三聚氰胺泌尿系结石并急性肾衰竭婴幼儿的预后与转归

目的探讨三聚氰胺泌尿系结石(MUS)并急性肾衰竭(ARF)婴幼儿的预后与转归。方法对2008年7-10月在本院住院治疗的21例MUS并ARF婴幼儿[ARF组,年龄(10.5±5.7)个月]进行20个月随访。随访内容包括泌尿系超声、尿常规、肾功能检查,并记录其身高、体质量、临床症状及并发症情况。选取同期住院治疗的30例单纯MUS无ARF患儿(MUS组)及50例无三聚氰胺污染奶粉喂养史的健康儿童(健康对照组)作为对照。比较三组间相关参数异同。结果成功随访17例MUS并ARF患儿;经过保守治疗(其中12例患儿行血液透析),患儿恢复顺利,无临床症状及相关并发症,尿常规和肾功能检查未见明显异常。12例带结石出院患儿中结石消失7例、变小4例、无明显变化1例。8例出院时仍有肾积水的患儿中,5例消失;2例减轻,1例无明显变化。ARF组患儿出院带石率、结石消失率、出院积水率及积水消失率与MUS组比较差异均无统计学意义(Pa>0.05);AFR组和MUS组患儿及健康对照组儿童身高及体质量比较差异均无统计学意义(Pa>0.05)。结论 MUS并AFR患儿经过住院保守治疗(包括血液透析),ARF得以纠正,症状缓解,20个月随访显示预后与转归较好,生长发育无明显影响,未见泌尿系肿瘤形成。     

三聚氰胺泌尿系结石住院婴幼儿一年后随访结果分析

目的 了解2008年喂养三聚氰胺污染奶粉1年后对婴幼儿泌尿系发育的影响.方法 选取178例,随访时年龄:(29.3±9.6)个月,曾住院治疗的三聚氰胺泌尿系结石(MUS)婴幼儿进行16个月随访.随访内容包括泌尿系超声、尿、血常规和肾功能检查及疗效.选取同期非纯母乳和无三聚氰胺污染奶粉喂养史正常儿童110例为对照组(CG),年龄:(29.6±10.1)个月,比较两组相关参数异同.结果 161例成功随访;89例带石出院患儿院外行保守治疗,随访时56例结石消失,25例变小,7例无明显变化,1例增大.MUS患儿补钙的比例明显低于CG、身高偏低的比例显著高于CG(P<0.05).随访未发现泌尿系占位病变.尿常规、血常规无异常,肾和膀胱功能及形态均未见明显异常.结论 食用三聚氰胺污染奶粉1年后对婴幼儿身体和泌尿系发育未产生明显影响.     

食用三聚氰胺污染奶粉相关泌尿系结石患儿的随访

目的：了解食用三聚氰胺污染奶粉相关泌尿系结石患儿的预后情况。方法：用B型超声检查泌尿系统,对北京大学第三医院儿科食用三聚氰胺污染奶粉相关泌尿系结石患儿共47例进行定期随访。结果：研究随访至6个月时,36例（77%）患儿的泌尿系结石自行排出,仅有7例泌尿系结石仍然存在,失访4例,随访中患者均未出现合并症;泌尿系结石的排出与暴露于污染奶粉中三聚氰胺量和时间无关,但与结石部位有关;男童泌尿系结石自行排出时间比女童长,但差异无统计学意义。结论：食用三聚氰胺污染奶粉相关泌尿系结石患儿的预后良好,大多数患儿的泌尿系结石可以自行排出。［中国当代儿科杂志,2010,12（4）：278-279］     

