Ljudje smo vsakodnevno izpostavljeni različnim kemičnim motilcem endokrinega sistema (KMES). Izpostavljenost KMES je povezana s številnimi motnjami in boleznimi reproduktivnega sistema, vendar njihov ...vpliv še ni natančno pojasnjen. Opisanih je več različnih mehanizmov preko katerih KMES lahko motijo delovanje organizma. Reproduktivno zdravje je odvisno od pravilnega prenatalnega razvoja jajčnikov, ki je ključen za njihovo pravilno delovanje. Ugotovitve epidemioloških študij in študij na živalih kažejo, da prenatalna izpostavljenost KMES lahko povzroči različne bolezni reproduktivnega sistema pozneje v življenju, kar povzema hipoteza sindroma ovarijske disgeneze. Eden od vzročnih mehanizmov delovanja KMES za pojav sindroma ovarijske disgeneze naj bi bile tudi epigenetske spremembe. V članku, ki je pregled literature na tem področju, je predstavljena vloga epigenetskih procesov (DNA metilacija, ne-kodirajoča RNA, histonske modifikacije) v toksičnem delovanju KMES na reproduktivni sistem.
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 away; and 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 pregnancy; and 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.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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.
To date, the involvement of various genetic markers in the aetiopathogenesis of non-syndromic orofacial cleft (nsOFC) has been extensively studied. In the present study, we focused on studies ...performed on populations of European ancestry to systematically review the available literature to define relevant genetic risk factors for nsOFC. Eligible studies were obtained by searching Ovid Medline and Ovid Embase. We gathered the genetic markers from population-based case-control studies on nsOFC, and conducted meta-analysis on the repeatedly reported markers. Whenever possible, we performed stratified analysis based on different nsOFC phenotypes, using allelic, dominant, recessive and overdominant genetic models. Effect sizes were expressed as pooled odds ratios (ORs) with 95% confidence intervals (CIs), and p ≤ 0.05 were considered statistically significant. A total of 84 studies were eligible for this systematic review, with > 700 markers included. Of these, 43 studies were included in the meta-analysis. We analysed 47 genetic variants in 30 genes/loci, which resulted in 226 forest plots. There were statistically significant associations between at least one of the nsOFC phenotypes and 19 genetic variants in 13 genes/loci. These data suggest that IRF6, GRHL3, 8q24, VAX1, TGFA, FOXE1, ABCA4, NOG, GREM1, AXIN2, DVL2, WNT3A and WNT5A have high potential as biomarkers of nsOFC in populations of European descent. Although other meta-analyses that included European samples have been performed on a limited number of genetic variants, this study represents the first meta-analysis of all genetic markers that have been studied in connection with nsOFC in populations of European ancestry.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Preterm birth in humans (PTB), defined as birth prior to 37 weeks of gestation, is one of the most important causes of neonatal morbidity and mortality and is associated with adverse health outcomes ...later in life. Attributed to many different etiological factors, estimated 15.1 million or 11.1% of births each year are preterm, which is more than 1 per 10 livebirths globally. Environmental pollution is a well-established risk factor that could influence the pathogenesis of PTB. Increasing evidence has shown an association between maternal exposure to endocrine disrupting chemicals (EDCs) and PTB. This scoping review aims to summarize current research on the association between EDC exposure and PTB in humans. Database PubMed was used to identify articles discussing the effect of selected EDCs, namely bisphenol A, bisphenol S, bisphenol F, parabens, and triclosan, found in plastics, cosmetics and other personal care products, on PTB occurrence. Regardless of some inconsistences in the findings across studies, the reviewed studies suggest a potential association between involuntary exposure to reviewed EDCs and the risk of PTB. However, further studies are needed to delineate exact correlations and mechanisms through which EDC exposure causes PTB so that efficient preventative measures could be implemented. Until then, health care providers should inform women about possible EDC exposure thus empowering them to make healthy choices and at the same time decrease the EDC negative effects.
