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1.
We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (growth and severe mental retardation, cranial and facial dysmorphism, complete syndactyly of fingers 3/4, partial syndactyly of toes 2/3) and facial but no body asymmetry. At the age of 5 months central hypothyroidism and precocious puberty were diagnosed. Thin pigmented streaks were visible on the wrists and legs of the patient at the age of 16 months. This is the first patient reported so far with 46,XX/69,XXX mixoploidy suffering from hypothyroidism and precocious puberty. 相似文献
2.
This report contains the experience of our centre, using the transvaginally guided puncture procedure, to reduce the number of fetuses in a multifetal pregnancy to a lower number. The aim of the procedure was to improve perinatal outcome and/or to meet the personal desires of patients and their families. We surveyed 148 multifetal pregnancy reductions. The fetus or fetuses overlying the internal os was most commonly reduced. The total uncorrected loss of the entire pregnancy was 13.4%. The corrected pregnancy loss was 11%. Of the 63 twins left after the reduction, 33 delivered preterm. Of the 36 singletons, two delivered preterm. Our conclusion was that multifetal pregnancy reduction is a safe procedure for the mother and has an acceptable loss rate of the entire pregnancy. The reduction of a fetus overlying the internal os by the transvaginal puncture procedure seems to yield results at least as good as the transabdominally performed puncture procedures for multifetal pregnancy reduction. 相似文献
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TV Martyniuk IE Chazova VP Masenko VN Volkov IuN Belenkov 《Canadian Metallurgical Quarterly》1998,70(4):33-36
AIM: Assessment of RAAS and vasopressin in patients with primary pulmonary hypertension (PPH). MATERIALS AND METHODS: Activity of plasma renin (APR), angiotensin-converting enzyme (ACE), plasma levels of angiotensin II (AII) and vasopressin (VP), serum concentration of aldosteron (AS) were measured by radioimmunoassay and enzyme immunoassay in 21 PPH patients with circulatory failure (age 34.7 +/- 2.1 years), 11 patients with NYHA functional class II-III, 10 with class IV, and 10 control subjects (age 29.8 +/- 1.5 years). RESULTS: Compared to controls, 21 PPH patients had elevated RAAS parameters: APR up to 3.52 ng/ml/h (p < 0.05), activity of ACE up to 43.13 units, AII level up to 33.93 ng/ml (p < 0.01), AS up to 468.86 ng/ml (p < 0.01), VP up to 5.26 ng/ml (p < 0.001). Circulatory failure progression resulted in activation of all the RAAS components. This and VP activation was the greatest in PPH patients with ACE > 5 ng/ml/h. PPH patients with mean pressure in the pulmonary artery higher than 60 mm Hg demonstrated higher ARP, AS, VP, AII, ACE than those who had this pressure under 60 mm Hg. CONCLUSION: PPH patients display a noticeable activation of RAAS and VP. This activation seems to be secondary as the changes increase with elevation of the pressure in the pulmonary artery and aggravation of circulatory insufficiency. Plasma renin activity determines the degree of RAAS activation as a whole. The discovered activation of RAAS in PPH gives grounds for doubts in the validity of using ACE inhibitors in the treatment of PPH. 相似文献
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B.J. Mullins R.D. BraddockI.E. Agranovski 《Mathematics and computers in simulation》2011,81(7):1257-1271
Extensive experimental investigations have shown some of the differences between the behaviours of the barrel and the clamshell shapes of droplets on filter fibres in flow fields. Realistic flow velocities (such as those used in many industrial filter systems) were utilised. The forces acting are air drag, interfacial tension and gravity. The properties of the interfacial restoring force are modelled, and show agreement with the experimental results, at least in the linear extension region before the onset of oscillatory behaviour of the droplets (induced by instability of the flow field). The model for the oscillatory behaviour is explored, and the natural frequencies of oscillation in the radial and transverse directions are shown to be the same, for the barrel shape. The clamshell shape also has the same natural frequencies, but they are different to those of the barrel shape. The coupling of the radial and transverse oscillation modes is explored for both the barrel and clamshell shape. Some contact angle results are given, both without airflow acting on the droplet and with increasing airflow. 相似文献
9.
执行器失效不确定时滞系统的指定衰减度鲁棒可靠控制 总被引:8,自引:0,他引:8
针对一类含有时变时滞的不确定参数线性系统,研究了在执行器发生故障情况下的鲁棒可靠控制器设计问题.系统中的参数不确定性满足广义匹配条件,时变时滞的大小及其变化率有界,并假设故障执行器元件的输出为零.经过适当的模型变换,将原系统的鲁棒指数镇定问题转化为另一个等价系统的鲁棒镇定问题.根据Lyapunov稳定性理论和线性矩阵不等式(LMI)方法,分别给出了鲁棒可靠控制器存在的时滞无关和时滞相关充分条件.仿真结果表明了该控制器设计方法的有效性. 相似文献
10.
JP Mathis IE Goldberg GC Rossi L Leventhal GW Pasternak 《Canadian Metallurgical Quarterly》1998,63(11):PL 161-PL 166
The presence of pairs of basic amino acids within the sequence of orphanin FQ/nociceptin (OFQ/N) peptide, the endogenous ligand for the ORL1/KOR-3 receptor, has raised the possibility that processing might generate pharmacologically important truncated peptides, including OFQ/N(1-11). OFQ/N(1-11) is pharmacologically active in vivo with a potency comparable to OFQ/N. Several tyrosine-containing analogs of OFQ/N(1-11) have been synthesized and examined for antinociceptive activity. Like OFQ/N(1-11), [Tyr1]OFQ/N(1-11), [Tyr10]OFQ/N(1-11) and [IodoTyr10]OFQ/N(1-11) given supraspinally in mice were antinociceptive in the tailflick assay in mice. The tyrosine analogs showed similar potencies as OFQ/N(1-11) but longer durations of action. This response was readily reversed by the opioid antagonist naloxone despite poor affinities for these analogs at opioid receptors. Another compound, [Tyr11]OFQ/N(1-11) was highly epileptogenic, inducing naloxone-sensitive seizures in greater than 50% of the mice tested at doses comparable to those examined with the other analogs. These results indicate that it is possible to make analgesic OFQ/N(1-11) analogs. The activity of [IodoTyr10]OFQ/N(1-11) suggests that it may prove useful as a radioligand in exploring potential OFQ/N(1-11) binding sites. 相似文献