婴儿良性癫癎38例临床跟踪随访观察

目的　观察婴儿良性癫临床发作 ,通过 6～ 15个月临床随访 ,探讨婴儿良性癫的诊断及治疗。方法　收集 2 0 0 2年 2月～ 2 0 0 3年 1月来我院神经专科门诊及病房就诊癫患儿临床资料 ,其中 38例符合婴儿良性癫诊断 ,年龄 3～ 2 4个月 ;男∶女为 17∶2 1,进行随访观察。结果　 2 7例单药治疗 ,其中 2例首次就诊未治疗 ,再发作后选择治疗 ;11例未治疗 ;2例服药 6个月后停药 ;均经 6～ 15个月随访 ,所有患儿临床发作停止 ,智能正常。结论　婴儿良性癫临床并不少见 ,预后好 ;对不愿治疗患儿应严密观察     

常用抗癫癎药物对小儿机体诱变作用

目的　通过检测外周血淋巴细胞姊妹染色体交换 (SCE)频率及血清叶酸 (FA)水平 ,研究抗癫药物 (AEDs)对机体的诱变作用及其对FA代谢的影响 ,寻求抗诱变作用的途径。方法　选择癫患儿 90例 ,依据应用AEDs不同分组 ,检测各组用药前后SCE频率及FA水平 ,以及补充FA后两指标变化。结果　服用卡马西平 (CBZ)和丙戊酸钠 (VPA)的癫患儿 ,服药后较服药前血清FA明显降低 ,SCE频率显著升高 ,而补充服用FA后两指标有明显改善。结论　CBZ、VPA对小儿机体具有诱变作用 ,但硝基安定无明显诱变作用。FA能够减轻AEDs对机体的诱变作用。     

癫癎患儿免疫功能的改变及抗癫癎药对免疫功能的影响

目的　探讨原发性癫患儿外周血单个核细胞 (PBMC)分泌细胞因子和血清可溶性白细胞介素 2受体 (sIL 2R)水平的改变 ,以及各种不同抗癫药对上述指标的影响。方法　 97例原发性癫患者随机分为未治疗组、服用丙戊酸钠 (VPA)治疗组、服用卡马西平 (CBZ)治疗组和服用苯巴比妥(PB)治疗组 ,采用ELISA法测定PBMC分泌细胞因子及血清可溶性白细胞介素 2受体 (sIL 2R)水平的变化。结果　癫患者未用药组和 3个用药组IL 6、TNF α、sIL 2R水平均明显高于正常对照组 ,全身性癫发作和部分性癫发作两组之间无明显差异 ,3个用药组与未用药组相比 ,IL 6、TNF α、sIL 2R水平亦无明显差异 ,而CBZ组IL 2水平显著升高。结论　癫患儿体内免疫功能异常 ,CBZ可能参与了癫的免疫过程     

年龄依赖性癫癎性脑病的治疗进展

年龄依赖性癫性脑病是 1976年由日本学者大田原俊辅提出 ,其包括大田原综合征 (早婴型癫性脑病伴爆发抑制 ,Ohtahara综合征 ,EIEE)、婴儿痉挛 (West综合征 )、Lennox -Gastaut综合征 (Lennox -Gastautsyndrome,LGS)。具有以下特点 :1.在特定的年龄阶段发病 ;2 .有特定类型的临床发作 ;3.持续性特异性样放电 ;4 .伴智力落后 ;5 .病程进展 ,随年龄增长可演变为另一型。多数治疗困难、预后不良。但抗癫新药的出现也为控制癫性脑病提供更多的治疗选择。本文将对年龄依赖性癫性脑病的治疗进展做一综述。　　一、Lennox -Gastau…     

儿童癫癎影像学检查的意义

目的　为阐述影像学检查对病因诊断和癫分类意义 ,并就癫患儿影像学检查提出合理建议。方法　将 318例初次被诊断癫并接受神经影像学检查 (包括CT和MRI)患儿 ,根据影像学检查结果 ,分为正常组和异常组。结果　影像学异常表现多样 ;影像学检查结果阳性组平均发病年龄小 ,肌阵挛性发作多 ,且多伴发育迟缓、脑性瘫痪 ,有显著性差异 (P <0 .0 5 ) ;所有失神癫患儿影像学检查均为阴性。结论　影像学检查在癫病因方面有重要临床意义 ,但对儿童失神癫患儿可不必行影像学检查     

