Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.

Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by pronounced polymorphisms in clinical manifestations and the absence of clear phenotype-genotype correlation. The objective of this study was to conduct a comprehensive molecular-genetic and clinical analysis to verify the diagnosis of OI in six Russian patients with genetic variants in the and genes.

[Multimodal topographically oriented approach to the study of full-thickness macular holes].

Purpose: This article studies the relationship between structural changes according to the findings of optical coherence tomography (OCT) and OCT angiography (OCTA), microperimetry (MP), multifocal electroretinography (mfERG) parameters in topographically corresponding areas of the macular region in idiopathic full-thickness macular holes (FTMH).

Material And Methods: OCT, OCTA, MP and mfERG were performed in 14 eyes with FTMH stages I-IV according to Gass. In 13 points at a distance of 0-2.

He who controls Clostridia and Bacteroidia controls the gut microbiome: The concept of targeted probiotics to restore the balance of keystone taxa in irritable bowel syndrome.

This article describes the concept of probiotics for patients with irritable bowel syndrome to target functionally active bacteria predominantly belonging to the Clostridia and Bacteroidia, which play a key role in maintaining the balance of the gut microbiota.

[International Classification of Health Interventions of World Health Organization as the basis for a new nomenclature of medical rehabilitation services].

Unlabelled: The development of health care system, including medical rehabilitation, in the Russian Federation is required updating nomenclature of simple and complex medical services and establishing its detailed list. The latter should integrate international experience and features of domestic health care system.

Objective: To analyze the structure of International Classification of Health Interventions (ICHI) of World Health Organization (WHO) and the possibilities of its practical application in domestic medical rehabilitation system.

Efficacy and Safety Profiles of Antipsychotic Drugs as Viewed by Psychiatrists: A Comparative Analysis of Cariprazine and Risperidone.

Background: Physicians hold the belief that the treatment outcomes and the treatment strategy they eventually adopt is largely determined by the differences in medications. Despite numerous studies focusing on the decision-making processes of psychiatrists, including the choice of antipsychotics when prescribing pharmacotherapy, the impact of therapeutic drug profiling on physicians' decision-making remains poorly comprehended.

Aim: The aim of this study is to assess the quantitative differences in perceptions of antipsychotics by psychiatrists using cariprazine and risperidone as examples.

The Use of Umbilical Cord Blood Nucleated Cells in the Treatment of Regressive Autism: A Case Report.

Background: Interest in the issue of childhood autism has surged in the recent decades. At the same time, despite the significant progress achieved in understanding the etiological and pathogenetic aspects of the condition, effective ways to treat it have continued to elude us. Stem cell therapy appears to hold great promise in the treatment and rehabilitation of patients with both neurological diseases (cerebral palsy, hydrocephalus) and mental disorders (autism, schizophrenia).

[Pathological profile of S.P. Botkin infectious hospital during the siege of Leningrad (1941-1944)].

The results of autopsies performed in the pathological department of the Infectious Diseases Hospital named after. S.P.

Subtype Identification of Surgically Curable Primary Aldosteronism During Treatment With Mineralocorticoid Receptor Blockade.

Background: Current guidelines and consensus documents recommend withdrawal of mineralocorticoid receptor antagonists (MRAs) before primary aldosteronism (PA) subtyping by adrenal vein sampling (AVS), but this practice can cause severe hypokalemia and uncontrolled high blood pressure. Our aim was to investigate if unilateral PA can be identified by AVS during MRA treatment.

Methods: We compared the rate of unilateral PA identification between patients with and without MRA treatment in large data sets of patients submitted to AVS while off renin-angiotensin system blockers and β-blockers.

[Rehabilitative technologies in patients after total endoprosthesis of lower limbs' major joints: scientometric analysis].

Dynamically developing sphere of physical and rehabilitative medicine raises an important issue on implementation of technologies with proven effectiveness to recover neuromuscular, skeletal and movement-related functions, activity and partipation of traumatological patients into rehabilitation practice. The aim of this review is the consistent information analysis and synthesis of evidence-based researches of current effective methods in the context of medical rehabilitation after endoprosthesis of lower limbs' major joints, as well as the provision of structured information that helps to influence on decision-making for doctors of physical and rehabilitative medicine and other professionals who take part in multidisciplinary interaction.

