先天畸形及代谢缺陷

071393X-连锁肾上腺脑白质营养不良患者氢质子核共振波谱特征及其临床意义/应艳琴…∥中国实用儿科杂志.-2006,21(12).-909~913结果:N-乙酰天冬氨酸(NAA)/肌酐(Cr)在病变明显区比病变周围区明显降低(1.32±0.57,2.01±0.33,P<0.05),胆碱复合物(Cho)/Cr在病变周围区比似正常区明显升高(2.34±0.34,1.83±0.25,P<0.05)。血极长链脂肪酸(VLCFA)水平不能反映病变的严重程度,Lorenzo油治疗3个月后患者VLCFA下降,氢质子核共振波谱显示未出现临床症状者中枢脱髓鞘明显减轻,已出现临床症状者波谱变化不大。图4表2参12(张小冬)07139453例X染…     

核磁共振和核磁共振波谱结合粗大运动评定量表在儿童脑性瘫痪分度诊断的应用

目的 探讨头部核磁共振、核磁共振波谱以及粗大运动评定量表对儿童脑性瘫痪的分级诊断价值.方法 40例1.0～2.0周岁的健康儿童和42例1.1 ～2.0周岁的脑性瘫痪儿童为研究对象,对比正常儿童与脑性瘫痪患儿的MRI、MRS检测结果;根据核磁共振结果对脑性瘫痪进行分度,并用核磁共振波谱检测不同核磁共振分度的脑性瘫痪患儿脑内的NAA/Cr、CHO/Cr、LAC/Cr水平并分度;考察不同核磁共振和核磁共振波谱分度脑性瘫痪患儿的粗大运动评定量表得分情况.结果 核磁共振和核磁共振波谱均能有效区分脑性瘫痪患儿脑内的典型病变,脑内的NAA、Cr、Cho能被核磁共振波谱定量检测.不同核磁共振分度的患者脑内的NAA/Cr、CHO/Cr、LAC/Cr有所差异,重度患者与中度患者间的差异具有统计学意义(P＜0.05).脑性瘫痪的核磁共振波谱分度与核磁共振分度相符率不理想,但粗大运动评定量表评分表明各不同分度之间有差异(P＜0.05).结论 核磁共振和核磁共振波谱结合粗大运动评定量表可有效完善脑性瘫痪的分度诊断,这对不同类型儿童脑性瘫痪的临床治疗具有一定的指导意义.     

全面性发育迟缓患儿磁共振波谱与认知功能的相关性研究

目的探讨不同程度全面性发育迟缓患儿额叶、海马区代谢物特点,并探索其与认知功能水平的相关性。方法纳入66例头颅磁共振成像无明显异常的全面性发育迟缓患儿,采用Gessell发育诊断量表评估认知功能水平,并根据发育商(DQ)分为轻度发育迟缓组(24例)、中度发育迟缓组(20例)、重度发育迟缓组(22例);利用磁共振波谱(MRS)技术,选择双侧额叶白质、海马区为感兴趣区,计算其中N-乙酰天门冬氨酸/肌酸(NAA/Cr)、胆碱/肌酸(Cho/Cr)、NAA/(Cho+Cr)的相对值,比较轻度、中度、重度发育迟缓组的代谢物水平,并探讨其与病情程度、认知功能的相关性。结果三组患儿的双侧额叶白质以及海马区NAA/Cr、Cho/Cr、NAA/(Cho+Cr)水平的差异均无统计学意义(P0.05)。各代谢物相对水平与病情程度、认知功能均无显著相关性(P0.05)。结论选择额叶白质及海马区行MRS检查,对评估全面性发育迟缓患儿的疾病严重程度及认知功能的价值不大。     

