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Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique. We have enrolled 41 patients (36 males and 5 females) with infertility problems or delayed puberty. We included the patients with hypogonadotropic hypogonadism (n = 12), hypergonadotropic hypogonadism (n = 15), abnormal sperm parameters (n = 10), androgen insensitivity syndrome (n = 3) and 46,XY gonadal dysgenesis (n = 1). Genetic tests were performed using targeted NGS panel of 35 genes implicated in fertility. Pathogenic or likely pathogenic variants potentially explaining the clinical phenotype were identified in 12 of 41 patients (29%). These included 9 of 12 patients (75%) with hypogonadotropic hypogonadism, 2 of 3 patients (66%) with androgen insensitivity syndrome, and the single patient with 46,XY gonadal dysgenesis. Among the 18 identified variants, 4 were novel (FGF8:p.Ala147Thr; SEMA3A:p.Arg544Cys; FGFR1:p.Thr141IlefsTer10; NSMF: p.Tyr242Cys), while 14 were recurrent. Our study expands the knowledge of the genetic basis of the infertility disorders and highlights the importance of genetic testing for proper diagnosis making and genetic counselling., Competing Interests: Declarations. Ethics approval: This study complies with the latest Declaration of Helsinki and was approved by the Bioethical Committee of the Institute of Mother and Child, Warsaw, Nr 22/2019. Consent to participate: Informed consent to participate was obtained from all subjects involved in the study. Consent for publication: Consent for publication was received from all the patients enrolled in the study. Competing interests: The authors declare no competing interests., (© 2025. The Author(s), under exclusive licence to Institute of Plant Genetics Polish Academy of Sciences.)

The results of relativistic calculations of nuclear magnetic resonance shielding tensors (σ) for the thallium monocation (Tl+), thallium hydride (TlH), and thallium halides (TlF, TlCl, TlBr, TlI, and TlAt) are presented as obtained within a four-component polarization propagator formalism and a two-component linear response approach within the zeroth-order regular approximation. In addition to a detailed analysis of relativistic effects performed in this work, some quantum electrodynamical (QED) effects on those nuclear magnetic resonance shieldings and other small contributions are estimated. A strong dependence of σ(Tl) on the bonding partner is found, together with a very weak dependence of QED effects with them. In order to explain the trends observed, the excitation patterns associated with relativistic ee (or paramagnetic-like) and pp (or diamagnetic-like) contributions to σ are analyzed. For this purpose, the electronic spin-free and spin-dependent contributions are separated within the two-component zeroth-order regular approximation, and the influence of spin-orbit coupling on involved molecular orbitals is studied, which allows for a thorough understanding of the underlying mechanisms., (© 2024 Author(s). Published under an exclusive license by AIP Publishing.)

Objective: Evaluation of serum lactadherin level, its correlation with disease activity and certain biochemical parameters in IBD patients., Methods: The study involved adult IBD patients, comprising 50 with ulcerative colitis (UC), 68 with Crohn's disease (CD), and 29 healthy controls., Results: The MFGE8 median concentration was significantly higher in UC versus controls (1914.54 vs. 1392.21; p = 0.017), but not in CD. The median MFGE8 levels in UC and CD patient groups didn't significantly differ. There was a significant inverse correlation between MFGE8 and CRP (r = -0.283; p = 0.044) and fibrinogen (r = -0.362, p = 0.017) in UC. In active UC, MFGE8 median concentration was higher versus controls (1974.36 vs. 1392.21; p = 0.04) and negatively correlated with CRP (r = -0.482; p = 0.005), WBC (r = -0.391; p = 0.027), and fibrinogen (r = -0.473; p = 0.015). Inactive UC showed negative correlation only with fibrinogen (r = -0.567; p = 0.018). No correlations were found with disease activity measured using appropriate scales, age, BMI, or gender., Conclusions: Active UC patients show higher MFGE8 levels. These increase inversely with inflammatory markers (CRP, WBC, fibrinogen) in active UC, but not in CD.

