Survival of a 30-week baby with congenital myotonic dystrophy initially ventilated for 55 days

In previous reports, duration of initial ventilation exceeding 1 month almost always predicts non-survival of babies with congenital myotonic dystrophy. However, a baby with this condition survived beyond infancy after 55 days' ventilation. We describe this case in detail, explain why the baby survived and highlight the importance of individualized assessment, in addition to applying general prognostic terms described in the literature.     

Anthropomorphic radiologic phantoms

A technique is being developed for the design and fabrication of anthropomorphic phantoms for diagnostic x-ray imaging. Anatomic information extracted from actual patient radiographs is incorporated into the phantoms using computer image processing and computer-assisted machining methods. In this paper, the technique is described as applied to a breast phantom, and preliminary images that closely mimic human anatomy on radiographs are shown.     

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region

Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN. The overlap of the clinical phenotypes of the two conditions (cardiovascular disease and connective tissue abnormalities such as hernias) is due to the effect of haploinsufficiency of ELN. SVAS families often have affected individuals with some WS facial features, most commonly in infancy, suggesting that ELN plays a role in WS facial gestalt as well. To find other genes contributing to the WS phenotype, we studied five families with SVAS who have small deletions in the WS region. None of the families had mental retardation, but affected family members had the Williams Syndrome Cognitive Profile (WSCP). All families shared a deletion of LIMK1, which encodes a protein strongly expressed in the brain, supporting the hypothesis that LIMK1 hemizygosity contributes to impairment in visuospatial constructive cognition. While the deletions from the families nearly spanned the WS region, none had a deletion of FKBP6 or GTF2I, suggesting that the mental retardation seen in WS is associated with deletion of either the centromeric and/or telomeric portions of the region. Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS.     

Sequence Analysis of the RNA Polymerase Gene of Foot-and-Mouth Disease Virus Serotype Asia1

The complete nucleotide (nt.) sequence of the RNA polymerase (3D) gene and 81 nt. in the 3-untranslated region of foot-and-mouth disease virus (FMDV) serotype Asia1 (IND63/72) was determined and compared with the sequence of other FMDV serotypes. The 3D genomic region was 1410 nt. long encoding 470 amino acids with an inframe stop codon (TAA) at nt. position 1411–1413. The deduced amino acid sequence of the protein showed 8 conserved motifs as reported in other picornaviruses, 2 of which are 100% identical across the serotypes. Antigenic regions in the polymerase protein were predicted and found to be located at the N-terminus of the protein. The phylogenetic analysis showed that the FMD viruses were segregated into different clusters based on geographical origin; the Asia1 virus did not cluster tightly with any of the geographical groups.     

跟骨定量超声骨质测量参数与骨密度及骨组织形态计量学指标的关系

目的:分析跟骨定量超声骨质测量中各参数与骨密度及形态计量学指标的相关性。方法:选择2004-01/2005-12广州市第六人民医院和中山大学三院骨科小腿以上截肢患者38例,将其跟骨定量超声测定的超声振幅衰减平均值与健康青年人骨峰值进行比较,>-2.5 SD者为骨量正常组(12例),<-2.5 SD者为骨质疏松组(26例)。分别进行跟骨定量超声、双能X线骨密度测量仪及骨形态计量学测量,应用直线相关分析法分析跟骨定量超声测定中各参数与骨密度及骨组织形态计量学各指标的相关性。结果:38例全部进入结果分析。①骨质疏松组跟骨超声振幅衰减平均值和骨硬度指数值均小于骨量正常组(P<0.01)。②骨量正常组跟骨骨密度值显著高于骨质疏松组[(352±16),(233±14)mg/cm2,P<0.01]。③骨量正常组跟骨平均骨小梁间距或弥散度低于骨质疏松组而松质骨体积高于骨质疏松组(P<0.05)。④超声振幅衰减平均值和骨硬度指数与骨密度呈直线正相关(r=0.814,0.326,P<0.01,0.05)。⑤超声传播速度与骨小梁游离末端、平均骨小梁间距呈直线负相关(r=-0.688,-0.712,P<0.01),与小梁间连点数、松质骨体积呈直线正相关(r=0.672,0.794,P<0.01);骨硬度指数与平均骨小梁间距呈直线负相关(r=-0.358,P<0.05),与松质骨体积呈直线正相关(r=0.513,P<0.01)。结论:跟骨定量超声测量中,超声振幅衰减平均值能较好地反映骨的密度,超声传播速度能较好地反映骨的质量,而骨硬度指数能较综合地反映骨强度的改变。     

