抗癫(痫)药物治疗的选择

目前抗癫(痫)药物种类较多,合理选择抗癫(痫)药物对于控制癫(痫)发作、避免或最大限度减少不良反应、提高患儿的生活质量非常重要.合理选药的主要依据包括癫(痫)的发作类型与综合征、各种抗癫(痫)药物的主要作用机制与不良反应特征、癫(痫)患儿机体功能情况及药物价格等因素.     

奥卡西平口服混悬液与托吡酯治疗癫(痫)的开放性研究

目的 评价奥卡西平口服混悬液单药治疗小儿癫(痫)的疗效和安全性.方法 对2008年5月至2009年8月以奥卡西平口服混悬液单药治疗的64例癫(痫)患儿与以托吡酯单药治疗的70例癫(痫)患儿进行开放性对照随访研究.结果 奥卡西平口服混悬液与托吡酯疗效相当,但不良反应明显降低,未发生过敏以及血液、肝、肾功能异常等严重不良反应.结论 奥卡西平口服混悬液在治疗部分性、部分性继发全身性、不能分类发作的癫(痫)患儿(包括＜ 4岁的癫(痫)患儿),疗效与托吡酯相当,不良反应少,且给药方便、剂量容易掌握,是一个适合于儿童单药治疗的抗癫(痫)药.     

癫(痫)治疗失败的原因

癫(痫)凫常见的神经系统慢性疾病,合理、规范的抗癫(痫)治疗可以使得绝大多数癫(痫)发作得到有效控制.癫(痫)治疗失败的原因主要涉及诊断不正确,抗癫(痫)治疗不规范,病因和诱发因素未去除,忽视社会、心理、经济因素对治疗依从性的影响及对抗癫(痫)药物耐受性等因素.现就常见癫(痫)治疗失败的原因进行分析,强调正确的诊断和尽早进行个体化的抗癫(痫)治疗是提高癫(痫)治疗成功率的关键.     

肾上腺皮质激素在儿科癫(痫)中的应用

肾上腺皮质激素在癫(痫)治疗中的应用已有70多年的历史,主要用于癫(痫)性脑病的治疗.肾上腺皮质激素已成为婴儿痉挛症和癫(痫)性失语的一线治疗.对于婴儿痉挛症多采用单药治疗,癫(痫)性失语则常与抗癫(疴)药物联合应用,但其确切的作用机制尚未完全阐明.在应用肾上腺皮质激素治疗儿童癫(痫)时,应特别注意其不良反应的发生并进行风险效益评估.     

耐药性癫(痫)的治疗进展

耐药性癫(痫)是全球癫(痫)治疗的难题,目前有20％ ～ 30％的癫(痫)患儿为耐药性癫(痫),可导致患儿心理行为、学习认知、社会交往障碍,严重影响患儿生活质量.耐药性癫(痫)发生机制复杂,尚未完全明确.耐药基因的表达、特殊的神经病理改变、特殊的癫(痫)综合征等指标有助于早期判断是否为耐药性癫(痫).近年来,随着新型抗癫(痫)药物的应用、癫(痫)外科手术的开展、迷走神经刺激术及生酮饮食等治疗为耐药性癫(痫)患儿提供了治疗的希望.     

多药耐药相关蛋白与难治性癫(癎)发病关系的研究进展

难治性癫(癎)的耐药机制尚不清楚.近年来研究认为与多药耐药相关蛋白关系密切,其耐药机制可能与多药耐药相关蛋白在癫(癎)脑组织中高表达有关,通过将药物从细胞内泵到细胞外,从而降低脑内的药物浓度而使之产生耐药性.多药耐药相关蛋白在调节癫(癎)患儿细胞内外抗癫(癎)药物浓度时发挥重要作用.其特异性抑制剂可能提高抗癫(癎)药在难治性癫(癎)中的作用,因此,对多药耐药相关蛋白的深入研究可能会为今后临床治疗难治性癫(癎)提供新方法及为新的抗癫(癎)药物的研究提供新的方向.     

