Preimplantation Genetic Testing within the Public Healthcare System in Slovenia.

Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective register-based study to present 15 years of PGT service within the public healthcare system in Slovenia. We collected the data of the PGT cycles from 2004 to 2019 and compared clinical outcomes for chromosomal and monogenic diseases using different embryo biopsy and testing approaches. In addition, we assessed the extent to which PGT has become the preferred option compared to classic prenatal diagnostics. We treated 211 couples, 110 with single gene disorder, 88 with structural chromosome rearrangement and 13 for numerical chromosome aberration. There were 375 PGT cycles with oocyte retrieval, while embryo transfer was possible in 263 cases resulting in 78 deliveries and 84 children. Altogether, the clinical pregnancy rate per embryo transfer was 31% in 2004-2016 (blastomere biopsy) and 43% in 2017-19 (blastocyst biopsy), respectively. We assessed that approximately a third of couples would opt for PGT, while the rest preferred natural conception with prenatal diagnosis. Our results show that providing a PGT service within the public healthcare system has become a considerable option in pregnancy planning for couples at risk of transmitting a severe genetic disease to their offspring. In Slovenia, approximately a third of couples would opt for PGT. Although the number of cycles is small, our clinical results are comparable to larger centres.

Premature ovarian failure with FMR1 premutation, X chromosome mosaicism and blood lymphocyte microchimerism.

Genetic causes of premature ovarian failure (POF) comprise less than one-third of all cases, among them X chromosome abnormalities, mutations and polymorphisms in some genes. The frequency of X-chromosome mosaicism in women with sporadic POF has been found to range between 3 and 10%, whereas the prevalence of POF in carriers of the FMR1 premutation is estimated to range between 13 and 25%. We report two successful pregnancy outcomes after in vitro fertilization-embryo transfer with donated oocytes in a woman with severe POF of a complex genetic origin. Chromosome analysis, fluorescence in situ hybridization on cultured peripheral blood lymphocytes and buccal mucosal cells, and molecular genetic studies, using autosomal, Y-chromosomal polymorphic microsatellite or short tandem repeat markers and CGG repeats in the FMR1 gene, were performed. FMR1 premutation, sex chromosome mosaicism and blood lymphocyte microchimerism were found. Assisted reproduction techniques can be safely used in POF women after a thorough clinical evaluation and genetic counselling.

Taenia solium: current understanding of laboratory animal models of taeniosis.

Neurocysticercosis is a public health problem in many developing countries and is the most frequent parasitic disease of the brain. The human tapeworm carrier is the main risk factor for acquiring neurocysticercosis. Since the parasite lodges only in the human intestine, experimental models of Taenia solium taeniosis have been explored. Macaques, pigs, dogs, cats and rabbits are unsuccessful hosts even in immunodepressed status. By contrast, rodents are adequate hosts since tapeworms with mature, pregravid and, in some cases, gravid proglottids develop after infection. In this review, information that has been generated with experimental models of taeniosis due to T. solium is discussed. Initially, the use of the model for immunodiagnosis of human taeniosis and evaluation of intervention measures is summarized. Next, descriptions of tapeworms and comparison of hamsters, gerbils and other mammals as experimental models are discussed, as well as data on the humoral immune response, the inflammatory reaction and the production of cytokines associated to Th1 and Th2 responses in the intestinal mucosa. Finally, evaluation of protection induced against the development of tapeworms by recombinant T. solium calreticulin in hamsters is summarized and compared to other studies.

Epidemiology of Huntington's disease in Slovenia.

OBJECTIVES: The objective of this study was to estimate the prevalence of Huntington's disease (HD) in Slovenia using direct mutation analysis. MATERIALS AND METHODS: Symptomatic patients and presymptomatic individuals at risk for HD referred to the Institute of Medical Genetics between 1997 and 2007 were included in the study. The patients were ascertained through multiple sources. The prevalence was estimated on 31 December 2006. RESULTS: A total of 116 and 68 individuals with CAG repeat number >36 were symptomatic and presymptomatic, respectively. The prevalence of HD in Slovenia was estimated at 5.16/10(5) (95% confidence interval 4.16-6.16). CONCLUSIONS: This is the first report on the epidemiology and prevalence of HD in Slovenia. The prevalence of HD is comparable with previously reported data in other European countries. In Slovenia, a higher proportion of individuals at risk for HD decide on predictive mutational testing as compared with the estimated numbers for Europe, United States, Canada and Australia.

Atrial natriuretic peptide levels in brain venous outflow during cardiopulmonary bypass in humans: evidence for extracardiac hormonal production.

Atrial natriuretic peptide (ANP) is a hormone with an important role in the regulation of extracellular fluid volume. The ANP gene is not only expressed in the heart, but the high concentration of ANP in cardiac blood makes it difficult to demonstrate extraatrial hormonal secretion in vivo. This issue was addressed during complete cardiopulmonary bypass (CPB) in 13 patients undergoing elective cardiac surgery in whom ANP concentrations were followed in the internal jugular vein, representing largely brain venous outflow, as well as a peripheral vein and radial artery, after the heart and lungs were excluded from circulation. Plasma ANP levels in the peripheral venous circulation showed no significant changes during extracorporeal circulation, although they tended to decrease (from 6.75 +/- 2.16 fmol/mL to 4.76 +/- 0.69 fmol/mL; P greater than 0.05). ANP levels in the radial artery decreased significantly after the exclusion of the heart (from 16.84 +/- 3.51 fmol/mL to 6.83 +/- 0.97 fmol/mL; P less than 0.01). In contrast, ANP concentration in the internal jugular vein increased in 12 of 13 patients during the first 15 minutes of CPB (from 9.49 +/- 1.96 fmol/mL to 15.96 +/- 2.8 fmol/mL; P less than 0.01) and remained above the levels found simultaneously in other sampling sites during CPB. High-performance liquid chromatography analysis of plasma extracts showed multiple peaks of ANP, but the elution patterns of peripheral venous blood and brain outflow were similar. One of the immunoreactive peaks was located at the position of standard human ANP (Ser99-Met110-Tyr126).(ABSTRACT TRUNCATED AT 250 WORDS)

Embolomycotic aneurysm of external iliac artery: producing ipsilateral hydronephrosis and venous insufficiency.

We report a case of embolomycotic aneurysm of the right iliac artery secondary to bacterial endocarditis. The patient, a 33-year-old woman, presented with unilateral hydronephrosis and lower extremity edema caused by aneurysmal compression of the ipsilateral ureter and the external iliac vein. She was treated with ligation and an extraperitoneal left-external-iliac-artery to right-femoral-artery bypass using a knitted Dacron prosthesis. Since her surgery, our patient has been well except for persistence of moderate leg edema. To the best of our knowledge, we are reporting the 1st case of embolomycotic external-iliac-artery aneurysm secondary to bacterial endocarditis and resulting in hydronephrosis and venous insufficiency.