Neu–Laxova syndrome: a case report and review of the literature

Neu-Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain development, oedema and ichthyosis. It was first reported in 1971 by Neu et al. (Pediatrics 47: 610-612) and since then no more than 60 cases have been reported. A newborn girl delivered from a 29-year-old healthy mother was admitted to hospital with a thick membrane covering her body and dismorphic appearance. The diagnosis of NLS was made according to characteristic features. The syndrome is known to have a poor prognosis and the baby lived for 9 weeks. This case is one of the longest living cases of NLS and the fourth case reported from Turkey.     

Prevalence of vitamin D depletion among morbidly obese patients seeking gastric bypass surgery

BACKGROUND: Abnormalities in calcium and vitamin D metabolism have been reported after bariatric surgery. The purpose of this study was to evaluate vitamin D nutritional status among morbidly obese patients before gastric bypass surgery. METHODS: We prospectively studied 279 morbidly obese patients seeking gastric bypass surgery for vitamin D nutritional status as assessed by serum 25-hydroxyvitamin D level. In addition, serum samples were analyzed for calcium, alkaline phosphatase (AP), intact parathyroid hormone (PTH), and 1,25-dihydroxyvitamin D. RESULTS: Mean patient age was 43 +/- 9 years; 87% of the study patients were women, and 72% were white. Serum calcium and AP levels were normal in 88% and 89% of the patients, respectively. Vitamin D depletion, defined as serum 25-hydroxyvitamin D level 相似文献   

胰岛素样生长因子结合蛋白、内毒素与肝纤维化

目前胰岛素样生长因子结合蛋白（insulin—like growth—factor—binding protein，IGFBPs）及其超家族功能的研究是国际上的热点。有研究表明IGFBPs与肝纤维化的发生有关，而临床检测和动物实验表明肠源性内毒素血症与肝纤维化的发生发展有着密切关系，同时有研究显示内毒素可诱导循环中某些IGFBPs和其肝脏基因的表达发生变化。     

Bone and joint alterations in acromegaly

Growth hormone (GH) is fundamental for the maintenance of bone mass and metabolism both during childhood and in adulthood. This effect is due to a complex interaction between circulating GH and IGF-I produced peripherally. In vitro data and experimental animal models have clarified many of the regulatory mechanisms underlying the characteristic skeletal changes occurring in acromegaly. This review focuses on the effects of GH excess on bone metabolism and mass in acromegalic patients and, in particular, on the influence of factors such as hypogonadism, gender, age and therapy on bone metabolism and arthropathy.     

血管内皮生长因子及炎性因子在油酸性犬急性呼吸窘迫综合征中的变化

目的探讨油酸性急性呼吸窘迫综合征（ARDS）beagle犬血浆及肺泡灌洗液血管内皮生长因子（VEGF）、可溶性细胞间黏附分子-1（ICAM-1）、白细胞介素-8（IL-8）、肿瘤坏死因子-α（TNF—α）水平的改变。方法12只英国纯种beagle犬，静脉注射油酸0．15mL／kg，在注射油酸前、后1h，出现ARDS的典型表现时，抽血测VEGF、sICAM-1、IL-8、TNF—α，并对此时相作肺泡灌洗液VEGF、sICAM—1、IL-8、TNF-α的测定。结果beagle犬静脉注射油酸后1h血浆TNF—α升高（P〈0．05），血浆反肺泡灌洗液IL8、sICAM-1和VEGF在1h较油酸前没有明显变化（P〉0．05），beagle犬油酸型ARDS模型建立后血浆及肺泡灌洗液VECF、sICAM-1、IL-8、TNF—α均显著高于建模前（P〈0．05）。结论VEGF、sICAM-1、IL-8、TNF～α在beagle犬油酸型ARDS发生发展过程中可能均起重要作用，其水平的高低可能与ARDS严重程度及预后有关。     

