Association between Human Leukocyte Antigen Alleles and Endocrine Disorders in a Cohort of 895 Patients from Russian Clinical Population.

Endocrine disorders represent a serious public health problem and frequently can be caused by genetic factors or their combination with environmental and lifestyle factors. Assessment of relevant genetic factors is important to estimate the risk of endocrine pathologies in an individual before their manifestation. Identification of genetic variations in proteins of the major histocompatibility complex is important with regard to the autoimmune nature of many endocrine pathologies, including type 1 diabetes.

RIRS using a flexible and navigable suction ureteral access sheath and thulium fiber laser in a patient taking anticoagulants with multiple large kidney stones. Clinical case.

Percutaneous nephrolithotomy is one of the modern methods for treating kidney stones larger 2 cm. When anticoagulation therapy cannot be stopped, retrograde intrarenal surgery (RIRS) is recommended. We report a case of RIRS using flexible and navigable suction ureteral access sheath (FANS-UAS) and Thulium fiber laser (TFL) in a patient with multiple large kidney stones who could not be stopped on anticoagulant therapy.

Negative Emotional Eating Behaviour Is Associated With Decreased Masticatory Function.

Objective: The aim of the study was to measure electromyographic (EMG) parameters of masticatory muscle activity and evaluate bolus properties using an agar chewing test in emotional eaters.

Methods: Untrained participants (83 women and 46 men, mean age 32.4 ± 8.

Predictors of Atrial Fibrillation in Heart Failure Patients with Indications for ICD Implantation.

: Atrial fibrillation (AF) is a prevalent arrhythmia that significantly complicates the management of heart failure (HF) patients, particularly those who have implantable cardioverter-defibrillators (ICDs). The interplay between AF and inappropriate ICD therapy poses a critical challenge in optimizing patient outcomes, as inappropriate shocks can lead to increased morbidity, psychological distress, and a reduced quality of life. We aimed to explore the various clinical and demographic predictors of AF in HF patients with indications for ICD implantation.

Could peptide opioid receptor agonists become drugs for treatment of acute myocardial infarction?

Mortality in patients with acute myocardial infarction (AMI) is 5 %-8 % and has not decreased in recent years. One of the causes of death is reperfusion cardiac injury (RCI). It is quite obvious that there is an urgent need to develop drugs that can effectively reduce mortality in AMI.

Multi-Observer Study on Diagnostic Accuracy of Pediatric Renal Tumors Imaged with Higher-Harmonic-Generation Microscopy.

Background/objectives: Wilms tumors, the most common pediatric renal tumors, are heterogeneous and consist of varying amounts of three components: blastema, epithelium, and stroma. Postoperative chemotherapy is tailored based on risk group classification and stage. Due to this heterogeneity, pathologists perform extensive tumor sampling to ensure accurate classification.

Ursane hybrids with 5-amino-1,2,3,4-thiatriazole, 1-tetrazole-5-thione, and 1-tetrazole-5-amines and study of their inhibition of main SARS-CoV-2 protease.

A series of new heterocyclic ursane and 28-norursane hybrids - derivatives of 5-amino-1,2,3,4-thiatriazole, 1-tetrazole-5-thione, and 1-tetrazole-5-amines were prepared. Reacting triterpenoids holding NCS groups at different distances from the pentacyclic backbone with hydrazine hydrate resulted in ursane-derived hydrazinecarbothioamides. Subsequent nitrosation afforded terpenoid derivatives of 5-amino-1,2,3,4-thiatriazole.

Response of GEM models of neuroblastoma to cabozantinib assessed by multiparametric magnetic resonance imaging.

Background: In neuroblastoma MYCN amplification is associated with enhanced angiogenesis and poor survival. Mutations in the anaplastic lymphoma kinase (ALK) gene can occur with MYCN amplification, conferring a very poor prognosis. Vascular endothelial growth factor (VEGF) and hepatocyte growth factor (HGF)/c-MET signalling are implicated in neuroblastoma progression.