Discrepancies in rainfall chemistry in Bellsund were found to be influenced by the orographic barrier and related to the variability in the inflow of air masses as well as to the distance of sampling sites from the sea and thus the extent of sea spray impact. This study covers measurements of rainfall (P) and air temperature (T), physicochemical parameters (pH, specific electrolytic conductivity (SEC), major ions (Cl - , NO 3 - ) and elements (Na, Ca, Mg,K), as well as trace elements (i.a. As, Cd, Cr, Fe, Co, Pb, Ni, Zn) and dissolved organic carbon (DOC) in 22 rainfall samples collected in August on the Calypsostranda marine terrace and in the forefield of a land-terminating glacier (NW Wedel Jarlsberg Land). The comparison of chemical parameters in the samples revealed major discrepancies, including statistically significant higher rainwater pH and SEC, and the levels of Ag, As, Bi, Ca, Co, Fe, Li, Mn, Mo, Ni, Pb, Sb, and V, deposited near the seashore (Calypsostranda) than in the glacier forefield. Cluster analysis (CA) showed that elements deposited in lower concentrations at the glacier forefield site came from predominately anthropogenic sources. Conversely, CA results of metals and metalloids deposited on the Calypsostranda marine terrace indicate both natural and anthropogenic sources. A correlation matrix and principal component analysis (PCA) permitted identifying two primary factors affecting rainfall chemistry at each of the study sites. In Calypsostranda, these were the inflow of relatively unpolluted cold air (F1 = 35.1%) and sea spray (F2 = 27.6%), while in the glacier forefield the factors were an orographic barrier (F1 = 37.3%) and the inflow of polluted warm air (F2 = 25.2%).4 2- ) and elements (Na, Ca, Mg,K), as well as trace elements (i.a. As, Cd, Cr, Fe, Co, Pb, Ni, Zn) and dissolved organic carbon (DOC) in 22 rainfall samples collected in August on the Calypsostranda marine terrace and in the forefield of a land-terminating glacier (NW Wedel Jarlsberg Land). The comparison of chemical parameters in the samples revealed major discrepancies, including statistically significant higher rainwater pH and SEC, and the levels of Ag, As, Bi, Ca, Co, Fe, Li, Mn, Mo, Ni, Pb, Sb, and V, deposited near the seashore (Calypsostranda) than in the glacier forefield. Cluster analysis (CA) showed that elements deposited in lower concentrations at the glacier forefield site came from predominately anthropogenic sources. Conversely, CA results of metals and metalloids deposited on the Calypsostranda marine terrace indicate both natural and anthropogenic sources. A correlation matrix and principal component analysis (PCA) permitted identifying two primary factors affecting rainfall chemistry at each of the study sites. In Calypsostranda, these were the inflow of relatively unpolluted cold air (F1 = 35.1%) and sea spray (F2 = 27.6%), while in the glacier forefield the factors were an orographic barrier (F1 = 37.3%) and the inflow of polluted warm air (F2 = 25.2%)., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Eating disorders among children and youth are a serious social problem. The time of development is the starting point in shaping eating patterns. Proper nutrition provides the basis for psychophysical development. A knowledgeable pediatrician can improve society's health by engaging parents and, later, the child or youth. We offer knowledge on the nutrition basics and the commonly available tools to assess the nutritional status. We will discuss the characteristics of eating and body mass disorders in developing children. We will provide information on the warning signals of eating and body mass disorders and recommend prophylaxis. The reader will be familiarized with the motivational dialogue as an effective control tool for the discussed health issues.

The indirect spin-spin coupling tensor, J, between mercury nuclei in systems containing this element can be of the order of a few kHz and one of the largest measured. We analyzed the physics behind the electronic mechanisms that contribute to the one- and two-bond couplings n J Hg-Hg (n = 1, 2). For doing so, we performed calculations for J-couplings in the ionized X 2 2+ and X 3 2+ linear molecules (X = Zn, Cd, Hg) within polarization propagator theory using the random phase approximation and the pure zeroth-order approximation with Dirac-Hartree-Fock and Dirac-Kohn-Sham orbitals, both at four-component and zeroth-order regular approximation levels. We show that the "paramagnetic-like" mechanism contributes more than 99.98% to the total isotropic value of the coupling tensor. By analyzing the molecular and atomic orbitals involved in the total value of the response function, we find that the s-type valence atomic orbitals have a predominant role in the description of the coupling. This fact allows us to develop an effective model from which quantum electrodynamics (QED) effects on J-couplings in the aforementioned ions can be estimated. Those effects were found to be within the interval (0.7; 1.7)% of the total relativistic effect on isotropic one-bond 1 J coupling, though ranging those corrections between the interval (-0.4; -0.2)% in Zn-containing ions, to (-1.2; -0.8)% in Hg-containing ions, of the total isotropic coupling constant in the studied systems. The estimated QED corrections show a visible dependence on the nuclear charge Z of each atom X in the form of a power-law proportional to Z X 5 .

