Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.

Background: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance.

Methods: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES.

Circadian Disruption in Glaucoma: Causes, Consequences, and Countermeasures.

This review explores the intricate relationship between glaucoma and circadian rhythm disturbances. As a principal organ for photic signal reception and transduction, the eye plays a pivotal role in coordinating the body's circadian rhythms through specialized retinal ganglion cells (RGCs), particularly intrinsically photosensitive RGCs (ipRGCs). These cells are critical in transmitting light signals to the suprachiasmatic nucleus (SCN), the central circadian clock that synchronizes physiological processes to the 24-hour light-dark cycle.

Premalignant lesions of the oral cavity: a narrative review of factors and mechanisms of transformation into cancer.

Oral squamous cell carcinoma (OSCC) is the most common type of head and neck cancer. The development and progression of OSCC are closely linked to various aetiological factors. Early signs of OSCC may manifest as oral lesions, genetic abnormalities, and chronic inflammation.

Light Environment of Arctic Solstices is Coupled With Melatonin Phase-Amplitude Changes and Decline of Metabolic Health.

Light environment in the Arctic differs widely with the seasons. Studies of relationships between objectively measured circadian phase and amplitude of light exposure and melatonin in community-dwelling Arctic residents are lacking. This investigation combines cross-sectional (n = 24-62) and longitudinal (n = 13-27) data from week-long actigraphy (with light sensor), 24-h salivary melatonin profiles, and proxies of metabolic health.

Transcription factor TCF4: structure, function, and associated diseases.

Our understanding of human genes - particularly their structure, functions, and regulatory mechanisms - is still limited. The biological role of approximately 20 % of human proteins has not been established yet, and the molecular functions of the known part of the proteome remain poorly understood. This hinders progress in basic and applied biological and medical sciences, especially in treating hereditary diseases, which are caused by mutations and polymorphic variants in individual genes.

[DNA Methylation Profiling in Aneurysm and Comorbid Atherosclerosis of the Ascending Aorta].

Atherosclerosis and aneurysm of the aorta are relatively common pathological conditions that remain asymptomatic for a long period of time and have life-threatening and disabling complications. DNA methylation profiling in several regions (a dilated area, a nondilated area, and an atherosclerotic plaque) of the ascending aorta was carried out in patients with aortic aneurysm. DNA methylation was analyzed by reduced representation bisulfite sequencing (RRBS).

[Cardiac myxoma: biological features, morphology, differential diagnosis].

Cardiac myxoma in its morphology is a typical benign tumor, meanwhile, the fact of its localization in the heart chamber, directly in the constant blood flow, largely determines the clinical behavior of this neoplasm, which is often manifested by the development of characteristics that formally determine the aggressive and even malignant nature of the course. Accordingly, the malignancy of cardiac myxoma is determined more by its clinical behavior (recurrence, multifocality of the lesion, the presence of mechanisms of spread similar to metastasis) rather than by its histological picture. In the structure of primary benign tumors of the heart, myxoma occupies a dominant position and its incidence is up to 85%.

Decoding Chemotherapy Resistance of Undifferentiated Pleomorphic Sarcoma at the Single Cell Resolution: A Case Report.

Undifferentiated pleomorphic sarcoma (UPS) is a highly malignant mesenchymal tumor that ranks as one of the most common types of soft tissue sarcoma. Even though chemotherapy increases the 5-year survival rate in UPS, high tumor heterogeneity frequently leads to chemotherapy resistance and consequently to recurrences. In this study, we characterized the cell composition and the transcriptional profile of UPS with resistance to chemotherapy at the single cell resolution.

Global and Regional Sex-Related Differences, Asymmetry, and Peak Age of Brain Myelination in Healthy Adults.

The fundamental question of normal brain myelination in human is still poorly understood. : Age-dependent global, regional, and interhemispheric sex-related differences in brain myelination of 42 (19 men, 23 women) healthy adults (19-67 years) were explored using the MRI method of fast macromolecular fraction (MPF) mapping. : Higher brain myelination in males compared to females was found in global white matter (WM), most WM tracts, juxtacortical WM regions, and putamen.

Case Report: A Novel Homozygous Variant of the Gene in Rare Pycnodysostosis.

Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion.

Association of Peripheral Markers of Oxidative Stress with Clinical Parameters and Inflammatory Factors in Alcoholic Patients.

One of the fundamental problems in studying addiction is elucidation of mechanisms of alcohol dependence (AD) development. Disturbances of cellular redox balance and inflammation play an important role in AD pathogenesis. Deciphering associations between biological and clinical indicators can elucidate molecular mechanisms of disease pathogenesis.

Alcohol-Induced Activation of Chemokine System and Neuroinflammation Development.

Chemokines are immunoregulatory proteins with pleiotropic functions involved in neuromodulation, neurogenesis, and neurotransmission. The way chemokines affect the CNS plays an important role in modulating various conditions that could have negative impact on CNS functions, including development of alcohol use disorders. In this review, we analyzed the literature data available on the problem of chemokine participation in pathogenesis, clinical presentation, and remission of alcohol use disorders both in animal models and in the study of patients with alcoholism.

The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia.

Background: Hereditary breast cancer is an autosomal dominant disease caused by variants in genes such as BRCA1/2, RAD51, ATM, BRIP1, and others. In a previous study using whole exome sequencing, we identified a germline variant of the LGR4 gene (rs34804482, NM_018490.5(LGR4):c.

