Novel and recurrent genetic variants associated with male and female infertility.

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.

Case report: Cochlear implantation for deafness caused by endolymphatic sac tumors in patients with von Hippel-Lindau syndrome.

Introduction: Endolymphatic sac tumors (ELSTs) are rare neuroectodermal neoplasms that originate in the endolymphatic sac and duct. They exhibit no specific age or gender predilection, although they are more prevalent in patients with von Hippel-Lindau syndrome.

Material And Methods: The manuscript preparation adhered to the CARE guidelines for standardizing clinical cases and the PRISMA guidelines for scientific reviews.

Biodiversity of microorganisms in the Baltic Sea: the power of novel methods in the identification of marine microbes.

Until recently, the data on the diversity of the entire microbial community from the Baltic Sea were relatively rare and very scarce. However, modern molecular methods have provided new insights into this field with interesting results. They can be summarized as follows.

The Impact of the Methacrylation Process on the Usefulness of Chitosan as a Biomaterial Component for 3D Printing.

Chitosan is a very promising material for tissue model printing. It is also known that the introduction of chemical modifications to the structure of the material in the form of methacrylate groups makes it very attractive for application in the bioprinting of tissue models. The aim of this work is to study the characteristics of biomaterials containing chitosan (BCH) and its methacrylated equivalent (BCM) in order to identify differences in their usefulness in 3D bioprinting technology.

A Series of Novel 1--isoindole-1,3(2)-dione Derivatives as Acetylcholinesterase and Butyrylcholinesterase Inhibitors: In Silico, Synthesis and In Vitro Studies.

The derivatives of isoindoline-1,3-dione are interesting due to their biological activities, such as anti-inflammatory and antibacterial effects. Several series have been designed and evaluated for Alzheimer's therapy candidates. They showed promising activity.

High performance removal of chlorophenols from an aqueous solution using an enzymatic membrane bioreactor.

Organochlorides and particularly chlorophenols are environmental pollutants that deserve special attention. Enzymatic membrane bioreactors may be alternatives for efficiently removing such hazardous organochlorides from aqueous solutions. We propose here a novel enzymatic membrane bioreactor comprising an ultrafiltration membrane GR81PP, electrospun fibers made of cellulose acetate, and laccase immobilized using an incubation and a fouling approach.

Biodiversity of autotrophic euglenids based on the group specific DNA metabarcoding approach.

This study reports a comprehensive analysis of photoautotrophic euglenids' distribution and biodiversity in 16 small water bodies of various types (including fish ponds, field ponds, rural ponds and park ponds) located in three regions of Poland: Masovia, Masuria and Pomerania during a period of three years. By employing a euglenid specific barcode marker and a curated database of V2 18S rDNA sequences it was possible to identify 97.7 % of euglenid reads at species level.

New Prospects on Neuroimaging in Von Hippel Lindau Disease-A Narrative Review.

(1) Background: Hemangiomas in Von Hippel-Lindau (VHL) syndrome patients are typically benign but pose threats due to their vital locations involving the central nervous system and the retina. An MRI is currently recommended as the gold standard for tumors associated with VHL in the head region. This narrative review aims to comprehensively outline current standards and recent findings related to imaging of retinal and CNS hemangiomas in Von Hippel-Lindau syndrome.

Discovery of a new photosynthetic euglenoid in Poland: Euglena mazurica sp. nov. (Euglenales, Euglenaceae).

Herein we describe a new photosynthetic euglenoid species found in Poland - Euglena mazurica. A large population exists in a small, eutrophic body of water located in a pasture near Mikołajki town inside the Masurian Landscape Park (covering a part of the Masurian Lake District in Poland). The unique cell shape (corkscrew-like) discerns it well from other previously described euglenoid species with metabolic cells.

Hypogonadism - when does genetic diagnosis help in therapy?

Objectives: The objective of the study was to describe phenotype-genotype correlation in selected cases with infertility and emphasise the importance of genetic testing as useful tool for proper treatment decision making MATERIAL AND METHODS: Genetic tests were performed in four patients as a part of diagnostic procedure by Sanger sequencing or targeted next generation sequencing (NGS gene panel).

