去铁酮治疗高量输血的重型β-地中海贫血患儿临床观察

目的 观察口服去铁酮治疗高量输血的重型β-地中海贫血的安全性及有效性.方法 高量输血治疗重型地中海贫血患儿60例,予口服去铁酮去铁治疗,同时监测血常规、血清铁蛋白、肝功能,观察有无腹痛、呕吐、关节肿胀和疼痛等不良反应.结果 口服去铁酮治疗＞ 1年患儿56例,2 ～ 3年患儿28例,＞ 3年患儿12例,失访患儿7例.显示治疗＞ 1年患儿血清铁蛋白未见增高;治疗＞ 2年患儿血清铁蛋白下降,肝功能未见明显异常,粒细胞维持在正常水平,胃肠道和关节症状发生率低,患儿依从性好.结论 口服去铁酮治疗重型β-地中海贫血方法简单,患儿依从性好,效果好,不良反应少.     

治疗同胞脐血移植术后免疫性血小板减少性紫癜的体会(附一例报告)

我院于2004年4月接受一例β-地中海贫血(重型)患儿,HLA 2个位点不合的同胞脐血移植,术后5个月发生临床较为少见的自身免疫性血小板减少性紫癜,现报告如下,并做文献复习。1病例资料男性患儿,生后5个月时因进行性面色苍黄而就诊,经血红蛋白电泳及β地贫基因分析等检查确诊为重型β地中海贫血(41-42/654),此后一直接受定期输注红细胞悬液纠正贫血及铁螯合剂去铁胺减轻体内铁负荷的常规治疗。2003年患儿母亲再次怀孕,并于妊娠20周时在我院行产前诊断示胎儿为正常胎儿,HLA配型4/6与患儿相合;母亲足月分娩时留取脐血冷冻保存于脐血库。患儿1·9…     

重型β地中海贫血肝铁负荷与铁蛋白和影像学检查的临床研究

目的探讨重型β地中海贫血肝铁负荷与血清铁蛋白和股骨头红骨髓影像学面积的相关性,旨在寻求一个无创和便于动态评估机体铁负荷的方法,为正确指导去铁治疗和造血干细胞移植寻求新途径。方法对1999—2005年的65例长期在中山大学附二医院输血治疗并追踪观察的重型β地中海贫血患儿病例进行回顾性分析。比较65例重型β地中海贫血患儿肝纤维化程度、含铁血黄素沉积分级在年龄、性别上的差异,以及与股骨头近端红骨髓影像学面积和铁蛋白间的相关性。结果中国广东地区重型β地中海贫血患儿铁蛋白随肝纤维化程度递增,各纤维化程度在年龄和性别上差异无显著性。股骨头红骨髓影像学面积与肝纤维化程度相关系数为0.70,P<0.05。结论广东地区重型β地中海贫血发展为肝纤维化的平均年限为6.7年;股骨头红骨髓影像学面积可作为动态、准确和无创评估铁负荷的新方法。     

再生障碍性贫血患儿输血相关性铁过载及祛铁治疗临床研究

目的 探讨依赖输血的再生障碍性贫血(aplastic anemia,AA)铁过载临床表现及祛铁治疗的疗效作用及安全性. 方法 回顾性分析AA患儿56例,检测长期依赖输血后铁代谢指标(血清铁、血清铁蛋白、血清转铁蛋白)状况,并观察采用铁螯合剂去铁治疗前后血象、输血频次及脏器功能的变化.结果 依赖输血AA患儿铁代谢指标均显著升高,说明长期输血导致铁代谢紊乱,出现铁超负荷,铁过载患儿应用去铁胺治疗后,血清铁蛋白量明显减少(P<0.01),血红蛋白量显著提高(P<0.05),红细胞输注频率(U/30d)明显降低(P<0.01),并且不良反应较少.结论 AA长期输血患者应充分考虑其体内铁代谢状况,长期输血会导致输血性铁过载,而铁螯合剂去铁胺治疗输血性铁过载再生障碍性贫血有效安全,值得临床推广.     

三亚市儿童地中海贫血筛查及基因分析

目的调查三亚市儿童地中海贫血的发病率和基因突变类型。方法对938例儿童进行血常规、CRP检测和血红蛋白电泳试验,筛查地中海贫血发生情况及其所属类型;对α-地中海贫血患儿用gap-PCR法、β-地中海贫血患儿用PCR-RDB法进行基因诊断。结果地中海贫血筛查阳性率为13.65%(128/938),基因诊断阳性率为11.41%(107/938)。在107例经基因诊断确诊为地中海贫血的患儿中,α-地中海贫血59例,β-地中海贫血46例,α合并β地中海贫血2例。59例α-地中海贫血患儿中,-SEA/αα型31例,-α4.2/αα型13例,Hb H病为6例;46例β-地中海贫血患儿中共检出6个基因位点发生突变,突变频率依次为CD41-42(-CTTT)21例,TATAbox-28(A→G)13例,CDs14/15(+G)5例,IVS-Int 654(C→T)4例,CD17(A→T)2例,27-28(+C)1例。结论三亚市儿童地中海贫血发病率较高,开展遗传咨询、婚前检查及产前诊断等对优生优育十分必要。     

