A5007546641- Reproductive Biology and Fertility
- Ovarian function and disorders
- Pregnancy and preeclampsia studies
- Prenatal Screening and Diagnostics
- Folate and B Vitamins Research
- Birth, Development, and Health
- Estrogen and related hormone effects
- Neonatal Respiratory Health Research
- Preterm Birth and Chorioamnionitis
- Pregnancy and Medication Impact
- Cleft Lip and Palate Research
- Nutrition, Genetics, and Disease
- Growth Hormone and Insulin-like Growth Factors
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neonatal and fetal brain pathology
- Thyroid Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Cancer Risks and Factors
- Sexual Differentiation and Disorders
- Gestational Diabetes Research and Management
- Maternal and fetal healthcare
- Hormonal and reproductive studies
- Nutritional Studies and Diet
- Menopause: Health Impacts and Treatments
- Reproductive Health and Technologies
Ljubljana University Medical Centre
2016-2025
University of Ljubljana
2016-2025
Očesna Klinika UKC Ljubljana
2004-2016
University Medical Center
1999-2011
University Hospital and Clinics
1999-2011
Institute of Oncology Ljubljana
2000
Abstract STUDY QUESTION What is the recommended management for couples presenting with unexplained infertility (UI), based on best available evidence in literature? SUMMARY ANSWER The evidence-based guideline UI makes 52 recommendations definition, diagnosis, and treatment of UI. WHAT IS KNOWN ALREADY diagnosed absence any abnormalities female male reproductive systems after ‘standard’ investigations. However, a consensual standardization diagnostic work-up still lacking. traditionally...
Kallmann syndrome (KS) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. The genetics of KS involves various modes transmission, including oligogenic inheritance. Here, we report that Nrp1sema/sema mutant mice lack a functional semaphorin-binding domain in neuropilin-1, an obligatory coreceptor semaphorin-3A, have KS–like phenotype. Pathohistological analysis these indeed showed abnormal development the peripheral olfactory system...
Premature ovarian failure (POF) occurs in 1% of all women, and 0.1% women under the age 30 years. The mechanisms that give rise to POF are largely unknown. Inhibin has a role regulating pituitary secretion FSH, is therefore potential candidate gene for failure. Using single-stranded conformation polymorphism (SSCP) DNA sequencing, samples were screened from 43 with mutations three inhibin genes. Two variants found: 1032C→T transition INHβA one patient, 769G→A INHα patients. variant appears...
Predicting preterm birth is uncertain, and numerous scientists are searching for non-invasive methods to improve its predictability. Current researches based on the analysis of ElectroHysteroGram (EHG) records, which contain information about electrophysiological properties uterine muscle contractions. Since pregnancy a long process, we decided also characterize, first time, non-contraction intervals (dummy intervals) i.e., EHG signals accompanied by simultaneously recorded external tocogram...
Premature ovarian insufficiency (POI) is poorly understood, with causes identified in only 25% of cases. Emerging evidence suggests links between trace elements (TEs) and POI. This study the first to compare concentrations manganese (Mn), copper (Cu), zinc (Zn), selenium (Se), molybdenum (Mo), arsenic (As), cadmium (Cd), mercury (Hg), lead (Pb) across urine, serum, whole blood women POI compared healthy controls (HC), aiming explore their distribution potential associations...
Adequate levels of folates are essential for homeostasis the organism, prevention congenital malformations, and salvage predisposed disease states. They depend on genetic predisposition, therefore, a pharmacogenetic approach to individualized supplementation or therapeutic intervention is necessary an optimal outcome. The role in vital cell processes was investigated by translational pharmacogenetics employing lymphoblastoid lines (LCLs). Depriving cells led reversible S-phase arrest. Since...
Hyperandrogenaemia is a common feature of polycystic ovary syndrome (PCOS). The sex hormone-binding globulin (SHBG) gene was proposed as being PCOS candidate gene. A possible influence the microsatellite polymorphism (TAAAA)(n) in SHBG on serum levels patients investigated.One hundred and twenty-three 110 age-matched controls were included study. Peripheral blood samples obtained. Genotyping performed. Serum LH, FSH, total testosterone concentrations determined.SHBG alleles with 6-11 TAAAA...
Inhibin is an important glycoprotein that involved in folliculogenesis. INHA, the gene encoding inhibin alpha subunit, was recently proposed as a candidate for premature ovarian failure (POF), syndrome leads to cessation of function under age 40 years. 70 POF patients and controls were screened previously identified INHA −16C>T transition mutation. The T allele found 31/70 (44.3%) controls, but only 18/70 (25.7%) patients. This result indicates significantly underrepresented patient...
In a Slovene patient with primary amenorrhoea without an association blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), novel 30 bp deletion was identified in the FOXL2 gene. We report clinical features of this woman who has spontaneously conceived and delivered two live healthy babies. The predicted to remove 10 out 14 alanines (A221_A230del), from polyalanine tract downstream winged helix/forkhead domain protein. patient's parents sister were shown not carry deletion. Despite...
Single fibre EMG recordings were made from 152 fasciculating motor units in 17 patients with neuron disease. All showed abnormal jitter, many (75%) displayed intermittent blocking, and most had density (mean 4.3), demonstrating considerable degrees of collateral sprouting supported by the units, varying functional immaturity new axonal twigs end plates. The SFEMG abnormalities reflecting both degree recency reinnervation correlated mean interdischarge interval, suggesting that properties...
Abstract Background A single nucleotide polymorphism located in the 3'-untranslated region of KRAS oncogene ( variant; rs61764370) disrupts a let-7 miRNA binding and was recently reported to act as genetic marker for increased risk developing human cancers. We aimed investigate an association variant with sporadic familial breast cancer tumor characteristics. Methods Genotyping accomplished 530 postmenopausal cases, 165 cases (including N = 29, who test positive BRCA1/2 mutations) 270...
Estrogen plays a key role in breast cancer development and functionally relevant genetic variants within the estrogen metabolic pathway are prime candidates for possible association with risk. We investigated independent combined effects of commonly occurring polymorphisms four genes encoding proteins on their potential contribution to risk.We studied 530 cases 270 controls same age ethnicity participating case-control study postmenopausal women. Genotyping was conducted CYP1B1 (rs1056836),...
To examine the proportion of iatrogenic births among all preterm over a 26-year period.A registry-based survey deliveries between 1987 and 2012 analyzed by onset labor: spontaneous with intact membranes, premature rupture membranes (PPROM) or iatrogenic. Stratification into categories gestation (22 weeks to 27 6 days, 28 31 32 33 34 36 days) was performed. Preterm birth rates were using Mantel-Haenszel linear-by-linear association χ2-test (P<0.05 significant). Logistic regression used...