Results: We found the genetic causes of hypogonadotropic hypogonadism in 3 males and female with infertility.

Conclusions: Genetic testing is carried out when searching for the genetic causes of clinically identified disorders.

Autoimmune polyendocrine syndromes associated with autoimmune rheumatic diseases.

Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes, are a group of autoimmune diseases characterized by the co-occurrence of dysfunctions of several (at least two) endocrine glands. They develop under the influence of environmental factors in genetically predisposed people. Autoimmune polyendocrine syndromes may accompany autoimmune rheumatic diseases and worsen their course - APS-2 and APS-3 are the most common.

Exome sequencing to explore the possibility of predicting genetic susceptibility to the joint occurrence of polycystic ovary syndrome and Hashimoto's thyroiditis.

A large body of evidence indicates that women with polycystic ovary syndrome (PCOS) have a higher risk of developing Hashimoto's thyroiditis (HT) than healthy individuals. Given the strong genetic impact on both diseases, common predisposing genetic factors are possibly involved but are not fully understood. Here, we performed whole-exome sequencing (WES) for 250 women with sporadic PCOS, HT, combined PCOS and HT (PCOS+HT), and healthy controls to explore the genetic background of the joint occurrence of PCOS and HT.

In silico methods for predicting functional synonymous variants.

Single nucleotide variants (SNVs) contribute to human genomic diversity. Synonymous SNVs are previously considered to be "silent," but mounting evidence has revealed that these variants can cause RNA and protein changes and are implicated in over 85 human diseases and cancers. Recent improvements in computational platforms have led to the development of numerous machine-learning tools, which can be used to advance synonymous SNV research.

Progesterone and Its Metabolites Play a Beneficial Role in Affect Regulation in the Female Brain.

Premenstrual dysphoric disorder is a female affective disorder that is defined by mood symptoms. The condition is linked to unstable progesterone concentrations. Progestin supplementation is given in cases of threatened or recurrent miscarriage and for luteal phase support.

Proposition of a New POLA Index to Assess the Immunomodulatory Properties of the Diet and Its Relationship with the Gut Microbiota, Using the Example of the Incidence of COVID-19 in a Group of People without Comorbidities.

A rise in the incidence of infections with severe acute respiratory syndrome coronavirus 2 has sparked the search for protective strategies against the new pathogen. It is known that individual food components can interact with different immune cells, modulating the immune response of the body. The aim of this study was to develop an index assessing the immunomodulatory potential of diet (POLA index) and to test its utility for the prediction of coronavirus disease 2019 (COVID-19) in a group of healthy young people following a traditional or vegetarian diet.

Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins.

Here, we describe a bioinformatics pipeline that evaluates the interactions between coagulation-related proteins and genetic variants with SARS-CoV-2 proteins. This pipeline searches for host proteins that may bind to viral protein and identifies and scores the protein genetic variants to predict the disease pathogenesis in specific subpopulations. Additionally, it is able to find structurally similar motifs and identify potential binding sites within the host-viral protein complexes to unveil viral impact on regulated biological processes and/or host-protein impact on viral invasion or reproduction.

Laccase immobilization in polyelectrolyte multilayer membranes for 17α-ethynylestradiol removal: Biocatalytic approach for pharmaceuticals degradation.

Enzymatic membrane reactors equipped with multifunctional biocatalytic membranes are promising and sustainable alternatives for removal of micropollutants, including steroid estrogens, under mild conditions. Thus, in this study an effort was made to produce novel multifunctional biocatalytic polyelectrolyte multilayer membranes via polyelectrolyte layer-by-layer assembly with laccase enzyme immobilized between or into polyelectrolyte layers. In this study, multifunctional biocatalytic membranes are considered as systems composed of commercially available filtration membrane modified by polyelectrolytes and immobilized enzymes, which are produced for complex treatment of water pollutants.

Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

The effects of synonymous single nucleotide variants (sSNVs) are often neglected because they do not alter protein primary structure. Nevertheless, there is growing evidence that synonymous variations may affect messenger RNA (mRNA) expression and protein conformation and activity, which may lead to protein deficiency and disease manifestations. Because there are >21 million possible sSNVs affecting the human genome, it is not feasible to experimentally validate the effect of each sSNV.