[Application of narrow-band optical radiation with a wavelength of 650 nm in complex treatment of children with developmental speech delay].

Objective: To substantiate the use of photochromotherapy (narrow-band optical radiation with an average wavelength of 650 nm) in the complex treatment of children with developmental speech delay on the type of general speech underdevelopment (GSU) of I and II degree.

Material And Methods: A number of children equal 70 aged from 4 to 6 years with developmental speech delay were examined. All patients were randomized into 2 clinically comparable groups: the 1st (study) group included 35 patients who received medical treatment in accordance with clinical recommendations in combination with the use of narrow-band optical radiation with an average wavelength of 650nm for 10 days; the 2nd (comparison) group consisted of 35 subjects who received standard drug therapy according to the established clinical recommendations.

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.

Background: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once.

Case Presentation: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant.

Newly identified diversity of Dinomycetaceae (Rhizophydiales, Chytridiomycota), a family of fungal parasites of marine dinoflagellates.

We identified two new parasite species of Chytridiomycota isolated during blooms of the dinoflagellate Alexandrium minutum in the coastal Mediterranean Sea. Light and electron microscopy together with molecular characterization of the nuclear 18S, ITS, and 28S rDNA regions led to their identification as two new species, Dinomyces gilberthii and Paradinomyces evelyniae, both belonging to the family Dinomycetaceae, order Rhizophydiales. Dinomyces gilberthii differs from the previously described D.

A language-independent hearing screening self-test at school-entry.

The usage of a tablet-based language-independent self-test involving the recognition of ecological sounds in background noise, the Sound Ear Check, was investigated. The results of 692 children, aged between 5 and 9 years and 4 months, recruited in seven different countries, were used to analyze the validity and the cultural independence of test. Three different test procedures, namely a monaural adaptive procedure, a procedure presenting the sounds dichotically in diotic noise, and a procedure presenting all the sounds with a fixed signal-to-noise ratio and a stopping rule were studied.

Safety and Immunogenicity of the Convacell Recombinant N Protein COVID-19 Vaccine.

We have developed Convacell-a COVID-19 vaccine based on the recombinant nucleocapsid (N) protein of SARS-CoV-2. This paper details Convacell's combined phase I/II and IIb randomized, double-blind, interventional clinical trials. The primary endpoints were the frequency of adverse effects (AEs) and the titers of specific anti-N IgGs induced by the vaccination; secondary endpoints included the nature of the immune response.

[Safety and efficiency of retrograde intrarenal surgery without X-ray guidance].

Introduction: The main stages of flexible ureteroscopy in patients with renal stones are usually performed under X-ray guidance. Long-term exposure of ionizing radiation can have negative effects on the patients with nephrolithiasis and the operating team.

Aim: To study the results of retrograde intrarenal surgery (RIRS) without fluoroscopic guidance.

Moderate sagittal plane deformity patients have similar radiographic and functional outcomes with either anterior or posterior surgery.

Purpose: This study aimed to compare the functional and radiographic outcomes of two surgical interventions for adult spinal deformity (ASD): anterior lumbar interbody fusion with anterior column realignment (ALIF-ACR) and posterior approach using Smith-Peterson osteotomy with transforaminal lumbar interbody fusion and pedicle screw fixation (TLIF-Schwab2).

Methods: A retrospective cohort study included 61 ASD patients treated surgically between 2019 and 2020 at a single tertiary orthopedic specialty hospital. Patients were divided into two groups: Group 1 (ALIF-ACR, 29 patients) and Group 2 (TLIF-Schwab2, 32 patients).

Biochemical and Structural Diversification of C Photosynthesis in Tribe Zoysieae (Poaceae).

C photosynthesis has evolved independently multiple times in grass lineages with nine anatomical and three biochemical subtypes. Chloridoideae represents one of the separate events and contains species of two biochemical subtypes, NAD-ME and PEP-CK. Assessment of C photosynthesis diversification is limited by species sampling.

Frontal sinus approach in complicated chronic rhinosinusitis with nasal polyps: Our experience.

