46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty

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.     

Transvaginal multifetal pregnancy reduction: Which? When? How many?

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.     

Activity of renin-angiotensin-aldosterone system (RAAS) and vasopressin level in patients with primary pulmonary hypertension

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.     

Comments on “A novel dead time compensator for stable processes with long dead times” [Journal of Process Control 22 (2012) 612–625]

This short communication analyzes the results recently presented in the paper “On a novel dead time compensator for stable processes with long dead times” published in the Journal of Process Control. In the mentioned paper it is argued that the proposed strategy, called modified Smith predictor (MSP), gives better performance than the filtered Smith predictor (FSP) dead-time compensator for stable processes with dead time. In fact MSP has the same structure as FSP and only some specific tuning rules of the filters are proposed. Therefore, in this work some aspects of the comparative analysis and tuning rules presented in the referred paper are discussed to show that MSP is a particular case of FSP and that for some particular cases its tuning rule does not allow for a good closed-loop response. Some simulation case studies are used to illustrate these aspects.     

Assessment of Soil Stiffness Properties by Dynamic Tests on Bridges

This paper presents a method to determine soil stiffness properties using measured structural modes of bridges. Normally, the identified mode shapes have to be smoothed. The mode shapes are approximated using functions describing the transverse vibration of distributed–parameter systems. Artificial coefficients are introduced into this solution in order to sum up the error contributions of displacements and its derivatives up to second order. Then, a pier-soil model based on normalized mechanical impedance functions is used. Applying this method along with more than one vertical mode shape leads to acceptable and more accurate results. The amplitudes of pier bottom vibrations are chosen as the suitable weights for the averaging procedure. For the Warth Bridge situated near Vienna, shear wave velocities and shear moduli at the pier foundations have been estimated. The results correspond quite well to the geological investigation.     

Modeling the leadership – project performance relation: radial basis function,Gaussian and Kriging methods as alternatives to linear regression

The purpose of this paper is to analyze alternative forecasting methods that produce results at least similar to or better than linear regression (MLR) that can be used in the modeling of social systems. While organizations may be considered as typically non-linear systems, the common feature of most models found in literature continues to be the use of linear regression techniques. From a case study, advanced statistical methods of Gaussian and Kriging are evaluated, as well as an artificial intelligence (AI) tool, the radial basis function (RBF). The results show the best performance of the suggested methods compared to MLR, especially RBF, because of its uniform prediction behavior throughout all ranges of evaluation. These techniques, although somewhat unconventional in social systems modeling, present a potential contribution in increasing the accuracy and precision of the predictions allowing a more accurate assessment of the impact of certain strategies on the project performance to be made before the allocation of material, human and financial resources.