瘦素启动青春发育的研究进展

瘦素（LEP）是由脂肪细胞分泌的一种多肽激素，LEP作为脂肪组织 中枢神经网络联系的代谢信号参与哺乳动物青春发育启动的调节机制。研究证实青舂育前期血LEP水平升高可能是一种允许信号。LEP启动青春发育可能的机制；（1）神经内分泌作用机制，其中神经肽Y，N端－原阿片黑皮素，一氧化氮可能是LEP重要的介导因子。（2）LEP可以部分解除吗啡对促性腺激素释放激素脉冲发生器电释放的抑制。（3）LEP亦可能通过LEP受体直接作用于促性腺激素释放激素神经元。目前LEP在青春发育启动中的意义及作用机制仍有待进一步探讨。     

瘦素启动青春发育的研究进展

瘦素 (LEP)是由脂肪细胞分泌的一种多肽激素 ,LEP作为脂肪组织和中枢神经网络联系的代谢信号参与哺乳动物青春发育启动的调节机制。研究证实青春发育前期血LEP水平升高可能是一种允许信号。LEP启动青春发育可能的机制 :(1)神经内分泌作用机制 ,其中神经肽Y、N端 原阿片黑皮素、一氧化氮可能是LEP重要的介导因子。 (2 )LEP可以部分解除吗啡对促性腺激素释放激素脉冲发生器电释放的抑制。 (3)LEP亦可能通过LEP受体直接作用于促性腺激素释放激素神经元。目前LEP在青春发育启动中的意义及作用机制仍有待进一步探讨     

单中心11例青春期及成人早老症临床与基因特征分析

目的探讨早老症的临床表现及基因特征。方法收集北京协和医院2012年8月至2023年6月住院的11例早老症患者, 提取相关临床资料, 包括青春发育情况、糖代谢、脂代谢及既往心血管病变(动脉粥样硬化、心律失常、瓣膜病、心肌病)和治疗情况。分析早老症患者的早期临床表现及基因突变特征、实验室检查、青春发育状况, 并对患者的糖脂代谢及心血管疾病进行评估。结果 11例患者中, 女性7例、男性4例, 起病中位年龄3岁(1例为成人起病, 其余为出生时或儿童青少年起病)。11例患者中半数以上有不同程度青春发育延迟, 大部分患者有糖脂代谢异常, 以胰岛素抵抗和低高密度脂蛋白胆固醇血症表现突出。心血管病变多见, 3例患者为心肌广泛病变致心力衰竭, 3例患者出现快速型或缓慢型心律失常, 2例患者有动脉粥样硬化。5例患者完善基因检测, 4例为核纤层蛋白A/C(LMNA)基因突变, 均为非典型突变位点, 分别为c.139G>T、c.1444C>A、c.398G>T、c.1045C>T, 其中c.1444C>A尚未被报道;1例为RecQ3解旋酶(WRN)基因c.3913C>T突变...     

重组人生长激素治疗对青春发育后期女孩身高的影响

以重组人生长激素(rhGH)治疗12例青春发育后期女孩(年龄11～13岁)6个月，每日0．10～0．12IU／kg rhGH治疗提高了他们的身高生长。     

骨钙素对青春发育的作用

骨钙素影响睾酮的合成与分泌,因而亦会对男性青春发育的各方面产生影响,如性腺发育、精细胞凋亡及生长激增等,其在间质细胞上的相关受体及下游信号通路已得到了初步阐明.但尚未有证据支持骨钙素会对女性青春发育产生影响.同时,骨骼-睾丸正反馈系统的提出,对传统的下丘脑-垂体-性腺轴系统进行了补充,也为青春期相关疾病的研究和治疗提供了新的思路.     

