GENETIKA SINDROMA POLICISTIČNIH JAJNIKA

Polycystic ovary syndrome (PCOS), a heterogeneous complex disease, is presented in the light of its multifactorial pathogenesis. In particular, the genetic background of the syndrome and the most promising PCOS candidate genes are discussed in more detail.Prikazan je sindrom policističnih jajnika (PCOS) kao heterogena kompleksna bolest, uglavnom iz vidika njegove multifaktorske patogeneze. Genetska pozadina ovog sindroma i najvjerojatniji PCOS geni kandidati detaljno su obrazloženi

Ob 90. letniku izhajanja Zdravniškega vestnika: Zgodovinski pregled od leta 1929 do leta 2021

Zdravniški vestnik je odigral pomembno vlogo v razvoju sodobne slovenske medicine in slovenskega medicinskega jezika, zlasti terminologije. Namen članka je na kratko prikazati razvoj Zdravniškega vestnika od njegove ustanovitve 1929 do danes

Characteristics of health behaviours and health status indicators among pregnant women in Slovenia

Background: Pregnancy is a period when women reconsider their own health and health related behaviour for the sake of their future child. Along with their health providers, they are faced with a number of risk assessments and decisions, which become far more complex as their effect on two organisms rather than one is at play. This paper provides an overview of possible associations between self-reported health status, health behaviours and socio-demographics during pregnancy.Methods: Study data were obtained from the case-control research project “Analysis of folate metabolism biomarkers in the risk assessment for neural tube defects, orofacial clefts and congenital heart defects”, which recruited participants from May 2013 to September 2015. Questionnaires about maternal health, health related behaviour and socio-demographic characteristics were completed by 450 women. The data include pregnancies from the 1980s to 2015.Results: We observed that younger and less educated women more frequently reported positive smoking status during pregnancy, while higher prevalence of folate/multivitamin supplementation was found among more educated, older and nulliparous women. There was a U-shaped distribution of medication intake (over-the-counter and prescribed) with respect to educational level, with the highest intake in mothers with a masters/PhD degree and among those that completed elementary school. Higher medication usage was also reported among older women. With increasing maternal age there was an increase in medication intake, folate/multivitamin intake, as well as incidence of gestational diabetes over the studied time period, with the highest frequencies occurring in later decades. A higher incidence of chronic diseases was observed in a group of multiparous women than among monoparous women.Conclusions: Considerable socio-demographic disparities exist in health-related behaviour among pregnant women. Improved public health campaigns and individual health care counselling are needed to address specific requirements of socio-demographic groups at higher risks of adverse pregnancy outcomes.</p

Genetic causes of women infertility

Background. We would like to emphasize some genetic causes of female infertility. Methods. The retrospective study included all women referred to Department of Obstetrics and Gynaecology, Division of Medical Genetics, in the period between 1994 and 2008 due to infertility. Cytogenetic studies and DNA analysis were carried out. Results. 254 women were included in genetic counselling due to irregular menstrual cycle or premature ovarian failure. Chromosome abnormalities were found in 62 (24.4 %) women, 14 women had various gene mutations. The most common abnormality was X chromosome mosaicism. Conclusions. The recognition of risk factors is the first step in the search of genetic causes of female infertility, followed by genetic counselling and diagnostic procedures

Characterization and automatic classification of preterm and term uterine records

