Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric acid...
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):395-6.Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.1, , , , , , , , , , , , , , , , , , , , .1Clinical Biology Unit, Medical Genetics Institute, Porto, Portugal. laura.vilarinho@igm.min-saude.ptAbstractWe studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydroxyglutaric acid in body fluids proved the diagnosis of L-2-HGA in all 21 patients. We analyzed the L-2-HGA gene (L2HGDH), recently found to be mutated in consanguineous families with L-2-HGA, and identified seven novel mutations in 15 families. Three mutations appeared to be particularly prevalent in this Portuguese panel: a frameshift mutation (c.529delC) was detected in 12 out of 30 mutant alleles (40%), a nonsense mutation (c.208C&T; p.Arg70X) in 7/30 alleles (23%), and a missense mutation (c.293A&G; p.His98Arg) in four out of 30 mutant alleles (13%), suggesting that common origin may exist. Furthermore, two novel missense (c.169G&A; p.Gly57Arg, c.1301A&C; p.His434Pro) and two splice error (c.257-2A&G, c.907-2A&G) mutations were found. All the mutations presumably lead to loss-of-function with no relationship between clinical signs, progression of the disease, levels of L-2-HGA and site of the mutation. In the three remaining families, no pathogenic mutations in the L-2-HGA were found, which suggests either alterations in regulatory regions of the gene or of its intervening sequences, compound heterozygosity for large genomic deletion and, or further genetic heterogeneity.(c) 2005 Wiley-Liss, Inc.PMID:
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External link. Please review our .Topography of Gng2- and NetrinG2-expression suggests an insular ori...
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):e44745. doi: 10.1371/journal.pone.0044745. Epub
2012 Sep 5.Topography of Gng2- and NetrinG2-expression suggests an insular origin of the human claustrum.1, , , , , , , .1Department of Physiological Science, University of Pisa, Pisa, Italy.AbstractThe claustrum has been described in the forebrain of all mammals studied so far. It has been suggested that the claustrum plays a role in the integration of multisensory information: however, its detailed structure and function remain enigmatic. The human claustrum is a thin, irregular, sheet of grey matter located between the inner surface of the insular cortex and the outer surface of the putamen. Recently, the G-protein gamma2 subunit (Gng2) was proposed as a specific claustrum marker in the rat, and used to better delineate its anatomical boundaries and connections. Additional claustral markers proposed in mammals include Netrin-G2 in the monkey and latexin in the cat. Here we report the expression and distribution of Gng2 and Netrin-G2 in human post-mortem samples of the claustrum and adjacent structures. Gng2 immunoreactivity was detected in the neuropil of the claustrum and of the insular cortex but not in the putamen. A faint labelling was present also in the external and extreme capsules. Double-labelling experiments indicate that Gng2 is also expressed in glial cells. Netrin-G2 labelling was seen in neuronal cell bodies throughout the claustrum and the insular cortex but not in the medially adjacent putamen. No latexin immunoreactive element was detected in the claustrum or adjacent structures. Our results confirm that both the Gng2 and the Netrin-G2 proteins show an affinity to the claustrum and related formations also in the human brain. The presence of Gng2 and Netrin-G2 immunoreactive elements in the insular cortex, but not in the putamen, suggests a possible common ontogeny of the claustrum and insula.PMID:
[PubMed - indexed for MEDLINE] PMCID: PMC3434180 Photographs of a coronal section of a post-mortem specimen (left) and a Luxol fast blue stained section (right) showing the anatomical correlation between the claustrum (cl) and the adjacent structures. pu, ic, ex, ext, extreme capsule. Scale bar, 1 mm.PLoS One. ):e44745.(A) Low magnification image. (a–e) Higher magnification images of A correspond to the dorsal claustrum (a), the ventral claustrum (b), the insular cortex (c), the putamen (d) and the VI layer of the insula (e). Scale bar
= 1 mm (A), 50 um (a–e).PLoS One. ):e44745.(A, B) Low magnification images. (a, b) Higher magnification images of A and B correspond to (a) the external capsule (ex) and (b) to the extreme capsule (ext). pu, ic, cl, claustrum. Scale bar
= 200 um (A, B), 50 um (a, b).PLoS One. ):e44745.Gng2 identified by anti-rabbit antiserum conjugated with FITC (a), GFAP identified by anti-mouse antiserum conjugated with TRITC (b); merge image (c) shows co-localization of the two substances. Scale bar
= 10 um.PLoS One. ):e44745.(A) Low magnification image. (a, b) Higher magnification images of A correspond to the dorsal claustrum (a), the ventral claustrum (b). Scale bar
= 1 mm (A), 50 um (a, b).PLoS One. ):e44745.Positive perikarya in the claustrum (a, b) and in the insular cortex (c, d). No immunoreactivity was seen in the putamen (e, f). Scale bars
= 50 um.PLoS One. ):e44745.MeSH TermsSubstancesFull Text SourcesOther Literature SourcesMiscellaneous
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舒适配置较丰富
空间较大满员不拥挤
内饰塑料感较强
后视镜电动折叠
倒车视频影像
蓝牙/车载电话
GPS导航系统
中控台彩色大屏
座椅按摩/通风
真皮方向盘
厂商指导价
全国最低价
车内空间光看轴距不靠谱
身高180cm坐在前排，头部空间至少要950mm。
成年人肩宽420mm，后排座椅宽度至少在1260mm以上，坐3个人才不会拥挤。
单说前排或后排空间没有意义，因为座椅可调，满员乘坐时空间大小才有价值。
前排头部：适中
后排头部：适中
车内满员：适中
后排满员：适中
前排头部空间压抑吗？适中头部空间：970mm前排头部空间极少不够用，但此处空间小会影响驾乘舒适性，部分车型可通过调节座椅高度来满足头部空间。
后排头部空间够大吗？适中头部空间：910mm后排头部空间小并不会导致坐不下，但会限制乘客坐姿，影响舒适度。
满员乘坐都能伸得开腿吗？适中前排腿部空间：870-1075mm后排腿部空间：650-895mm前排腿部空间不会局促，因为座椅前后可调。但当前后排同时坐人时，它会成为一个影响舒适性的重要因素。
后排坐3个人挤吗？适中后排座椅宽度：1320mm一般成年人肩宽420mm，后排宽度在1260mm以下会有些拥挤。地板凸起也会影响后排中间乘客的乘坐舒适性。
过沟过坎颠吗？坑洼路面颠簸明显悬挂类型会对行驶舒适性有影响，减震软且迅速恢复平稳是优秀悬挂的两点必备特性。
座椅坐着舒服吗？支撑良好 长途不易疲劳座椅设计存在人体工程学差异，如久坐是否腰酸背疼，支撑和包裹是否到位，这对消费者尤为重要。
花10万买车，要花20万养养车费用包括燃油、保养以及保险。
以10万元车为例，10年内养车费用超过20万。关注养车费用就是关心自己的钱包。
油费占养车费60%以上
仅供参考，不支持个例计算
油耗均采集于真实车主。
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年均总费用：2.49&万
燃油：12,694&元保险：8,502&元保养：3,718&元
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