LHRH兴奋试验早期鉴别诊断青少年的体质性青春发育延迟和男性低促性腺激素性功能低减的价值

目的　以LHRH兴奋试验鉴别诊断体质性青春发育延迟 (constitu tionaldelayedpuberty ,CDP)和男性低促性腺激素性性功能低减 (hypogonadotropichypogonadism ,HH)。 方法　所有患者试验时均处于生殖发育第Ⅰ期 ,试验时给患者静脉注射LHRH 10 0 μg ,分别于 -15、0、15、3 0、45、60、90及 12 0min取血 3毫升 ,用放免法测定血清黄体生成素 (LH)和促卵泡激素 (FSH )水平。此后患者在门诊每 3～ 2 4个月随诊一次 ,一直追查到 18岁以后即至确诊有无正常青春发育后为止。根据其青春发育情况将患者分为青春发育正常组 (n =3 4) ,CDP组 (n =16)及HH组 (n =3 1)。 3组患者接受LHRH兴奋试验的年龄分别为 ( 10 .2± 0 .9)岁 ( 9～ 14岁 ) ,( 16.0± 1.0 )岁 ( 14～ 18岁 )和 ( 17.1± 1.4)岁 ( 16～ 2 2岁 )。结果　正常组 ,CDP组和HH组血清LH基础值和达峰时间均无差异 ,而血清LH峰值 ,血清LH峰值与基础值间的差值即血清LH增加值 ,血清LH增加倍数及血清LH曲线下面积 (AUCLH) ,正常组均明显高于CDP组和HH组 (P均 <0 .0 0 1) ,CDP组也明显高于HH组 (P均 <0 .0 0 1)。在 3组受试者中 ,分别绘制血清LH峰值、LH增加值对LHRH兴奋试验的工作特性曲线 (ROC) ,根据ROC可以确定以下两指标的切点 :血清LH峰值 8IU/L ,血清LH增     

癫痫诊断分类进展的几个重点方面

癫痫是由脑神经元异常过度放电引起的、以反复发作神经系统功能异常为特征的慢性脑部疾患。癫痫不是一个独立的疾病，而是一组疾病和综合征的统称，其分类始终是临床医生关心的问题，临床意义重大。近年来，随着一些新的电生理技术及功能影像、分子生物学等先进技术的应用，癫痫的有关研究有了飞速的进步，其症状学、病因、病理机理及诊断、治疗等方面的内容都有明显的更新和丰富。2001年，Engle教授总结了国际抗癫痫联盟执委会数年的工作，提出了对癫痫的诊断和分类新建议，使癫痫的诊断更趋于完善，对临床癫痫的诊断有重要影响。     

曲普瑞林兴奋试验用于评价女性下丘脑-垂体-性腺轴功能研究

目的探讨黄体生成素释放激素(LHRH)类似物(曲普瑞林)兴奋试验在评价女性下丘脑-垂体-性腺轴(HPGA)功能中的价值及安全性。方法 2007年1月至2009年12月在北京协和医院内分泌科进行研究:(1)对30例育龄期女性行曲普瑞林兴奋试验,肌注曲普瑞林100μg后,在0、15、30、45、60、90 min测定血卵泡刺激素(FSH)和黄体生成激素(LH)水平,摸索其变化规律和峰值时间;(2)对79例女性性腺疾病患者行曲普瑞林兴奋试验,并随访直至确诊。分析不同疾病中LH峰值水平和诊断之间的相关性,评价兴奋试验在疾病诊断和治疗中的价值。结果 (1)育龄期女性,LH峰值在肌肉注射曲普瑞林后60～90 min出现。(2)80%的全垂体前叶功能减退症患者(10例)、100%的单纯乳房发育患者(12例)、100%的外源性雌激素导致假性性早熟患者(6例)、100%的低促性腺激素性性腺功能减退症患者(5例)和100%因真性性早熟接受GnRH类似物治疗的患者(11例),LH峰值均<6 U/L;100%真性性早熟患者(16例)和青春发育后(30例)的患者,LH峰值均>6 U/L,其中85%的青春发育后的女性,LH峰值>18 U/L。(3)试验过程中未发现局部和全身不良反应。结论曲普瑞林兴奋试验可用于评价不同生理和病理状态下女性患者的下丘脑-垂体-性腺轴功能,有助于性早熟等疾病的鉴别诊断和疗效评价,且安全性好。LH峰值>6 U/L可作为下丘脑-垂体-性腺轴功能开始启动的判断指标;而LH峰值>18 U/L,可作为性成熟女性下丘脑-垂体-性腺轴功能正常的指标。     

Hypothalamo-hypophyseo-gonad system function in boys with an abnormal puberty syndrome

The blood basal testosterone-, LH-, FSH levels, 17-CS and 17-HOCS excretion with the urine, circadian rhythms of testosterone-, LH- and FSH secretion were studied in 21 boys, aged 11 to 13 years, with abnormal puberty, manifesting in pronounced sexual hirsutism in the presence of infantile testicles. Functional tests, using chorionic gonadotropin, clomiphene citrate and spironolactone, were performed, as well. The blood level of testosterone and the change in its circadian secretion were markedly reduced in all the subjects under examination. 17-CS excretion with the urine was within normal, whereas that of 17-HOCS was increased, indicating the intensified adrenal functional activity. The study of the blood gonadotropic hormone basal level and circadian rhythms, as well as of the hypophyseal functional reserves revealed diverse changes in LH and FSH production, i.e. a high activity of the hypophyseal LH function and low FSH secretion were noted. The pathogenetic mechanisms of disturbed maturation in abnormal puberty are discussed.     

