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Congenital adrenal hyperplasia. 先天性肾上腺增生。
Pub Date : 2000-05-01 DOI: 10.1002/9780470015902.A0002261.PUB2
M. New, L. Levine
The enzyme defects of steroidogenesis appear to be monogenic disorders. The clinical heterogeneity of these disorders suggests allelic variations at the loci for these disorders, as has been reported for other gentic inborn errors. When the genes for these enzymes are cloned and sequenced, the final proof of allelism will be obtained. Prenatal diagnosis of one of the enzyme defects is possible by biochemical and HLA studies of the amniotic fluid. In the others, DNA restriction fragment polymorphism may provide a tool in the future for prenatal diagnosis. Since all these disorders are compatible with normal intelligence and a productive life, the more frequent ones at least are worthy of screening for early diagnosis and treatment.
甾体生成酶缺陷表现为单基因性疾病。这些疾病的临床异质性表明这些疾病的等位基因变异,正如其他遗传先天性错误所报道的那样。当这些酶的基因被克隆和测序时,等位基因的最终证据将被获得。产前诊断的酶缺陷之一是可能的生化和HLA研究的羊水。另一方面,DNA限制性片段多态性可能为产前诊断提供一种工具。由于所有这些障碍都与正常的智力和富有成效的生活相兼容,至少更频繁的障碍值得进行筛查,以便早期诊断和治疗。
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引用次数: 11
Hormone toxicity in the newborn. 新生儿的激素毒性。
Pub Date : 1990-01-01 DOI: 10.1007/978-3-642-83794-4
F A Kincl
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引用次数: 2
Neurobiology of reproduction in the female rat. A fifty-year perspective. 雌性大鼠生殖的神经生物学。50年的展望。
Pub Date : 1989-01-01
J W Everett

With respect to the ovarian status and the estrous cycle as expressed by the vaginal cytology, it was emphasized that there is only a rough correspondence between the vaginal stages and the days of the cycle. The 4-day cycle tends to be the most frequent, with the 5-day cycle a normal variant. Spontaneous persistent vaginal estrus (SPE), an acyclic state occurring in older adult rats, reflects the presence in the ovaries of large vesicular follicles failing to luteinize and, hence, the absence of corpora lutea once the condition becomes well established. Pseudocyclic fluctuations in the vaginal smear during SPE resemble those in ovariectomized rats treated chronically with estrogen. The age of onset of SPE varies among different rat strains, appearing as early as 5 or 6 months in the DA and CD strains, but rarely before 12 months in the O-M strain. O-M/DA hybrids were intermediate. In the DA strain there was also a marked influence of length of daily illumination on the occurrence of SPE: exposure to 10 hours or less of light per day restored cycling to rats that had already shown SPE while exposed to longer days. An hereditary influence of age was also apparent in the rapidity with which continuous illumination induced persistent estrus (LLPE). Young DA females rapidly entered LLPE within 10 days, while young O-M females remained cyclic for 5 weeks. Hybrids again were intermediate. At middle age. O-M rats became as responsive as young rats of the DA strain. Like SPE in DA rats. LLPE was reversible, for estrous cycles returned after daily exposure to light was reduced. The special sensitivity of DA rats to lighting may have been a trait acquired from outcrossing with wild gray rats in years past. Normal cycling could be restored in SPE rats by daily injection of progesterone at low dosage. The same effect followed isolated treatments with progesterone upon return of proestrus/estrus after interruption of SPE. This was the first demonstration of positive feed-back of progesterone, the first sign of its biphasic action, and an indication that progesterone facilitates the action of estrogen in promoting ovulation. When progesterone treatment was delayed after proestrus/estrus there was progressively lower effectiveness during the next 10 days. Indirect support of regular ovulatory cycles resulted from treating DA SPE rats with prolactin (PRL) daily at low doses, provided that an initial set of corpora lutea was first induced by other means.(ABSTRACT TRUNCATED AT 400 WORDS)

