非血缘脐血干细胞移植治疗恶性婴儿型石骨症1例报道

恶性婴儿型石骨症（osteopetrosis，OP）是一种因破骨细胞功能障碍导致成骨发育障碍性疾病，表现为骨质硬脆，易骨折。随着病情进展，颅骨骨质重造异常，颅神经受压可致听力和视觉下降，甚至出现脑积水，多在早期夭折。异基因造血干细胞移植是唯一治疗此病的措施。我们于2006年1月为1例OP患儿进行了非血缘脐血干细胞移植（CBT）治疗，     

室性早搏的心电图变化及临床意义

室性早搏(简称室早)是常见心律失常的一种类型,如何确定室早的临床意义是临床上常遇到的问题,尤其是患者在无任何自觉症状,而室早是唯一的主诉,在这种情况下更应及时确定室早的性     

益生元与婴儿肠道健康

众多研究证实接受母乳喂养婴儿的肠道菌群以双歧杆菌占绝埘优势,而这种优势不能通过牛乳或其他哺乳动物的乳汁喂养获得.这种人类独特的优势,取决于母乳喂养过程营造的肠道厌氧环境,更取决于人乳中促进双歧杆菌增殖的低聚精.人乳低聚糖可在维持肠道舒适的同时,建立肠道微生态平衡,提高肠道自然屏障和防御功能,并可促进营养素的吸收.良好的肠道环境,有利于婴儿肠道正常的消化和吸收、分泌及免疫功能的建立,更有利于婴儿口后的生长和神经系统发育,并可降低免疫相关性等非传染性疾病的发生.对于不能接受纯母乳喂养的婴儿,通过接受含有模拟人乳低聚糖的益生元的婴儿配方奶粉,也可改变肠道菌群的组成和活性,同样可利于宿主的舒适和健康.     

婴儿肉毒中毒

通常认为,肉毒中毒是误食肉毒毒素后引起的疾病,而这种毒素往往由污染的肉毒梭菌于适宜条件下,在食品中产生的,即这种疾病的媒介是食品。尽管在发病机理上长期存在分歧,但经典的定义仍然是,肉毒中毒属食物中毒性疾病,是单纯的中毒,而非传染病。由于婴儿太小,多数靠母乳、牛奶或代乳品喂养,接触其它食品的机会不多,一般认为不会患肉毒中毒。据报道,美国加利福尼亚州77年(1899～1976)来600例肉毒中毒患     

儿童Rathke囊肿的临床特点分析

Rathke囊肿(Rathke cleft cyst)是一种垂体非腺瘤性良性病变,起源于胚胎颅咽管的残余上皮细胞。大部分Rathke囊肿是无症状的,有症状的Rathke囊肿一般有三大临床表现,即内分泌功能紊乱、头痛、视觉障碍[1]。以往儿童Rathke囊肿很少诊断,但随     

Kasai手术与肝移植治疗胆道闭锁的利弊思考

胆道闭锁是婴儿期严重肝胆疾病之一,手术是挽救生命的唯一方法 ,目前遵循Kasai手术-肝移植序贯治疗的手术方式,但随着儿童肝移植技术的发展,BA患者肝移植后的疗效得到了明显改善,学者们重新思考Kasai手术在胆道闭锁治疗中的作用.本文对两种手术方式的发展、结果 、利弊等进行对比总结,分析肝移植时代Kasai手术的价值.     

特发性颅内压增高症20例

目的探讨特发性颅内压增高症（IIH）的临床特点及治疗措施。方法回顾性分析20例IIH患儿临床资料，对其病因、临床表现、实验室、影像学检查及治疗转归情况进行分析。结果IIH患儿20例最常见的症状和体征分别是前囟隆起、头痛、呕吐、视乳头水肿，经降颅压治疗大部分预后良好。视力减退是唯一严重的并发症。结论儿童IIH的临床表现形式多样，视觉丧失常隐匿发生，应提高对该病的认识，以免漏诊、误诊。     

非麻醉性镇痛剂在儿科的临床应用

非麻醉性镇痛剂在儿科的临床应用武汉市儿童医院（４３００１６）董宗祈镇痛药，是指能够选择性地消除疼痛，并消除因疼痛引起的情绪反应如紧张、不安等，而不影响清醒和其他感觉如触觉、听觉、视觉、嗅觉等的一类药物。其中大部分属强效镇痛药，适用于剧烈疼痛。麻醉性镇...     

