假性软骨发育不全的临床影像学分析

目的:提高对假性软骨发育不全的临床表现及影像特征的认识?方法:分析9例假性软骨发育不全的影像表现,并结合临床表现和有关文献,对其影像特征进行描述?结果:X线表现9例椎体均似“横置的花瓶状”,四肢管状骨均可见对称性粗短变形,干骺端增宽,侧缘刺状突出,骨骺细小呈碎裂样,且被干骺端包埋;8例骨盆发育均偏小,坐骨大切迹稍窄,髋臼顶扁平,边缘不规则;8例肋骨前后端呈“括弧征”?结论:假性软骨发育不全是一种常染色体显性或隐性遗传性软骨发育障碍性疾病,一般于2~4岁发病,头颅正常?短肢型侏儒,骨骺小?不规则或呈碎裂状?干骺增宽及结构不规则,这些均是该病的诊断要点?本病应与软骨发育不全等其他软骨发育障碍性疾病相鉴别?     

软骨发育不全性侏儒症患者麻醉管理一例

患者,男,53岁,身高131cm,体重51kg,ASA Ⅱ级,因双侧输尿管结石入院。术前访视患者为侏儒体型,头颅大小、躯干长度均似成人,四肢短小,下半身显著短于上半身,脊柱腰段前凸,间隙不清晰。智力发育正常,诊断为软骨发育不全性侏儒症。患者术前检查均未见明显异常,否认高血压、糖尿病病史;颈短,Mallampatic Ⅲ级,张口度约三横指,可下牙反咬合上牙。拟在全麻下行输尿管镜气压弹道碎石术。术前静脉给予地塞米松10mg、盐酸戊乙奎醚0.5mg。     

别把垂体性侏儒误认为是发育晚

来自山东聊城市的10周岁男孩周园林，在全班同学中身材最矮但其学习成绩平均每门均在90分以上。家长以为是孩子发育晚，所以一直未到医院看大夫。在其亲戚劝说下，周园林的母亲带孩子慕名到山东省立医院小儿内分泌科就诊，留美学者李桂梅博士通过询问病史、查体得知：患儿出生时臀先露．有难产史，生后体重3．5公斤。身高112厘米，体重18．5公斤，中度贫血貌，面容幼稚，腹脂堆积，阴茎、睾丸均小，阴囊发育不良。血红蛋白75克／升（中度贫血），核磁共振显示垂体发育不良。甲状腺功能略低、性激素显著降低、生长激素刺激实验峰值显著降低，最后诊断为“全垂体功能降低，继发性贫血”。     

Laron侏儒的研究进展

Ｌａｒｏｎ侏儒是Ｌａｒｏｎ等于１９６６年首先报道的一种临床综合征，该症的发现促进了生长激素受体、受体后机理的研究。本文简述此症的基础与临床研究的进展。     

遗传性侏儒及其鉴别诊断

遗传性侏儒常见的有软骨发育不全(achondrop lasia,ACH,M IM 100800)、软骨发育低下(hypochondrop lasia,HCH,M IM 146000)、致死性侏儒(thanatophoric dysp lasia,TD,M IM187600)、假性软骨发育不全(pseudoachondrop lasia,PSACH,M IM 177170)和多发性骨骺发育不全(mu ltip le     

白内障、侏儒、多指及膝外翻,一种新的综合征?

患者,男,39岁,具有白内障和侏儒、早老症、多指及膝外翻等症状,双眼行白内障摘除+人工晶状体植入术后视力有所提高。眼底检查未见异常改变,因这些症状不符合以往已知的一些眼病综合征,我们推测其为一种新的眼科综合征。     

生长激素和胰岛素样生长因子1在Lewis侏儒模型大鼠颞叶皮质中的表达

BACKGROUND:Insulin-like growth factor-1(IGF-1), a main active factor in growth hormone (GH), plays various biological functions, such as improving cognitive ability and anti-apoptotic action. OBJECTIVE:To detect the expressions of GH and IGF-1 in the temporal cortex of Lewis dwarf rats, and to explore the effect of different concentrations of GH on the differentiation of hippocampal nerve stem cells (NSCs). METHODS:Lewis dwarf rats aged 11(adult) and 20 (senile) month olds and normal wild-type rats were euthanized by decapitation, underwent the craniotomy quickly, and the temporal cortex in the cold saline was extracted. GH and IGF-1 levels were detected using western blotting. After isolation, purification and identification of the rat hippocampal NSCs, the effect of GH in different concentrations (10, 30, 90 μg/L) on the NSCs differentiation was determined at 96 hours after culture. RESULTS AND CONCLUSION:The GH level in the temporal cortex did not differ significantly among rats (P > 0.05). While the IGF-I level in the temporal cortex of Lewis dwarf rats was significantly higher than that of the wild-type rats (P < 0.05). The GH level in the temporal cortex of adult female Lewis dwarf rats was significantly lower than that of the male rats (P < 0.05). Immunofluorescence showed that the proportion of β III-tubulin-positive neurons was significantly higher than that in the control group (P < 0.05) after the hippocampal NSCs and precursor cells cultured for 96 hours with GH (30 μg/L), but there was no significant difference between the control group and treatment group with GH of 10 or 90 μg/L. These results suggest that GH and IGF-I are expressed in the temporal cortex of both Lewis dwarf and wild-type rats which are independent from pituitary GH and the peripheral circulating IGF-1. Additionally, GH can promote the differentiation of hippocampal NSCs and precursor cells into neurons. 中国组织工程研究杂志出版内容重点：组织构建;骨细胞;软骨细胞;细胞培养;成纤维细胞;血管内皮细胞;骨质疏松;组织工程     

超声诊断胎儿致死性侏儒1例

1临床资料 孕妇40岁,G1P0,孕22周,平素月经规则23天,LMP09／4．22,停经后一个多月出现恶心、呕吐等早孕反应,早孕期有感冒、发热史（曾服三精口服液,其他不祥）。婚后多年未孕。停经近5个月初感胎动,此次常规超声检查。     

人胚腺垂体细胞移植治疗垂体性侏儒17例

自1994年3月份以来,我科为17例垂体性侏儒患者做了人胚腺垂体细胞移植手术。术后患者的生长激素水平、身高均有不同程度的增长,现报告如下。 材料和方法 一、临床资料 17例患者,除3例外,其余均为男性。年龄平均为15岁(10～24岁),身高平均为122.17±9.64cm(10.33～137.5cm),