儿童非癫性发作事件45例

凡临床表现为突然而反复发作、发作间歇期能完全恢复正常者 ,均可称为阵发性或发作性事件。但并非所有癫均为发作性事件 ,癫以外者可称为非癫发作事件[1] 。现将1995～ 2 0 0 2年来我院门诊就治的 4 5例儿童非癫性发作报告如下。临床资料一、一般资料　 4 5例均为门诊诊断为发作事件的儿童 ,男 2 9例 ,女 16例 ;年龄 1个月～ 9岁 ,平均 3岁 4个月。其中生理性发作 2 1例 ;功能性发作 13例 ;心因性发作 11例。4 5例中生后有轻度窒息史 10例 ;高热惊厥史者 6例 ;头部外伤史者 4例。全部患儿发育均正常。二、方法　全部患儿均进行详细…     

卡马西平致非癫痫性肌阵挛和部分性癫痫加重

该文报道1例卡马西平(CBZ)引起复杂性部分癫痫伴有局灶性脑电图(EEG)异常。病例男性,6个月时出现全身性强直一阵挛性癫痫发作(GTC),每周2～3次。足月顺产,个人史,过去史均无特殊。神经系统、实验室、头颅 CT、EEG、脑脊液检查均正常。服鲁米那(PB)后血清浓度≤30mg/L 仍有发作。8个月时 EEG 示左枕叶棘波,停 PB 改用丙戊酸钠(VPA),尽管血清浓度达100～120mg/L,仍未能控制发作。14个月时言语发育延迟,全身体检及神经系统检查正常,磁共振成像及代     

外伤性癫癎患儿脑电图及临床随访分析

目的　探讨小儿外伤性癫的脑电图及临床特征。方法　对我院治疗 15 6例患儿 ,行脑电图及临床追踪观察 ,并做回顾性分析。结果　男童发病率较高 (10 2∶5 4 )。婴幼儿及学龄前儿童发病率较高 (10 2∶5 4 )。脑电图样放电检出率较高。年龄越小 ,早期癫的发病率越高。 15 1例临床发作完全控制 ,余 5例发作次数明显减少。脑电图样放电消失较临床发作控制滞后 6个月～ 2年。结论　脑电图检查对本病的诊断、鉴别诊断和指导治疗有重要意义     

常用抗癫疒间药在儿科的毒副反应观察

对象:1998年1月至2003年10月在我院神经专科就诊,诊断为癫疒间及癫疒间综合征或复杂性高热惊厥,愿意治疗并接受随访者共计364例。首诊年龄为1个月至14岁,中位年龄4.47岁,男213例,女151例,随访时间为6～48个月,中位随访时间为19.72个月。诊断根据1983年自贡会议提出的诊断标准和1989年国际癫疒间协会提出的癫疒间和癫疒间综合征(修正)草案。方法:根据发作类型选用苯巴比妥钠(Pb)、丙戊酸钠(VPA)、卡马西平(CBZ)、妥泰(TPM)、苯妥英钠(PHT)等,从小剂量开始,逐渐增加剂量到发作控制改维持剂量,根据所用药物不同分为单药组(236例)和多药联…     

儿童非癫癎性发作的鉴别诊断

非癫性发作 (nonepilepticseizures,NES)又称为非癫发作性疾病 ,或称为非癫发作事件 ,是指多种原因引起的一大类阵发性临床发作 ,不伴与发作同步的发作期脑电图性放电 ,为类似性发作的脑功能障碍性疾病。NES是常见临床问题 ,在成人和儿童都可发生 ,NES较癫发作更常见。儿童NES约占儿童人群 10 %。NES中有一些是疾病状态 ,另一些则属于正常生理现象。在国外癫中心就诊患儿中 ,18%～ 2 3%患儿被证实为NES ,5 %～ 2 0 %NES被误诊为难治性癫[1] 。儿童非癫性发作必须与癫发作予以鉴别 ,而不同非癫性发作之间也需…     

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.