氢质子磁共振波谱在热性惊厥中的临床应用

目的应用氢质子磁共振波谱(1H-MRS)检测热性惊厥(FS)患儿脑组织生化代谢物,了解FS发作后脑损伤情况,探讨1H-MRS在FS中应用的意义。方法对25例FS患儿和6例神经系统正常儿童进行常规头颅MRI和颞叶海马区的1H-MRS检查。25例FS患儿中,15例为单纯性热性惊厥(SFS),10例为复杂性热性惊厥(CFS)。检测指标为N-乙酰天门冬氨酸(NAA)、肌酸(Cr)、胆碱(Cho)、谷氨酸-谷氨酰胺复合物(Glx)和乳酸(Lac)的信号强度,计算并比较NAA/(Cho Cr)和Lac/Cr的比值。结果头颅MRI检查结果为FS组及对照组均未显示异常。1H-MRS检测结果为NAA/(Cho Cr)比值,SFS组为0.71±0.05,CFS组为0.65±0.04,对照组为0.73±0.05,CFS组明显低于SFS组及对照组(Pa<0.01),但后二者之间无明显差异(P>0.05)。Lac/Cr比值SFS组(0.32±0.21)和CFS组(0.63±0.30)高于对照组(0.05±0.04)(Pa<0.05),且CFS组高于SFS组(P<0.01)。结论1H-MRS作为一项无创检查,能更敏感地发现FS患儿的早期脑损伤,为FS尤其是CFS患儿的治疗、评估预后提供客观依据。     

中重度肥胖儿童脑代谢的质子磁共振波谱变化

目的探讨肥胖儿童额叶和海马感兴趣区的脑代谢特征。方法对象为2005年安徽省肥胖儿童夏令营小学生。分别对9例肥胖(肥胖组)及其配对的体质量健康儿童(健康对照组)进行测量(身高、体质量、腰围、臀围)和瑞文推理测验;双能X线吸收仪(DXA)测定全身体脂百分比;采用氢质子磁共振波谱(1H-MRS)检测额叶、海马部位脑代谢特点。结果1.肥胖组额叶部位N-乙酰天门冬氨酸(NAA)、额叶胆碱(Cho)、额叶肌酸(Cr)水平均显著低于健康对照组(126.88、80.38、53.13vs160.5、101.63、71.5)(Pa<0.05);2.肥胖组额叶NAA/Cr比高于健康对照组;海马部位NAA、Cr、NAA/Cr、Cho均较健康对照组高,但均无统计学差异(Pa>0.05)。结论中重度肥胖儿童额叶NAA减低表明额叶神经元数量减少,Cho减低提示中重度肥胖可能影响了儿童白质髓鞘化过程,造成白质髓鞘化过程慢于对照组;而Cr减低表明肥胖儿童额叶代谢低下。     

氢质子磁共振波谱在原发性癫癎中的应用研究

目的：应用氢质子磁共振波谱(proton magnetic resonance spectroscopy, 'H-MRS)检测癫癎患儿的脑组织生化代谢物,探讨'H-MRS在原发性癫癎中的临床应用价值及意义。方法：对33例原发性癫癎患儿（癫癎组,其中14例有热性惊厥史）和6例正常儿童（对照组）进行常规头颅MRI和颞叶海马区的'H-MRS检查。检测N-乙酰天门冬氨酸(NAA)、肌酸(Cr)、胆碱(Cho)和乳酸(Lac)的信号强度,计算并比较NAA/（Cho+Cr）和Lac/Cr的比值。结果：头颅MRI检查：除1例癫癎患儿表现为髓鞘发育不良外其余所有研究对象均无异常。'H-MRS检测：NAA/（Cho+Cr）比值在癫癎组为0.64±0.07,低于对照组(0.73±0.05)（P＜0.01）;同时伴有热性惊厥史的癫癎患儿为0.61±0.07,低于不伴有热性惊厥史的癫癎患儿（0.66±0.06）（P＜0.05）。癫癎组Lac/Cr比值与对照组差异无统计学意义。结论：'H-MRS作为一项无创的检查,能更敏感地发现癫癎患儿的早期脑损伤,为癫癎的诊断和评估预后提供客观依据。［中国当代儿科杂志,2010,12（6）：425-428］     

X-连锁肾上腺脑白质营养不良诊治

X-连锁肾上腺脑白质营养不良(X-ALD)是一种遗传性神经变性病,主要累及脑白质、神经轴突、肾上腺皮质和睾丸。X-ALD是由位于X染色体长臂2区8带的ABCD1基因缺陷引起;主要生化改变是继发于过氧化物酶体功能异常的极长链脂肪酸(VLCFA)蓄积。临床上至少有6种表现型,其中儿童脑型最严重。对疑似病例主要通过生化检测确诊,受累家系应做产前诊断。本病目前尚无有效治疗方法。对于仅有脑部影像学改变的无症状患者给予罗伦佐油(Lorenzo’s oil)可以阻止疾病进展。处于早期阶段的脑型患者可选择用异基因造血干细胞移植(HSCT)治疗。一旦出现肾上腺皮质功能不全表现,则须用激素替代治疗,方法同自身免疫性Addison病。     

