INTRODUCTION: Neonatal hypoglycaemia is the most common metabolic disorder of various causes, relatively rare being MODY (Maturity Onset Diabetes of the Young). CONTENT: Data search of relevant articles focused on hypoglycaemia in carriers of selected MODY gene mutations published from 2007 to 2022 was performed in databases Medline, PubMed, Cochrane and UptoDate based on key words: 'hyperinsulinemic hypoglycaemia', 'congenital hyperinsulinism', 'MODY', 'HNF4A mutation', 'HNF1A mutation'. SUMMARY: Loss of function of HNF4A and HNF1A genes comprises approximately to 5.9 % of diazoxide responsive hyperinsulinemic hypoglycaemia, which may appear in 15 % HNF4A mutation carriers. A typical finding of HNF4A mutation carriers with neonatal hypoglycaemia was a birth weight above 4000 g or above 97th percentile. OUTLOOK: Although mutations in MODY genes represent a rare cause of neonatal hypoglycaemia, they should be considered in the differential diagnosis, particularly in cases of persistent hypoglycaemia requiring intensive care.

• Klíčová slova
• HNF1A, HNF4A, MODY, congenital hyperinsulinism, hyperinsulinemic hypoglycemia,
• MeSH
• diabetes mellitus 2. typu * genetika   komplikace   MeSH
• hepatocytární jaderný faktor 1-alfa genetika   MeSH
• hepatocytární jaderný faktor 4 * genetika   MeSH
• hypoglykemie * genetika   etiologie   patologie   MeSH
• lidé MeSH
• mutace * MeSH
• nemoci novorozenců * genetika   MeSH
• novorozenec MeSH
• rodiče MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• hepatocytární jaderný faktor 1-alfa MeSH
• hepatocytární jaderný faktor 4 * MeSH
• HNF1A protein, human MeSH Prohlížeč
• HNF4A protein, human MeSH Prohlížeč

The aim of the study was to describe the associations between socio-economic status and type 2 diabetes in a non-institutionalised population aged 70 years or over. Diabetes was assessed on the basis of self-reports and additionally 2-h oral glucose tolerance test for the subjects on diet treatment. Socio-economic status was assessed by questions on marital status, number of residents in household, basic education, self-rated income and economic status. In the population of 379 subjects (141 men), 14% (n = 19) of men and 19% (n = 46) of women had known diabetes. Known diabetes was less common among married compared to unmarried, widowed or divorced subjects. Diabetes was also more common among men with higher compared to lower level of basic education, while a reverse trend was seen among women. Women, who had been engaged in manual labour, had diabetes more often compared to those engaged in administrative work. Diabetes was more common among men who rated their income as good, but the opposite was true of women. Higher income among men and lower income among women were the most powerful variables associated with known diabetes. Known diabetes was more common in elderly women with lower socio-economic status, whereas the opposite was true of men. This finding suggests that the impact of the socio-economic changes that have taken place in Finland in the 20th century on the risk factors for diabetes has been greater among men with higher and women with lower socio-economic status.

• MeSH
• diabetes mellitus 2. typu diagnóza   etiologie   MeSH
• geriatrické hodnocení MeSH
• glukózový toleranční test MeSH
• lidé MeSH
• manželský stav MeSH
• prevalence MeSH
• příjem MeSH
• rizikové faktory MeSH
• senioři MeSH
• společenská třída * MeSH
• stupeň vzdělání MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Finsko epidemiologie   MeSH

The characteristics of energy status in porcine oocytes as related to their meiotic competence and in vitro maturation were studied. Cycling pubertal gilts in the early luteal to early follicular phases of the ovarian cycle were used as oocyte donors. The oocytes recovered from medium (MF) or small follicles (SF) were considered meiotically more or less competent, respectively. A half of oocytes from each category was matured by the standard protocol. The oocytes were examined before or after maturation by confocal microscopy, a bioluminescent cell assay and Western blotting. Four experiments, each in triplicate, were performed to assess both SF and MF oocytes in terms of metabolic units formed by mitochondria and lipids, ATP and lipid consumption and lipid droplets with adipose differentiation-related protein (ADRP) expression. The proportion of oocytes with metabolic units, the mean ATP content and the number of lipid droplets per oocyte, and the relative number of lipid droplets with ADRP expression were significantly higher in the MF compared to SF oocytes before maturation. On the other hand, after maturation, there was an increase in the proportion of oocytes with metabolic units and the relative number of lipid droplets with ADRP expression in the SF compared to MF oocytes. In conclusion, specific differences in energy characteristics between porcine oocytes with different meiotic competence were found. Meiotically more competent oocytes are more advanced in terms of energy reserves before maturation, while meiotically less competent oocytes are more active in replenishing energy stores during maturation.