关于阴道细胞学所表达的卵巢状态和发情周期,有人强调,阴道阶段和周期的天数之间只有粗略的对应关系。4天的周期往往是最频繁的,5天的周期是正常的变体。自发性持续阴道发情(SPE)是发生在老年成年大鼠中的一种非循环状态,反映了卵巢中存在的大水疱卵泡未能黄体化,因此,一旦这种情况确立,黄体就会消失。SPE期间阴道涂片的假周期波动与长期服用雌激素的去卵巢大鼠相似。不同大鼠品系SPE发病年龄不同,DA和CD品系早在5、6个月发病,而O-M品系很少在12个月前发病。O-M/DA杂交种为中间型。在DA菌株中,每日光照时间的长度对SPE的发生也有显著的影响:每天暴露在10小时或更少的光照下,可以使暴露在更长时间下已经出现SPE的大鼠恢复循环。年龄的遗传影响在持续光照诱导持续发情(LLPE)的速度上也很明显。年轻的DA雌性在10天内迅速进入LLPE,而年轻的O-M雌性在5周内保持周期性。杂交种也是中间的。到了中年。O-M大鼠的反应与DA菌株的年轻大鼠一样。比如DA大鼠的SPE。LLPE是可逆的,因为在减少每日光照后,发情周期恢复。DA大鼠对光线的特殊敏感性可能是多年来与野生灰鼠异交获得的特性。每日小剂量注射黄体酮可使SPE大鼠恢复正常循环。在SPE中断后恢复发情/发情后,用黄体酮单独治疗也有同样的效果。这是黄体酮的第一个正反馈的证明,是黄体酮双相作用的第一个迹象,也是黄体酮促进雌激素促排卵作用的一个迹象。当孕激素治疗在发情/发情后延迟时,在接下来的10天内,效果逐渐降低。在其他方法诱导初始黄体的前提下,每日低剂量催乳素(PRL)治疗DA SPE大鼠可间接支持正常的排卵周期。(摘要删节为400字)
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引用次数: 0
High-Performance Liquid Chromatography in Endocrinology 高效液相色谱在内分泌学中的应用
Pub Date : 1988-11-01 DOI: 10.1007/978-3-642-83467-7
H. Makin, R. Newton
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引用次数: 8
High-performance liquid chromatography of steroid hormones. 类固醇激素的高效液相色谱分析。
Pub Date : 1988-01-01 DOI: 10.1007/978-3-642-83467-7_7
H L Makin, E Heftmann

Although a considerable amount of work has been carried out in the last ten years in developing methods for the separation of steroids by HPLC, it is still not widespread for the reasons discussed above. There is however no doubt that further developments in HPLC technology, in increasing sensitivity and/or specificity of detection systems, perhaps with microbore columns, may lead to an increase in the use of this powerful analytical procedure as an additional separation method to improve specificity of assay. Solution of the problem of simple interfacing of HPLC systems with mass spectrometers (discussed in another chapter by Games) should further increase the application of HPLC. HPLC is of particular value in providing a means of separating unstable compounds prior to assay by relatively nonspecific quantitation methods. Most steroids do not fall into this category, but the steroid vitamin D and its metabolites do and HPLC has proved in this area to be invaluable (see chapter by Jones & DeLuca). There are a multiplicity of different HPLC systems for the separation of steroids, varying in column type (and manufacturer), solvent composition and method of elution, temperature of elution, etc., and only a few attempts have been made to rationalise these data. It would therefore seem that a fruitful area of future study would be the investigation of computerised systems for the selection and optimisation of HPLC systems for particular steroid separations.

尽管在过去的十年里,人们在开发类固醇的HPLC分离方法方面做了大量的工作,但由于上述原因,它仍然没有得到广泛应用。然而,毫无疑问,HPLC技术的进一步发展,在提高检测系统的灵敏度和/或特异性方面,可能会使用微孔柱,这可能会导致这种强大的分析方法的使用增加,作为一种额外的分离方法来提高测定的特异性。解决HPLC系统与质谱仪的简单接口问题(Games在另一章中讨论)将进一步增加HPLC的应用。在用相对非特异性的定量方法测定之前,高效液相色谱法在提供分离不稳定化合物的方法方面具有特殊的价值。大多数类固醇不属于这一类,但类固醇维生素D及其代谢物属于这一类,HPLC已经证明在这一领域是无价的(见Jones & DeLuca的章节)。有多种不同的高效液相色谱系统用于类固醇的分离,在柱型(和制造商)、溶剂组成和洗脱方法、洗脱温度等方面各不相同,并且只有很少的尝试使这些数据合理化。因此,未来研究的一个富有成效的领域似乎是研究计算机化系统,以选择和优化用于特定类固醇分离的HPLC系统。
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引用次数: 10
High-performance liquid chromatography of gastrointestinal hormones. 胃肠激素的高效液相色谱分析。
Pub Date : 1988-01-01 DOI: 10.1007/978-3-642-83467-7_6
C Selden, P N Maton, V S Chadwick
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引用次数: 0
Regulation of Aldosterone Biosynthesis 醛固酮生物合成的调控
Pub Date : 1988-01-01 DOI: 10.1007/978-3-642-83120-1
Prof. Dr. med. Jürg Müller
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引用次数: 0
The mass spectrometer as a detector for high-performance liquid chromatography: problems of interfacing. 质谱计作为高效液相色谱检测器:界面问题。
Pub Date : 1988-01-01 DOI: 10.1007/978-3-642-83467-7_8
D E Games, E D Ramsey
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引用次数: 1
High-performance liquid chromatography of catecholamines and their metabolites in biological material. 生物材料中儿茶酚胺及其代谢物的高效液相色谱分析。
Pub Date : 1988-01-01 DOI: 10.1007/978-3-642-83467-7_2
S Allenmark
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引用次数: 7
High-performance liquid chromatography of vitamin D and its application to endocrinology. 维生素D的高效液相色谱分析及其在内分泌学中的应用。
Pub Date : 1988-01-01 DOI: 10.1007/978-3-642-83467-7_4
G Jones, H F DeLuca
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引用次数: 6
期刊
Monographs on endocrinology
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