Potential role of peripheral blood mononuclear cell s mitochondrial respiratory dysfunction in heart failure severity prediction in patients with cardioverter-defibrillator implantation indications.

Background: It has been reported that the mitochondrial respiratory dysfunction (MRD) is important mechanisms affecting the heart failure (HF) pathogenesis. We sought to evaluate the potential role of MRD of peripheral blood mononuclear cells (PBMC) in HF severity prediction in patients with cardioverter-defibrillator implantation indications.

Methods: In this single-center study patients with HF of New York Heart Association (NYHA) I-III functional class (FC) and cardioverter-defibrillator implantation indications underwent transthoracic echocardiography (TTE) and MRD assessment using PBMC.

Markers of Predicting Response to Neoadjuvant Chemotherapy in Breast Cancer: New in Molecular Oncology.

It is known that complete pathomorphological response (pCR) after neoadjuvant therapy (NAC) in patients with breast cancer (BC) correlates with higher rates of recurrence-free and overall survival. In turn, the widespread use of neoadjuvant therapy for the treatment of breast cancer defines the clinical need for prognostic markers of response to ongoing therapy. Currently, some clinicopathological prognostic factors are used to assess the potential benefit of neoadjuvant systemic therapy for female patients, but they have limited applicability.

BMAL1-Potential Player of Aberrant Stress Response in Q31L Mice Model of Affective Disorders: Pilot Results.

Dysregulation in the stress-response system as a result of genetical mutation can provoke the manifestation of affective disorders under stress conditions. Mutations in the human gene is one of the main risk factors of affective disorders. It was known that DISC1 regulates a large number of proteins including BMAL1, which is involved in the regulation of glucocorticoid synthesis in the adrenal glands and the sensitivity of glucocorticoid receptor target genes.

Associations Between Plasma Levels of NLRP3 Protein, Interleukin-1 Beta and Features of Acute ST-Elevation Myocardial Infarction.

Background: Phenotyping inflammation in ST-elevation myocardial infarction (STEMI) is a challenge for modern cardiology. NLRP3 inflammasome is a proven predictor of adverse outcomes in cardiovascular disease, but its specificity in stratifying inflammatory activity in patients with myocardial infarction (MI) has not been demonstrated. The aim of this paper is to describe the levels of NLRP3 protein and IL-1β concentrations and their changes in dynamics and associations with clinical, laboratory and instrumental characteristics of patients with STEMI.

Experimental Study of Products Based on Biocompatible Polymer Material from Methacrylic Oligomers as a Potential Barrier for Preventing Adhesions in Cardiac Surgery.

The effectiveness and safety of two types of samples based on a biocompatible polymer material made of methacrylic oligomers (Reperen) as a potential antiadhesion pericardial barrier were evaluated in in vitro and in vivo experiments. Two kinds of samples, reinforced with a polyamide mesh and without reinforcement, were used. In in vitro experiments, no adhesion and aggregation of human fibroblasts to the test samples were detected.

Soft tissue sarcomas at the single-cell and spatial resolution: new markers and targets.

Soft tissue sarcomas (STS) are heterogeneous and aggressive tumors, originating in connective tissues embryologically derived from the mesenchyme. Due to their rarity, crucial information about their biology is still lacking. In recent years, single-cell and spatial analyses have opened up new horizons in oncology, leading to the possibility of characterizing the internal architecture of the tumor at the single-cell and spatial levels.

Cardioprotective Effect of Selective μ-Opioid Receptor Agonist Endomorphin-1 in Cardiac Reperfusion In Vivo and In Vitro.

The effect of the selective μ-opioid receptor agonist endomorphin-1 in reperfusion injury in male Wistar rats was studied in vivo and in vitro. The in vivo experiment included coronary artery occlusion (45 min) and reperfusion (120 min); in in vitro experiments, 45-min global ischemia of the isolated rat heart was followed by 30-min reperfusion. Endomorphin-1 was administered intravenously 5 min before in vivo reperfusion (at a dose 50 μg/kg) or added to the perfusion solution at the onset of reperfusion of the isolated heart (in a concentration of 152 nmol/liter).

[A pilot study of associations of markers of glial and neuronal degeneration with executive functions in alcohol use disorders].

Objective: To study the relationship of serum markers of glial and neuronal degeneration with neuropsychological tests reflecting various cognitive domains of executive functions in patients with alcohol use disorders (AUDs).

Material And Methods: A total of 74 men participated in the study, including 30 healthy volunteers and 44 patients with AUDs. The study of executive functioning was carried out using Go/No-Go, Corsi and Color Stroop tests.

Modeling of Isoproterenol-Induced Chronic Heart Failure in 24-Month-Old Rats.

The development of chronic heart failure (CHF) was induced in 24-month-old male Wistar rats weighing 550-600 g by 4 subcutaneous injections of isoproterenol hydrochloride (ISO) at a dose of 10 mg/kg with 3-day intervals. The control group received injections of saline. The rats were euthanized 60 days after the last ISO/saline injection.

[Unprocessed red meat consumption in the general working-age population: sociodemographic, behavioral and health-related determinants].

Anunbalanced diet, specifically excessive unprocessed red meat (RM) consumption, plays significant role in development of chronic non-communicable diseases. Modern research indicates excessive consumption of unprocessed red meat (RM) in the Russian population. There are reports of relationships between RM consumption and some factors, but it hasn't been sufficiently studied.