39例儿童头颈部横纹肌肉瘤临床特点及治疗转归

目的：探讨儿童头颈部横纹肌肉瘤的（RMS）临床特点及治疗转归。方法：回顾性分析北京同仁医院2004年11月至2010年11月收治的39例原发于头颈部的RMS患儿临床资料及治疗随访结果,其中男23例,女16例,年龄3个月至14岁,中位年龄6.0岁。结果：39例患儿临床主要表现为眼球突出及眼睑肿胀(56%,22/39),鼻塞及鼻出血占28%（11/39）,面颊包块占15%（6/39）。39例患儿中,原发部位以眼睑及眼眶为主（56%,22/39）,其次为鼻咽部及筛窦（28%,11/39）。37例有明确病理分型,大多数患儿为胚胎型（89%,33/37）。39例患儿中位随访时间为38个月(10~80个月),放弃治疗4例,获随访35例。35例患儿中,行单纯手术4例,单纯化疗1例, 手术+化疗12例,手术+放疗2 例,手术+化疗+放疗13例(其中8例行125I放射性粒子植入术治疗),手术+化疗+放疗+自体外周血造血干细胞移植（APBSCT）2例,化疗+APBSCT 1例。其中7例复发,5例死亡,总生存率86%（30/35）,完全缓解率达66%（23/35）,部分缓解率达20%（7/35）,8例粒子植入术治疗患儿6例达无瘤生存。结论：RMS患儿临床表现主要为眼球突出及眼睑肿胀;眼部及鼻咽是儿童头颈部RMS多发部位;病理分型以胚胎型为主;包括化疗、手术、125I粒子组织间植入及APBSCT等多种综合治疗方法可有效提高RMS患儿缓解率。     

125I粒子植入术在儿童头颈部横纹肌肉瘤的临床应用

目的：评价125I粒子植入术对儿童头颈部横纹肌肉瘤（RMS）的疗效及副作用。方法：以8例(男4例,女4例）头颈部RMS患儿的原发病灶为目标靶区植入125I放射性粒子,其中原发部位为眼睑及眼2例,眼眶4例,鼻腔及鼻翼2例。观察125I粒子植入术对病灶治疗的有效性及副作用。结果：8例患儿平均随访时间为45±17个月,中位随访时间为43个月,病情达到完全缓解5例,部分缓解2例,死亡1例,总生存率为88%（7/8）。植入术后8例（100%）患儿均出现局部色素沉着,其中1例出现角膜混浊,1例出现眼球胀痛,1例出现视力模糊加重,1例出现视力丧失,1例出现鼻腔黏膜破溃出血。除1例角膜混浊及1例视力丧失外,余6例相关副作用经过治疗均好转。结论：125I放射性粒子植入术治疗儿童头颈部RMS治疗价值肯定,虽存在局部副作用,但经对症治疗可缓解。     

横纹肌肉瘤42例综合治疗及疗效评估

目的分析儿童横纹肌肉瘤(RMS)的临床资料及疗效评估。方法回顾性分析本院儿科病房2005年8月-2010年11月收治的42例RMS患儿的临床资料。男24例,女18例;中位数年龄6岁。对其肿瘤原发部位、临床分期、病理分型、治疗方法及效果进行统计分析,尤其是125I放射性粒子组织间植入术及自体外周血造血干细胞移植(auto-PBSCT)治疗对RMS的疗效。结果1.首发症状:临床表现主要为眼球突出及眼睑肿胀占52.38%(22/42例),鼻塞及鼻出血占26.19%(11/42例),跛行、关节肿痛占4.76%(2/42例),面颊及腹部包块占16.67%(7/42例)。2.原发于头颈部39例,原发于四肢2例,原发于腹部1例。37例头颈部有明确病理分型:胚胎型占89.18%(33/37例),腺胞型占5.42%(2/37例),多形型和混合型各占2.70%(均为1/37例);腹部及四肢原发RMS其病理分型为胚胎型占66.67%(2/3例),腺胞型占33.33%(1/3例)。经统计学分析,不同原发部位的病理分型差异有统计学意义(P<0.01)。3.Ⅲ期原发于头颈部3例患儿进行auto-PBSCT,至2011年10月术后分别随访26、30及35个月,2例患儿获完全缓解,1例患儿术后6个月复发,复发后1 a死亡。4.头颈部8例患儿行125I放射性粒子组织间植入,随访至2011年10月,随访时间为(45.00±17.43)个月,中位随访时间为43个月,病情达到完全缓解5例,部分缓解2例,死亡1例,总生存率为87.5%(7/8例)。5.全部患儿随访至2011年10月,中位随访时间38个月(10～80个月),放弃治疗4例,获随访38例。7例复发,5例因脑转移死亡,总生存率达86.84%(33/38例),完全缓解率达86.42%(26/38例),带瘤生存率达21.21%(7/33例)。结论头颈部是儿童横纹肌肉瘤多发部位,病理分型以胚胎型为主。包括125I放射性粒子组织间植入及auto-PBSCT等多种综合治疗方法对于提高肿瘤缓解率具有一定的临床意义。     