婴幼儿三聚氰胺相关泌尿系结石并发急性肾衰竭诊疗分析

目的 探讨食用受三聚氰胺污染的婴幼儿配方奶粉致泌尿系结石并发急性肾衰竭患儿的临床特点、诊断和治疗措施.方法 回顾性分析首都医科大学附属北京儿童医院和徐州市儿童医院2008年收治的34例因食用三聚氰胺污染的婴幼儿配方奶粉致泌尿系结石、梗阻发生急性肾衰竭的患儿.分析其流行病学、临床表现及影像学特点,总结4种不同的治疗方法 及疗效.结果 34名患儿均存在急性肾衰竭,血尿素氮(24.1±8.2)mmol/L,血肌酐(384.2±201.2)μmol/L.对留取的14例结石标本分析证实,结石是三聚氰胺和尿酸的合成体.膀胱镜治疗组血肌酐降至正常的平均时间为(3.5±1.9)d;切开取石组(2.7±1.1)d;透析组(3.8±2.3)d;内科保守治疗组(2.7±1.6)d.四组肾功能恢复时间差异无统计学意义(P=0.508),组问差异无统计学意义(P=0.803～1).经治疗34例患儿急性肾衰竭全部治愈,泌尿系结石完全或部分排出.肾功能恢复时间为(3.0±1.8)d.结论 三聚氰胺污染婴幼儿配方奶粉可以导致婴幼儿泌尿系结石引发的梗阻性急性肾衰竭,治疗首选药物或透析方法 纠正电解质紊乱,特别是高钾血症,尽快通过内、外科方法 解除梗阻引流尿液.患儿近期预后良好.     

食用含三聚氰胺奶粉致婴幼儿泌尿系统结石的危险因素

目的探讨食用含三聚氰胺奶粉致婴幼儿泌尿系统结石的危险因素。方法2008年本院在对食用含三聚氰胺奶粉婴幼儿进行泌尿系统结石筛查的基础上,对242例泌尿系统结石患儿[病例组。男149例,女93例;年龄(19.092±9.903)个月;食用三聚氰胺污染奶粉时间(14.960±9.055)个月]和242例无尿路结石的婴幼儿[对照组。男149例,女93例;年龄(18.682±9.558)个月;食用三聚氰胺污染奶粉时间(15.240±9.356)个月]进行病例对照研究,以年龄、性别、城乡区域、喂养方式相同作为配比条件。从既往研究和已有文献中选取7项可能影响泌尿系统结石形成的相关危险因素,采用SPSS12.0软件对数据进行χ2检验、单因素及多因素条件Logistic回归分析。结果食用含三聚氰胺高的三鹿奶粉患儿165例,其中结石患儿151例,占总数的62.40%;食用非三鹿奶粉319例,泌尿系结石91例,占37.60%。单因素分析显示,在选取的7种危险因素中,仅食用不同品牌含三聚氰胺奶粉、平均每日饮水量在病例组与对照组间比较差异有统计学意义(Pa<0.01),但饮用水来源、出汗量、补充钙剂、奶粉冲服方式和奶粉食用时间比较差异...     

三聚氰胺与婴幼儿尿路结石

目的 探讨三聚氰胺污染奶粉喂养史婴幼儿泌尿系结石临床特点.方法 回顾性分析165例三聚氰胺污染奶粉喂养史泌尿系结石住院婴幼儿的临床资料.患儿按照卫生部推荐的<诊疗方案>进行治疗.另选30例无三聚氰胺污染奶粉喂养史住院病例作为对照组.结果 患儿发病年龄2岁以内占83.6%(138/165),其中6～12个月患儿占41.2%(68/165).患儿中49.7%(82/165)有临床症状,主要表现为排尿困难16.9%(28/165)、不明原因哭闹14.6%(24/165)、少尿无尿10.9%(18/165)及血尿7.3%(12/165).共发现233处结石,肾结石患儿比例高达79.5%(131/165),尿道结石仅1.2%(2/165).结石直径为2～16 mm,其中4～10mm占63.5%(148/233),>10mm者9.9%(23/233).除1例双肾结石尿路梗阻行逆行输尿管插管手术治疗外,其他患儿均采用保守治疗.治疗(9±5)d后患儿症状均消失,结石排出率为43.0%.结论 三聚氰胺污染奶粉喂养能引起婴幼儿泌尿系结石,多在喂养6～12个月后发病.非手术治疗效果好.     