• MeSH
• energetický metabolismus fyziologie   MeSH
• IVM techniky veterinární   MeSH
• konfokální mikroskopie MeSH
• lipidová tělíska ultrastruktura   MeSH
• lipidy analýza   MeSH
• meióza fyziologie   MeSH
• membránové proteiny analýza   MeSH
• oocyty chemie   fyziologie   ultrastruktura   MeSH
• ovariální folikul anatomie a histologie   MeSH
• perilipin 2 MeSH
• Sus scrofa * MeSH
• zvířata MeSH
• Check Tag
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• lipidy MeSH
• membránové proteiny MeSH
• perilipin 2 MeSH

BACKGROUND: Predicted maturity offset, defined as time before peak height velocity (PHV) is increasingly used as an indicator of maturity status in studies of physical activity, fitness, and sport. OBJECTIVE: To validate maturity offset prediction equations in longitudinal samples of boys and girls. METHODS: The original and modified maturity offset prediction equations were applied to serial data for 266 boys (8-17 years) and 147 girls (8-16 years) from the Cracow Growth Study. Actual age at PHV for each youngster was estimated with the SITAR protocol. In addition to maturity offset, the difference between CA at prediction and maturity offset provided an estimate of predicted age at PHV. RESULTS: Predicted maturity offset and age at PHV increased, on average, with CA at prediction. Variation in predictions was reduced compared to that in observed ages at offset and at PHV, and was more apparent with the modified equations. Relatively few predicted ages at PHV approximated observed age at PHV in early and late maturing youth of both sexes; predictions were later than observed among the former, and earlier than observed among the latter. CONCLUSION: Predicted maturity offset and ages at PHV with the original and modified equations increase with CA at prediction, have reduced variation, and have major limitations with early and late maturing boys and girls.

• MeSH
• antropometrie MeSH
• cvičení MeSH
• lidé MeSH
• longitudinální studie MeSH
• mladiství MeSH
• sporty * MeSH
• tělesná výška * MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The processes underlying maturation of mammalian oocytes are considered crucial for the oocytes ability to undergo monospermic fertilization. The same factors of influence are suggested to impact the development of sex associated characteristics, allowing sex differentiation to progress during embryonic growth. The primary aim of the study was to analyze the gene ontology groups involved in regulation of porcine oocytes' response to endogenous stimuli. The results obtained would indicate potential genes influencing sex differentiation. Additionally, they could help to determine new genetic markers, expression profile of which is substantially regulated during porcine oocytes' in vitro maturation. To achieve that, porcine oocytes were collected for analysis before and after in vitro maturation. Pigs were used as they are a readily available model that presents significant similarity to humans in terms of physiology and anatomy. Microarray analysis of oocytes, before and after in vitro maturation was performed and later validated by RT-qPCR. We have particularly detected and analyzed genes belonging to gene ontology groups associated with hormonal stimulation during maturation of the oocytes, that exhibited significant change in expression (fold change ≥ |2|; p < 0.05) namely "Female sex differentiation" (CCND2, MMP14, VEGFA, FST, INHBA, NR5A1), "Response to endogenous stimulus" (INSR, ESR1, CCND2, TXNIP, TACR3, MMP14, FOS, AR, EGR2, IGFBP7, TGFBR3, BTG2, PLD1, PHIP, UBE2B) and "Response to estrogen stimulus" (INSR, ESR1, CCND2, IHH, TXNIP, TACR3, MMP14). Some of them were characteristic for just one of the described ontologies, while some belonged into multiple ontological terms. The genes were analyzed, with their relation to the processes of interest explained. Overall, the study provides us with a range of genes that might serve as molecular markers of in vitro maturation associated processes of the oocytes. This knowledge might serve as a reference for further studies and, after further validation, as a potentially useful knowledge in assessment of the oocytes during assisted reproduction processes.