儿童晚期肝母细胞瘤综合治疗的疗效观察

目的 总结晚期肝母细胞瘤(HB)患儿的临床治疗结果,探讨晚期HB的临床疗效及诊疗经验.方法 回顾性分析2006年4月至2012年8月北京同仁医院儿科收治的40例经病理确诊及分期明确的晚期HB患儿(男29例,女11例;发病年龄3个月～11岁6个月,中位年龄1.9岁)的病例资料,根据美国儿童肿瘤组织肝母细胞瘤国际分期分为Ⅲ期15例,Ⅳ期25例,采用多科室协作模式进行治疗.结果 随访至2012年8月,中位随访时间为21个月(1 ～ 67个月),失访1例,余39例患儿获随访,死亡12例(其中1例为进展期放弃治疗死亡,1例化疗中合并脏器衰竭死亡),完全缓解及部分缓解共27例(其中1例为进展期放弃治疗至随访日仍存活),总生存率为69.2％(27/39例).结论 晚期HB儿童一旦伴有远处组织器官转移预后较差,但综合治疗仍可延长患儿生存期及提高临床缓解率.     

高危头颈部横纹肌肉瘤临床特征及预后分析

目的研究高危头颈部横纹肌肉瘤(RMS)的高危因素与诊疗及预后的相关性。方法根据美国儿童肿瘤组织(COG)、中国抗癌协会小儿血液肿瘤学组儿童横纹肌肉瘤协作组(CCCG-RMS)制定的危险度分组,筛选原发于头颈部的高危儿童横纹肌肉瘤为研究对象。采用穿刺病理/手术+化疗+放疗等综合治疗,分析原发部位、年龄、病理分型、转移等因素与诊疗策略、预后的相关性。结果入组患儿29例。其中男17例(58.6%),女12例(41.4%);原发部位:眼眶区占位7例(24.1%),脑膜旁占位22例(75.9%);临床分期:Ⅲ期2例(6.9%),Ⅳ期27例(93.1%)。随访至2018年12月31日,死亡14例,存活15例,无病生存10例,总生存率为48.3%(15/29例),无病生存率为34.5%(10/29例)。Kaplan-Merier曲线分析提示总生存时间(76.0±12.0)个月,95%可信区间(CI):53.5~93.2个月;无事件生存时间(62.5±10.6)个月,95%CI:47.0~83.9个月。结论高危组头颈部RMS患儿预后相对较差,中枢神经侵犯是重要的致死因素,密切随访及防治中枢神经系统侵犯是提高RMS预后的主要任务。     

单中心婴儿横纹肌肉瘤的临床特征及预后分析北大核心CSCD

目的总结分析婴儿横纹肌肉瘤(RMS)患儿的临床特征及预后,进一步提高对婴儿RMS的认识。方法选择2006年5月至2019年6月在首都医科大学附属北京儿童医院肿瘤内科诊治的所有年龄<12个月RMS患儿,回顾性分析初诊时患儿年龄、瘤灶部位及大小、病理分型、临床分期分组等临床特征。随访时间截至2019年12月31日。采用Kaplan-Meier生存分析法分析患儿3年无事件生存(EFS)率。结果共入组RMS患儿15例,占同期RMS患儿的4.9%,其中男6例,女9例;中位诊断年龄7.0个月(3.0~11.5个月)。原发瘤灶以头颈部最常见[40.0%(6例)],其次为四肢[26.7%(4例)]和其他部位[26.7%(4例)],泌尿生殖系统为6.7%(1例)。胚胎型RMS占46.6%(7例),腺泡型RMS 26.7%(4例),梭形细胞型RMS 26.7%(4例)。美国横纹肌肉瘤研究组(IRS)-Ⅲ期10例(66.7%),Ⅳ期1例(6.7%)。中危组10例(66.6%),低危组4例(26.7%),高危组1例(6.7%)。2例患儿原发瘤灶>5 cm,3例患儿明确淋巴结受累,1例患儿在诊断时发生肺转移。患儿均进行化疗,13例化疗前手术;1例化疗后手术;1例未手术。仅3例患儿进行放疗:1例患儿行粒子植入;2例行外放疗。15例婴儿RMS患儿中5例出现复发或进展[3年EFS率为(59.1±14.5)%],2例死亡[3年总生存率为(80.8±12.6)%]。结论单中心婴儿期RMS患儿中位诊断年龄为7个月,以头颈部为常见,近半数患儿原发瘤灶部位为预后不良部位,病理亚型中超过1/4为梭形细胞型。局部治疗欠缺可能是导致局部进展或复发的主要因素。     