Evolution, development and timing of puberty.

The age of menarche has fallen as child health has improved. Although there is ample evidence of delayed puberty being associated with poorer childhood nutrition, menarche is also influenced by prenatal factors. In particular, early onset of puberty is reported in children who have migrated from developing to developed countries. Evolutionary perspectives suggest that these effects can be explained by adaptive mechanisms. They also provide an explanation for the human pubertal growth spurt. In the past few decades, as puberty has advanced, biological maturation has come to precede psychosocial maturation significantly for the first time in our evolutionary history Although this developmental mismatch has considerable societal implications, care has to be taken not to medicalize contemporary early puberty inappropriately.     

Learning problems, delayed development, and puberty

Language-based learning disorders such as dyslexia affect millions of people, but there is little agreement as to their cause. New evidence from behavioral measures of the ability to hear tones in the presence of background noise indicates that the brains of affected individuals develop more slowly than those of their unaffected counterparts. In addition, it seems that brain changes occurring at approximately 10 years of age, presumably associated with puberty, may prematurely halt this slower-than-normal development when improvements would normally continue into adolescence. The combination of these ideas can account for a wide range of previous results, suggesting that delayed brain development, and its interaction with puberty, may be key factors contributing to learning problems.     

Role of abnormal lipid metabolism in development,progression, diagnosis and therapy of pancreatic cancer

There is growing evidence that metabolic alterations play an important role in cancer development and progression. The metabolism of cancer cells is reprogrammed in order to support their rapid proliferation. Elevated fatty acid synthesis is one of the most important aberrations of cancer cell metabolism. An enhancement of fatty acids synthesis is required both for carcinogenesis and cancer cell survival, as inhibition of key lipogenic enzymes slows down the growth of tumor cells and impairs their survival. Based on the data that serum fatty acid synthase (FASN), also known as oncoantigen 519, is elevated in patients with certain types of cancer, its serum level was proposed as a marker of neoplasia. This review aims to demonstrate the changes in lipid metabolism and other metabolic processes associated with lipid metabolism in pancreatic ductal adenocarcinoma (PDAC), the most common pancreatic neoplasm, characterized by high mortality. We also addressed the influence of some oncogenic factors and tumor suppressors on pancreatic cancer cell metabolism. Additionally the review discusses the potential role of elevated lipid synthesis in diagnosis and treatment of pancreatic cancer. In particular, FASN is a viable candidate for indicator of pathologic state, marker of neoplasia, as well as, pharmacological treatment target in pancreatic cancer. Recent research showed that, in addition to lipogenesis, certain cancer cells can use fatty acids from circulation, derived from diet (chylomicrons), synthesized in liver, or released from adipose tissue for their growth. Thus, the interactions between de novo lipogenesis and uptake of fatty acids from circulation by PDAC cells require further investigation.     

Classification and diagnosis of pulmonary hypertension

Pulmonary hypertension has been classified into five major subgroups in order to better understand and apply knowledge from the areas of molecular biology, pathophysiology and clinical science. Accurate classification of the patient not only optimizes diagnostic approach but also confers the best benefit, as therapeutic approaches are applied accurately. Current diagnostic strategies begin with a detailed history and physical, which are directed to elucidate symptoms that may increase the degree of suspicion. Subsequent application of a logical approach to progress through the diagnostic algorithm, with understanding of the complexity of this process, allows for best possible outcomes. Proper diagnosis and classification will eventually increase the potential for appropriate research and progress toward of a possible cure for this fatal disease.     

黄疸的分类及鉴别诊断

黄疸为一常见的临床表现，系由于胆红素代谢障碍引起的血清胆红素浓度升高(17μmol／L)，导致皮肤、黏膜和巩膜发黄。当血清胆红素介于17～34μmol／L时，可无皮肤、巩膜的黄染，称为隐性黄疸。