VCA -IgM阴性而临床高度怀疑该病病例可采用EBV -PCR扩增技术协助诊断。提高对本病实验室检查特点和并发症的认识 ,有助于减少临床误诊和漏诊。     

Anatomy of the extrinsic nerve supply of the oesophagus in oesophageal atresia of the common type

Cadaver dissections of the oesophagus were carried out to evaluate its extrinsic nerve supply in oesophageal atresia (OA) with distal tracheo-oesophageal fistula. In OA the atresia occurs at an anatomic watershed in the oesophagus. Proximal to the atresia, the oesophageal wall contains striated muscle. There is a known change in the type of muscle that forms the oesophagus as it descends through the chest. As a continuation of the pharynx, its wall is made up entirely of striated muscle, which is gradually replaced by smooth muscle. What percentage of the wall proximal to an atresia is normally striated is not known. Distal to the atresia the oesophagus is a smooth-muscle tube that receives its extrinsic motor nerve supply from the vagal nerves. These specific nerve fibres have their central origin in the dorsal nucleus of the vagus and are part of the autonomic nervous system. They appear to reach the oesophagus with its blood supply in an ordered but random manner. As the autonomic nervous system does not supply striated muscles, fibres of the vagal nerves that supply the proximal pouch must be somatic nerves. This is confirmed, as this portion of the oesophagus is shown to be supplied by the recurrent laryngeal nerves, which contain fibres that have their origin in the nucleus ambiguous. These nerves are bilateral and reach the oesophageal wall in a segmental fashion; this supply is continuous with that of the pharynx. As the oesophagus proximal to an atresia anatomically belongs to the pharynx, it is called the pharyngeal oesophagus. For a similar reason, the distal segment is named the gastric oesophagus. This anatomy is of practical importance to the surgeon.M. R. Q. Davies Division of Paediatric Surgery, University of the Witwatersrand, Medical School, Johannesburg, South Africa     

Initial management of suspected poisoning in children and young people

The child or young person with suspected poisoning is a relatively common emergency presentation in paediatrics. The toxic agent is frequently known, though on occasion a significant amount of detective work is required. Fortunately, poisoning causing significant harm is rare, but the possibility is ever present. The cornerstone of assessment and management is good medical and nursing care, combined with early recourse to specialist advice when the risk or presence of significant harm is identified. An overview of the approach to these clinical situations is outlined with practical examples provided to illustrate this for common poisons.     

A syndrome of multiple gastrointestinal atresias with intraluminal calcification

An infant with multiple gastrointestinal atresias from the stomach to the rectum is reported and the literature concerning this syndrome is reviewed. The syndrome has been reported, to date, exclusively in infants born to families with a French-Canadian background. The radiological hallmark of this syndrome is extensive calcification of intraluminal content between the areas of atresia which appears as rounded or oval homogeneous radiopacities on abdominal radiographs. Inheritance is thought to be autosomal recessive and the etiology is uncertain. All previously reported cases have died. The significance of biliary gas, seen in postoperative films, is discussed.