氢质子磁共振波谱检测小儿热性惊厥及癫癎临床价值研究

目的 探讨氢质子磁共振波谱(proton maglletic resonance spectrpscopy,1H-MRS)检测在热性惊厥(febrile seizure,FS)及癫瘖(epilepsy,EP)中的临床应用价值及意义.方法 2006-2007年收治惊厥患儿共41例,其中FS组25例.其中单纯性热性惊厥(simple febrile seizure,SFS)组15例及复杂性热性惊厥(complex febrile sei-zure.CFS)组10例;EP组16例,按有无合并热性惊厥史分为伴有热性惊厥组7例和不伴热性惊厥组9例.对热性惊厥和癫癎患儿进行常规头颅磁共振(MRI)及颞叶海马区1H-MRS检查,并选择6例神经系统正常儿童作对照组.1H-MRS检测指标:N-乙酰天门冬氨酸(NAA)、肌酸(Cr)、胆碱(Cho)、谷氨酸-谷氨酰胺复合物(Glx)和乳酸(Lac)的信号强度,计算NAb/(Cho Cr)和Lac/Cr的比值,并进行比较.结果 头颅MRI检查结果:FS组及对照组均正常,EP组除1例髓鞘发育不良外余均正常.1H-MRS检查结果显示:NAA(Cho Cr)比值SFS组为0.71±0.05.CFS组为0.65±0.04,EP组为0.62±0.04(其中伴有热性惊厥史EP组为0.60±0.03,不伴有热性惊厥史的EP组为0.64±0.04),对照组为0.73±0.05.NAA/(Cho Cr)比值在CFS组与EP组之间无明显差异(P>0.05),但两组均低于对照组(P<0.01);CFS组明显低于SFS组及对照组(P<0.01),但后两者差异无统计学意义(P>0.05);伴有热性谅厥史的EP组低于不伴有热性惊厥史的EP组(P<0.05). Lac/Cr比值SFS组(0.32±0.21)和CFS组(0.63±0.30)不仅高于对照组(0.05±0.04)(P<0.05),也明显高于EP组(0.11±0.09)(P<0.05);CFS组Lac/Cr高于SFS组,P<0.01;EP组Lac/Cr与对照组比较无明显差异.结论 (1)NAA/(Cho Cr)比值是反映脑损伤的客观指标,该指标在CFS及EP患儿脑组织中下降,提示存在神经元丢失或功能失常.(2)Lac/Cr比值是反映脑急性缺氧的指标,该指标在SFS及CFS患儿脑组织中升高,提示惊厥过程中存在脑局部缺血,即使是短暂单次的惊厥发作亦存在脑损伤.(3)1H-MRS作为一项无创的检查,能更敏感地发现FS及EP惠儿的早期脑损伤.有助于弥补MRI的不足及其他有创检查的损伤,为FS及EP患儿治疗、评估预后提供客观依据.     

磁共振成像及质子磁共振波谱评价足月新生儿缺氧缺血性脑病

目的利用脑磁共振成像（MRI）及质子磁共振波谱（^1HMRS）技术探讨足月新生儿缺氧缺血性脑病（HIE）脑形态学变化及脑代谢物的改变。方法对足月新生儿HIE46例进行头颅MRI、^1HMRS检查，并以无窒息史的9例新生儿作为对照。结果1．MRI显示HIE患儿存在12种异常征象，其中弥漫性脑水肿、灰白质分界消失、T1WI基底核异常高信号伴内囊后肢正常高信号消失、胼胝体水肿、脑回征、脑实质广泛出血等征象是脑损伤严重表现。2．^1HMRS显示乳酸／肌酸（Lac／Cr）比值、谷氨酸复合物-α钡酸（Glx—α／Cr）比值在HIE各组及对照组比较均有显著差异（P〈0．05），且与临床分度有显著相关性（ρ=0．76，059P〈0．0001），N-乙酰门冬氨酸／肌酸（NAA／Cr）比值在HIE重度组明显低于中、轻度组（P〈0．05）。结论MRI和^1HMRS相结合可客观反映HIE患儿脑形态及代谢变化，评价其脑损伤严重程度。     