A Prospective Pilot Study for Prognosis of Cardiac Resynchronization Therapy Super-Response Using Electrical and Mechanical Dyssynchrony Assessment in Patients with Heart Failure and Strauss Left Bundle Branch Block Criteria.

Electrical and mechanical dyssynchrony (MD) underlies left ventricular (LV) contractile dysfunction in patients with heart failure (HF) and left bundle branch block (LBBB). In some cases, cardiac resynchronization therapy (CRT) almost completely reverses LV contractile dysfunction. The LBBB electrocardiographic Strauss criteria and MD assessment were proposed to improve CRT response.

Indole-3-carbinol exerts neuroprotective effect in cerebral ischaemia/reperfusion through the modulation of Nrf2-mediated antioxidant responses and the restoration of chaperone activity.

Cerebral ischaemia is the primary cause of stroke. The restoration of blood flow, known as reperfusion, has been observed to exacerbate the pathological changes caused by ischaemia and lead to a significant increase in the formation of reactive oxygen species. Cellular defense against reactive molecules is facilitated by the antioxidant system.

Development of an AAV-RNAi strategy to silence the dominant variant GNAO1 c.607G>A linked to encephalopathy.

Heterozygous mutations in GNAO1 cause an ultra-rare neurodevelopmental disease called GNAO1 encephalopathy, characterized by infantile epilepsy and movement disorder. Here, we provide a functional characterization of the hotspot mutation GNAO1 c.607G>A (p.

Mitochondrial DNA Polymorphisms of Peripheral Blood Mononuclear Cells Associated with Sustained Ventricular Tachycardia in Patients with Cardioverter-Defibrillator Implantation Indications.

Background: Mitochondrial dysfunction in myocardium cells has been implicated in arrhythmogenesis, including ventricular tachycardia (VT). A carriage of point mitochondrial DNA (mtDNA) polymorphisms may contribute to the risk of certain arrhythmias. Therefore, it is hypothesized that mtDNA genotype could predict the risk of sustained VT (VT).

Impact of Combined Treatment with ARNi and SGLT2i on Clinical and Echocardiographic Outcomes in Patients with CRT During Mid-Term Period.

Background: Sodium-glucose co-transporter 2 inhibitors (SGLT2i) and angiotensin receptor neprilysin inhibitors (ARNi) are new classes of medications with an evolving role in heart failure (HF) patients. However, the effect of combining these drugs with cardiac resynchronization therapy (CRT) remains less certain.

Objective: This study aimed to investigate the impact of combined treatment with ARNi and SGLT2i on clinical and echocardiographic outcomes in CRT patients during 12-month followup.

The association between sleep timing characteristics and food addiction in adolescents.

Previous research has repeatedly shown that social jetlag is accompanied by metabolic disorders and obesity. However, the mechanism of association between these phenomena has not been sufficiently studied. This study aims to test the hypothesis that social jetlag is associated with an increased incidence of eating disorders and thus increases the risk of metabolic disorders.

Bedmap3 updated ice bed, surface and thickness gridded datasets for Antarctica.

We present Bedmap3, the latest suite of gridded products describing surface elevation, ice-thickness and the seafloor and subglacial bed elevation of the Antarctic south of 60 °S. Bedmap3 incorporates and adds to all post-1950s datasets previously used for Bedmap2, including 84 new aero-geophysical surveys by 15 data providers, an additional 52 million data points and 1.9 million line-kilometres of measurement.

EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders.

Introduction: Endocrine system disorders are a serious public health burden and can be caused by deleterious genetic variants in single genes or by the combined effects of multiple variants along with environmental and lifestyle factors.

Methods: The EndoGene database presents the results of next-generation sequencing assays used to genetically profile 5,926 patients who were diagnosed with 450 endocrine and concomitant diseases and were examined and treated at the National Medical Research Center for Endocrinology between November 2017 and January 2024. Among them, 494, 1,785, 692, and 1,941 patients were profiled using four internally developed genetic panels including 220, 250, 376, and 382 genes, respectively, selected based on a literature analysis and clinical recommendations, and 1,245 patients were profiled by whole exome sequencing covering 31,969 genes.

