Molecular Cloning of 19p13 Breakpoint Region in Infantile Leukemia with t(11;19)(q23;p13) Translocation

We studied the breakpoint regions involved in t(11;19)(q23;p13) translocation associated with infantile leukemias. Southern blot analysis with the partial cDNA clone for the MLL gene at 11q23 which we had isolated previously detected gene rearrangements in all three cell lines and three leukemia samples from the patients with t(11;19) translocation, indicating that these breakpoints were clustered within the 8.5 kb Bam HI germline fragment detected by the probe. To study the breakpoint region, a genomic library of one of the cell lines, KOCL-33, was made. We have isolated the der(19) allele containing the breakpoint as well as the germline alleles at 19p13 and 11q23. Using the genomic probes on chromosome 19 near the breakpoint, Southern blot analysis was performed. The breakpoints at 19p13 of the two other cell lines and the three leukemia samples were not located within 36 kilobases of the KOCL-33 breakpoint, although pulsed-field gel electrophoresis showed that the breakpoints of all three cell lines were on the same Nru I fragment of 230 kilobases. These results showed that the breakpoints at 19p13 were not clustered like those at 11q23 in t(11;19) translocation.     

Being "slow to see" is a dynamic visual function consequence of infantile nystagmus syndrome: model predictions and patient data identify stimulus timing as its cause

The objective of this study was to investigate the dynamic properties of infantile nystagmus syndrome (INS) that affect visual function; i.e., which factors influence latency of the initial reflexive saccade (Ls) and latency to target acquisition (Lt). We used our behavioral ocular motor system (OMS) model to simulate saccadic responses (in the presence of INS) to target jumps at different times within a single INS cycle and at random times during multiple cycles. We then studied the responses of 4 INS subjects with different waveforms to test the model's predictions. Infrared reflection was used for 1 INS subject, high-speed digital video for 3. We recorded and analyzed human responses to large and small target-step stimuli. We evaluated the following factors: stimulus time within the cycle (Tc), normalized Tc (Tc%), initial orbital position (Po), saccade amplitude, initial retinal error (e(i)), and final retinal error (e(f)). The ocular motor simulations were performed in MATLAB Simulink environment and the analysis was performed in MATLAB environment using OMLAB software. Both the OMS model and OMtools software are available from http://http:www.omlab.org. Our data analysis showed that for each subject, Ls was a fixed value that is typically higher than the normal saccadic latency. Although saccadic latency appears somewhat lengthened in INS, the amount is insufficient to cause the "slow-to-see" impression. For Lt, Tc% was the most influential factor for each waveform type. The main refixation strategies employed by INS subjects made use of slow and fast phases and catch-up saccades, or combinations of them. These strategies helped the subjects to foveate effectively after target movement, sometimes at the cost of increased target acquisition time. Foveating or braking saccades intrinsic to the nystagmus waveforms seemed to disrupt the OMS' ability to accurately calculate reflexive saccades' amplitude and refoveate. Our OMS model simulations demonstrated this emergent behavior and predicted the lengthy target acquisition times found in the patient data.     

沙丁胺醇加异丙托溴铵治疗喘息性支气管炎

目的:观察空气压缩泵雾化吸入沙丁胺醇加异丙托溴铵治疗婴幼儿喘息性支气管炎的效果.方法:喘息性支气管炎患儿74例,分为治疗组35例,以空气压缩泵雾化吸入0.5%沙丁胺醇0.25 mL•次 1和0.025%异丙托溴铵0.5 mL•次 1加0.9%氯化钠溶液至2～3 mL,空气压缩泵雾化吸入,bid,每次10～15 min,疗程3～7 d;对照组39例,不加雾化.两组患儿其他治疗均相同.结果:治疗组有效率94.3%,对照组有效率64.1%(P＜0.01).结论:沙丁胺醇加异丙托溴铵雾化吸入治疗婴幼儿喘息性支气管炎能减轻症状,缩短病程,改善预后.     

Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin

Background and purpose:  Long-term follow-up of children with idiopathic West syndrome (WS) treated with adrenocorticotropic hormone (ACTH) or vigabatrin.
Methods:  Records of 28 normal magnetic resonance imaging (MRI) WS cases were reviewed for seizure development and cognitive outcome in relation to treatment type and lag.
Results:  Average age at disease onset was 5.5 months, and average lag time to treatment was 25 days. Fourteen patients were treated with ACTH (eight early and six late), and 14 with vigabatrin (without delay). Response rates were 88% for ACTH and 80% for vigabatrin. Short-term outcomes for seizure cessation and electroencephalography normalization were identical between the groups. In the long-term, early ACTH treatment was better than the rest combined. Average follow-up time was 9 years. A normal cognitive outcome was achieved in 100% of the early-ACTH group, 67% of the late-ACTH group and 54% of the vigabatrin group ( P  = 0.03). Seizures subsequently developed in 54% of the vigabatrin group, in 33% of the late ACTH group, and 0% of the early ACTH group ( P  < 0.05).
Conclusions:  Idiopathic WS with normal MRI is associated with a good cognitive outcome. Early ACTH treatment, administered within 1 month, yields a better cognitive and seizure outcome than vigabatrin or late ACTH.     

