[The issue of auditory neuropathy: from origins to the present].

The issue of auditory neuropathy spectrum disorders (ANSD) has been in a focus of specialists attention for a relatively short time, but during this time a huge amount of scientific and practical knowledge about this hearing disorder has been accumulated. ANSD is a specific auditory deficit caused by dysfunction of periphery part of the auditory system, which may affect the inner hair cells, the spiral ganglion neurons and the auditory nerve, as well as the area of synaptic contact between them, while the outer hair cells, as a rule, remain intact. As a result, a specific condition is formed, in which a patient's otoacoustic emissions and/or cochlear microphonics are present, auditory brainstem responses are abnormal or absent, electrophysiological data may not correlate with hearing level, the discrepancy between pure tone audiometry and speech discrimination is observed.

Molecular and Cellular Mechanisms of and SARS-CoV-2 Infections-Unexpected Similarities of Pathogenesis and What to Expect from Co-Infection.

Tuberculosis is still an important medical and social problem. In recent years, great strides have been made in the fight against , especially in the Russian Federation. However, the emergence of a new coronavirus infection (COVID-19) has led to the long-term isolation of the population on the one hand and to the relevance of using personal protective equipment on the other.

Long-Latency Event-Related Potentials (300-1000 ms) of the Visual Insight.

The line of insight research methods that have high temporal and surface resolution is not large-these are EEGs, EPs, and fMRI, as well as their combinations and various options for assessing temporal events of random understanding. The objective of this research was to study the classification of insight for visual illusory images consisting of several objects simultaneously according to the analysis of early, middle, late, and ultra-late components (up to 1000 ms) of event-related potentials (ERPs). ERP research on 42 healthy subjects (men) aged 20-28 years was performed.

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.

Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurrent pathogenic alleles. We considered 106 exomes of subjects of Russian origin and revealed 13 genetic variants, which occurred more than twice and fulfilled the criteria for pathogenicity.

Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.

Purpose: Germline mutations in CHEK2 gene represent the second most frequent cause of hereditary breast cancer (BC) after BRCA1/2 lesions. This study aimed to identify the molecular characteristics of CHEK2-driven BCs.

Methods: Loss of heterozygosity (LOH) for the remaining CHEK2 allele was examined in 50 CHEK2-driven BCs using allele-specific PCR assays for the germline mutations and analysis of surrounding single-nucleotide polymorphisms (SNPs).

[Laryngeal cysts in children].

Unlabelled: Laryngeal cysts in children are relatively rare, occupying the 4-5th place in the structure of congenital malformations. The paper presents the combined experience of two Russian pediatric otorhinolaryngological clinics traditionally involved in the rehabilitation of patients with congenital and acquired pathology of the larynx.

Objective: To analyze the features of the clinic, diagnosis and treatment of laryngeal cysts in children.

[Hearing function in children after new coronavirus infection (COVID-19)].

Unlabelled: The information about hearing status of patients who have had a COVID-19 is scattered. There are no studies among children population.

Objective: To evaluate hearing function in children after coronavirus infection.

Expression of the growth hormone secretagogue receptor 1a (GHS-R1a) in the brain.

The review presents data on the expression of growth hormone secretagogue receptor 1a (GHS-R1a) in the brain regions in model animals (zebrafish, rodents, primates), and in the human brain. Studies show widespread distribution of the receptor in the brain, which evidences the involvement of the receptor in many physiological processes. Using various organisms, data have been obtained regarding the participation of the GHS-R1a in the regulation of the anti- and pro-inflammatory response, proliferation, and apoptosis.

[Professor Joachim Albarran. Urologist and scientist ahead of his time].

The article analyzes the scientific and practical activities of the prominent French urologist Professor Joachim Albarran (1860-1912). It is noted that a student of the founder of French urology F. Guyon I.

[Expression of Ghrelin Receptor GHS-R1a in The Brain (Mini Review)].

The review presents data on the expression of ghrelin receptor GHS-R1a in the brain in model animals (Danio rerio, rodents, primates), and in the human brain. Studies show widespread localization of GHS-R1a in the brain, which indicates the involvement of the receptor in many physiological processes. Using various models, information has been obtained regarding the participation of the receptor in the regulation of the pro- and anti-inflammatory response, apoptosis and proliferation.

Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.

Clinical tests based on whole-genome sequencing are generally focused on a single task approach, testing one or several parameters, although whole-genome sequencing (WGS) provides us with large data sets that can be used for many supportive analyses. In spite of low genome coverage, data of WGS-based non-invasive prenatal testing (NIPT) contain fully sequenced mitochondrial DNA (mtDNA). This mtDNA can be used for variant calling, ancestry analysis, population studies and other approaches that extend NIPT functionality.

Analysis of interferon type I signature for differential diagnosis of diseases of the immune system ( review of literature).

Type 1 interferons (IFN1) are both key molecules of antiviral defense and potent inflammatory mediators. In 2003, increased expression of a variety of interferon 1-regulated genes was observed in a blood cells of patients with systemic lupus erythematosus (SLE). This phenomenon was called the type 1 interferon signature (IFN1-signature).

Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.

Diaphanous related formins are highly conserved proteins regulated by Rho-GTPases that act as actin nucleation and assembly factors. Here we report the functional characterization of a non-inherited heterozygous FMNL2 p.L136P mutation carried by a patient who presented with severe very early onset inflammatory bowel disease (IBD).

