Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.

Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.

[Association of inflammation and chronic fatigue syndrome in patients with Parkinson's disease].

Objective: To study the prevalence of chronic fatigue syndrome (CFS) and association of CFS with other clinical and neuropsychological manifestations of Parkinson's disease (PD) as well as with serum inflammatory markers and genetic polymorphisms.

Material And Methods: The study included 533 patients with PD. All patients underwent clinical, neurological examination and neuropsychological testing using validated questionnaires: MoCA test, HADS, BDI-II, the Fatigue Severity Scale (FSS).

[The association of single-nucleotide polymorphism rs6265 of the brain-derived neurotrophic factor gene with clinical features in Parkinson's disease].

Objective: To evaluate the frequency and severity of various clinical symptoms of Parkinson's disease (PD) depending on the rs6265 polymorphism.

Material And Methods: The study included 533 patients with PD. The stage of PD was assessed using the Hoehn and Yahr scale (1967), motor symptoms were evaluated with MDS-UPDRS.

Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia.

Globozoospermia is a form of male infertility characterized by spermatozoa with spherical heads lacking acrosomes. The aim of this study was to evaluate ultrastructural and molecular defects in different types of globozoospermia. Semen samples from 12 infertile patients (9 with complete globozoospermia and 3 with partial globozoospermia) and 10 normozoospermic men (control) were examined by transmission electron microscopy and immunocytochemistry with antibodies against lamin B1.

[The relationship between the rs6265 polymorphism of the BDNF gene and the level of serum neurotrophic factor in patients with Parkinson's disease].

Objective: To evaluate the clinical features and the level of serum brain-derived neurotrophic factor (BDNF) in groups of patients with Parkinson's disease (PD) differentiated by the genotypes of polymorphism (rs6265).

Material And Methods: The level of serum BDNF in the biomarkers' multiplex panel of neurodegenerative diseases (HNDG3MAG-36K) was assessed in 134 PD patients. Allele discrimination was carried out by real-time PCR using TaqMan probes for the analysis of rs6265 polymorphism in groups of patients and controls (=192) matched for sex, age and ethnicity.

Detection and evaluation of different morphological forms of Mycoplasma hominis in human semen.

Recently discovered microcolonial forms of Mycoplasma hominis ( M. hominis ) and their impact on human spermatogenesis are studied. The spermatozoa of 125 fertile men (sperm donors; from Reprobank [Reproductive Tissue Bank, Moscow, Russia]) and of 93 patients with fertility problems (from the Federal State Budgetary Institution "Research Centre for Medical Genetics [RCMG]", Moscow, Russia) were used.

[Methylation of Regulatory Regions of DNA Repair Genes in Carotid Atherosclerosis].

The status of DNA methylation in the human genome changes during the pathogenesis of common diseases and acts as a predictor of life expectancy. Therefore, it is of interest to investigate the methylation level of regulatory regions of genes responsible for general biological processes that are potentially significant for the development of age-associated diseases. Among them there are genes encoding proteins of DNA repair system, which are characterized by pleiotropic effects.

Apoptosis Genes as a Key to Identification of Inverse Comorbidity of Huntington's Disease and Cancer.

Cancer and neurodegenerative disorders present overwhelming challenges for healthcare worldwide. Epidemiological studies showed a decrease in cancer rates in patients with neurodegenerative disorders, including the Huntington disease (HD). Apoptosis is one of the most important processes for both cancer and neurodegeneration.

Genetic outline of the hermeneutics of the diseases connection phenomenon in human.

The structure of diseases in humans is heterogeneous, which is manifested by various combinations of diseases, including comorbidities associated with a common pathogenetic mechanism, as well as diseases that rarely manifest together. Recently, there has been a growing interest in studying the patterns of development of not individual diseases, but entire families associated with common pathogenetic mechanisms and common genes involved in their development. Studies of this problem make it possible to isolate an essential genetic component that controls the formation of disease conglomerates in a complex way through functionally interacting modules of individual genes in gene networks.

Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis.

We examined a cohort of 93 cystic fibrosis (CF) male patients who were pancreatic-sufficient (PS-CF; n=40) or pancreatic-insufficient (PI-CF; n = 53). Complex semen examination was performed, including standard semen analysis, quantitative karyological analysis (QKA) of immature germ cells (IGCs), transmission electronic microscopy (TEM), biochemical analysis, and sperm DNA fragmentation by terminal deoxynucleotidyl transferase-mediated dUTP nickend labeling (TUNEL) assay. Azoospermia was diagnosed in 83 (89.

Influence of Extracellular Vesicles from the Follicular Fluid of Young Women and Women of Advanced Maternal Age with Different miRNA Profiles on Sperm Functional Properties.

We studied the effect of co-culturing of extracellular vesicles in the follicular fluid of young women and women of advanced maternal age on sperm motility. Vesicles were obtained by differential centrifugation. The sperm fraction was isolated from the seminal fluid of 18 patients (age 28-36 years).

[The role of alleles with an intermediate number of trinucleotide repeats in Parkinson's disease and other neurodegenerative disorders].

Genetic factors underlie the pathological processes that cause the manifestation of a wide range of neurodegenerative diseases. The pathological expansion of unstable trinucleotide repeats is known to lead monogenic neurological diseases such as Huntington's disease, Kennedy's disease, spinocerebellar ataxia, and others. However, the latest data suggests individuals with intermediate allele (IA) repeat length have a risk of developing common neurological phenotype, for example, Parkinson's disease, Alzheimer's disease.