混合造血干细胞移植后输注供者淋巴细胞和白细胞介素2对急性髓性白血病疗效的影响

目的:观察急性髓性白血病经混合造血干细胞移植后,应用供者淋巴细胞输注 白细胞介素2治疗的效果,并与移植后未经特殊治疗的效果进行比较。方法:①选取2000-01/2004-07解放军兰州军区兰州总医院全军血液病中心收治的19例急性髓性白血病患者,实验经医院伦理委员会批准,患者均知情同意。随机数字表法分为两组:观察组8例,年龄17～40岁,M2a 4例,M4 1例,M5a 3例;对照组11例,年龄19～39岁,M2a 2例,M3a 2例,M4 3例,M5a 4例。②两组患者采用化疗联合重组人粒细胞集落刺激因子的方法动员自体外周血造血干细胞,采集后液氮中保存5d备用。③术前采用直线加速器对患者全身及肺部照射,预处理完毕后实施混合造血干细胞移植。首先回输自体单个核细胞中位数为4×108/kg,CD34 细胞中位数为6.2×106/kg,粒-巨噬祖细胞集落形成单位中位数为5.8×104/kg。间隔1～6h后,采集人类白细胞抗原半相合异体骨髓,按回输自体单个核细胞数的1/6～1/10输注给患者。④两组患者移植期间均住无菌层流病房,给予相应并发症的防治及支持治疗。在粒细胞降至0时注射重组人粒细胞集落刺激因子150μg/12h,促进造血恢复。观察组给予供者淋巴细胞输注 白细胞介素2治疗,每次采集的供者淋巴细胞中,CD3 淋巴细胞中位数为1.43×108/kg,CD4 细胞中位数为0.97×108/kg,CD8 细胞中位数为0.41×108/kg,中位治疗次数4(1～7)次,回输后即开始应用100wu/d重组人白细胞介素2,共10d。对照组混合造血干细胞移植后未给予特殊治疗。结果:19例急性髓性白血病患者均进入结果分析。①造血恢复:两组患者均获得造血重建,术后4～9d粒细胞均降至0,12～17d粒细胞达0.5×109L-1,16～21d白细胞达4.0×108 L-1,19～23 d血小板达20×108 L-1。16～21 d骨髓检查示恢复期骨髓象。②术后并发症:两组患者不同程度地出现口腔溃疡,随着造血恢复,7～10d溃疡消失。观察组1例患者出现出血性膀胱炎,两组各2例患者出现发热。无肝静脉闭塞病和移植物抗宿主病发生。③嵌合体形成:观察组中1例M4患者形成嵌合体,对照组中2例M4患者与1例M5患者形成嵌合体,嵌合体持续存在3～12个月。④供者淋巴细胞输注 白细胞介素2疗效:观察组中有1例M2a患者在接受2次特殊治疗后7个月复发死亡;1例M2a患者接受2次特殊治疗后1年出现骨髓增生异常综合征,脑出血死亡,1例M5a患者应用特殊治疗1次后出现不明原因高热、抽搐,死于癫痫持续状态,其余5例患者随访2年均健康存活,长期生存率为62.5%(5/8)。对照组有2例M2a患者、2例M4患者、1例M5患者于移植后1～7个月复发死亡,1例M3患者于移植后25d死于脑出血,其余2例M3患者、2例M4患者、1例M5患者随访2年均健康存活,长期生存率为45.4%(5/11)。结论:混合造血干细胞移植后应用供者淋巴细胞输注 白细胞介素2治疗,急性髓性白血病患者均获得造血重建且无移植物抗宿主病发生,其长期生存率有效提高。     