• Klíčová slova
• In vitro maturation, Microarrays, Porcine oocyte, Sex differentiation,
• MeSH
• IVM techniky * MeSH
• oocyty růst a vývoj   MeSH
• prasata genetika   MeSH
• procesy určující pohlaví genetika   MeSH
• sekvenční analýza hybridizací s uspořádaným souborem oligonukleotidů MeSH
• výpočetní biologie MeSH
• vývojová regulace genové exprese * MeSH
• zvířata MeSH
• Check Tag
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

As previously suggested, preferences for kin body odor might undergo an adaptive change over the course of puberty in order to avoid potential inbreeding, resulting in aversion to body odor of the opposite-gender kin as individuals mature sexually. However, studies based on mutual body odor aversion are rather inconclusive. We therefore investigated whether children's reports of individuals smelling good or bad differed as a function of age and pubertal status. We asked 219 children (94 male) aged 10 to 15 years to assess their pubertal development using a standardized measure and to name individuals they thought smelled good or bad. Results of the present study show that the older the girls were, the more likely they were to name males than females among nice-smelling people. Further, in both girls and boys alike, children with higher puberty scores were more likely to name children than adults. Neither in girls nor in boys did we observe any concurrent effect of age or pubertal status on children's reports of persons thought to smell bad. Irrespective of whether these changes are driven by age itself or age-related phenomena, these results suggest a shift toward a more general positive attitude to peers rather than active kin avoidance.

• Klíčová slova
• Tanner puberty stages, adolescence, chemosensory, development, hedonic perception, incest avoidance, individual differences, self-reports, sexual maturation, smell,
• MeSH
• čichová percepce * MeSH
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• odoranty * MeSH
• pohlavní dospělost * MeSH
• stárnutí psychologie   MeSH
• tělesná konstituce MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

This paper aims to identify and describe new genetic markers involved in the processes of protein expression and modification reflected in the change of mitochondrial activity before and after in vitro maturation of the oocyte. Porcine oocytes collected from the ovaries of slaughtered landrace gilts were subjected to the process of in vitro maturation. Transcriptomic changes in the expression profile of oocyte genes involved in response to hypoxia, the transmembrane protein receptor serine threonine kinase signaling pathway, the "transforming growth factor β receptor signaling pathway", "response to protein stimulus", and "response to organic substance" were investigated using microarrays. The expression values of these genes in oocytes was analyzed before (immature) and after (mature) in vitro maturation, with significant differences found. All the significantly altered genes showed downregulation after the maturation process. The most changed genes from these gene ontologies, FOS, ID2, VEGFA, BTG2, CYR61, ESR1, AR, TACR3, CCND2, CHRDL1, were chosen to be further validated, described and related to the literature. Additionally, the mitochondrial activity of the analyzed oocytes was measured using specific dyes. We found that the mitochondrial activity was higher before the maturation process. The analysis of these results and the available literature provides a novel insight on the processes that occur during in vitro oocyte maturation. While this knowledge may prove to be useful in further research of the procedures commonly associated with in vitro fertilization procedures, it serves mostly as a basic reference for further proteomic, in vivo, and clinical studies that are necessary to translate it into practical applications.

• Klíčová slova
• microarray, mitochondrial activity, oocyte maturation, pig,
• MeSH
• hypoxie buňky genetika   MeSH
• IVM techniky MeSH
• kultivované buňky MeSH
• mitochondrie genetika   metabolismus   MeSH
• oocyty cytologie   metabolismus   MeSH
• oogeneze genetika   MeSH
• prasata MeSH
• signální transdukce MeSH
• transformující růstový faktor beta metabolismus   MeSH
• transkriptom * MeSH
• tyrosinkinasové receptory metabolismus   MeSH
• zvířata MeSH
• Check Tag
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• transformující růstový faktor beta MeSH
• tyrosinkinasové receptory MeSH

Estimated ages at take-off (TO) and at peak height velocity (PHV) based on two models and maturity status based upon age at PHV and skeletal age (SA) were compared in a longitudinal sample of male soccer players. In addition, estimated ages at PHV in 13 longitudinal samples of soccer players were compared. The longitudinal height records of 58 players of European ancestry, measured annually on four or five occasions between 11 and 16 years, were modeled with Superimposition by Translation and Rotation (SITAR) and Functional Principal Component Analysis (FPCA) to estimate ages at TO and PHV. SAs were assessed with the Fels method. Ages at PHV in 13 longitudinal samples of soccer players (Europe 7, Japan 6) were evaluated with meta-analysis. Estimated ages at TO, 11.2 ± 0.8 (SITAR) and 11.0 ± 0.8 (FCPA) years, and at PHV, 13.6 ± 0.9 (SITAR) and 13.7 ± 0.0 (FCPA) years, were similar. An earlier age at PHV was associated with advanced skeletal maturity status (rho = -0.77 at ~14 years). Ages at PHV among European players indicated a north (later) - south (earlier) gradient, and were later than ages at PHV among Japanese players. In summary, ages at TO and PHV were similar with SITAR and FPCA, and ages at PHV were most strongly correlated with SA at ~14 years. Mean ages at PHV showed a north-south gradient among European samples, and were later compared to Japanese samples.