平阳霉素乳剂对增生期毛细血管瘤细胞凋亡的诱导

目的 探讨平阳霉素乳剂对增生期毛细血管瘤细胞凋亡的影响，寻找促使血管瘤消退的新方法。方法 选取6个月以内体表增生期毛细血管瘤志愿患儿30例，随机分为两组，每组15例。将平阳霉素乳剂涂于用药组瘤体表面；对照组则只涂以基质。用药7d后，两组均手术切除瘤体，制成石蜡切片观察细胞微观变化；采用TUNEL方法检测两组细胞凋亡指数；另取两组各2例制成电镜标本观察细胞超微结构变化。结果 用药组比对照组凋亡细胞明显增多，两组凋亡指数比较差异有统计学意义（t=6．893，P〈0．01）。结论 平阳霉素乳剂可诱导增生期毛细血管瘤细胞发生凋亡而促进其消退，其机制可能与阻断细胞周期和激活凋亡信号传导通路有关。     

婴幼儿血管瘤病理结构变化与临床演变过程的联系

目的探讨婴幼儿血管瘤患者临床演变过程和病理结构变化的内在联系。方法选取52例婴幼儿血管瘤标本，年龄2个月至11岁。采用HE染色观察各阶段血管瘤的病理特点，使用图像分析系统分析血管瘤组织中的细胞总数量、微血管总数量和总面积。结果按患儿出生后时间：1～6个月，血管瘤中细胞增殖速度快、排列紧密，微血管数量迅速增加；7～12个月，血管瘤中细胞数量迅速减少，微血管数量减少，但总面积继续扩大；1～3岁，大部分血管瘤组织呈微血管团样，微血管面积最大；3～5岁，微血管数量和总面积均迅速减少；5岁之后，大部分血管瘤消退完成．被纤维脂肪组织代替。结论婴幼儿血管瘤患者临床演变过程和病理结构变化有密切联系，病理结构变化主导临床演变过程。     

78例儿童孤独症患者体感诱发电位分析

目的:通过观察和分析儿童孤独症患者体感诱发电位(SEP)的改变,探讨其在儿童孤独症诊断中的临床意义。方法:对1岁零8个月至8岁的78例孤独症儿童进行SEP检查,观察皮层第一个电位P40潜伏期及P40、N50、P60、N75波幅的改变。结果:78例孤独症患儿皮层电位P40潜伏期均有延长,其中双侧延长55例,单侧延长23例,并波幅分化差或左右不对称18例。结论:孤独症患者体感传导通路皮层电位潜伏期延长和波幅的改变,提示皮层下(包括脑干、丘脑)和相关皮层功能受损的可能,结合影像学检查,对评价神经系统功能及预后有一定的价值,对孤独症患儿临床诊断有帮助。     

Acne infantum as presenting symptom of congenital adrenal hyperplasia due to 11‐beta‐hydroxylase deficiency

Infantile acne is a rare condition which usually begins after the third month of life and appears mainly on the cheeks. Spontaneous healing typically occurs within 2 years. A 2‐year‐old boy developed acne infantum during the first days after birth; it failed to respond to topical treatment. Detailed physical examination and endocrinologic evaluation confirmed the presumed diagnosis of congenital adrenal hyperplasia (CAH), and showed it was caused by 11‐beta‐hydroxylase deficiency. CAH comprises a group of autosomal‐recessively inherited disorders. These hereditary enzyme defects in steroid biosynthesis cause glucocorticoid deficiency and an overproduction of biosynthetic precursor steroids. Adrenal androgen biosynthesis is not impaired but shows a massive reactive overproduction due to the increased ACTH secretion within the up‐regulated hypothalamo‐pituitary‐adrenal system. The characteristic features of CAH in male infants are demonstrated on the basis of this case report.     

Simultaneous endoscopic third ventriculostomy and ventriculoperitoneal shunt for infantile hydrocephalus

Objective We analyzed a series of consecutive hydrocephalic infants treated with implantation of a ventriculoperitoneal shunt (VPS) and endoscopic third ventriculostomy (ETV) simultaneously. Materials and methods Between 1995 and 2006, we treated the 111 hydrocephalic infants. Among those patients, 31 infants underwent VPS and ETV simultaneously, and 45 patients underwent only VPS. The ETV plus VPS group had 17 males and 14 females with a mean age of 6.32 months. The VPS only group consisted of 25 males and 20 females with a mean age of 4.43 months. There was no difference in etiology of hydrocephalus or clinical characteristics between the two groups. We compared shunt effectiveness by calculating the pre- and postoperative ventricular index and shunt failure rates during the follow-up period between the two groups. The follow-up period ranged from 6 to 140 months (mean, 53.23 months) in the ETV plus VPS group and from 6 to 148 months (mean, 75.98 months) in the VPS only group. The success rate was 83.9% (26 of 31) in the ETV plus VPS group and 68.9% (31 of 45) in the VPS only group. There were three infections and two shunt obstructions in the ETV plus VPS group versus eight obstructions, five infections, and one overdrainage in the VPS group. The preoperative and postoperative ventricular ratio of both groups showed statistically significant change (P < 0.000). Conclusion This simultaneous procedure could be the first choice of action for the hydrocephalic patients less than 1 year old.     

不同步性发育理论是否可解释婴儿痉挛症的发病

婴儿痉挛症是一种好发于婴儿时期的难治型痫样脑病。虽然研究者们已经发现了很多相关的发病因素,但其发病机制仍不清楚。通过对既往相关领域文献的复习,重点介绍一个用于解释婴儿痉挛症发病机制的新模型——以不同步性发育为基础的模型。