Dietary fatty acids (FA) have an effect on animal reproduction. The purpose of the study was to find out how supplemental flaxseed can modulate the FA metabolism and how FA can influence the release of ovarian hormones and functions of the uteri through the modulation of their specific receptors. Cycling mice were fed a basal diet (control) and basal diet fortified with 10% flaxseed for 6 weeks to examine its influence on the structure and function of the ovaries and uteri, and serum levels of FA. Unlike controls (30%), 100% of mice fed flaxseed exposed oestrus at the end of the supplemental period. Serum FA were analysed using gas chromatography. The ovaries and uteri underwent histological and immunohistochemical analyses, respectively. The ovarian fragments were cultured with or without follicle-stimulating hormone and culture media were analysed for progesterone (P4) and oestradiol-17β (E2) using immunoassays. Dietary flaxseed increased the serum FA concentration, sizes of the ovaries and primary follicles, the release of P4 and E2, the thickness of endometrium and myometrium, and altered the expression of oestrogen and progesterone receptors in all uterine compartments. Dietary flaxseed can promote ovarian steroidogenesis and uterine activity in the mouse.

Carbon monoxide (CO) has been proposed as a chemical light signal and neural system modulator via heme oxygenases -1 and -2 (HO-1 and HO-2). Many papers have proven the CO-HO circuit to be important for such physiological pathways as the molecular biological clock and the GnRH axis, but also in such pathological occurrences as ischemic injuries, or inflammation as a regenerative and neuroprotective factor. In this in vivo experiment, we used three groups of pigs: control-housed in natural conditions without any procedures; without CO-adapted and kept in constant darkness, infused with blank plasma; and with CO-adapted and kept in constant darkness infused with CO-enriched plasma. After the experiments, each animal was slaughtered and its eyes were collected for further analysis. Quantitative PCR and Western blot analysis were performed to show statistical differences in the expressions between the experimental groups. Our data revealed that exogenous CO is regulator of mRNA transcription for HO-1 and HO-2 and PCNA . Moreover, the mRNA abundance of analyzed factors in the experimental group after CO elevation revealed a restored gene-expression level similar to the control group, which we had observed in the group's restored protein level after CO elevation. In conclusion, exogenous CO regulates HO's and PCNA gene expression on transcriptional and translational levels in a similar way as a light cue.

Autism spectrum disorder is characterized by social communication deficit and non-normative behavior. The people with autism often experience troubles with feeding. The purpose of this study was to conduct evaluation of the feeding and eating behaviors among children with autism., Patients and Methods: The study group included 41 high-functioning autistic children. The control group consisted of 34 children without the ASD. The questionnaire was used to assess the nutritional status., Results: The children with ASD fuss during mealtimes more frequently, they require entertaining and diverting their attention, they are fed by parents, and they consume their meals away from the table. The significant difference found in the use of utensils and food selectivity works to the disadvantage of the Study Group., Conclusions: The food selectivity occurs significantly more frequently among children with ASD. The feeding and eating problems should be considered on a wider scale. The cooperation of the multidisciplinary and the parents teams should be proposed in the ASD patients care.

The numerical simulations of Cu Kα and Cu Kβ fluorescence lines induced by Rh X-ray tube and by monoenergetic radiation have been presented. The copper Kβ/Kα intensity ratios for pure elements as well as for Ag-Cu alloys have been modeled. The results obtained by use of the FLUKA code, based on the Monte-Carlo approach, have been compared to available experimental and theoretical values. A visible relationship was found between the simulated Kβ/Kα intensity ratios and the copper content of the Ag-Cu alloy: as the Cu content increases, the Kβ/Kα coefficient decreases. The results can play role in elemental material analysis, especially in archaeometry.

Autism Spectrum Disorder (ASD) is the most recognized neuropsychiatric disorder of childhood. Comorbid conditions (such as feeding disorders) are more common among people with autism than among the general population. The most frequent somatic disorders in autistic children include the gastrointestinal disorders observed in 46-91% of patients. The purpose of this study was the evaluation of the nutrition of children with autism, with particular emphasis placed on feeding in the first year of life, in comparison to the group of healthy peers. Participants included 75 Caucasian children (41 children diagnosed with pure autism, and the control group consisting of 34 children without autistic traits). The analysis was performed based on a questionnaire of own design with the first part devoted to the eating practices of the early infancy. Results: Autistic children, as compared to the healthy peers, presented a shortened time of breastfeeding (the children fell asleep at the breast) ( p = 0.04), a delayed introduction of dairy products ( p = 0.001), the need of more trials to introduce new foods ( p = 0.006), a delayed introduction of foods with solid and lumpy structure ( p = 0.004), a longer duration of bottle feeding ( p = 0.005), delayed attempts to eating using own hands ( p = 0.006) and needed a greater support of parents to divert their attention from food during eating ( p = 0.05). Conclusions: 1. The dietary problems are more common among children with the autism spectrum disorder than among the population of healthy children, during the first year of life from the time of introducing the complementary foods. 2. The autistic children experience difficulties with eating and require their parents' additional involvement significantly more often than their healthy peers.