Background: Hyperostosis is a common consequence of chronic rhinosinusitis with nasal polyps (CRSwNP) and other chronic rhinosinusitis, affecting mainly structures of the ethmoid labyrinth, frontal and maxillary sinuses. These neo-bones are found in advanced stages of rhinosinusitis causes exacerbation because of ostia outflow blockage. Frequent relapses of the disease due to hyperostosis restenosis, represent a problem in the treatment of chronic frontal sinusitis.

[Transcriptome analysis of tissue microbiota diversity in tumor and non-tumor lymph nodes].

Background: Metagenomic studies in recent years have demonstrated that all tissues of the human body studied by genomic and transcriptomic sequencing methods, both in pathological processes and in normality, contain fragments of DNA and RNA from a variety of microorganisms. The composition of tissue microbiota and its relationship with development of pathological changes are still poorly understood, despite increasing number of studies in this area every year. In this study, gene expression of the lymph node microbiome in reactive follicular hyperplasia and follicular lymphoma was investigated.

[Clinical features, diagnostics and treatment of FGF23 secreting tumors: series of 40 clinical cases].

Introduction: Tumor-induced osteomalacia is an acquired rare disease manifested by hypophosphatemic osteomalacia due to excessive secretion of fibroblast growth factor 23 (FGF23). FGF 23 is a non-classical hormone secreted by bone tissue (osteocytes) and regulates phosphorus metabolism.The aim of this work is to present clinical experience in the diagnosis, treatment and rehabilitation of patients with tumor-induced osteomalacia.

Unexpected extra exon skipping in the DYSF gene during restoring the reading frame by CRISPR/Cas9.

The DYSF gene encoding dysferlin protein is one of the largest and has many transcripts. Pathogenic variants in the gene can lead to various types of myopathies, which makes it a good object for studying the events occurring in it during genome editing by the CRISPR/Cas method. In this study, we evaluated the possibility of permanent skipping of exons 3-4, and 26-27 which deletion does not violate the reading frame and allows to eliminate truncated variants within exons.

[Adenocarcinoma of nonpigmented ciliary body epithelium (clinical cases)].

The article presents two clinical cases of adenocarcinoma of nonpigmented epithelium of the ciliary body, which is a very rare malignant tumor of the organ of vision with distinctive features. Surgical treatment is necessary to verify this tumor and assess the degree of its aggressiveness in terms of the prognosis of the disease, with subsequent pathomorphological and immunohistochemical studies. The article also discusses the epidemiological aspects, morphological features, clinical manifestations of this pathological condition, as well as possible treatment options and features of follow-up monitoring of this group of patients.

Prospective multicenter online testing of the carotid endarterectomy risk stratification calculator carotidscore.ru.

Aim: To evaluate the incidence of complications, including fatal outcomes, ischemic strokes, and transient ischemic attacks, associated with carotid endarterectomy (CEA) in patients categorized as low-, medium-, and high-risk based on their CarotidSCORE (carotidscore.ru).

Material And Methods: This prospective, multicenter study was conducted from January 1, 2022, to December 20, 2022, and enrolled 5,496 patients with stenosis of the internal carotid artery (ICA), who were categorized into four groups according to their risk level.

[Non-ischemic priapism (post-traumatic arteriovenous fistula of the right cavernous body) in the background of Landusy-Dejerine myopathy].

Landouzy-Dejerine myopathy (Facial-shoulder-shoulder myodystrophy) is a disease which causes weakness of the muscles of the shoulder girdle, back and hip muscles, which predisposes patients to an increased risk of injury and disability. The article presents a clinical observation of non-ischemic priapism, which developed as a result of perineal trauma with the formation of a fistula of the right cavernous body in a patient against the background of facial shoulder-shoulder myodystrophy. Methods for the differential diagnosis of this condition are also discussed.

[Efficacy of Sildenafil oral spray for the treatment of erectile dysfunction in patients with type 2 diabetes mellitus and prediabetes].

Aim: To evaluate the results of using Sildenafil in the form of an oral spray (Gent) for the treatment of erectile dysfunction (ED) in men with type 2 diabetes mellitus (DM) and prediabetes.

Material And Methods: A total of 60 patients were divided into two groups of 30 people. The group 1 included patients with prediabetes, while group 2 consisted of patients with type 2 DM.