不同铁螯合剂治疗重型β地中海贫血铁过载的临床研究

目的 比较去铁胺(DFO)、去铁酮(DFP)、地拉罗司(DFX)三种不同铁螯合剂治疗重型β地中海贫血(β-TM)铁过载患者5年的临床疗效.方法 随机选择规律输血的β3-TM铁过载患者31人,按DFO、DFP和DFX分为三个治疗组,分别对血清铁蛋白(SF)、心脏MRIT2*、肝脏MRIT2*值变化进行分析.结果 服药5年后,三组SF均明显降低、心脏MRIT2*、肝脏MRIT2*明显升高(P＜0.05);组间比较,三组SF水平5年连续监测差异无显著性(P＞0.05);心脏MRIT2*组间比较差异无显著性(P＞0.05),但与基线相比,第2年DFP组心脏MRIT2*值上升幅度明显高于DFX组、DFO组(P＜0.05),后3年差异无显著性;5年连续监测肝脏MRIT2* DFO组高于DFP组、DFX组(P＜0.05),与基线相比,DFO组第2年肝脏MRIT2*值上升幅度明显高于DFP组、DFX组(P＜0.05),后3年差异无显著性.结论 三种铁螯合剂均能有效降低重型β-TM患者SF浓度、去除心脏和肝脏铁沉积;短期内DFP降低心脏铁负荷优于DFO及DFX,DFO降低肝脏铁负荷优于DFP及DFX.     

不同铁鳌合剂治疗重型β地中海贫血铁过载的临床研究

目的比较去铁胺(DFO)、去铁酮(DFP)、地拉罗司(DFX)三种不同铁螯合剂治疗重型β地中海贫血(β-TM)铁过载患者5年的临床疗效。方法随机选择规律输血的β-TM铁过载患者31人,按DFO、DFP和DFX分为三个治疗组,分别对血清铁蛋白(SF)、心脏MRIT2*、肝脏MRIT2*值变化进行分析。结果服药5年后,三组SF均明显降低、心脏MRIT2*、肝脏MRIT2*明显升高(P0.05);组间比较,三组SF水平5年连续监测差异无显著性(P0.05);心脏MRIT2*组间比较差异无显著性(P0.05),但与基线相比,第2年DFP组心脏MRIT2*值上升幅度明显高于DFX组、DFO组(P0.05),后3年差异无显著性;5年连续监测肝脏MRIT2*DFO组高于DFP组、DFX组(P0.05),与基线相比,DFO组第2年肝脏MRIT2*值上升幅度明显高于DFP组、DFX组(P0.05),后3年差异无显著性。结论三种铁螯合剂均能有效降低重型β-TM患者SF浓度、去除心脏和肝脏铁沉积;短期内DFP降低心脏铁负荷优于DFO及DFX,DFO降低肝脏铁负荷优于DFP及DFX。     

β地中海贫血儿童铁螯合剂应用价值

输血依赖性β地中海贫血患儿,体内大量铁积聚导致肝脏功能、心脏功能及内分泌器官功能异常。铁积累来源于反复输血和胃肠道吸收增加。作者用去铁敏对病人进行了前瞻性治疗研究。临床资料作者选择16例3岁～17岁以前未用去铁敏治疗的β地中海贫血患儿作研究对象。每个病儿均作体格发育检查(身高、体重、肝脾大小等)、辅助检查(全血细胞计数、血清铁蛋白、血清铁、铁结合力、丙氨酸转移酶、空腹血糖、凝血酶原时间、24小时尿铁排泄量、胸部摄片、心电图、M型超声、肝活检等)。治疗原则:每日1 g去铁敏,连续1周,然后根据情况每周加1次量直至维持量。除有明显心脏疾病者外,均每日口服维生素C 100mg。并主张低铁饮食和饮茶,以减少铁吸收。治疗期间的每次     

重型β-地中海贫血患儿心率变异性的分析

目的：该研究通过对重型β-地中海贫血（β-TM）患儿心率变异性（HRV）的变化特点的研究,探讨HRV对β-TM患儿心功能异常的诊断价值。方法：对21例β-TM患儿（地贫组）和15例正常儿童（对照组）分别进行24 h动态心电图（Holter）检查,比较分析两组HRV时域和频域指标的变化及β-TM患儿血清铁蛋白水平与HRV的相关性。结果：地贫组患儿HRV时域指标SDNN、rMSSD、pNN50 和频域指标极低频谱（VLF）、低频谱（LF）、高频谱（HF）均降低,与对照组比较差异有统计学意义（P<0.05）;血清铁蛋白水平与HRV的变化无相关性。结论：β-TM患儿自主神经功能异常;HRV对β-TM患儿早期心功能异常有预测价值。     

重型β地中海贫血患儿生长发育异常及其与铁超负荷的关系

目的：探讨重型β-地中海贫血患儿生长发育状态及其与铁超负荷的关系。方法：于2007年7~8月对50例长期在该院儿科定期输血的重型β 地中海贫血患儿进行身高、体重和性发育评价，并与1995年中国0~18岁儿童体重、身高百分位数参考值比较，同时检测输血前血常规、肝功能和血清铁蛋白水平。结果：24例（48%）重型β-地中海贫血患儿表现身材矮小，其中15例同时伴体重低下。≥10岁者21例，仅7例出现自发性青春期发育，Tanner II~III期；≥14岁者8例，其中4例尚无性征发育。身高低于第10百分位者（n=31）与身高高于第10百分位者(n=19)分组比较，前者血清铁蛋白水平显著增高（8 239.2±5 865.5 vs 5 028.1±3 885.7 mg/L, P<0.05），输血前Hb水平显著降低(68.2±12.3 vs 79.7±14.5 g/L, P<0.05) ，肝脏显著增大(P<0.05)。而体重低于第10百分位者（n=20）与体重高于第10百分位者（n=30）分组比较，前者仅血清铁蛋白水平差异具有显著意义（9 165.5±6 042.5 vs 5 567.3±4 447.3 mg/L, P<0.05）。结论：接受中等量输血和不正规除铁治疗的重型β-地中海贫血患儿常伴有身材矮小、体重低下和性发育迟缓，其生长发育异常与体内铁严重超负荷有关。     

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.     

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   

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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.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

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.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.