In the present study, Pušnik et al. investigated whether the XBB.1.
View Article and Find Full Text PDFIntroduction: Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and genetically heterogeneous disorder. Deleterious variants in over 50 genes have been implicated in the etiology of IHH, which also indicates a possible role of digenicity and oligogenicity. Both classes of genes controlling GnRH neuron migration/development and hypothalamic/pituitary signaling and development are strongly implicated in nIHH pathogenesis.
View Article and Find Full Text PDFSuspension cells derived from human embryonic kidney cells (HEK 293) are attractive cell lines for retroviral vector production in gene therapeutic development studies and applications. The low-affinity nerve growth factor receptor (NGFR) is a genetic marker frequently used as a reporter gene in transfer vectors to detect and enrich genetically modified cells. However, the HEK 293 cell line and its derivatives endogenously express the NGFR protein.
View Article and Find Full Text PDFThe removal of RNA primers is essential for mitochondrial DNA (mtDNA) replication. Several nucleases have been implicated in RNA primer removal in human mitochondria, however, no conclusive mechanism has been elucidated. Here, we reconstituted minimal in vitro system capable of processing RNA primers into ligatable DNA ends.
View Article and Find Full Text PDFThis paper describes the effect of calcination temperature on the phase composition, chemical composition, and morphology of ZrO and AlO powders modified with 3-aminopropyltriethoxysilane (APTES). Both ceramic powders were modified by etching in piranha solution, neutralization in ammonia water, reaction with APTES, ultrasonication, and finally calcination at 250, 350, or 450 °C. The obtained modified powders were characterized using X-ray diffraction (XRD), Fourier transform infrared (FTIR) spectroscopy, particle size distribution (PSD), scanning electron microscopy with energy-dispersive X-ray spectroscopy (SEM/EDS), and thermogravimetric analysis (TGA).
View Article and Find Full Text PDFKallmann syndrome (KS) is a combination of isolated hypogonadotropic hypogonadism (IHH) with olfactory dysfunction, representing a heterogeneous disorder with a broad phenotypic spectrum. The genetic background of KS has not yet been fully established. This study was conducted on 46 Polish KS subjects (41 males, 5 females; average age: 29 years old).
View Article and Find Full Text PDFShoulder arthroplasty (SA) has improved significantly over the last twenty years. It offers the effective treatment for patients with severe shoulder dysfunctions. The indicationsfor this procedure have recently expanded tremendously.
View Article and Find Full Text PDFThe intestinal microflora plays an important role in the proper functioning of human. It is complex, diverse and dynamic ecosystem that constantly strives to maintain homeostasis throughout the body. The process of acquiring intestinal microflora begins immediately after human birth.
View Article and Find Full Text PDFThe outbreak of coronavirus disease 2019 (COVID-19) generated a huge pressure on health care systems worldwide and exposed their lack of preparation for a major health crisis. In the times of a respiratory disease pandemic, members of the dental profession, due to having a direct contact with the patients' oral cavity, body fluids and airborne pathogens, are exposed to a great occupational hazard of becoming infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The authors carried out a systematic literature search using the main online databases (PubMed, Google Scholar, MEDLINE, UpToDate, Embase, and Web of Science) with the following keywords: "COVID-19," "2019-nCoV," "coronavirus," "SARS-CoV-2," "dental COVID-19," "dentistry COVID-19," "occupational hazards dentistry," "ventilation," "air disinfection," "airborne transmission," "hydrogen peroxide disinfection," "UV disinfection," "ozone disinfection," "plasma disinfection," and "TiO disinfection.
View Article and Find Full Text PDFObjective: The monitoring of the populations' iodine status is an essential part of successful programmes of iodine deficiency elimination. The current study aimed at the evaluation of current iodine nutrition in school children, pregnant and lactating women as a marker of the effectiveness and sustainability of mandatory iodine prophylaxis in Poland.
Design: The following iodine nutrition indicators were used: urinary iodine concentration (UIC) (all participants) and serum thyroglobulin (pregnant and lactating women).
In this work, two kinds of silicon nitride-based composites, namely, those with titanium nitride or silicon carbide additives, were sintered using the hot pressing technique (HP). The phase composition, microstructure, and mechanical and elastic properties of the materials were characterized. Three-dimensional geometric models of the composites were created on the basis of microstructure parameters.
View Article and Find Full Text PDFPOLG2 associated disorders belong to the group of mitochondrial DNA (mtDNA) diseases and present with a heterogeneous clinical spectrum, various age of onset, and disease severity. We report a 39-year old female presenting with childhood-onset and progressive neuroophthalmic manifestation with optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea associated with mtDNA depletion. Whole-exome sequencing identified an ultra-rare homozygous missense mutation located at Chr17: 062474101-C > A (p.