Efficacy of lorlatinib in lung carcinomas carrying distinct ALK translocation variants: The results of a single-center study.

Background: Lorlatinib is a novel potent ALK inhibitor, with only a few studies reporting the results of its clinical use.

Methods: This study describes the outcomes of lorlatinib treatment for 35 non-small cell lung cancer patients with ALK rearrangements, who had 2 (n = 5), 1 (n = 26) or none (n = 4) prior tyrosine kinase inhibitors and received lorlatinib mainly within the compassionate use program.

Results: Objective tumor response (OR) and disease control (DC) were registered in 15/35 (43%) and 33/35 (94%) patients, respectively; brain metastases were particularly responsive to the treatment (OR: 22/27 (81%); DC: 27/27 (100%)).

ESTIMATION OF THE EFFECTIVE DOSES FROM TYPICAL FLUOROSCOPIC EXAMINATIONS WITH BARIUM CONTRAST.

The current study aimed to estimate the effective doses and conversion coefficients (CCs) for typical barium swallow (BS), barium meal (BM) and barium enema (BE) protocols and to evaluate the impact of different examination parameters on the resulting CCs. Data were collected in surgical and therapy departments in St. Petersburg Urban Mariinsky Hospital.

The presence of polymorphisms in genes controlling neurotransmitter metabolism and disease prognosis in patients with prostate cancer: a possible link with schizophrenia.

Polymorphisms of neurotransmitter metabolism genes were studied in patients with prostate cancer (PC) characterized by either reduced or extended serum prostate-specific antigen doubling time (PSADT) corresponding to unfavorable and favorable disease prognosis respectively. The 'unfavorable prognosis' group (40 cases) was defined by PSADT ≤ 2 months, whereas patients in the 'favorable prognosis' group (67 cases) had PSADT ≥ 30 months. The following gene polymorphisms known to be associated with neuropsychiatric disorders were investigated: a) the STin2 VNTR in the serotonin transporter gene; b) the 30-bp VNTR in the monoamine oxidase A gene; c) the Val158Met polymorphism in the catechol-ortho-methyltransferase gene; d) the promoter region C-521T polymorphism and the 48 VNTR in the third exon of the dopamine receptor gene.

The melatonergic pathway and its interactions in modulating respiratory system disorders.

Melatonin is a key intracellular neuroimmune-endocrine regulator and coordinator of multiple complex and interrelated biological processes. The main functions of melatonin include the regulation of neuroendocrine and antioxidant system activity, blood pressure, rhythms of the sleep-wake cycle, the retardation of ageing processes, as well as reseting and optimizing mitochondria and thereby the cells of the immune system. Melatonin and its agonists have therefore been mooted as a treatment option across a wide array of medical disorders.

Melatonin and Metformin Failed to Modify the Effect of Dacarbazine in Melanoma.

Lessons Learned: Melatonin did not increase the efficacy of systemic chemotherapy in melanoma. Metformin did not increase the efficacy of systemic chemotherapy in melanoma.

Background: Current data support the possibility of antitumor activity of melatonin and metformin.

[Childhood hearing screening: achievements, difficulties, and possible ways to improve].

Hearing impairment is the most common sensory impairment that is seen among adults and children. The frequency of congenital hearing loss is well-known due to implementation of newborn hearing screening. Hearing may change throughout a lifetime due to different factors and, therefore, the number of hearing impaired children increases with age.

The role of Toll-like receptors in neurobiology of alcoholism.

Alcoholism is a global socially significant problem and still remains one of the leading causes of disability and premature death. One of the main signs of the disease is the loss of cognitive control over the amount of alcohol consumed. Among the mechanisms of the development of this pathology, changes in neuroimmune mechanisms occurring in the brain during prolonged alcohol consumption and its withdrawal have recently become the focus of numerous studies.

Rhinoplasty: Aesthetic Augmentation With Improvement of Dorsal Aesthetic Lines.

Background: Camouflage of nasal dorsum, aesthetic augmentation, and highlighting the dorsal aesthetic lines are essential elements in modern rhinoplasty. Numerous techniques have been utilized, including deep temporal fascia, rectus abdominis fascia, and diced cartilage in fascia (DC-F). Despite their widespread adoption, technical challenges remain, especially when utilized for aesthetic purposes.

Rhinoplasty Dissection Planes (Subcutaneous, Sub-SMAS, Supra-perichondral, and Sub-perichondral) and Soft Tissues Management.

Rhinoplasty as an operation is akin to a game of chess, where every maneuver will influence the eventual outcome. Undoubtedly, more than one approach to the nasal soft tissues envelop can produce beautiful and safe results as will be described in the paper namely, the subcutaneous, sub-superficial musculoaponeurotic system, supra- and sub-perichondral planes. For different justifiable reasons surgeons have their preferences, regarding dissection planes on the tip, middle and upper thirds, and regarding the manipulation of the soft tissue layers and nasal ligaments.

Perioperative complications of pediatric otorhinolaryngological operations.

Background: The identification of risk factors for the development of perioperative complications is one of the most important problems of pediatric anesthesiology.

Purpose: To identify risk factors for the development of perioperative complications in children undergoing ambulatory surgical interventions on ENT organs.

Methods: Total of 141 patients were examined at the age from 7 to 17 years.