早期联用MEP和大剂量rhGH对严重烫伤大鼠肠源性感染的影响

目的探讨早期联用美罗培南(MEP)和大剂量重组人生长激素(rhGH)对严重烫伤免疫抑制大鼠肠源性感染的影响。方法Wistar大鼠54只随机分为对照组、烧伤组和治疗组(C1组、C2组、C3组),后两大组制成25%总体表面积(TBSA)Ⅲ°烫伤免疫抑制模型,伤后2h给予rhGH1.33IU/kg、MEP20mg/kg,伤后8、24h检测门静脉血清内毒素(LPS)、腔静脉血清肿瘤坏死因子-α(TNF-α)含量,肝功能变化和肠道细菌移位率。结果C3(MEP+rhGH治疗)组LPS和TNF-α含量均显著低于其他组(P<0.01),与对照组差异无统计学意义(P>0.05),C3组未发现肠道细菌移位且肝功能检测指标显著低于其他组(P<0.01),与对照组差异无统计学意义(P>0.05)。结论早期联用MEP和rhGH治疗严重烫伤免疫抑制大鼠能显著减轻或防止肠道细菌/内毒素移位,减少炎症介质释放,保护脏器功能。     

高转换型肾性骨病中骨保护素及其配体的表达和形态计量学观察

目的 观察高转换型肾性骨病中骨保护素及其配体 (OPG，RANKL)的表达，并与骨形态计量学指标进行相关分析。 方法 选择10例慢性肾衰尿毒症患者和3例正常人进行髂骨活检术，获得骨组织标本。采用免疫组化方法检测OPG和RANKL蛋白质的表达。采用全自动图像分析系统进行骨组织形态计量学测定。结果 10例慢性肾衰尿毒症患者经骨病理学检查证实均为高转换型骨病，以破骨细胞活化形成骨吸收陷窝伴或不伴骨矿化不全为特点。免疫组化显示尿毒症患者骨组织中以RANKL阳性表达为主。与正常对照相比，RANKL阳性表达细胞数目显著增加，OPG阳性表达细胞数目显著减少。尿毒症患者RANKL的阳性表达细胞数目与骨吸收面积和破骨细胞数目呈显著正相关。结论 高转换型肾性骨病中，PTH的溶骨作用可能是通过OPG/RANKL/RANK系统介导的。     

人精子体外氧化损伤对线粒体tRNA~(LeuUUR)基因的影响

目的:探讨活性氧(ROS)对人类精子线粒体tRNALeuUUR基因的氧化损伤。方法:采用Percoll梯度离心法筛选具有正常生理功能的精子,作为正常精子模型,并分为损伤组20例和对照组20例,分别加入次黄嘌呤-黄嘌呤氧化酶体系或不予处理,37℃有氧环境中孵育60min。分别提取精子DNA,以Fpg酶切损伤碱基并采用接头介导PCR(LM-PCR)检测线粒体tRNALeuUUR基因的氧化损伤。采用Rhodamine(Rh123)荧光探针标记精子,通过流式细胞仪检测线粒体膜电位,观察精子的功能。结果:与对照组相比,损伤组精子孵育后线粒体膜电位明显降低[(116.27±11.72)%vs(64.00±4.88)%,P<0.05]。Fpg酶切和LM-PCR显示精子线粒体tRNALeuUUR基因损伤。结论:ROS可能通过对精子线粒体tRNALeuUUR基因氧化损伤而影响精子功能(线粒体膜电位明显降低),从而引起不育。     

关于抑制素的回顾与展望

1923年,随着生殖腺反馈调节垂体功能的概念的提出,关于抑制素的研究开始了。抑制素是一种非类固醇类物质,能够抑制垂体细胞的活性。1932年,这种物质在水状的睾丸提取物中得到证实,并被命名为抑制素。又经过了50多年的研究,到1985年,抑制素才被纯化和克隆。而直到化验技术的进步使人和动物的循环浓度得以分析,抑制素的生理活性的揭示才得以完成。本文综述抑制素的历史、生理作用及其在辅助生殖技术中的最新的应用和研究。