经胸超声心动图指导下应用国产Amplatzer封堵器介入治疗先天性心脏病及其术后随访评估

目的:经胸超声心动图指导下应用国产Amplatzer封堵器介入治疗先天性心脏病,分析其应用价值。方法:选择2005-05/2007-03在成都市第三人民医院应用国产Amplatzer封堵器进行介入治疗的先天性心脏病患者59例,其中膜周型室间隔缺损30例,继发房间隔缺损15例,动脉导管未闭14例,所有患者均知情同意。①所有Amplatzer封堵器均由北京形状记忆合金材料有限公司提供。仪器采用Sequoia256及Sequoia512型彩色多普勒诊断仪,探头频率为2.5～5.0MHz。②在经胸超声心动图及X射线的引导下采用国产封堵器行先天性心脏病介入封堵术,术后1d,7d、1个月、3个月、1年随访,观察封堵器的位置,有无残余分流。结果:59例患者均封堵成功,全部进入结果分析,无脱落。2例膜周型室间隔缺损患者微量残余分流在术后3个月完全消失;其余患者均未见封堵器脱落、移位,无溶血、房室传导阻滞、瓣膜反流、心脏穿孔等严重并发症。结论:经胸超声心动图可用于引导先天性心脏病的封堵器介入治疗,同时也可用于术后随访,观察封堵器封堵后的移位、脱落等物理学变化。     

瘢痕疙瘩家系Fas基因的突变：2个家系10份标本分析

目的:观察瘢痕疙瘩家系样本中Fas基因有无突变,探讨Fas基因突变在瘢痕疙瘩形成中的意义。方法:实验于2005-01/05在上海基康公司完成。①标本来自南方医科大学南方医院整形外科2005年收集的A和B两个瘢痕疙瘩家系,所有参与观察的家系成员均签署知情同意书。②采用聚合酶链反应及基因测序技术,分别以A家系两例患者的瘢痕疙瘩组织为观察对象,以其周围正常皮肤及外周静脉血作为自身对照;其配偶的外周静脉血作为正常对照。并以B家系中两例患者的外周静脉血作为不同家系间的对照。共取10份样本,4份组织样本,6份静脉血标本。检测10份样本中Fas基因外显子1～9的基因序列。结果:①基因测序发现所检测的10个瘢痕疙瘩家系标本Fas基因的1～8外显子均未发现突变。②2份瘢痕疙瘩组织标本在第9外显子编码区的11bp,53bp两个位点上存在单个碱基的基因突变或多态性改变。结论:瘢痕疙瘩Fas基因外显子9区段的基因结构异常极有可能造成Fas蛋白的功能改变,从而导致身体局部瘢痕疙瘩的形成。     

碱性成纤维细胞生长因子在激素性股骨头缺血性坏死模型兔体内变化及桃红四物汤的干预

目的:已有研究证实,活血化瘀中药可对抗激素的作用,对激素性股骨头缺血性坏死早期有明显的防治作用。观察桃红四物汤对激素性股骨头缺血性坏死碱性成纤维细胞生长因子表达的影响,进一步阐明活血化瘀法防治激素性股骨头缺血性坏死的机制。方法:实验于2005-04/2006-10在福建中医学院中心实验室完成。①实验材料:健康成年新西兰大白兔60只,雌雄各半,体质量1.8～2.2kg,清洁级,由福建中医学院实验动物中心购自上海市松江区松联实验动物场。桃红四物汤的组成成分为:桃仁、红花、熟地、当归、白芍、川芎。②实验方法:60只健康成年新西兰大白兔,随机分为正常组6只和实验组54只。实验组采用贺氏造模法建立股骨头缺血坏死模型,6周后处死正常组和实验组各6只,确定造模成功。将造模剩余动物随机分为中药治疗组和激素对照组,每组21只:中药治疗组以桃红四物汤7mL/kg(浓度为0.75g/mL)灌胃治疗,1次/d,激素对照组以生理盐水7mL/kg灌胃治疗,1次/d。③实验评估:于治疗后1,2,4周进行股骨头组织病理学观察,并采用放射免疫法检测血清碱性成纤维细胞生长因子含量变化。结果:纳入新西兰大白兔60只,实验过程中因心脏、脑血管梗死死亡18只,进入结果分析42只。桃红四物汤灌胃治疗1,2,4周后,中药治疗组股骨头局部空骨陷窝数明显减少,与激素对照组比较,差异有显著性意义(P<0.05),中药治疗组碱性成纤维细胞生长因子表达增强,与激素对照组相比,差异有显著性意义(P<0.01)。结论:桃红四物汤能促进激素性股骨头缺血性坏死模型兔体内碱性成纤维细胞生长因子的表达,明显减少股骨头局部空骨陷窝数,促进坏死股骨头的修复,这可能是活血化瘀法防治激素性股骨头缺血性坏死的机制之一。