View Article and Find Full Text PDFIn the elderly, there is a reduction of the efficiency in many organs, including muscles. The weight, strength and power reduction of elderly muscles is defined as sarcopenia. The pathophysiology of sarcopenia is multifactorial, it can be influenced by intrinsic and extrinsic factors such as reduced caloric intake, denervation of muscle fibers - in the course of various neurodegenerative diseases, intracellular oxidative stress, hormonal disorders and others.
View Article and Find Full Text PDFThe activity of type II toxin-antitoxin systems (TA), which are responsible for many important features of bacterial cells, is based on the differences between toxin and antitoxin stabilities. The antitoxin lability results from bacterial protease activity. Here, we investigated how particular Escherichia coli cytosolic proteases, namely, Lon, ClpAP, ClpXP, and ClpYQ, affect the stability of both the toxin and antitoxin components of the parDE system from the broad host range plasmid RK2.
View Article and Find Full Text PDFPlasmids, as extrachromosomal genetic elements, need to work out strategies that promote independent replication and stable maintenance in host bacterial cells. Their maintenance depends on constant formation and dissociation of nucleoprotein complexes formed on plasmid DNA. Plasmid replication initiation proteins (Rep) form specific complexes on direct repeats (iterons) localized within the plasmid replication origin.
View Article and Find Full Text PDFAutism spectrum disorder (ASD) is a group of neurodevelopmental conditions characterized by difficulties in communication and social interactions, restricted, repetitive behaviors and sensory abnormalities. Notably, the vast majority of individuals with ASD experience some degree of auditory dysfunction and we have recently reported consistent hypoplasia and dysmorphology in auditory brainstem centers in individuals with ASD. Prenatal exposure to the antiepileptic drug valproic acid (VPA) is associated with an increased risk of ASD.
View Article and Find Full Text PDFNeuroscience
December 2015
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties with communication and social interactions, restricted, repetitive behaviors and sensory abnormalities. Additionally, the vast majority of subjects with ASD suffer some degree of auditory dysfunction and we have previously identified significant hypoplasia and dysmorphology in auditory brainstem centers in individuals with ASD. Prenatal exposure to the antiepileptic drug valproic acid (VPA) is associated with an increased risk of ASD.
View Article and Find Full Text PDFBackground: European bison is the largest mammal in Europe with the population of approximately 4000 individuals. However, there is no report of post-mortem spermatozoa collection and cryopreservation from this species and the aim of this study was to test if the epididymal spermatozoa collected post-mortem from European bison are suitable for cryopreservation and artificial insemination (AI).
Methods: Epididymides were collected post-mortem from two European bison bulls at age of 8 (bull 1) and 11 year (bull 2).
The aim of this study was to estimate the effects of Equex STM on sperm motion characteristics in chilled dog semen extended in Tris-based diluent. Thirty-two ejaculates were collected from 12 proven German shepherd stud dogs. The sperm-rich fractions were diluted in Tris-based extender with 1% (v/v) Equex STM (sample A) and in Tris-based extender with no addition of detergent (sample B).
View Article and Find Full Text PDFThe aim of the present study was to assess the effect of dimethylsulfoxide (DMSO) and acetamide on the post-thaw properties of hare semen and to perform an AI trial with frozen-thawed semen. Semen was collected under general anaesthesia by the electroejaculation method from 6 males. Immediately after collection, the semen was diluted with an extender containing the following components: 250 mM Tris, 80 mM citric acid, 70 mM glucose, 1.
View Article and Find Full Text PDFWe report here on a case of a Holstein-Friesian male calf with the congenital total absence of thoracic limbs (amelia). Cytogenetic study showed a high rate of chromosome instability, represented by chromosome or chromatid breaks and gaps in 46% of the analyzed metaphase spreads. Moreover, 12% of the spreads appeared to be polypolid.
View Article and Find Full Text PDFThe aim of our study was to estimate the viability of cat epididymal sperm in short time storage at +4 degrees C and in long term storage at -196 degrees C and to assess the percentage of live sperm in fresh semen using eosin/nigrosin staining compared to the flow cytometry method. The testes with epididymides were obtained after routine castration procedure. The sperm for further research were collected after flushing the epididymides using extender consist of: Tris 2.
View Article and Find Full Text PDFIn the last decades, a significant decrease in hare population has been observed; for this reason, the aim of the study was to check if hare semen could be preserved in liquid nitrogen, with an extender used for rabbit semen. The results should provide a basis for creating a gene bank of the species. Ten ejaculates (volume above 0.
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