语言相关的发育性疾病早期语言特征分析北大核心CSCD

目的探讨发育水平相当的孤独症谱系障碍(ASD)、全面发育迟缓(GDD)、发育性语言障碍(DLD)儿童的语言特征,为疾病早期识别提供依据。方法回顾性分析2018年1月至2020年1月于重庆医科大学附属儿童医院就诊的719例儿童病例资料,其中ASD 382例,DLD 198例,GDD 139例。采用χ^(2)检验比较3组儿童的发育水平分布的差异,方差分析比较3组儿童的发育情况,采用相关性分析语言和非语言发育水平的相关关系,控制发育水平后,采用t检验比较ASD和GDD、ASD和DLD儿童的语言能力及儿童的表达性与接受性、视觉相关性语言水平的差异。结果ASD、GDD、DLD儿童非语言发育水平差异有统计学意义(χ^(2)=414.64,P<0.01)。语言同非语言发育水平呈正相关(r=0.60,P<0.05)。发育水平异常的ASD,接受性、视觉相关性语言分数均差于其表达性语言(t=6.97、3.58、13.29、6.85、9.09、7.27,均P<0.01);发育正常的DLD,表达性语言最差(t=-2.21、-3.61,均P<0.05);GDD发育轻度落后组,接受性语言最差(t=4.12、-4.24,均P<0.01),发育中度及以上落后组,视觉相关性和接受性语言更差(t=2.46、2.68,均P<0.05)。发育正常的ASD和DLD及发育中度及以上落后的ASD和GDD,在表达性、接受性、视觉相关差异均无统计学意义(均P>0.05);发育边缘的ASD与DLD相比,ASD的接受性、视觉相关性更差(t=-4.64、-4.60,均P<0.01),表达性差异无统计学意义(P>0.05);发育轻度落后的ASD与GDD相比,ASD的接受性、视觉相关性更差(t=-4.11、-4.68,均P<0.01),表达性差异无统计学意义(P>0.05)。结论在儿童早期,发育异常的ASD儿童以接受性和视觉相关性语言落后为主要表现,发育正常的DLD表达性语言落后明显,GDD语言能力全面落后,以接受性为著;在发育边缘及轻度异常时,接受性、视觉相关语言的显著落后对诊断ASD有参考价值,在发育水平较好或过低情况下,ASD、DLD、GDD语言发育落后情况相似。     

nNOS在先天性肾盂输尿管连接处狭窄表达的研究

先天性肾盂输尿管连接处狭窄(UPJO)是小儿肾积水最常见的原因，约占85％～90％以上。目前，对它的病因及发病机制尚未完全明确。但现代研究显示输尿管有丰富的非胆碱能非肾上腺能神经(NANC)，其中一氧化氮能神经约占45％～50％。作为一氧化氮(NO)合成的唯一的酶——神经型一氧化氮合酶(nNOS)，其数量的多少、活性     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

Overcoming surfactant inhibition with polymers

Inhibition of the function of pulmonary surfactant in the alveolar space is an important element of the pathophysiology of many lung diseases, including meconium aspiration syndrome, pneumonia and acute respiratory distress syndrome. The known mechanisms by which surfactant dysfunction occurs are (a) competitive inhibition of phospholipid entry into the surface monolayer (e.g. by plasma proteins), and (b) infiltration and destabilization of the surface film by extraneous lipids (e.g. meconium-derived free fatty acids). Recent data suggest that addition of non-ionic polymers such as dextran and polyethylene glycol to surfactant mixtures may significantly improve resistance to inhibition. Polymers have been found to neutralize the effects of several different inhibitors, and can produce near-complete restoration of surfactant function. The anti-inhibitory properties of polymers, and their possible role as an adjunct to surfactant therapy, deserve further exploration.     

Understanding infant formula

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 healthcare professionals) will experiment with the infant formula available and then 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.