与食用受三聚氰胺污染配方奶粉相关儿童泌尿系统结石的现况调查

目的 探讨食用受三聚氰胺污染配方奶粉与儿童泌尿系统结石发生的关系.方法 对0～14岁食用受三聚氰胺污染配方奶粉的儿童,通过其家长填写调查问卷、临床问诊、体格检查、尿常规、泌尿系统B超、肾功能、肝功能及其他血、尿生化指标等检查,筛查是否存在泌尿系统结石及其他损害.将受三聚氰胺污染的配方奶粉分为三聚氰胺高含量组和三聚氰胺低含量组,将食用受三聚氰胺污染配方奶粉的时间分为≤30 d和>30 d,依据年龄分为≤1岁、～2岁、～3岁、～6岁和～14岁组.分析性别、年龄、配方奶粉中不同三聚氰胺含量和用奶时间对泌尿系统结石发生的影响.分析泌尿系统结石患儿的临床表现、实验室检查结果及病情转归.结果 接受筛查儿童22 091名,患泌尿系统结石374名,其中男性223名,女性151名,男:女约为1.5∶1.①泌尿系统结石发生率:≤3岁各年龄组,三聚氰胺高含量组均高于三聚氰胺低含量组(P<0.001);～6岁组,三聚氰胺高含量组高于三聚氰胺低含量组(P<0.05);～14岁组,三聚氰胺高含量组与三聚氰胺低含量组差异无统计学意义(P>0.05).三聚氰胺高含量组各相邻年龄组儿童泌尿系统结石发生率差异均无统计学意义(P>0.05);三聚氰胺低含量组除≤1岁组与～2岁组泌尿系统结石发生率差异有统计学意义外(P<0.05),其余各相邻年龄组差异均无统计学意义(P>0.05).②单侧肾结石309例,双侧肾结石60例,单侧输尿管结石6例,双侧输尿管结石2例,膀胱结石4例,尿道结石2例.③93例住院治疗的泌尿系统结石患儿中,血尿8例(8.6%)、脓尿7例(7.5%)、蛋白尿3例(3.2%)、尿痛或尿哭5例(5.4%)、少尿或无尿2例(2.2%)、水肿2例(2.2%)、血β<,2>-微球蛋白(β<,2>-MG)增高25例(26.9%)、尿β<,2>-MG增高4例(4.3%);BUN和SCr增高各2例(2.2%),均无磷酸激酶同工酶和ALT升高.9例需外科治疗,其余内科保守治疗.治愈34例,好转55例,未愈2例,自动出院或转院2例.结论 食用受三聚氰胺污染配方奶粉与儿童泌尿系统结石的发生有关,泌尿系统结石发生可能与年龄无关,与食用受三聚氰胺污染配方奶粉相关的泌尿系统结石可能对肾脏有一定损害.     

3108例食用三聚氰胺污染奶粉儿童筛查结果分析

目的 探讨佛山地区食用三聚氰胺污染奶粉小儿泌尿系结石的分布情况.方法 对因食用三聚氰胺污染奶粉就诊的小儿进行尿常规及B超检查,经临床及B超确诊为泌尿系结石的患儿进一步检查肝、肾功能及腹部平片,并进行临床埘比分析.结果 3 108名就诊小儿中,B超结果提示肾脏强光团51例(1.64%),符合国家卫生部颁发的.肾结石诊断标准8例.B超检查结果异常以食用三鹿奶粉儿为主(P<0.05),且泌尿系B超有无强光团与患儿年龄相关(X2=12.43,P<0.05).结论 食用三聚氰胺污染奶粉引起泌尿系异常与三聚氰胺的含量相关,与年龄相关.     