•Environmental pollution is a one of the risk factors for preterm birth (PTB).•Scoping review evaluating endocrine disruptors' effect on PTB in humans.•Potential link is suggested between bisphenols, parabens, triclosan and PTB risk.•Proposed effects are endocrine, immune disruption, oxidative stress, and epigenetics.•Further studies are needed to delineate exact correlations and mechanisms.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Obravnava žensk v obdobju predmenopavze, ob menopavzi in kasneje se je v novem tisočletju pomembno spremenila. Randomizirane klinične raziskave so bistveno omejile indikacije za uvedbo hormonskega ...zdravljenja (HZ) in s tem menopavzno medicino postavile pred velik izziv. Na srečo so najnovejša dognanja potrdila, da je ob pravilni uporabi in izbiri HZ korist še vedno bistveno večja od tveganja. Zato smo pripravili posodobljena stališča o menopavzni medicini, ki so v skladu z aktualnimi mednarodnimi priporočili in prilagojena posebnostim slovenskega prostora.
Humane genetske spremembe se pojavljajo v celotnem genomu, tako v kodirajočih kot tudi v nekodirajočih predelih. Opredeljujejo genetsko raznolikost med posamezniki in so v nekaterih primerih lahko ...vzrok različnih genetskih bolezni. ctevilne se pojavijo že v otroštvu. V prvem delu preglednega prispevka opisujemo različne vrste genetskih sprememb, od manjših sekvenčnih sprememb do velikih kromosomskih nepravilnosti. Sledi predstavitev pomembnejših pristopov (citogenetskih in molekularnih genetskih), ki se uporabljajo za določanje humanih genetskih sprememb v klinični praksi. Večji poudarek namenjamo metodam sekvenciranja, saj so omogočile vpogled v nukleotidno zaporedje celotnega genoma in pomenijo revolucijo na področju molekularnega genetskega diagnosticiranja. Izpostavili smo težave, ki se porajajo pri določanju genetskih sprememb z metodami sekvenciranja naslednje generacije (angl. next generation sequencing, NGS), in predstavili prednosti najnovejših metod sekvenciranja − tehnologij dolgih odčitkov. Dandanes precejšnega deleža humanih genetskih sprememb, povezanih z razvojem genetskih bolezni, še vedno niso odkrili. Zato predstavljamo nekaj možnih pristopov, s katerimi bi lahko izboljšali odkrivanje genetskih sprememb na individualni ravni.
To improve the understanding of the underlying physiological processes that lead to preterm birth, and different term delivery modes, we quantitatively characterized and assessed the separability of ...the sets of early (23rd week) and later (31st week) recorded, preterm and term spontaneous, induced, cesarean, and induced-cesarean electrohysterogram (EHG) records using several of the most widely used non-linear features extracted from the EHG signals. Linearly modeled temporal trends of the means of the median frequencies (MFs), and of the means of the peak amplitudes (PAs) of the normalized power spectra of the EHG signals, along pregnancy (from early to later recorded records), derived from a variety of frequency bands, revealed that for the preterm group of records, in comparison to all other term delivery groups, the frequency spectrum of the frequency band B0L (0.08–0.3 Hz) shifts toward higher frequencies, and that the spectrum of the newly identified frequency band B0L’ (0.125–0.575 Hz), which approximately matches the Fast Wave Low band, becomes stronger. The most promising features to separate between the later preterm group and all other later term delivery groups appear to be MF (p=1.1⋅10−5) in the band B0L of the horizontal signal S3, and PA (p=2.4⋅10−8) in the band B0L’ (S3). Moreover, the PA in the band B0L’ (S3) showed the highest power to individually separate between the later preterm group and any other later term delivery group. Furthermore, the results suggest that in preterm pregnancies the resting maternal heart rate decreases between the 23rd and 31st week of gestation.
•Characterization and separation of preterm, term, induced, and cesarean EHG records.•Power spectra of preterm EHG records move to the higher frequencies along pregnancy.•Amplitudes of power spectra in the FWL band are higher for preterm EHG records.•Power spectra features separate between preterm and each other delivery mode.•The maternal heart rate decreases along pregnancy for preterm EHG records.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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