• Klíčová slova
• Adolescent Spurt, Maturity Status, Maturity Timing, Talent Identification, Youth Athletes,
• Publikační typ
• časopisecké články MeSH

Redox status plays a multifaceted role in the intricate physiology and pathology of pancreatic beta-cells, the pivotal regulators of glucose homeostasis through insulin secretion. They are highly responsive to changes in metabolic cues where reactive oxygen species are part of it, all arising from nutritional intake. These molecules not only serve as crucial signaling intermediates for insulin secretion but also participate in the nuanced heterogeneity observed within the beta-cell population. A central aspect of beta-cell redox biology revolves around the localized production of hydrogen peroxide and the activity of NADPH oxidases which are tightly regulated and serve diverse physiological functions. Pancreatic beta-cells possess a remarkable array of antioxidant defense mechanisms although considered relatively modest compared to other cell types, are efficient in preserving redox balance within the cellular milieu. This intrinsic antioxidant machinery operates in concert with redox-sensitive signaling pathways, forming an elaborate redox relay system essential for beta-cell function and adaptation to changing metabolic demands. Perturbations in redox homeostasis can lead to oxidative stress exacerbating insulin secretion defect being a hallmark of type 2 diabetes. Understanding the interplay between redox signaling, oxidative stress, and beta-cell dysfunction is paramount for developing effective therapeutic strategies aimed at preserving beta-cell health and function in individuals with type 2 diabetes. Thus, unraveling the intricate complexities of beta-cell redox biology presents exciting avenues for advancing our understanding and treatment of metabolic disorders.

• MeSH
• beta-buňky * metabolismus   MeSH
• diabetes mellitus 2. typu metabolismus   MeSH
• homeostáza fyziologie   MeSH
• inzulin metabolismus   MeSH
• lidé MeSH
• oxidace-redukce * MeSH
• oxidační stres * fyziologie   MeSH
• reaktivní formy kyslíku metabolismus   MeSH
• sekrece inzulinu fyziologie   MeSH
• signální transdukce fyziologie   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• inzulin MeSH
• reaktivní formy kyslíku MeSH

Epilepsy is a complex disorder affecting the central nervous system and is characterised by spontaneously recurring seizures (SRSs). Epileptic patients undergo symptomatic pharmacological treatments, however, in 30% of cases, they are ineffective, mostly in patients with temporal lobe epilepsy. Therefore, there is a need for developing novel treatment strategies. Transplantation of cells releasing γ-aminobutyric acid (GABA) could be used to counteract the imbalance between excitation and inhibition within epileptic neuronal networks. We generated GABAergic interneuron precursors from human embryonic stem cells (hESCs) and grafted them in the hippocampi of rats developing chronic SRSs after kainic acid-induced status epilepticus. Using whole-cell patch-clamp recordings, we characterised the maturation of the grafted cells into functional GABAergic interneurons in the host brain, and we confirmed the presence of functional inhibitory synaptic connections from grafted cells onto the host neurons. Moreover, optogenetic stimulation of grafted hESC-derived interneurons reduced the rate of epileptiform discharges in vitro. We also observed decreased SRS frequency and total time spent in SRSs in these animals in vivo as compared to non-grafted controls. These data represent a proof-of-concept that hESC-derived GABAergic neurons can exert a therapeutic effect on epileptic animals presumably through establishing inhibitory synapses with host neurons.

• Klíčová slova
• GABA, cell integration, epilepsy, human embryonic stem cells, interneurons, optogenetics, synaptic integration,
• MeSH
• GABA metabolismus   MeSH
• hipokampus metabolismus   patologie   MeSH
• interneurony cytologie   metabolismus   MeSH
• kmenové buňky cytologie   metabolismus   MeSH
• krysa rodu Rattus MeSH
• kultivované buňky MeSH
• kyselina kainová škodlivé účinky   MeSH
• lidé MeSH
• modely nemocí na zvířatech MeSH
• recidiva MeSH
• status epilepticus chemicky indukované   metabolismus   patologie   terapie   MeSH
• transplantace kmenových buněk metody   MeSH
• záchvaty chemicky indukované   metabolismus   patologie   terapie   MeSH
• zvířata MeSH
• Check Tag
• krysa rodu Rattus MeSH
• lidé MeSH
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• GABA MeSH
• kyselina kainová MeSH