与食用受三聚氰胺污染配方奶粉相关儿童泌尿系统结石的

目的探讨食用受三聚氰胺污染配方奶粉与儿童泌尿系统结石发生的关系。方法对0~14岁食用受三聚氰胺污染配方奶粉的儿童,通过其家长填写调查问卷、临床问诊、体格检查、尿常规、泌尿系统B超、肾功能、肝功能及其他血、尿生化指标等检查,筛查是否存在泌尿系统结石及其他损害。将受三聚氰胺污染的配方奶粉分为三聚氰胺高含量组和三聚氰胺低含量组,将食用受三聚氰胺污染配方奶粉的时间分为≤30 d和＞30 d,依据年龄分为≤1岁、～2岁、～3岁、～6岁和～14岁组。分析性别、年龄、配方奶粉中不同三聚氰胺含量和用奶时间对泌尿系统结石发生的影响。分析泌尿系统结石患儿的临床表现、实验室检查结果及病情转归。结果接受筛查儿童22 091名,患泌尿系统结石374名,其中男性223名,女性151名,男∶女约为1.5∶1。①泌尿系统结石发生率：≤3岁各年龄组,三聚氰胺高含量组均高于三聚氰胺低含量组（P<0.001）;～6岁组,三聚氰胺高含量组高于三聚氰胺低含量组（P<0.05）;～14岁组,三聚氰胺高含量组与三聚氰胺低含量组差异无统计学意义（P>0.05）。三聚氰胺高含量组各相邻年龄组儿童泌尿系统结石发生率差异均无统计学意义（P>0.05）;三聚氰胺低含量组除≤1岁组与～2岁组泌尿系统结石发生率差异有统计学意义外（P<0.05）,其余各相邻年龄组差异均无统计学意义（P>0.05）。②单侧肾结石309例,双侧肾结石60例,单侧输尿管结石6例,双侧输尿管结石2例,膀胱结石4例,尿道结石2例。③93例住院治疗的泌尿系统结石患儿中,血尿8例（8.6%）、脓尿7例(7.5%)、蛋白尿3例（3.2%）、尿痛或尿哭5例（5.4%）、少尿或无尿2例（2.2%）、水肿2例（2.2%）、血β2-微球蛋白（β2-MG）增高25例（26.9%）、尿β2-MG增高4例（4.3%）;BUN和SCr增高各2例（2.2%）,均无磷酸激酶同工酶和ALT升高。9例需外科治疗,其余内科保守治疗。治愈34例,好转55例,未愈2例,自动出院或转院2例。结论食用受三聚氰胺污染配方奶粉与儿童泌尿系统结石的发生有关,泌尿系统结石发生可能与年龄无关,与食用受三聚氰胺污染配方奶粉相关的泌尿系统结石可能对肾脏有一定损害。     

有三聚氰胺污染奶粉喂养史的112例3岁内患儿泌尿系结石内科治疗效果

目的 总结3岁内有三聚氰胺污染奶粉喂养史泌尿系结石患儿内科治疗效果,为临床诊治提供参考.方法 有三聚氰胺污染奶粉喂养史的结石患儿112例[男73例,女39例;年龄(14.43±8.63)个月],入院后主要行补液、碱化尿液治疗(静脉滴注50 g/L碳酸氢钠0.5 mL/kg),并同时检测患儿尿液pH值,根据其变化调整用药量.对肾衰竭患儿予血液透析治疗.以内科治疗结束时情况判定疗效.结果 112例患儿住院治疗3～25 d,痊愈56例,有效49例,无效7例.痊愈、有效及无效组患儿入院时B超测定结石直径分别为(4.77±3.16) mm、(8.13±3.79) mm和(6.92±2.65)mm,尿pH值分别为5.64±0.11、5.75±0.10和6.38±0.31.无效组尿pH平均值与痊愈组比较有明显差异(P<0.05).排出的结石最大直径为6 mm.0～3个月、4～6个月、7～12个月和13～36个月组间疗效比较无显著差异(P>0.05).结论 3岁内有三聚氰胺污染奶粉喂养史泌尿系结石患儿内科治疗效果较好.疗效与治疗前结石大小和尿液pH值有关,与年龄无关.     

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.

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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.     

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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     

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.