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.     

Development of calcium signalling mechanisms during maturation of human oocytes

Sperm-induced Ca2+ signals mediate the events of oocyte activation at fertilization. In this study, the development of mechanisms involved in the generation of Ca2+ signals in human oocytes was investigated. The thiol reagent, thimerosal, which induces oscillations of intracellular Ca2+ ([Ca2+]i) similar to those seen during fertilization, was used to mobilize Ca2+ in in-vivo matured, immature and in-vitro matured human oocytes. There was an increase in the sensitivity to thimerosal during maturation of human oocytes, with oocytes from small antral follicles being relatively insensitive, compared with those from luteinized follicles, which displayed a large spike followed by sustained oscillations in [Ca2+]i. These oscillations were inhibited by caffeine which suggests that they were mediated by the inositol trisphosphate receptor Ca2+ release system. When immature oocytes were cultured in vitro they acquired the capacity to undergo a single large spike in [Ca2+]i, however, subsequent sustained oscillations were not observed, indicating that these oocytes failed to develop fully competent Ca2+ signalling mechanisms during culture in vitro. This finding may be a key factor in the poor developmental competence of in-vitro matured human oocytes.     

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.     

A New Approach to Abstract Syntax with Variable Binding

The permutation model of set theory with atoms (FM-sets), devised by Fraenkel and Mostowski in the 1930s, supports notions of ‘name-abstraction’ and ‘fresh name’ that provide a new way to represent, compute with, and reason about the syntax of formal systems involving variable-binding operations. Inductively defined FM-sets involving the name-abstraction set former (together with Cartesian product and disjoint union) can correctly encode syntax modulo renaming of bound variables. In this way, the standard theory of algebraic data types can be extended to encompass signatures involving binding operators. In particular, there is an associated notion of structural recursion for defining syntax-manipulating functions (such as capture avoiding substitution, set of free variables, etc.) and a notion of proof by structural induction, both of which remain pleasingly close to informal practice in computer science. Received October 2000 / Accepted in revised form April 2001     

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.