Synergistic action of laccase treatment and membrane filtration during removal of azo dyes in an enzymatic membrane reactor upgraded with electrospun fibers.

Nowadays, the increasing amounts of dyes present in wastewaters and even water bodies is an emerging global problem. In this work we decided to fabricate new biosystems made of nanofiltration or ultrafiltration membranes combined with laccase entrapped between polystyrene electrospun fibers and apply them for decolorization of aqueous solutions of three azo dyes, C.I.

Comparison of Physicochemical, Mechanical, and (Micro-)Biological Properties of Sintered Scaffolds Based on Natural- and Synthetic Hydroxyapatite Supplemented with Selected Dopants.

The specific combinations of materials and dopants presented in this work have not been previously described. The main goal of the presented work was to prepare and compare the different properties of newly developed composite materials manufactured by sintering. The synthetic- (SHAP) or natural- (NHAP) hydroxyapatite serves as a matrix and was doped with: (i) organic: multiwalled carbon nanotubes (MWCNT), fullerenes C60, (ii) inorganic: Cu nanowires.

Pharmaceuticals and other contaminants of emerging concern in Admiralty Bay as a result of untreated wastewater discharge: Status and possible environmental consequences.

Considering how the impact of human activity in Antarctica is growing, the aim of this study was to conduct the first assessment of pharmaceuticals and personal care products (PPCPs), other emerging contaminants (ECs), and antibiotic resistance genes present in the western shore of the Admiralty Bay region of King George Island. In total, more than 170 substances were evaluated to assess the potential environmental risks they pose to the study area. The major evaluated source of pollutants in this study is discharged untreated wastewater.

Inhibin-B and FSH Are Good Indicators of Spermatogenesis but Not the Best Indicators of Fertility.

Biochemical markers of spermatogenesis and fertility assessment are important in the practical management of infertile males and the determination of an individual’s prognosis. We performed an analysis on 100 males with a male infertility factor. The following study inclusion parameters were analyzed: seminogram, FSH, LH, testosterone, estradiol, prolactin, TSH, and inhibin B concentrations.

Bioremoval of estrogens by laccase immobilized onto polyacrylonitrile/polyethersulfone material: Effect of inhibitors and mediators, process characterization and catalytic pathways determination.

The presence of micropollutants in water, wastewater and soil are a global problem due to their persistent effect on ecosystems and human health. Although there are many methods of removal of environmental pollutants, they are often ineffective for degradation of pharmaceuticals, including estrogens. In presented work we proposed fabrication of electrospun material from polyacrylonitrile/polyethersulfone (PAN/PES) as a support for laccase immobilization by covalent binding.

Insights into the microbial community of treated wastewater, its year-round variability and impact on the receiver, using cultivation, microscopy and amplicon-based methods.

Apart from chemical constituents, wastewater treatment plant (WWTP) effluents also release microorganisms that can be important to the receiving water bodies either from a sanitary point of view, or taking to the account the biogeochemical potential of the recipients. However, little is known about the treated wastewater microbial community, its composition, seasonal changes, functions and fate in the waters of the receiver. Thus, this study presents a synergistic approach coupling new and traditional methods: analytical chemistry, classical microbiology (cultivation- and microscopy-based methods), as well as Next Generation Sequencing and a quantitative real-time polymerase chain reaction (qPCR).

Biocatalytic System Made of 3D Chitin, Silica Nanopowder and Horseradish Peroxidase for the Removal of 17α-Ethinylestradiol: Determination of Process Efficiency and Degradation Mechanism.

The occurrence of 17α-ethinylestradiol (EE2) in the environment and its removal have drawn special attention from the scientific community in recent years, due to its hazardous effects on human and wildlife around the world. Therefore, the aim of this study was to produce an efficient enzymatic system for the removal of EE2 from aqueous solutions. For the first time, commercial silica nanopowder and 3D fibrous chitinous scaffolds from marine sponge were used as supports for horseradish peroxidase (HRP) immobilization.