儿童头颈部非霍奇金淋巴瘤21例临床分析

目的分析儿童头颈部非霍奇金淋巴瘤（NHL）的临床资料,探讨儿童的发病特点、诊断、治疗及预后。方法回顾性分析2005年5月-2013年5月我院儿科收治的21例经病理确诊的NHL患儿临床资料。男13例,女8例,中位年龄72个月。分析临床发病特点、疗效及预后。结果（1）原发部位：头颈部结外淋巴组织19例,占90％,其中咽淋巴环及眼眶内各8例,分别占38％;原发于咽淋巴环8例患儿中,鼻咽部4例,扁桃体1例,会厌1例,咽旁间隙1例,上颚1例。（2）临床分期：Ⅱ期7例（33％）,Ⅲ期6例（29％）,Ⅳ期8例（38％）。（3）疗效及预后：21例患儿中19例规律治疗并获随访。中位化疗疗程11个疗程,首次治疗后化疗有效率95％,无效率5％。3年总生存率和无进展生存率分别是90％和80％。结论儿童头颈部NHL对化疗敏感,即使晚期行综合治疗仍具有较高的临床缓解率及生存期,但应注意起病特点增加确诊率。     

信息动态

横纹肌肉瘤(Rhabdomyosarcoma,RMS)是儿童期最常见的软组织肿瘤,占儿童恶性肿瘤的4.5％ ～ 8％(占北京儿童医院统计的2705例儿童肿瘤中的6.5％) [1-3].临床表现多样,异质性强,预后与肿瘤原发部位、大小、压迫及侵犯周围组织、器官程度及病理类型有关.RMS原发部位以头颈部多发,其次为躯干、四肢及泌尿生殖系统.其病理诊断复杂,存在许多随机或非随机染色体片段获得、扩增或缺失等畸变.RMS对化疗、放疗敏感,但单一治疗效果差,需要肿瘤内、外、放疗等多学科联合的综合治疗和长期随访.化疗及管理是肿瘤内科的主要任务.     

儿童肝母细胞瘤综合治疗27例疗效探讨

目的 总结我院治疗儿童肝母细胞瘤的经验.方法 回顾性分析2000年6月至2007年1月经病理证实的27例肝母细胞瘤患儿的临床及随访资料.结果 本组按国际儿童肿瘤协会(SIOP) PRETEXT分期:Ⅰ期3例,Ⅱ期10例,Ⅲ期1 1例,Ⅳ期3例.本组采用手术联合化疗的综合治疗措施,其中Ⅰ期手术3例,Ⅱ期手术24例.治疗后获得完全缓解22例,获得部分缓解2例,疾病进展2例,于术后化疗中死亡1例.至随访结束,20例无病生存,4例死于肿瘤复发,2例死于进展.27例的5年生存率为74.1％.结论 联合术前化疗后肿瘤可完全切除的肝母细胞瘤患儿可长期生存,而化疗后手术仍无法切除或治疗后复发的患儿的预后较差.     

儿童晚期肝母细胞瘤伴肺转移综合诊疗分析:附12例报告

目的总结晚期儿童肝母细胞瘤伴肺转移的诊疗经验。方法收集2006年4月—2012年1月收治的12例经病理确诊及分期明确的晚期肝母细胞瘤伴有肺部转移患儿的临床资料,其中男7例、女5例。分析经化疗、介入治疗、手术治疗及自体外周血干细胞移植治疗的临床疗效及随访结果。结果至2012年2月,12例患儿完全缓解3例,部分缓解4例,死亡4例,进展1例,缓解率达到58.3%(7/12),其中10例患儿随访时间超过12个月(12～66月),95%平均生存可信区间是35.3～66.8月,5年生存率估计值为30.41%。结论肺是肝母细胞瘤最常见的转移部位,起病隐匿,预后较差,应注意早期、综合、规律治疗以提高生存率。     

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.     

How well are we doing? – Metabolic control in patients with diabetes

OBJECTIVE: To compare the present level of metabolic control in children and adolescents with insulin-dependent diabetes mellitus (IDDM) attending Brisbane paediatric diabetes clinics with published overseas data. METHODOLOGY: Blood HbA1c concentrations, population characteristics, current treatment practices and short-term complications were recorded in all patients, aged 19 years and under, attending the diabetes clinics of the two Brisbane Children's Hospitals or the private practice of one of the authors (MJT) in the first quarter of 1998. RESULTS: Two hundred and sixty-eight patients were assessed (M/F 142/126). Ages ranged from 1 to 19 years (mean 11. 2 years); duration of IDDM was 0-16 years (mean 4.4 years); and 141 (53%) were pubertal. Of those aged less than 13 years, only 4% had more than two injections daily. Insulin doses (U/kg/day) rose with increasing age. Larger doses were required in regimens involving more than two injections per day than those involving one to two injections per day. Ketoacidosis or severe hypoglycaemia in the last 3 months were reported in eight (2.7%) and 17 (6.3%) of patients, respectively. Mean HbA1c (+/- SD) was 8.6 +/- 1.4% (range 5.2-14.0%), with 33% of children having a HbA1c concentration < 8%. HbA1c concentrations were significantly related (P < 0.05) to insulin dose and to duration of diabetes, but not to severe hypoglycaemia, ketoacidosis, age, frequency of injections, or number of clinic visits per year. Mean HbA1c concentration was significantly higher (P < 0.05) in those children in puberty (8.7 +/- 1.5%) than in those not in puberty (8.5 +/- 1.2%). CONCLUSION: Only 33% of patients had a HbA1C concentration less than 8% and 6.3% had a severe hypoglycaemic episode in the 3 months. These results are similar to published overseas data.