Putative regulatory functions of SNPs associated with bronchial asthma, arterial hypertension and their comorbid phenotype.

Linkage disequilibrium (LD) of single nucleotide polymorphisms (SNPs) of TLR4/AL160272.2 (rs1927914, rs1928298, rs7038716, rs7026297, rs7025144) was estimated in the Slavs of West Siberia. We further investigated an association of SNPs in TLR4/AL160272.

Influence of Extracellular Vesicles of the Follicular Fluid on Morphofunctional Characteristics of Human Sperm.

We studied the effect of extracellular vesicles of the follicular fluid on morphofunctional characteristics of human spermatozoa using CASA (computer-assisted sperm analysis) analytical system. The vesicles were obtained by sequential centrifugation at different rotational speeds and frozen at -80°C in the Sydney IVF Gamete Buffer medium. The sperm fraction was isolated from the seminal fluid of 21 patients aged 27-36 years by differential centrifugation in a density gradient.

[Action features of the of low-intensity electromagnetic radiation at an early stage of the experimental metabolic syndrome development induced by a diet high in carbohydrates and fats].

Unlabelled: Metabolic syndrome (MS) is a complex of interrelated metabolic disorders leading to the development of abdominal obesity, hyperglycemia, insulin resistance, and dyslipidemia. To develop new methods for the prevention and treatment of MS, it seems appropriate to simulate this disease using a high-calorie diet that induces many of its symptoms. As a therapeutic and prophylactic agent, it is promising to use low-intensity electromagnetic radiation (EMR) of ultra-high frequency (UHF), which can have a stimulating effect on metabolic and regenerative processes and strengthen the mechanisms of their regulation.

Vegetation productivity summarized by the Dynamic Habitat Indices explains broad-scale patterns of moose abundance across Russia.

Identifying the factors that determine habitat suitability and hence patterns of wildlife abundances over broad spatial scales is important for conservation. Ecosystem productivity is a key aspect of habitat suitability, especially for large mammals. Our goals were to a) explain patterns of moose (Alces alces) abundance across Russia based on remotely sensed measures of vegetation productivity using Dynamic Habitat Indices (DHIs), and b) examine if patterns of moose abundance and productivity differed before and after the collapse of the Soviet Union.

Ultrastructural markers of tissue endometrial receptivity in patients with recurrent implantation failure.

The scanning electron microscopy of the endometrial surface epithelium during the 'implantation window' was performed in 119 patients with uterine factor of infertility or recurrent miscarriage due to endometrial hypoplasia. Ultramorphological picture of the surface endometrial epithelium was characterized by aplasia and hypoplasia of pinopodes (67.39%), dense cell - cell contacts (69.

[Docosahexaenoic acid in the treatment of idiopathic male infertility].

Aim: docosahexaenoic acid is one of the most common fatty acids in the cell membranes of sperm. This substance is a structural component of cell membranes, and is responsible for such properties as plasticity and fluidity which are necessary for the implementation of the process of capacitation and acrosome reaction. In addition, docosahexaenoic acid has antioxidant properties.

Impact of the Polymorphism of the and Genes on the Development of the Different Stages of Tuberculosis Infection.

Background: Tuberculosis (TB) is one of the most significant health-care problems worldwide. The host's genetics play an important role in the development of TB in humans. The disease progresses through several stages, each of which can be under the control of different genes.

GenCoNet - A Graph Database for the Analysis of Comorbidities by Gene Networks.

The prevalence of comorbid diseases poses a major health issue for millions of people worldwide and an enormous socio-economic burden for society. The molecular mechanisms for the development of comorbidities need to be investigated. For this purpose, a workflow system was developed to aggregate data on biomedical entities from heterogeneous data sources.

Search for New Candidate Genes Involved in the Comorbidity of Asthma and Hypertension Based on Automatic Analysis of Scientific Literature.

Comorbid states of diseases significantly complicate diagnosis and treatment. Molecular mechanisms of comorbid states of asthma and hypertension are still poorly understood. Prioritization is a way for identifying genes involved in complex phenotypic traits.

The Centriolar Adjunct⁻Appearance and Disassembly in Spermiogenesis and the Potential Impact on Fertility.

During spermiogenesis, the proximal centriole forms a special microtubular structure: the centriolar adjunct. This structure appears at the spermatid stage, which is characterized by a condensed chromatin nucleus. We showed that the centriolar adjunct disappears completely in mature porcine spermatozoa.

Molecular Relationships between Bronchial Asthma and Hypertension as Comorbid Diseases.

Comorbidity, a co-incidence of several disorders in an individual, is a common phenomenon. Their development is governed by multiple factors, including genetic variation. The current study was set up to look at associations between isolated and comorbid diseases of bronchial asthma and hypertension, on one hand, and single nucleotide polymorphisms associated with regulation of gene expression (eQTL), on the other hand.

shRNA-Induced Knockdown of a Bioinformatically Predicted Target IL10 Influences Functional Parameters in Spontaneously Hypertensive Rats with Asthma.

One of the most common comorbid pathology is asthma and arterial hypertension. For experimental modeling of comorbidity we have used spontaneously hypertensive rats with ovalbumin (OVA)-induced asthma. Rats were randomly divided into three groups: control group, OVA-induced asthma group; OVA-induced asthma + IL10 shRNA interference group.