Impact of SGLT2 inhibitor on clinical and echocardiographic outcomes in patients with CRT during long-term period.

Background: The sodium-glucose co-transporter 2 inhibitors (SGLT2i) have improved the outcomes of patients with heart failure (HF) and reduced left ventricular ejection fraction (LVEF). However, their effects in cardiac resynchronization therapy (CRT) recipients are relatively scarce. This study has investigated the impact of SGLT2i treatment on clinical and echocardiographic outcomes in CRT patients at long-term follow-up.

Case report: Relapse of intrathyroidal parathyroid carcinoma in a patient with novel variants in and genes.

Parathyroid carcinoma (PC) is one of the rarest malignant neoplasms of the human endocrine system, with a prevalence of approximately 0.005% of all oncological diseases. Despite its indolent course, PC generally relapses in about 40%-60% of cases.

Volitional Control of Chewing Frequency Affects Food Oral Processing and Texture Perception.

Background: Although varieties in chewing patterns are essential for the transformation of food in mouth and thereby its sensorial perception, there are few reports that show the effect of chewing frequency on food oral processing and its properties.

Objective: The current study tested whether consciously controlled chewing frequency influences the oral processing of habitually consumed foods and their sensory analysis.

Method: Chewing behaviour was analysed during the mastication of mushed potato samples by 20 participants in two separate test sessions, in which they were instructed to chew the sample in their habitual manner (free chewing test) or follow a preprogrammed video animation displayed on a screen, wich guided them to maintain a constant chewing frequency (F-const chewing test).

Texture Perception and Chewing of Agar Gel by People with Different Sensitivity to Hardness.

Hardness is one of the dominant sensory characteristics of food. This study estimated the effect of sensitivity to hardness on the texture perception and chewing function using 2, 4, and 6% agar gels. Increasing the concentration of agar resulted in an increase in gel hardness and springiness, measured by texture profile analysis.

Urolithin A increases the natural killer activity of PBMCs in patients with prostate cancer.

Background: The natural killer (NK) activity of peripheral blood mononuclear cells (PBMCs) is a crucial defense against the onset and spread of cancer. Studies have shown that patients with reduced NK activity are more susceptible to cancer, and NK activity tends to decrease due to cancer-induced immune suppression. Enhancing the natural cytotoxicity of PBMCs remains a significant task in cancer research.

Comparative evaluation of ACetic - MEthanol high salt dissociation approach for single-cell transcriptomics of frozen human tissues.

Current dissociation methods for solid tissues in scRNA-seq studies do not guarantee intact single-cell isolation, especially for sensitive and complex human endocrine tissues. Most studies rely on enzymatic dissociation of fresh samples or nuclei isolation from frozen samples. Dissociating whole intact cells from fresh-frozen samples, commonly collected by biobanks, remains a challenge.

The role of cell cycle-related genes in the tumorigenesis of adrenal and thyroid neuroendocrine tumors.

The molecular mechanisms underlying adrenal and thyroid neuroendocrine tumors, including their tumorigenesis, progression, and metastasis, involve unique pathways regulating cell cycle progression. To better understand these mechanisms and pathways, extensive in-depth research on cell cycle-related genes is necessary. This review aims to describe and interpret current single-cell RNA sequencing studies on neuroblastoma, medullary thyroid cancer, and pheochromocytoma tumors.

Bone Health ECHO Case Report: High Bone Mass in a Patient with Chronic Kidney Disease.

Bone Health ECHO (Extension of Community Healthcare Outcomes) is a growing family of online educational programs. Its mission is to enhance delivery of best practice skeletal healthcare worldwide. Each program typically consists of a didactic lecture and discussion of clinical cases with diagnostic and treatment dilemmas.

Effect of Carrot Callus Cells on the Mechanical, Rheological, and Sensory Properties of Hydrogels Based on Xanthan and Konjac Gums.

The study aims to develop a plant-based food gel with a unique texture using callus cells and a mixture of xanthan (X) and konjac (K) gums. The effect of encapsulation of carrot callus cells (0.1 and 0.