ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD1. This study used direct sequencing of genomic polymerase chain reaction products to perform mutational analysis of ABCD1 in 34 unrelated Chinese X-linked adrenoleukodystrophy patients and 27 of their maternal relatives. Thirty-two different mutations were identified in 34 patients. Most of the mutations (62.5%, 20/32) were missense mutations, six of which are novel. One novel single nucleotide polymorphism, c.1047 C>A, was also found in three patients and their mothers, which can also be observed in 1 of 120 normal control alleles. Two synonymous mutations (p.L516L and p.V349V) appeared in two unrelated patients, and no other mutations were evident after screening the gene's 10 exons. Seventeen of the probands' mothers were found to be heterozygous for the same mutations present in their sons' ABCD1 gene. Eight of the 10 screened sisters and cousins were identified as carriers. There were no hot spot mutations in the ABCD1 gene of Chinese patients with X-linked adrenoleukodystrophy. However, over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons. No obvious relationship between genotype and phenotype was observed.     

White matter lesions are prevalent but differentially related with cognition in aging and early Alzheimer disease

BACKGROUND: White matter lesions (WMLs) are prevalent in nondemented aging and in Alzheimer disease (AD). Their relationship with cognition in the earliest stages of AD is unknown. OBJECTIVE: To assess the relationship between WMLs and cognition in nondemented aging and in early-stage AD. DESIGN: Cross-sectional study. SETTING: Alzheimer Disease Research Center, St Louis, MO. PARTICIPANTS: Participants were nondemented (n = 88) or had very mild (n = 48) or mild (n = 20) AD. MAIN OUTCOME MEASURES: Regression coefficients for deep WMLs and periventricular WMLs (PVWMLs) as predictors of cognition, after controlling for age, educational achievement, brain atrophy, and infarctlike lesions. RESULTS: White matter lesions were present in nondemented aging and in early-stage AD, with no group differences in deep WML burden and a modest PVWML burden increase in the AD group. The prevalence of infarctlike lesions was equivalent between groups. Age and hypertension were related to deep WML burden and PVWML burden. Deep WML burden and PVWML burden were associated with reduced global cognition in AD but not in nondemented aging. A PVWML x AD status interaction for global cognition suggests that the relationship between PVWMLs and cognition is modified by AD. In AD, global cognitive reductions were related to impairments in visual memory, processing speed, and executive function. CONCLUSIONS: White matter lesions are prevalent in nondemented aging and in early-stage AD, and their presence influences cognitive impairment in the earliest stages of AD. Individuals with early-stage AD may be more vulnerable to the cognitive effect of WMLs than nondemented aging individuals with similar WML burden.     

腹部手术致乳糜漏解剖学基础的研究

目的　为预防上腹部与腹膜后区手术引起的乳糜漏提供解剖学依据。方法　对 32例成人尸体标本的胸导管起始端、乳糜池、肠干和左、右腰干进行观察。结果　①乳糜池出现率为 2 2 %( 7/32 ) ,其中椭圆形 4例、三角形 3例。乳糜池长 ( 2 4± 6 )mm ,中间宽为 ( 4 1± 0 9)mm ,位于T12 ～L2椎体的右前方。②胸导管起始部外径为 ( 2 8± 0 7)mm ;左腰干和肠干先汇合成共干再与右腰干合并者为 9例 ( 36 % ) ;右腰干和肠干先汇合成共干再与左腰干合并者为 8例 ( 32 % )。③肠干长 ( 36± 15 )mm ,位于降主动脉左侧、左肾动脉的上、下方 ,经L2 椎体前方 ,在椎体右侧与左、右腰干汇合成共干 ,至乳糜池或胸导管。④左、右腰干的长度分别为 ( 10 7± 2 4 )mm和 ( 111± 18)mm ,起始端外径为( 1 7± 0 4 )mm和 ( 1 9± 0 4 )mm ,汇入处外径为 ( 2 2± 0 6 )mm和 ( 2 2± 0 5 )mm。结论　在腹部手术分离腹腔干、肠系膜上动脉根部及肠系膜下静脉末端时 ,应注意保护此手术区域内较大的淋巴管     

用复合液滴模型研究黏附于血管表面白细胞的变形性

用复合液滴模拟黏附于血管表面的白细胞,通过引入"变形指数",研究稳定剪切流动下白细胞及其细胞核发生的变形.结果表明,白细胞的变形随着初始接触角、外界流场雷诺数的增大而增大.虽然细胞核也能随白细胞的变形而变形,但其变形指数总是小于白细胞.因此,具有高黏性的细胞核在白细胞的变形过程中可能起到特殊作用.     

Ad/CMV-hTGF-β1 treats rabbit intervertebral discs degeneration<Emphasis Type="Italic">in vivo</Emphasis>

Summary  To investigate therapeutic efficiency of Ad/CMV-hTGF-β1 gene for rabbit intervertebral dise degeneration model. 60 Japanese white rabbits were selected to form the L5-L6 Anterior-Lateral-Anulus-Fibrosus-Incision-Induced model in order to simulate human intervertebral dise degeneration. 36 rabbits, whose corresponding intervertebral discs were injected with 20 μl (10×10⁶ pfu) of Ad CMV-hTGF-β1 gene, constituted the therapy group, 12 were injected with 20 μl (10×10⁶ pfu) of Ad CMV-LacZ gene as comparison group, while 12 were only injected with equivalent capacity of saline for empty comparison group, 3 weeks after injection, examples were taken for investigation of HE staining, MRI. Western Blotting and immunohistochemical research TGF-β1. Wide distribution of TGF-β1 was detected by immunohistochemical research in the degenerated annulus fibrosus after injection. Western Blotting research showed significant increase of TGF-β1 content in intervertebral dises treated with TGF-β1 gene than comparison groups. MRI signal transformed from low to comparatively high and that intervertebral dise pathological degree improved. Ad CMV-hTGF-β1 gene transfection is a potential method to increase TGF-β1 content and reverse intervertebral dise degeneration. ZHAN Zirui, male, born in 1970 Associate Professor The Project Sponsored by the Scientific Research Foundation for the Returned Overseas Chinese Scholars, Ministry of Education P.R.C. (No. [2001]345).