Predicting preterm birth is uncertain, and numerous scientists are searching for non-invasive methods to improve its predictability. Current researches are based on the analysis of ElectroHysteroGram (EHG) records, which contain information about the electrophysiological properties of the uterine muscle and uterine contractions. Since pregnancy is a long process, we decided to also characterize, for the first time, non-contraction intervals (dummy intervals) of the uterine records, i.e., EHG signals accompanied by a simultaneously recorded external tocogram measuring mechanical uterine activity (TOCO signal). For this purpose, we developed a new set of uterine records, TPEHGT DS, containing preterm and term uterine records of pregnant women, and uterine records of non-pregnant women. We quantitatively characterized contraction intervals (contractions) and dummy intervals of the uterine records of the TPEHGT DS in terms of the normalized power spectra of the EHG and TOCO signals, and developed a new method for predicting preterm birth. The results on the characterization revealed that the peak amplitudes of the normalized power spectra of the EHG and TOCO signals of the contraction and dummy intervals in the frequency band 1.0-2.2 Hz, describing the electrical and mechanical activity of the uterus due to the maternal heart (maternal heart rate), are high only during term pregnancies, when the delivery is still far awayand they are low when the delivery is close. However, these peak amplitudes are also low during preterm pregnancies, when the delivery is still supposed to be far away (thus suggesting the danger of preterm birth)and they are also low or barely present for non-pregnant women. We propose the values of the peak amplitudes of the normalized power spectra due to the influence of the maternal heart, in an electro-mechanical sense, in the frequency band 1.0-2.2 Hz as a new biophysical marker for the preliminary, or early, assessment of the danger of preterm birth. The classification of preterm and term, contraction and dummy intervals of the TPEHGT DS, for the task of the automatic prediction of preterm birth, using sample entropy, the median frequency of the power spectra, and the peak amplitude of the normalized power spectra, revealed that the dummy intervals provide quite comparable and slightly higher classification performances than these features obtained from the contraction intervals. This result suggests a novel and simple clinical technique, not necessarily to seek contraction intervals but using the dummy intervals, for the early assessment of the danger of preterm birth. Using the publicly available TPEHG DB database to predict preterm birth in terms of classifying between preterm and term EHG records, the proposed method outperformed all currently existing methods. The achieved classification accuracy was 100% for early records, recorded around the 23rd week of pregnancyand 96.33%, the area under the curve of 99.44%, for all records of the database. Since the proposed method is capable of using the dummy intervals with high classification accuracy, it is also suitable for clinical use very early during pregnancy, around the 23rd week of pregnancy, when contractions may or may not be present.Predicting preterm birth is uncertain, and numerous scientists are searching for non-invasive methods to improve its predictability. Current researches are based on the analysis of ElectroHysteroGram (EHG) records, which contain information about the electrophysiological properties of the uterine muscle and uterine contractions. Since pregnancy is a long process, we decided to also characterize, for the first time, non-contraction intervals (dummy intervals) of the uterine records, i.e., EHG signals accompanied by a simultaneously recorded external tocogram measuring mechanical uterine activity (TOCO signal). For this purpose, we developed a new set of uterine records, TPEHGT DS, containing preterm and term uterine records of pregnant women, and uterine records of non-pregnant women. We quantitatively characterized contraction intervals (contractions) and dummy intervals of the uterine records of the TPEHGT DS in terms of the normalized power spectra of the EHG and TOCO signals, and developed a new method for predicting preterm birth. The results on the characterization revealed that the peak amplitudes of the normalized power spectra of the EHG and TOCO signals of the contraction and dummy intervals in the frequency band 1.0-2.2 Hz, describing the electrical and mechanical activity of the uterus due to the maternal heart (maternal heart rate), are high only during term pregnancies, when the delivery is still far awayand they are low when the delivery is close. However, these peak amplitudes are also low during preterm pregnancies, when the delivery is still supposed to be far away (thus suggesting the danger of preterm birth)and they are also low or barely present for non-pregnant women. We propose the values of the peak amplitudes of the normalized power spectra due to the influence of the maternal heart, in an electro-mechanical sense, in the frequency band 1.0-2.2 Hz as a new biophysical marker for the preliminary, or early, assessment of the danger of preterm birth. The classification of preterm and term, contraction and dummy intervals of the TPEHGT DS, for the task of the automatic prediction of preterm birth, using sample entropy, the median frequency of the power spectra, and the peak amplitude of the normalized power spectra, revealed that the dummy intervals provide quite comparable and slightly higher classification performances than these features obtained from the contraction intervals. This result suggests a novel and simple clinical technique, not necessarily to seek contraction intervals but using the dummy intervals, for the early assessment of the danger of preterm birth. Using the publicly available TPEHG DB database to predict preterm birth in terms of classifying between preterm and term EHG records, the proposed method outperformed all currently existing methods. The achieved classification accuracy was 100% for early records, recorded around the 23rd week of pregnancyand 96.33%, the area under the curve of 99.44%, for all records of the database. Since the proposed method is capable of using the dummy intervals with high classification accuracy, it is also suitable for clinical use very early during pregnancy, around the 23rd week of pregnancy, when contractions may or may not be present