The parents' addictions and eating habits have a significant influence on the child's growth. The first stool of a newborn baby provides a large amount of information about xenobiotics transmitted by the mother's body. The analytical technique used in the study is ion chromatography with pulsed amperometric detection (IC-PAD). The biological samples, which were obtained from women staying in a maternity ward and their partners, revealed cyanide concentrations in urine samples spanning 1.30-25.3 μg L -1 . Meanwhile, the results of the meconium samples were in the range of 1.54 μg L -1 to 24.9 μg L -1 . Under the optimized chromatographic conditions, the IC-PAD system exhibited satisfactory repeatability (R < 3%, n = 3) and good linearity in the range of 1-100 μg L -1 . Thus, it proved to be an effective tool for monitoring trace cyanide concentration in a series of human body fluid matrices, including meconium. Based on the literature review, this is the first application of the IC-PAD analytical technique for the determination of cyanide ions in meconium samples.

Xylene is a common pollutant in the environment that enters the body of animals and humans in various ways, but most often through the respiratory tract and adversely affects their overall health. However, xylene effects after oral exposure have not been sufficiently studied. This study aimed to investigate the effects of xylene exposure on the mouse organism and to identify possible beneficial effects of flaxseed on such exposure. Eighty mice were divided into four groups: control group C (basal diet + no xylene exposure), group X (oral exposure by 400 mg/kg/day xylene), group F (10% flaxseed supplementation of basal diet), and group XF (10% dietary flaxseed + oral exposure by xylene). Experimental trial took 14 days. Clinical examination, spectroscopic analysis of tissue aminotransferases, total lactate dehydrogenase (TLDH), and acetylcholinesterase (AchE) activities, electrophoretic analysis of LDH isoenzymes, western blot and immunohistochemical analysis of apoptosis as well as routine histology of the kidneys and jejunum, and transmission electron microscopy of the liver were performed. Marked restlessness in group X and high weight losses in mice of all groups were recorded during the experiment. Xylene promoted apoptosis (caspase-3 expression) without causing marked structural changes in the liver and jejunum, although renal cortex structure was affected adversely. In the brain, liver, and kidney of mice, xylene increased levels of liver transaminases, LDH, and decreased AchE activities, reflecting cell membrane damage. Flaxseed feeding improved animal behaviour, leakage of enzymes and prevented selected tissue toxic damage induced by xylene by protecting cell membrane integrity and fluidity and by suppressing apoptosis. These results point at the protective effect of flaxseed consumption on mice., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 The Author(s).)

Circadian clock genes are found in almost every cell that has a nucleus; they regulate the rhythmic nature of all processes that are cyclical. Among the genes controlled by the circadian clock, there are numerous factors that regulate key processes in the functioning of the cell. Disturbances in the functioning of the circadian clock are associated with numerous disorders. A recent study has shown the key role of H 2 S in regulating circadian rhythm. In this study, we investigated the in vitro effect of pharmacological inhibition of cystathionine-β-synthase (CBS) and/or cystathionine-γ-lyase (CSE) on the circadian dynamics of Per2 expression in serum-shocked NIH-3T3 cells. Alternatively, Cbs and Cse were knocked down by transfection with siRNA. The 48-h treatment of serum-shocked NIH-3T3 cells with 1 mM dl-propargylglycine (PAG), a specific CSE inhibitor, significantly decreased the amplitude and baseline expression of Per2. During exposure to an effective CBS and CSE inhibitor (aminooxyacetic acid [AOAA]), the amplitude of oscillation and baseline expression of Per2 significantly increased. Incubation of NIH-3T3 cells with both inhibitors also significantly increased the amplitude and baseline expression of Per2 messenger RNA (mRNA). siCbs or siCse knockdowan significantly reduced the baseline and amplitude of oscillation of Per2. In conclusion, we showed that CBS/CSE/H 2 S pathway participates in the regulation of the circadian clock system. PAG and AOAA, change the general expression and dynamics of Per2 genes, but the increase of amplitude and overall Per2 mRNA level due to exposure to AOAA is probably caused by factors other than CBS and CSE activity., (Copyright © 2020 Elsevier Inc. All rights reserved.)