氢质子磁共振波谱和磁共振弥散加权成像早期诊断新生儿缺氧缺血性脑病的价值探讨

目的探讨磁共振弥散加权成像(DWI)的表观弥散系数值(ADC)和氢质子磁共振频谱(1H-MRS)在评价足月新生儿缺氧缺血性脑病(HIE)中的临床价值。方法32例足月HIE患儿和同期10例健康足月新生儿生后10d内行DWI和1H-MRS扫描,记录代谢产物1H-MRS波峰下面积和ADC值,并进行比较。结果(1)HIE组右侧基底节和额叶的乳酸/肌酸比值(Lac/Cr)较对照组升高,N乙酰天门冬氨酸/肌酸比值(NAA/Cr)、胆碱/肌酸比值(Cho/Cr)较对照组降低,差异有统计学意义(P均<0.05);轻度、中度、重度HIE组右侧基底节和额叶的Lac/Cr比值逐渐升高,均高于对照组(P均<0.05),右侧基底节NAA/Cr、Cho/Cr比值逐渐降低,均低于对照组(P均<0.05)。HIE的临床分度与右侧基底节和额叶的Lac/Cr呈正相关,与右侧基底节的NAA/Cr、Cho/Cr呈负相关。(2)HIE组左右两侧豆状核及右侧额叶深部白质ADC值较对照组降低,差异有统计学意义(P<0.05);HIE临床分度与左右两侧豆状核及右侧额叶深部白质的ADC值为负相关。(3)右侧基底节NAA/Cr与左右两侧豆状核ADC值呈正相关。...     

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   

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.     

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.     

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.

---

---

Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Psychopathologie du syndrome d’Asperger et « aspérigisation » de la société contemporaine

The author has attempted here to point out, just for a start, the characteristics of Asperger syndrome from the point of view of psychopathology through a rereading of Hans Asperger's original paper (1944). This thesis merits reevaluation, if for no other reason than to fill the gaps in operational diagnostics based on the DSM. It is found by rereading that Asperger's view of the principal disturbances of autistic psychopathy include a “disturbance of natural evidence” or a “crisis of common sense”. This question of natural evidence that he evokes with regard to autistic psychopathy corresponds to W. Blankenburg's natural evidence, which constitutes a key concept for comprehending schizophrenia in the form poor-symptom (“symptomarme Schizophrenie”) that he observes in the speech of his patient Anne Rau. One can deduce from this that in terms of fundamental disturbances, Asperger syndrome and this “symptom-poor” schizophrenia overlap at the level of loss of natural evidence. It is moreover possible to classify Asperger syndrome among the disturbances of spacing in the sense meant by the evolutionary psychiatry of A. Stevens and J. Price. The author then develops our comprehension of Asperger syndrome from the point of view of the perspective proposed by the notion of resilience in people with Asperger syndrome and of the possibility for them, through these mechanisms of adaptation, to find in the organization of the personality of the “as if” type a position of relative equilibrium. They concur or overlap in the creation of crutches, of borrowed personalities secondarily legitimated by the reaction of the socius. This will end up in the production of inventions and œuvres (works). Clearly, one rarely encounters several cases that one could consider pertinently to be “successful” Asperger syndrome. Finally, the author notes that one can find a sort of isomorphism between Asperger syndrome and contemporary society when he proposes the term “asperigisation” to characterize our society, given that the equilibrium between emotion and logic is strongly disturbed in these patients, in whom logic undergoes hypertrophy while emotion is impoverished. From this perspective, the author hopes to suggest reasons for the increase in the number of cases of Asperger syndrome in the clinical setting and in society in general in our contemporary era.     

Bibliometric data: a disaster for many non-American biomedical journals

Bibliometric data published by the Institute of Scientific Information in Philadelphia (ISI), and which was previously discussed in Acta Paediatrica , has increasingly been used despite all the relevant and severe criticism that has been raised against this method of evaluating individual research results and grading scientific journals. It is obvious that the present trend regarding the use of bibliometric data as a basis for priorities and funding of research and for the promotion of individual scientists favours American-oriented research projects at the expense of those that are based on concepts of predominantly European relevance.

Conclusion: For the future of non-American research, it is important that no single super-power, i.e. the USA, should dominate scientific priorities. The condition for efficient European competition is that European Centres with high levels of competence for creative research and training of scientists from all over the world are established. In addition, it is important that the results of European research are published in prestigious European journals, as was the situation before World War II.     

�¶�֢��ϵ�ϰ���ע��ȱ�ݶද�ϰ������ڵ�ת��

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     

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.     

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.