GENETIKA SINDROMA POLICISTIČNIH JAJNIKA

Polycystic ovary syndrome (PCOS), a heterogeneous complex disease, is presented in the light of its multifactorial pathogenesis. In particular, the genetic background of the syndrome and the most promising PCOS candidate genes are discussed in more detail.Prikazan je sindrom policističnih jajnika (PCOS) kao heterogena kompleksna bolest, uglavnom iz vidika njegove multifaktorske patogeneze. Genetska pozadina ovog sindroma i najvjerojatniji PCOS geni kandidati detaljno su obrazloženi

Efficacy of metformin treatment in polycysticovary syndrome

Metformin is an oral antidiabetic drug with potentially beneficial effects in patients with polycystic ovary syndrome (PCOS). Different pharmacological responses to metformin have been reported in PCOS patients, which may be attribut able to various clinical, biochemical, genetic and other factors. Here, we have outlined a short review of the results from current clinical studies on metformin efficacy in PCOS patients. Additionally, preliminary results from a retrospective pharmacogenetic study by our group on a sample of Slovene PCOS patients are presented. Pharmacogenetics is an emerging science that should provide options for individualized medicine, the future of healthcare.Metformin je peroralni antidiabetik, potencialno učinkovit tudi v terapiji bolnic s sindromom policističnih jajčnikov (PCOS). Med bolnicami s PCOS prihaja do opaznih razlik v farmakološkem odzivu na metformin, kar je verjetno posledica kliničnih, biokemijskih, genetskih in drugih dejavnikov. V prispevku navajamo kratek pregled ugotovitev dosedanjih kliničnih študij učinkovitosti zdravljenja bolnic s PCOS z metforminom ter hkrati povzemamo preliminarne rezultate retrospektivne farmakogenetske študije na vzorcu slovenskih bolnic s PCOS. Sodobno znanje farmakogenetike si počasi, a vztrajno utira pot v klinično prakso ter postaja pomemben segment obravnave bolnikov in eden od temeljev osebne medicine medicine prihodnosti

Genetic polymorphisms of INS, INSR and IRS-1 genes are not associated with polycystic ovary syndrome in Croatian women [Polimorfizmi gena za INS, INSR i IRS-1 nisu povezani sa sindromom policističnih jajnika u Hrvatskoj populaciji PCOS bolesnica]

Obesity and insulin resistance is a common finding in patients with polycystic ovary syndrome (PCOS). Significant number of PCOS women experience insulin resistance that is irrespective of the degree of obesity suggesting possible genetic basis. Therefore, several polymorphisms of the genes encoding for the insulin (INS), insulin receptor (INSR) or insulin receptor substrates (IRS) involved in postreceptor signaling have been explored for their association with abnormal sensitivity to insulin in PCOS. The aim of the present study was to determine whether selected polymorphisms of INS, INSR and IRS-1 are associated with the development of PCOS as well as with increased insulin resistance in Croatian women with PCOS. The study enrolled 150 women with PCOS and 175 control women. The diagnosis of PCOS was based on Rotterdam consensus criteria. Each subject underwent an evaluation of body mass index (BMI), hirsutism, acne and menstrual cycle abnormalities as well as follicular stimulating hormone (FSH), luteinizing hormone (LH), total and free testosterone, androstendione, dehydroepiandrosterone sulphate (DHEAS), sex hormone binding globulin (SHBG), fasting glucose and fasting insulin. Insulin resistance (IR) was quantified using the homeostatic model assessment of IR (HOMA-IR). Molecular analyses for the genetic polymorphisms were preformed. There was a significant difference in clinical and biochemical characteristics of the studied groups except for BMI and fasting glucose levels. No significant differences were observed in the genotype and allele distribution of the VNTR INS, C/T INSR, Gly792Arg IRS-1 polymorphisms between cases and controls. Moreover, no association was found between VNTR INS, C/T INSR and Gly792Arg IRS-1 polymorphism and parameters of insulin resistance in PCOS patients. In conclusion, our data does not support an association between VNTR INS, C/T INSR and Gly792Arg IRS-1 polymorphism and susceptibility to PCOS or insulin resistance in Croatian women with PCOS