ATP结合盒式蛋白在难治性癫(痫)耐药性机制的研究进展

难治性癫(痫)因其耐药机制的复杂性,迄今尚未清楚,目前探究其对抗癫(痫)药物的多重耐药性的一大热点是外流性药物转运蛋白.ATP结合盒式蛋白是外流性药物转运蛋白的代表,其中包括P糖蛋白、多药耐药蛋白、穹窿体主蛋白、乳腺癌耐药蛋白等,它们可以决定抗癫(痫)药物能否有效地作用于癫(痫)部位,而难治性癫(痫)患者对这些蛋白的高表达普遍存在,但是否与疾病耐药性相关仍需进一步探讨.该文从癫(痫)患者的ATP结合盒式蛋白高表达原因和蛋白对药物转运的作用机制方面对患者耐药性影响方面作一综述.     

生酮饮食的抗癫(痫)机制研究进展

生酮饮食用于癫(痫)治疗已达90年之久,引进我国也已10余年.生酮饮食临床疗效已得到一致认可,但其抗癫(痫)机制至今仍不明确.该文从离子通道、神经递质、神经保护、腺苷及mTOR通路、免疫因素的角度来阐述其可能的抗癫(痫)机制.     

儿童板层型灰质异位症伴癫(痫)发作三例并文献复习

目的 观察并探讨板层型灰质异位症伴癫(痫)发作儿童的临床表现、脑电图及影像学特点.方法 收集板层型灰质异位症的癫(痫)患儿病例资料3例,对其临床表现、影像学及脑电图特点进行回顾性分析,并电话随访其治疗及预后情况.结果 本研究中板层型灰质异位症患儿均为女性,均伴有反复癫(痫)发作,并伴有一定程度发育落后或学习困难;影像学均呈典型的“双皮质征”改变;其癫(痫)发作形式复杂,以全面发作或复杂部分性发作为主,可混合不典型失神发作或失张力发作,发作前有恐惧、腹痛等先兆,脑电图呈多灶性改变,以枕、顶、颞叶最显著;3例患儿均为联合用药治疗,脑电图改变及临床发作均有好转趋势.结论 对儿童期反复癫(痫)发作伴有一定智力缺陷的女性患儿需注意是否为板层型灰质异位症,磁共振发现“双皮质征”改变为确诊依据,其癫(痫)发作早期治疗可有较好的效果,抗癫(痫)治疗建议联合用药.     

左乙拉西坦治疗小儿癫(痫)100例疗效与安全性随访观察

目的 观察左乙拉西坦(LEV)单药或添加治疗不同类型小儿癫(痫)的临床疗效和安全性.方法 选取100例于山西省儿童医院小儿神经内科专科门诊2008年8月-2010年10月收治的应用LEV单药或添加治疗的癫(痫)患儿为研究对象,采用开放性自身对照随访研究方法.LEV给药起始剂量为10mg?kg-1 ?d-1,分2次口服,每周增加上述剂量1次,3～4周增加至目标剂量20～40 mg?kg-1?d-1,随访6 ～.24个月,以发作频率减少的百分率作为疗效判定标准,观察治疗前后发作频率变化、脑电图改变,并记录治疗过程中不良反应的发生情况,以评价其安全性.结果 入选癫(痫)患儿100例,失访4例.发作完全控制49例(占51.0％)；有效27例(占28.1％)；无效17例(占17.8％)；加重3例(占3.1％).总有效率为79.1％.脑电图明显改善者8例.14例(14.6％)患儿出现包括情绪异常,7例(7.3％)出现乏力,6例(6.3％)出现嗜睡,1例(1.0％)出现皮疹等不良反应.未发现严重过敏及血液系统抑制、肝肾功能异常等不良反应.2例因不良反应停药.结论 LEV治疗小儿各种类型癫(痫)具有良好的疗效和安全性,是一个值得推广的广谱抗癫(痫)药物.     

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.